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Robbins Pathology MOD2 (Chptr 7-10) > Chapter 10 > Flashcards

Chapter 10 Flashcards

1
Q

What condition is assaocited with HomerWright pseudorossettes in tumor cells centralled around a central space

A

Neuroblastomas

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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
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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

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4
Q

What is the role of surfactant SP-C and B

A

Hydrophobic substance to reduce surface tension on lungs

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5
Q

Necrotizing enterocolitis is most common in which patients

A

Premature infants and decreased risk with increased maturity

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6
Q

What are the mutations in SFTPB and SFTBC genes

A

Defects in the production of surfactant

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7
Q

What are disruptions

A

Secondary disruptions of organ or body that was normal in development, aka extrinsic disturbance in morphogenesis

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8
Q

What is class 6 CF

A

Altered function in regulation of ion channels such as bicarbonate to maintain lumen pH

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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
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10
Q

What is the association of Beta-catenin and Wilms

A

Mutations in Beta-catenin can cause increase in sporadic Wilms tumors

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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

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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

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13
Q

With regards to Neurobplastoma, what is the postive prognosis with regards to the factor mutations of neuritogenesis gene

A

Absent

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14
Q

Which 3 congenital groups have a higher association with Wilms tumor

A
  • WAGR syndrome
  • Denys-drash Syndrome
  • Beckwith-Wiedermann Syndrome
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15
Q

How can Cardiac abnormalities result in hydrops fetalis

A

They result in arrhythmias and cardiac failure with blood pooling

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16
Q

What is the role of surfactant SP-A and D

A

I ate immune defenses

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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)

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18
Q

Wha is anaplasia in a Wilms tumor associated with

A

TP53 mutations and resistance to chemotherapy

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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
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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

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21
Q

What is the liver involvement in CF patients

A
  • hepatic steatosis due to black age of the bile ducts

- focal biliary cirrhosis

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22
Q

What are the important diagnostic urine compounds in neuroblastomas

A

Vanillylmandelic acid [VMA]

Homovanillic acid [HVA]

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23
Q

What is a heterotopia or choristoma

A

Microscopically normal cell in an abnormal location

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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
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25
Q

Of the WT2 gene in BWS, which imprinting molecules can work and which has the largest impact

A

Insulin like growth factor 2(IGF2) normally paternally only, but could have maternal expressed as well leading to excess.

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26
Q

In the fetal period (week 9 to birth) what is the fetus susceptible to

A

Growth retardation and organ injury

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27
Q

What is the state of the color of skin in neuroblastomas

A

Deep blue discoloration of skin, leading to the blueberry muffin baby

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28
Q

What are the most commonly seen organisms causing intrauterine infections

A
  • ureaplasma urealyticum
  • mycoplasma hominis
  • gardnerella vaginalis (bacterial vaginalis)
  • trichomonas
  • gonorrhea
  • Chlamydia
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29
Q

What is class 3 CF

A

Defective regulation prevent the binding of ATP and hydrolysis, so there is a normal number at the surface but is nonfunctioning

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30
Q

Which form of policy is assoacited with a good prognosis in neuroblastomas

A

Hyperdiploid (whole chromosome gains)

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31
Q

As a family, neuroblastoma contain characteristic features such as

A

Spontaneous or therapy induced differentiation of primative neuroblasts into mature elements and spontaneous regression,

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32
Q

What is the time frame for PROM

A

After 37 weeks, where the risk to fetus is decreased

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33
Q

What is the importance of PKU mothers who are trying to get pregnant

A

Restriction of Phe before conception and during pregnancy

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34
Q

What is stage 2 for neuroblastoma

A

Localized tumor with incomplete gross resection, ipsalateral nonadherent LN negative for tumor

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35
Q

Most bacterial infections are acquired through which route

A

Transcervical (ascending) route (cervicovaginal route)

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36
Q

Parvovirus B19 is assoacited with which condition and changes in fetuses

A

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

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37
Q

The presence of a schwannian stroma is assaocited with which prognosis

A

Favorable

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38
Q

What is class 1 CF

A

Defective protein synthesis and lack at the surface

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39
Q

What is stage 4S in neuroblastoma

A

Localized primary tumor with dissemination limited to skin, liver, and bone marrow

Restricted to infants <1 year

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40
Q

Which weeks is the start where there are only physiological and minor morphological abnormalities

