First Aid Pathology

Front 1

Common congenital malformations

Back 1

Heart defects
Hypospadias
Cleft lip
Congenital hip dislocation
Spina bifida
Anencephaly
Pyloric stenosis

Front 2

Congenital malformation associated with projectile vomitting

Back 2

Pyloric stenosis

Front 3

Right to left shunts (early cyanosis) blue babies - name 3 causes

Back 3

3 T's
Tetralogy of Fallot
Transposition of great vessels
Truncus arteriosus

Front 4

Child may squat to increase venous return - what type of shunt?

Back 4

Right to left

Front 5

Left to right shunts (late cyanosis) - blue kids - name 3 causes

Back 5

VSD
ASD
PDA

Front 6

Close with indomethacin

Back 6

PDA

Front 7

Most common congenital cardiac anomaly

Back 7

VSD

Front 8

Loud S1, wide, split, fixed S2

Back 8

ASD

Front 9

Uncorrected VSD, ASD or PDA leads to progressive pulmonary hypertension. As pulmonary resistance increases shunt changes from Lto R to R to L which causes late cyanosis (clubbing and polycythemia)

Diagnosis

Back 9

Eisenmengers syndrome

Front 10

Name 4 parts of tetralogy of Fallot

Back 10

PROVe

Pulmonary stenosis
Right ventricular hypertrophy
Overriding aorta
VSD

Front 11

What do you see on xray in patient with tetralogy of Fallot

Back 11

Boot shaped heart due to RVH

Front 12

Cause of tetralogy of Fallot

Back 12

Anterosuperior displacement of infundibular septum

Front 13

Patient suffers from "cyanotic spells", x ray shows boot shaped heart - diagnosis?

Back 13

Tetraology of Fallot

Front 14

Aorta leaves RV (anterior) and pulmonary trunk leaves LV (posterior) --> separation of systemic and pulmonary circulation. Not compatible with life unless a shunt is present to allow adequate mixing of blood (VSD, PDA or patent foramen ovale)

Diagnosis?

Back 14

Transposition of great vessels

Front 15

Cause of transposition of great vessels

Back 15

Failure of aorticopulmonary septum to spiral

Front 16

Prognosis for transposition of great vessels

Back 16

Without surgical correction infants die within 1st month of life

Front 17

In infantile type of coarctation of aorta - aortic stenosis is proximal or distal to insertion of ductus arteriosus?

Back 17

Proximal (preductal)
INfantile = IN close to heart

Front 18

In adult type of coarctation of aorta stenosis is distal or proximal to ductus arteriosus

Back 18

Distal (postductal)

ADult= Distal to Ductus

Front 19

This condition is associated with notching of ribs, hypertension in upper extremities and weak pulses in lower extremities

Back 19

Coarctation of aorta

Front 20

What should you check in physical exam if suspect coarctation of aorta

Back 20

Femoral pulses

Front 21

Male to female ratio for coarctation of aort

Back 21

3:1

Front 22

In fetal period shunt is right to left (normal). In neonatal period, lung resistance decreases and shunt becomes left to right with subsequent RVH and failure (abnormal). Associated with a continuous "machine like" murmur - Name condition

Back 22

Patent ductus arteriosus

Front 23

Patency of ductus arteriosus is maintained by?

Back 23

PGE synthesis and low O2 tension

Front 24

What drug is used to close PDA

Back 24

Indomethacin

Front 25

Name drug used to keep PDA open which may be necessary to sustain life in conditions such as transposition of great vessels

Back 25

PGE

Front 26

Name defect associated with 22q11 syndromes

Back 26

Truncus arteriosus, tetralogy of Fallot

Front 27

Name congenital cardiac defect associated with Down syndrome

Back 27

ASD
VSD

Front 28

Name congenital cardiac defect associated with congenital rubella

Back 28

Septal defects
PDA

Front 29

Name congenital cardiac defect associated with Turners syndrome

Back 29

Coarctation of aorta

Front 30

Name congenital cardiac defect associated with offspring of a diabetic mother

Back 30

Transposition of great vessels

Front 31

Most common chromosomal disorder and cause of congenital mental retardation

Back 31

Down syndrome

Front 32

GI defect associated with Downs

Back 32

Duodenal atresia

Front 33

Which cancer is in increased risk for patients with Downs

Back 33

ALL

Front 34

Most common cardiac malformation in patients with Downs - cause?

