Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

USMLE Step 1 > Reproduction > Flashcards

Reproduction Flashcards

You may prefer our related Brainscape-certified flashcards:
USMLE® Step 1 flashcards
1
Q

What is the difference between emission and ejaculation?

A

Emission: sperm travels from the testes to the prostatic urethra to mix with the seminal fluid coming from the ejaculatory duct

  • Sympathetic nervous system
  • Via the hypogastric nerve

Ejaculation: sperm and seminal fluid travel from the prostatic urethra to the outside world

  • Sympathetic nervous system
  • Via the pudendal nerve
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Name the testicular tumour.

  • Yellow and mucinous
  • Schiller-Duval bodies
  • Aggressive
  • Elevated AFP levels
  • Most common testicular tumour in boys <3 years of age
A

Yolk sac (endodermal sinus) tumour

>> Analogous to ovarian yolk sac tumour
>> Schiller-Duval bodies resemble primitive glomeruli

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Name the testicular tumour.

  • Painless
  • Fried-egg appearance
  • Increased placental AFP
  • Most common testicular tumour overall
  • Commonly in 3rd decade and never in infancy
A

Seminoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Name the testicular tumour.

  • Painful
  • Often mixed, rarely pure
  • Elevated hCG and normal AFP levels
A

Embryonal carcinoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Name the testicular tumour.

  • Multiple tissue types
  • Elevated hCG levels
  • Elevated AFP levels in 50%
A

Teratoma

>> Unlike in females, mature teratoma in adult males may be malignant; usually benign in children

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Name the testicular tumour.

  • Disordered syncytiotrophoblastic and cytotrophoblastic elements
  • Elevated hCG levels
  • Hematogenous metastases to lung and brain
A

Choriocarcionma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Name the testicular tumour.

  • Reinke crystals
  • Golden brown in colour
  • Causes gynecomastic in men and precocious puberty in boys
A

Leydig cell tumour

>> Most common of testicular non-germ cell tumour

(Non-germ cell tumour)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Name the testicular tumour.

  • Most common testicular cancer in older men
  • Aggressive
  • Not a primary cancer
A

Testicular lymphoma

(Non-germ cell tumour)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Name the testicular tumour.

  • Estrogen production
  • Gynecomastic in men
  • Associated with Peutz-Jegher’s syndrome and Carney syndrome
A

Sertoli cell tumour

(Non-Germ Cell Tumour)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What are three types of Bowen disease?

A
  1. Bowen disease
  2. Erythroplasia of Queyrat
  3. Bowenoid papulosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Describe and name the penile pathology.

A

Bowen disease

  • Gray, solitary, crusty plaque on the penile shaft and scrotum
  • 10% progresses to invasive squamous cell carcinoma
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Describe and name the penile pathology.

A

Erythroplakia of Queyrat

  • Red, velvety plaques
  • Usually involving the glans
  • Premalignant lesion in situ for penile squamous cell carinoma
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Describe and name the penile pathology.

A

Bowenoid papulosis

  • Multiple papular lesions
  • Do not become invasive
  • Typically in younger individuals
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What are the risk factors for squamous cell carcinoma of the penis? What are the premalignant in-situ lesions for the same cancer?

A

Risk factors for penile SCC

  • HPV infection
  • Lack of circumcision

Premalignant in-situ lesions

  • Bowen disease
  • Erythroplakia of Queyrat
  • Bowenoid papulosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is the mechanism of action of sildenafil?

A

Phosphodiesterase 5 inhibition
>> Increase cGMP
>> Smooth muscle relaxation in corpus cavernosum
>> Vasodilation
>> Erection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What are the indications for sildenafil?

A
  • Erectile dysfunction
  • Raynaud’s phenomenon
  • Primary pulmonary hypertension
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What are the side effects of PDE5 inhibitors (e.g. sildenafil)?

A
  • Headache
  • Flushing
  • Dyspepsia
  • Impaired blue-green colour visio
  • Hypotension
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Name one important clinical contraindication for prescription of sildenafil.

A

Concurrent prescription/intake of nitrates
>> Concomittant intake of nitates and sildenafil can lead to life-threatening hypotension

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What drugs can cause priapism?

A
  • PDE5-inhibitors (e.g. sildenafil)
  • Anti-coagulants
  • Anti-depressants
  • Alpha-blockers
  • Cocaine
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Describe and name the penile lesion.

A

Genital warts: Condyloma acuminatum

  • Benign
  • Caused by HPV-6 and HPV-11 mainly
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Describe and name the penile lesion.

A

Balanitis

  • Inflammation of the glans penis
  • 40% due to Candida
  • More common in the uncircumcised and in diabetics
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What are the risk factors for balanitis?

A
  • Uncircumcised
  • Diabetes mellitus
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Which lobes of the prostate are affected in BPH and prostatic adenocarcinoma respectively? Which one is easier to detect via digital rectal examination?

A

BPH (benign prostatic hyperplasia): periurethral (middle and lateral) lobes

Prostatic adenocarcinoma: posterior lobe; easier to detect via DRE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What are the symptoms of BPH?

A
  • Increased urinary frequency (<q2h></q2h>- Urgency
  • Nocturia (>2-3 times per night)
  • Straining to void
  • Intermittent and/or weak urine stream
  • Incomplete voiding
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What is the full name of BPH?

A

Benign prostatic hyperplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What is the management for BPH?

A

Pharmacological treatment
- Non-selective alpha-1 antagonists
>> Doxazosin
>> Terazosin
>> Prazosin
- Selective alpha-1A,1D antagonist: Tamsulosin
- 5a-reductase inhibitor: Finasteride, Dutasteride

Surgical treatment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What are some possible side effects of non-selective alpha-1 antagonists?

A
  • Postural hypotension
  • Dizziness
  • Asthenia
  • Fatigue

>> Tamsulosin, the selective alpha-1A,1D blocker, has no anti-hypertensive effects and thus avoids the postural hypotension seen in the use of other non-selective alpha-1 antagonists.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What are some possible side effects of finasteride (5a-reductase inhibitor)?

A
  • Decreased libido
  • Ejaculatory disorder
  • Erectile dysfunction/impotence
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

What is the treatment for prostatic carcinoma?

A
  • Flutamide (nonsteroidal androgen receptor antagonist)
  • Resection
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

What is Peyronie’s disease?

A

Angulation of the penis due to inflammation and fibrous tissue formation of tunica albuginea

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

What are the different types of prostatitis?

A
  1. Acute bacterial
  2. Chronic bacterial
  3. Chronic abacterial: most common type
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

What are the possible organisms causing bacterial prostatitis?

A

Age <35 years old: Chlamydia and Gonorrhea

Age >35 years old: UTI bugs (KEEPS)

  • Klebsiella
  • E. coli
  • Enterobacter
  • Proteus
  • Pseudomonas
  • Serratia
  • Staphylococcus saprophyticus
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

What are the structures that sperm and seminal fluid pass through during ejaculation?

A

SEVEN UP

  • Seminiferous tubules
  • Epididymis
  • Vas deferens
  • Ejaculatory duct
  • (Nothing)
  • Urethra
  • Penis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

What is the mechanism of action of flutamide?

A

Nonsteroidal competitive inhibitor of androgens at the testosterone receptor
>> For treatment of prostate carcinoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

What is the mechanism of action for the antiandrogenic effects of spironolactone?

