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.     

Seroprevalence of HIV infection among leprosy patients in Agra, India: trends and perspective

This study compares the results of HIV seroprevalence, which was carried out in two phases, i.e., 1989 to 1993 and 1999 to 2004. Although the number of leprosy patients screened for HIV infection in the second phase is less (2125) as compared to those screened during the first phase (4025), a rise in HIV infection from 0.12% to 0.37% is certainly disturbing since this area appears to be endemic for both the infections. During the study period, the Out Patient department attendance of a few types of leprosy patients like borderline and borderline lepromatous have risen, whereas others like borderline tuberculoid and polar tuberculoid have declined in the second phase as compared to that of the first phase. The trend over a decade suggests that HIV infection is low among the leprosy patients when compared with other risk groups. Follow-up of these patients at an interval of six months, revealed that none of them downgraded into a severe form of leprosy nor developed ARC or AIDS. In this study, it appears that neither infection precipitated the other. The occurrence of downgradation as well as reversal reactions and neuritis (both chronic and acute) was not observed among the leprosy patients. None of them developed erythema nodosum leprosum reactions. Similarly, the HIV-positive leprosy cases did not develop either AIDS related complex (ARC) or full blown case of AIDS.     

A Laboratory Investigation into Oviposition Responses of Aedes aegypti to Some Common Household Substances and Water from Conspecific Larvae

Background

The surveillance of Dengue vector – Aedes aegypti, is routinely done by using ovitraps (a dark container filled with water and a wooden paddle/towel cloth provided as a oviposition substrate), which indicates the extent of Aedes activity in an area.

Method

The study evaluated the oviposition responses of laboratory bred gravid Aedes aegypti to commonly available household substances by use of ovitrap method.

Results

Oviposition avoidance or deterrence was exhibited by gravid Aedes to ovitraps baited with salt, fenugreek, vinegar, lime juice, hibiscus leaves, radish and curry leaves, whereas positive oviposition response was noticed to waters from conspecific (of the same species) larvae and cumin seeds baited ovitraps.

Conclusion

The study findings may be utilized by researchers for further chemical analysis of the active ingredients of the substances found promising with a view to explore the possibility of their use by community and individuals for Aedes surveillance and control.Key Words: Aedes, Dengue, Oviposition deterrence/attraction     

Clinico-Hematological profile of congenital leukemia

Congenital leukemia is a rare disorder that usually presents with extramedullary infiltrates and myeloid phenotype in 80% cases. The authors present 4 cases of congenital leukemia diagnosed over 11 year period, three of which were of acute lymphoid leukemia and one was of biphenotypic leukemia.