Pathology and Infection Flashcards
Name 3 early pregnancy disorders
- Spontaneous abortion
- Ectopic pregnancy
- Gestational trophoblastic disease
Name 3 late pregnancy disorders
- Disorders of placentation
- Pre-eclampsia / Eclampsia
- Amniotic fluid embolism
What percentage of recognised pregnancies terminate in spontaneous abortion?
10-15% of recognised pregnancies terminate in spontaneous abortion
What are the foetal causes of spontaneous abortion?
- Genetic abnormalities e.g. Aneuploidy, Trisomy 18, Trisomy 16
- Infection (TORCH)
- Defective implantation inadequate to support foetal development
What are the maternal causes of spontaneous abortion?
- Inflammatory disease
- Uterine abnormalities
What is it called when there is implantation of the foetus in any site other than the normal uterine location?
Ectopic pregnancy
How often do ectopic pregnancies occur?
Occurs 1 in 150 pregnancies
What is the most common site of ectopic pregnancy?
Fallopian tube
Name a predisposing condition to ectopic pregnancy
Pelvic inflammatory disease
What are the following clinical features a sign of:
- Severe abdominal pain at approx 6 weeks post LMP
- Tubal rupture →pelvic haemorrhage→Acute Abdomen
- Medical Emergency –Cardiovascular shock
- Diagnosed: Serum ßhCG
Ectopic pregnancy.
Side note: These pregnancies are always non-viable.
What disease does this describe: “Spectrum of tumours and tumour-like conditions characterised by the proliferation of pregnancy-associated trophoblastic tissue.”
Gestational trophoblastic disease
Name the 3 types of molar pregnancy
- Complete hydatidiform mole
- Partial hydatidiform mole
- Choriocarcinoma
What do the following factors put a pregnant patient at risk of?
- Age: >40 years; <20 years
- Previous gestational trophoblastic disease
- Diet deficient in Vitamin A
- Blood group A woman and group O man
Molar pregnancy
How may a clinician detect the early development of persistent trophoblastic disease?
It is possible by monitoring the circulating levels of hCG to determine the early development of persistent trophoblastic disease
What are the following clinical presentations associated with during pregnancy:
- Uterus large for dates
- Hyperemesis
- 1st trimester vaginal bleeding
- Symptoms of thyrotoxicosis
- Theca lutein cysts
Complete hydatidiform mole
Complete moles cause markedly elevated levels of _____?
Complete moles cause markedly elevated levels of ßhCG. This information is used in diagnosis.
Additionally, ALL the villi of the placenta have oedema. No foetus is seen. The karyotype is also 46 XX/ 46 XY
What percentage of complete hydatidiform moles progress to choriocarcinoma?
2% of complete moles progress to choriocarcinoma
What are the following clinical features associated with during pregnancy:
- Elevated levels of ßhCG
- Normal villi + some oedematous villi
- Minimal trophoblastic proliferation
- May contain foetal parts
- Karyotype: Triploid
- V. rare progression to choriocarcinoma
Partial hydatidiform mole
What is the malignant epithelial neoplasm of trophoblastic cells that can develop from hydatidiform moles known as?
Choriocarcinoma.
50% of cases arise from hydatidiform moles.
22% from normal pregnancies.
What are the treatments of choriocarcinoma?
- Surgery
- Chemotherapy
Name two placental disorders of implantation
- Placenta Praevia
2. Placenta creta
What is the implantation of the placenta over the internal cervical os known as?
Placenta praevia
What are 2 risk factors of placenta praevia?
- Prior C-section
- Pregnancy termination
- Smoking
Name 2 complications of placenta praevia
- Difficulty in delivery
2. Postpartum haemorrhage
Name the disorder that this definition describes: “A rare disorder in which the chorionic villi are immediately adjacent to the myometrium to a varying degree.”
Placenta Accreta
Placenta accreta is associated with a deficiency of _______
Placenta accreta is associated with a deficiency of decidua
What is the main risk in placenta accreta spectrum disorders?
Antenatal and postnatal bleeding
What does increta imply?
Increta implies a moderate degree of myometrial penetration
What does percreta imply?
Percreta implies total penetration by chorionic villi
What is placental abruption defined as?
Premature separation of the placenta
Name a complication of placental abruption
Antepartum haemorrhage
What is the clinical presentation of placental abruption?