A
  • Inhibits steroid binding
  • Inhibits 17a-hydroxylase (and thus sex steroid synthesis)
  • Inhibits 17,20-desmolase (and thus steroid synthesis)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

What is the mechanism of action for the antiandrogenic effects of ketoconazole?

A

Inhibits 17,20-desmolase and thus inhibits steroid synthesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

What are the indications for testosterone (or methyltestosterone) replacement?

A
  • Hypogonadism
  • Promote development of secondary sexual characteristics
  • ER+ breast cancer
  • Stimulate anabolism for recovery in burns or other injuries
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

What are the side effects of testosterone replacement?

A
  • Females: Masculinization
    Males: decreased intratesticular testosterone production >> gonadal atrophy
  • Premature epiphyseal plate closure
  • Increased LDL, decreased HDL – poor lipid profile
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

What are the therapeutic actions of oral contraceptive pills (synthetic progestins + estrogen)?

A
  • Suppresses ovulation: birth control
  • Thickening of cervical mucus: prevent ascending infection and sperm
  • Inhibits endometrial proliferation: decreases menstrual flow and cramps
  • Regulates menses
  • Decreases ectopic pregnancy (because decreases overall chance for pregnancy)
  • Decreased risk for endometrial and ovarian cancer
  • Decreases acne (by upregulation of SHBG >> sequestrates testosterone)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

What are the side effects of oral contraceptive pills?

A
  • Compliance: noncompliance can lead to pregnancy
  • Hypercoagulability: contraindicated in –
    >> Smokers >35 years of age
    >> Patients with a history of CVA/stroke/clots
    >> Patients with a history of migraine with aura
  • Hypertension
  • Increased triglycerides
  • GI problems/liver problems
  • Mood changes
  • ?Weight gain
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

What are the indications for estrogen replacement/supplementation (usually ethinyl estradiol)?

A
  • Birth control (contraception)
  • Menstrual regulation
  • Hormone replacement therapy for postmenopausal women
  • Hypogonadism/premature ovarian failure
  • Men with androgen-dependent prostate cancer
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

What are the contraindications for estrogen therapy?

A
  • ER+ breast cancer
  • History of DVT/PE/clots
  • Uncontrolled HTN
  • Smoker >35 years of age
  • Migraine with aura
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

What are the indications for progestin therapy?

A
  • Birth control
  • Menstrual cycle control: stabilizes endometrial lining by decreasing growth and increasing vascularization of the endothelium
  • Uterine protection with estrogen HRT (from endometrial cancer)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

What is the average age for menopause?

A

51.4 years
>> Earlier in smokers

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

What is the definition of menopause?

A

Cessation of menstruation associated with decreased estrogen production due to age-linked ovarian follicular atresia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

What is the main source of estrogen in postmenopausal women?

A

Peripheral conversion from androgens in fat cells
>> Postmenopausal women therefore have increased androgen levels, which can lead to hirsutim. Menopause is also associated with grossly increased FSH levels.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

What is the treatment for menopausal hot flashes?

A
  • Estrogen replacement therapy (HRT)
  • SSRIs (selective serotonin reuptake inhibitors) - e.g. sertraline, fluoxetine, citalopram
  • SNRIs (serotonin-norepinephrine reuptake inhibitors) - e.g. venlafaxine
  • Clonidine (alpha-2 receptor antagonist)
  • Gabapentin
  • Herbal medications/vito-estrogens: soy isoflavones, red clover, black cohosh, vitamin E etc.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

What are the indications for hormone replacement therapy?

A
  • Menopausal hot flashes
  • Vaginal atrophy
  • Osteoporosis (bisphosphonates is first-line; estrogen inhibits osteoclastic activity)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

What is vaginismus?

A

Spasm of the pelvic floor muscle that is generally made worse with touch and especially penetration, leading to vaginal pain

>> Variable severity
>> Can affect sexual function

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

What is vestibulitis?

A

Burning sensation at the opening (or the vestibule) of the vagina

  • Most focally at the vestibular glands
  • Primarily at the Bartholin glands (greater vestibular glands) at 5 and 7 o’clock

>> A prime example of allodynia – neurological damage, trauma, deep-seeded bacterial infection etc.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

What are some causes of vaginal pain? List 6.

A
  • Trauma
  • Infection
  • Mucosal spasm
  • Mucosal allodynia or hyperalgesia
    >> Allodynia: pain from stimulus that doesn’t normally provoke pain
    >> Hyperalgesia: pain from stimulus that should normally provoke minimal pain
  • Vaginismus
  • Vestibulitis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

What is the treatment for most cases of vaginal pain?

A

Desensitization

  • Physiotherapy: massage, biotherapy etc.
  • Topical lidocaine
  • Treat infection if present
  • Psychological treatment, esp. if associated with a history of sexual/physical abuse
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

Describe and name this lesion.

A

Sarcoma botryoides

  • Rhabdomyosarcoma originating from the wall of the bladder or the vagina
  • Usually in girls <4 years of age
  • Under microscope: spindle-shaped cells that are desmin positive
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

Where does cervical intraepithelial neoplasia (CIN) most commonly occur? Which types of HPV is it associated with? Which gene products are involved in the development of dysplasia?

A
  • Commonly at the squamocolumnar junction of the transition zone (T-zone) between the ectocervix and the endocervix
  • Associated with HPV-16 and HPV-18 (and also HPV-31)
  • Gene products involved:
    >> E6 – inhibits p53 tumour suppressor gene
    >> E7 – inhibits Rb protein
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

What are the risk factors for cervical carcinoma or CIN?

A
  • Multiple sexual partners
  • Early sexual intercourse
  • HIV infection
  • STDs
  • Smoking: decreases immune system, making you more susceptible to infection
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

What are the most commonly presenting complaint for CIN/cervical carcinoma?

A

ASYMPTOMATIC!

(detected by pap smear – screening for cervical cancer)

  • Some may complain of intermenstrual/abnormal vaginal bleeding (esp. post-coital)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

How does one stage cervical carcinoma?

A
  • *Cervical cancer is clinically staged!**
    • Almost all other gynecological cancers are surgically staged EXCEPT cervical cancer as early cervical cancers do not necessarily need extensive surgery.

  • Aided by pap smear +/- colposcopy +/- LEEP or cone biopsy etc.
  • Spreads locally
  • Lateral spread can cause compression onto the ureters, leading to renal failure
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

What are the common types of cervical carcinoma?

A
  • Squamous cell carcinoma: ~90%
  • Adenocarcinoma: ~10%
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

Where can endometriosis take place?

A
  • Ovary: endometrioma (“chocolate cyst”)
  • Pelvis
    >> Posterior cul-de-sac (Pouch of douglas)
    >> Uterosacral ligament
    >> Uterine surface
    >> Fallopian tube
    >> Posterior broad ligament
    >> Bladder
  • Peritoneum
  • Intestines
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

What are the risk factors of endometrial hyperplasia?

A

States of constant high levels of estrogen

  • Anovulatory cycles
  • Polycystic ovarian syndrome (PCOS)
  • Hormone replacement therapy
  • Granulosa cell tumours (secretes estrogen)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

What are the symptoms of endometrial hyperplasia?

A
  • Menorrhagia or metrorrhagia after age 35
  • Post-menopausal vaginal bleeding

>> Diagnosis by endometrial biopsy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

What is the most common gynecological malignancy in the US?

A

Endometrial carcinoma

Peak incidence: 55-65 years

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

What are the risk factors for endometrial carcinoma?

