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Hypertrophic cardiomyopathy (HCM) is a genetic myocardial disease usually characterized by asymmetric ventricular septal hypertrophy. HCM is an important cause of sudden cardiac death in adolescents and young adults. We are presenting a case report, ten years boy came in emergency with sudden loss of consciousness (witness cardiac arrest). Child was revived after cardiopulmonary resuscitation a...

A 15-year-old boy with quadriplegia and facial dysmorphia was referred to the emergency room. This was his first episode of tetraplegia. One maternal uncle had exhibited the same manifestation 20 years before. Blood test revealed severe hypokalaemia and mild hypocalcaemia. The clinical diagnosis revealed an Andersen-Tawil syndrome. Molecular tools allowed us to make the diagnosis of familial hy...

During the reign of Arthur’s nephew Constantine, the Danish king Adelbriht, whohas conqueredNorfolk and the land fromColchester toHolland inLincolnshire, marries Orwain, the sister of King Edelsi, a Briton, who rules Lincoln and Lindsey and the land from Humber to Rutland. Their daughter Argentille becomes the ward of her uncle after the death of her parents, and Edelsi marries her off to a scu...

Mannan Chinnandi's father Mudharsonai was the ruler of a small area called Vellalur (Vellalur is town in Maellur taluka Madurai district). Eghuvaka Nachia born region Sirukudi. and Eghuvakka Nachiya get married. Both them have daughter named Karala Purantha Karuthavanam twins Peperumal Chinnandi. Nachiya's brothers give her some land as dowry during marriage. goes to cultivate given him by his ...

BACKGROUND The ATP7A gene encodes the ATP7A protein, which is a trans-Golgi network copper transporter expressed in the brain and other organs. Mutations in this gene cause disorders of copper metabolism, such as Menkes disease. Here we describe the novel and unusual mutation (p.T1048I) in the ATP7A gene of a child with Menkes disease. The mutation affects a conserved DKTGT1048 phosphorylation ...