Diseases of Infancy and Childhood Flashcards
How do we fix a child that has atelectasis or RDS?
glucocorticoids
Clinical course an prognostic features of neuroblastoma:
1) what is the most important determinants of outcome? What’s the exception to one of them?
2) what’s the critical period for age?
3) what morphology leads to a great prognosis?
4) what about MYCN amplification?
5) ploidy? which is more aggressive? what’s
6) What aout mitosis-karyorrhexis index?
Age and Stage: 1, 2A or 2B = great at any age… EXCEPT HIGH AMPLIFICATION OF MYCN
18 months or younger = great prognosis
schwannian Stroma and gangliocytic differentiation
if there is amplification, BAD Prognosis REGARDLESS OF AGE
near diploid is more aggressive than hyperploidy –> segmental chromosomal loss (rather than whole chromosome) –> “chromothripsis –> localized loss that can amplify MYCN
more than 200/5000 cells
Prematurity:
definition
what are he 4 major risk factors associated with it?
a gestational age less than 37 weeks
1) PPROM: Preterm Premature Rupture of Placental Membranes –> spontaneous ROM occurring before 37 weeks
2) Intrauterine infection –> chorioamnionitis (inflammation of placenta), funisitis (inflammation of the fetal umbilical cord). –> most common are Ureaplasma urealyticum,
3) uterus/cervix/placental abnormalities
4) multiple gestations
PKU:
1) who is affected
2) what’s the problem
3) what genotype
4) what do kids present with and at what time
5) 2% of the population has what abnormality that can also give PKU?
scandinavian descent
deficiency in phenylalanine hydroxylase (PAH) –> buildup of phenylalanine.
autosomal recessive
6 months, severe mental retardation. Seizures, decreased pigmentation of hair and skin, and eczema
BH4 (tetrahydrobiopterin) recycling or synthesis.
Neuroblastic tumors:
what are they the most common of?
most common sites of involvement
what do all neuroblastic have in common?
Prevalence
EXTRACRANIAL solid tumor of childhood
tumors of the sympathetic ganglia and adrenal medulla (hence present with abdominal problems) that are derived from primordial neural crest cells populating these sites.
spontaneous or therapy induced differentiation of primitive neuroblasts into mature elements, spontaneous tumor regression, and a wide range of clinical behavior and prognosis.
1 in 7000 live births, 700 dcases each year in the US
What are the parental risk factors of SIDS?
Infant?
Environment?
young maternal age (under 20), maternal smoking, drug abuse in EITHER PARENT.
brain stem abnormalities (medulla), prematurity and or low birth weight, MALES
Environment –> prone, side sleeping, sleeping with parents within first 3 months, sleeping on soft surfaces, hyperthermia
What is the staging for neuroblastoma
stage 1 –> localized tumor with complete excision, no tumor in lymph nodes
2A –> localized tumor with incomplete gross resection
2B –> localized tumor with OR WITHOUT incomplete gross resection… Lymph nodes + with tumor.
3 –> unresectable unilateral tumor
4 –> any tumor with dissemination to distant lymph nodes, bone, bone marrow
4S –> localized tumor with dissemination to skin, liver, and/or bone marrow… limited to infants under 1 year.
how does it work with the first breath taken?
What happens to infants with a deficiency of surfactant?
first breath needs a ton of effort, but it retains 40% of the air and keeps the alveoli open (because of the surfactant) they took in so each breath after that doesn’t need as much work.
lungs collapse with each breath, so infants must work as hard as they did with the first breath as then do with other breaths too!
the most frequent childhood cancers arise in what?
what about in adults?
hematopoietic system, nervous tissue, soft tissues, bone, and kidney
skin, lung, breast, prostate, and colon
Cyclopamine is what?
what’s to note about vitamin A derivative all-trans-retinoic-acid?
plant teratogen –> when pregnant sheep feed on this, the lambs have holoprosencephaly and cylopia
absence of it –> many problems affecting multiple organ systems… but too much of it –> retinoid acid embryopathy –> CNS, cardiac, cleft lip and palate.