A
  • Prolonged exposure to unopposed estrogen
  • Nulliparity
  • Late menopause
  • Obesity
  • Hypertension
  • Diabetes
  • *HHONDA**
  • Hypertension
  • Hyperplasia
  • Obesity
  • Nulliparity
  • Diabetes
  • Anovulatory state
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

What are some of the classic locations for leiomyomas (fibroid)? Name 5.

A
  • Subserosal
  • Intramural (most common)
  • Submucosal
  • Cervical
  • Broad ligament
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

What is the most common tumour in females?

A

Leiomyoma (Fibroids)
>> More common in blacks
>> Peak incidence: 20-40 years old
>> Estrogen senstiive: increases in size with pregnancy, and decreases with menopause

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

What are the possible complications of leiomyoma?

A
  • Abnormal uterine bleeding
  • Bulk symptoms: pelvic pressure and discomfort
  • Pain when the fibroid’s centre is necrotic
  • Miscarriage
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
67
Q

What is the treatment for fibroids/leiomyoma?

A

Pharmacological treatment

  • OCPs
  • Continuous GnRH analog: leuprolide

Less invasive surgical treatment

  • Embolization
  • Ablation

Surgical treatment

  • Myomectomy
  • Hysterectomy: definitive treatment
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
68
Q

What are the histological features of leiomyoma?

A

Whorled pattern of smooth muscle bundles with well-demarcated borders

+ for desmin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
69
Q

What are the indications for use of leuprolide?

A
  • Endometriosis
  • Uterine fibroids
  • Precocious puberty
  • Infertility
  • Prostate cancer (use with flutamide)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
70
Q

What are the most common gynecological cancers in the US? List them in order.

A
  1. Endometrial cancer (4th most common cancer overall in the US)
  2. Ovarian cancer (5th most common cancer overall in the US) – poor prognosis
  3. Cervical cancer (most common gynecological cancer in the world – not in developed countries due to pap smear screening)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
71
Q

What is the main indication for clomiphene?

A

Infertility due to anovulation (e.g. clomiphene)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
72
Q

What are the possible side effects for clomiphene?

A
  • Hot flashes
  • Breast discomfort
  • GI discomfort
  • Vision changes
  • Ovarian enlargement: pain and torsion
  • Multiple gestation pregnancy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
73
Q

What is the mechanism of action for clomiphene?

A
  • Partial agonist for estrogen receptors in the hypothalamus
  • Relative decreased effect on negative feedback compared to endogenous estrogen
  • Increased LH and FSH levels
  • Stimulate ovulation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
74
Q

What are the treatment options for polycystic ovarian syndrome (PCOS)?

A
  • Weight loss
  • Treat insulin resistance: Metformin
  • Spironolactone (for hirsuitism – anti-androgenic effects)
  • Progesterone
    >> Protection against endometrial hyperplasia
    >> Negative feedback to hypothalamus to decrease LH
    >> Increases SHBG to decrease free hormones
  • Ovarian induction for infertility:
    >> Clomiphene
    >> Letrozole
    >> Pulsatile leuprolide
    >> Ovarian drilling
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
75
Q

What is the diagnostic criteria for PCOS?

A

Any 2 of the 3 following:

  1. Hyperandrogenism – e.g. hirsutism (NOT VIRILIZATION!)
  2. Anovulation/oligo-ovulation
  3. Polycystic ovaries (string-of-pearls appearance) on USG

Other features

  • Insulin resistance
  • Obesity
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
76
Q

What are the differences between hirsutism and virilization?

A

Hirsutism

  • Male pattern hair growth
  • Acne
  • Increased muscle mass

Virilization

  • Male pattern balding
  • Deepening of the voice (often irreversible)
  • Clitoromegaly
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
77
Q

Name some causes of anovulation.

A

Physiological

  • First few years after menarche
  • Pregnancy
  • Menopause

Pathological
- Endocrine
>> Hyper/hypothyroidism
>> Hyperprolactinemia
>> Cushing’s syndrome
>> Adrenal insufficiency
- HPO axis
>> Premature ovarian failure
>> Stress
>> Anxiety
>> Anorexia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
78
Q

What are some pathologies characterized by psammomma bodies? Name 4.

A

PSaMoMa Bodies

  • Papillary thyroid carcinoma
  • Serous cystadenocarcinoma of the ovary
  • Mesothelioma
  • Meningioma
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
79
Q

Name the ovarian lesion.

  • Endometriosis in the ovary
  • “Chocolate cyst”
A

Endometrioid cyst/endometrioma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
80
Q

Name the ovarian lesion.

  • Often bilateral
  • Due to luteinization and hypertrophy of the theca interna layer of ovary
  • Associated with: molar pregnancy, multiple gestation, ovarian hyperstimulation syndrome and choriocarcinoma
A

Theca-lutein cyst

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
81
Q

Name the ovarian lesion.

  • Psammomma bodies
  • The most common malignant ovarian tumour
A

Serous cystadenocarcinoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
82
Q

Name the ovarian lesion.

  • Multiloculated
  • Large
  • Unilateral
  • Columnar mucus-secreting epithelium that look like intestinal cells
A

Mucinous cystadenoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
83
Q

Name the ovarian lesion.

  • Pseudomyxoma peritonei >> intraperitoneal accummulation of mucinous material
  • Associated with appendiceal tumours
A

Mucinous cystadenocarcinoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
84
Q

Name the ovarian lesion.

  • The most common ovarian tumour
  • 20% bilateral
  • Uniloculated
  • Lined with fallopian-like ciliated epithelium
A

Serous cystadenoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
85
Q

Name the ovarian lesion.

  • 15-20% coexist with endometrial carcinoma
A

Endometrioid tumour/endometrioma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
86
Q

Name the ovarian lesion.

  • Unilateral, solid and encapsulated
  • Looks like transitional epithelium of the bladder
  • Coffee-bean nuclei on H&E stain
A

Brenner tumour

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
87
Q

Name the ovarian lesion.

  • Elevated hCG and LDH levels
  • Equivalent to the male seminoma
  • Sheets of “fried-egg” cells
  • Associated with Turner syndrome
A

Dysgerminoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
88
Q

Name the ovarian lesion.

  • Immature neuroectoderm
  • Malignant in women
A

Immature teratoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
89
Q

Name the ovarian lesion.

  • The most common form of ovarian germ cell tumour
  • Elements from all 3 germ cell layers
  • Benign in women
A

Mature teratoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
90
Q

Name the ovarian lesion.

  • Schiller-Duval bodies
  • Increased AFP levels
  • Malignant
  • Yellow, friable solid mass
  • Most common tumour in male infants (if found in testes instead)
A

Yolk sac (endodermal sinus) tumour

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
91
Q

Name the ovarian lesion.

  • Malignant
  • Elevated hCG levels
  • Tendency of hematogenous spread to lungs
  • Very response to chemotherapy
  • Derived with trophoblastic tissue (cyto- and syncytiotrophoblasts)
A

Choriocarcinoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
92
Q

Name the ovarian lesion.

  • Estrogen-producing
  • Leads to precocious puberty and irregular per vaginal bleeding
  • Call-Exner bodies (similar to primordial follicles)
A

Granulosa-theca cell tumour

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
93
Q

Name the lesion.

  • Meigs syndrome: along with hydrothorax (pleural effusion) and ascites
  • Most common ovarian stromal tumour
  • Bundles of spindle-shaped fibroblasts
A

Fibroma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
94
Q

What is placenta previa?