Back 34

Septum primum type ASD due to endocardial cushion defects

Front 35

Decreased levels of alpha fetoprotein
Increased beta HCG
Increased nuchal translucency - diagnosis

Back 35

Downs

Front 36

Mental retardation, flat facial profile, prominent epicantal folds, simian crease - diagnosis?

Back 36

Downs trisomy 21

Front 37

95% of Downs are caused by _

4% ?

1%

Back 37

Nondisjunction

4% - Robertsonian translocation

1% - mosaicism

Front 38

Edwards syndrome is also called?

Back 38

Trisomy 18 (Election age)

Front 39

Baby is born with severe mental retardation, rocker bottom feet, low set ears, micrognathia (small jaw), congenital heart disease, clenched hands and prominent occiput- diagnosis + prognosis

Back 39

Edwards syndrome - trisomy 18

Death within 1 year

Front 40

Pataus syndrome is also called

Back 40

Trisomy 13

Front 41

Baby is born with severe mental retardation, microphthalmia, cleft lip/palate, abnormal forebrain structures, polydactyly, congenital heart disease - diagnosis + prognosis

Back 41

Pataus trisomy 13

Death within 1 year

Front 42

Klinefelters genotype

Back 42

XXY

Front 43

Testicular atrophy, eunuchoid body shape, tall, long extremities, gynecomastia, female hair distribution, presence of inactivated X chromosome (Barr body)

Back 43

Klinefelter syndrome

Front 44

Common cause of hypogonadism see in infertility workup

Back 44

Klinefelter syndrome

Front 45

Genotype for Turners syndrome

Back 45

XO

Front 46

Short stature, ovarian dysgenesis (streak ovary), webbing of neck, coarctation of aorta, no Barr body

Back 46

Turners

Front 47

Most common cause of primary amenorrhea

Back 47

Turners

Front 48

Phenotypically normal, very tall, severe acne, antisocial behavior, observed with increased freuency among inmates of penal institutions

Back 48

Double Y males XYY

Front 49

What type of mutation is Duschennes

Back 49

Frameshift mutation --> deletion of dystrophin gene --> accelerated muscle breakdown

Front 50

Inheritance for Duschennes

Back 50

X linked

Front 51

Where does weakness begins in patients with Duschennes

Back 51

Pelvic girdle and moves superiorly

Front 52

5 year old male presents with pseudohypertrophy of calf muscles and cardiac myopathy - name condition and cause

Back 52

Duschennes - replacement of muscle by fibrofatty tissue

Front 53

7 year old male requires assistance of the upper extremities to stand up (proximal lower limb weakness) - name phenomenon and condition

Back 53

Gowers maneuver - Duschennes muscular dystrophy

Front 54

How do you diagnose muscular dystrophies

Back 54

By increased CPK and muscle biopsy

Front 55

Disagreement between phenotypic (external genitalia) and gonadal (testes vs ovaries) sex

Back 55

Pseudohermaphroditism

Front 56

Ovaries are present but external genitalia are virilized or ambiguous - name condition + cause

Back 56

Female pseudohermaphroditism

Due to excessive and inappropriate exposure to androgenic steroids during early gestation (congenital adrenal hyperplasia or exogenous administration of androgens during pregnancy)

Front 57

Testes present but external genitalia are female or ambiguous - name condition + cause

Back 57

Male pseudohermaphroditism - androgen insensitivity syndrome (testicular feminization)

Front 58

Both ovary and testicular tissue present, ambiguous genitalia - very rare

Possible genotypes?

Back 58

True hermaphrodite

46 XX or 47 XXY

Front 59

Defect in androgen receptor resulting in normal appearing female, female external genitalia with rudimentary vagina, uterus and uterine tubes are absent. develops testicular tissue(often found in labia majora, surgically removed to prevent malignancy)

Name condition + genotype + what happens to levels of estrogen, testosterone and LH

Back 59

Androgen insensitivity syndrome

46 XY

Levels of testosterone, estrogen and LH are all high

Front 60

Unale to convert testosterone to DHT, ambiguous genitalia until puberty, when increased testosterone causes masculinization of genitalia

