patau syndrome

Puberty (13), Election age (18), and Drinking age (21)

Puberty for Patau syndrome, caused by trisomy 13

Election for Edwards syndome, caused by trisomy 18

Drinking for Down syndrome, caused by trisomy 21

AND this list is in reverse order of frequency of trisomies resulting in live births (Down most common, then Edward, then Patau).

I always find this super difficult, but it turns out First Aid has a mnemonic for this.

My Uworld notes- 6
  • serum sickness is a type 3 HSR characterized by deposition of circulation complement fixing immune complexes and resulting vasculitis. Associated findings include fever, urticaria, arthralgias, glomerulonephritis, lymphadenopathy and a low serum c3 level 5-10 days after intravascular exposure to antigen. type 3 HSR typically activate complement at local site where immune complexes containing IgG and or IgM complement fixing antibodies have been deposited. This often results in hypocomplementemia including decreased C3 level

  • liver dz-a/w AFP

  • carcinoembryonic antigen (CEA) a/w colorectal cancer

  • CA125 -ovarian cancer. Both CEA and ca125 are fr monitoring purposes

  • PSA prostate specific antigen is most useful in establishing extent of prostate cancer and evaluating response to prostate cancer tx.

  • Iced water think cold – cold think cold agglutinins – cold agglutinin associated with infection with mycoplasma pneumonia

  • another cold agglutinin is EBV

  • free air in peritoneal cavity= bowel perforation

  • pancreatic calcification= chronic pancreatitis

  • heavily calcified vessels = atherosclerosis and vascular dz

  • distended bladder= urinary retention

  • air in billiary tract a/w gallstone ileus

  • fluoxetine a/w anorgasmia and decreased libido and increase latency to orgasm. They can however be used to tx premature ejaculation

  • phenelzine= MAO-I used in tx of depression monoamine oxidase is a mitochondrial enzyme that deaminates primary and secondary aromatic amines

  • tricyclic antidepressants can cause orthostatic hypotension example imipramine

  • trazadone- priapism

  • paroxysmal breathlessness and wheezing in young patient unrelated to ingestion of aspirin, pulmonary infection inhaled irritant stress and or exercise should raise a strong suspicion for extrinsic allergic asthma. The granule containing cells in sputum are most likely eosinophils and the crystalloid bodies are most likely Charcot Leyden crystals (contain eosinophil membrane protein)

  • chronic eosinophilic bronchitis in asthmatics involves bronchial wall infiltration by numerous activated eosinophils largely in response to IL5 released by TH2 cells

  • digestion and absorption of nutrients primarily occurs in small intestine. SI cells produce enzymes responsible for nutrient absorption. Proteins in ingested food exist primarily as polypeptides and require hydrolysis to dipeptides tripeptides and amino acid for absorption. Hydrolysis of these polypeptides is accomplished by proteolytic enzymes such as pepsin and trypsin

  • these enzymes are secreted inactive proenzymes trypsinogen and pepsinogen from stomach and pancreas

  • trypsin activates other proteolytics enzymes including chymotrypsin carboxypeptidase and elastase. Activation of trypsinogen to trypsin is achieved by enteropeptidase (or enterokinase)an enzyme produced in duodenum

  • enteropeptidase deficiency results in defective conversion of trypsinogen to active trypsin

  • lipase secreted from exocrine pancreas is the most important enzyme of digestion of triglycerides. Chronc pancreatitis is a painful condition that causes lipase deficiency. This leads to poor fat absorption and steatorrhea

  • secretin is a peptide hormone secreted by S cells of duodenum un response to low duodenal pH. Secretins timulates secretion of bicarbonate from the pancreas and gall bladder and reduces acid secretion in the stomach by reducing production of gastrin. Neutralizing the acidic pH of food entering the duodenum from the stomachis necessary for proper function of pancreatic enzymes (amylase, lipase)

  • trisomy 18 (47XX: Edwards syndrome

    • face: micrognathia, microstomia, eye defects (microphthalmis, cataracts) low set ears and malformed ears prominent occiput

    • CNS: microcephaly, neural tube defects (meningocele, anencephaly), holoprosencephaly, arnold chiri malformation, severe MR delayed psychomotor development

    • musculoskeletal: clenched hands with overlapping fingers (index finger overrides the middle fingerand fifth finger overrides the fourth finger) rocker bottom feet short sternum and hypertonia

    • cardiac: VSD, PDA

    • distinguishing features: clenched hands and or overlapping finger

    • GI: Meckel diverticulum, malrotation

    • ultrasound: intrauterine growth restriction and polyhydramnios especially ina fetus with abnormal hand arrangement

  • unlike patients with Edward’s syndrome neonates with Patau syndrome (trisomy 13) have cleft lip and palate, polydactyly and omphalocele. Patau syndrome is not a/w low set ears and overlapping fingers but do present with rocker bottom feet also

  • 47XXX karyotype is clinically silent however, some affected women have slightly decreased IQ scores. Female newborns with this karyotype are phenotypically normal with no obvious dysmorphism

  • 47XXY Kleinfelter’s syndrome: may be a/w mild mental retardation or normal intelligence. The typical patient is tall mall adult with gynecomastia small testes and infertility. Male newborns with this karyotype are phenotypically normal with no obvious dysmorphism. The clinical findings do not become apparent until adulthood.