A

Attachment of the placenta to the lower uterine segment, leading to a risk for antepartum hemorrhage

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
95
Q

What are the 4 types of placenta previa?

A
  1. Complete
  2. Partial
  3. Marginal
  4. Low-lying
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
96
Q

What are the common presenting symptoms of placenta previa?

A

Painless vaginal bleeding of maternal blood

(Alkali denaturation/Apt-Downey test negative)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
97
Q

What are the risk factors for placenta previa?

A
  • Multiple gestation
  • Extremes of maternal age
  • History of placenta previa
  • History of previous C/S, D&C, myomectomy and other uterine surgeries
  • Smoking and alcohol use during pregnancy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
98
Q

What is the management for placenta previa?

A

Cesarean section delivery

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
99
Q

What is vasa previa?

A

Fetal blood vessels covering the cervical os

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
100
Q

What are the presenting symptoms of vasa previa?

A

Painless vaginal bleeding of fetal blood

Can lead to fetal death: fetal hemorrhage can kill within minutes!

(Alkali denaturation/Apt-Downey test positive)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
101
Q

What is placenta accreta?

A

Defective decidual layer leading to inability for the placenta to detach after delivery >> severe post-partum hemorrhage >> life-threatening for mother

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
102
Q

What are the risk factors for placenta accreta?

A
  • Prior C-section
  • Previous placenta previa
  • Advanced maternal age
  • Multiparity
  • History of previous myomectomy or other uterine surgeries (aggressive curettage leading to Asherman syndrome, thermal ablation and uterine artery embolization)
  • Inflammation of the uterus/pelvis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
103
Q

What are the three types of placenta accreta?

A
  1. Placenta accreta: attaches but does not penetrate the myometrium
  2. Placenta increta: penetrates into the myometrium
  3. Placenta percreta: penetrates through the myometrium and has the potential to attach to neighbouring structures such as the rectum and bladder
104
Q

What is the definitive treatment for placenta accreta?

A

Hysterectomy

Adjunctive treatment:

  • Balloon catheter embolization of uterine arteries
  • Methotrexate

>> Leave the placenta in situ as removal of the placenta is assocaitedw tih significant hemorrhagic morbidity.

105
Q

What is placenta abruption/abruptio placentae?

A

Premature separation of placenta from the uterine wall before the delivery of the infant

106
Q

What are the risk factors for placenta abruption?

A

Maternal causes
- Any direct abdominal trauma
>> Motor vehicle accident
>> Spousal abuse
>> Fall
- Hypertension
- Pre-eclampsia
- Cocaine abuse
- Smoking
- Blood-clotting disorders

Obstetrical causes

  • Premature rupture of the membranes
  • Multiple pregnancy
  • Previous abruptio placentae
107
Q

What are the presenting symptoms of placenta abruption?

A
  • Painful abrupt per vaginal bleeding associated with contractions/rapid labour induction
  • Bleeding can be concealed or apparent
  • Usually in the third trimester
  • Life-threatening for both the mother and the fetus

>> Kleihauer-Betke test is useful to determine the degree of maternofetal hemorrhage - looks into the number of fetal RBCs in the mother’s blood

108
Q

What are the possible complications for placental abruption?

A

Maternal

  • Shock and multiple organ failure
  • Severe hemorrhage
  • Disseminated intravascular coagulopathy (DIC)

Fetal

  • Fetal distress
  • Premature birth
  • Fetal death
109
Q

What are the possible causes of polyhydramnios?

A

Maternal causes

  • Maternal diabetes: fetal hyperglycemia and polyuria
  • Maternal cardiac problems
  • Maternal kidney problems

Fetal causes

  • Esophageal/duodenal atresia
  • Anencephaly
  • Genetic causes: Down syndrome, Edwards syndrome
  • Fetal anemia (see obstetric causes)

Obstetric causes

  • TORCH intrauterine infections
  • Rh-isoimmunization (fetal hydrops)
  • Multiple gestation: twin-twin transfusion syndrome
110
Q

What is the definition for polyhydramnios?

A

>1.5-2L of amniotic fluid

111
Q

What is the definition of oligohydramnios?

A

<0.5L of amniotic fluid

112
Q

What are the possible causes of oligohydramnios?

A

Maternal causes

  • Placental insufficiency (IUGR)
  • Drugs: PG inhibitors, ACE inhibitors

Fetal causes

  • Bilateral renal agenesis
  • Posterior urethral valve in males
  • Chromosomal anomalies

Obstetric causes

  • Intrauterine infections
  • Premature rupture of membranes
113
Q

What is the Potter sequence?

A
  • *POTTER** sequence (usually occurs when there is significant oligohydramnios <20 weeks)
  • Pulmonary hypoplasia
  • Oligohydramnios
  • Twisted skin
  • Twisted face
  • Extremities abnormalities
  • Renal agenesis

>> Oligohydramnios
>> Facial and limb deformities
>> Pulmonary hypoplasia

114
Q

What is the difference between chronic and gestational hypertension?

A

Chronic hypertension: BP >140/90mmHg <20 weeks

Gestational hypertension: BP >140/90mmHg >20 weeks

115
Q

What are the antihypertensives safe for pregnancy?

A
  • Alpha-methyldopa
  • Labetalol
  • Hydralazine
  • Nifedipine
116
Q

What are the signs of magnesium toxicity?

A
  • Decreased deep tendon reflexes
  • Decreased pulmonary drive
  • Pulmonary edema
  • Altered mental status
  • Cardiac conduction defects
117
Q

What are some complications of preeclampsia?

A

Maternal complications
- Severe hypertension
>> HELLP syndrome
>> Stroke: intracranial hemorrhage
>> Pulmonary edema/ARDS
>> Cerebral edema: headache, blurred vision, altered mental status and hyperreflexia
>> RUQ pain: liver necrosis and subcapsular bleed
>> Edema of the face and upper extremities
- Renal failure
- Coagulopathy
- Eclampsia

Obstetric complications

  • Placental abruption
  • Uteroplacental insufficiency
118
Q

What are the risk factors for preeclampsia?

A
  • History of preeclampsia
  • First pregnancy/new paternity
  • Advanced maternal age
  • Long interval between pregnancy
  • Multiple gestation
  • History of certain medical conditions
    >> Pre-existing hypertension
    >> Diabetes
    >> Chronic renal disease
    >> Autoimmune disease (e.g. lupus, antiphospholipid syndrome)
119
Q

What is HELLP Syndrome?

A

HELLP Syndrome

  • Hemolysis
  • Elevated Liver Enzymes
  • Low Platelet Count

>> An anemic pregnant lady with easy brusing and petechiae presenting with RUQ pain.

120
Q

What does hypertension in a pregnant woman <20 weeks of gestation suggest?

A
  • Chronic hypertension
  • Molar pregnancy
121
Q

What is the treatment for preeclampsia?

A
  • BP control with antihypertensives
    >> Alpha-methyldopa
    >> Labetalol
    >> Hydralazine
    >> Nifedipine
  • IV magnesium as prophylaxis against seizures
  • Delivery: 34 weeks if severe and 37 weeks if mild

>> Delivery is the cure.
>> For HELLP syndrome or any cases with complications of PET, deliver immediately.

122
Q

When do we screen for gestational diabetes/diabetes in pregnancy?

