A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2

BACKGROUND AND PURPOSE: Autosomal recessive cerebellar ataxias constitute a highly heterogeneous group of neurodegenerative disorders. This study was carried out to determine the clinical and genetic causes of ataxia in two families from Pakistan. METHODS: Detailed clinical investigations were carried out on probands in two consanguineous families. Magnetic resonance imaging was performed. Exome sequencing data were examined for likely pathogenic variants. Candidate variants were checked for cosegregation with the phenotype using Sanger sequencing. Public databases including ExAC, GnomAD, dbSNP, and the 1,000 Genome Project as well as ethnically matched controls were checked to determine the frequencies of the alleles. Conservation of missense variants was ensured by aligning orthologous protein sequences from diverse vertebrate species. RESULTS: Reverse phenotyping identified spinocerebellar ataxia, autosomal recessive 1 [OMIM 606002, also referred to as ataxia oculomotor apraxia type 2 (AOA2)] and ataxia telangiectasia (OMIM 208900) in the two families. A novel homozygous missense mutation c.202 C>T (p.Arg68Cys) was identified within senataxin, SETX in the DNA of both patients in one of the families with AOA2. The patients in the second family were homozygous for a known variant in ataxia-telangiectasia mutated (ATM) gene: c.7327 C>T (p.Arg2443Ter). Both variants were absent from 100 ethnically matched control chromosomes and were either absent or present at very low frequencies in the public databases. CONCLUSIONS: This report extends the allelic heterogeneity of SETX mutations causing AOA2 and also presents an asymptomatic patient with a pathogenic ATM variant.

A Novel APTX Variant and Ataxia with Oculomotor Apraxia Type 1

No abstract available.

Acoustical behavior of some amino acids in aqueous disodium citrate solutions over temperature range [298.15-313.15] K

Sound velocity, U, and density,Rho, of some amino acids viz. glycine, methionine, phenylalanine and tryptophan were determined in 0.1, 0.2 and 0.3 mol kg[-1]aqueous disodium citrate solutions as a function of concentration at 298-313.15K using DSA 5000M. The experimental data were further used to compute various acoustical parameters such as adiabatic compressibility, beta, apparent molar compressibility, phi[k], partial molar compressibility, phi°[k], transfer adiabatic compressibility, phi[ktr] constant, S[k], and the hydration number, n[h]- The transfer adiabatic compressibility shows the supremacy of hydrophilic-ionic interactions under hydrophobic-ionic interactions. The above-mentioned parameters are relevant for the efficiency of mediation in pharmacology and can be interpreted in terms of structure-making or structure-breaking ability of these amino acids in the solution

Contribution of GLC3A locus to primary congenital glaucoma in Pakistani population

To check the contribution of GLC3A locus to primary congenital glaucoma in the Pakistani population. We enrolled twenty-nine sporadic cases and three families with multiple individuals affected with recessive primary congenital glaucoma in the year 2013. It was a genetic linkage study accomplished jointly in Department of Biotechnology of Lahore College for Women University and School of Biological Sciences, University of the Punjab, Lahore. Samples from all affected individuals were checked for homozygosity for alleles of microsatellite markers spanning CYP1B1 at GLC3A locus. Genotyping was performed with fluorescently labeled primers by capillary electrophoresis. For familial cases, linkage was evaluated by checking the co-segregation of the phenotype with the genotypes. Two-point LOD score was calculated for each microsatellite marker with MLINK. Our study revealed that GLCA3 may contribute to glaucoma in 17% of the sporadic cases and patients in 2 of the 3 families. This data suggests that the GLC3A may make an important contribution to autosomal recessive primary congenital glaucoma in the Pakistani population. Genotyping and Sequencing of more families will be helpful to identify the common mutations in CYP1B1 in future

Compositional studies and Biological activities of Perovskia abrotanoides Kar. oils

BACKGROUND: Current study has been designed to evaluate the chemical composition of essential and fixed oils from stem and leaves of Perovskia abrotanoides and antioxidant and antimicrobial activities of these oils. RESULTS: GC-MS analysis of essential oil identified 19 compounds with (E)-9-dodecenal being the major component in stem and hexadecanoic acid in leaves. In contrast, GC-MS analysis of fixed oil showed 40 constituents with α-amyrin the major component in stem and α-copaene in leaves. The antioxidant activity showed the highest value of 76.7% in essential oil from leaves in comparison with fixed oil from stem (45.9%) through inhibition of peroxidation in linoleic acid system. The antimicrobial assay tested on different microorganisms (e.g. E. coli, S. aureus, B. cereus, Nitrospira, S. epidermis, A. niger, A. flavus and C. albicans) showed the higher inhibition zone at essential oil from leaves (15.2 mm on B. cereus) as compared to fixed oil from stem (8.34 mm onS. aureus) and leaves (11.2 mm on S. aureus). CONCLUSIONS: The present study revealed the fact that essential oil analyzed from Perovskia abrotanoides stem and leaves could be a promising source of natural products with potential antioxidant and antimicrobial activities, as compared to fixed oil.

Diabetes mellitus; incidence of chronic hepatitis C patients

Hepatitis C virus [HCV] is a major cause of chronic liver disease, cirrhosis and hepatocellular carcinoma [HCC]. HCV infection and type 2 diabetes are two common disorders with a high impact on health worldwide. There is growing evidence to support the concept that HCV infection is a risk factor for developing type 2 Diabetes Mellitus. Both insulin resistance and diabetes can adversely affect the course of chronic hepatitis C, and lead to poor response to antiviral therapy and increased incidence of Hepatocellular carcinoma. The objective of the study was to assess the frequency of type 2 Diabetes mellitus in newly diagnosed chronic hepatitis C patients presenting in Allied hospital Medical unit II during six month period. Cross sectional study. Medical unit-II, Allied Hospital, Faisalabad. 01-08-2009 to 28-02-2010. All newly diagnosed patients of chronic hepatitis C on the basis of PCR for HCV-RNA were included in the study. Fasting and two hours postprandial blood sample were tested. Diabetes Mellitus was labeled as per slandered. Out of 180 patients with CHC 19 [10.6%] were found to have Diabetes mellitus while 161[89.4%] were non-diabetics. There is close association in the development of type 2 diabetes mellitus in patients with chronic hepatitis C

Hyperreactio luteinalis associated with pregnancy induced hypertension

This is a unique case of hyperreactio luteinalis associated with partial HELLP syndrome, chronic superimposed hypertension, and intrauterine growth restriction. The cysts were managed conservatively. A caesarean section was performed at 34 weeks due to the deterioration of liver function tests, and intrauterine growth restriction. Multiple tissue biopsies of the ovaries were taken which showed theca leutein cysts. Her postoperative recovery was uneventful. The size of the cysts subsequently regressed to normal in 3 months postpartum