A 10 yr old ♂️ with congenital bilateral sensorineural deafness ,life-long history of seizures and recurrent syncope. ECG done showed 👇 What is the diagnosis? Treatment? #MedTwitter #MedEd #FOAMed #MedX #CardioTwitter #Heart #Health #Clinical #Medical #genetic #Medicine

Itebimien Peter Journal of Brown Hospital Medicine André Martin Mansoor Dr Joshua Walinjom Andreas Roeschl, MD Dr. Akhil 🇮🇳 Keith Siau 𝗡𝗶𝗵𝗮𝗿 𝗗𝗲𝘀𝗮𝗶 MD, DM Nico Gagelmann Sam Ghali, M.D. Modern Health Congenital Long Qt synd B blockers

Itebimien Peter Journal of Brown Hospital Medicine André Martin Mansoor Dr Joshua Walinjom Andreas Roeschl, MD Dr. Akhil 🇮🇳 Keith Siau 𝗡𝗶𝗵𝗮𝗿 𝗗𝗲𝘀𝗮𝗶 MD, DM Nico Gagelmann Sam Ghali, M.D. Modern Health 🗣:🇺🇸/👥️:👨‍⚕️🩺 🤔 Jervell and Lange–Nielson syndrome - Autosomal recessive transmission - Congenital deafness - w or w/o seizures heart.bmj.com/content/108/5/…

Itebimien Peter Journal of Brown Hospital Medicine André Martin Mansoor Dr Joshua Walinjom Andreas Roeschl, MD Dr. Akhil 🇮🇳 Keith Siau 𝗡𝗶𝗵𝗮𝗿 𝗗𝗲𝘀𝗮𝗶 MD, DM Nico Gagelmann Sam Ghali, M.D. Modern Health Jervell Lange Nielson syndrome, a Long QT syndrome that genetically overlaps with the much more common Romano Ward syndrome, it's due to acquiring two loss of function variants in either KCNQ1 or KCNE1

12 yr old school girl has Painful lesions on back,hands and legs 🦵. Diagnosis ?? #MedTwitter #MedEd Dr Ihab Suliman Sthanu Itebimien Peter Scott C. Howard dr. s!r££n 🕊 Keith Siau Nico Gagelmann 𝗡𝗶𝗵𝗮𝗿 𝗗𝗲𝘀𝗮𝗶 MD, DM Maedeh Zokaei Nikoo Sanjay k Yadav MCh, FACS Sharad Mutalik dermRounds JAMA Dermatology

Cleft lip and palate A cleft lip contains an opening in the upper lip that may extend into the nose.The opening may be on one side, both sides, or in the middle.  A cleft palate occurs when the palate (the roof of the mouth) contains an opening into the nose. The term orofacial

Jervell and Lange-Nielsen syndrome (JLNS) is a rare type of long QT syndrome associated with severe, bilateral sensorineural hearing loss.Those with JLNS are at risk of abnormal heart rhythms called arrhythmias, which can lead to fainting, seizures, or sudden death.  In those

Hepatic encephalopathy is a syndrome usually observed in patients with cirrhosis. Hepatic encephalopathy is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, after exclusion of brain disease. Hepatic encephalopathy is characterized by

The National Institutes of Health Stroke Scale(NIHSS) is used to assess and quantify neurological deficit following stroke. Questions 1.1a. Level of Consciousness 0 = Alert 1 = Not alert; aroused with minor verbal stimulation 2 = Not alert; requires strong or painful stimulation

A 32 yo woman presents w/ episodic ataxia x15 years. The episodes happen after eating cookies or candy. Her 8 yo daughter has intellectual disability & epilepsy that has improved w/ ketogenic diet. Deficiency of which enzyme likely explains their presentation? #GeneChat

Head CT done to a 75 years old male because increased urinary frequency and gait abnormalities, What is the diagnosis ❓👀👀 Interesting 🧐

Water deprivation test for diabetes insipidus This test is the standard physiological test of vasopressin secretion. The patient is observed,without access to water,with serial measurements of plasma and urine osmolality,urine volumes and body weight for 8hrs; if this is