Advancements in Viral Gene Therapy for Gaucher Disease.

Gaucher disease, an autosomal recessively inherited lysosomal storage disorder, results from biallelic mutations in the gene resulting in deficient activity of the enzyme glucocerebrosidase. In Gaucher disease, the reduced levels and activity of glucocerebrosidase lead to a disparity in the rates of formation and breakdown of glucocerebroside and glucosylsphingosine, resulting in the accumulation of these lipid substrates in the lysosome. This gives rise to the development of Gaucher cells, engorged macrophages with a characteristic wrinkled tissue paper appearance.

Using CRISPR/Cas9 to identify genes required for mechanosensory neuron development and function.

Tunicates are marine, non-vertebrate chordates that comprise the sister group to the vertebrates. Most tunicates have a biphasic lifecycle that alternates between a swimming larva and a sessile adult. Recent advances have shed light on the neural basis for the tunicate larva's ability to sense a proper substrate for settlement and initiate metamorphosis.

Using CRISPR/Cas9 to identify genes required for mechanosensory neuron development and function.

Tunicates are marine, non-vertebrate chordates that comprise the sister group to the vertebrates. Most tunicates have a biphasic lifecycle that alternates between a swimming larva and a sessile adult. Recent advances have shed light on the neural basis for the tunicate larva's ability to sense a proper substrate for settlement and initiate metamorphosis.

Female rat transcriptome response to infraorbital nerve transection differs from that of males: RNA-seq.

The effects of infraorbital nerve (ION) transection on gene expression in the adult female rat barrel cortex were investigated using RNA sequencing. After a 24-hour survival duration, 28 genes were differentially regulated by ION transection. Differentially expressed genes suggest microglial activity, increased retrograde ciliary transport, and a decrease in inhibition.

Fetal intracranial calcification: pseudo-TORCH phenotype and discussion of related phenotypes.

Fetal intracranial calcification (ICC) noted during antenatal imaging poses a diagnostic challenge. Although this presentation is most commonly associated with intrauterine infection, non-infectious causes of fetal ICC have been reported and include metabolic, genetic, or hemodynamic conditions. We report on a patient with antenatally detected extensive ICC, in whom postnatal imaging revealed a distinctive band-like ICC with abnormal gyral pattern and a negative serology for TORCH infections.

Adams-Oliver syndrome: Additions to the clinical features and possible role of BMP pathway.

We report on a patient with Adams-Oliver syndrome, a condition characterized by scalp and limb defects. In addition we noted in our patient a significant delay in the bone age and an abnormal distal phalanx in one of her fingers manifesting clinically as a broad finger tip. Both these features hitherto unreported add to the phenotypic spectrum of the condition.

'Thinfat' phenotype in newborns.

Objective: The objectives of the study was to know whether the 'thinfat' phenotype exists in newborns, in Central Karnataka and to correlate various factors that contribute to this peculiar phenotype, with emphasis on genetic and maternal environmental factors.

Methods: For 1000 consecutive singleton term newborns, weight, length, head, mid arm, abdominal circumferences, biceps and subscapular skinfolds were measured at birth and compared with measurements of white Caucasian babies born in Southampton UK and Mysore babies at birth.

Results: The Davangere babies were significantly smaller in all measurements at birth (p < 0.

Kallmann's syndrome.

Kallmann's syndrome is a rare genetic disorder due to abnormal migration of olfactory axons and gonadotropin releasing hormone producing neurons, characterized by hypogonadism and anosmia. The prevalence of Kallmann's syndrome is 1:10,000 to 1:60,000 with a male to female ratio of 5:1. The inheritance of Kallmann's syndrome may be X-linked, autosomal recessive or autosomal dominant with variable penetrance, mutation involving KAL-1 and KAL-2 gene respectively.

Baseline Widal titres in healthy children.

Objective: To determine the baseline Widal titres in apparently healthy children in Davangere.

Methods: Cross-sectional study was done on 250 children. Widal titers were found using tube agglutination test.

Absence of Wharton's jelly around the umbilical arteries.

Wharton's jelly is a specialized tissue which acts as supportive and protective structure substituting for the adventitia of the umbilical vessels. Absence of Wharton's jelly around the umbilical arteries is very rare and an unusual cause of perinatal mortality. We report a case of absent Wharton's jelly around the umbilical arteries with patent vitellointestinal duct--a rare association.