Further genotype – phenotype correlations in neurofibromatosis 2

Selvanathan SK, Shenton A, Ferner R, Wallace AJ, Huson SM, Ramsden RT, Evans DG. Further genotype–phenotype correlations in neurofibromatosis 2. Neurofibromatosis 2 (NF2) is caused by mutations in the NF2 gene predisposing carriers to develop nervous system tumours. Different NF2 mutations result in either loss/reduced protein function or gain of protein function (abnormally behaving mutant allele i.e. truncated protein potentially causing dominant negative effect). We present a comparison between the clinical presentations of patients with mutations that are predicted to produce truncated protein (nonsense/frameshift mutations) to those that results in loss of protein expression (large deletions) to elucidate further genotype–phenotype correlations in NF2. Patients with nonsense/frameshift mutations have a younger age of diagnosis and a higher prevalence/proportion of meningiomas (p = 0.002, p = 0.014), spinal tumours (p = 0.004, p = 0.004) and non‐VIII cranial nerve tumours (p = 0.006, p = 0.003). We also found younger age of diagnosis of vestibular schwannomas (p = 0.007), higher mean numbers of cutaneous lesions (p = 0.003) and spinal tumours (p = 0.006) in these patients. With respect to NF2 symptoms, we found younger age of onset of hearing loss (p = 0.010), tinnitus (p = 0.002), paraesthesiae (p = 0.073), wasting and weakness (p = 0.001) and headaches (p = 0.049) in patients with nonsense/frameshift mutations. Our comparison shows, additional, new correlations between mutations in the NF2 gene and the NF2 disease phenotype, and this further confirms that nonsense/frameshift mutations are associated with more severe NF2 symptoms. Therefore patients with this class of NF2 mutation should be followed up closely.     

Sleep Deprivation Predisposes Gujarati Indian Adolescents to Obesity

Background and Aim:

Recent studies on various populations indicate that lack of sleep is one of the potential risk factors predisposing the youth to obesity. Since there is a significant rise in obesity among Indian youth and because research indicating the role of sleep in development of obesity among Indian population is scant, the current study was undertaken to assess the effect of sleep duration on adiposity among Gujarati Indian adolescents.

Materials and Methods:

A randomized cross-sectional study was done on 489 voluntarily participating Indian adolescents in the age group of 16-19 years. Participants were grouped into two categories 1). Adequate Sleep Duration at Night (more than seven hours, ASDN) and 2) Inadequate Sleep Duration at Night (less than seven hours, IASDN) as reported by the participants. The participants were later assessed for adiposity in terms of BMI, BF %, FM, FMI and waist circumference, meal frequency per day and physical activity status.

Results:

In both boys as well as girls, the BMI, BF%, FM and FMI were significantly lower in the ASDN group than the IASDN group. However, there was an insignificant difference in the meal frequency and physical activity status between the ASDN and IASDN group.

Conclusion:

Inadequate sleep duration increases adiposity among Gujarati Indian adolescents but further studies are required to find out the mechanisms through which sleep affects adiposity in this population.     

Efficacy and safety of Antarth for osteoarthritis

Gupta AK, Acharya K, Sancheti PS, Joshi RS. A double‐blind, randomized, multicentric, placebo‐controlled clinical trial of Antarth, a phytomedicine, in the treatment of osteoarthritis. Indian J Pharmacol 2011; 43: 69–72.