Human Development 2 Flashcards

1
Q

when you put your hands on your hips what bony land mark are u putting hands on?

A

when you put your hands on your hips your putting your hands on each iliac crest

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2
Q

what kind of joint is the pubic symphysis

A

cartilaginous joint

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3
Q

what bone do you sit on when you sit on ur bum

A

when you sit on your bum, you are sitting on the ischial tuberosities. These are the rounded bony prominences of the ischium, which is part of the pelvic bone.

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4
Q

which 2 bony landmarks does the inguinal ligament run between

A

inguinal ligament runs between ASIS and pubic tubercle

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5
Q

The umbilical artery is a paired vessel that arises from the internal iliac artery. During the prenatal development of the fetus, it is a major part of the fetal circulation. What happens to it after birth?

A

After birth, the distal part of the artery obliterates and becomes the medial umbilical ligament.

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5
Q

what neurovasculature runs through each of the following:

-greater sciatic foramen
-lesser sciatic foramen
-obturator foramen
-inguinal ligament

A

greater sciatic foramen
-gluteal arteries,veins + nerves
-sciatic nerve
-pudendal nerve

lesser sciatic foramen
-pudendal nerve

obturator foramen
-obturator artery, vein + nerve

inguinal ligament
-femoral artery, vein + nerve

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6
Q

what is the site of convergence between perineal and pelvic floor muscles which often tears during childbirth

A

the perineal body, is a fibromuscular mass which is the site of convergence between perineal and pelvic floor muscles. The perineal body is the final support of the pelvic viscera, disruption of the perineal body can therefore result in prolapse of pelvic viscera

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7
Q

The pudendal nerve is a somatic nerve, which spinal roots does it emerge from and explain its branching + what it innervates

A

The pudendal nerve; is a somatic nerve; emerges from spinal root S2-S4.

It branches from the sacral plexus + leaves the pelvis through the greater sciatic foramen to enter perineum

The pudendal nerve is responsible for sensory + motor innervation to perineum + is sensory to the genitals and motor to external urethral and anal sphincters

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8
Q

what is the most common site of fertilisation in the uterus

A

Ampulla is the most common site of fertilisation

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9
Q

what is an ectopic pregnancy

A

ECTOPIC PREGNANCY IS WHEN THE EMBRYO IMPLANTS outside of the body of the uterus

when a fertilized egg implants and grows outside the main cavity of the uterus

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10
Q

what is the normal position of the uterus (not pregnant)

A

anteverted and anteflexed

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11
Q

What are the 3 different types of nerve blocks or analgesic used for childbirth

A

1) spinal block= blocks all sensation
used ofr cesarean; all sensation below spinal block is numbed; can be carried out below L3 (but can be as high as T4 tho to ensure all sensation gone)

2) epidural= administered into epidural space (fat filled space around dura mater) takes away pain but not other sensation
- delivered in lumbar regions (below L3)

3) pudendal nerve block (lowest level of anaesthesia)
- used in more than just childbirth
e.g. surgery on perineum
-block all sensory and motor activity of pudendal nerve

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12
Q

what part of the prostate is effected by BPH (benign prostate hyperplasia)

A

BPH effects the transition zone (TZ) of the prostate. TZ becomes enlarged. The TZ surrounds the urethra, in BPH this compresses the urethra making urination difficult

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13
Q

BPH (benign prostate hyperplasia) aka BPE (benign prostate enlargement). Symptoms, causes , diagnosis + treatment

A

causes:
-advance age
-androgen problems (high testosterone, low oestrogen or general imbalance so higher oestrogen than testosterone)

symptoms:
-weak/interrupted urine flow
-frequent urination (nocturia)
-trouble urinating
-pain or burning during urination
-blood in urine or semen

FUN acronym= frequency, urgency, nocturia

diagnosis:
-history (fam history of prostate cancer or high testosterone/low oestrogen)
-digital rectal exam (DRE)
-blood test; prostate specific antigen (PSA) or gamma-seminprotein or kallikrein-3
-ultrasound biopsy

treatment:
-wait + see (if asymptomatic)

if symptoms
-alpha1 adrenergic blockers (relax smooth muscle to help urine flow)
-5-alpha-reductase inhibitors (dutasteride + finasteride) block the conversion of testosterone to DHT so reduces drive for growth cuz less potent (slows any further growth)

-surgery if significant enlargemen
-UroLift; transurethral resection or prostatectomy
-REZUM procedure (steam cook the prostate)= NICE recommended procedure now

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14
Q

Differences between direct and inguinal hernias

A

direct hernia:

indirect hernia:

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15
Q

What is Peyronie’s disease (bent penis); causes, symptoms, treatment

A

-scar tissue forms in shaft of penis causing bending or deformity of penis

causes
-scar tissue as a result of injury e.g. sex
-connective tissue disorders
-autoimmune reaction of body attacking penile tissue

symptoms:
-painful erections difficulties with sexual intercourse

treatment:
non-surgical;
-stretching/traction
-injections of collagenase (breaks down scar tissue)
-topical verapamil (disrupts production of collagen)
-interferon alpha 2b injections reduces fibrosis
-para-aminobenzoate may reduce plaque size

or
surgical

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16
Q

what is varicocele?

A

quite common (10-15%) can cause infertility (15% of men with varicocele are infertile as it increases the temp of the sperm)

varicose veins of the scrotum (pampiniform venous plexus)

most cases on left scrotum (on lefty they go up and join at a right angle making ti easier for them to varicose)

treatment is lasering the pampiniform veins to close them

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17
Q

Explain what gestational diabetes (GDM) is; pathophysiology, risk factors, complications, management, consequences for fetus vs mother

A

gestational diabetes (GDM) = glucose intolerance during pregnancy

pathophysiology:
thought to be exaggerated maternal response as pregnancy is intrinsically a state of insulin resistance + glucose intolerance. Placenta secretes anti-insulin hormones (hPL,PCRH= increase cortisol + PGH) to achieve this state (attacks beta islets)

risk factors:
-50% will develop T2D 10-15yrs post-partum
-indian/ southeast asian background
-family history diabetes
-BMI 30+ (obesity)
-age 35+
-has PCOS
-previous macrosomic bby
-glycosuria (glucose in urine)
-large for gestational age in current pregnancy

complications:
-preeclampsia
-fetal hyperinsulinaemia
-developing T2D
-large bby weight (macrosomia)
-polyhydramnios (excess amniotic fluid)

management:
-IV insulin
-lose weight (if overweight)
- diet + exercise
- monitor blood glucose
- Metformin and glyburide (sulfonylureas) can be used instead of IV insulin but with immense care/ not recommended as these oral drugs become concentrated in the fetus!

consequences for fetus:
-Macrosomia: birth trauma risk (Erb’s palsy, fetal asphyxia,shoulder dystocia)
- Neonatal Hypoglycemia: Occurs post-delivery due to abrupt removal of maternal glucose supply but persistent fetal hyperinsulinemia.
- Respiratory Distress Syndrome: Delayed lung maturation in poorly controlled GDM.
- Congenital Abnormalities: Slightly higher risk if GDM was unrecognized early in pregnancy.
- Stillbirth: Rare but increased risk in poorly controlled cases.

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18
Q

if the mother uses one of these drugs whil pregnant, what affect can they have on birth weight;

-metformin
-glyburide (sulfonylureas)

A

METFORMIN= decreases birth weight of baby
GLYBURIDE= increases birth weight of baby

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19
Q

what is oligohydramnios vs polyhydramnios and how is it defined clinically

A

oligohydramnios (11% pregnancies)= low amniotic fluid (less than 300ml in 3rd trimester= can be caused by amniotic fluid leak or fetal kidney abnormalities= can cause Potter facies (bby becomes squashed but it will reverse after a couple days born) if early stage
treat: (if its a tear it heals and the fluid will increase again), drink lots of water, rest, amnioinfusion, depends on cause.

polyhydramnios (1+ pregnancies)= excess amniotic fluid (greater than 2000ml at any period of gestation), caused by fetal GI, kidney abnormalities, GDM, T2D
treatment: drain fluid + give indomethacin (reduces fluid production)

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20
Q

what is Potter facies/ Potter syndrome?

A

Potter facies is characterized by prominent epicanthic folds, low set ears, flattened nose due to uterine pressure, and recessed chin.

On physical examination, infants have characteristics facies, defects in lower extremities, and genital tracts.

other characteristics:
Limb anomalies (abnormal positioning, hip dislocation, short lower limb, clubbed feet), absent anal opening, hemivertebrae, and sacral agenesis are the common skeletal deformities.

Stage of fetal lung development, degree, and duration of oligohydramnios determine the extent of pulmonary hypoplasia.

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21
Q

what kind of anaemia do pregnant women get?

A

dilutional anaemia (ak physiological anaemia of pregnancy)

most women get this as plasma volume increases at a faster rate than haemoglobin volume

iron-deficiency anaemia (90% cases in 3rd trimester) this can cause lots of bleeding from mother at time of delivery; so fetus is draining mother of iron in 3rd trimester

n.b. hepcidin goes up in the 1st trimester and blocks ferroportin meaning she ma

treatment:
oral iron tablets or syrup, iron infusion, blood transfusion

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22
Q

explain simply the role of hepcidin, ferroporton in the production of haemoglobin (Hb)

A

Ferroportin: (iron gatekeeper)
- protein found on the surface of cells that store or absorb iron.
- Acts like a “gate” that lets iron out of these cells into the bloodstream.

Hepcidin (iron regulator)
-produced by liver
-controls how much iron released into blood
-when hepcidin levels high= blocks ferroportin= decreases blood iron levels
-when hepcidin levels low= allows ferroportin to work (open gate)= increases blood iron levels

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23
Q

How does cytomegalovirus effect baby?

A

prevelance : 0.7% live births (13% of those symptomatic at birth)

  • primary infection more likely to cause congenital CMV

symptoms in bby:
-sensorineural hearing loss 1st 5-7yrs
-75% bbies with symptomatic CMV develop hearing loss

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24
Q

how does toxoplamosis effect baby? What are the risk factors of catching toxoplasmosis and what causative agent causes it.

A

causative agent= toxoplasma gondii

natural hosts: cats

risk factors; cat ownership (0.7), gardening (2), eating raw meat (2.6), eating cured meat (2.9)

infection is commonly asymptomatic; but symptoms include fever and lymphadenopathy. 40% adults are IgG positive tho

if woman is newly infected she can pass to bby (if she had before preg she n bby protected)

clinical features in b by:
choriorentitis (inflammation of the choroid and retina), hydrocephalus, intracranial atherosclerosis

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25
Q

how does HSV effect baby?

