Term
Downs Syndrome different causes on the chromosomal level what are they? |
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Definition
1 in 650 94% non disjunction 5% translocation 1% mosaicism |
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Term
translocational Down's syndrome what are the risks to the offspring? is parental chromosomal analysis needed? |
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Definition
when extra Ch21 joined to Ch14. parental chromosomal analysis is needed. this is not needed in non disjunction cases. 10-15% of reoccurrence is mum is translocation carrier 2.5% if father is carrier if parent carries the rare 21:21 translocation all offspring will have Down's if neither parent carries a translocation then <1% of reoccurrence |
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Term
which chromosomal translocation results in all offspring having Downs syndrome? |
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Definition
21:21 robertsonian translocation |
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Term
clinical features of edwards syndrome? |
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Definition
low birthweight small mouth and chin overlapping fingers rocker bottom feet cardiac and renal malformations |
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Term
clinical features of Patau |
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Definition
structural brain defects scalp defects small eyes cleft lip and palate polydactyly cardiac and renal malformations |
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Term
what syndrome is 22q11? what is 7q11 |
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Definition
22q11 is Digeorge 7q11 is Wiiliams |
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Term
examples of AD conditions |
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Definition
achondroplasia EDS Marfans HD neurofibromatosis Osteogenesis imperfecta Tuberous sclerosis polyposis coli noonans myotonic dystrophy familial hypercholesteremia otosclerosis |
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Term
name an x linked dominant inherited disorder? are males, females or both affected? |
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Definition
both males and females are affected in x linked dominant disorders e.g. Vit D resistant rickets |
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Term
what inheritance pattern does incontinentia pigment have? |
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Definition
x linked dominant. male lethality is expected so you will only see women who are alive with this condition. |
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Term
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Definition
CF congenital adrenal hyperplasia Friedrich ataxia galactosemia glycogen storage disorders PKU Sickle cell Tay sachs Thallasemia Werdnigg hoffman disease |
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Term
x-linked recessive disorders |
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Definition
colour blindness red-tree Duchenne and Beckers Fragile X G6PD Hemophilia A and B hunter syndrome (mucopolysacharidosis II) |
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Term
fragile X inheritence mutation which gene? |
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Definition
X linked recessive CGG trinucleotide repreat gene: FMR1 |
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Term
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Definition
macrocephaly macroorchidism long face large everted ears prominent mandible Mitral valve prolapse joint laxity scoliosis autism hyperactivity moderate-severe learning difficulty |
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Term
what does VACTERL association stand for? |
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Definition
vertrebal anomalies anal atresia cardiac defects tracheooEsophageal fistula renal anomalies limb defects |
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Term
how are syndromes recognised? |
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Definition
Gestalt clinical recognition |
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Term
define perinatal mortality rate |
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Definition
stillbirths and death within the 1st week per 1000 live births and still births
stillbirths: fetus born with no signs of life >24weeks gestation |
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Term
define neonatal mortality rate |
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Definition
deaths of live born infants within the 1st 4 weeks after birth per 1000 live births |
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Term
what is low birth weight? very low birth weight? |
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Definition
Low birthweight <2500g very low <1500g
extremely low <1000g |
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Term
define small for gestation and large for gestation |
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Definition
small <10th centime large >90th centile |
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Term
if a women is planning to get pregnant but is on retinoids, warfarin and sodium valproate what must happen before she gets pregnant? |
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Definition
she needs to stop these meds and be put on alternatives because they are teratogenic |
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Term
what side effects of prematurity can steroids given to the mother help reduce? |
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Definition
reduce RDS reduce intraventricular haemorrhage reduce neonatal mortality |
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Term
if the fetes has SVT what can be given to the mother to rx this? |
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Definition
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Term
what would you think if you saw free loops of small bowel in amniotic fluid during an USS? |
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Definition
you would think gastroschisis |
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Term
what is an abnormal lemon shaped skull together with an abnormal appearance of the cerebellum suggestive of? |
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Definition
Arnold-Chiari malformation. associated with spina bifida |