Bleeding with abdominal pain - hard uterus on palpation
What is a complication of twin pregnancies?
Twin to twin transfusion
What do twin pregnancies put the mother at increased risk of?
- Gestational diabetes
- Premature delivery
What 3 symptoms characterise pre-eclampsia toxaemia (PET)?
Hypertension
Proteinuria
Oedema
What % of people does toxaemia of pregnancy occur in?
6%
It usually occurs in the last trimester
Is convulsions associated with pre-eclampsia toxaemia or eclampsia?
Eclampsia
What is the treatment for established PET or Eclampsia?
Induction and delivery
What are the complications of PET?
HELLP Syndrome
- Haemolysis
- Elevated Liver enzymes
- Low Platelets
What does HELLP syndrome describe?
- Haemolysis
- Elevated Liver enzymes
- Low Platelets
What condition is characterised by the following:
- Severe Shortness of Breath
- Cyanosis
- Hypotensive shock followed by seizures & coma
Amniotic fluid embolism
Name one thing found in the maternal pulmonary circulation when there is amniotic fluid embolism
- Foetal squamous cells
- Mucin
What is the leading cause of direct maternal death?
Thromboembolic disease
What is the most common malignancy exacerbated in pregnancy?
Breast cancer
What is the incidence of maternal death?
9.2 in 100,000
What does the ‘perinatal period’ describe?
The period occurring around the time of birth
How is preterm birth defined?
Preterm birth refers to the birth of a baby less than 37 weeks gestation
List 4 risk factors for prematurity
- Pre-Eclampsia (PET)
- Hypertension
- Alcohol
- Infection
Name one neurological complication of prematurity
Developmental disability
Name one cardiovascular complication of prematurity
Patent ductus arteriosus
What is the leading cause of morbidity & mortality in premature infants?
Respiratory distress syndrome (RDS)
What are the risk factors for respiratory distress syndrome?
Prematurity, Maternal diabetes, C-section
The pathogenesis of respiratory distress syndrome is linked to a deficiency of ______
The pathogenesis of respiratory distress syndrome is linked to a deficiency of surfactant
What is the biophysical role of surfactant?
relevant for respiratory distress syndrome
To decrease surface tension (i.e. decrease the affinity of alveolar surfaces for one another)
When a newborn starts to breathe, type II pneumocytes release their surfactant stores.
How is respiratory distress syndrome prevented?
Antenatal maternal glucocorticoids
What is a late complication of respiratory distress syndrome that usually occurs in infants that weigh less than 1500g?
Bronchopulmonary dysplasia (BPD). It is thought to result from oxygen toxicity.
Name 2 gastrointestinal/metabolic complications of prematurity
- Hypoglycaemia
- Hypocalcaemia
- Necrotising Enterocolitis
What is the most common acquired gastrointestinal emergency in newborns?
Necrotising Enterocolitis (NEC)
The incidence of necrotising enterocolitis (NEC) is thought to be _______ proportional to the gestational age
The incidence of necrotising enterocolitis (NEC) is thought to be inversely proportional to the gestational age
Name 2 haematological complications of prematurity
- Anaemia of prematurity
- Jaundice
In jaundice, what organ is immature? And what is it deficient in?
Liver immature - deficient in glucuronyl transferase
What pigment is thought to injure the brain by interfering with mitochondrial function in jaundice?
Bilirubin.
When it injured the brain by interfering with mitochondrial function, this is called ‘kernicterus’.
A baby is brought to the clinic and is described to have lost their startle reflex. They have also developed athetoid (slow) movements. They have previously been diagnosed with jaundice. What complication have they developed?
Kernicterus
What is the treatment for jaundice?
Phototherapy.
In a severe case: exchange transfusion
What is a low birth weight infant classified as?
<2500g
What is a cause of ‘small for gestational age’ (SGA) low birth weight?
Intrauterine Growth Restriction (IUGR)
Name one cause of Intrauterine Growth Restriction
Disorders impairing maternal health & nutrition
Name one cause of symmetrical foetal growth restriction
Rubella or Chromosomal abnormalities
What is the most common important birth injury?
Intracranial haemorrhage
Which organ has the highest risk of causing death when there is a congenital abnormality?
