Notes in L1 Pediartic Patholgy 1

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Published	08/13/2023	Hypoparathyroidism is most commonly a result of {{c1::thyroid surgery}}, or less commonly may be {{c3::autoimmune}} or {{c2::congenital}}
Published	08/13/2023	{{c3::Sertoli}} cells (males) secrete {{c1::inhibin B::specific}}, which serves to inhibit {{c2::FSH}}
Published	08/13/2023	{{c2::Sertoli}} cells secrete {{c1::androgen-binding protein}} which serves to maintain local levels of testosterone
Published	08/13/2023	Which cell type of the seminiferous tubule regulates spermatogenesis?{{c1::Sertoli cells}}
Published	08/13/2023	What is the location of germ cells and Sertoli cells in relation to the seminiferous tubules? {{c1::Form the lining}}
Published	08/13/2023	The Sertoli cells release a substance called {{c1::inhibin B::specific}} which causes decreased secretion of {{c2::FSH}} (negative feedback)
Published	08/13/2023	Which hormone directly inhibits the secretion of LH in males? {{c1::Testosterone}}
Published	08/13/2023	What is most commonly the effect of teratogens during the weeks 3-8 of gestation?{{c1::Organ malformation}}
Published	08/13/2023	Risk factors for testicular germ cell tumor include {{c1::cryptorchidism}} and {{c1::Klinefelter syndrome}}
Published	08/13/2023	Male breast cancer is associated with {{c1::BRCA2}} mutation and {{c1::Klinefelter}} syndrome Pts also prone to developing extragonadal germ cell tumo…
Published	08/13/2023	{{c2::Klinefelter}} syndrome is most commonly characterized by a {{c1::47}},{{c1::XXY}} karyotype
Published	08/13/2023	Which sex chromosome disorder is associated with gynecomastia, female hair distribution, tall/long extremities and eunuchoid body shape in a male? {{c…
Published	08/13/2023	What is the level of testosterone in a patient with Klinefelter syndrome?{{c1::Decreased (seminiferous tubule dysgenesis, abnormal Leydig cell functio…
Published	08/13/2023	What is the level of estrogen in a patient with Klinefelter syndrome?{{c1::Increased}}
Published	08/13/2023	Klinefelter syndrome is associated with testicular {{c1::atrophy::size}}
Published	08/13/2023	Which sex chromosome disorder is associated with short stature, shield chest, and webbed neck in a female? more unique feature: {{c2::cubitus valgus}}…
Published	08/13/2023	What is the most common cause of primary amenorrhea? {{c1::Turner's syndrome}}
Published	08/13/2023	What is the level of estrogen in a patient with Turner syndrome?{{c1::decreased (due to ovarian dysgenesis)}}
Published	08/13/2023	Turner syndrome is associated with preductal {{c2::coarctation of the aorta}}, which may present as a femoral pulse {{c1::less}} than brachial pulse
Published	08/13/2023	In general, sex chromosome disorders (e.g. Turner's, Klinefelter) present with {{c1::decreased}} testosterone and/or estrogen and {{c1::increased}} LH
Published	08/13/2023	{{c2::Turner}} syndrome is most commonly characterized by a {{c1::45}},{{c1::XO}} karyotype
Published	08/13/2023	Compared to normal, what changes detected by a neonatal quad screen would be indicative of trisomy 21? AFP: {{c1::decreased}}Estriol: {{c1::decreased}…
Published	08/13/2023	Which trisomy(trisomies) are characterized by increased levels of hCG?{{c1::Trisomy 21 (down syndrome)}}
Published	08/13/2023	{{c1::Oligohydramnios}} is the presence of too little amniotic fluid and may be associated with placental insufficiency, bilateral renal agenesis, and…
Published	08/13/2023	Is Klinefelter syndrome characterized by the presence of an inactivated X chromosome (Barr body)?{{c1::Yes}}
Published	08/13/2023	Is Turner syndrome characterized by the presence of an inactivated X chromosome (Barr body)?{{c1::No (45,XO)}}
Published	08/13/2023	Gynecomastia is associated with increased levels of {{c1::estrogen}} (e.g. {{c3::cirrhosis::liver}}), decreased levels of androgens (ex {{c2::Klinefel…
Published	08/13/2023	What morning sickness drug (no longer used) inadvertently prevents binding of homeodomain proteins to enhancers, thus causing limb abnormalities? {{c1…
Published	08/13/2023	What is the most common cause (95%) of Down syndrome? {{c1::Meiotic nondisjunction, extra chromosome 21 in every cell}}
Published	08/13/2023	4% of cases of Down syndrome are due to unbalanced {{c1::Robertsonian translocation}}
Published	08/13/2023	1% of cases of Down syndrome are due to {{c1::mosaicism}}