What’s the difference between heterotopia from hamartoma?
example of heterotopia?
heterotopia –> microscopically normal cells or tissues that are present in ABNORMAL locations
**pancreatic tissue found in the wall of the stomach
hamartoma –> excessive, focal overgrowth of cells and tissues NATIVE to the organ in which it occurs
Galactosemia:
1) what happens in the kidney?
Galactose-1-phosphate in the kidney impairs aa transport, resulting in aminoaciduria
what are the most common causes of SUIDS?
infections, viral myocarditis, bronchopneumonia
Denys-Drash syndrome
1) what 2 things are they presenting with?
2) what do they have an increased risk of?
3) what risk for Wilms? why is it this high?
Gonadal dysgenesis –> male pseudohermaphroditism
early onset nephropathy –> renal failure
increased risk of GONADOBLASTOMA
90% –> biallelic inactivation of WT1 –> DOMINANT-NEGATIVE MISSENSE MUTATION in the zinc-finger region of the WT1
What is Fetal Hydrops?
what us the generalized edema of the body called?
what is the localized accumulation of fluid called?
accumulation of edema fluid in the fetus during intrauterine growth
hydrops fetalis
cystic hygroma
Most children with wilms tumor present with what?
LARGE abdominal mass that is unilateral or if large enough, extend midline.
Hematuria, pain in the abdomen, intestinal obstruction, hypertension.
what are the 4 benign tumors of childhood?
hemangioma
lymphatic tumor
fibrous tumors
teratomas
Clinical Course and Prognostic features of Neuroblastoma:
1) what do kids usually present with? what age?
2) what do NEONATES present with and what’s the nickname?
3) 90% of these tumors produce what, which makes it an IMPORTANT DIAGNOSTIC FEATURE in BLOOD?.. what do you see increased levels in the URINE?
4) where is a common metastatic site and at what age doe this happen?
`under 2, large abdominal masses, fever, weight loss.
multiple cutaneous metastases that cause deep blue discoloration of the ski –> blueberry muffin baby
catecholamines… although hypertension usually isn’t a problem –> LEADS TO ELEVATED vanillylmandelic acid (VMA) and homovanillic acid (HVA)
periorbital region –> after 2 years old
What maternal abnormalities can attribute to FGR?
what drugs can cause FGR?
what about in developing countries?
maternal conditions that lead to decreased placental blood flow –> preeclampsia, chronic hypertension
teratogens, and some common therapeutic agents like phenytoin.
maternal malnutrition
Deformations:
1) definition
2) how is this similar to disruptions? how is it different?
3) what’s the most common underlying factor?
4) what is an example?
5) what factors can induce this? start with maternal(4), then include placental / fetal (3)
localized or generalized compression of the growing fetus by abnormal biomechanics forces leading to structural abnormalities.
also extrinsic disturbance, but these are more common and not the destruction of an organ or body part
uterine constraint –> 35th and 38th week, rapid increase in the size of the fetus outpaces the growth of the uterus, so the baby undergoes uterine constraint.
clubfeet (from a potter sequence).
first pregnancy, small uterus, malformed uterus, LEIOMYOMAS (he stressed this one).
oligohydramnios, multiple fetuses, abnormal fetal presentation
When you see ganglioneuroma, if there is schwannian stroma, what does this mean?
much more favorable outcome
SIDS vs SUID?
many cases of sudden death in infancy have unexpected anatomic or biochemical basis discernable at autopsy, so this would be Sudden Unexpected Infant Death (SUID)
SIDS we have no idea why despite autopsy
What is immune hydrops?
what hypersensitivity reaction is it?
what causes this?
what are the common antigens known to cause these reactions?
when does it occur? and why?
hemolytic disease caused by blood group antigen incompatibility between mother and fetus
type 2
so the fetus inherits antigenic stuff from the father and that’s considered foreign to the mother, immune response can occur
Rh antigens (D antigen) and ABO blood groups
second and subsequent pregnancies in an Rh-negative mother with an Rh-positive father. –> because at first exposure the mom created IgM antibodies that can’t cross the barrier.
What is considered a major cause of familial predisposition to neuroblastoma?
mutation in anapestic lymphoma kinase (ALK) gene
Neuroblastoma histology:
1) classic neuroblastoma look like what?