Congenital anomalies of the heart have the highest risk of death in infancy accounting for 28% of infant deaths due to congenital abnormality
What does the following definition refer to: “Intrinsic abnormality occurring during the developmental process.”
Malformation
What does the following definition refer to: “Arise later in fetal life and represent an alteration in form or structure resulting from mechanical factors.”
Deformation
What does the following definition refer to: “Results from secondary destruction of or interference with an organ or body region that was previously normal in development.”
Disruption
What does the following definition refer to: “A pattern of cascade anomalies”
Sequence
What does the following definition refer to: “A constellation of congenital abnormalities believed to be pathologically related.”
Syndrome
What are the two main features of Potters’ Sequence?
- Oligohydramnios (caused by Amniotic leak)
2. Foetal compression (Results in Altered faces)
Karyotic abnormalities are present in __ to __% of live infants with congenital abnormalities
Karyotic abnormalities are present in 10 to 15% of live infants with congenital abnormalities
What is the most common cause of congenital abnormalities?
Down Syndrome
What is the professional term for Oedema of the foetus?
Hydrops Fetalis
The hallmark of X disease is the abnormal accumulation of fluid in body cavities. This disease occurs in babies. Name the disease.
Hydrops Fetalis
Name a type of immune hydrops, that is also known as ‘haemolytic disease of the newborn’.
Rhesus Disease
90% of Rhesus are caused by what?
Antibodies against D antigen.
Problem arises with Rh(-) mother & Rh(+) father.
Name one feature of infants who die from hydrops fetalis.
Bile stained organs
What is the treatment of Rhesus disease?
- Exchange transfusions
- Phototherapy
How is Rhesus disease prevented?
The administration of human anti-D immunoglobulin within 72 hours of delivery
What is the most common cause of non immune hydrops?
Fetal cardiac anomalies
Name two things that non immune hydrops results from
- Cardiac Failure
2. Venous obstruction
What microorganisms are transcervical perinatal infections mainly caused by?
Bacteria
What microorganisms are transplacental perinatal infections mainly caused by?
Parasites and Viruses.
How do transplacental perinatal infections access the fetal bloodstream?
Via chorionic villi
Name 4 conditions that are screened in Ireland as part of the national newborn bloodspot screening program
- Cystic fibrosis
- Phenylketonuria
- Classic Galactosaemia
- Congenital Hypothyroidism
Name one criteria for screening
Facilities for diagnosis and treatment available
What is the screening methodology for cystic fibrosis?
Wet chemical method + genetics
What is the screening methodology for amino acid disorders?
MS/MS methodology
What are the 3 main classifications of variants?
Benign
Uncertain Significance
Pathogenic
Name a disease that undergoes variant specific testing
Cystic Fibrosis
Name a disease that undergoes gene specific testing
Phenylketonuria
What disease does this 8 month old girl have?
Characteristics:
- 4/7 Hx vomiting., diarrhoea, reduced oral intake
- Examination: unresponsive, 4cm hepatomegaly, no splenomegaly
- Birth Hx-full term, SVD, BW 3.5 kg, up-to-date vaccination
- 1st child, healthy non consanguineous parents
- Paternal aunt RIP at 4/12-SID and maternal aunt RIP-8/12 SID
MCADD
What is the common MCAD mutation in clinically symptomatic patients?
Homozygous mutation (G985A) in the ACADM gene
What is an outcome of MCADD with national newborn screening?
Avoidance of fasting
What is an outcome of MCADD without national newborn screening?
Metabolic crises
What is a chronic complications of classical Galactosaemia?
Dyspraxia
What enzyme metabolises galactose, which is deficient in classical galactosaemia?
GAL-1-PUT
By what route are TORCH infections usually transmitted?
Via trans-placental route
In perinatal infections, when does the baby acquire the infection?
During labour and delivery
Name 3 congenital infections which the mother acquires BEFORE conception and transmits it to the foetus?
- HIV
- Hepatitis B
- Treponema pallidum
Where are congenital infections established?
Placenta
What modality is used to detect abnormalities in the foetus?
Ultrasound scanning
Laboratory analysis of amniotic fluid is also used
In congenital infections, are asymptomatic or symptomatic infections more likely to have long term sequelae?
Symptomatic infections are more likely to have long term sequelae
What does the acronym ‘TORCH’ stand for?