  • Sudden onset of abdominal or flank pain hematuria and left sided varicocele together suggests renal vein thrombosis a well known complication of nephrotic syndrome. Nephrotic syndrome is a hypercoagulable state d/t increased loss of anticoagulant factors especially anti thrombinIII (responsible for the thrombotic and thromboembolic complications of nephrotic syndrome)

  • venous drainage from left testes travels throught the left testicular vein into the left renal vein and from there the IVC. In contrast to the right testicular vein which empties directly into the IVC. This difference in venous drinage gives diagnostic significance to left sided varicocele in that it often indicates an occlusion of the left renal vein by a malignant tumour or thrombus

  • malaise low grade fever followed by a facial rash. Feels better now but still has the rash- red flushed cheeks with – clinical presentation of erythema infectiosum aka fifth dz. As the facial rash fades an erythematous rash in reticular lace like pattern often appears on trunk and extremities. The rash of erythema infectiosum is thought to result at lest partly from local immune complex deposition once serum levels of virus specific IgM and IgG have attained high enough levels.

  • Erythema infectiosum= non enveloped DNA virus called parvo B19. The blood group P antigen globoside is a parvovirus B19 is highly tropic for erythrocyte precursors particularly erythrocytes and erythroid progenitor cells

  • Parvo B19 replicates predominantly in the bone marrow

  • anthracyclines daunorubicin doxorubicin epirubicin and idarubicin are chemotherapeutic agents a/w severe cardiotoxicity because of their unique ability to generate free radicals.. Dilated cardiomyopathy is dose dependent and may present months after discontinuation of the drug . Swelling of sarcoplasmic reticulum is the morphologic sign of early stage doxorubicin associated cardiomyopathy. Followed by loss of cardiomyocytes and its symptoms are those of biventricular CHF including dyspnea on exertion orthopnea and peripheral edema

  • dexrazoxane prevents Doxorubicin associated cardiomyopathy because dex is a iron chelating agent that decreases formation of free radicals by anthracyclines.

  • Restrictive cardiomyopathy a/w hemochromatosis amyloidosis sarcoidosis and radiation theraapy : remember -osis

  • hypertrophic cardiomyopathy caused by mutation of beta myosin heavy chain

  • focal cardiomyopathyscarring commonly results in MI

  • pericardial fibrosis usually follows cardiac surgery radiation therapy or viral infections of the pericardium

  • PCP aka angel dust aka phencyclidine commonly associated with violent behaviour

  • LSD can also cause aggressive behaviour but it is more typically characterized by affective liability thought disruption )delusion) and visual hallucination whereas PCP produces more psychomotor agitation including clonic jerking of extremities

  • angel dust can be put on marijuana and smoked LD is ingested orally

  • secobarbital is a street barbiturate a CNS depressant which leads to drowsy drunken state of consciousness without the violent behaviour

  • heroin (opioid) produces CNS psychomotor depression and respiratory depression miosis and bradycardia are common

  • dry tap with no splenomegaly or lymphadenopathy – think aplastic anemia which causes pancytopenia

  • aplastic anemia= hypo cellular bone marrow with fat cells and fibrotic stroma

  • hyper cellular marrow with increased blasts found in myeloproliferative d/o and certain leukemias

  • most common side effect of streptokinase= hemorrhage . Streptokinase is a thrombolytic agent that acts by converting plasminogen to plasmin which subsequently degrades fibrin. It is a foreign protein derived from streptococci and induce HSR.

  • Dissection of ascending aorta manifests as tearing chest pain that radiates to the inter-scapular area commonly occurs in hypertension marfans and ehlers danlos

  • hyperactive jaw jerk reflex when lightly tapped= chvostek’s sign- Hypocalcemic – facial m contraction elicited by tapping facial nerve just anterior to ear. The most common cause of outpatient hypocalcemia is primary hypoparathyroidism which is often d/t prior loss of parathyroid tissue during thyroidectomy

  • scotoma is visual defect that occurs d/t pathologic processes that involve parts of retina or optic nerve resulting in discrete area of altered vision surrounded by zones of normal vision. Lesions of macula cause central scotomas.. examples would include MS, diabetic retinopathy and retinitis pigmentosa

  • verapamil is a calcium channel blocker that slows SA and AV node phase 0 depolarization (in nodal cells, the phase of depolarization is mediated by calcium influx)

  • phase 0 depolarization of cardiac conduction system occurs during diastole thus verapamil slows diastolic depolarization

Patau syndrome/Trisomy 13

Trisomy 13 occurs when extra DNA from chromosome 13 appears in some or all of the body’s cells. This abnormal chromosome count interferes with development of certain organs such as the heart and kidneys. Similar to all nondisjunction defects (Down syndrome, Edwards syndrome), there is an increased likelihood for this syndrome when the mother is older, 31 years old average.

Symptoms:

  • Cleft lip/palate
  • Close set eyes (severe cases include Cyclopia)
  • Extra fingers/toes (polydactyly)
  • Hernias
  • Clenched hands
  • Low set ears
  • Skeletal abnormalities
  • Seizures
  • Coloboma (cleft in the iris)
  • Mental retardation