A

24-28 weeks of gestation

hPL overstimulation leads to increased insulin resistance of the mother >> hPL is not high enough to induce DM early in the pregnancy

123
Q

How does one diagnose diabetes in pregnancy?

A

3-hour 100-g oral glucose tolerance test: Any two of the following four criteria:

  1. Fasting >105mg/dL
  2. 1 hour >190mg/dL
  3. 2 hour >165mg/dL
  4. 3 hour >145mg/dL
124
Q

What are the complications of diabetes in pregnancy?

A

Maternal complications

  • Long-term Type II diabetes after pregnancy
  • Microvascular and macrovascular complications

Fetal complications

  • Macrosomia
  • Stillbirth
  • Neonatal hypoglycemia due to hyperinsulinemia

Obstetric complications

  • Increased risk for the need of Cesarean section
  • Increased risk of birth trauma
125
Q

What are some fetal anomalies commonly associated with pre-existing maternal Type I/II DM?

A
  • Congenital heart defects
  • Neural tube defects
  • Caudal regression syndrome
126
Q

What are the risk factors for ectopic pregnancy?

A
  • History of infertility
  • History of any tubal surgery
  • Previous PID (salpingitis)
  • Endometriosis
  • Previous ruptured appendicitis/any pelvic surgery
127
Q

What is the most common location for an ectopic pregnancy?

A

The ampulla of the fallopian tube

>> Can cause tubal rupture and bleeding
>> Potentially life-threatening

128
Q

What is the typical presentation of an ectopic pregnancy?

A
  • Amenorrhea
  • Postive hCG but lower-than-expected for date
  • Abdominal pain
  • Sometimes per vaginal bleeding

>> Usually in the first trimester at 6-7 weeks of gestation

129
Q

What is the treatment for ectopic pregnancy?

A
  • Methotrexate
  • Laparoscopy
  • D&C to look for villi
130
Q

Name some common causes of recurrent miscarriage. List 6.

A

Maternal factors

  • Poor maternal health
  • Autoimmune/clotting problems
  • Uterine abnormalities
  • Low progesterone

Fetal factors

  • Chromosomal abnormalities
  • Infections
131
Q

Name 6 Category X drugs.

A
  • Methotrexate: neural tube defects, spontanous abortions
  • Statins: CNS and limb anomalies
  • Warfarin: facial/limb/CNS anomalies, spontaneous abortions
  • Isotretinoin: spontaneous abortions, birth defects
  • Diethylstilbestrol: clear cell carcinoma of the vagina
  • Thalidomide: phocomelia
132
Q

What are the categories of OB-safe medications?

A

Cat. A: established safety in human studies
Cat. B: presumed safety from animal studies
Cat C: no human or animal studies suggesting adverse effect – uncertain safety
Cat. D: known adverse effect but benefit outweighs risk in certain occassionas
Cat. X: contraindicated; risk clearly outweighs benefit

133
Q

What are some drugs used for tocolysis?

A

TRINMmmmm down the muscle contractions.

  • Terbutaline
  • Ritodrine
  • Indomethacin
  • Nifedipine
  • Magnesium sulfate
134
Q

What are some drugs used for labour induction/promotion?

A
  • PGE2 analogue: dinoprostone
  • PGE1 analogue: misoprostal
  • Oxytocin (syntocinon)
135
Q

What are the clinical features of Fragile X syndrome?

A
  • Intellectual disability
  • Post-pubertal macro-orchidism
  • Long face with large jaw
  • Large everted ears
  • Autism
  • Mitral valve prolapse
136
Q

What are the top 3 causes for intellectual disability in the U.S.?

A
  1. Fetal alcohol syndrome
  2. Down syndrome
  3. Fragile X syndrome
137
Q

What is the genetic pathophysiology of Fragile X syndrome?

A

X-linked trinucleotide repeat (CGG)n disorder affecting the methylation and expression of the FMR1 gene, and thus leading to defective FMRP, which is a cytoplasmic protein found the in the brain and testes

138
Q

What are the Cs of Huntington’s disease?

A
  • Chorea
  • Cognitive decline
  • Caudate atrophy
  • CAG repeats
  • Chromosome Cuatro (chromosome 4)
  • Cuarenta (presents at 40 years)
  • Decreased acetylcholine and GABA levels
139
Q

Which genes are involved in MEN-1, MEN-2A and MEN-2B?

A

MEN-1 = MEN-1 gene

MEN-2A = RET gene

MEN-2B = RET gene

140
Q

What tumours are associated with MEN-1 syndrome?

A

The 3 Ps

  • Pituitary adenomas
  • Parathyroid adenomas
  • Pancreatic tumours
141
Q

What tumours are associated with the MEN-2A syndrome?

A

MPP

  • Medullary thyroid carcinoma
  • Parathyroid adenoma
  • Phaeochromocytoma
142
Q

What tumours are associated with the MEN-2B syndrome?

A

MMP

  • Medullary thyroid carcinoma
  • Mucosal tumours
  • Phaeochromocytoma
143
Q

What is the mode of inheritance for MEN (multiple endocrine neoplasia) syndromes?

A

Autosomal dominant

144
Q

Which gene is affected in Marfan syndrome?

A

Fibrillin-1 gene

145
Q

What are some clinical features of Marfan syndrome?

A

Skeleton and Skin

  • Tall stature
  • Thin and long extremities
  • Hypermobility of joints
  • Pectus excavatum
  • Arachnodactyly

Heart

  • Mitral valve prolapse
  • Cystic medial necrosis of the aorta: aortic regurgitation, aortic aneurym, aortic dissection

Eye
- Lens subluxation

146
Q

What is the mode of inheritance of Marfan syndrome?

A

Autosomal dominant

147
Q

What are some clinical features of neurofibromatosis type 1?

A

CAFE SPOT

  • Cafe au lait spots
  • Axillary freckling
  • Fibromatosus
  • Eye: Lisch nodules
  • Skeletal deformities: leg bowing, scoliosis
  • Positive family history
  • Optic Tumour (Glioma)
148
Q

What are some clinical features of tuberous sclerosis?

A

HAMARTOMAS

  • Harmatomas (cortical and retinal)
  • Adenoma sebaceum
  • Mitral regurgitation
  • Ash-leaf spots
  • Rhabdomyoma (cardiac)
  • Tuberous sclerosis
  • Autosomal dominant
  • Mental retardation
  • Angiomyolipoma of the kidney, Astrocytoma
  • Seizures
  • Shagreen patches

Cutaneous

  • Adenoma sebaceum
  • Ash-leaf spots
  • Shagreen patches

Associated tumours

  • Cortical and retinal hamartomas
  • Cardiac rhabdomyoma
  • Renal angiomyolipoma
  • Astrocytoma

Neurological

  • Mental retardation
  • Seizures
149
Q

What is the mode of inheritance of neurofibromatosus type 1?

A

Autosomal dominant

150
Q

What is the mode of inheritance of neurofibromatosis type II?

A

Autosomal dominant

151
Q

What is the mode of inheritance of tuberous sclerosis?

A

Autosomal dominant

  • Variable presentation
  • Incomplete penetrance
152
Q

What is the gene associated with von Hippel-Lindau syndrome?

A

VHL gene in chromosome 3

153
Q

What are the tumours associated with von Hippel-Lindau syndrome?