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Term
what happens to the insulin requirement in a diabetic pregnancy? |
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Definition
insulin requirements increase |
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Term
what malformations are infants born to diabetic mothers at particular risk for? |
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Definition
cardiac malformations sacral agenesis hypoplastic left colon |
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Term
baby diagnosed with neonatal lupus syndrome. she has a self limiting rash and heart block. which 2 antibodies would we expect baby to be positive for? |
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Definition
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Term
treatment for autoimmune thrombocytopenic purport in the infant? what are the complications? |
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Definition
Rx: iv immunoglobins if they have severe thrombocytopenia and petichiae complications: increase risk of intracranial haemorrhage following birth trauma |
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Term
what was diethylstilbestrol used for? what was a consequence of its use? |
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Definition
used for threaten miscarriage subsequently associated with clear cell adenocarcinoma of the vagina and cervix in female offspring. |
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Term
characteristic facies of feral alcohol syndrome? |
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Definition
saddle shaped nose maxillary hypoplasia absent philtrum thin upper lip |
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Term
what is phocomelia? which drug was this a consequence of in a lot of infants? |
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Definition
limb shortening consequence of mothers taking thalidomide for morning sickness during pregnancy. |
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Term
teratogenic effects of warfarin |
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Definition
interferes with cartilage formation (nasal hypoplasia and epiphyseal stippling) cerebral hemorrhages and microcephaly |
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Term
rubella
infection before how many weeks causes deafness, congenital heart disease and cataracts in 80%? |
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Definition
before 8 weeks
beyond 18 weeks the risk to fetes is minimal |
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Term
what is the most common congenital infection in the UK? |
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Definition
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Term
what is the rx for toxoplasma gondii in infected babies how long are they treated for? |
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Definition
Pyrimethamine and sulfadiazine
treated for 1 year |
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Term
what can asymptomatic toxoplasma gondii infected infants develop in adulthood? |
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Definition
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Term
when is a fetes at highest risk of getting varicella zoster infection? |
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Definition
if the pregnant mother develops chickenpox shortly before or after delivery. |
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Term
what does the APGAR score consist of? |
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Definition
heart rate resp effort muscle tone reflex irritability colour |
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Term
what does DOPE stand for in an intubated baby who is failing to increase their heart rate? |
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Definition
Displaced tube: in gullet or right main bronchus Obstruction: from meconium Patient: congenital malformations, pneumothorax, hypoplasia, asphyxia Equipment failure: gas supply exhausted or disconnected. |
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Term
in neonatal resus when should you start chest compressions? |
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Definition
when HR is <60bpm
the ratio is 3:1 compression to lung inflation
if after compression and adequate ventilation still <60 bpm give adrenaline IV 0.1ml of 1:10 000 |
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Term
preterm infants are particularly liable to hypothermia. in pre terms <30weeks what should we put them in? |
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Definition
put them in a plastic bag to keep warm. also when giving oxygen make sure to titrate the o2 according to their o2 sats as too much oxygen can cause tissue damage to brain lungs and eyes from oxygen free radicals |
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Term
what kind of growth restriction pattern would you see in utero placental dysfunction? what happens to these infants after birth? |
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Definition
asymmetrical growth restriction with head sparing. the placenta fails to provide adequate nutrition late in pregnancy but brain growth is relatively spared at the expense of liver glycogen and skin fat,
this type of placental dysfunction can be secondary to pre eclampsia, multiple pregnancy, maternal smoking or can be idiopathic. these infants rapidly put on weight after birth |
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Term
what does symmetrical growth restriction suggest? |
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Definition
prolonged period of poor growth starting in early pregnancy incorrect dates
these infants are more likely to remain small permanently due to small but normal fetes, maternal disease, drug use, alcohol use, chromosomal abnormalities, chronic medical condition or map nutrition |
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Term
what is the common rash that appears 2-3 days after birth. it has a white pin point papule at the centre of an erythematous base. the fluid contains eosinophils? |
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Definition
Neonatal urticaria AKA erythema toxicum |
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Term
what are port wine stains? |
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Definition
neavus flammeus - present from birth and grows with infant.