A

Starting week 8

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41
Q

Which gene is the major cause of familial predisposition to neuroblastomas

A

Germline mutations in Anaplastic lymphoma kinase (ALK)

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42
Q

What is the definition of fetal abnormalities

A

Intrinsically reduce growth potential of the fetus despite being adequate nutrition

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43
Q

What are the common causes of decreased placental blood flow

A

Vascular diseases such as Preeclampsia and chronic hypertension
-Thrombophilias such as Antiohospholoid syndrome and hypercoagubility states

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44
Q

What are the histological characteristics of malignant non-hematopoietic pediatric neoplasms

A

More primitive (embryonic) undifferentiated,small, round nuclei, and are named blastomas (aka small round blue cell tumors)

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45
Q

Congenital infantile fibrosarcomas are unique in which fusion product and can be used for diagnostic purposes

A

ETV6-NTRK3

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46
Q

The TORCH group of infections present with which features

A

Fever, encephalitis, chorioretinitis, hepatosplenomegaly, pneumonitis, myocarditis, hemolytic anemia, hemorrhagic skin lesions

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47
Q

In most CF cases, what is the state of the pancreas and what can it lead to

A

-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

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48
Q

What are the 4 things seen with WAGR syndrome

A

Wilms tumor
Aniridia
Genital anomalies
Retardation (mental)

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49
Q

What is synchondonous tumors

A

Involving both kidneys at the same time

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50
Q

In childhood neuroblastomas, where is the majority arising from

A

Adrenal medulla

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51
Q

What is necrotizing enterocolitis associated with

A

Enteral feeding, so may involved some sort of bacteria

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52
Q

What percentage of PKU females give birth to mentally disabled children and what is the reasoning

A

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

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53
Q

What are the most important determinants of outcome for neuroblastomas

A

Age and stage

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54
Q

What are mecachronous tumors

A

Infects kidneys one after another

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55
Q

Why are near ploidy neuroblastomas assoacited with a less favorable outcome

A

They are considered to have genomic instability, leading to chromothriposis, which can lead to MYCN amplification

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56
Q

What is agenesis

A

Complete absence of an organ and its primordium

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57
Q

What is usually seen in an infection of the fetus

A

-inflammation of the placental membranes and cord

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58
Q

What is stage 1 for neuroblastoma

A

Localized tumor with complete gross excision, ipslateral nonadherent LN negative for tumor

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59
Q

Premature birth due to transcervical infection occurs because

A

Damage and rupture of the amniotic sac due to direct inflammation or production of prostaglandins

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60
Q

How do most parasitic and viral infections infect a fetus

A

Transplacentally via the chorionic villi

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61
Q

What is stage 4 for neuroblastoma

A

Any primary tumor with dissemination to distant LN, bone, bone marrow, liver, skin

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62
Q

Surfactant sysnthesis in utero is inhibited by what

A

-Compensatory high blood levels of insulin in diabetic mothers, counteracting effects of steroids. C-section is also associated with increased risk of RDS

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63
Q

What are the common factors leading to RDS

A

Preterm, but normal weight for age, male, maternal diabetes, and C-section

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64
Q

What tumors are patients with BWS at higher risk for

A
  • Wilms tumor
  • Hepatoblastoma
  • pacreatoblastoma
  • adrenocortical tumors
  • rhabdomyosarcomas
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65
Q

What is the other very minor cause of PKU and why is it important to clinically find out this mutation

A

2% show abnormalities in synthesis or recycling of cofactor tetrahydrobiopterin BH4, which can not be treated with restrictions of Phe

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66
Q

With regards to Neurobplastoma, what is the postive prognosis with regards to the factor MYCN

A

Non amplified

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67
Q

What is the clinical presentation of necrotizing gastrocolitis

A

Bloody stool, abdominal distention, circulatory collapse, pneumatosis intestinalis

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68
Q

Which RDS newborns are never seen with hyaline membranes

A

Stillborn

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69
Q

Which factors are associated with a poor diagnosis of Wilms tumor

A

Loss of material on chromosome 11q and 16q, gain of chromosome 1q

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70
Q

What is the bicarbonate exchanger that is present in CF and normal lung patients

A

SLC26 on the apical surface of CFTR

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71
Q

What happens when some mother contain IgG blood antibodies

A

It will cross the placenta, but the lysis is minimal. There is no treatment for this incompatibility