Published	08/13/2023	What is the most common cause of genetic intellectual disability? {{c1::Down syndrome}}
Published	08/13/2023	Down syndrome may present with {{c1::increased}} nuchal translucency on ultrasound
Published	08/13/2023	Down syndrome presents with {{c1::decreased}} serum PAPP-A
Published	08/13/2023	Down syndrome presents with {{c1::increased}} free β-hCG
Published	08/13/2023	Down syndrome presents with {{c1::increased}} inhibin A
Published	08/13/2023	Down syndrome presents with {{c1::decreased}} estriol
Published	08/13/2023	Down syndrome presents with {{c1::decreased}} free α-fetoprotein (AFP)
Published	08/13/2023	What pathology is associated with intellectual disability, prominent epicanthal folds, and a single palmar crease? {{c1::Down syndrome}}
Published	08/13/2023	What chromosomal abnormality is associated with Down syndrome?{{c1::Trisomy 21}}
Published	08/13/2023	Ventricular septal defect (VSD) is associated with {{c1::fetal alcohol}} syndrome
Published	08/13/2023	Ostium {{c1::primum}} is a less common type of atrial septal defect that is associated with {{c2::Down}} syndrome
Published	08/13/2023	The infantile form of coarctation of the aorta is associated with {{c1::Turner}} syndrome
Published	08/13/2023	Coarctation of the aorta is associated with a {{c1::bicuspid}} aortic valve (aortic stenosis/calcifications) and an increased risk of developing {{c2:…
Published	08/13/2023	Pulmonary hypoplasia is associated with bilateral {{c1::renal agenesis (Potter sequence)}} and congenital {{c2::diaphragmatic hernia}}
Published	08/13/2023	What sex chromosome disorder is associated with horseshoe kidney? {{c1::Turner syndrome}}
Published	08/13/2023	The primary abnormality in Potter sequence is {{c1::oligo}}-hydramnios
Published	08/13/2023	In Potter sequence, oligohydramnios leads to pulmonary {{c1::hypoplasia}}
Published	08/13/2023	In Potter sequence, oligohydramnios causes {{c1::compression}} of the developing fetus
Published	08/13/2023	In Potter sequence, compression of the developing fetus results in a {{c1::flat}} face with {{c2::low-set}} ears
Published	08/13/2023	In Potter sequence, compression of the developing fetus results in limb {{c1::deformities}}
Published	08/13/2023	Potter sequence may cause {{c1::retrognathia}}, which is the abnormal positioning of the mandible
Published	08/13/2023	What is the cause of death in Potter sequence? {{c1::Pulmonary hypoplasia}}
Published	08/13/2023	Which form of polycystic kidney disease may cause Potter sequence? {{c1::Autosomal recessive PKD}}
Published	08/13/2023	Potter sequence may be caused by chronic {{c1::placental}} insufficiency
Published	08/13/2023	Potter sequence may be caused by {{c1::bladder outlet obstruction}} (e.g. posterior urethral valves)
Published	08/13/2023	What chromosomal abnormality is commonly associated with endocardial cushion defects? {{c1::Trisomy 21 (Down syndrome)}}
Published	08/13/2023	Holoprosencephaly is seen in {{c1::Patau}} syndrome and {{c2::fetal alcohol}} syndrome
Published	08/13/2023	{{c3::Acute lymphoblastic}} leukemia is associated with {{c1::Down}} syndrome; usually arises {{c2::after}} the age of 5 years
Published	08/13/2023	{{c3::Acute megakaryoblastic}} leukemia is associated with {{c1::Down}} syndrome; usually arises {{c2::before}} the age of 5
Published	08/13/2023	Patients with {{c1::Down}} syndrome have an increased risk for developing Alzheimer disease
Published	08/13/2023	Down syndrome patients often develop Alzheimer disease by age {{c1::40}}
Published	08/13/2023	Aβ amyloid is derived from {{c1::amyloid precursor (APP)}} protein, which is encoded on chromosome {{c2::21}}
Published	08/13/2023	{{c2::Duodenal}} atresia is associated with {{c1::Down}} syndrome
Published	08/13/2023	{{c2::Hirschsprung}} disease is a congenital megacolon associated with {{c1::Down}} syndrome
Published	08/13/2023	DiGeorge syndrome is a developmental failure to develop the {{c1::3rd}} and {{c1::4th}} pharyngeal pouches
Published	08/13/2023	DiGeorge syndrome may present with {{c2::tetany}}, secondary to hypocalcemia
Published	08/13/2023	DiGeorge syndrome is characterized by {{c1::decreased}} number of T cells
Published	08/13/2023	DiGeorge syndrome is characterized by {{c1::decreased}} serum parathyroid hormone
Published	08/13/2023	DiGeorge syndrome is characterized by {{c1::decreased}} Ca2+bc parathyroid hypoplasia --> hypocalcemia --> peripheral neurapathy, muscle weaknes…
