Histopathological spectrum of gastric biopsies in a tertiary care hospital

This study was carried out to determine the histopathological spectrum of gastric lesions at a tertiary care hospital. A retrospective study. This study was conducted at Dr. Tahir Laboratory from Gastroenterology unit of Hamdard University Hospital Karachi from July 2009 to August 2012. The gastric mucosal biopsies of 280 patients received at Dr. Tahir Laboratory from Gastroenterology unit of Hamdard University Hospital Karachi. A slight higher frequency of gastric disease seen in females with age range of 17 years to 78 years was observed. The clinical presentations mostly seen were abdominal pain, dyspepsia, vomiting, diarrhea, decreased appetite and weight loss. The histopathology revealed chronic active gastritis [H Pylori positive and negative] followed by malignant gastric ulcer. A number of biopsies were unremarkable histologically. The more prevalent lesions in this series were chronic active gastritis. H. pylori associated gastritis was seen in majority of the patients. Thus gastric biopsy is an essential tool for diagnosis and confirmation of clinically suspected cases

Report of a recurrent mutation in ARS [component B] gene with severe Mal de Meleda in a large consanguineous Pakistani family

To characterize the disease causing mutation in a large consanguineous Pakistani family with severe Mal de Meleda [MDM] or keratosis palmoplantaris transgrediens, a rare autosomal recessive skin disorder. Single nucleotide polymorphism [SNPs] genotyping was performed using the GeneChip Mapping 250K array [Affymetrix]. Homozygosity mapping and sorting of genomic regions were performed with dedicated software called AutoSNPa. Selected regions were further investigated by genotyping with microsatellite markers derived from known and novel polymorphic repeats. Two-point LOD score calculation was performed by using the MLINK of Fastlink computer package. All three coding exons of ARS [component B] gene were amplified by PCR and sequenced. Sequencing of all the coding exons of ARS [component B] gene in the affected individuals revealed a recurrent missense mutation in exon 3 at base pair 256 from Guanine to Alanine [256G>A] and as a result the amino acid Glycine is replaced by Arginine at position 86 [G86R]. This finding will facilitate control of affected MDM births in the Pakistani families