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72
Q

What is aplasia

A

Lack of the organ due to lack of growth from the present primordium

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73
Q

What are the common causes of uteroplacental insufficiency

A

Umbilical-placental vascular anomalies (placental hemangioma), placental disruption, placenta previa, placental thrombosis and infarction, placental infection ad multiple gestations

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74
Q

What are the clinical presentations of PKU

A

Severe mental retardation, seizures, decreased pigmentation of hair and skin, eczema

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75
Q

What type of FGR is present due to infections

A

Proportionate FGR, with symmetric growth restriction where all organ systems are similarly affected

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76
Q

What is occurring in patients who have an intact CFTR but have a mutated bicarbonate exchanger

A

-Acidic secretions due to lack of bicarb results in decreased lumenal pH that increases mucin precipitation, and plugging ducts with increased binding of bacteria

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77
Q

What is secreted in a large amount of neuroblastomas and what percentage

A

90% secrete catecholamines

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78
Q

With regards to Neurobplastoma, what is the postive prognosis with regards to the factor TRKB expression

A

Absent

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79
Q

What is the result of PKU patients having the PAH deficiency

A

Not able to convert Phe to tyrosine

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80
Q

What are nephrogenic rests and what are the associated with

A

Precursor lesion of Wilms tumor and are associated with 100% of bilateral Wilms tumors

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81
Q

Polydactyly and syndactyly (fused finders) are what type of morphogenesis

A

Malformation

82
Q

How do most children with Wilms tumor present

A
  • Large abdominal mass or may cross the midline

- mematuria, pain in abdomen after trauma, intestinal obstruction, hypertension

83
Q

How does maternal diabetes lead to congenital malformations

A

Maternal hyperglycemia induced fetal hyperinsulinemia and macrosemia(organomegaly, increased fat and muscle mass), cardiac defects, neural tube defects, and CNS malformations

84
Q

Prematurity can give rise to what

A
  • Neonatal Respiratory distress aka hyaline distress syndrome
  • Necrotizing entecolitis
  • sepsis
  • intraventricular and germinal matrix hemorrhage
85
Q

In CF patients, what is the mechanism that airways get dehydrated

A

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
Q

What is the age and weight risk with SIDS

A 
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
Q

Which enzyme deficiency is more common cause of galactosemia

A

Total lack of galactose-1-phosphate uridyl transferase (GALT) which now leads to high levels of galactose-1-phosphate

88
Q

What are the products that build up during galactosemia

A

Galactitol and galactonate

89
Q

How is ENaC activity related to a dysfunctional CFTR

A

Mutated CFTR fails to inhibit ENaC, so there is an increased sodium reuptake across the apical membrane

90
Q

What condition is the cause of amnion nodosum

A

Aka nodules in the amnion, is caused by Oligohydramnios

91
Q

What is the mechanism that organisms can induce premature labor

A

TLR binding causes the release of prostaglandins that can stimulate the smooth muscle contractions

92
Q

Which condition is very commonly seen in patients with abnormal bicarb conductance

A

Pancreatic insufficiency

93
Q

What is the most common factor leading to deformations

A

Uterine constraint seen between week 35 and 38 where there is rapid growth of the fetus

94
Q

With regards to Neurobplastoma, what is the postive prognosis with regards to the factor chromosome 1p

A

Still present

95
Q

What symptoms can be seen in neuroblastomas

A

Proptosis and ecchymosis due to periorbital edema as it is a common site of metastasis

96
Q

What is the risk of Wilms tumor in those with Denys-Drash syndrome

A

90% have Wilms

97
Q

What is the most common factors associated with SGA resulting from

A

Decreased blood flow to placenta

98
Q

Neuroblastomas tend to spread via the bloodstream to which locations

A

Liver, lungs, bone marrow, and bones

99
Q

What is a hamartoma

A

Excessive,focal overgrowth of cells and tissues native to the organ in which it occurs

100
Q

What are the examples of chemical that can cause congenital malformation

A

-thalidomide, alcohol, anticonvulsants, warfarin, 13-cis-retinoic acid

101
Q

Recurrent sinonasal polyps should be tested for which disease

A

CF

102
Q

When is idiopathic chronic pancreatitis seen

A

An isolated late finding during the absence of other symptoms for CF

103
Q

During the dangerous 3 to 9 weeks in gestation, what are the source of organs

A

Germ cell layers

104
Q

What is stage 3 for neuroblastoma

A

Unreserved unilateral tumor infiltrating across midline or localized unilateral tumor with contralateral regional LN