A
  • Hemangioblastomas
    >> Retina
    >> Cerebellum
    >> Medulla
  • Bilateral renal cell carcinoma
  • Phaeochromocytoma
154
Q

Name four trinucleotide repeat disorders.

A
  1. Fragile X syndrome (CGG)
  2. Huntington disease (CAG)
  3. Myotonic dystrophy
  4. Friedreich’s ataxia
155
Q

What is the underlying genetic cause of cystic fibrosis?

A

Autosomal recessive inheritance of a defect in the CFTR gene on chromosome 7, commonly due to a deletion of Phe508.

>> The most common lethal genetic disease in Caucasian population
>> CFTR (cystic fibrosis transmembrane regulator) encodes for an ATP-gated Cl channel that secretes Cl into the lungs, GI tract and pancreatic ducts, and reabsorbs Cl in the sweat glands

156
Q

What is the pathophysiology of cystic fibrosis?

A
  • CFTR gene mutation on chromosome 7
  • Decreased Cl- secretion into airways, pancreatic ducts and GI tract >> decreased Na+ and thus H2O secretion >> thick mucus production, esp. in the lungs and pancreatic ducts
  • Decreased Cl- reabsorption into sweat glands >> decreased Na+ reabsorption >> salty sweat (positive sweat test)
157
Q

How do we diagnose cystic fibrosis?

A

Chloride sweat test: Increased Cl- concentration of >60mEq/L in sweat

  • Contraction alkalosis
  • Hypokalemia
    >> ECF H2O and Na+ losses
    >> Concomittant renal K+ and H+ wasting
158
Q

What are the complications of cystic fibrosis?

A

Respiratory

  • Recurrent pulmonary infections, especially Pseudomonas (cystic fibrosis is one of the few indications for fluoroquinolone use in children)
  • Chronic bronchitis: periods of daily productive cough for 3 consecutive months for at least 2 consecutive years
  • Bronchiectasis
  • Nasal polyps

Gastrointestinal

  • Pancreatic insufficiency
  • Meconium ileus in newborns
  • Fat-soluble vitamin (A, D, E, K) deficiency (leading to failure to thrive)
  • Malabsorption
  • Steatorrhea

Genitourinary
- Infertility in males (from absence of vas deferens and sperm)

159
Q

What is the management for cystic fibrosis?

A

Treat complications

  • Antibiotics (fluoroquinolones!) for pulmonary infections
  • Pancreatic enzyme supplements for pancreatic insufficiency
  • Fat-soluble vitamin supplements for malabsorption, steatorrhea and deficiency

Treat underlying pathophysiology

  • N-acetylcysteine to loosen mucus plugs
  • Dornase alta (DNAase) to clear leukocytic debris
160
Q

Which enzyme is defective in Fabry disease?

A

a-galactosidase A

Accummulated substrate: ceramide trihexoside

161
Q

Which enzyme is deficiency in Gaucher’s disease?

A

Glucocerebrosidase

Accummulated substrate: glucocerebroside

162
Q

Which enzyme is defective in Niemann-Pick disease?

A

Sphingomyelinase

Accummulated substrate: sphingomyelin

163
Q

Which enzyme is defective in Tay-Sachs disease?

A

Hexosaminidase A

Accummulated substrate: GM2 ganglioside

164
Q

Which enzyme is defective in Krabbe disease?

A

Galactocerebrosidase

Accummulated substrate: galactocerebroside, psychosine

165
Q

Which enzyme is defective in metachromatic leukodystrophy?

A

Arylsulfatase A

Accummulated substrate: cerebroside sulfate

166
Q

What are the presenting signs and symptoms of Fabry disease?

A
  • Pain
    >> Peripheral neuropathy of hands and feet
    >> Ischemia (lipid accummulation in the vessels of the GI tract)
  • Renal failure
  • Cardiomyopathy
  • Hypertension
  • Angiokeratomas: painless papules found in lower abdomen, buttocks and groin
167
Q

What is the mode of inheritance of Fabry disease?

A

X-linked recessive

168
Q

What disease is the most common lysosomal storage disorder?

A

Gaucher disease

169
Q

What is the mode of inheritance of Gaucher disease?

A

Autosomal recessive

170
Q

What are the presenting signs and symptoms of Gaucher disease?

A
  • Hepatosplenomegaly
  • Thrombocytopenia
  • Anemia
  • Fatigue
  • Painful bony lesions
171
Q

What is the characteristic histological finding for Gaucher disease?

A

Gaucher cells
>> Lipid-laden macrophages
>> blue-staining fibrils that resemble crumped tissue paper

172
Q

What is the mode of inheritance of Niemann-Pick disease?

A

Autosomal recessive

173
Q

What are the presenting features of Niemann-Pick disease?

A
  • Accummulation of sphingomyelin particularly in the cerebellum
    >> Ataxia
    >> Dysarthria
    >> Dysphagia
    >> Gradual worsening of intellectual functioning
  • Hepatosplenomegaly
  • Thrombocytopenia
  • Cherry red spot on macula
174
Q

What is the characteristic histologic feature of Niemann-Pick disease?

A

Foam cells

>> Lipid-laden macrophages
>> Numerous lipid-containing vacuoles in the cytoplasm

175
Q

What is the mode of inheritance of Tay-Sachs disease?

A

Autosomal recessive

176
Q

What are the presenting signs and symptoms of Tay-Sachs disease?

A

Infantile type: worsening mental and physical activities at around 6 months of age, and death by age 4 years

  • Progressive neurodegeneration
  • Cherry red spot on macula
  • No hepatosplenomegaly (VS. Niemann-Pick disease)
177
Q

What is the characteristic histologic feature of Tay-Sachs disease?

A

Lysosomes with onion skin

178
Q

What is the mode of inheritance of Krabbe disease?

A

Autosomal recessive

179
Q

What are the presenting signs and symtpoms of Krabbe disease?

A

Krabbe disease affects myelin sheaths

  • Peripheral neuropathy
  • Seizures
  • Optic atrophy
  • Weakness
  • Developmental delay

Natural course of disease:
>> Symptoms begin at 3-6 months
>> Death usually by 2 years of age

180
Q

What is the mode of inheritance of metachromatic leukodystrophy?

A

Autosomal recessive

181
Q

What are the presenting signs and symptoms of metachromatic leukodystrophy?

A

Affects myelin sheath (like Krabbe disease)

  • Muscle wasting
  • Weakness
  • Ataxia
  • Dementia
  • Progressive vision loss

Clinical course
>> Onset usually at or beyond 1 year of age
>> In Krabbe disease, onset is usually at 3-6 months of age, and death usually occurs within 2 years of life.

182
Q

What is the characteristic histological feature of Krabbe disease?

A

Globoid cells
>> Large, multinucleated, PAS (+) epithelioid cells with abundant cytoplasm and eccentric pale nuclei
>> Crystalline needle-like inclusions corresponding to globoid material can be seen under the electron microscope

183
Q

What is the mode of inheritance of Hurler syndrome?

A

Autosomal recessive

184
Q

Which enzyme is deficient in Hunter syndrome?

A

Iduronate sulfatase

185
Q

Which enzyme is deficient in Hurler syndrome?

A

a-L-iduronidase

186
Q

What are the presenting signs and symptoms of Hurler syndrome?

A
  • Short stature
  • Coarse facial features
    >> “Gargoylism”
  • Intellectual disability
  • Developmental delay
  • Airway obstruction
  • Hepatosplenomegaly
  • Corneal clouding

>> Onset at ~6 months of age

187
Q

What is the mode of inheritance of Hunter syndrome?