sturge-weber syndrome: port wine stain along trigeminal nervier distribution Klippel trenauny syndrome: severe lesions on limb with bone hypertrophy |
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Term
strawberry nevus features risks mx |
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Definition
AKA cavernous haemangioma not present at birth appears in 1st month of life more common in preterm increases in size until 3-15 months then gradually regresses no rx indicated unless severe can interfere with vision or airway. if so rx with systemic steroids or interferon-a ulceration, haemorrhage or thrombocytopenia may occur with large lesions |
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Term
the normal vitamin K injection is given IM. some mums want it to be given PO to their child. what must happen to the dose if we give it PO? |
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Definition
we need to give 3 doses over the 1st 4 weeks because oral absorption is variable. |
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Term
if a mother is on anticonvulsant therapy when should she receive Vitamin K prophylaxis? |
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Definition
Vit K prophylaxis Orally from 36 weeks gestation also baby should be given IM vitamin K after birth |
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Term
how is screening for CF performed in the Gutherie test? |
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Definition
tests fro serum immunoreactive trypsin. this is raised if there is pancreatic duct obstruction. if raised, DNA analysis also performed to reduce false positive rates. |
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Term
what test is used to check hearing in the newborn? |
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Definition
Evoke otoacoustic emission testing EOAE earphone placed over the ear and sound emitted. this evokes an echo or emission from the ear if the cochlear function is normal. |
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Term
what happens when the initial EOAE hearing test is abnormal? |
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Definition
test with automated auditory brainstem response (AABR) audiometry.
this uses computer analysis of EEG waveforms evoked in response to a series of clicks. if this is abnormal then refer to paediatric audiologist. |
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Term
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Definition
failure of gas exchange across placenta: prolonged uterine contractions, placental abruption, ruptured uterus interruption of umbilical blood flow: cord compression/prolapse inadequate maternal placental perfusion compromised fetus failure of cardiorespiratory adaptation at birth |
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Term
features of mild, moderate and severe HIE |
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Definition
mild: irritable, responds excessively to stimulation, staring eyes, hyperventilation, impaired feeding moderate: tone and movement abnormalities, cannot feed and may have seizures severe: no normal spontaneous movements/response to pain. limb tone may fluctuate between hypo and hypertonia. prolonged seizures that are often refractory to rx multi organ failure is present. |
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Term
how can the neuronal damage in HIE manifest? |
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Definition
it can immediate from the primary neuronal death or may be delayed from repercussion injury. |
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Term
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Definition
infants with HIE may need:- respiratory support record amplitude integrated EEG to detect abnormal background activity treat seizures with anticonvulsants fluid restriction because of transient renal impairment rx of hypotension by volume and inotropic support monitoring and rx hypoglycemia and electrolyte imbalances especially hypocalcemia.