Toxoplasma gondii Others Rubella Cytomegalovirus (CMV) Herpes simplex virus
Name 4 examples of ‘Other’ TORCH infections
- Parvovirus B19
- Varicella
- Syphilis
- Zika virus
- Treponema pallidum
What issues may congenital infections result in?
- Fetal loss (spontaneous miscarriage)
- Intrauterine growth retardation (IUGR)
- Fetal anomalies
- Long term consequences
What type of infection is toxoplasmosis? (in terms of organism)
Protozoal infection. (Acquired from eating inadequately cooked meat, contaminated foods or contact with infected cat faeces)
What is the classical triad seen at birth in congenital toxoplasmosis? (i.e. 3 clinical presentations)
- Hydrocephalus
- Chorioretinitis
- Intracranial calcification
What are asymptomatic babies with congenital toxoplasmosis likely to develop later in life?
Ocular manifestation
What maternal infection does treponema pallidum result from?
Syphilis.
50% of babies are asymptomatic at birth.
What is the treatment for treponema pallidum?
Penicillin
What is another term that is used to describe Parvovirus B19?
Slapped cheek syndrome
What may Parvovirus B19 infection result in during the first trimester of pregnancy?
Miscarriage
What may Parvovirus B19 infection result in during the 2nd trimester of pregnancy?
Profound anaemia and Hydrops fetalis
With varicella, around when in the pregnancy is maternal infection more common?
Infection is more common around birth, which can cause post-natal infection
Name a foodborne illness/infection that can affect pregnancy
Listeria
Name 2 things that maternal listeria infection is associated with
Sepsis
Preterm birth
Zika virus is a _____ borne infection
Mosquito borne infection
What is the main clinical presentation that Zika virus is associated with?
Microcephaly
What may rubella infection cause if it occurs in the first trimester of pregnancy?
Major fetal defects in heart, eye, brain
What may rubella infection cause if it occurs during week 12-16 of pregnancy?
Deafness
Name 3 symptoms of rubella infection that are apparent at birth, if a baby has been congenitally infected.
- Petechiae “blueberry muffin rash”
- Cataract
- Microcephaly
What is the most common congenital infection?
Cytomegalovirus
Name 3 symptoms of cytomegalovirus that are present at birth
- IUGR
- Petechiae / blueberry muffin rash
- Intracranial calcification
Name 4 ways congenital infection can be prevented
- Antenatal screening: Rubella, HIV, Hep C
- Vaccination
- Antimicrobial and immunoglobulin treatment
- Food safety
When is the rubella vaccination given? (In regards to pregnancy)
BEFORE pregnancy or AFTER delivery
When the baby is not in the body
What is the default delivery method for HIV?
Caesarean section
Name 3 blood borne viruses
- HIV
- Hepatitis B
- Hepatitis C
Does Hepatitis C infection require a vaccine, immunoglobulin, or antiviral during pregnancy or in the neonate?
No
How much does the risk of Hepatitis C transmission increase if co-infected with HIV during pregnancy?
4-5%
Gonorrhoea can cause ophthalmia neonatorum on ___ 1-3 of life:
Gonorrhoea can cause ophthalmia neonatorum on DAY 1-3 of life:
Chlamydia trachomatis can cause ophthalmia neonatorum on ___ 1-3 of life:
Chlamydia trachomatis can cause ophthalmia neonatorum on WEEKS 1-3 of life:
What STI is transmitted vertically during pregnancy?
Herpes Simplex Virus (HSV)
What infection is likely to be present if a baby presents with the following symptoms in the first month of life:
- SEM (Skin, eyes, mouth) lesions
- Sepsis not responding to antibiotic therapy
- Severe sepsis
- Encephalitis e.g. unexplained seizure, hypotonia.
Neonatal herpes
Name 4 causes of maculopapular rash
- Measles
- Rubella
- Parvovirus B19
- Scarlet fever (Streptococcus pyogenes)
Name two ways that measles is transmitted
Airborne and Contact transmission
What is the attack rate of measles?
95%
What are the blue-white specks with surrounding red areola on oral mucous membranes called in measles?