2) what is commonly seen in which they are concentrically arranged about a central space filled with fibrillary material?
what do they stain positive for?
small cells with dark nuclei embedded in a faintly eosinophilic NEUROPIL
Homer-Wright Pseudorosettes (or rosettes)
neuron-specific enolase
Histologically, many malignant non-hematopoietic pediatric neoplasms are unique. how?
what does blastoma mean?
they have more primitive (embryonal) undifferentiated appearance –> characterized by sheets of cells with SMALL, ROUND nuclei… they’re called “small round blue cell tumors”
they frequently show features of organogenesis specific to the site of tumor origin…
blastoma –> undifferentiated cells or immature cells
How do we know that a baby might have CF? what do you see on xray?
what’s the specific reasoning why a mutation in the CFTR gene makes it a problem?
meconium ilius –> thick viscid plugs of mucus that are in the small intestine which sometimes cause small-bowel obstruction. –>
microcolon (unused large intestine) –> soap-bubble or frothy pattern, with a dilated small bowel.
it results in defective protein folding in the Golgi and degradation of CFTR before it reaches the cell surface
What is the pathogenesis NRDS?
what’s the fundamental defect?
what genes code for this?
what produces this?
immaturity of the lungs is the MOST important substrate on which RDS develops
pulmonary surfactant.. should be produced at 24, 25, 26 weeks that allow alveoli to stay open with less pressure.
SFTPB or SFTBC genes
type 2 alveolar cells
What is Necrotizing Enterocolitis
1) what do premature children present with?
2) what is it associated with?
3) what ultimately happens?
4) what does it eventually culminate to?
5) what do we see on radiographs?
onset of bloody stools, abdominal distention, and development of circulatory collapse.
Platelet activating factor –> increasing mucosal permeability by promoting enterocyte apoptosis and compromising tight junctions.
ultimately breaking down mucosal barrier –> migration of gut bacteria – inflammation and mucosal necrosis
sepsis and shock
gas within the intestinal wall (pneumatosis intestinalis)he talked about this
What is the L/S ratio?
Lecithin-sphingomyelin ratio for amniotic fluid
if L/S ratio is greater than 2, indicates fetal lung maturity
if less than 2, increased risk of RDS, less than 1.5 is very high risk.
What is the 3 major categories of anomalies and what are the frequencies of each?
why doesn’t this add up to 100%
Genetic causes (12-25%) –> chromosomal (10-15%), Mendelian (2-10%)
Environmental (9-12%)–> Maternal/placental infections (2-3%), Maternal disease states (6-8%), drugs and chems, (1%)
Multifactorial (20-25%) –> MOST COMMON
40-60% of congenital abnormalities are unknown.
Agenesis
Aplasia
Atresia
complete absence of an organ and its associated primordium.
absence of an organ but occurs due to failure of growth of the EXISTING primordium
absence of an opening.. usually a hollow organ like the esophagus
Morphology of Necrotizing enterocolitis:
1) what is usually involved?
2) 20-60% of patients need what?
3) those who get over the problem end up having what?
4) what do you see under the microscope?
terminal ileum, cecum, right colon (usually)
resection of the necrotic segments of the bowel.
post-necrotizing enterocolitis strictures from fibrosis
gas bubbles, ulceration, colonization, coagulative necrosis
what are the most common neoplasms of childhood and how does this differ from kids?
Soft-tissue tumors of mesenchymal
most common in adults are epithelial origin.
What infections are most common for FGR infants?
TORCH (toxoplasmosis, Rubella, Cytomegalovirus, herpesvirus)
Galactosemia:
what do children with this present with (4 things)
Vomiting and Diarrhea within a few days of milk ingestion
jaundice and hepatomegaly within the first few weeks of life
cataracts within the first few weeks
6 months onward mental retardation
What is Synchronous?
Metachronous?
In Wilm’s tumor, tumors involving both kidneys SIMULTANEOUSLY, OR metachronous which is one after the other.
Teratomas:
When are the two peaks in incidence of teratomas? what kind of tumors will you see?
what are the most common teratomas of childhood? who is it more common in?
most benign teratomas are encountered where? what about malignant?
2 years of age –> congenital neoplasms
late adolescence or early adulthood –> may be prenatal in origin but more slow growing
sacrococcygeal teratomas –> 4x more common in girls
less than 4 months. older children.
Neuroblastoma:
Sometimes these can show signs of maturation, what can be found mixed with the primitive neuroblasts? what is this called?
what happens if you see more of this mature cell type and not as many neoblasts?
when this happens, what usually is accompanying this change?
neuroblasts can mature into ganglion cells –> ganglioneuroblastoma
Ganglioneuroma
the appearance of Schwann cells called “Schwannian Stroma” –> ***THIS IS THE differentiating factor between ganglioneuroma and ganglioneuroblastoma
Wilms tumor:
the risk of willms is increased with what 3 congenital malformations associated with chromosomal loci?
1) WT1 deletion in WAGR syndrome –>
2) biallelic inactivation of WT1 Denys-Drash syndrome
3) Beckwith-Wiedemann Syndrome –> genomic imprinting
what is SIDS?
what is it also called and why is it called this?
sudden death of an infant under 1 year which remains unexplained after a thorough case investigation, including a case investigation, autopsy, exam of death scene, and review of clinical history
crib death –> usually dies while asleep mostly in prone or side position.
an individual with CF comes in years later to be diagnosed what can you help attribute to this disease?
exocrine pancreatic insufficiency
recurrent nasal polyps
liver disease (puberty dx)
infertility –> obstructive azoospermia
What happens because of red cell lysis seen in ABO or Rh immune hydrops?
anemia + Jaundice
Sequences:
definition
what’s a good example, what results because of this: facial features, bones, growth of stuff.
what nodules can be seen morphologically?
cascade of anomalies triggered by one initiating aberration. so this has MULTIPLE congenital anomalies rather than just one.
POTTER SEQUENCE –> single initiating event of “renal agenesis, amniotic leak, or others” leads to –> oligohydramnios –> results in a classic phenotype of flattened faces, positional abnormalities of the hands and feet, hips dislocated, growth of the chest wall sucks and lungs are hypo plastic.
amnion nodosum, or nodules in the amnion are present in this sequence.
When might you consider something to be an “inborn error of metabolism”?
what three do you need to know?
genetically inherited as autosomal recessive or X-linked.
PKU, galactosemia, CF
When a child has atelectatic lungs, what is the chain of events that happens?
you get a soft thoracic wall that is pulled in as the diaphragm descends –> reduces lung compliance –> formation of fibrin-hyaline membranes –> weak gas exchange –> high CO2 levels and hypoxemia
vicious cycle
of the 10 common malignant neoplasms, which one accounts for more deaths in children younger than 15?
Leukemia
Neuroblastoma Morphology:
40% of neuroblastoma arise in what? what about the rest?
what kind of size are neuroblastoma usually? what happens to these usually?
adrenal medulla –> otherwise anywhere along the sympathetic chain.
minute nodules (IN SITU LESIONS) to large masses, but in situ are 40x more frequently seen –> spontaneously regress –> leaves fibrosis or calcification in the adult.
Malformations:
1) definition
2) where could the problem be?
3) two examples?
primary errors of morphogenesis, in which there is an INTRINSICALLY ABNORMAL developmental process.
problems of a single gene or chromosomal defect, but mostly multifactorial.
congenital heart defect or anencephaly
What are the three primary causes of death in the neonatal period?
what about in infancy?
what about from 1-4?
5-9, what jumps to a higher spot?
10-14, what pops up in this category that wasn’t there before?
Congenital malformations, disorders related to short gestation and low birth weight, SIDS.
same
unintentional injuries is the leading cause, then congenital malformations, then assault, then neoplasms
as you get older, neoplasms get to a higher spot
suicide.
what are we trying to do now in controlling RDS from happening?
delaying labor to have the lungs reach maturity
kids who recover from RDS have an increased risk for developing what?
patent ductus arterioles, intraventricular hemorrhage, and NECROTIZING ENTEROCOLITIS
What are the four time frames and spans for infant and childhood development?
1) neonatal period (first 4 weeks of life
2) infancy (first year of life)
3) age 1-4
4) age 5-14
How do ABO reactions work (this differs from Rh)
what baby is affected?
can we protect against it?
anti-a and anti-b antibodies do NOT cross the placenta
reaction can only occur if baby is group a and b and the mother has O.
some women that have O have IgG against A or B, so the firstborn may be affected.
no
Fibrous tumors:
1) what are the two types and what is is proliferating?
2) in the sarcoma one, what variant is it associated with?
3) why is this unique?
Fibromatosis –> proliferations of spindle-shaped cells
Congenital-infantile fibro-sarcomas –> richly cellular lesions indistinguishible to fibrosarcomas in adults
t(12;15)(p13;q25) translocation –> results in the generation of ETV6-NTRK3 fusion transcript –> constitutively active signaling oncogenic RAS and PI3K/AKT
WE can use this for diagnosis and it’s only in infantile fibrosarcomas!!
when is the embryo extremely susceptible to teratogenesis?
peak sensitivity?
between week 3 and 9 of embryogenesis.
fourth and 5th weeks
in hydrops associated with fetal anemia, what are characteristic morphologic signs?
1) color
2) enlargement of organs?
3) what do you see happening extramedullary? how does this show up on the blood counts? what is this called?
the fetus and placenta are pale
hepatosplenomegaly from cardiac failure and congestion
extra medullary hematopoeisis present in the liver, spleen, and lymph nodes –> this is why you see large numbers of immature cells (have nucleus still in them!!) in the peripheral circulation (erythroblastosis fetalis)
Wilms tumor:
Prevalance
1 in 10,000 children –> most common primary renal tumor of childhood and MOST COMMON pediatric malignancy in the US
what might present with someone who had a negative sweat test and a mild abnormal CFTR gene?
what about a positive sweat test and a severe Abnormal CFTR gene?
Nonclassic.. symptoms are mild but if you’re a male, azoospermia, absent vas deferens.
classical CF
How do we treat immune hydrops?
we use Rhesus immune globulin (RhIg) which has anti-D antibodies within 72 HOURS of delivery
Disruptions:
1) definition
2) how does this differ form malformations?
3) examples?
4) are these heritable?
develop from secondary destruction of an organ or body region that was previously normal.
this arises from EXTRINSIC disturbances in morphogenesis, not intrinsic.
Amniotic bands (bands that encircle, compress, or attach to parts of the fetus). this is caused by environmental disruptions.
NO, MOST ARE NOT HERITABLE
WAGR syndrome
1) what does it mean
2) where’s the deletion
3) what gene is associated
4) what is associated with the A in WAGR?
5) what risk do they have for wilms?
W-ilms, A-niridia, G-enital anomalies, mental R-etardation
germline deletions of 11p13
WT1
PAX-6 –> makes protein involved in development of the eyes, hence why no iris.
33%
What kind of individual suffers from “fetal growth restriction”
what contributions from the fetus can lead to this? what kind of FGR are they?
what contributions from the placenta can lead to this? what kind of FGR are they?
small for gestational age infants, they can be at term, but they are underground rather than immature.
chromosomal disorders, congenital anomalies, congenital infections –> proportionate… all their organs are small too.
uteroplacental insufficiency –> caused by umbilical-placental vascular anomalies (single umbilical artery), placenta prevue, thrombosis, infection, etc. —-> this is usually ASYMMETRIC with relative sparing of the brain.
Hemangioma:
1) what are they?
2) where are they located on children? and what do they look like? what are they referred as?
3) how do you get rid of them?
4) what can this lead someone to believe if you see a hemangioma?
5) if a CNS cavernous hemangioma runs in the family, what mutation could it be?
MOST COMMON TUMORS OF INFANCY –> capillary or cavernous
skin, particularly the face and scalp, where they produce flat to elevated irregular, red-blue masses… “PORT WINE STAINS.
most spontaneously regress
could be part of von Hippel-Lindau disease
mutation in one of three cerebral cavernous malformation (CCM) genes
in CF, anatomic changes are highly variable, however there is no effect on what?
sweat glands are morphologically UNAFFECTED.
Transplacental (Hematologic) infections
1) What type of infections are these usually?
2) how do they get in?
3) what specific virus is considered a transplacental infection? what does it have a tropism for? why is this important?
MOST parasitic and viral, but a few bacterial
get into the fetal bloodstream transplacentally via the chorionic villi
Parvovirus B19 “fifth disease of childhood” –> “slapped-cheek appearance” –> erythroid cells –> we can detect this early.
cancers of infancy and childhood differ biologically and histologically from their counterparts occurring later in life. what are the main differences?
Incidence and type of tumor
Histologic Features (blastoma and small round blue cells)
regression/differentiation
survival and cure
Wilms tumor:
1 what is the wilms tumor gene?
WT1
what’s the only safe way for babies to sleep?
what is the “missing link” associated in SIDS?
what maternal factor is consistency related to SIDS?
supine
laryngeal chemoreceptors –> this is unregulated by URIs, increasing the volume of secretions, and in the prone position this impairs swallowing or clearing an airway and INHIBITS THE CARDIORESPIRATORY REFLEX
smoking
what is the most common extra cranial solid tumor of childhood?
neuroblastoma
What is the “triple risk” model of SIDS?
intersection of 3 factors has highest risk
1) vulnerable infant –>
2) critical developmental period in homeostatic control
3) exogenous stressor –>
Cystic Fibrosis:
Incidence + genetics?
Complications associated with it’s gene’s abnormal function? (start from lungs and work your way down to genitals)
1 in 2500 –> most common lethal genetic disease affecting Caucasian populations.. AUTOSOMAL RECESSIVE
CFTR –> chronic lung disease secondary to recurrent infection, pancreatic insufficiency, steatorrhea, malnutrition, hepatic cirrhosis, intestinal obstruction, male infertility
4) the TORCH infections are common in what type of infections?
why are they grouped here?
Transplacental (hematologic) infections
they have similar clinical manifestations –> fever, encephalitis, chorioretinitis, HSM, pneumonitis, hemolytic anemia, vesicular or hemorrhagic skin lesions
what are the 3 major causes of non immune hydrops?
what virus is associated with it?
in Southeast Asia, severe fetal anemia is due to what? what does this mean?
what is the common disease it is seen in?
cardiovascular defects, chromosomal anomalies, and fetal anemia
cystic hygroma in turner syndrome
homozygous a-thalassemia –> most common cause of non-immune hydrops
parvovirus B19
Transcervical (Ascending) infections
1) typically what type of infections are these?
2) what are common ways in which this happens to babies?
3) what are the most common infections from inhalation?
MOST bacterial and a few viruses –> cervicovaginal route
gets it by inhaling infected amniotic fluid shortly after birth or by passing through an infected birth canal
Pneumonia, sepsis, meningitis
1) what are the two general principles of developmental pathology?
2) the first, explain both properties if damaged during these time points
3)
1 timing is incredibly important –> divided into embryonic period (first 9 weeks of pregnancy), and the fetal period ending at birth.
If you have damage at the early embryonic period (first 3 weeks), an injurious agent damages either enough cells to cause death and abortion or a few cells
in the fetal period, fetus is susceptible to growth retardation or injury to already formed organs.
Galactosemia:
1) what’s the problem (include most common and rare)
2) what builds up and where
3) what genotype
4) with this build up, what else happens because the enzyme isn’t working?
5) what problems do you see in people?
Galactose-1-phosphate uridyl transferase deficiency (GALT), or Galactokinase deficiency
galactose-1-phosphate builds up in the liver, spleen, lens of eye, kidney, heart, etc.
autosomal recessive
galactitol and galactonate production is increased
Liver, eyes, brain: hepatomegaly due to fatty change, looks like cirrhosis of alcohol… Opacification of the lens (cataract) develops due to buildup of galactitol and water…
CNS damage (loss of nerve cells, gliosis, edema in the DENTATE nuclei of the cerebellum and OLIVARY NUCLEI of medulla
CF, having a pancreatic problem would mean what for some vitamins? what can this do to the pancreas that’s already damaged?
what can be seen in severe cases with the pancreas?
loss of exocrine secretion impairs fat absorption, ADEK, which means that the vitamin A deficiency contributes to squamous metaplasia
the whole exocrine pancreas can be blocked, leading to atrophy, leaving only the islets within a fibrofatty stroma.