A

X-linked Recessive

188
Q

What are the presenting signs and symptoms of Hunter syndrome?

A
  • Mild form of Hurler syndrome
    >> Short stature and coarse facial features: gargoylism
    >> Intellectual disability
    >> Developmental delay
    >> Airway obstruction
    >> Hepatosplenomegaly
  • Aggressive behaviour
  • NO corneal clouding

>> Onset at 1-2 years of age

189
Q

What is the treatment for Gaucher disease?

A

Recombinant glucocerebrosidase

190
Q

Which genetic disorders are associated with cherry red spots on the macula?

A
  • Tay Sachs Disease
  • Niemann-Pick Disease
191
Q

Name the genetic disorder and its mode of inheritance.

  • Optic Atrophy
  • Myelin Sheath Involvement
  • Galactocerebrosidase Deficiency
A

Krabbe Disease

>> Autosomal recessive

192
Q

Name the genetic disorder and its mode of inheritance.

  • Alpha-Galactosidase deficiency
  • Angiokeratomas
  • Renal failure
A

Fabry Disease

>> X-linked recessive

193
Q

Name the genetic disorder and its mode of inheritance.

  • Alpha-L-iduronidase deficiency
  • Corneal clouding
  • Dwarfism
A

Hurler syndrome

>> Autosomal recessive

194
Q

Name the genetic disease and its mode of inheritance.

  • Glucocerebrosidase Deficiency
  • Macrophages with cytoplasmic fibrils
  • Thrombocytopenia
A

Gaucher disease (most common lysosomal storage disease)

>> Autosomal recessive

195
Q

Name the genetic disorder and its mode of inheritance.

  • Cherry Red Spot on Macula
  • No Hepatosplenomegaly
  • Hexosaminidase A Deficiency
A

Tay-Sachs Disease

>> Autosomal recessive

196
Q

Name the genetic disorder and its mode of inheritance.

  • Iduronate sulfatases deficiency
  • No corneal clouding
  • Aggressive behaviour
A

Hunter syndrome

>> X-linked recessive

197
Q

Name the genetic disease and its mode of inheritance.

  • Arylsulfatase deficiency
  • Similar to Krabbe disease
  • Progressive vision loss and dementia
A

Metachromatic leukodystrophy

>> Autosomal recessive

198
Q

Name the genetic disease and its mode of inheritance.

  • Sphingomyelinase deficiency
  • Foam cells
  • Cherry red spots on macula
A

Niemann-Pick Disease

>> Autosomal recessive

199
Q

Name 11 X-linked recessive disorders.

A

Oblivious Female Will Give Her Boys Her X-Linked Disorders.

  • Ocular albinism
  • Fabry disease
  • Wiskott-Aldrich disease
  • G6PD deficiency
  • Hunter syndrome
  • Bruton agammaglobulinemia
  • Hemophilia A
  • Hemophilia B
  • Lesch-Nyhan syndrome
  • Duchenne muscular dystrophy
  • Becker muscular dystrophy
200
Q

Name some autosomal dominant diseases.

A
  • Autosomal dominant polycystic kidney disease
  • Familial adenomatous polyposis
  • Familial hypercholesterolemia
  • von Recklinghausen disease (neurofibromatosis type I)
  • von Hippel Lindau disease (hemangioblastomas, B/L RCC, phaeochromocytoma)
  • Hereditary spherocytosis
  • Huntington disease
  • Marfan syndrome
201
Q

Name some autosomal recessive diseases.

A
  • Autosomal recessive (infantile) polycystic kidney disease (ARPKD)
  • General albinism
  • Cystic fibrosis
  • Sickle cell disease
  • Thalassemias
  • Glycogen storage diseases
  • Mucopolysaccharidoses
  • Sphingolipidoses
  • Phenylketonuria
  • Hemochromatosis
202
Q

What is the most common causative organism in acute mastitis? What is the most important risk factor for acute mastitis?

A
  • Staphylococcus aureus
  • Breastfeeding: bacterial infection through cracks in the nipple
203
Q

What is the management for acute mastitis?

A
  • Dicloxacillin
  • Continue breastfeeding
  • If a breast abscess is suspected or present: incision and drainage (fluctuant mass)
204
Q

What are some causes for gynecomastia?

A

Physiological/Transient

  • Infants
  • Puberty
  • Elderly

Pathological

  • Testicular tumours
  • Liver cirrhosis
  • Klinefelter syndrome

Drug-induced: STACKED

  • Spironolactone
  • THC (marijuana)
  • Alcohol (esp. chronic use)
  • Cimetidine
  • Ketoconazole
  • Estrogens
  • Digoxin

OR Some Dope Drugs Easily Create Awkward Hairy DD Knockers.

  • Spironolactone
  • Dope: marijuana
  • Digoxin
  • Estrogens
  • Cimetidine
  • Alcohol (esp. chronic use)
  • Heroin
  • Dopamine D2 antagonists
  • Ketoconazole
205
Q

Name 3 benign breast tumours.

A
  1. Fibroadenoma (most common breast tumour <35 years, small)
  2. Intraductal papilloma (bloody nipple discharge)
  3. Phyllodes tumour (~60 years, large, leaf-like projections)
206
Q

Name the breast lesion.

  • Hyperplasia of the breast stroma
  • Non-proliferative benign breast changes
A

Fibrosis

207
Q

Name the breast lesion.

  • Blue dome
  • Non-proliferative benign breast changes
A

Cystic changes

208
Q

Name the breast lesion.

  • Increased glandular tissue
  • Intralobular fibrosis
  • Proliferative benign breast changes
A

Sclerosing adenosis

209
Q

Name the breast lesion.

  • Increased epithelial layers
  • Proliferative benign breast changes
A

Epithelial hyperplasia

210
Q

Name the breast lesion.

  • Looks similar to fat necrosis
  • Scar with irregular shape
  • No history of breast surgery or trauma
  • Can look like cancer
A

Complex sclerosing lesion/radial scar

211
Q

Name the breast lesion.

  • Small, mobile, firm mass with sharp edges
  • Most common breast tumour in women <35 years of age
  • Increased size and tenderness with increased estrogen
  • NOT a precursor lesion for breast cancer
A

Fibroadenoma

212
Q

Name the breast lesion.

  • Associated with serous or bloody nipple discharge
  • Benign breast tumour
  • Located typically beneath the areola
  • Grows in lactiferous ducts
  • Slight increase in risk for carcinoma
A

Intraductal papilloma

213
Q

Name the breast lesion.

  • Most common in the 6th decade
  • Leaf-like projections
  • Large bulky mass of connective tissue and cysts
  • Some may become malignant
A

Phyllodes tumour

214
Q

What is the most common cancer in women in the U.S?

A

Breast cancer

215
Q

What is the most common cause of cancer death in women in the U.S?

A

Lung cancer

Breast cancer is the second most common cause of cancer death in women in the U.S.

216
Q

What is the most common location of breast cancer?

A

Upper outer quadrant

217
Q

What is the most common cause of breast lumps in women aged 25-50 years in the U.S?

A

Fibrocystic changes of the breast/nonproliferative benign breast changes

218
Q

What is the most important prognostic factor in breast cancer?

A

Axillary lymph node involvement at the time of diagnosis

219
Q

What are the risk factors for breast cancer?