A
  • over 90% of adults have HSV antibodies by 40

-N.B. Babies are most at risk if the mother has a primary HSV infection (first outbreak) during the last trimester or at delivery because she may not have developed sufficient antibodies to pass on to the baby.

-HSV 2 seroprevalence related to sexual activity.

HSV symptoms in baby:
-Initial Signs: Lethargy, irritability, poor feeding, fever, or low body temperature.
-Skin Symptoms: Blisters or lesions, often appearing within the first two weeks.
-Serious Complications: Seizures, difficulty breathing, jaundice, shock, or organ failure in severe cases.

65% mortality if untreated
25% with IV ACYCLOVIR treatment

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26
Q

how does influenza effect mother, but not baby?

A

The placenta prevents the influenza virus from crossing into the baby’s bloodstream as its too big molecule.

While the baby is shielded from direct infection by influenza, severe maternal illness can have indirect effects, such as:

Increased risk of preterm labor.
Low birth weight.
Potential fetal distress if maternal oxygen levels drop significantly

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27
Q

UTIs are more common in pregnancy. How does this affect mother and baby. What is the treatment?

A

causative organisms; e.coli, p.mirabilis, k.pneumonae

must treat asymptomatic women too

maternal complications:
-pyelonephritis (kidney infection)

fetal complications;
-preterm labour
-growth restriction

treatment;
-penicillin’s
-cephalosporins
-nitrofurantoin

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28
Q

Explain the stages of syphilis and if left untreated what risk it poses to baby (if mother with syphilis pregnant)

A

bacterial infection caused by: treponema pallidum (spirochete)

-50% risk of congenital syphilis

earlier the disease stage the worse the prognosis= associated w miscarriage, still birth and premturity

primary; chancre (SHANG-kur) first lil spore that is painless and indicates syphilis

secondary; rash

tertiary; GPI, tabes dorsalis (effects spinal cord; sensory loss) , neurosyphilis (affects brain + therefore spinal; motor loss/mixed deficits)

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29
Q

what does rubella (german measles) cause to bby

A

n.b. no cases of rubella in uk since 2019 so we no longer screen

  • rubella effects eye development in babies; heart defects, low birth weight, glaucoma, cataracts

outside pregnancy; rubella causes rash, lymphadenopathy (swollen lymph nodes), arthralgia (joint pain without visible inflammation)

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30
Q

what is hyperemesis gravidarum?

A

Hyperemesis gravidarum is extreme morning sickness and causes you to vomit several times per day during pregnancy. In severe cases, it leads to dehydration and may cause premature birth

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31
Q

Define the following:
-antepartum, intrapartum, postpartum

-define the 1st, 2nd and 3rd trimester

A

antepartum= early (before 24wks) late (after 24wks)

intrapartum= in labour (1st + 2nd stages)

postpartum= from delivery of fetus till 6wks later

1st trimester= 0-12 wks

2nd trimester= 13-27

3rd trimester= 28- chilbirth (40wks)

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32
Q

Explain the function/role of hormones produced by the placenta and where they’re made

A

hCG: Maintains corpus luteum for progesterone production; supports fetal gonads; modulates immunity. Produced by the syncytiotrophoblast of the placenta.

Progesterone: Maintains uterine lining; prevents contractions; modulates immune response; supports lactation. Initially by the corpus luteum, later by the syncytiotrophoblast (8–10 weeks onward).

Estrogens (e.g., Estriol): Promotes uterine growth, placental blood flow, mammary gland development, and fetal growth. Formed in the syncytiotrophoblast from androgens (DHEAS) supplied by fetal adrenal glands.

hPL (Human placental lactogeb) / (aka Human Chorionic Somatomammotropin hCS) : Alters maternal metabolism for fetal energy needs; stimulates mammary glands for lactation. Secreted by the syncytiotrophoblast.

CRH (Corticotropin-Releasing Hormone) : Regulates fetal cortisol for lung maturation; influences labor timing; increases maternal cortisol. Produced by the syncytiotrophoblast, with levels rising toward term.

Relaxin: Softens pelvic ligaments and cervix; maintains uterine quiescence for childbirth. Primarily secreted by the corpus luteum; minor contribution from placenta.

Kisspeptin: Regulates puberty and reproduction (via GnRH); suppresses tumor spread. Central: Hypothalamus (ARC and AVPV); Peripheral: Placenta, pancreas, liver, small intestine.

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33
Q

define infertility/ sterility and subfertility. Explain the difference between primary and secondary infertility.

A

infertility is when someone is unable to conceive, even with medical interventions

primary infertility= couple have never been able to conceive

secondary infertility= couples who, had a baby(/babies) without any difficulty, but cannot get pregnant again or had a miscarriage or ectopic pregnancy

subfertility is delayed/reduced capacity to conceive/ ‘the failure to achieve clinical pregnancy after 12 months or more of regular unprotected sex’

subfertiliy= when someone ca n conceive with medical intervention

1 in 7 couples in UK have fertility problems

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34
Q

There are 4 classifications for infertility/subfertility in females. Explain each.

A

1) hypothalamic
-hypothalamic amenorrhea
-anorexia nervosa (decreased weight+ increased exercise= decrease leptin= leptin stims GnRH release. Consider pulsatile GnRH to induce ovulation

2) pituitary
-hyperprolactinaemia (decreases LH + FSH. Give dopamine agonist to inhibit prolactin which increases LH and FSH level e.g. bromocriptine, cabergoline)

3) ovarian
-premature ovarian failure (primary ovarian insufficiency) if under 40 yrs of age; consider donor eggs or alternative parenting options

4) polycystic ovary syndrome (PCOS) (very common endocrine disorder)

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35
Q

What is Polycystic ovary syndrome (PCOS) ; explain Rotterdam criteria for diagnosis + pathophysiology of disease

A
  • 33% prevalence in UK
  • numerous small cysts (fluid-filled sacs form in the ovaries
    -linked to diabetes
    -easily diagnosed with ultrasound as well as you can see cysts on ovaries
    -insulin resistance, high BMI

Rotterdam criteria (2 out of 3 of these gives PCOS diagnosis):
1) Hyperandrogenism (increased levels of male hormones) = hirsutism (excess body hair), acne
2) Oligomenorrhoea (<6-9 menses/year)= anovulation (absence of ovulation) or oligovulation (infrequent ovulation)
3)Polycystic ovaries on ultrasound (12+ follicles larger than 9mm)

pathophysiology of PCOS:
- increase in anti-mullerian growth factor (AMH)
- insulin resistance and obesity causes higher androgen levels
-LH hypersecretion due to increased pituitary sensitivity to GnRH
- increase LH, normal FSH= increased free testosterone
- increase angrogen: exclude congenital adrenal hyperplasia (CAH), hyperprolactinaemia, androgen-secreting tumours
- thyroid disorders are more common

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36
Q

what are fibroids?

A

fibroids are non-cancerous smooth muscle growths of uterus= leiomyoma

v common 60% of women have them

only cause infertility if they are very large

more common in black women

-surgery can remove fibroids and restore fertility

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37
Q

how many miscarriages does a patient need to have to be diagnosed with fetal loss syndrome/ fetal wastage syndrome

A

fetal loss syndrome/ fetal wastage syndrome= more than 3 miscarriages

prevalence is 1% of population

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38
Q

which prostaglandin causes contractions of uterus to deliver baby?

A

prostaglandin E2 causes contractions of uterus to deliver baby

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39
Q

what is the medical term for undescended testes

A

cryptorchidism

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40
Q

what is clomiphene citrate drug used for?

A

Clomiphene citrate is used to induce ovulation (egg production) in women who do not produce ova (eggs) but wish to become pregnant (infertility).

Clomiphene citrate is:
-non-steroidal antagonist at hypothalamic oestrogen receptors
-first line treatment for PCOS
-binds to oestradiol (E2) receptor in hypothalamus
-inhibits E2 negative feedback and activate GnRH secretion, correct the imbalance levels of FSH + LH
-start dose 50mg/day for 5 days during folicular phase; if ovulation doesn’t occur dose is increased

side effects; multiple gestation (mainly twins) + ectopic pregnancy

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41
Q

what is a gonadotrophin hormone?

A

any of a group of hormones secreted by the pituitary which stimulate the activity of the gonads.

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42
Q

what medications can effect semen; explain how?

A
  • alpha-1 receptor blockers effect transport of spermatozoa because the transport of spermatozoa from the epididymis to the urethra depends on the activation of alpha-1 receptors in smooth muscle cells in the vas deferens

-SSRIs can inhibit vas deferens motility and accessory sex gland emptying

-anabolic steroids mimic testosterone, leading to feedback inhibition of the hypothalamus + pituitary. This suppresses the release of GnRH, LH and FSH.
N.B. FSH + LH stimulate testes to produce sperm= suppression of them leads to decrease in spermatogenesis= low sperm count (oligospermia) or absence of sperm (azoospermia)

the use of anabolic steroids is called androgen abuse as anabolic-androgenic steroids are synthetic derivatives of testosterone

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43
Q

what is mumps related orchitis?

A

orchitis= refers to infection or swelling and irritation, called inflammation, of one or both testicles.

Mumps-related orchitis is a condition where the testicles become inflamed due to a viral infection caused by the mumps virus. Orchitis is a recognized complication of mumps, particularly in post-pubertal males.

Cause: The mumps virus, which primarily affects the parotid glands (salivary glands), can spread to other parts of the body, including the testes.
Age group affected: Most common in males who contract mumps after puberty, though it can theoretically occur at any age.

Symptoms:
Pain and swelling: In one or both testicles.
Fever and malaise: Often associated with the systemic effects of mumps.
Tenderness: The testicles may become very sensitive to touch.
Erythema (redness): Overlying the scrotum.
Nausea or vomiting: As a systemic response to the infection.

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44
Q

infertility can be caused by MTHFR mutation, explain why ?

A

A gene mutation C677T in methylene tetrahydrofolate reductase (MTHFR) means body does not convert folic acid to folate. Folate deficiency causes fertility problems in men and women

Impact of Deficiency in Men: Folate deficiency can lead to decreased sperm count and motility, as well as increased DNA fragmentation in sperm, reducing fertility.

Impact of Deficiency in Women: Inadequate folate levels can impair egg quality and disrupt ovulation, making conception more difficult.

