Term
| What's the difference between deformation and disruption? |
|
Definition
deformation: extrinsic disturbance of development (biomechanical)
disruption: secondary destruction, extrinsic disturbance in morphogenesis |
|
|
Term
| What do you call a primary error of morphogenesis? |
|
Definition
|
|
Term
| What do you call single localized aberration in organogenesis that leads to other effects in other organs? |
|
Definition
| sequence or cascade of anomalies |
|
|
Term
| What do you call a constellation of anomalies, occurring together, and not explained by a single localized defect? |
|
Definition
|
|
Term
| What do you call absence of an organ and primordium? |
|
Definition
|
|
Term
| What do you call absence of organ due to failure of primordium? |
|
Definition
| aplasia (aplastic anemia= defect in marrow) |
|
|
Term
| What do you call a translocation that causes down's syndrome? |
|
Definition
|
|
Term
| name two examples of genetic abnormalities caused by a single autosomal gene mutation. |
|
Definition
| holoprosencephaly (loss of function of hedgehod signaling pathway), achondroplasia (gain of function, fibroblast growth factor receptor 3, inhibitor of bone growth) |
|
|
Term
| What is the tetrad of congenital rubella syndrome? |
|
Definition
| cateracts, heart (PDA, pul stenosis, VSD, tetrology), deafness, mental retardation |
|
|
Term
| At what ages does contracting rubella cause congenital rubella syndrome? |
|
Definition
| 0-4 weeks=50% 5-8 weeks= 20% 9-12 weeks= 7% |
|
|
Term
| When are fetuses most susceptable to CMV caused congenital abnormalities? |
|
Definition
|
|
Term
| What congenital abnormalities are caused by CMV? |
|
Definition
| mental retardation, microcephaly, deafness |
|
|
Term
| What drug causes limb reductions and how? |
|
Definition
| thalidomide via downregulation of wingless (WNT) signaling pathway via upregulation of endogenous WNT repressor |
|
|
Term
| What are the symptoms of FAS? |
|
Definition
| growth retardation, microcephaly, atrial septal defect, short palpebral fissures, maxillary hypoplasia |
|
|
Term
| What is the pathophysiology of FAS? |
|
Definition
| disrupts retinoic acid and hedgehog signaling pathway |
|
|
Term
| What effects does smoking have on fetus/newborn? |
|
Definition
low birth weight, prematurity, abortions
SIDS |
|
|
Term
| What congenital malformations does irradiation cause? |
|
Definition
| microcephaly, blindness, skull defects, spina bifida |
|
|
Term
| What are the symptoms caused by diabetic emryopathy? |
|
Definition
| fetal macrosomia, cardiac, neural tube defects, caudal regression |
|
|
Term
| congenital dislocation of the hip is caused by... |
|
Definition
| multifactorial: genetics (shallow hip socket, lax ligaments) + environment (breech position in utero) |
|
|
Term
| When is teh fetus most suscetible to congenital abnormalities? |
|
Definition
|
|
Term
| How does valproic acid cause congenital abnormalities? |
|
Definition
| disrupts homeobox genes, responsible for patterns of limbs, vertebrae, craniofacial |
|
|
Term
|
Definition
| a drug that interferes with hedgehog signaling, causes holoprosencephaly |
|
|
Term
| What types of congenital abnormalities does absence of vitamin A cause? |
|
Definition
| malformations of eyes, heart, GU system, diaphragm and lungs |
|
|
Term
| What does vitamin A excess cause? |
|
Definition
| embryopathy of CNS, cardiac, craniofacial-clefts (retinoic acid mediated deregulation of TGF-beta signaling palatogenesis) |
|
|
Term
| What percentile is designated as AGA? |
|
Definition
|
|
Term
|
Definition
|
|
Term
| WHen are apgar scores taken? |
|
Definition
| at 1 and 5 minutes post birth |
|
|
Term
| What are the categories for apgar scores? How many points for each category? |
|
Definition
| heart rate, muscular tone, respiratory effort, color, stimulation response (0-2) |
|
|
Term
| A total apgar score of 0-1 at 5 minutes has what prognosis? |
|
Definition
|
|
Term
| A total apgar score of 4 at 5 minutes has what prognosis? |
|
Definition
| 20% mortality at one month |
|
|
Term
| At what 5 min apgar score is the mortality rate virtually zero? |
|
Definition
|
|
Term
| What is the second most frequent cause of neonatal mortality? |
|
Definition
|
|
Term
| What predisposes a mother to premature rupture of membranes before labor? |
|
Definition
| smoking, previous PPROM, vaginal bleeding, low socioeconomic status, poor maternal nutrition |
|
|
Term
| What do you call the maternal and fetal responses to intrauterine infection? |
|
Definition
| chorioamnionitis and funisitis |
|
|
Term
| What intrauterine infections cause preterm births? |
|
Definition
| ureaplasma urealyticum, mycoplasma hominis, gardenella vaginalis, trichomonas, gonorrhea, chlamydia, b hemolytic strep, coliforms |
|
|
Term
| How do intrauterine infections cause prematurity? |
|
Definition
| TLR-4 binds bacterial ligands and is upregulated, degregulating prostaglandin syntehsis, leads to uterine contraction |
|
|
Term
| T/F Multiple gestations causes prematurity. |
|
Definition
|
|
Term
| What placental abnormalities can cause prematurity? |
|
Definition
| placental previa, and placental abruption |
|
|
Term
| Which infections cause fetal growth restriction? |
|
Definition
| toxoplasma, other (syphylis), rubella, CMV, herpes |
|
|
Term
| If fetal growth restriction is symmetric then... if disproportionate then... |
|
Definition
| symmetric= fetal cause of growth restriction; disproportionate= extrafetal cause |
|
|
Term
| How can the placental cause fetal growth restriction? |
|
Definition
| interruptions in vessels, abnormalities in villi (infarcts, infections), confined placental mosaicisms (trisomy 7), |
|
|
Term
| What type of restricted growth will placental abnormalities cause? |
|
Definition
| assymmetric reduction in fetal size; head/brain is spared. Physiologic downregulation of growth because of limited O2 or nutrients |
|
|
Term
| What are maternal causes of fetal growth restriction? |
|
Definition
| vascular disease, toxemia of pregnancy, inherited thrombophilias (factor V leiden mutation), drugs and alcohol, smoking, malnutrition |
|
|
Term
| What are the stages of lung development? |
|
Definition
0-17 weeks= glandular phase
17-24 weeks= canalicular phase
26-32 weeks= saccular stage
>32 weeks: alveolar |
|
|
Term
| What happens during the canalicular phase? |
|
Definition
| blood vessels approach respiratory spaces |
|
|
Term
| What happens during the saccular stage? |
|
Definition
| flattening of type I pneumocytes; type II pneumocytes contain lamellar bodies |
|
|
Term
| When does "biochemical maturation" of the lungs occur? |
|
Definition
|
|
Term
| What are complications of prematurity? |
|
Definition
| respiratory distress syndrome of the newborn (hyaline membrane disease), necrotizing enterocolitis, sepsis, intraventricular hemorrhage (neurologic developmental delay), PDA |
|
|
Term
| What are increased risk factors for neonatal respiratory distress? |
|
Definition
| preterm, AGA, male, maternal diabetes, C-section |
|
|
Term
| What are the characteristics of neonatal respiratory distress? |
|
Definition
| respiratory difficulty begins about 30 minutes, increasing oxygen requirements, xray shows ground glass appearance, may resolve after 3-4 days |
|
|
Term
| What factor helps you predict the severity of neonatal respiratory distress? |
|
Definition
| inversely proportional to gestational age |
|
|
Term
| What causes neonatal distress syndrome? |
|
Definition
|
|
Term
|
Definition
| dipalmitoyl phosphatidylcholine (lecithin), phosphatidylglycerol |
|
|
Term
| Describe the function of the surfactant associated proteins. |
|
Definition
SP-A, SP-D= host defense
SP-B, SP-C= reduction of surface tension |
|
|
Term
| When does surfactant start to be produced? |
|
Definition
|
|
Term
| Why is neonatal respiratory distress associated with c section? |
|
Definition
| glucocorticoids (from stressed out mom in labor) induce surfactant production |
|
|
Term
| What causes hyaline membranes? |
|
Definition
| damaged lining pneumocyte and endothelial cells, mixed with plasma components. Oxygen may contribute (never seen in still birth) |
|
|
Term
| Does haline membrane disease get better? |
|
Definition
| resolves in a few days either completely or with scarring |
|
|
Term
| How do you treat neonatal respiratory distress? |
|
Definition
| delay delivery, monitor AF for surfactant (lecithin/sphingomelin ratio), steroids to induce type II maturation, external surfactant replacement, respiratory support |
|
|
Term
| What types of ventillation patterns should be used for neonatal respiratory distress syndrome? |
|
Definition
| low pressure-high frequency ventilation |
|
|
Term
| What is the definition of bronchopulmonary dysplasia? |
|
Definition
| defined clinically by 28 days of oxygen therapy, 36 week GA |
|
|
Term
| What is bronchopulmonary dysplasia? |
|
Definition
| decreased number of alveoli (hypoplasia), simplificaiton; abnormal vascularization |
|
|
Term
| What causes bronchopulmonary dysplasia? |
|
Definition
| barotrauma, oxygen, cytokines |
|
|
Term
| How do you treat bronchopulmonary dysplasia? |
|
Definition
| steroids, gentle ventillation, surfactant |
|
|
Term
| How does oxygen toxicity affect the eye? |
|
Definition
| neovascularizaiton of retina via vascular endothelial growth factor (VEGF) leads to retrolental fibroplasia (retinopathy of prematurity) |
|
|
Term
| T/F Necrotizing enterocolitis is a multifactorial condition. |
|
Definition
|
|
Term
| What causes necrotizing enterocolitis? |
|
Definition
| introduction of bacteria after oral feeding in infant (usually premature) results in ischemia (generalized or selective) and platelet activating factor taht increases permeability by promoting apoptosis |
|
|
Term
| What are the symptoms/signs of necrotizing enterocolitis? |
|
Definition
| bloody diarrhea, penumatosis intestinalis |
|
|
Term
| What is pneumatosis intestinalis? |
|
Definition
| gas bubbles in the intestines |
|
|
Term
| What is the germinal matrix? |
|
Definition
| source of developing cells of brain in the zone immediately beneath the ventricular ependyma |
|
|
Term
| Why are preterm infants susceptible to cerebral hemorrhage? |
|
Definition
| microcirculation susceptible to hypoxia and changes in perfusion pressure |
|
|
Term
| What does a germinal matrix hemorrhage lead to? |
|
Definition
| rupture into ventricles can cause hydrocephalus, herniation, extension into overlying brain |
|
|
Term
| T/F Germinal matrix hemorrhage is common. |
|
Definition
|
|
Term
| What are common transcervical (ascending) perinatal infections? |
|
Definition
| bacterial, herpes leading to chorioamnionitis and pneumonia, spesis and meningitis |
|
|
Term
| Name some hematologic perinatal infections? |
|
Definition
| parasitic, viral, few bacteria (listeria, treponema), TORCH, parvovirus B19 (interferes with RBC production) |
|
|
Term
| What are the characteristics of early onset neonatal sepsis? |
|
Definition
| early onset within 1 week. Caused by pneuonia/meningitis via the organism group B streptococcus and coliforms |
|
|
Term
| When does late onset sepsis occur? What organisms cause it? |
|
Definition
| 1 week- 3 months, candida and listeria (need incubation time) |
|
|
Term
| What condition predisposes babies to birth injuries? |
|
Definition
|
|
Term
| name some possible birth injuries. |
|
Definition
| clavicular fracture, facial nerve palsy, brachial plexus, intracranial injury, humeral fracture, lacerations |
|
|
Term
| What is the most significant birth injury? |
|
Definition
|
|
Term
| Excessive sudden pressure change during birth cause intracranial hemorrhage via... |
|
Definition
| brain tears, vascular tears (dural, vessels that course through the brain) |
|
|
Term
| What is fluid under the scalp after birth called? |
|
Definition
|
|
Term
| What is bleeding into the scalp after birth called? |
|
Definition
|
|
Term
| what other issues is cephalohematoma associated with? |
|
Definition
| 25% with skull fracture and increased bilirubin |
|
|
Term
|
Definition
| congestive heart failure with massive edema |
|
|
Term
| Waht are the non immune causes of fetal hydrops? |
|
Definition
| CV, chromosomal, thoracic, anemia, twin-twin transfusion, infections, malformations, tumors, metabolic |
|
|
Term
| What is immune hydrops caused by? |
|
Definition
| fetal hemolysis due to blood group incompatibility |
|
|
Term
| Can IgG or IgM cross the placenta? |
|
Definition
|
|
Term
| Why is Rh antigen a bigger deal than A or B antigen on fetal RBCs? |
|
Definition
| Rh is well expressed on fetal red blood cells while A and B are not. Also, A and B antigens are expressed on a wider variety of fetal tissues (more places for antibodies to attack) |
|
|
Term
| Fetal anemia from immune hydrops causes... |
|
Definition
| CHF, organomegaly, extramedullary hematopoiesis, death in utero |
|
|
Term
| What is the treatment for Rh hemolytic disease? |
|
Definition
| RhoGam (rhesus immune globulin-RhIg), post-natal exchange transfusion, intrauterine transfusion |
|
|
Term
| T/F ABO hemolytic disease can occur in the first pregnancy. |
|
Definition
|
|
Term
| How common is ABO hemolytic disease? |
|
Definition
| 20-25% of pregnancies but usually very mild |
|
|
Term
| At what bilirubin levels do you get kernicterus? |
|
Definition
| >20 mg/dl, or more than 12 mg/dl in prematures |
|
|
Term
| What are the signs/symptoms of hydrops? |
|
Definition
| large placenta and fetus (edema), erythroblastosis (circulating RBC precursors), organomegaly, kernicterus |
|
|
Term
|
Definition
| bilirubin/yellow staining of basal ganglion, thalamus, cerebellum |
|
|
Term
| What are cardiovascular causes of non immune hydrops? |
|
Definition
| structural (premature closure of the forament ovale), functional (arrhythmia) |
|
|
Term
| What are chromosomal causes of non-immune hydrops? |
|
Definition
| trisomies 21 and 18, monosomy x |
|
|
Term
| What do you call non immune hydrops due to monosomy x? |
|
Definition
| cystic hygroma-lymphatic abnormality |
|
|
Term
| What are anemic causes of non-immune hydrops? |
|
Definition
| alpha thalassemia, parvovirus B 19 |
|
|
Term
| What are thoracic causes of non immune fetal hydrops? |
|
Definition
| cystic adenomatoid malformation, diaphragmatic hernia |
|
|
Term
| What are infections causes of non immune fetal hydrops? |
|
Definition
| CMV, syphilis, toxoplasmosis, parvovirus B 19 |
|
|
Term
| T/F Genitourinary tract malformations cause non-immune fetal hydrops. |
|
Definition
|
|
Term
| What enzyme is deficient in phenylketonuria? |
|
Definition
| phenylalanine hydroxylase (can't convert phenylalanine to tyrosine) |
|
|
Term
| What are the symptoms of uncontrolled pheynlketonuria? |
|
Definition
| MR, seizures, decreased pigmentation, eczema |
|
|
Term
| Why must adult women who have phenylketonuria go on phenylalanine diet restriction while pregnant? |
|
Definition
| high levels of pheylalanine are teratogenic (microcephaly and heart defects) |
|
|
Term
| What do you need to convert pheylalanine to tyrosine? |
|
Definition
| pheylalanine hydroxylase in the liver, cofactor tetrahydrobiopterin( BH4), and dihydropteridine reductase |
|
|
Term
| What are the metabolites of phenylalanine? |
|
Definition
| phenylpyruvic acid, phenyllactic acid, phenylacetic acid, O-hydroxyphenylactetic acid |
|
|
Term
| What are the two types of galactosemia? |
|
Definition
missing galactokinase (leads to mild disease)
missing galactose-1-phosphate uridyl transferase |
|
|
Term
| Deficiency in galactose-1phosphate uridyl transfurase causes buildup of what intermediates? |
|
Definition
| buildup of galactose 1 pohsphate and metabolic toxins like galactitol and galactonate |
|
|
Term
| What effects does deficiency in galactose-1-phosphate uridyl transferase have on organs? |
|
Definition
| fatty liver-cirrhosis, eyes (cateracts), brain (nerve loss and gliosis |
|
|
Term
| What are the symptoms of galactosemia once lactose is introduced? |
|
Definition
| vomiting diarrhea, jaundice, hepatomegaly, cateracts, aminoaciduria (kidney tubular defects), more susceptible to sepsis because of depressed neutrophil bactericidal activity |
|
|
Term
| What are the different testing options for diagnosis of galactosemia in a newborn? |
|
Definition
| reducing substances in urine (sugars) and there are also definitive tests in RBCs and leukocytes |
|
|
Term
| How do you perform antenatal diagnosis of galactosemia? |
|
Definition
| cultured fibroblasts, amniotic fluid galactitol |
|
|
Term
| What is the treatment for galactosemia? How successful is it? |
|
Definition
| dietary restriction; prevents liver and eye problems, stil have neurologic problems and premature ovarian failure |
|
|
Term
| Which organ systems are affected by viscid mucous secretions via obstruction and resultant chronic disease? |
|
Definition
| lung, pancreas (insufficiency, malnutrition, steatorrhea), liver (cirrhosis), intestine, and reproductive |
|
|
Term
|
Definition
| when a child with cystic fibrosis fails to pass meconium because their colonic secretions in utero were so viscous that it impacted the meconium |
|
|
Term
| Are heterozygotes for CF unaffected? |
|
Definition
| pretty much; they may have respiratory and pancreatic disease |
|
|
Term
| What does CFTR gene stand for and where is it located? |
|
Definition
| CFTR= cystic fibrosis transmembrane conductance regulator gene (7q31.2) |
|
|
Term
| Describe the purpose of CFTR in the lungs, pancreas, and liver? |
|
Definition
| activation of CFTR increases Cl outward secretion and inhibits NA resoprtion |
|
|
Term
| What is the function of CFTR in the sweat? |
|
Definition
| Cl excretion decreases and Na resorption increaes in response to CFTR activation |
|
|
Term
| Waht is the pathology of CF in the respiratory and GI tract? |
|
Definition
| less chloride secretion, more Na absorption. This increases passive water absorption decreasing water content of the surface fluid layer coating mucosal cells. No difference in salt concentration over surface but decreased isotonic surface fluid layer. |
|
|
Term
| Whati s the pathology of CF in the pancreas? |
|
Definition
| decreased secretion of HCO3; secretions are acidic causing increased mucin precipitation, duct plugging, enhances bacteria binding to mucin, pancreatic exocrine insufficiency. Chloride transport may be preserved in this mutation. |
|
|
Term
| What is class I cystic fibrosis? |
|
Definition
| defective protein synthesis; lack of CFTR at surface |
|
|
Term
| What is class II cystic fibrosis? |
|
Definition
| abnormal protein folding, processing and trafficking; lack fo CFTR at surface |
|
|
Term
| What is the most common CF mutation? |
|
Definition
| calss II: delta F508 is the most common 70% |
|
|
Term
|
Definition
| defective regulation: CFTR present on surface but non-functional |
|
|
Term
|
Definition
| decreased conductance:CFTR present on surface with reduced function, milder phenotype |
|
|
Term
|
Definition
| reduced abundance defect in transcription of CFTR, function normal |
|
|
Term
|
Definition
| altered regulation of seperate ion channels |
|
|
Term
| What are the symptoms of CF classes I- III? |
|
Definition
| severe disease (pancreatic insufficiency, GI, pulmonary) |
|
|
Term
| What are the symptoms of CF class IV-V like? |
|
Definition
| mild; combo of mild gene with severe gene will lessen the severity |
|
|
Term
| The best phenotype/genotype correlation for CF is with... |
|
Definition
|
|
Term
| What is atypical cystic fibrosis? |
|
Definition
| late onset chronic pulmonary disease; idiopathic pancreatitis; idiopathic bronchiectasis; obstructive azospermia |
|
|
Term
| What genetic modifier can cause more severe lung and liver disease with cirrhosis in CF patients? |
|
Definition
| mannose binding lectin 2: innate immunity opsonization for phagocytosis. Polymorphisms with decreased protein |
|
|
Term
| What effect does a genetically modified transforming growth factor B1 have on a CF patient? |
|
Definition
| polymorphisms, inhibitor of CFTR, severe lung disease |
|
|
Term
| What are environmental modifiers for CF/ |
|
Definition
| static mucus, hypoxic airway surface fluid, promotes alginate mucopolysaccharide capsule in pseudomonas aeruginosa, protective biofilm, inflammation only destroys lungs, resistance to antibiotics |
|
|
Term
| What is the gross morphology of CF lungs? |
|
Definition
| bronchioles plugged with mucin, mucus cell hyperplasia, bronchitis, bronchiectasis, abscesses, infections |
|
|
Term
| What infections are typical of CF lungs? |
|
Definition
| staph aureus, hemophilus influenzaue, pseudomonas aeruginosa, bukolderia cenocepacia |
|
|
Term
| What is the morphology of CF pancreas? |
|
Definition
| dilated ducts, exocrine atrophy |
|
|
Term
| What causes liver cirrhosis of CF patients? |
|
Definition
| bile duct plugging; biliary cirrhosis |
|
|
Term
| Why are male CF patients infertile? |
|
Definition
| bilateral absence of the vas deferens |
|
|
Term
| What finger abnormality is associated with CF? |
|
Definition
|
|
Term
| How do you treat cystic fibrosis? |
|
Definition
| supportive lung therapy, enzyme replacement, transplants, gene therapy |
|
|
Term
|
Definition
| sudden and unexpected death in an infant <1 yoa which remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of the clinical history |
|
|
Term
| What is the leading cause of death of infants from 1 month to 1 year? |
|
Definition
|
|
Term
| At what age do SIDS incidence peak? |
|
Definition
|
|
Term
| What event often precedes SIDS? |
|
Definition
| minor upper airway infection |
|
|
Term
| What's ALTE and its connection to SIDS? |
|
Definition
| ATLE= apparent life-threatening event and there is no connection with SIDS. Different risk factors, ages, etc. |
|
|
Term
| What is the triple risk model of sids? |
|
Definition
| vulnerable infant, critical developmental period in homeostatic control, exogenous stressor |
|
|
Term
| What do they think causes SIDS? |
|
Definition
| delayed development of arousal and cardiorespiratory control of the arcuate nucleus |
|
|
Term
| What are the parental risk factors for SIDS? |
|
Definition
| young maternal age (<20), maternal smoking during pregnancy, drug abuse in either parent,short intergestational intervals, late or no prenatal care, low socioeconomic group, african-american and american indian |
|
|
Term
| What are the infant risk factors for SIDS? |
|
Definition
| brain stem abnormalities, prematurity/SGA, male sex, multiple births, SIDS in a prior sibling, antecedent respiratory infections, germline polymorphisms in ANS genes |
|
|
Term
| What are environmental causes of SIDS? |
|
Definition
| prone or side sleep position, sleeping on a soft surface, hyperthermia, co-sleeping in first 3 months of life |
|
|
Term
| What infections are associated with SIDS? |
|
Definition
| viral myocarditis and bronchopneumonia |
|
|
Term
| What unsuspected congenital anomalies are associated with SIDS? |
|
Definition
| congenital aortic stenosis, anomalous origin of the left coronary artery from the pulmonary artery |
|
|
Term
| What genetic and metabolic defects are associated with SIDS? |
|
Definition
| long QT syndrome, fatty acid oxidation disorders, histiocytoid cardiomyopathy, abnormal inflammatory responsiveness |
|
|
Term
| What are common autopsy findings of SIDS? |
|
Definition
| petechiae over thoracic organs, minor inflammatory changes not sufficient to cause death, CNS gliosis, hypoplasia of arcuate nucleus |
|
|
Term
|
Definition
| normal cells or tissues in abnormal locations |
|
|
Term
| What is the most common tumor of infancy? |
|
Definition
| hemangioma, more cellular and associated with other syndromes. Can involve skin and internal organs, may spontaneously regress |
|
|
Term
|
Definition
| benign tumor that can grow and encroach on vital surfaces |
|
|
Term
| Is hemangioma benign or malignant? |
|
Definition
|
|
Term
| Name fibrous tumors of infancy? |
|
Definition
| fibromatosis, infantile fibrosarcoma, and myofibroma |
|
|
Term
| What are the different types of teratomas? |
|
Definition
| benign mature cystic, immature and malignant |
|
|
Term
| What types of cells are in malignant teratomas? |
|
Definition
|
|
Term
| At what age do teratomas usually occur? |
|
Definition
| peak at 2 years and again in early adulthood |
|
|
Term
| Where are teratomas generally found? |
|
Definition
| gonads, sacrococcygeal, midline-medistinum |
|
|
Term
| What are the common types of malignant tumors in children? |
|
Definition
| hematopoietic, nervous, soft tissue, bone, kidney |
|
|
Term
| Malignant tumors are associated with.. |
|
Definition
| abnormal development, familial or genetic aberrations, regression or differentiation, improved survival now has challenges of minimalization of adverse affects of therapy |
|
|
Term
| What is the most common extra cranial solid tissue malignancy in childhood? |
|
Definition
|
|
Term
| Where do pediatric neuroblastomas generally occur? |
|
Definition
| sympathetic ganglion or adrenal medulla |
|
|
Term
| How do you treat pediatric neuroblastoma? |
|
Definition
| can differentiate spontaneously or with therapy |
|
|
Term
| What percent of neuroblastoma is familial? |
|
Definition
|
|
Term
|
Definition
| anaplastic lymphoma kinase gene. Gain of function in the germline mutation. |
|
|
Term
| Somatic gain of function in neuroblastomas is generally found in _____ neuroblastomas. |
|
Definition
|
|
Term
| What are the histological features of neuroblastoma? |
|
Definition
| undifferentiated blastematous cells, neutrophil, rosettes, ganglion cells, schwannian stroma, neuroblastoma, ganglioneuroblastoma, ganglioneuroma |
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Term
| Where do neuroblastomas metastasize? |
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Definition
| bone marrow, skin (blueberry muffin babies, raccoon eyes) |
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Term
| What do neuroblastomas produce? |
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Definition
| produce catecholamines (vanillylmandelic acid-VMA, homovanillic acid-HVA) |
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Term
| What are good prognostic factors for neuroblastomas? |
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Definition
| <18 months, lower stage, favorable histology, hyperploidy/near triploidy, tyrosine kinase receptor A (TRK-A) expression- induces terminal neuronal differentiation |