A
  • Increased estrogen exposure
    >> Early menarche
    >> Late menopause
    >> Nulliparity/advanced age at first life birth/few pregnancies
    >> Less time in breastfeeding
  • Obesity: increased peripheral conversion of androgen to estrogen in adipose tissue
  • Family history of breast cancer
  • BRCA-1 and BRCA-2 mutations
  • Family or personal history of HNPCC
220
Q

What are the receptors commonly found in breast cancer?

A
  • Estrogen receptors
  • Progesterone receptors
  • HER-2/ neu (c-erbB2) receptors

>> Beneficial for treatment with target chemotherapy

221
Q

What are the different types of DCIS (ductal carcinoma in situ)?

A
  • Comedocarcinoma (characterized by caseous necrosis)
  • Solid
  • Cribiform
  • Papillary
  • Micropapillary
222
Q

What is the characteristic histological feature of lobular carcinoma in situ of the breast (LCIS)?

A

Signet ring cell

>> Increased mucinous material in the cytoplasm pushes the nucleus out into the periphery of the cell

223
Q

What are the features of LCIS of the breast?

A
  • Signet ring cells
  • Almost always ER +ve and PR +ve
  • Not exactly a precursor lesion: increased the risk for lobular carcinoma development of BOTH breasts and all areas of the breast
  • Treat with masectomy (unilateral VS. bilateral) or tamoxifen (ER target therapy)
224
Q

What pathologies are commonly characterized by the presence of signet ring cells under microscopy?

A
  • Lobular carcinoma in situ (LCIS)/invasive lobular carcinoma of the breast
  • Krukenburg tumours of the ovaries from gastric adenocarcinoma metastasis
  • Gastric adenocarcinoma itself
225
Q

What is the most common form of invasive breast carcinoma?

A

Invasive ductal carcinoma

226
Q

What are the features of invasive ductal carcinoma?

A
  • Preceded by ductal carcinoma in situ (DCIS)
  • “Rock-hard” fixed and immobile mass with sharp edges
  • Classic “stellate” infiltration
  • Most invasive
  • Worst prognosis
  • Most common
227
Q

What are the features of invasive lobular carcinoma of the breast?

A
  • Often multiple and bilateral
  • Due to inactivation of e-cadherin gene
  • ER +ve
  • PR +ve
  • Signet ring cells on microscopy
228
Q

List the types of invasive carcinoma of the breast.

A
  • Invasive ductal carcinoma
  • Invasive lobular carcinoma
  • Cribiform/tubular carcinoma
  • Papillary carcinoma
  • Medullary carcinoma
  • Mucinous carcinoma
  • Metaplastic carcinoma
229
Q

What are the features of inflammatory carcinoma of the breast?

A
  • A type of presentation, and not a subtype, of invasive breast carcinoma
  • Caused by invasion of dermal lymphatics, leading to visible inflammatory changes
    >> Peau d’orage
    >> Nipple retraction (new! – can be congenital in some ladies)
    >> Skin dimpling of the breast
230
Q

What is the characteristic histologic feature of invasive lobular carcinoma?

A
  • Signet ring cells
  • Indian file: orderly row of cells
231
Q

What is Paget’s disease of the breast?

A
  • Eczematous patches on the nipple
  • Suggests underlying DCIS (ductal carcinoma in situ of the breast)
  • On microscopy: Paget cells = large cells in the epidermis with clear halo
232
Q

Name three selective estrogen receptor modulators (SERMs) and their clinical indications.

A
  1. Clomiphene
    >> For PCOS-induced infertility and anovulation
    >> Antagonist at the estrogen receptors of the hypothalamus
  2. Tamoxifen
    >> Treatment and prevention of ER +ve breast carcinoma
    >> Antagonist at the breasts
    >> Agonist at the uterus and bone
  3. Raloxifene
    >> Treatment of osteoporosis
    >> Antagonist at the uterus and breast
    >> Agonist at the bone
233
Q

What are the possible side effects of tamoxifen?

A
  • Increased risk for endometrial carcinoma (agonist at the uterus)
  • Increased risk for thromboembolic events
234
Q

What are the possible side effects of raloxifene?

A
  • Increased risk for thromboembolic events
  • No increased risk for endometrial carcinoma
235
Q

What is the mechanism of action of anastrozole? What is another drug in the same class? What is the clinical indication for these drugs?

A
  • Aromatase inhibitor
  • Exemestane
  • Treatment of breast cancer in postmenopausal women
236
Q

Name two aromatase inhibitors.
What are their clinical indications and what are some possible side effects?

A

Anastrozole and exemestane

  • Indication: treatment for breast cancer in postmenopausal women
  • Side effects: osteoporosis and thus increased risk for pathological fractures
237
Q

What is the most common breast tumour in women under 25 years of age in the U.S?

A

Fibroadenoma

238
Q

What is the most common breast mass in postmenopausal women?

A

Invasive ductal carcinoma

239
Q

What is the most common breast mass in premenopausal women?

A

Fibrocystic changes of the breast

240
Q

Name the testicular tumour.

Histologically may have an alveolar or tubular appearance, sometimes with papillary convolutions

A

Embryonal carcinoma

241
Q

Name the testicular tumour.

Multiple tissue types

A

Teratoma

242
Q

Name the testicular tumour.

Histologic endodermal sinus structures (Schiller-Duval Bodies)

A

Yolk sac tumour

243
Q

Name the testicular tumour.

25% have cytoplasmic rod-shaped crystalloids of Reinke

A

Leydig cell tumour

244
Q

Name the testicular tumour.

Androgen-producing and associated with precocious puberty

A

Leydig cell tumour

Sertoli cell tumour

245
Q

Name the testicular tumour.

Composed of cytotrophoblasts and syncytiotrophoblasts

A

Choriocarcinoma

246
Q

Name the testicular tumour.

May present initially with gynecomastia

A

Sertoli cell tumour (associated with Peutz-Jeghers and Carney syndrome)

Leydig cell tumour (Reinke crystals)

247
Q

Name the testicular tumour.

Elevated AFP

A

Yolk sac tumour

248
Q

Name the testicular tumour.

Elevated beta-hCG

A

Choriocarcinoma

Embryonal carcinoma

249
Q

Name the testicular tumour.

Histologic appearance similar to koilocytes (cytoplasmic clearing)

A

Seminoma

250
Q

Name the ovarian tumour.

  • Estrogen-secreting
  • Precocious puberty
A

Granulosa-theca cell tumour

251
Q

Name the ovarian tumour.

  • Produces AFP
A

Yolk sac (endodermal sinus) tumour

252
Q

Name the ovarian tumour.

Psammoma bodies

A

Serous cystadenocarcinoma of the ovary

253
Q

Name the ovarian tumour.

Intraperitoneal accumulation of mucinous material (pseudomyxoma peritonei)

A

Mucinous cystadenocarcinoma of the ovary

254
Q

Name the ovarian tumour.

  • Testosterone-secreting
  • Virilization
A

Sertoli-Leydig cell tumour

255
Q

Name the ovarian tumour.

Lined with fallopian tube-like epithelium

A

Serous cystadenoma

256
Q

Name the ovarian tumour.

  • Ovarian tumour
  • Ascites
  • Hydrothorax
A

Meigs syndrome with ovarian fibroma

257
Q

Name the ovarian tumour.

Resembles bladder epithelium

A

Brenner tumour

USMLE Step 1 (14 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions