1
Q
What condition is assaocited with HomerWright pseudorossettes in tumor cells centralled around a central space
A
Neuroblastomas
2
Q
What is the process of CFTR activation
A
- increased cAMP, followed by activation of PKA
- PKA phosphorylates R domain
- ATP binds to NBD domain and regulates opening/closing of channels in response to cAMP
3
Q
What is the result of valproic acid and what is the mechanism of damage
A
Taken as antiepileptic, blocks the HOX gene (homeobox) that are used for the patterning of limbs
4
Q
What is the role of surfactant SP-C and B
A
Hydrophobic substance to reduce surface tension on lungs
5
Q
Necrotizing enterocolitis is most common in which patients
A
Premature infants and decreased risk with increased maturity
6
Q
What are the mutations in SFTPB and SFTBC genes
A
Defects in the production of surfactant
7
Q
What are disruptions
A
Secondary disruptions of organ or body that was normal in development, aka extrinsic disturbance in morphogenesis
8
Q
What is class 6 CF
A
Altered function in regulation of ion channels such as bicarbonate to maintain lumen pH
9
Q
What are the major risk factors leading the prematurity
A
- Preterm premature rupture of placental membranes (PPROM)
- Intrauterine infection
- Uterine, cervical, and placental structural abnormalities
10
Q
What is the association of Beta-catenin and Wilms
A
Mutations in Beta-catenin can cause increase in sporadic Wilms tumors
11
Q
Which factor has been implicated with necrotizing entercolitis through which mechanism
A
-platelet activating factor (PAF), which increases mucus permeability by promoting enteocyte apoptosis, compromising the tight junctions
12
Q
What are the major causes of death in the first 12 months of life
A
Congenital anomalies, disorders relegated to premature, low birth weight, SIDS
13
Q
With regards to Neurobplastoma, what is the postive prognosis with regards to the factor mutations of neuritogenesis gene
A
Absent
14
Q
Which 3 congenital groups have a higher association with Wilms tumor
A
- WAGR syndrome
- Denys-drash Syndrome
- Beckwith-Wiedermann Syndrome
15
Q
How can Cardiac abnormalities result in hydrops fetalis
A
They result in arrhythmias and cardiac failure with blood pooling
16
Q
What is the role of surfactant SP-A and D
A
I ate immune defenses
17
Q
Which gene products are messed up in Denys-drash syndrome
A
WT1 (dominant negative missense mutation) with the zinc finger region (biallelic inactivation)
18
Q
Wha is anaplasia in a Wilms tumor associated with
A
TP53 mutations and resistance to chemotherapy
19
Q
What is the clinical consequences of mother antibody lysis of fetal RBCs
A
- liver injury leading to lack of plasma proteins, causing anemia and anascara and hydrops fetalis
- bilirubin passes through BBB and allows binding to lipids, causing kernicterus
20
Q
What is the most common extracranial solid tumor of childhood and how often is it diagnosed
A
Neuroblastoma is the most common and the most frequently diagnosed at infancy
21
Q
What is the liver involvement in CF patients
A
- hepatic steatosis due to black age of the bile ducts
- focal biliary cirrhosis
22
Q
What are the important diagnostic urine compounds in neuroblastomas
A
Vanillylmandelic acid [VMA]
Homovanillic acid [HVA]
23
Q
What is a heterotopia or choristoma
A
Microscopically normal cell in an abnormal location
24
Q
What are the morphological changes seen in hydrops
A
Fetus and placenta are pale, with liver and spleen enlargement
- bone marrow shows hyperplasia of Erythrocyte precursors and hematopoiesis
- large number of circulating immature RBCs including reticulocytes, erythroblasts (aka erythroblastosis fetalis)
- kernicterus
25
Of the WT2 gene in BWS, which imprinting molecules can work and which has the largest impact
Insulin like growth factor 2(IGF2) normally paternally only, but could have maternal expressed as well leading to excess.
26
In the fetal period (week 9 to birth) what is the fetus susceptible to
Growth retardation and organ injury
27
What is the state of the color of skin in neuroblastomas
Deep blue discoloration of skin, leading to the blueberry muffin baby
28
What are the most commonly seen organisms causing intrauterine infections
- ureaplasma urealyticum
- mycoplasma hominis
- gardnerella vaginalis (bacterial vaginalis)
- trichomonas
- gonorrhea
- Chlamydia
29
What is class 3 CF
Defective regulation prevent the binding of ATP and hydrolysis, so there is a normal number at the surface but is nonfunctioning
30
Which form of policy is assoacited with a good prognosis in neuroblastomas
Hyperdiploid (whole chromosome gains)
31
As a family, neuroblastoma contain characteristic features such as
Spontaneous or therapy induced differentiation of primative neuroblasts into mature elements and spontaneous regression,
32
What is the time frame for PROM
After 37 weeks, where the risk to fetus is decreased
33
What is the importance of PKU mothers who are trying to get pregnant
Restriction of Phe before conception and during pregnancy
34
What is stage 2 for neuroblastoma
Localized tumor with incomplete gross resection, ipsalateral nonadherent LN negative for tumor
35
Most bacterial infections are acquired through which route
Transcervical (ascending) route (cervicovaginal route)
36
Parvovirus B19 is assoacited with which condition and changes in fetuses
Erythema infectiosum (fifth disease of childhood), which infects Erythrocyte cells of bone marrow with viral inclusions with large nuclei and peripheral rim of residual chromatin
37
The presence of a schwannian stroma is assaocited with which prognosis
Favorable
38
What is class 1 CF
Defective protein synthesis and lack at the surface
39
What is stage 4S in neuroblastoma
Localized primary tumor with dissemination limited to skin, liver, and bone marrow
Restricted to infants <1 year
40
Which weeks is the start where there are only physiological and minor morphological abnormalities
Starting week 8
41
Which gene is the major cause of familial predisposition to neuroblastomas
Germline mutations in Anaplastic lymphoma kinase (ALK)
42
What is the definition of fetal abnormalities
Intrinsically reduce growth potential of the fetus despite being adequate nutrition
43
What are the common causes of decreased placental blood flow
Vascular diseases such as Preeclampsia and chronic hypertension
-Thrombophilias such as Antiohospholoid syndrome and hypercoagubility states
44
What are the histological characteristics of malignant non-hematopoietic pediatric neoplasms
More primitive (embryonic) undifferentiated,small, round nuclei, and are named blastomas (aka small round blue cell tumors)
45
Congenital infantile fibrosarcomas are unique in which fusion product and can be used for diagnostic purposes
ETV6-NTRK3
46
The TORCH group of infections present with which features
Fever, encephalitis, chorioretinitis, hepatosplenomegaly, pneumonitis, myocarditis, hemolytic anemia, hemorrhagic skin lesions
47
In most CF cases, what is the state of the pancreas and what can it lead to
-Mostly involved, with loss of exocrine glands, leading to loss of fat absorption leading to decreased vitamin A and subsequent formation of squamous cell metaplasia in pancreatic ducts
48
What are the 4 things seen with WAGR syndrome
Wilms tumor
Aniridia
Genital anomalies
Retardation (mental)
49
What is synchondonous tumors
Involving both kidneys at the same time
50
In childhood neuroblastomas, where is the majority arising from
Adrenal medulla
51
What is necrotizing enterocolitis associated with
Enteral feeding, so may involved some sort of bacteria
52
What percentage of PKU females give birth to mentally disabled children and what is the reasoning
75 to 90% are mentally slow and microcephaly, due to maternal PKU, which causes increased Phe and metabolites which are toxic as they cross the placenta
53
What are the most important determinants of outcome for neuroblastomas
Age and stage
54
What are mecachronous tumors
Infects kidneys one after another
55
Why are near ploidy neuroblastomas assoacited with a less favorable outcome
They are considered to have genomic instability, leading to chromothriposis, which can lead to MYCN amplification
56
What is agenesis
Complete absence of an organ and its primordium
57
What is usually seen in an infection of the fetus
-inflammation of the placental membranes and cord
58
What is stage 1 for neuroblastoma
Localized tumor with complete gross excision, ipslateral nonadherent LN negative for tumor
59
Premature birth due to transcervical infection occurs because
Damage and rupture of the amniotic sac due to direct inflammation or production of prostaglandins
60
How do most parasitic and viral infections infect a fetus
Transplacentally via the chorionic villi
61
What is stage 4 for neuroblastoma
Any primary tumor with dissemination to distant LN, bone, bone marrow, liver, skin
62
Surfactant sysnthesis in utero is inhibited by what
-Compensatory high blood levels of insulin in diabetic mothers, counteracting effects of steroids. C-section is also associated with increased risk of RDS
63
What are the common factors leading to RDS
Preterm, but normal weight for age, male, maternal diabetes, and C-section
64
What tumors are patients with BWS at higher risk for
- Wilms tumor
- Hepatoblastoma
- pacreatoblastoma
- adrenocortical tumors
- rhabdomyosarcomas
65
What is the other very minor cause of PKU and why is it important to clinically find out this mutation
2% show abnormalities in synthesis or recycling of cofactor tetrahydrobiopterin BH4, which can not be treated with restrictions of Phe
66
With regards to Neurobplastoma, what is the postive prognosis with regards to the factor MYCN
Non amplified
67
What is the clinical presentation of necrotizing gastrocolitis
Bloody stool, abdominal distention, circulatory collapse, pneumatosis intestinalis
68
Which RDS newborns are never seen with hyaline membranes
Stillborn
69
Which factors are associated with a poor diagnosis of Wilms tumor
Loss of material on chromosome 11q and 16q, gain of chromosome 1q
70
What is the bicarbonate exchanger that is present in CF and normal lung patients
SLC26 on the apical surface of CFTR
71
What happens when some mother contain IgG blood antibodies
It will cross the placenta, but the lysis is minimal. There is no treatment for this incompatibility
72
What is aplasia
Lack of the organ due to lack of growth from the present primordium
73
What are the common causes of uteroplacental insufficiency
Umbilical-placental vascular anomalies (placental hemangioma), placental disruption, placenta previa, placental thrombosis and infarction, placental infection ad multiple gestations
74
What are the clinical presentations of PKU
Severe mental retardation, seizures, decreased pigmentation of hair and skin, eczema
75
What type of FGR is present due to infections
Proportionate FGR, with symmetric growth restriction where all organ systems are similarly affected
76
What is occurring in patients who have an intact CFTR but have a mutated bicarbonate exchanger
-Acidic secretions due to lack of bicarb results in decreased lumenal pH that increases mucin precipitation, and plugging ducts with increased binding of bacteria
77
What is secreted in a large amount of neuroblastomas and what percentage
90% secrete catecholamines
78
With regards to Neurobplastoma, what is the postive prognosis with regards to the factor TRKB expression
Absent
79
What is the result of PKU patients having the PAH deficiency
Not able to convert Phe to tyrosine
80
What are nephrogenic rests and what are the associated with
Precursor lesion of Wilms tumor and are associated with 100% of bilateral Wilms tumors
81
Polydactyly and syndactyly (fused finders) are what type of morphogenesis
Malformation
82
How do most children with Wilms tumor present
- Large abdominal mass or may cross the midline
| - mematuria, pain in abdomen after trauma, intestinal obstruction, hypertension
83
How does maternal diabetes lead to congenital malformations
Maternal hyperglycemia induced fetal hyperinsulinemia and macrosemia(organomegaly, increased fat and muscle mass), cardiac defects, neural tube defects, and CNS malformations
84
Prematurity can give rise to what
- Neonatal Respiratory distress aka hyaline distress syndrome
- Necrotizing entecolitis
- sepsis
- intraventricular and germinal matrix hemorrhage
85
In CF patients, what is the mechanism that airways get dehydrated
Chloride is unable to leave through the CFTR, leading to the influx of sodium via Enac. Water follows the concentration gradient and mucus becomes dehydrated
86
What is the age and weight risk with SIDS
```
Low birth rate at increased risk
Younger age increases risk
Males higher risk
Maternal smoking and drug use increase risk
Previous infection increases risk
Laying prone or side sleeping
```
87
Which enzyme deficiency is more common cause of galactosemia
Total lack of galactose-1-phosphate uridyl transferase (GALT) which now leads to high levels of galactose-1-phosphate
88
What are the products that build up during galactosemia
Galactitol and galactonate
89
How is ENaC activity related to a dysfunctional CFTR
Mutated CFTR fails to inhibit ENaC, so there is an increased sodium reuptake across the apical membrane
90
What condition is the cause of amnion nodosum
Aka nodules in the amnion, is caused by Oligohydramnios
91
What is the mechanism that organisms can induce premature labor
TLR binding causes the release of prostaglandins that can stimulate the smooth muscle contractions
92
Which condition is very commonly seen in patients with abnormal bicarb conductance
Pancreatic insufficiency
93
What is the most common factor leading to deformations
Uterine constraint seen between week 35 and 38 where there is rapid growth of the fetus
94
With regards to Neurobplastoma, what is the postive prognosis with regards to the factor chromosome 1p
Still present
95
What symptoms can be seen in neuroblastomas
Proptosis and ecchymosis due to periorbital edema as it is a common site of metastasis
96
What is the risk of Wilms tumor in those with Denys-Drash syndrome
90% have Wilms
97
What is the most common factors associated with SGA resulting from
Decreased blood flow to placenta
98
Neuroblastomas tend to spread via the bloodstream to which locations
Liver, lungs, bone marrow, and bones
99
What is a hamartoma
Excessive,focal overgrowth of cells and tissues native to the organ in which it occurs
100
What are the examples of chemical that can cause congenital malformation
-thalidomide, alcohol, anticonvulsants, warfarin, 13-cis-retinoic acid
101
Recurrent sinonasal polyps should be tested for which disease
CF
102
When is idiopathic chronic pancreatitis seen
An isolated late finding during the absence of other symptoms for CF
103
During the dangerous 3 to 9 weeks in gestation, what are the source of organs
Germ cell layers
104
What is stage 3 for neuroblastoma
Unreserved unilateral tumor infiltrating across midline or localized unilateral tumor with contralateral regional LN
105
What gene and chromosome location causes CF
CTFR gene on 7q31.2
106
What is Denys-drash syndrome clinically present with
- Gonadal dysgenesis (male pseudohermaphrodism)
- early onset neuropathy (renal failure)
- Diffuse mesangial sclerosis in glomerular lesion
107
Patients with mutations in CDKN1C have which disease and are assoiated with which risks
CDKN1C aka p57 aka KIP2 have beckwith-Wiedermann syndrome, but are at a decreased risk for Wilms tumor
108
What is a malformation syndrome and what is the common cause
Constellation of congentical anomalies caused by a single etiological agents such as a viral infection or chromosomal abnormalities that affects several tissues
109
In those galactosemia patients that survive to adulthood, what are effects seen at old age
Speech disorder, gonadal failure (especially ovarian failure) and ataxia
110
Why are ABO incompatibles not normally leading to clinical manifested conditions
- Most blood antibodies are IgM, so they do not cross the placenta
- neonatal fetal RBCs express only low levels of antigens
- many cells other than RBCs express blood antigen so they absorb the Abs
111
How does the fetus acquire an infections that has been obtained by transcervical route
Inhaling infected amniotic fluid into the lungs shortly before birth or passing through an infected birth canal during delivery
112
What type of alveolar cells produces surfactant and which week does it begin
Type 2 and week 35
113
Denys-drash are also atrisk of developing which germ line cell cancer
Gonadoblastomas
114
Patients who recover from RDS are more likely to develop which syndromes
Patent ductus arteriosus, intraventricular hemorrhage, and necrotizing entercolitis
115
What is the most common cause of early onset penis and bacterial meningitis
Group B streptococcus
116
What is the effect of O mother with A or B fetus
Higher risk of hemolytic lysis, but even the effect is minimal
117
What are the common causes of oligohydramnios, aka Potter sequence
- chronic leakage of amniotic fluid/rupture of amnion
- uteroplacental insufficiency (due to maternal hypertension or toxemia
- renal agensis in the fetus
118
What is the most common cause of nonimmune hydrops
Fetal anemia due to homozygous alpha thalassemia from the deletion of all 4 alpha globin genes
119
What are maternal conditions that may cause congenital malformations
-Diabetes, PKU, endocrinopathies
120
What are the clinical presentations seen in galactosemia
- Hepatomegaly with a fatty change and cirrhosis resembling alcohol abuse
- opacification of the lens (cataracts), within first year
- Loss of nerve cells, edema in dentate nucleus and medullary olives
- Vomiting and diarrhea with milk ingestion
- Jaundice and hepatomegaly within first week
- aminoaciduria (accumulation of galactose-1-P impairs kidney
121
What are the most common causes of SUID
Infections, such as viral myocarditis and bronchopneumonia
122
In CF, what is the mechanism of the characteristic sweat
Hypertonic salty sweat due to mutations in CFTR, leading to lack of reabsorbance of sodium and chloride
123
What is the prognosis of most patients with Wilms tumor
Most cured of malignancy, but at risk of developing second primary tumors of bone, sarcomas, leukemia, and lymphomas
124
What is the heritability of disruptions
They are not heritable and are not associated with risk in subsequent pregnancies
125
What is class 2 CF
Abnormal folding, processing, and trafficking of CFTR and gets degraded, so there are none at the apical surface. Most common form and is the Phe508
126
What is immune hydrops fetalis and what is it caused by
Rh blood incompatibility and edema of the fetus
127
What are examples of disruptions
Amniotic band syndrome, as well as environmental events
128
What types of neuroblastomas are commonly reported
In situ
129
What is fetal hydrops
Accumulation of edema fluid in the fetus during intrauterine growth
130
Neuroblastoma tumors include what structures of origin
-neural crest cells in the sympathetic ganglia and adrenal medulla
131
Immune hydrops is commonly caused by what
Antibodies and type 2 mediated reaction
132
What is Beckwith-Wiedermann syndrome (BWS) clinically present as
Enlargement of body organs (organomegaly), macroglossia, hemihypertrophy, omphalocele, large cells in adrenal cortex (adrenomegaly)
133
What are examples of multifactorial inheritance
Cleft lip, palate and neural tube defects
134
What is the most common primary renal tumor of childhood
Wilms tumor
135
What happens in patients have have a normal WT1 but a mutated PAX6
Sporadic aniridia, but not at an increased risk for Wilms
136
What is required to be labeled a ganglioneuroma
Large cells resembling mature ganglion cells with few neuroblasts along with the appearance of Schwann cells (prerequisite for naming ganglioneuroblastoma)
137
Which weeks in embryonic period is the fetus not susceptible to teratogens
Weeks 1 and 2
138
What are the commonly seen malformations
Congenital heart defects and anencephaly
139
Where are the minority of neuroblastomas arising from
Along the sympathetic chain in the posterior mediastinum and abdomen
140
What are deformations caused by
Extrinsic disturbances and are generally due to abnormal biomechanical forces
141
Why type of FGR are seen in placental abnormalities
Asymmetric growth of the fetus with sparing of the brain
142
What is the most common form of inborn error of metabolism and which population is at a higher risk
PKU and it is higher in Scandinavian decent, uncommon in blacks and Jewish
143
What is the condition cystic hygroma
Edema leading to fluid accumulation in the neck area in the fetus
144
What commonly kills fetuses infected by inhaled infected amniotic fluid
Pneumonia, sepsis, and meningitis
145
What are the physical appearances of hemangiomas
-elevated, irregular, red-blue masses and are refered to as port-wine stains
146
IN SIDS patients, what is commonly found morphologically
Multiple petechiae of the thymus, visceral, and parietal pleura, congested lungs, astrogliosis,
147
What are the major abnormalities seen in bronchopulmonary dysplasia
Decrease in alveolar septation (large simplified alveolar structures) and dysmorphic capillary configuration caused by hyperoxemia, hyperventilation, prematurity, inflammation cytokines and vascular maldevelopment
148
What are the risk factors for PPROM
- prior history of preterm birth
- preterm labor
- vaginal bleeding
- maternal smoking
- low nutrition or social economical status
149
What is the overall result of galactosemia and what is the inheritance pattern
Accumulation of galactose-1-phosphate in tissues and is autosomal recessive
150
In normally functioning CFTR, how is ENaC affected
CFTR inhibits ENaC, blocking sodium reuptake across the apical membrane
151
What are the morphological characteristics of Wilms tumors
- recapitulate different stages of nephrogensis
| - triphasic combination of blastemal, stromal, and epithelial cell types
152
Where is the chromosomal abnormality located in Beckwith-Wiedemann syndrome
11p15.5 (WT2)
153
What is class 4 CF
Decreased conductance, so there is a normal number at the apical surface, but a decreased effectiveness
154
What testing mechanism provides a good indication on the development stage of the lungs
Amniotic fluid phospholipid levels
155
What is the most common cause of respiratory distress in newborns
Respiratory distress syndrome (RDS) aka hyaline membrane disease
156
What condition is commonly associated with an infection by B. Cenocepacia and in which patients
Fulminant illness, known as capacity syndrome in CF pts
157
Where are hemangiomas likely to form
Scalp and face
158
What are lymphangiomas characterized by
Cystic and cavernous spaces
159
What is the most common development defect in human midface and forebrain
Holoprosencephaly (usually due to disruption in Shh signaling)
160
When is the peak incidence of Wilms tumor
Between 2 to 5 years , 95% before 10
161
With regards to Neurobplastoma, what is the postive prognosis with regards to the factor chromosome 11q
Still present
162
What are lymphangiectasis
Diffuse swelling of part or all of extremity as a result of the sponge outs lympatics. They do not grow outside of their boundary though
163
PKU is defined as a deficiency in which enzyme and what is the everall result
Phenylalanine hydroxylase (PAH) resulting in hyperphenylalaninemia
164
What are malformations
Primary errors in morphogensis, in which there is a intrinsically abnormal developmental process, most commonly multifactorial
165
What is the condition of benign hyperphenylalaninemia
Only moderate increased levels of Phe without the associated neuro damage
166
What are the clinical presentations usually seen with a newborn with RDS following birth
Resuscitation is sometimes needed, but color returns. Then 30 minutes later, becomes cyanotic, fine rales are heard bilaterally, and minute reticulogranular densities are seen (ground glass picture)
167
Where are lymphangiomas commonly occuring
Deep regions of the neck, Axilla, mediastinum retroperitoneal tissue
168
Hemangiomas are associated with which familiar gene and resemble which hereditary disorder
Von Hippel-Lindau
| -CNS cavernous hemangioas, with familial mutations in cerebral cavernous malformations (CCM) genes
169
What is the leading cause of death between the ages of 1 month and 1 year
SIDS
170
In CF patients, what is produced by the invading bacteria
Alginate, aka mucous polysaccharide capsule
171
Which neuroblastoma stages tend to be favorable prognosis
1, 2A, 2B
172
Patients with galactosemia are prone to which organisms
E.Coli septacemia
173
How can the ALK neuroblastomas be targeted for treatment
Small molecule inhibitory that target the activity of the kinase
174
Which condition is associated with cystic hygroma
Turner syndrome
175
What is the result of cyclopamine in plants and what is the mechanism
-Caused holoprosencephaly and cyclopenia due to disruptions in Shh signalling (hence the holoprosencephaly involvment)
176
When are the two higher periods of teratomas
- Age 2 (congenital neoplasm)
| - late adolescence (prenatal but slower growing)
177
When are most cases of perinatal sepsis aquired and what is the general clinical presentation
At or shortly after birth with pneumonia, sepsis, meningitis writhing 4 to 5 days of life
178
What is a major cause of preterm labor with or without intact membranes
Intrauterine infections
179
Most neuroblastomas occur in which fashion
Sporadically
180
What is the exception to ENaC and CFTR with regards to mutations and amount of chloride and sodium being moved
Most of the time in CF, the sodium and chloride stay in the cell, however, in sweat glands, the sodium and chloride are not brought into the cell and are excreted in sweat
181
What is the time frame for PPROM
Before 37 weeks, leading to the addition of preterm
182
How do lymphangiomas cause clinical issues
They are grow in size over time due to the accumulation of fluids. This can cause encroachment of vital structures such as nerve trunks in Axilla and mediastinum
183
What are the prominent fetal abnormalities
- Chromosomal disorders
- congenital abnormalities
- congentical infections
184
What are the physiological effects of oligohydramnios
-flattened facies, abnormal hands and feet, hypoplastic lungs, and amnion nodosum
185
What are the consequences of hemolysis of fetal RBCs via maternal antibodies
-Anemia due to RBC loss
| Jaundice due to RBC breakdown and unconjugated bilirubin
186
What are the three risk model in SIDS
- Vulnerable infant
- critical development period in homeostatic control
- exogenous stressor
187
What are the most common teratomas of childhood
Sacrococcygeal teratoma
188
The presence of alpha thalassemia/mental retardation X linked (ATRX) and protein tyrosine phosphatase receptor type D (PTPRD) are associated with what in neuroblastomas
More aggressive and higher stages
189
What is the most common tumor of infancy
Hemangioma
190
With regards to Neurobplastoma, what is the postive prognosis with regards to the factor TRKA expression
Present
191
What is the difference between CF patients and normal patients with regards to salt concentration of surface fluid layers coating the respiratory and intestinal tracts
They are the same concentrations, the issue stems from isotonic but low volume surface fluid layer (aka dehydration)
192
What is atresia
Absence of an opening, usually of a hollow organ or intestine
193
When are placental abnormalities seen
Third trimester of pregnancy where there is rapid fetal growth, where uteroplacental insufficiency is the major cause of growth restriction
194
What is the result of pregnant use of vitamin A derivatives and what is the mechanism of action
-CNS, cardiac and craniofacial defects, such as cleft lip, cleft palate due to deregulation of TGFbeta pathway
195
Which two genes are located on 11p13 are affected in WAGR
WT-1
| PAX6 (autosomal dominant for aniridia)
196
What are the three causes of nonimmune hydrops
CV defects, chromosomal abnormalities, fetal anemia
197
What condition is the chromosomal translocation t(12;15)(p13;q25) been described in
Congenital infantile fribrosarcoma
198
Patients with WAGR carry which germline deletion
11p13
199
What conditions are associated with treatment of RDS
High concentration ventilator oxygen leads to retrolental fibroplasia in eyes, and bronchopulmonary dysplasia
200
What is class 5 CF
Reduced abundance due to intronic splice sites on CFTR promoter gene region, so there is a reduced number of functional proteins
201
What are the TORCH infections most associated with GFR
Toxoplasmosis
Rubella
CCMV
Herpesvirus
202
What factors increases the risk of deformations
First pregnancy, small uterus, malformed (bicoruate) uterus, leiomyomas, oligohydramnios, multiple fetuses, abnormal fetal presentation
Robbins Pathology MOD2 (Chptr 7-10)
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