Magnetic resonance urography in obstructive uropathy

Background: Urinary obstruction is one of the few reversible causes of renal failure. Early diagnosis and treatment can salvage the kidney. Presently intravenous urography, ultrasonography, computed tomography and magnetic resonance imaging are in vogue to detect the cause and demonstrate the site of obstruction.     

"A Free thenar flap – A case report"

We present a case report of a free thenar flap surgery done for a volar right hand middle finger, distal and middle phalanx degloving injury. A free thenar flap is a fasciocutaneous sensate flap supplied by a constant branch of the superficial radial artery and its variable nerve supply. It has a distinct advantage of low donor site morbidity, better cosmesis and texture of the flap. No immobilization is required postop. The donor site can be closed primiarily.     

Parental SCN1A mutation mosaicism in familial Dravet syndrome

Different SCN1A mutations are known to cause a variety of phenotypes, such as generalized epilepsy with febrile seizures plus (GEFS+), Dravet syndrome and familial hemiplegic migraine (FHM). In Dravet syndrome, most mutations are de novo and familial cases are rare. In this study, Dravet syndrome is observed in two maternal half sisters. They have healthy fathers and their common mother has never experienced seizures, but has a lifelong history of migraine. Direct sequencing of DNA extracted from blood revealed a heterozygous SCN1A nonsense mutation c.3985C>T in the sisters, but not in the mother. The mutation induces a premature stop codon and probably leads to a non-functional protein. Further examination of the mother's DNA showed that she has a mosaicism of the mutation. This report of parental SCN1A nonsense mutation mosaicism in familial Dravet syndrome suggests that mosaicism might be more common than previously suspected and emphasizes the importance of taking mosaicism into account in genetic counselling of Dravet syndrome and SCN1A mutations. Furthermore, whether the migraine of the mother could be influenced by her SCN1A mutation mosaicism is not known, but increased awareness of migraine in future studies of SCN1A related epilepsies could clarify this intriguing link between migraine and epilepsy.     

Hepatitis B e antigen negative chronic hepatitis in Indian patients : A reality

Background: Hepatitis B e antigen negative chronic hepatitis (e⁻ CHB) with detectable levels of hepatitis B virus DNA (HBV DNA) in serum has been reported in cases from Asia. This study was undertaken to find out prevalence e⁻CHB and to correlate its presence with the clinical status and severity of the illness in cases of chronic liver disease in India.