Published	08/13/2023	DiGeorge syndrome is characterized by an absent {{c1::thymic shadow}} on CXR
Published	08/13/2023	What vascular tumor is a cavernous lymphangioma of the neck, associated with Turner syndrome?{{c1::Cystic hygroma}}
Published	08/13/2023	Which gene of embryogenesis malfunctioned if a patient develops syndactyly and/or polydactyly? {{c1::Homebox (hox) genes}}
Published	08/13/2023	Which weeks of embryogenesis are most susceptible to teratogens? {{c1::Weeks 4-9 (embryonic period), peak 4-5th week}}
Published	08/13/2023	Which error in morphogenesis is characterized by secondary breakdown of previously normal tissue?{{c1::Disruption (e.g. amniotic band syndrome)}}
Published	08/13/2023	Which error in morphogenesis is characterized by extrinsic disruption (after the embryonic period)? {{c1::Deformation}}
Published	08/13/2023	Which primary error in morphogenesis is characterized by intrinsic disruption (during embryonic period)? child is normal other than thi…
Published	08/13/2023	What is the leading cause of intellectual disability in the US? {{c1::Fetal alcohol syndrome}}
Published	08/13/2023	What is the mechanism by which fetal alcohol syndrome manifests?{{c1::Failure of neuronal and glial cell migration}}
Published	08/13/2023	What teratogen causes a smooth philtrum and thin upper lip in newborns?{{c1::Alcohol (fetal alcohol syndrome)}}
Published	08/13/2023	In it's most severe form, fetal alcohol syndrome may cause {{c1::heart-lung}} fistulas and holoprosencephaly
Published	08/13/2023	What is the most common cause of death in infants < 1 years old? {{c1::Congenital malformation}}
Published	08/13/2023	What chromosomal abnormality is associated with intellectual disability, rocker-bottom feet, cleft lip/palate, and small eyes? {{c1::Trisomy 13 (Patau…
Published	08/13/2023	Low levels of α-fetoprotein (AFP) are seen in Trisomy {{c1::21 (Down's)}} and decreased levels are seen in {{c2::Turner}} Syndrome
Published	08/13/2023	Females with Turner Syndrome due to an (45,XO genotype) are more likely to have what type of concurrent disorders?{{c1::X-linked recessive disorders}}
Published	08/13/2023	The 5A's of down syndrome are:A{{c1::dvanced maternal age}}A{{c2::tresia (Duodenal) = Double bubble sign} and esophageal}A{{c3::trioventricular septal…
Published	08/13/2023	What is the most common complication of Turner Syndrome?{{c1::Bicuspid aortic valve (20-30%)}}
Published	08/13/2023	Fetal alcohol syndrome and DiGeorge syndrome may predispose to {{c1::Tetralogy of Fallot::which primary immunodeficiency?}}
Published	08/13/2023	Potter sequence may be caused by {{c1::obstructive uropathy}} (eg. posterior urethral valves).
Published	08/13/2023	The features of a chromosome 22q11 microdeletion (DiGeorge Syndrome) may be remembered with the mnemonic "CATCH 22": C: {{c1::Cleft palate}}A: {{c1::A…
Published	08/13/2023	What cause of intellectual disability is associated with small palpebral fissures, smooth philtrum, and thin vermillion border?{{c1::Fetal alcohol syn…
Published	08/13/2023	Infants of diabetic mothers are at increased risk of {{c1::congenital}} malformations, such as cardiac and CNS, renal, and limb deformities.
Published	08/13/2023	DiGeorge syndrome is associated with increased susceptibility to {{c1::intra}}cellular infections (eg, bacterial, viral, fungal)
Published	08/13/2023	22q11.2 microdeletion can cause {{c1::velocardiofacial}} syndrome, which is similar DiGeorge syndrome except the thymus is no…
Published	08/13/2023	{{c1::Velocardiofacial}} syndrome is an immunodeficiency with a normal thymus that presents clinically as abnormal …
Published	08/13/2023	Maternal diabetes leads to fetal hyperinsulinemia --> {{c2::fetal macrosomia}} (organmegaly, increased body fat & muscle mass), cardiac defects…
Published	08/13/2023	{{c1::Turner syndrome}} occurs as a result of partial/complete monosomy of genes on short arm of X chromosome, so always will be a female patient
Published	08/13/2023	{{c1::Klinefelter}} have sterility, testicular atrophy, less body hair, gynocomastia, eunuchoid body habitus (tall, slim, under weight) -->&nb…
Published	08/13/2023	Klinefelter have {{c2::decreased}} testosterone & {{c1::less}} inhibin B --> increased LH, FSH --> increased estogen
Published	08/13/2023	Examples of {{c1::malformation}} (intrinsic defects) leading to poor localized development include polydactyly, syndactyly, cleft palate, congenital h…
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