Gen med Flashcards
Peutz-Jeghers syndrome
Autosomal dominant
Numerous small bowel polyps
Pigmented lesions on lips palms soles
Conservative unless develop complications
Hodgkins lymphoma
30s mostly males
supraclavicular rubbery lump sometimes pain on alcohol consumption
B sx present
bells palsy
rx with high dose pred if present within 72 hrs of sx onset
Von willebrand
Prolonged aptt
Normal pt
Abnormal platelet aggregation
Von Willebrand factor is crucial for platelet adhesion and stabilization of Factor VIII, explaining both the impaired platelet aggregation and the mildly reduced Factor VIII level
Tetanus vaccine
a patient has had 5 doses of tetanus vaccine, with the last dose < 10 years ago, they don’t require a booster vaccine nor immunoglobulins, regardless of how severe the wound is
food allergies
oral food challenge is gold standard lX
skin prick for mast cell activity in IgE specific
BRACA1/2 gene
in men associated with pancreatic, melanoma, breast and prostate cancer
greatest ethnicity carrier is jewish
X linked recessive
if woman is a carrier - 50% change giving abnormal gene to be carrier or not
boys tend to be affected only
Wegeners
granulomatosis with polyangiitis (GPA, formerly Wegener’s). The patient’s recurrent sinusitis, respiratory symptoms, cavitary lung lesions, and systemic features such as weight loss are characteristic of GPA
Ix - ANCA
SLE
anti DsNA
Sjögren’s syndrome
Ix - Anti-Ro (SSA) and anti-La (SSB) antibodies
dry eyes (keratoconjunctivitis sicca), dry mouth (xerostomia), and systemic features like fatigue and joint pain.
Balanitis (irritated foreskin)
if non-specific dermatitis causing balanitis Rx:
topical hydrocortisone 1% once daily and an imidazole cream
hypermobilty
assess by beighton score
rheumatoid arthritis
initially managed with methotrexate and prednisolone
T2dm starting insulin
Neutral Protamine Hagedorn (NPH) insulin [also known as isophane insulin] (injected once or twice daily according to need) should be offered.
NPH plus a short-acting insulin should be considered (particularly if the person’s HbA1c is 75 mmol/mol [9.0%] or higher). This may be administered either separately or as a pre-mixed (biphasic) human insulin preparation.
menstrual migraine
porphylaxis frovotriptan or zolmitriptan first line
tumour markers
Ca15-3 breast cancer
S100 melanoma, schwannomas
AFP liver cancer, teratoma
HCG + AFP - non seminamatous testicular cancer
bombesin small cell lung cancer, gastric cancer, neuroblastoma
osteoporosis
They recommend continuing therapy bisphosphonates in those over 75, those with previous hip or vertebral fracture, those with any low trauma fracture while on treatment, or those continuing on steroid therapy.
otherwise reassess every 5 yrs iwth dexa
