Pseudohypoparathyroidism is caused by target cell insensitivity to parathyroid hormone (PTH) due to a mutation in a …….. protein
G protein
Pseudohypoparathyroidism is typically inherited in what fashion
autosomal dominant fashion
differentiate between type 1 and type 2 pseudo hypoparathyroidism
In type I pseudohypoparathyroidism there is a complete receptor defect whereas in type II the cell receptor is intact
features of pseudohypoparathyroidism
short fourth and fifth metacarpals
short stature
learning difficulties
obesity
round face
bloods results in pseudohypoparathyroidism
↑ PTH
↓ calcium
↑ phosphate
how do you differentiate between type 1 and type 2 - investigations
an infusion of PTH followed by measurement of urinary phosphate and cAMP measurement - this can help differentiate between type I (neither phosphate or cAMP levels rise) and II (cAMP rises but phosphate levels do not change)
pathophysiology of rickets in children
inadequately mineralised bone in developing and growing bones
rickety rosary meaning
swelling at the costochondral junction
TGA pathophysiology AND RISK FACTOR
failure of the aorticopulmonary septum to spiral during septation.
Diabetic mom
clinical features of TGA
cyanosis
tachypnoea
loud single S2
prominent right ventricular impulse
ANATOMICAL CHANGES IN TGA
aorta leaves the right ventricle
pulmonary trunk leaves the left ventricle
X-ray findings in TGA
Egg on side appearance on CXR
MANAGEMENT TGA
maintenance of the ductus arteriosus with prostaglandins
surgical correction is the definite treatment.
Relapsing polychondritis
multi-systemic condition characterised by repeated episodes of inflammation and deterioration of cartilage. This most commonly affects the ears, however, can affect other parts of the body such as the nose and joints.
WHAT ARE THE FEATURES OF RELAPSING POLYCHONDRITIS
Ears: auricular chondritis, hearing loss, vertigo
Nasal: nasal chondritis → saddle-nose deformity
Respiratory tract: e.g. hoarseness, aphonia, wheezing, inspiratory stridor
Ocular: episcleritis, scleritis, iritis, and keratoconjunctivitis sicca
Joints: arthralgia
Less commonly: cardiac valcular regurgitation, cranial nerve palsies, peripheral neuropathies, renal dysfunction
Treatment of relapsing polychondritis
Induce remission: steroids
Maintenance: azathioprine, methotrexate, cyclosporin, cyclophosphamide
illness script of relapsing polychondritis
WHICH medication is contraindicated in Ventricular tachycardias
verapamil
A 64-year-old man is having a dual chamber pacemaker inserted. The ventricular lead is to be inserted via the coronary sinus. Where does the coronary sinus drain into
R atrium
The coronary sinus is a collection of veins joined together to form a large vessel that collects blood from the myocardium of the heart. It delivers less oxygenated blood to the right atrium, as part of the systemic circulation.
Catecholaminergic polymorphic ventricular tachycardia
form of inherited cardiac disease associated with sudden cardiac death. It is inherited in an autosomal dominant fashion and has a prevalence of around 1:10,000.
pathophysiology of CPVT
the most common cause is a defect in the ryanodine receptor (RYR2) which is found in the myocardial sarcoplasmic reticulum
Features of CPVT
exercise or emotion induced polymorphic ventricular tachycardia resulting in syncope
sudden cardiac death
symptoms generally develop before the age of 20 years
CPVT management
Management
beta-blockers
implantable cardioverter-defibrillator