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45
Q

what is the anatomical landmark for pudendal nerve block

A

the anatomical landmark for pudendal nerve block is ischial spine

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46
Q

What is Gestational Trophoblastic Disease (GTD) + it’s symptoms

A

Gestational Trophoblastic Disease (GTD) is when the trophoblastic tissue that forms part of the blastocyst proliferates more aggressively than normal. Only placenta develops like crazy NOT fetus
-1 in 1000 pregnancies
-twice as common in asian than caucasian women

symptoms:
-vaginal bleeding (light-torrential)
-hyperemesis gravidarum (cuz increased HCG)
-enlarged uterus
-early pre-eclampsia
-hyperthyroidism symptoms!
-reccurs in 1:60 pregnancies

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47
Q

what is a complete molar pregnancy?

A

this goes under Gestational Trophoblastic Disease (GTD);

-entirely paternal tissue
-no fetal tissue at histology
-happens when sperm fertilises an empty egg that contains no genes from the mother

-molar tissue removed by surgery
-15% molar tissue remains in the deeper tissues of the womb or other parts of the body

this is regarded now as a persistent gestational tumour and requires chemo therapy to remove it (methotrexate)

-2 sets of male chromosomes (69)

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48
Q

what is vasa praevia and its complications if left unmanaged

A

vasa praevia is a rare but serious obstetric condition where fetal blood vessels are within the membranes (amnion and chorion) rather than embedded in the umbilical cord or placenta. They pass near or over the cervix.

vasa praevia literally means “vessels in front”

n.b. no major complications in pregnancy its BIRTH that vasa praevia is dangerous in

Complications:
Fetal exsanguination: The fetus can lose a life-threatening amount of blood in minutes if the vessels rupture.
Preterm delivery: May be required to prevent vessel rupture.
Stillbirth: Without timely intervention, vasa praevia can lead to fetal death.

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49
Q

what is IUGR?

A

IUGR= Intrauterine Growth Restriction (or Retardation in older terminology)

A fetus is considered to have IUGR if its estimated weight is below the 10th percentile for its gestational age based on ultrasound measurements

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50
Q

what is placenta praevia?
+ risk factors

A

placenta praevia= placenta ‘in front; when placenta inserted into lower segment of the uterus after 24 wks

major= covers cervix + internal os
minor= marginal <2cm from internal os

risk factors:
-prior praevia
-multiparity
-multiple pregnancy
-advanced maternal age
-previous lower segment c-section
-smoking

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51
Q

what is placenta accreta spectrum (accreta/ increta/percreta). Explain the difference, what to do if mother admitted due to bleeding.

A

Placenta accreta spectrum is a serious condition that occurs when the placenta grows too deeply into the uterine wall.

placenta accreta= chorionic villi invade too deeply into uterine wall rather than restricted within decidua basalis

placenta increta= chorionic villi invade myometrium of uterus (attaches into uterine muscle)

placenta percreta= chorionic villi invade through perimetrium; sometimes past uterine walls even nearby organs like bladder invaded

admit if bleeding;
-IV line, cross match 4-6 units of blood
-antiD if rhesus negative
-consider antenatal steroids

if maternal/fetal compromise at >37wks=
-emergency c section + hysterectomy
-methotrexate
-close pelvic vessels

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52
Q

which hypertension/blood-pressure medications (groups or specific) are teratogenic (harmful to fetus)

A
  • ACE inhibitors e.g. Enalapril, Lisinopril, Ramipril
  • Atenolol (specific beta-blocker of concern)
  • Angiotensin II Receptor Blockers (ARBs) ; e.g. Losartan, Valsartan, Irbesartan
  • Mineralocorticoid Receptor Antagonists e.g. Spironolactone, Eplerenone.

What to use for pregnancy hypertension instead:

acute management:
Labetalol: A combined alpha- and beta-blocker; first-line treatment for hypertension in pregnancy.
Hydralazine: Occasionally used, particularly in acute settings for severe hypertension.

Chronic management:
Methyldopa: Long-standing safety profile for managing chronic hypertension in pregnancy.
Nifedipine: A calcium channel blocker often used for blood pressure control in pregnancy.

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53
Q

what is the HELLP syndrome for pre-eclampsia? (3% of pre-eclampsia cases)

A

HELLP syndrome
H= hemolysis
EL= elevated liver enzymes
LP= low platelets

after 20wks gestation or up to 6wks post-partum

  • HELLP is a variant of pre-eclampsia and it’s often asymptomatic

symptoms of HELLP:
-headaches
-swelling in hands and face
-right upper quadrant pain

n.b. pre-eclampsia symptoms are – high blood pressure, protein in the urine and swelling of hands, feet or face

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54
Q

what is eclampsia; symptoms + treatment

A

super rare 3% of pre-eclampsia patients

symptoms:
- pre-eclampsia symptoms; high blood pressure, protein in the urine and swelling of hands (pitting oedema), feet or face
+ SEIZURES; convulsive manifestations of pre-eclampsia

most seizures are post-natal

treatment: magnesium sulfate + hypertensives

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55
Q

what is atopy?

A

Atopy refers to the genetic tendency to develop allergic diseases such as allergic rhinitis, asthma and atopic dermatitis (eczema).

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56
Q

what is a wheeze? why is it heard first on expiration?

A

musical lung sound; oscillations in narrowed airways; heard first on expiration

‘breathing that makes a high-pitched whistling or squeaking sound from the chest, NOT the throat’

Why is it heard first on expiration?
When you breathe out (expiration), your lungs and airways naturally compress a bit.
If your airways are already narrowed (due to asthma, inflammation, or mucus), this compression makes it even harder for air to flow out.
The restricted airflow creates the wheezing sound as the air “squeezes” through the tight spaces.

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57
Q

Define labour; what are the stages of labour?

A

labour= presence of regular painful uterine contractions becoming progressively stronger/more frequent; accompanied by effacement(aka cervical ripening) is softening of cervix (relaxin released by placenta late stage of pregnancy causes this) + progressive dilation of cervix

24-48hrs prior to labour u have a show which is a bloody mucoid plug discharge (can be clear or bloody) usually amniotic sac ruptures but not always

stage 1: dilation
stage 2: birth of baby
stage 3: birth of placenta

stages of labour (detailed):
* latent phase (0-3cm) amniotic cavity still intact [encourage woman to keep mobile/walk around]
* active phase (4-7cm) established labour phase (amniotic sac/water has BROKEN) contractions very close together= 45-60secs
* transition phase (8-10cm dilation) = contractions are slightly further apart 60-90secs
* complete phase (10cm)

n.b. epidurals seem to slow dilation but depends when given

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58
Q

what is cardiotocography; what do the following stages indicate

-acceleration
-early deceleration
-late deceleration
-variable deceleration

A

cardiotocography= continuous fetal heart rate monitoring while in labour

n.b. A small degree of VARIABLE DECELARATION IS NORMAL.
EARLY DECELRATION IS FINE but LATE IS SUPER DANGEROUS (remember this as good to be early for dinner but never be late)

-acceleration; sympathetic activation in response to fetal movement or scalp stimulation

-early deceleration; parasympathetic response to head compression

-late deceleration; vagal stimulation or myocardial depression from placental insufficiency; late decelerations + bradycardia emergency C-section

-variable deceleration; abrupt decrease with rapid recovery from cord compression

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59
Q

what is fetal distress and what is the treatment?

A

fetal distress= when fetus has either irregular heartbeat, insufficient o2 or low amniotic fluid or meconium-stained amniotic fluid.

n.b. fetal distress more likely to occur in pregnancies that last 42+wks

treatment for fetal distess:
-changing mother’s position
-increasing maternal hydration
-maintaining oxygenation for mother
-amnioinfusion (fluid inserted into amniotic cavity to relieve pressure on umbilical cord)
-IV hypertonic dextrose (reduces 1st stage of labor)

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60
Q

what is tocolytic therapy

A

Tocolytic therapy is the use of medications to delay preterm birth by suppressing uterine contractions

-COX inhibitors
-OXT receptor antagonists
-MgSO4
- Ca2+ channel blockers

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61
Q

what is define as prolonged labour for
1st birth vs after a previous birth

A

1st birth= anything above 20hrs is prolonged labour

after a previous birth e.g. 2nd,3rd etc.= over 14hr is prolonged labour

(according to Friedman scale)

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62
Q

do you use forceps or ventouse for babies in breech position; explain ur choice?

A

forceps for baby in breech position

Forceps provide a firm grip on the baby’s head, which is especially important in breech deliveries where the head is the last part to be delivered.

In a breech position, the baby’s head may need careful maneuvering to avoid injury. Forceps give the healthcare provider more precision.

N.B. Breech babies are often delivered via C-section because it is generally safer than a vaginal breech delivery.

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63
Q

what is perinatal asphyxia? what is APGAR score/sign

A

perinatal= immediately before or after birth (this case after)

perinatal asphyxia= failure to initiate + sustain breathing at birth

low APGAR score (0-3 for more than 5 minutes) at birth

APGAR sign: (high is good, low is bad)
-appearance
-pulse
-grimace
-activity
-respiration

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64
Q

on average, how much blood do women lose during vaginal delivery of a single baby; vs how much in c-section

A

vaginal delivery= 500 ml blood lost

c-section= 1,000ml blood lost

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65
Q

define

-low birth weight

-very low birth weight

-extremely low birth weight

-normal birth weight

-prematurity

A

low birth weight= 2,499g or less regardless of gestational age

very low birth weight= below 1,500g

extremely low birth weight= below 1,000g

normal birth weight at term 2,500-4,200g

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66
Q

What are the 3 types of IUGR (Intrauterine Growth Restriction) and its causes

A

IUGR= fetus w birth weight less than 10th percentile of those born at same gestational age

n.b. 2 standard deviations below population mean are considered growth restricted

Type 1 IUGR:
- head not spared
-symmetrical/intrinsic IUGR
-20%
-growth inhibition in early pregnancy (hyperplastic stage; 4-20wks)
-all paramaters; head + abdo circumference, length + weight are below 10th percentile

etiology: genetic, infection, multiple gestation, environmental toxins

Type 2 IUGR:
-head spared (brain growth normal)
-asymmetric IUGR
-associated w oligohydramnios
-70-80%
-result of restricted in utero nutrient supply/ uteroplacental insufficiency
-growth restriction after wk 28 (hypertrophy stage of pregnancy)

etiology; maternal hypertension + pre-eclampsia, renal disease, vasculopathies

Type 3 IUGR (combo of type 1+ 2); fetal growth restriction happens in hyperplasia and hypertrophy stage

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67
Q

what is lupus nephritis

A

Lupus nephritis occurs when lupus autoantibodies affect parts of the kidneys that filter out waste (glomeruli)

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68
Q

how do we diagnose IUGR (intrauterine growth restriction) during pregnancy?

