Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
16 Cards in this Set
- Front
- Back
|
Fragile X epi |
- 1 in 2500-4000 males and 1 in 7000-8000 females. Most common cause of inherited intellectual disabilty (IQ 20-70) + autism - Prevalence carrier status: 1 in 130-250 population; the prevalence of male carrier status is estimated to be 1 in 250-800 population |
|
|
Fragile X s/s |
Problems with: Development, Cognition, Neuropsychology (depression, anxiety, ADHD, autism, ODD, seizures), Musculoskeletal, Feeding, Toilet training, Sleep, Recurrent medical conditions (sinusitis, Otitis media, Dec. visual acuity, GORD) |
|
|
Fragile X MSK abnormalities |
Flat feet, pectus excavatum, joint laxity + dislocation, scoliosis. mitral prolapse |
|
|
Fragile X genetic definition |
- Defined by CGG repeats in FMR1 gene - 55-200 CGG repeats=premutation=> expand in future generations - People with premutation can develop fragile X - >200 CGG repeats = fragile X syndrome. no FMRP protein production |
|
|
Fragile X diagnosis |
Karyotype + PCR. >200 CGG repeats FMR1 gene |
|
|
Fragile X inheritance |
X linked dominant |
|
|
Edward's syndrome genetic abnormality |
Trisomy 18
|
|
|
Edward's syndrome epi |
- 1 in 6,000-8,000 live births - 1st tri screening, incidence:1 in 400, but due to high spontaneous loss, the birth prevalence is 1 in 6,500. - Approximately 80% of trisomy 18 cases occur in females.(Similar amount conceived, more males lost) |
|
|
Edward's syndrome morphology |
Severe psychomotor and growth retardation, microcephaly, microphthalmia, malformed ears, micrognathia or retrognathia, microstomia, distinctively clenched fingers |
|
|
Edward's syndrome s/s |
Apnoeic episodes, Poor feeding, marked failure to thrive, mental retardation, seizures, cardiac defects (mostly ventricular septal), |
|
|
Edward's syndrome prognosis |
- Newborns have a 40% chance of surviving to age 1 month - Infants have a 5% chance of surviving to age 1 year - Children have a 1% chance of surviving to age 10 years. |
|
|
Edward's syndrome prenatal signs |
- Disproportionately small placenta - Single umbilical artery - Intrauterine growth retardation - Weak fetal activity - Fetal distress - Maternal polyhydramnios possibly related to defective sucking and swallowing reflexes in utero - Oligohydramnios secondary to renal defects |
|
|
G6PD deficiency definition, epi, inheritance |
- Most common enzyme deficiency in humans - High prevalence in Africans, Asians, mediterraneans (gives partial protection against malaria) - X-linked recessive (boys mostly!) |
|
|
G6PD presentation |
- Neonatal unconjugated jaundice (haemolysis- treated with phototherapy) - Otherwise people experience episodes of brisk haemolysis (self limiting in 8-14 days) after eating broad beans or when exposed to certain infections or drugs (increased oxidative stress eg. ketoacidosis) - Haemolysis starts 24-72hrs after the trigger - Less commonly they have chronic haemolysis (causing non-spherocytic haemolytic anaemia blood picture) - Many are asymptomatic |
|
|
G6PD ix |
- Do gene testing: beutler test + quantitative assay of GPD activity - CBE + retics - LDH level - Serum haptoglobin level - Urinalysis for haematuria - Urinary haemosiderin - Peripheral blood smear (heinz bodies - denatured haemoglobin) |
|
|
G6PD mgmt |
- Most cases don't need mgmt because they are self limiting - Counselling to not eat broad beans + avoid precipitant drugs - If they have chronic haemolysis give daily folic acid |
