Development of renewable energy fed three-level hybrid active filter for EV charging station load using Jaya grey wolf optimization.

This work develops a hybrid active power filter (HAPF) in this article to operate in conjunction with the energy storage system (ESS), wind power generation system (WPGS), and solar energy system (SES). It employs three level shunt voltage source converters (VSC) connected to the DC-bus. Optimization of the gain values of the fractional-order proportional integral derivative controller (FOPIDC) and parameter values of the HAPF is achieved using the Jaya grey wolf hybrid algorithm (GWJA).

Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.

Acid sphingomyelinase (ASM)-deficient Niemann-Pick disease is an autosomal recessive lysosomal storage disorder caused by biallelic mutations in the SMPD1 gene. To date, around 185 mutations have been reported in patients with ASM-deficient NPD world-wide, but the mutation spectrum of this disease in India has not yet been reported. The aim of this study was to ascertain the mutation profile in Indian patients with ASM-deficient NPD.

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

Background: Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and a distinctive mid-hindbrain malformation. JS demonstrates substantial phenotypic variability and genetic heterogeneity. This study provides a comprehensive view of the current genetic basis, phenotypic range and gene-phenotype associations in JS.

Prevention of perinatal group B streptococcal infections: a review with an Indian perspective.

Group B Streptococcus (GBS) is an important cause of maternal and neonatal morbidity and mortality in many parts of the world. Asymptomatic colonisation of the vagina and rectum with Group B streptococci is common in pregnancy. Maternal colonisation of GBS can vary depending on ethnicity and geographical distribution.

EVA copolymer matrix for intra-oral delivery of antimicrobial and antiviral agents.

Biocompatible ethylene vinyl acetate copolymer (EVA) was utilized to study the release of an antiviral drug (acyclovir (ACY)) and an antimicrobial drug (doxycycline hyclate (DOH)). Release of both drugs from EVA was measured individually and in combination. The effect of drug combination of DOH and ACY is presented.

Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18.

We report a recurrent partial monosomy of 18p10-->11.2 and proximal partial trisomy of 18q10-->21.3 caused by a maternal pericentric inversion of chromosome 18, involving breakpoints p11.

Familial (9;11)(p22;p15.5)pat translocation and XX sex reversal in a phenotypic boy with cryptorchidism and delayed development.

We describe a patient with the co-occurrence of a familial 9;11 reciprocal translocation and an XX sex reversal. The patient had cryptorchidism, delayed development, dysmorphic features and attention deficiency hyperactive disorder (ADHD). The proband's karyotype was 46,XX,t(9;11)(p22;p15.

De novo pericentric inversion of chromosome 4, inv(4)(p16q12) in a boy with piebaldism and mental retardation.

An 8-year-old boy who was diagnosed to have piebaldism had moderate growth and mental retardation. Chromosome analysis from peripheral blood showed pericentric inversion 4(p16q12). The inversion was further confirmed by fluorescence in situ hybridization using whole chromosome painting and centromeric probes.

Familial (11;21)(p13;q22)pat balanced reciprocal translocation in a female child with regression of milestones.

The role of balanced translocations in the human morphogenesis is difficult to interpret. A balanced reciprocal translocation (BRT) was observed in a female child referred with a history of regression of milestones. The cytogenetic findings by GTG-banding and fluorescence in situ hybridization revealed a BRT involving chromosomes 11p and 21q, i.