A

1) identify mothers at risk:
-poor maternal nutrition (low BMI at conception, poor maternal weight gain during pregnancy)
-pre-eclampsia
-renal disorders
-diseases causing vascular insufficiency
-infections (TORCH)

2) clinically:
-serial measurement of fundal height + abdominal girth; symphysio-fundal height norm increases by 1cm per week after wk14

-baby head to abdomen ratio

diagnostic tools:
doppler ultrasound for umbilical artery, middle cerebral artery, cerebral/placental ratio

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69
Q

what is necrotising enterocolitis (NEC)

A

Necrotizing enterocolitis (NEC) is a life-threatening condition that causes inflammation and tissue death in the small or large intestine of a baby:

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70
Q

what is a preterm baby, what does a preterm babies prognosis depend on/

A

preterm= born <37wks

extremely preterm= <28wks

long term prognosis depends on gestational age at birth

preterm birth is main cause of neonatal mortality in UK

vitamin D level of the mother of >40ng/ml reduces incidence of pre-term birth by 60%

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71
Q

what is respiratory distress syndrome?

A

RDS is often seen in preterm neonates; when lungs fail to produce enough surfactant (reduces surface tension in alveoli)= RDS leads to lung collapse, impaired gas exchange + breathing difficulties

RDS:
- hyaline membrane disease
- underdeveloped parenchyma + type II pneumocyte (therefore surfactant) deficiency

results in DECREASED lung compliance

causes; prematurity, maternal diabetes, C-section without labor (as stress hormones stim surfactant production)

treatment: antenatal corticosteroid e.g. betamethazone or dexamethazone to women at risk of preterm delivery

when RDS bby born give CPAP (continuous positive airway pressure)

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72
Q

what it is the puerperium

A

puerperium=
-from time of delivery until 8 wks
-time taken for uterus to involute
-ends when most of physiological changes of pregnancy have returned to pre-pregnancy state
-lactation + psychological changes continue after 7 wks

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73
Q

what is the leading direct cause of death in mothers post partum?

A
  • thrombosis or thromboembolism

what is the difference between thrombosis and thromboembolism?
Thrombosis is the formation of a blood clot (thrombus) inside a blood vessel, which can partially or completely block blood flow.

Thromboembolism occurs when a part of a thrombus breaks off, forming an embolus, which travels through the bloodstream and blocks another vessel.

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74
Q

uterine involution takes place after birth of baby, this is usually at a rate of 1cm/day. What factors delay this rate?

A

uterine involution is delayed if:
-full bladder
-loaded rectum
-uterine infection like endometritis or parametritis
-retained products of conception e.g. placenta
-fibroids
-broad ligament hematoma

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75
Q

what is the main cause of postpartum haemorrhage (PPH); how do we treat it?

A

main cause of PPH is uterine atony (marked hypotonia, uterus flaccid after detachments of all parts of placenta, brisk venous bleeding)

uterine atony is associated with polydramnios, macrocosmic fetus, multifetal pregnancies,

-uterus is overstretched in these cases and contracts poorly

prevention of PPH:
-tranexamic acid (cheap drug) and reduces bleeding, u need to use it asap after birth every 15min delay effectivity falls. by 10% after 3 hrs postpartum transexamic completely ineffective

treatment:
-bimanual uterine massage
-oxytocin agents + prostaglandins to induce uterine contractions to try and close off those spirally arteries
-surgery= suture tears, bakri balloon, B-lynch, uterine artery embolisation.

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76
Q

what is the difference between endometriosis and endometritis? Mention how we treat each.

A

endometriosis- A chronic condition where tissue similar to the endometrium (uterine lining) grows outside the uterus, such as on the ovaries, fallopian tubes, or pelvic organs.

Treatment for endometriosis:
-Pain Management: NSAIDs, hormonal therapies (e.g., birth control pills, progestins, GnRH agonists).
-Surgical Intervention: Laparoscopy to remove or destroy endometrial-like tissue.
-Lifestyle Changes: Diet, stress management, and exercise.

Endometritis is inflammation or infection of the endometrium, usually due to bacterial infection.

Often caused by an infection, including:
Postpartum or post-abortion complications.
Pelvic inflammatory disease (PID) from sexually transmitted infections (STIs), such as chlamydia or gonorrhea.
Retained products of conception or foreign objects (e.g., an intrauterine device, IUD).

Treatment for endometritis:
-Antibiotics: Broad-spectrum antibiotics for bacterial infection.
-Surgical Management: Removal of retained tissue if present (e.g., dilation and curettage, D&C).

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77
Q

what is lochia?

A

Lochia is vaginal discharge after childbirth. It consists of blood, mucus, uterine tissue and other materials from your uterus. There are three stages of lochia bleeding. Bleeding is heavy for the first few days but tapers off over several weeks

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78
Q

What is thromboembolic disease? Definition, predisposing factors, signs+ symptoms, treatment, complications

A

Thromboembolic disease (e.g. DVT or PE) refers to conditions where a blood clot (thrombus) that may obstruct blood flow in a blood vessel or break loose, traveling through the bloodstream as an embolus and causing blockage elsewhere.

predisposing factors:
-slowing of blood in legs (venous pooling)
-trauma to veins (endothelial dysfunction)
-hypercoagulation
-cytokine surge
-pre-eclampsia + hypertension
-obesity

signs + symptoms:
-sudden onset of pain
-tenderness of calf
-redness + increased skin temp
-positive Homan’s sign (calf pain at dorsiflexion of the foot)

treatment:
-heparin (does not cross into breast milk)
-good hydration

complication;
-pulmonary emboli (DVT can go to the lungs)

79
Q

what is Homan’s sign?

A

Homans’s sign is often used in the diagnosis of deep venous thrombosis of the leg. A positive Homans’s sign (calf pain at dorsiflexion of the foot) is thought to be associated with the presence of thrombosis.

80
Q

St John’s wort is a herbal medicine used to treat mental health problems. Is it safe during pregnancy? And what drugs does it interact with in non-pregnant individuals

A

st John’s wort is not safe during pregnancy as has been shown to impact fetal development

St. John’s Wort interacts with many medications by inducing liver enzymes (cytochrome P450), which can reduce the effectiveness of drugs such as:
Antidepressants.
Birth control pills.
Blood thinners (e.g., warfarin).
Anticonvulsants.

81
Q

what 2 ‘medical’ causes of depression do you exclude before treating a patient with depression?

A
  • thyroid dysfunction

-anaemia

82
Q

mothers prescribed valproic acid + carbamazepine should avoid breastfeeding, why? Also, how do antipsychotics effect breastfeeding?

A

valproic acid, carbamazepin antipsychotics are linked with hepatotoxicity in infant

-lithium is ok but needs close monitoring

how do antipsychotics effect breastfeeding?
-Antipsychotics inhibit dopamine which INCREASES prolactin which increases milk production= can lead to unexpected lactation even in women who aren’t breastfeeding (galactorrhea)

82
Q

most carcinomas arise from what zone of the prostate?

A

most carcinomas arise from the peripheral zone of the prostate

83
Q

BPH (benign prostate hyperplasia) arises from what zone of the prostate

A

BPH (benign prostate hyperplasia) arises from the transitional zone of the prostate

84
Q

What is a trichrome stain used for?

A

Used to differentiate between collagen and smooth muscle in tumors, and the increase of collagen in diseases such as cirrhosis.

85
Q

what is the PSA test used for

A

The PSA test is a blood test that measures the amount of prostate specific antigen (PSA) in your blood. It can help to diagnose prostate cancer.

86
Q

what is a teratoma

A

teratoma= a tumour composed of tissues not normally present at the site

87
Q

what is the difference in treatment + prognosis between seminoma tumours and nonseminoma tumours

A

Seminoma tumours are usually treated with radiotherapy and have a very good prognosis with over 95% patients cured w orichdectomy or radiotherapy

Nonseminoma tumours are treated with aggressive chemotherapy and are often detected at advanced clinical stage showing both vascular + lymphatic spread

88
Q

what is a normal fetal heart rate?

A

A normal fetal heart rate is between 110-160 bpm.

89
Q

a 32 yr old woman at 24 week antenatal visit; her BP is 170/95mmHg and +++ protein in urine is admitted to hospital what is her diagnosis?

A

pre-eclampsia (high BP + proteinuria)

normal BP for preg woman: SYS 110 to 139 and DIA 70 to 89

90
Q

Women with preeclampsia HAVE LOW LEVELS OF PlGF. What cells make PlGF?

A

PlGF (placental growth factor) is made by trophoblast cells

91
Q

a 50 y.o. woman presents w abnormal vaginal bleeding. The bleeding she notices after intercourse. What STD is most likely to have caused this?

A

HPV16 (Human Papilloma Virus 16)

92
Q

A 27 y.o. has primary postpartum hemorrhage. She had polyhydramnios during pregnancy. What is the most likely cause in this case?

A

Uterine atony (overstretch uterus so muscles cells have been overstretched so hard for them to ‘bounce back’ and contract to normal)

93
Q

What is the APGAR score and what is it used for?

A

APGAR score is a quick assessment on a newborn immediately after birth to evaluate their condition and whether they require immediate medical care

The APGAR score evaluates five parameters: Appearance, Pulse, Grimace, Activity, and Respiration, each scored from 0 to 2, with a total possible score of 10.

n.b. typically measured at 1 minute and 5 minutes after birth, with a third assessment sometimes done at 10 minutes if the baby’s condition remains concerning

94
Q

what is a quadruple test vs a combined test used for and how do they work?

A

both are non-invasive prenatal screening tests which asses risk of chromosomal abnormalities

Combined test (more accurate)
- 11-14 wks (1st trimester)
-nuchal translucency + blood test taken
- measures beta-hCG + PAPP-A
-tests for Down, Edwards + Patau

Quadruple test (less accurate)
- 15-22wks (2nd trimester)
-blood test (AFP, hCG, uE3, Inhibin A)
-tests for Down + Edwards

95
Q

Why might the nuchal translucency measurement not be possible?

A

Technical issues: Poor visibility during the ultrasound due to fetal position or maternal factors such as a higher BMI.

Timing issues: The combined test is typically performed between 11 and 14 weeks of pregnancy. If this window is missed, the nuchal translucency cannot be measured.

96
Q

how is uE3 (unconjugated estriol) produced by fetus + placenta?

A

Fetal Liver: The fetus produces 16-alpha-hydroxy-DHEA-sulfate (16α-OH-DHEA-S), a precursor to estriol.
Placenta (Syncytiotrophoblasts): The syncytiotrophoblasts in the placenta convert this precursor into unconjugated estriol (uE3) through enzymatic processes.

97
Q

The levels of PLGF are used to confirm a diagnosis of pre-eclampsia. What is the normal role of PLGF in placenta?