cooling the infant within 6 hours of birth and causing mild hypothermia can reduce brain damage. 33-34 degrees for 72 hours. |
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Term
an infant who suffered HIE has an MRI brain scan at 10 days. what signs on the scan would suggest a high chance of cerebral palsy development in the infant? |
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Definition
bilateral abnormalities in basal ganglia and thalamus lack of myelin in posterior limb of internal capsule |
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Term
describe capput succedaneum, cephalhematoma and chignon |
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Definition
caput succedaneum: bruising/oedema of presenting part that crosses suture lines and resolves over a few days
cephalhematoma: bleeding below periosteum confined within suture lines.hematoma has a soft centre. resolves over couple weeks
chignon: oedema/bruising caused by ventouse |
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Term
on examination of a new born there is a diffuse boggy swelling of scalp. what could this be? |
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Definition
a subaponeurotic hemorrhage |
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Term
respiratory distress syndrome AKA hyaline membrane disease due to a deficiency is what? what is given to mother antenatally if baby premature? RDS more common in infants < how many weeks? more common in boys or girls? which pneumocytes secrete surfactant? |
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Definition
surfactant deficiency mother given steroids more common in those born < 28 weeks more common in boys type II pneumocytes secrete surfactant |
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Term
signs of RDS they develop at delivery or within 4 hours of birth |
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Definition
tachypnoea >60 breaths/min laboured breathing: chest wall recession, nasal flaring expiratory grunting: to create positive airway pressure and maintain residual volume cyanosis if severe apnoea |
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Term
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Definition
clear airway high flow humidified o2 therapy CPAP mechanical ventilation |
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Term
when does sucking and swallowing develop in the fetes? |
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Definition
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Term
what does CXR in RDS show? |
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Definition
diffuse granular or ground glass appearance of the lungs heart border becomes indistinct or obscured completely with severe disease. |
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Term
what complication occurs in 10% of infants that are ventilated for RDS? |
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Definition
PNEUMOTHORAX
breath sounds and chest movement on affected side are reduced |
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Term
in which area of the brain do pre term haemorrhages usually occur? |
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Definition
in the germinal matrix above the caudate nucleus. there is a network of blood vessels there. if the bleed is confined to this area then the risk of cerebral palsy is not increased most haemorrhages occur within the 1st 72 hours of life. |
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Term
if bilateral multiple cysts called periventricular leukomalacia are present what is the risk of cerebral palsy? is there a specific type this predisposes to? |
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Definition
80-90% risk of cerebral palsy spastic diplegia |
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Term
if you see dilated lateral ventricles in a cranial ultrasound of a preterm what would you think?
what if you saw widespread cysts around the lateral ventricles of the brain?? |
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Definition
dilated ventricles may be due to intra ventricular haemorrhage
multiple bilateral cysts suggest periventricular leukomalacia |
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Term
features of necrotising enterocolitis |
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Definition
affects preterm babies in 1st few weeks of life affects those who are fed cows milk rather than breast milk only due to bacterial invasion of ischemic bowel wall. infant doesnt tolerate feeds, distended abdomen with tense shiny skin over abdomen, blood in stools and bile stained vomit can lead to bowel perf. xr: distended loops of bowel, thickened bowel walls and intramural gas. Rx: stop oral feeds, broad spec Abx complications: strictures and malabsorbtion in the future |
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Term
define bronchopulmonary dysplasia |
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Definition
infants who still have an oxygen requirement at a post gestational age of 36 weeks. also called chronic lung disease. cxr: widespread areas of opacification sometimes with cystic changes. |
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Term
what is palivizumab? when is it given? |
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Definition
Monoclonal antibody against RSV given to preterm infants with bronchiolitis to reduce the need for hospitalisation |
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Term
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Definition
due to unconjugated br crossing BBB depositing in basal ganglia and brainstem nuclei there is lethargy, poor feeding, increased muscle tone, seizures and coma.
those who survive may develop choreathethoid cerebral palsy due to damage in basal ganglia, sensorineural deafness and learning difficulties. |
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Term
what is deficient or absent in Criggler-Najjar syndrome? |
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Definition
the enzyme glucuronyl transferase. this is the enzyme that conjugates the billirubin |
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Term
how long must you have jaundice for before it is classed as prolonged neonatal jaundice? |
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Definition
> 2 weeks or 3 weeks if preterm |
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Term
causes of prolonged jaundice? |
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Definition
breast milk jaundice infection esp UTI congenital hypothyroidism |
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Term
stap epidermis is a coagulase negative staphyloccocus. which Abx can be used for this? |
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Definition
Vancomycin: it is used for coagulase negative staphy or enterococci |
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Term
what does prolonged use of broad spec Abx in premature infants predispose them to? |
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Definition
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