Name condition + what happens to levels of estrogen, testosterone and LH

Back 60

5 alpha-reductase defficiency

Testosterone and estrogen levels are normal, LH normal or increased

Front 61

Congenital deletion of short arm of chromosome 5 leads to _

Back 61

Cri-du-chat syndrome

Front 62

Microcephaly, severe mental retardation, high pitched crying/meowing, epicanthal folds, cardiac abnormalities

Back 62

Cri-du-chat syndrome

Front 63

2nd most common cause of genetic mental retardation

Back 63

Fragile X

Front 64

X linked defect affecting methylation and expression of FMR1 gene, associated with macro-orchidism (enlarged testes), long face with large jaw, large everted ears and autism

Back 64

Fragile X

Front 65

What type of mutation is in Fragile X

Back 65

Triple repeat disorder (CGG) that may show genetic anticipation (germlike expansion in females)

Front 66

Cleft palate
Abnormal facies
Thymic aplasia
Cardiac defects
Hypocalcemia

2 types of disorders

Back 66

22q11 syndromes - DiGeorge syndrome (thymic, parathyroid and cardiac defects) or velocardiofacial syndrome (palate, facial and cardiac defects)

Front 67

Adult polycystic kidney disease - unilateral or bilateral

Back 67

ALWAYS bilateral

Front 68

Patient presents with pain, hematuria, hypertension, progressive renal failure, 90% of mutations are due to mutation in APKD1 (chromosome 16)

Back 68

Adult polycystic kidney disease - massive enlargement of kidneys due to multiple large cysts

Front 69

Name conditions associated with adult polycystic kidney disease

Back 69

Polycystic liver disease
BERRY ANEURYSMS
Mitral valve prolapse

Front 70

What is the inheritance for adult form of polycystic kidney disease?

juvenile?

Back 70

Adult - autosomal dominant

Juvenile - autosomal recessive

Front 71

Patient has high cholesterol (heterozygotes 300, homozygotes - rare- 700), severe atherosclerotic disease early in life and tendon xanthomas (classically in Achilles tendon), MI may develop before age 20

Name disease and cause

Back 71

Familial hypercholesterolemia (hyperlipidemia type IIa)

Elevated LDL owing to defective or absent LDL receptor

Front 72

Cause of Marfans disease

Back 72

Fibrillin gene mutation -> connective tissue disorders

Front 73

Skeletal abnormalities in Marfans syndrome

Back 73

Tall with long extremities, hyperextensive joints, and long, tapering fingers and toes

Front 74

Cardiovascular abnormalities in Marfans syndrome

Back 74

Cystic medial necrosis of aorta --> aortic incometence and dissecting aortic aneurysms

Floppy mitral valve

Front 75

Occular abnormality in Marfans syndrome

Back 75

Subluxation of the lens

Front 76

Findings in neurofibromatosis type I (von Riecklinghausen disease)

Back 76

Cafe-au-lait spots
Neural tumors
Lisch nodules (pigmented iris hamartomas)

Also marked by skeletal disorders (scoliosis) and increased tumor susceptibility

Front 77

Gene coding for NFT type I (von Riecklinghausen disease) located where?

Back 77

Long arm of chromosome 17 (17 letters in Recklinghausen)

Front 78

Gene coding for NFT type II is located where?

Back 78

On chromosome 22

Front 79

Patient presents with bilateral acoustic neuromas, optic pathway gliomas, juvenile cataracts - diagnosis?

Back 79

Type II NFT

Front 80

Findings: facial lesions (adenoma sebaceum), hypopigmented "ash leaf spots" on skin, cortical and retinal hamartomas, seizures, mental retardation, renal cysts, cardiac rhabdomyomas. Incomplete penetrance, variable presentation

Back 80

Tuberous sclerosis

Front 81

Findings: hemangioblastomas of retina/cerebellum/medulla, about half of affected individuals develop multiple bilateral renal cell carcinomas and other tumors - name disease, which gene affected and inheritance

Back 81

Von Hippel Lindau disease

Deletion of VHL gene (tumor suppressor) on chromosome 3 (3p)

Autosomal dominant

Front 82

Findings - depression, progressive dementia, choreiform movements, caudate atrophy and decreased levels of GABA and Ach in brain, symptoms manifest between 20 and 50 - name disorder, what type of disorder, inheritance + which chromosome affected