A

PlGF is abnormally low in women with preeclampsia as compared to their gestational age-matched controls

PLGF role is to develop new blood vessels

PLGF (Placental Growth Factor) plays a key role in angiogenesis and the development of the placental vasculature to ensure adequate oxygen and nutrient delivery to the fetus.

98
Q

can you tell me the cell type (histology) the cells are in the;

-endocervix
-ectocervix
-vagina

A

endocervix= simple columnar mucus cells

ectocervix= stratified squamous epithelium

vagina= stratified squamous non-keratinized epithelium. Numerous nerve endings

99
Q

what type of glands are the mammary glands?

A

mammary glands are apocrine glands (cuz they secrete protein and lipid)

— Apocrine glands are structures within your skin that produce and secrete different bodily substances like thick, oily sweat, breastmilk and earwax

100
Q

when does a fetus heartbeat start?

A

22 days after conception or 5wks + 1 day gestation

101
Q

what is gestational age and how is it calculated; why is it different to time since conception?

A

gestational age is calculated from the first day of last menstrual period (LMP) NOT from actual day of conception

LMP is usually 2 wks before ovulation + conception in a 28 day menstrual cycle

102
Q

what is the most common congenital heart defect?

A

VSD= ventricular septal defect

but they spontaneously close within the 1st year of life (90%)

103
Q

What is Persistent Pulmonary Hypertension of Newborn (PPHN) characterised by, what is it usually a consequence of + what is the treatment!

A

Persistent Pulmonary Hypertension of Newborn (PPHN) is characterised by elevated pulmonary vascular resistance resulting in right-to-left shunting of blood and hypoxemia

PPHN is secondary to parenchymal disease e.g. meconium aspiration syndrome, respiratory distress syndrome, lung hypoplasia (congenital diaphragmatic hernia or oligohydramnios) but can be IDIOPATHIC

Treatment:
-manage underlying cause + mechanical ventilation
-inhaled NO
-Prostaglandin: PGE1 or PG12
- others; sildenafil, milrinone

104
Q

define the following:
-miscarriage
-stillbirth
-neonatal death
-infant death

A

-miscarriage; pregnancy loss <24 weeks

-stillbirth: baby born >24 weeks with no signs of life

-neonatal death: baby born live but dies in first 28 days of life

-infant death: death in first year of life

105
Q

what is meningocele/ myelomeningocele (forms of spina bifida)

A

Spina bifida occulta is the mildest form of spina bifida. Meningocele forms when the bones of the spine (vertebrae) do not close completely, and the meninges protrude in a sac through the hole that is formed. Myelomeningocele is the most severe form of spina bifida.

causes: unknown rlly but a lack of folic acid, exposure to viruses, exposure to radiation, and/or genetics

106
Q

2 abdominal wall defects you need to know is GASTROSCHISIS and EXOMPHALOS/ OMPHALOCELE explain both.

A

Gastroschisis= bowel free within amniotic cavity usually to the right of umbilical cord; full thickness defect in abdominal wall lateral to umbilicus
- reduction + surgical closure possible via silo
- risk factor is YOUNG maternal age

Exomphalos/Omphalocele= failure of umbilicus to close completely combined with failure of mid-gut to herniate back into abdominal cavity fully
-linked to other genetic probs
-risk factor is INCREASED maternal age

107
Q

what is the difference between cleft lip and cleft palate

A

cleft lip= (common defect) failure of maxilla to fuse with medial nasal prominence

cleft palate= (common defect) failure of palatal shelves to fuse from maxillary prominences; tongue too large

108
Q

what is the difference between pertussis and croup

A

Whooping cough is a bacterial infection whereas a viral infection usually causes croup.

Both conditions cause a distinctive cough, although the sound of whooping cough is a more high-pitched gasping or “whooping” noise

109
Q

what is Osteogenesis imperfecta; causes, signs/symptoms + treatment

A

Osteogenesis imperfecta is caused by mutations in genes COL1A1 and COL1A2 responsible for collagen production– leading to insufficient or defective type I collagen production

Signs/symptoms= bone fragility, bone deformity, blue sclerae, hearing loss, dentinogenesis imperfecta (weak/brittle teeth), respiratory issues due to chest wall deformities + reduced lung capacity

Treatment; biphosphates or intramedullary rodding

110
Q

What is Down Syndrome; what are the 3 subtypes? Explain the different screening vs diagnostic tests

A

Down syndrome is a genetic condition caused by an extra copy of chromosome 21 (trisomy 21). It leads to developmental delays, intellectual disabilities, and distinct physical features.

Subtypes:
-95% DS individuals have trisomy 21, which means presence of extra copy of chromosome 21 in all cells
-4% have extra copy of chromosome 21, because of Robertsonian translocation (extra copy of chromosome 21 on chromosome 14, one of chromosome 14 loses short arm + that’s replaced by chromosome 21)
-1% have mosaicism w normal + trisomy 21 cell lineages= mixture (usually have MILDER features as presence of normal cells– occurs postzygotically {after fertilisation}

Screening tests (evaluate risk);
-Combined Test (11–14 weeks): Nuchal translucency (above 4.4mm cuz [DS babies have increased haluronic acid in extracellular matrix, attratcing H2O in increasing fluid at back of
+ blood tests for PAPP-A and beta-hCG.

-Quadruple Test (15–20 weeks): Measures AFP, hCG, uE3, and inhibin A.

-Non-Invasive Prenatal Testing (NIPT): Analyzes fetal DNA in maternal blood.

Diagnostic tests (diagnose Down syndrome)
-Chorionic Villus Sampling (CVS): Collects placental tissue (~10–14 weeks).
-Amniocentesis: (~15–20 weeks) Gen.testing of cells from amniotic fluid sample (1 in 100 miscarriage risk)

111
Q

what is hydrops fetalis? + mention some general causes

A

Hydrops fetalis= severe swelling (oedema) in an unborn baby or a newborn baby

There are three main causes for this type, heart or lung problems, severe anemia (such as from thalassemia or infections), and genetic or developmental problems, including Turner syndrome

112
Q

Labetalol (beta-2 blocker) is usually the first line med for pre-eclampsia management; what medication is used for asthmatic pre-eclamptic mothers instead and why?

A

pre-eclampsia + asthma= choice of antihypertensive medication NOT labetalol as it can exacerbate asthma symptoms by blocking beta-2 receptors, potentially causing bronchoconstriction.

first line for asthma and pre-eclampsia= NIFEDIPINE (calcium channel blocker)

113
Q

what is the difference between adjustment disorder and PTSD

A

Adjustment disorder is straight after ‘the big change’ whereas PTSD happens 6 months later

114
Q

NICE guideline for ADHD in children treatment

A

1st line Non-pharmacological treatment

pharmacological 2nd step offer methylphenidate/ aka ritalin (short or long-acting) for children aged 5 yrs

primary skl kids give short acting as they only need to concentrate in school day
whereas

If poorly tolerated is LISDEXAMFETAMINE

115
Q

Discuss the difference between a lesion, impairment, disability + handicap (old terminology useful to know however note well that now this is not a linear scale it depends on environment)

A

lesion= any pathological or traumatic disconuity or loss of function of a part

impairment= any loss or abnormality of psychological, physiological or anatomical structure or function (e.g. paralysis of the legs)

disability= any restriction or lack (resulting from impairment) of ability to perform an activity in the manner or within the range considered normal for a human being (e.g. inability to walk)

handicap= the impact of the impairment or disability on the person’s pursuit or achievement of the goals which are desired by him/her or expected of him/her by society (e.g. unable to work in a job that requires mobility)

116
Q

Explain the timeline of developmental milestones in children

A

6wks:
- if no visual fixation or following; always refer to ophthalmology
- responds to sound
-raises head when hand on tummy
- has primitive grasp reflex

3 months
-smiles at ppl
-open + close hands

6-8 months:
-uses raking grasp
-not reaching for things
-persistence of primitive reflexes
-lack social response
-rolls over from tummy to back

9 months
-straight back sitting without support

12 months:
- walks alone
- unable to sit or bear weight when standing
- no babble
- absence of saving reactions

18 months:
-runs
-jumps

2 years:
- run tiptoe
- throw ball at shoulder level
- kicks ball

4 years:
-walk upstairs like adult

117
Q

what is the difference between isolated vs global developmental delay (GDD). Name the different developmental areas

A

isolated developmental delay= only 1 developmental aspect affected

global developmental delay (GDD)= 2 or more developmental areas affected

GDD is an intellectual disability diagnosed when individual is under 5 showing clear signs of developmental delay but cannot be evaluated for more specific diagnosis because of age

n.b. speech delay effects 20% of children

Developmental areas:
- gross motor
- fine motor
-vision
-language (speech; expressive, receptive, gesticular) + hearing
-social + self help

118
Q

Diphtheria is a serious bacterial exotoxin secreted by Corynebacterium diphtheriae. What symptoms does it cause and what is its treatment (NICE)

n.b. diphtheria toxin (A + B subunits) inhibits protein synthesis

A

symptoms:
-‘bull neck’
- sore throat
- fever
- difficulty swallowing (dysphagia)
-paralysis
- pseudomembrane formation: A thick, grayish, firmly adherent membrane forms over the tonsils and throat, which can obstruct the airway.
-diplopia

treatment:
- DAT (Diphtheria Antitoxin) IV
+ antibiotic
1st line in community= Clarithromycin or Azithromycin

OR if very severe in hospital= IV Benzylpenicillin

119
Q

Explain the pathogenesis of meningococcal disease. What is meningitis vs septicaemia. The following pathogens cause meningitis + septicaemia:

  • streptococcus pneumoniae
    -neisseria meningitidis; Group B + C
    -Haemophilus influenzae B (HiB)
A

Meningococcal disease is a severe infection caused by the bacterium Neisseria meningitidis, also known as the meningococcus. It primarily manifests as:

Meningitis: Inflammation of the protective membranes covering the brain and spinal cord (meninges).
Septicemia: A bloodstream infection that can cause widespread inflammation and organ damage.

The endotoxin LPS (Lipooligosaccharide) causes inflammatory cascade (IL6, TNF-alpha):
- which damages the endothelial lining of blood vessels= capillary leak + shock
- coagulopathy
-myocardial depression

symptoms of Meningitis:
Fever.
Headache.
Nausea/vomiting.
Stiff neck (nuchal rigidity).
Sensitivity to light (photophobia).
Altered mental status (confusion, lethargy, seizures)

symptoms of Septicaemia:
Fever and chills.
Fatigue, malaise.
Rapid heart rate and low blood pressure (shock).
Cold, pale, or mottled skin.
Characteristic purpuric or petechial rash: Non-blanching, dark purple spots due to vascular damage.

120
Q

what is definition of fever?

A

anything above 37.8 degrees (axillary or rectal core)

In ear its 36.2-37.7 degrees is normal.

121
Q

what immune defects predispose patient to pneumococcal infection? Then tell me the clinical features of pneumococcal infection

A
  • absent/ non-functional spleen
    e.g. congenital asplenia, traumatic removal, hyposplenism (sickle cell)
  • hypogammaglobulinaemia
    -HIV infection

clinical features of pneumococcal infection:
non-invasive; acute otitis media (ear infection), sinusitis, conjunctuvitis, pneumonia

invasive; septicaemia, meningitis, peritonitis, arthritis, osteomyelitis

for the non invasive symptoms u give oral antibiotics, for invasive symptoms u give IV antibiotics

122
Q

what diagnostic technique is used to diagnose viruses?

A

Most viral diagnosis made by polymerase chain reaction (PCR)

123
Q

explain the symptoms of community-acquired pneumonia vs hospital acquired pneumonia (cuz presence of MDR pneumonia in hospitals); NICE guidelines for treatment

A

Symptoms of community-acquired pneumonia include:
-Cough: Often productive, producing sputum.
-Fever: A high temperature is typical.
-Breathlessness: Shortness of breath or rapid breathing.
-Chest pain: Usually sharp and worsens with deep breathing or coughing.
-Fatigue: General feeling of tiredness or weakness.
-Confusion: Particularly in older adults.
-Rigors or night sweats: Episodes of shaking chills.
-Myalgia: Muscle aches.
-Anorexia: Loss of appetite.

Treatment
For community-acquired pneumonia, amoxicillin is often recommended as the first-line treatment, with alternatives like doxycycline or clarithromycin for those allergic to penicillin

HOSPITAL ACQUIRED PNEUMOIA (HAP) is treated w even more caution as can be MDR Pneumonia
Extra symptoms:
-pus producing cough
-tachypnea (> 20 breaths per min)
-hypoxemia
-severe pleuritic chest pain worsened when breathing/coughing

Mild HAP (non-severe, no MDR risk):
-Co-amoxiclav (amoxicillin-clavulanic acid) or
Piperacillin-tazobactam for broader coverage.
-Alternatives for penicillin allergy: Doxycycline or Levofloxacin.

Severe HAP or MDR risk factors:
-Antipseudomonal β-lactams like piperacillin-tazobactam, meropenem, or cefepime.
-Add vancomycin or linezolid if methicillin-resistant Staphylococcus aureus (MRSA) is suspected.
-Consider aminoglycosides or colistin for suspected gram-negative MDR pathogens.

124
Q

when talking about viral infections, what do we mean by chronicity vs latency

A

Chronicity= persistence of virus; remains in body for months-years w/o being cleared

Latency= Refers to the virus entering a dormant state within host cells, where it does not actively replicate or cause symptoms but can reactivate later

125
Q

What is hyper IgM syndrome? What causes it?

A

Hyper IgM syndrome is due to mutation of CD40 or CD40L ligand

Hyper IgM syndrome; they can produce normal amounts of IgM but they can’t class switch which means they’re super immunocompromised

126
Q

Define antigen and adjuvant. How does a vaccine work?

A

antigen= substance that activates an immune response

adjuvant= increase immunogenicity of vaccines that contain inactivated antigens. Activate pattern recognition receptors (PRRs)

N.B. B and T cell memory is the basis for vaccination, vaccines stimulate adaptive immunity

How does a vaccine work?
1) Vaccine injected into muscle and taken up by dendritic cells (DC)
2) DC also activated by adjuvant
3) DC move to secondary lymphoid organs for activation of T cells
4) Activated CD4 T cells help activate B cells for antibody production
5) Memory cells are formed and respond quickly if same antigen encountered

127
Q

which immunoglobulins help us know if infection was recent or past

A

IgM comes first, then IgG in response to infection (remember like mg)
the infection is recent as IgM levels are high

n.b. if IgG levels high infection likely to have been a long time ago

128
Q

what are the 5 functions of an antibody

A

1) agglutination= clump pathogens together by binding to them all at once

2) Antibody dependant cellular cytotoxicity (ADCC) to activate cytotoxic cells

3) Complement dependant cytotoxicity (CDC) to lyse pathogens or infected cells
= Antibodies trigger the complement system, a group of proteins in the blood that enhance the immune response by creating holes in the pathogen’s membrane (lysis) or making the pathogen easier to eat (phagocytosis).

4) Opsonisation for antibody dependant cellular phagocytosis (ADCP)= Antibodies coat the surface of pathogens, marking them for destruction by immune cells like macrophages and neutrophils.

5) Neutralisation of viral particles or bacterial toxins

129
Q

When is Diptheria, tetanus, pertussis, polio, Haemophilus influenzae type b and hepatitis B given? Describe the schedule from birth- 1 year old.

(DTaP/IPV/Hib/HepB)

A

8wks, 12wks, 16wks= Diptheria, tetanus, pertussis, polio, Haemophilus influenzae type b and hepatitis B

3yrs 4 months= Diptheria, tetanus, pertussis + polio

14 years= tetanus, diphtheria + polio

130
Q

When is Meningiococcal + pneumococcal ppl vaccinated

A

8wks, 16wks, 1year= Meningococcal group B

1 year= Meningococcal group C (Hib)

14 years= Meningococcal groups A,C,W + Y

12wks, 1 yr= Pneumococcal (13 serotypes)

131
Q

what is the causative pathogen of impetigo; symptoms + treatment

A

causative pathogen of impetigo; staphylococcus aureus

symptoms; fluid filled blisters that have honey crusted exudate

Impetigo causes sores or blisters that burst and leave crusty, golden-brown patches. They can look a bit like cornflakes stuck to your skin

Treatment:
First Choice: Consider hydrogen peroxide 1% cream applied two or three times daily for 5 days.
NICE
If Unsuitable or Ineffective: Offer a short course of a topical antibiotic, such as fusidic acid 2% cream applied three times daily for 5 days.

132
Q

what is the surface marking for the deep inguinal ring?

A

The surface marking of the deep inguinal ring (DIR) is the mid-inguinal point (MIP)

mid-inguinal point is defined as the point halfway along a line between the anterior superior iliac spine and the top of the pubic symphysis

133
Q

which structures pass through the deep inguinal ring in males vs females

A

males: spermatic cord, ilioinguinal nerve

female: round ligament of uterus, ilioinguinal nerve

134
Q

which artery supplies the testes; from which vessel does it branch?

A

The testicular artery branches directly from the abdominal aorta.
It typically arises at the level of L2, just inferior to the renal arteries.

135
Q

where is testicular pain referred?

A

Testicular pain is often referred to the lower abdomen, inguinal region, or inner thigh

The testes are innervated by the sympathetic fibers from the T10–T11 spinal cord segments.

136
Q

where does lymph from the testes vs scrotum drain?

A

testes lymph drains into para-aortic lymph nodes (aka lumbar lymph nodes)

scrotum drains through superficial inguinal lymph nodes

137
Q

name the plexus of veins which drains the testes. How is this plexus involved in regulating testicular temperature?

A

pampiniform plexus is a network of interconnected veins that surrounds the testicular artery within the spermatic cord

It eventually coalesces to form the testicular vein:
The right testicular vein drains into the inferior vena cava.
The left testicular vein drains into the left renal vein.

Countercurrent Heat Exchange:
The plexus surrounds the testicular artery, which carries warm blood from the abdomen to the testes.
As the arterial blood passes through the plexus, heat is transferred from the artery to the cooler venous blood returning from the testes.
This mechanism cools the blood entering the testes and helps maintain the ideal temperature for sperm production, approximately 2–3°C below core body temperature.

Heat Dissipation:
The extensive network of veins in the plexus increases the surface area for heat exchange, enhancing the cooling effect.

138
Q

what is varicocele vs hydrocele vs hematocele?

A
  1. Varicocele: (varicose veins on testes)
    Definition: Abnormal dilation of the veins of the pampiniform plexus (veins draining the testes).
    Cause:
    Primary: Valve insufficiency in the veins.
    Secondary: Compression of the testicular vein (e.g., due to a tumor or mass).
    More common on the left side due to the left testicular vein draining into the left renal vein at a right angle.
    Content: Dilated and tortuous veins filled with blood.
    Symptoms:
    Often asymptomatic.
    May cause a “bag of worms” sensation on palpation.
    Can result in scrotal heaviness or discomfort, especially with standing.
    Associated with infertility due to increased testicular temperature.
    Diagnosis: Physical exam, Doppler ultrasound.
    Treatment: Conservative or surgical (e.g., varicocelectomy or embolization).
  2. Hydrocele
    Definition: Accumulation of serous fluid within the tunica vaginalis surrounding the testicle.
    Cause:
    Congenital: Due to a patent processus vaginalis, allowing peritoneal fluid to flow into the scrotum.
    Acquired: Trauma, infection (e.g., epididymitis), or tumor.
    Content: Clear, straw-colored fluid.
    Symptoms:
    Painless scrotal swelling.
    May transilluminate (light passes through the fluid-filled scrotum).
    Diagnosis: Clinical examination, transillumination, ultrasound for confirmation.
    Treatment:
    Observation (if asymptomatic).
    Aspiration or surgical repair (e.g., hydrocelectomy) if symptomatic or persistent.
  3. Hematocele
    Definition: Accumulation of blood within the tunica vaginalis surrounding the testicle.
    Cause:
    Trauma to the scrotum (e.g., blunt or penetrating injury).
    Post-surgical complications (e.g., following hernia repair).
    Content: Blood.
    Symptoms:
    Painful scrotal swelling.
    Does not transilluminate due to the presence of blood.
    Scrotum may appear bruised or discolored.
    Diagnosis: Clinical examination, ultrasound to confirm and rule out associated injuries.
    Treatment:
    Conservative (if small and stable).
    Surgical exploration (if large, expanding, or associated with testicular injury).
139
Q

What are the 2 layers of muscle in the scrotum + their innervation

A

1) dartos muscle (involuntary, smooth muscle) innervated by sympathetic fibres from genitofemoral nerve and posterior scrotal branches.

2) cremaster muscle (skeletal, voluntary muscle) innervated by genital branch of genitofemoral nerve (L1-L2)

140
Q

what is the homologue of the scrotum in women

A

labia majora

141
Q

what nerve innervates the external urethral sphincter?

A

perineal branch of pudendal nerve (S2–S4) directly innervates the external urethral sphincter.

142
Q

What are haemorrhoids; why are internal haemorrhoids painless?

A

haemorrhoids (Aka piles)= lumps inside + around anus

internal haemorrhoids are painless because they are below pectinate/dentate line and therefore lack somatic innervation from pudendal nerve so no pain, touch, temperature ONLY thing that can be felt is stretch, pressure, or distension.

143
Q

how does venous drainage differ in the upper and lower regions of the anal canal. What is the clinical significance of this?

A

Above the Dentate Line:
Drained by the superior rectal vein into the portal venous system.
Clinical significance: Portal hypertension can cause internal hemorrhoids, which are painless due to visceral innervation.

Below the Dentate Line:
Drained by the inferior rectal vein into the systemic venous system via the internal pudendal vein.

Clinical significance: Increased systemic venous pressure (e.g., from straining) can cause external hemorrhoids, which are painful due to somatic innervation.

Key Clinical Points:
Portal-Systemic Anastomosis: The middle rectal vein connects both systems, relevant in portal hypertension.
Cancer Metastasis: Cancers above the dentate line spread to the liver, while those below spread to the lungs.

144
Q

what factor is the main driver for growth

1) in infancy
2) in childhood
3) at puberty

A

1) in infancy= nutrition (+ IGF I + II, Insulin)

2) in childhood= growth hormone, T4

3) at puberty= sex steroids, GH, T4

145
Q

how do we calculate a target mid parental height

A

mid parental height is calculated:
F+M/2 + 6.5cm for boys

F+M/2 = 6.5cm for girls

146
Q

Subischial length is used to assess disproportionate height. What is subischial height defined as? How do you calculate an HtSDS

A

Subischial leg length is defined as the arithmetic difference between height and sitting height or between supine length and crown rump length.

HtSDS = (individual’s height - mean height of reference population) / standard deviation of reference population

av is somewhere in 50th centile

147
Q

what is achondroplasia vs hypochondroplasia

A
  1. Achondroplasia= most common form of dwarfism, caused by a mutation in the FGFR3 gene (fibroblast growth factor receptor 3).

Pathophysiology:
FGFR3 mutations lead to abnormal regulation of cartilage formation, impairing endochondral ossification, especially in long bones.
Results in shortened bone growth but normal axial skeleton development.

Features:
Disproportionate short stature: Short limbs with a relatively normal torso.
Characteristic facial features: Frontal bossing, midface hypoplasia.
Lumbar lordosis and bowing of the legs.
Possible complications: Spinal stenosis, foramen magnum compression.
Inheritance: Autosomal dominant, with most cases being de novo mutations.

  1. Hypochondroplasia= A milder form of skeletal dysplasia similar to achondroplasia but with less severe features.
    Pathophysiology:
    Also caused by mutations in the FGFR3 gene.
    Affects endochondral ossification, though less pronounced than in achondroplasia.
    Features:
    Disproportionate short stature with mild limb shortening.
    Normal facial features, unlike the distinctive appearance in achondroplasia.
    May go undiagnosed in mild cases.
    Inheritance: Autosomal dominant.
148
Q

what is Leri-Weill dyschondrosteosis (LWD)

A

LWD is an autosomal dominant skeletal dysplasia associated with mutations or deletions in the SHOX (short stature homeobox) gene in the pseudo autosomal region (PAR1) of the X and Y chromosome at Xp22.33 or Yp11.32. The SHOX gene is critical for normal growth and skeletal development

features:
-short stature
- meromelic (mid parts) limb shortening i.e. middle segments of the limbs (e.g., forearms and lower legs) are disproportionately shorter than the rest of the body.
-turner skeletal features
-reduced sub-ischial length
- Madelung deformity of forearm (bowing of radius, dorsal dislocation of the ulna, premature epiphyseal fusion,misalignment of wrist bones)

N.B. clinically not apparent before puberty

Diagnosis:
Clinical Evaluation: Physical examination may reveal characteristic skeletal features and disproportionate short stature.
Imaging Studies: X-rays are used to identify Madelung deformity and other skeletal abnormalities.
Genetic Testing: Analysis of the SHOX gene can confirm the diagnosis.

management:
Growth Hormone Therapy: In some cases, growth hormone treatment may help improve growth in childhood.
Orthopedic Interventions: Surgery may be considered to correct severe Madelung deformity or improve wrist function.
Physical Therapy: Can help improve mobility and reduce discomfort.
Pain Management: For individuals experiencing chronic wrist or limb pain

N.B. While LWD causes lifelong skeletal issues, it does not affect life expectancy.

149
Q

how does rickets effect height?

A

Rickets (vitamin D deficiency; but can also result from calcium or phosphate imbalances) can significantly impair a child’s growth and ultimate adult height, particularly if the condition is not diagnosed and treated promptly.

150
Q

what is madelung deformity of forearm; and what conditions is it seen in?

A

Madelung deformity of forearm (bowing of radius, dorsal dislocation of the ulna, premature epiphyseal fusion, misalignment of wrist bones)

Conditions u wld see Madelung deformity in:
-Leri-Weill dyschondrosteosis (LWD)
-Turners syndrome
-ISS (Idiopathic Short Stature)

151
Q

Where is human growth hormone (GH) produced, what is GH secretion stimulated vs inhibited by. What does Growth Hormone deficiency cause?

A

Human growth hormone (GH) is produced by the anterior pituitary gland

secretion is stimulated by growth hormone releasing hormone (GHRH) + inhibited by somatostatin (SST)

-GH is secreted in pulsatile manner in response to sleep, exercise + hypoglycaemia

-GH promotes growth indirectly by stimulating insulin like growth factors

Growth Hormone Deficiency (GHD) is characterised by decreased growth velocity + delayed skeletal maturation in the absence of other explanations; causes include:
-isolated
-coexists w other anterior pituitary deficiencies
-congenital (septo-optic dysplasia or ectopic posterior pituitary missing/underdeveloped)
-genetic (GH or GHRH gene mutation)
-acquired (craniopharyngioma, germinoma, histocytosis, or cranial irradiation)

N.B. GHD + hypopituitarism may be unrecognised until late in infancy or childhood as growth retardation may be delayed until later childhood

151
Q

Define the following:
-craniopharyngioma
-germinoma
-histocytosis
-cranial irradiation

A

Craniopharyngioma= a benign (non-cancerous) brain tumor that arises from remnants of the Rathke’s pouch, an embryonic structure involved in the development of the pituitary gland.

Histiocytosis= Histiocytosis refers to a group of rare disorders characterized by an abnormal accumulation of histiocytes (a type of immune cell derived from macrophages or dendritic cells).

Cranial Irradiation= Cranial irradiation is a type of radiation therapy specifically directed at the brain.

Germinoma= a type of germ cell tumor that arises from germ cells (cells that develop into eggs or sperm) and is typically malignant.

152
Q

what is the difference between familial short stature vs constitutional growth delay

A

familial (genetic) short stature:
-normal birth weight + length
-1st 2 years of life linear growth velocity slows as they near their genetically determined centile
- short height but appropriate for family
-normal bone age, normal growth velocity

constitutional growth delay (aka late bloomers)
-kids don’t necessarily have short parents
-growth pattern similar to those w familial short stature
DIFFERENCE
-delay in skeletal maturation
-delay in onset of puberty
-growth continues beyond the time when an average child stops growing
- family history of ‘late growth spurt’

153
Q

What is puberty. Explain delayed puberty vs precocious puberty definitions

A

Puberty starts 95%
-girls between 8-13 years
-boys between 9-14 years

Tanner divided puberty into 5 stages
Tanner stage 1: pre-puberty
Tanner stage 2: start of puberty
Tanner stage 5: sexual maturity

Puberty begins when gonadotrophin releasing hormone (GnRH) is produced + stimulates the pituitary to produce LH and FSH

delayed puberty: not started at 14 y.o; causes;
-constitutional delay of growth + puberty
-central hypogonadism
-permanent (central) hypoganadsism
-primary hypoganadism

precocious (early) puberty:
tanner stage 2 before age 8, boys age 9. MOST COMMON CAUSE IS PREMATURE PRODUCTION OF GnRH; treatment is give them more GnRH to overstimulate pituitary and desensitise it (negative feedback).. reverting it to tanner stage 1. Stop GnRH treatment when normal puberty range age hits. Stage 3 onwards is irreversible to treatment SO U HAVE TO CATCH THESE PATIENTS AT STAGE 2

n.b. GnRH is a puberty blocker

154
Q

What does the acronym TORCH stand for

A

TORCH is an acronym representing infections caused by Toxoplasma gondii, other agents, rubella, cytomegalovirus (CMV), and herpes simplex virus (HSV).

155
Q

what genes are associated with healthy ageing + longevity?

A
  • FOXO3A transcription factor = gen.variant associated w longevity (gives healthy ageing= longer life)
  • loss of function of PAI-1 (plasminogen activator inhibitor-1)= loss of PAI-1 associated w longevity; because PAI-1 activity causes cardiovascular disease

-APOE4 refers to one of the three major alleles (gene variants) of the APOE (apolipoprotein E) gene; APOE4 variant is associated w alzheimers and decreased lifespan

-CEPT gene said to be linked to longevity

n.b. important to know about these as one day cld be drugs that stimulate or switch off these genes= increasing lifespan

156
Q

what is Laron syndrome?

A

Laron syndrome, also known as growth hormone insensitivity syndrome (GHIS), is a rare genetic disorder characterized by insensitivity to growth hormone (GH). Despite normal or elevated levels of GH, individuals with Laron syndrome exhibit short stature due to a lack of response to the hormone

157
Q

What is Rapamycin and how does it promote longevity?

A

Rapamycin (macrolide compound antifungal agent) works by inhibiting the mechanistic Target of Rapamycin Complex 1 (mTORC1), a key regulator of cellular growth, metabolism, and aging

Rapamycin was prescribed for kidney transplant (v dangerous antibiotic tho)

Rapamycin
-reduced accumulation of senescent cells
-promotes mitochondiral biogenesis
-reduces ‘inflammaging’ (low grade inflammation which is a natural part of aging)
-NOT studied much in HUMANS but it is teratogenic

158
Q

what enzyme does metformin activate, and what is it currently being trialled for?

A

METFORMIN activates AMPK it is currently trialled as a longevity drug

159
Q

which types of HPV cause genital warts vs cervical cancer

A

HPV types 6 and 11 cause most cases of genital warts. They do not cause cancer of the cervix, vulva, anus or penis.

HPV types 16 and 18 can cause cell changes that may lead to cancer (mostly cervical)

160
Q

what do the following mean

  • oligomenorrhea
  • amenorrhea
  • polymenorrhea
  • menorrhagia
A

oligomenorrhea= a type of abnormal menstruation that involves infrequent periods

amenorrhea= absence of menstruation

polymenorrhea= very frequent periods

menorrhagia= heavy or prolonged menstrual bleeding

161
Q

what is a PSA test?

A

PSA= prostate specific antigen

PSA is secreted by the prostate (glandular part) into semen, but more is secreted in cancer than normal, and it is used by some as a screening test.

Anything that distorts architecture of the gland causes leakage of the PSA into lympho-vascular channels leading to a rise in blood levels

High PSA levels can indicate prostate cancer, infection (prostatitis) or an enlarged prostate.

normal PSA= 1-5 ng/ml

162
Q

What is the ovarian counterpart of seminoma (germ cell tumour)

A

The ovarian counterpart of seminoma is dysgerminoma.

Both seminoma (in the testes) and dysgerminoma (in the ovaries) are types of germ cell tumors, sharing similar histological features and clinical behaviour. They are characterized by:

-Originating from primordial germ cells.
-Being highly radiosensitive and chemosensitive.
-Having a generally favourable prognosis with appropriate treatment.

163
Q

what do the following terms mean in histology

  • dyskaryosis
  • myxoid
A

Dyskaryosis means abnormal nucleus

Myxoid means ‘mucus-like’

164
Q

When humans age, there’s a reduction in key neurotransmitters. Name the key ones responsible for the following losses;

  • memory decline
  • sleep disorders, movement problems
  • depression
A

memory decline= Acetylcholine (Ach)

sleep disorders, movement problems= Noradrenaline, Dopamine

depression= Serotonin

165
Q

What is McCune-albright syndrome (MAS)

A

McCune-Albright Syndrome is a rare genetic disorder caused by a post-zygotic (somatic) mutation in the GNAS gene, which encodes the stimulatory alpha subunit of G protein (Gsα). This mutation results in constitutive activation of G protein-coupled signaling pathways, leading to dysregulated hormone activity in various tissues.

MAS is classically defined by the triad of:

1) Polyostotic Fibrous Dysplasia:
Replacement of normal bone with fibrous connective tissue, causing bone pain, deformities, fractures, and a characteristic “ground-glass” appearance on imaging.
Commonly affects long bones, ribs, and skull.

2)Café-au-Lait Spots:
Light-brown macules with irregular, “coast of Maine” borders.
These spots are often unilateral and follow the lines of Blaschko.

3) Endocrine Hyperfunction:
-Precocious Puberty: Early activation of puberty due to autonomous ovarian or testicular hormone production (common in girls with estrogen excess).
-Hyperthyroidism: Caused by autonomous thyroid hormone production.
-Cushing Syndrome: Rare, due to autonomous cortisol production.
-Growth Hormone Excess: Can lead to gigantism or acromegaly.
-Other Endocrinopathies: Such as hyperprolactinemia or hypophosphatemia due to renal phosphate wasting.

166
Q

what are the age-related declines of the visual system

A
  • presbyopia (farsightedness)
  • size of pupil decreases wuth age (focusing becomes less accurate)
    -lens becomes more yellow making it more difficult to see red/green
    -lens loses fluid + becomes less flexible (making it difficult to focus on near objects)
    -dry eyes are quite common
167
Q

what causes presbycusis

A

Age-related hearing loss (presbycusis) is the gradual loss of hearing in both ears. It’s a common problem linked to aging.

causes;
-CNVIII
-degeneration of hair cells in inner ear
-loss of basilar membrane elasticity
-loss of spiral ganglion neurons that transmit auditory signals from cochlea to brain
- Atrophy of the stria vascularis, a structure involved in maintaining the ionic composition of endolymph in the cochlea, which is essential for normal hair cell function.

Environmental and Lifestyle Factors:
- Chronic Noise Exposure:
Lifelong exposure to loud noises damages cochlear hair cells and contributes to early and severe presbycusis.
- Ototoxic Medications:
Certain medications, such as aminoglycosides, loop diuretics, and chemotherapy agents (e.g., cisplatin), can damage the cochlea and exacerbate age-related hearing loss.
- Smoking and Poor Nutrition: accelerate oxidative stress

168
Q

The General Practitioner Assessment of Cognition (GPCOG) is used to assess cognitive function; what is the criteria assessed and what does each score represent

A

GPCOG= goes from 0-10

9-10= normal cognitive function
5-8= possible mild cognitive impairment; further evaluation required
0-4= suggests cognitive impairment= referral required

1) Name + address recall (1 point for each correct word recalled)
2) time orientation (correct day, month and year)= 1 point
3) Clock drawing test; hand placement and number placement
4) Recall; 1 point for each word recalled

169
Q

when we age, so does the peripheral vascular system. Our maximal o2 consumption decreases. What happens to the following:

  • beta-2- adrenergic modulation
  • alpha-1- adrenergic modulation
A

beta-2- adrenergic modulation (vasodilation) DECREASES

alpha-1- adrenergic (vasoconstriction) response NORMAL

170
Q

as we age glandular cells in the large airways decrease, elastic recoil of lungs decreases… why are we less able to deal with respiratory viruses as we age?

A

Decreased levels of IgA = less able to deal with respiratory viruses

171
Q

why do senescent cells promote inflammaging

A

senescent cells stimulate macrophages= inflammaging (low grade inflammation seen in aging patients)

172
Q

explain the effects of ageing on the kidney

A
  • kidney size decreases by 20-30% by 90 years
  • number of glomeruli decreases
  • renal blood vessels become smaller + thicker= reduced blood flow
  • decreased ability to concentrate urine + clear drugs from body (n.b. when treating older patients their kidney is not good at clearance)

this means older patients kidneys:
- decreased GFR

however old kidneys compensate by hyperfunction of remaining nephrons and increase of single nephron filtration rate. Pathology only visible if excessive stress on system

173
Q

why is kidney conservation of sodium reduced in older patients?

A
  • lower plasma renin activity
  • urinary aldosterone excretion
174
Q

what is effects of ageing on the liver

A
  • the liver shrinks (by 25%)
  • accumulation of lipofuscin (brown atrophy) in hepatocytes
  • altered metabolic clearance of drugs!(n.b. when treating older patients their liver is not good at clearance)
175
Q

As we age we lose muscle mass and strength, what is the medical term for this?

A

Sarcopenia is the age-related progressive loss of muscle mass and strength

176
Q

what is epidemiology?

A

Epidemiology studies the distribution of health + disease in population and the factors determining these distributions

177
Q

which vitamin can pregnant women supplement to prevent prematurity

A

Vitamin D

vitamin D deficiency in pregnancy is associated with an increased risk of preterm birth

The daily recommended intake of vitamin D during pregnancy is 400–600 IU/day

178
Q

Intrauterine growth restriction + poor nutrition in fetus increases your risk of what problems in adulthood

A

Intrauterine growth restriction + poor nutrition in fetus; increases risk of hypertension, T2D, cardiovascular events

179
Q

What bacterial infection in childhood increases your risk of stomach cancer

A

Helicobacter pylori

180
Q

IGF2 (insulin-like growth factor II) is a key factor in human growth and is an example of one of the best-characterised epigenetically regulated loci. What mechanism changes IGF2, and using the dutch famine as an example explain how famine alters gene expression

A

Decreased methylation E.g. in dutch famine the IGF2 Differentially Methylated Region (DMR) had decreased methylation in ppl in the womb during famine ,meaning even after generations, descendants of victims have higher insulin resistance rates because the decreased methylation (‘stop signs in gene’ were removed) so IGF2 gene became more active (more gene expression).

Overactive IGF2 (from decreased methylation) leads to insulin resistance, raising likelihood of diabetes.

181
Q

Epigenetics are heritable changes in gene expression not explained by DNA sequence. One of the mechanisms is altered DNA methylation. Explain the mechanism of altered DNA methylation

A

Altered DNA methylation is a key epigenetic mechanism that regulates gene expression without changing the underlying DNA sequence. It involves the addition or removal of methyl groups to or from DNA, particularly at cytosine residues in CpG dinucleotides (regions where a cytosine is followed by a guanine in the DNA sequence).

Methylation:
It’s like adding a “stop sign” to a gene. When DNA is methylated, the gene gets “silenced” or turned down.
When DNA is less methylated, it’s more likely to be active and produce proteins.

  • increased methylation usually switches gene off
  • decreased methylation increases gene expression
182
Q

what is the karyotype of Turner syndrome

A

Turner syndrome karyotype is 45,XO

183
Q

what is the karyotype of Klinefelter syndrome

A

the usual X and Y chromosomes, and one extra X chromosome, for a total of 47 chromosomes (47,XXY)

Klinefelter syndrome karyotype is 47, XXY

184
Q

What is the karyotype of a baby with Edward’s syndrome

A

A baby with Edwards’ syndrome (trisomy 18) has 3 copies of chromosome number 18 instead of 2

Edward’s syndrome karyotype is 47,XY+18

185
Q

What is the karyotype of a baby with Patau syndrome

A

A baby with Patau syndrome (trisomy 13) has 47 chromosomes including three copies of chromosome 13 instead of the usual two

Patau syndrome karyotype is 47,XX+13

186
Q

A baby is identified with transposition of great vessels. What would you give the baby to help it survive in the short term and why?

A

Prostaglandins to keep ductus arteriosus open

187
Q

what is the fossa ovalis

A

The fossa ovalis is a depression in the interatrial septum (the wall between the right and left atria) of the heart. It is the remnant of a structure called the foramen ovale, which is present during fetal development.

188
Q

What drugs open ductus arteriosus, which drugs close ductus arteriosus?

A

Prostaglandins open ductus arteriosus

NSAIDs close ductus arteriosus (N for no=close) (NSAIDs lower prostaglandins)

189
Q

What is Scalded Skin Syndrome (aka Ritter’s disease) caused by?

A

It’s caused by Staphylococcal aureus bacteria. The bacteria releases poison (toxins) that cause the skin to blister and peel.

Med emergency in babies as can spread to systemic circulation + cause meningitis

treat with penicillin or azithromycin

190
Q

How does down syndrome cause conductive hearing loss?

A

DOWN SYNDROME= OTTITIS MEDIA deformity= CONDUCTIVE HEARING LOSS= SPEECH DELAY

191
Q

what cells are actively making antibodies

A

plasma cell

192
Q

define dyspareunia

A

dyspareunia (dis-puh-ROO-nee-uh) is painful intercourse. It is lasting or recurrent genital pain that occurs just before, during or after sex

193
Q

which developmental defect occurs as a result of the failure of the caudal neuropore to fully close.

A

Spina bifida is a developmental defect that occurs as a result of a failure of the caudal neuropore to fully close.

194
Q

The superior vesical artery is a branch of which artery?

A

The superior vesical artery is a branch of the anterior trunk of the internal iliac artery.