Koplik’s spots
What infection are the following clinical features associated with:
- Incubation period 8-13 days
- High fever, cough, conjunctival inflammation, runny nose
- Koplik’s spots
- Maculopapular rash starts on day 3-4 of illness
Measles
Name 2 complications of measles
- Pneumonia
- Death
(Also: post measles acute encephalitis)
What infection are the following clinical features associated with:
- Incubation period 14-23 days
- Mild fever
- Rash appearing on day 2-3
- Accompanied by lymphadenopathy
- Older patients may have arthralgia
Rubella
Name 2 complications of rubella
- Congenital infection
2. Encephalitis
When are the 2 MMR doses given?
1st dose @ 12 months
2nd dose @ 4-5 years
Why is the MMR vaccine not given during pregnancy?
It is a live attenuated vaccine
Why is the MMR vaccine not given to immunocompromised patients?
It is a live attenuated vaccine
What age is human parvovirus B19 infection most common in?
Children 5-14 years
Name 3 infectious systemic viral infections
Measles
Rubella
Human parvovirus B19
What infection are the following clinical features associated with:
- Incubation period 1-3 weeks
- Mild fever
- Maculopapular rash
- Arthralgia more common in adults
Human parvovirus B19
Name 1 complication of human parvovirus B19
Aplastic crisis
What bacteria causes scarlet fever?
Streptococcus pyogenes
What is used for the laboratory diagnosis of measles, mumps and rubella?
Saliva PCR swab: for viral RNA
What is used for the laboratory diagnosis of parvovirus b19?
Blood sample: test for IgG + IgM antibody +/- parvovirus DNA by PCR
What clinical feature is diagnostic of Herpes 6?
Roseola
What is the most common cause of vesicular rash?
Varicella (Chickenpox)
Name 2 causes of vesicular rashes
- Varicella
2. Herpes simplex virus
How long is a person with chickenpox usually infectious for?
5-7 days
Name 2 complications of Varicella
- Pneumonia
2. Zoster (Shingles)
Which of the following tests is used to determine recent infection: IgM antibody or IgG antibody?
IgM
What infection causes gingivostomatitis?
Herpes simplex virus
What group of viruses cause hand, foot and mouth illness?
Enteroviruses
What distinguishes mumps from other common infectious viral illnesses?
Systemic viral illness with NO RASH
What is the main presenting symptom of mumps?
Swelling of salivary gland
List 2 complications of mumps
- Encephalitis
2. Orchitis
Name 2 bacterial respiratory tract infections in childhood
- Pertussis ‘whooping cough’
2. Epiglottitis
Name 2 viral respiratory tract infections in childhood
- Bronchiolitis
2. Croup
What is the name of the bacterium that causes whooping cough?
Pertussis
List 2 complications of pertussis/whooping cough
- Intracranial haemorrhage
2. Secondary bacterial pneumonia
How can pertussis/whooping cough be prevented?
Vaccination
What childhood condition caused by a bacterial infection are the following clinical features associated with:
- Cold and sore throat
- Pain and difficulty swallowing
- Stridor
- Respiratory emergency
Epiglottitis
What virus is bronchiolitis caused by?
Respiratory syncitial virus (RSV).
Every child will develop 1 or more episodes of RSV.
What viral childhood infection causes a harsh barking cough and noisy breathing?
Note: It is also very common in infants
Croup
What organism causes croup?
Parainfluenza viruses 1, 2 or 3
What term describes the following: A form of immunity that occurs when the vaccination of a significant proportion of a population provides a measure of protection for individuals who have not developed immunity.
Herd immunity.
People that benefit from herd immunity include people not vaccinated and contraindicated people.
Vaccines act as ______ and most stimulate _________ production and through activating ________ effector functions
Vaccines act as antigens and most stimulate protective antibodies production and through activating T cell-mediated effector functions
Are the following characteristics associated with T-cell dependent antigens or T-cell independent antigens?
- Activate T cells
- Response from birth
- Long term immunity
- Booster response
T-cell dependent antigens
Are the following characteristics associated with T-cell dependent antigens or T-cell independent antigens?
- Activated B cells
- Poorly responsive under 2 y/o
- No long term immunity
- No booster response
T cell independent antigen
What type of antigen are T cell dependent antigens? (In terms of protein, fat, polysaccharide etc)
T cell-dependent antigens are protein antigens
What type of antigen are T cell independent antigens? (In terms of protein, fat, polysaccharide etc)
T cell-independent antigens are polysaccharide antigens
How do you overcome the problems of T cell-independent antigens?