Back 82

Huntingtons

Triplet repeat disorder

Autosomal dominant

Gene on chromosome 4

Front 83

Colon becomes covered wiith adenomatous polyps after puberty. Progresses to cancer unless resected - name disease and chromosome on which deletion occurs+ inheritance pattern

Back 83

Familial adenomatous polyposis - deletion on chromosome 5, autosomal dominant

Front 84

Spheroid erythrocytes, hemolytic anemia, increased MCHC - name disease + what is curative + inheritance pattern

Back 84

Hereditary spherocytosis

Splenectomy is curative

Autosomal dominant

Front 85

Autosomal dominant cell-signalng defect of fibroblast growth factor (FGF) receptor 3. Results in dwarfism, short limbs but head and trunk are normal size - name disease

Back 85

Achondroplasia

Front 86

Inheritance pattern for cystic fibrosis

Back 86

Autosomal recessive

Front 87

Inheritance pattern for albinism

Back 87

Autosomal recessive

Front 88

Inheritance pattern for alpha1-antitrypsin defficiency

Back 88

AR

Front 89

Inheritance pattern for PKU

Back 89

AR

Front 90

Inheritance pattern for thalassemias and sickle cell anemias

Back 90

AR

Front 91

Inheritance pattern for glycogen storage disorders

Back 91

AR

Front 92

Inheritance pattern for mucopolysaccharidoses - ?

EXCEPT - >

Back 92

AR

EXCEPT Hunters

Front 93

Inheritance pattern for sphingolipidoses- ?

EXCEPT- ?

Back 93

AR

EXCEPT Fabrys

Front 94

Inheritance pattern for infant polycystic kidney disease

Back 94

AR

Front 95

Inheritance pattern for hemochromatosis

Back 95

AR

Front 96

Infertility in males with cystic fibrosis is due to?

Back 96

Absence of vas deferens

Front 97

Which vitamins are defficient in patients with cystic fibrosis

Back 97

Fat soluble ADEK

Front 98

Cystic fibrosis can present as _ in infancy

Back 98

Failure to thrive

Front 99

Most common lethal genetic disease of Caucasians

Back 99

Cystic fibrosis

Front 100

Treatment of cystic fibrosis

Back 100

N-acetylcysteine to loosen mucous plugs

Front 101

Cause of cystic fibrosis + how it presents

Back 101

Autosomal recessive defect in CFTR gene on chromosome 7. Defective Cl channel -->secretion of abnormally thick mucus that plugs lungs, pancreas and liver --> recurrent pulmonary infections (Pseudomonas and S aureus), chronic bronchitis, bronchiectasis, pancreatic insufficiency (malabsorption and steatorrhea), meconium ileus in newborns

Front 102

Diagnostic test for cystic fibrosis

Back 102

Increased concentration of Cl ions in sweat

Front 103

Associated with low folic acid intake during pregnancy, elevated alpha fetoprotein in amniotic fluid and maternal serum

Back 103

Neural tube defects

Front 104

Failure of bony spinal canal to close but no structural herniation, usually seen at lower vertebral levels

Back 104

Spina bifida occulta

Front 105

Meninges herniate through spinal canal defect

Back 105

Meningocele

Front 106

Meninges and spinal cord herniate through spinal canal defect

Back 106

Meningomyelocele

Front 107

Mechanism of fetal alcohol syndrome

Back 107

Inhibition of cell migration

Front 108

Newborn presents with postnatal developmental retardation, microcephaly, facial abnormalities, limb dislocation and heart and lung fistulas - probable cause?

Back 108

Fetal alcohol syndrome

Front 109

# 1 cause of congenital malformation in USA

Back 109

Fetal alcohol syndrome

Front 110

Increase in number of cells (reversible)

Back 110

Hyperplasia

Front 111

One adult cell type is replaced by another (reversible) - often secondary to irritation and/or environmental exposure

Back 111

Metaplasia

Front 112

Abnormal growth with loss cellular orientation, shape, and size in comparison to normal tissue maturation, commonly preneoplastic (reversible)

Back 112

Dysplasia

Front 113

Abnormal cells lacking differentiation, like primitive cells of same tissue, often equated with undifferentiated malignant neoplasms, tumor giant cells may be formed

Back 113

Anaplasia

Front 114

Clonal proliferation of cells that is uncontrolled and excessive

Back 114

Neoplasia