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Term
| What is favorable histology for neuroblastoma? |
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Definition
| schwannian stroma, ganglionic differentiation, lower mitosis/karyorrhexis index |
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Term
| What are poor prognostic factors for neuroblastoma? |
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Definition
| amplificationo f N-myc oncogene, TRKB expression, near diploid, un or poorly differentiated, partial gain of 17q, loss of 1p-correlates with N-myc amplification, loss of 11q, telomerase expression increased |
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Term
| What is the risk for an infant with stage 1,2, or 4s neuroblastoma, hyperdiploid, high TRK-A, absence of N-myc ampflication, 17q gain and 1p deletion? |
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Definition
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Term
| How do you screen for neuroblastoma? |
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Definition
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Term
| What age is common for wilms tumor? |
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Definition
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Term
| What type of cancer is a wilms tumor? |
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Definition
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Term
| What percent of wilms tumors are bilateral? |
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Definition
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Term
| What percent of wilms tumors are syndromic? |
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Definition
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Term
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Definition
| aniridia, genital, MR; 33% chance of wilms tumor; deletionof 11p13 (germline), WT1 gene (inactivation)- PAX6- aniridia |
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Term
| What is Denys-Drash syndrome? |
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Definition
| gonadal dysgenesis, diffuse glomerular mesangial sclerosis, GU malformation (male pseudohmeraphroditism), WT1 dominant negative missense mutation-effects other WT1 gene. Tumors require bi-allelic iactivation; wilms, gonadoblastoma |
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Term
| What is the phenotype of beckwith-Wiedemann? |
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Definition
| organomegaly, hemihypertrophy, other tumors (Wilms tumor) |
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Term
| What is the genetic mutation of Beckwith Weideman? |
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Definition
| 11p15.5 WT2 insulin-like growth factor-2 Caused by loss of imprinting (methylation of maternal allele-promoter area), uniparental disomy, both lead to overexpression of IGF2 |
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Term
| What is nephrogenic rests? |
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Definition
| precursor lesion to wilms tumor |
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Term
| Are nephrogenic rests seen in wilms tumors? |
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Definition
| 25-40% of unilateral, all bilateral |
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Term
| T/F All nephrogenic rests progress to wilms tumor. |
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Definition
| false, can involute or progress |
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Term
| What is the histology of wilms tumor? |
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Definition
| blastematous (undifferentiated), epithelial (tubules), mesenchymal (skeletal muscle) |
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Term
| What is the prognosis of wilms tumor? |
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Definition
| excellent but increased risk of second malignancy. Want to minimize therapy |
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Term
| What are the characteristics of an immature brain? |
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Definition
| poor myelination, poor control of temperature, vasomotor control, respiration, muscle, and feeble sweating |
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