105
Q

What gene and chromosome location causes CF

A

CTFR gene on 7q31.2

106
Q

What is Denys-drash syndrome clinically present with

A
  • Gonadal dysgenesis (male pseudohermaphrodism)
  • early onset neuropathy (renal failure)
  • Diffuse mesangial sclerosis in glomerular lesion
107
Q

Patients with mutations in CDKN1C have which disease and are assoiated with which risks

A

CDKN1C aka p57 aka KIP2 have beckwith-Wiedermann syndrome, but are at a decreased risk for Wilms tumor

108
Q

What is a malformation syndrome and what is the common cause

A

Constellation of congentical anomalies caused by a single etiological agents such as a viral infection or chromosomal abnormalities that affects several tissues

109
Q

In those galactosemia patients that survive to adulthood, what are effects seen at old age

A

Speech disorder, gonadal failure (especially ovarian failure) and ataxia

110
Q

Why are ABO incompatibles not normally leading to clinical manifested conditions

A
  • 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
Q

How does the fetus acquire an infections that has been obtained by transcervical route

A

Inhaling infected amniotic fluid into the lungs shortly before birth or passing through an infected birth canal during delivery

112
Q

What type of alveolar cells produces surfactant and which week does it begin

A

Type 2 and week 35

113
Q

Denys-drash are also atrisk of developing which germ line cell cancer

A

Gonadoblastomas

114
Q

Patients who recover from RDS are more likely to develop which syndromes

A

Patent ductus arteriosus, intraventricular hemorrhage, and necrotizing entercolitis

115
Q

What is the most common cause of early onset penis and bacterial meningitis

A

Group B streptococcus

116
Q

What is the effect of O mother with A or B fetus

A

Higher risk of hemolytic lysis, but even the effect is minimal

117
Q

What are the common causes of oligohydramnios, aka Potter sequence

A
  • chronic leakage of amniotic fluid/rupture of amnion
  • uteroplacental insufficiency (due to maternal hypertension or toxemia
  • renal agensis in the fetus
118
Q

What is the most common cause of nonimmune hydrops

A

Fetal anemia due to homozygous alpha thalassemia from the deletion of all 4 alpha globin genes

119
Q

What are maternal conditions that may cause congenital malformations

A

-Diabetes, PKU, endocrinopathies

120
Q

What are the clinical presentations seen in galactosemia

A
  • 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
Q

What are the most common causes of SUID

A

Infections, such as viral myocarditis and bronchopneumonia

122
Q

In CF, what is the mechanism of the characteristic sweat

A

Hypertonic salty sweat due to mutations in CFTR, leading to lack of reabsorbance of sodium and chloride

123
Q

What is the prognosis of most patients with Wilms tumor

A

Most cured of malignancy, but at risk of developing second primary tumors of bone, sarcomas, leukemia, and lymphomas

124
Q

What is the heritability of disruptions

A

They are not heritable and are not associated with risk in subsequent pregnancies

125
Q

What is class 2 CF

A

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
Q

What is immune hydrops fetalis and what is it caused by

A

Rh blood incompatibility and edema of the fetus

127
Q

What are examples of disruptions

A

Amniotic band syndrome, as well as environmental events

128
Q

What types of neuroblastomas are commonly reported

A

In situ

129
Q

What is fetal hydrops

A

Accumulation of edema fluid in the fetus during intrauterine growth

130
Q

Neuroblastoma tumors include what structures of origin

A

-neural crest cells in the sympathetic ganglia and adrenal medulla

131
Q

Immune hydrops is commonly caused by what

A

Antibodies and type 2 mediated reaction

132
Q

What is Beckwith-Wiedermann syndrome (BWS) clinically present as

A

Enlargement of body organs (organomegaly), macroglossia, hemihypertrophy, omphalocele, large cells in adrenal cortex (adrenomegaly)

133
Q

What are examples of multifactorial inheritance

A

Cleft lip, palate and neural tube defects

134
Q

What is the most common primary renal tumor of childhood

A

Wilms tumor

135
Q

What happens in patients have have a normal WT1 but a mutated PAX6

A

Sporadic aniridia, but not at an increased risk for Wilms

136
Q

What is required to be labeled a ganglioneuroma

A

Large cells resembling mature ganglion cells with few neuroblasts along with the appearance of Schwann cells (prerequisite for naming ganglioneuroblastoma)