Coupling polysaccharide to protein carrier
Name the type of antibody which does the following:
Neutralisation of bacterial exotoxin
Antitoxin
Name the type of antibody which does the following:
Neutralisation of viruses
Neutralising antibodies
Name the type of antibody which does the following:
Initiation of complement-mediated lysis of bacteria
Lysins
Name the type of antibody which does the following:
Initiation of phagocytosis
Opsonins
Name the type of antibody which does the following:
Prevention of bacterial adhesion to mucosal surfaces
Antiadhesins
Name 4 types of antibodies
- Antitoxin
- Neutralising antibodies
- Lysins
- Opsonins
How long does a live attenuated vaccine offer protection for?
Life-long protection with one dose
Name 2 things that may inactivate an ‘inactivated vaccine’
- Heat
2. Acetone
What does the following description refer to:
“Modified bacterial toxins rendered non-toxic but retains ability to stimulate anti-toxin formation”
Toxoids
Name two types of subunit /subcellular fraction vaccines
- Polysaccharide capsule e.g. pneumococcal
2. Fragmented virus or surface antigen e.g. influenza
Name 5 types of vaccines and an example of each
- Live attenuated, e.g. MMR
- Inactivated, killed, e.g. Pertussis
- Toxoids, e.g. Tetanus
- Subunit fraction vaccines, e.g. Influenza
- Recombinant vaccine, e.g. Hepatitis B
Name an immunisation that is administered at birth.
BCG
Name 4 contraindications to immunisation
- Anaphylaxis
- Fever > 40.5 degrees Celsius within 48 hours of vaccination
- Live vaccines and pregnancy
- Live vaccines and immunosuppression
What is the name of the vaccine used for Pertussis?
DTaP
What are the two types of DTaP vaccines
- Acellular vaccine
2. Whole-cell pertussis vaccine
Name 2 adverse reactions of DTaP vaccine
- Malaise
- Fever
- Convulsions (rare)
Name a live attenuated bacterial vaccine
BCG
What adverse reaction to the live oral polio vaccine is the reason why it is no longer routinely recommended?
Vaccine-associated paralytic poliomyelitis (VAPP)
Name 2 vaccines that require boosts
DTap
Hib
How many doses of inactivated polio vaccine should children receive?
4
What is Haemophilus influenzae type b (Hib) vaccine conjugated to?
H. Influenzae type b capsular polysaccharide conjugated to a protein carrier
What are two contraindications for MMR vaccine?
- Pregnancy
- Untreated malignant disease
- Immunosuppressive therapy
List 2 indications for MMR vacine
- All children age 12 to 15 months
- A second dose a 4-5 years
List 2 adverse reactions of MMR vaccine
Fever
Headache
List 2 indications for pneumococcal vaccine
- 65 years and over
- Immunodeficiency
What are the 2 types of pneumococcal vaccines available?
- Polysaccharide pneumococcal vaccine
- Pneumococcal conjugate vaccine
List 3 types of influenza vaccine
- Inactivated whole virus vaccine
- Subvirion or split-virus vaccine
- Surface antigen vaccine
How much protection does the influenza vaccine confer? (%)
70-90% protection
List 2 indications for influenza vaccine
- Health care workers
- Immunosuppression
What vaccine contains recombinant HBsAg?
Hepatitis B vaccine
What are the 2 indications for Hepatitis B vaccine?
- Pre-exposure prophylaxis
2. Post-exposure prophylaxis
List 2 types of passive immunisation
- Non-specific immunoglobulins
2. Specific immunoglobulins
List 2 indications for non-specific immunoglobulins
- Measles prophylaxis
2. Hepatitis A prophylaxis
List 2 types of specific immunoglobulins
- Varicella-Zoster immunoglobulin
2. Hepatitis B immunoglobulin
What do COVID mRNA vaccines encode?
Spike protein
With the COVID mRNA vaccines, what receptor do the neutralising antibodies block the viral spike protein from binding to on the host cell?
ACE2 Receptor
What is the efficacy of COVID mRNA vaccines against death?
100%
List 2 TYPES of COVID vaccines
- mRNA vaccine
- Viral vector vaccine