Cystic Fibrosis:
what does CFTR regulate? what clinical presentation can you see with these problems?
ENaC channels –> activity decreases on skin hence why you have super salty sweat, but works harder in the lungs and other places, meaning that it’s more dehydrated mucus and less watery in the organs –> hence why recurrent pulmonary infections
It also regulates transport of bicarbonate, so this would make stuff more acidic, which is why we get pancreatic insufficiency
what is an indicator of a fetal alcohol syndrome baby?
microcephaly, growth and mental retardation, ABSENT PHILTRUM
Neonates need oxygen when born with RDS, what are two possible complications associated with it?
high concentrations of oxygen for a long time leads to:
1) retrolental fibroplasia (retinopathy) –> two phases… too much oxygen = less VEGF so cell apoptosis, then returns to hypoxic –>leads to abnormal proliferation of fibrous tissue behind the eye –> blindness
2) bronchopulmonary dysplasia –> you have an increase in pro inflammatory cytokines like TNF, IL1, IL6 and IL8 that ARREST ALVEOLAR DEVELOPMENT
What is Neonatal Respiratory Distress Syndrome?
what is it also called? why?
what do patients present with? what is it STRONGLY associated with?
what do you see on X ray?
do they die?
hyaline membrane disease –> deposition of a layer of hyaline material in the peripheral airspaces of infants who have this. (atelectasis and dilation of the alveoli and eosinophilic thick hyaline membranes)
preterm but has weight appropriate for gestational age. MALE gender, MATERNAL DIABETES, and delivery by C-section.
after 30 minutes of them breathing they start having problems including cyanosis… retractions, tachypnea, grunting… low PaO2, high PaCO2
ground-glass appearance in the lungs
after 3-4 days of therapy, they have great prognosis.
SIDS:
when does it happen?
what is the most common finding on autopsy
leading cause of death between 1 month and 1 year, 90% of deaths in first 6 months, peaking at 2-4months
multiple petechiae found on the thymus, visceral and parietal pleura, and epicardium
What is the most serious threat in fetal hydrops?
what do you see?
CNS damage –> Kernicterus
the affected brain is enlarged and edematous and, when sectioned, has a BRIGHT YELLOW COLOR particularly at the basal ganglia, thalamus, cerebellum, spinal cord.
Lymphatic tumors:
what’s the type that is hemartomatous or neoplastic? What do they have that’s histologically characteristic? where are they found?
although they’re benign, when is it a problem?
what’s the other type of tumor
Lymphangiomas –> hamartomatous or neoplastic –> characterized by cystic and cavernous spaces –> seen in skin but more common in deep neck, axilla, mediastinum, retroperitoneal tissue.
if they grow onto vital structures like nerves in the mediastinum or trunks in the axilla
Lymphangiectasis –> other tumors that are abnormal dilations of preexisting lymph channels –> presents as diffuse swelling of part or ALL of an EXTREMITY.
What are the three most common organisms responsible for lung infections in CF individuals?
what infection has increasing frequency only in CF patients? (opportunistic)
S. aureus, H. Influenza, P. aeruginosa
Burkholderia cepacia (B. cenocepacia)
what are the malignant neoplasms that exhibit sharp peaks in incidence in children younger than age 10?
unfortunately there are 10
Leukemia (acute lymphoblastic leukemia)
neuroblastoma
Wilms tumor
Hepatoblastoma
Retinoblastoma
rhabdomyosarcoma
teratoma
Ewing sarcoma
posterior fossa neoplasms: juvenile astrocytoma, medulloblastoma, ependymoma
Beckwith-Wiedemann Syndrome?
what 5 things do they present with?
what is it an example of??
Organomegaly, macroglossia, hemihypertrophy, omphalocele, adrenal cytomegaly
GENOMIC IMPRINTING –> of the WT2 genes, imprinting abnormalities of IGF2 have the STRONGEST relationship to developing tumor predisposition.
Wilms Tumorr, what are the classic triphasic combination seen in most lesions?
5% show what?
blastemal, stromal, and epithelial cell types
anaplasia –> TP53 mutation and p53 protein problems.