137
Q

Which weeks in embryonic period is the fetus not susceptible to teratogens

A

Weeks 1 and 2

138
Q

What are the commonly seen malformations

A

Congenital heart defects and anencephaly

139
Q

Where are the minority of neuroblastomas arising from

A

Along the sympathetic chain in the posterior mediastinum and abdomen

140
Q

What are deformations caused by

A

Extrinsic disturbances and are generally due to abnormal biomechanical forces

141
Q

Why type of FGR are seen in placental abnormalities

A

Asymmetric growth of the fetus with sparing of the brain

142
Q

What is the most common form of inborn error of metabolism and which population is at a higher risk

A

PKU and it is higher in Scandinavian decent, uncommon in blacks and Jewish

143
Q

What is the condition cystic hygroma

A

Edema leading to fluid accumulation in the neck area in the fetus

144
Q

What commonly kills fetuses infected by inhaled infected amniotic fluid

A

Pneumonia, sepsis, and meningitis

145
Q

What are the physical appearances of hemangiomas

A

-elevated, irregular, red-blue masses and are refered to as port-wine stains

146
Q

IN SIDS patients, what is commonly found morphologically

A

Multiple petechiae of the thymus, visceral, and parietal pleura, congested lungs, astrogliosis,

147
Q

What are the major abnormalities seen in bronchopulmonary dysplasia

A

Decrease in alveolar septation (large simplified alveolar structures) and dysmorphic capillary configuration caused by hyperoxemia, hyperventilation, prematurity, inflammation cytokines and vascular maldevelopment

148
Q

What are the risk factors for PPROM

A
  • prior history of preterm birth
  • preterm labor
  • vaginal bleeding
  • maternal smoking
  • low nutrition or social economical status
149
Q

What is the overall result of galactosemia and what is the inheritance pattern

A

Accumulation of galactose-1-phosphate in tissues and is autosomal recessive

150
Q

In normally functioning CFTR, how is ENaC affected

A

CFTR inhibits ENaC, blocking sodium reuptake across the apical membrane

151
Q

What are the morphological characteristics of Wilms tumors

A
  • recapitulate different stages of nephrogensis

- triphasic combination of blastemal, stromal, and epithelial cell types

152
Q

Where is the chromosomal abnormality located in Beckwith-Wiedemann syndrome

A

11p15.5 (WT2)

153
Q

What is class 4 CF

A

Decreased conductance, so there is a normal number at the apical surface, but a decreased effectiveness

154
Q

What testing mechanism provides a good indication on the development stage of the lungs

A

Amniotic fluid phospholipid levels

155
Q

What is the most common cause of respiratory distress in newborns

A

Respiratory distress syndrome (RDS) aka hyaline membrane disease

156
Q

What condition is commonly associated with an infection by B. Cenocepacia and in which patients

A

Fulminant illness, known as capacity syndrome in CF pts

157
Q

Where are hemangiomas likely to form

A

Scalp and face

158
Q

What are lymphangiomas characterized by

A

Cystic and cavernous spaces

159
Q

What is the most common development defect in human midface and forebrain

A

Holoprosencephaly (usually due to disruption in Shh signaling)

160
Q

When is the peak incidence of Wilms tumor

A

Between 2 to 5 years , 95% before 10

161
Q

With regards to Neurobplastoma, what is the postive prognosis with regards to the factor chromosome 11q

A

Still present

162
Q

What are lymphangiectasis

A

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
Q

PKU is defined as a deficiency in which enzyme and what is the everall result

A

Phenylalanine hydroxylase (PAH) resulting in hyperphenylalaninemia

164
Q

What are malformations

A

Primary errors in morphogensis, in which there is a intrinsically abnormal developmental process, most commonly multifactorial

165
Q

What is the condition of benign hyperphenylalaninemia

A

Only moderate increased levels of Phe without the associated neuro damage

166
Q

What are the clinical presentations usually seen with a newborn with RDS following birth

A

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
Q

Where are lymphangiomas commonly occuring

A

Deep regions of the neck, Axilla, mediastinum retroperitoneal tissue

168
Q

Hemangiomas are associated with which familiar gene and resemble which hereditary disorder

A

Von Hippel-Lindau

-CNS cavernous hemangioas, with familial mutations in cerebral cavernous malformations (CCM) genes

169
Q

What is the leading cause of death between the ages of 1 month and 1 year

A

SIDS

170
Q

In CF patients, what is produced by the invading bacteria

A

Alginate, aka mucous polysaccharide capsule

171
Q

Which neuroblastoma stages tend to be favorable prognosis

A

1, 2A, 2B

172
Q

Patients with galactosemia are prone to which organisms

A

E.Coli septacemia

173
Q

How can the ALK neuroblastomas be targeted for treatment

A

Small molecule inhibitory that target the activity of the kinase

174
Q

Which condition is associated with cystic hygroma

A

Turner syndrome

175
Q

What is the result of cyclopamine in plants and what is the mechanism

A

-Caused holoprosencephaly and cyclopenia due to disruptions in Shh signalling (hence the holoprosencephaly involvment)

176
Q

When are the two higher periods of teratomas

A
  • Age 2 (congenital neoplasm)

- late adolescence (prenatal but slower growing)

177
Q

When are most cases of perinatal sepsis aquired and what is the general clinical presentation

A

At or shortly after birth with pneumonia, sepsis, meningitis writhing 4 to 5 days of life

178
Q

What is a major cause of preterm labor with or without intact membranes

A

Intrauterine infections

179
Q

Most neuroblastomas occur in which fashion

A

Sporadically

180
Q

What is the exception to ENaC and CFTR with regards to mutations and amount of chloride and sodium being moved

A

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
Q

What is the time frame for PPROM

A

Before 37 weeks, leading to the addition of preterm

182
Q

How do lymphangiomas cause clinical issues

A

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
Q

What are the prominent fetal abnormalities

A
  • Chromosomal disorders
  • congenital abnormalities
  • congentical infections
184
Q

What are the physiological effects of oligohydramnios

A

-flattened facies, abnormal hands and feet, hypoplastic lungs, and amnion nodosum

185
Q

What are the consequences of hemolysis of fetal RBCs via maternal antibodies

A

-Anemia due to RBC loss

Jaundice due to RBC breakdown and unconjugated bilirubin

186
Q

What are the three risk model in SIDS

A
  • Vulnerable infant
  • critical development period in homeostatic control
  • exogenous stressor
187
Q

What are the most common teratomas of childhood

A

Sacrococcygeal teratoma

188
Q

The presence of alpha thalassemia/mental retardation X linked (ATRX) and protein tyrosine phosphatase receptor type D (PTPRD) are associated with what in neuroblastomas

A

More aggressive and higher stages

189
Q

What is the most common tumor of infancy

A

Hemangioma

190
Q

With regards to Neurobplastoma, what is the postive prognosis with regards to the factor TRKA expression

A

Present

191
Q

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

A

They are the same concentrations, the issue stems from isotonic but low volume surface fluid layer (aka dehydration)

192
Q

What is atresia

A

Absence of an opening, usually of a hollow organ or intestine

193
Q

When are placental abnormalities seen

A

Third trimester of pregnancy where there is rapid fetal growth, where uteroplacental insufficiency is the major cause of growth restriction

194
Q

What is the result of pregnant use of vitamin A derivatives and what is the mechanism of action

A

-CNS, cardiac and craniofacial defects, such as cleft lip, cleft palate due to deregulation of TGFbeta pathway

195
Q

Which two genes are located on 11p13 are affected in WAGR

A

WT-1

PAX6 (autosomal dominant for aniridia)

196
Q

What are the three causes of nonimmune hydrops

A

CV defects, chromosomal abnormalities, fetal anemia

197
Q

What condition is the chromosomal translocation t(12;15)(p13;q25) been described in

A

Congenital infantile fribrosarcoma

198
Q

Patients with WAGR carry which germline deletion

A

11p13

199
Q

What conditions are associated with treatment of RDS

A

High concentration ventilator oxygen leads to retrolental fibroplasia in eyes, and bronchopulmonary dysplasia

200
Q

What is class 5 CF

A

Reduced abundance due to intronic splice sites on CFTR promoter gene region, so there is a reduced number of functional proteins

201
Q

What are the TORCH infections most associated with GFR

A

Toxoplasmosis
Rubella
CCMV
Herpesvirus

202
Q

What factors increases the risk of deformations

A

First pregnancy, small uterus, malformed (bicoruate) uterus, leiomyomas, oligohydramnios, multiple fetuses, abnormal fetal presentation

Robbins Pathology MOD2 (Chptr 7-10) (4 decks)

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