Clinico-genomic findings, molecular docking, and mutational spectrum in an understudied population with breast cancer patients from KP, Pakistan.

In this study, we report the mutational profiles, pathogenicity, and their association with different clinicopathologic and sociogenetic factors in patients with Pashtun ethnicity for the first time. A total of 19 FFPE blocks of invasive ductal carcinoma (IDC) from the Breast Cancer (BC) tissue and 6 normal FFPE blocks were analyzed by whole-exome sequencing (WES). Various somatic and germline mutations were identified in cancer-related genes, i.

Preliminary insights on the mutational spectrum of BRCA1 and BRCA2 genes in Pakhtun ethnicity breast cancer patients from Khyber Pakhtunkhwa (KP), Pakistan.

Gene mutations are a source of genetic instability which fuels the progression of cancer. Mutations in BRCA1 and BRCA2 are considered as major drivers in the progression of breast cancer and their detection indispensable for devising therapeutic and management approaches. The current study aims to identify novel pathogenic and recurrent mutations in BRCA1 and BRCA2 in Pakhtun population from the Khyber Pakhtunkhwa.

Mutational Landscape and In-Silico Analysis of , , and in Patients with Breast Cancer from Khyber Pakhtunkhwa.

Herein, we report the mutational spectrum of three breast cancer candidate genes (, , and ) using WES for identifying potential biomarkers. The WES data were thoroughly analyzed using SAMtools for variant calling and identification of the mutations. Various bioinformatic tools (SIFT, PolyPhen-2, Mutation Taster, ISPRED-SEQ, SAAFEQ-SEQ, ConSurf, PROCHECK etc.

Hirschsprung's Disease: A Rare Entity in Adults.

Hirschsprung's disease (HD), a classic disease of childhood, may rarely escape diagnosis and lead to unique presentations in adults. By definition, the disease involves the rectosigmoid colon and is the result of a birth defect characterised by the absence of nerve cells responsible for the movement of the colon; thereby leading to functional obstruction. We present here a case of an 18-year girl who visited multiple doctors for the complaints of chronic constipation, abdominal distension, and failure to thrive since infancy.

Salmonella Osteomyelitis Of Ribs.

A 45-year-old diabetic male who was a farmer by profession, presented to Khyber Teaching Hospital with swelling and redness on the right side of the chest at the level of 8th rib for the past 5 months which was accompanied by fever and pain. He went to a local hospital where he was given broad spectrum antibiotics. He presented again with yellowish discharge from the wound.

Scar Pain, Cosmesis and Patient Satisfaction in Laparoscopic and Open Cholecystectomy.

Objective: To compare patient-satisfaction, scar-pain and cosmesis between laparoscopic and open-cholecystectomy.

Study Design: Cross-sectional survey.

Place And Duration Of Study: Khyber Teaching Hospital, Peshawar, from August 2012 to May 2014.

Effectiveness of simple control measures on methicillin-resistant Staphylococcus aureus infection status and characteristics with susceptibility patterns in a teaching hospital in Peshawar.

Objective: To determine the effectiveness of simple control measures on the infection status and characteristics of methicillin-resistant Staphylococcus aureus including susceptibility patterns among health professionals and patients in a teaching hospital.

Methods: The cross-sectional study was conducted from September 2013 to January 2014, and comprised samples collected from healthcare personnel and patients in the various units of Khyber Teaching Hospital, Peshawar. The specimens were collected before and one month after the implementation of simple control measures for outbreak prevention of methicillin-resistant Staphylococcus aureus.

Evaluation of postoperative antibiotics after non-perforated appendectomy.

Objective: To evaluate the role of postoperative antibiotics in reducing surgical site infections after appendectomy for non-perforated appendicitis.

Methods: The randomised controlled trial was conducted at Khyber Teaching Hospital, Peshawar, Pakistan, from November 11, 2012, to May 30, 2014, and comprised patients of emergency appendectomy for non-perforated appendicitis who were divided into groups A and B. Group A received a single dose of cefuroxime sodium and metronidazole half-an-hour before induction, while Group B received one more dose of the same antibiotics postoperatively.

Total leukocyte and neutrophil count as preventive tools in reducing negative appendectomies.

Background: Negative appendectomies result in unnecessary admissions, health care burden, and cost. This study was conducted to assess total leukocyte and neutrophil counts as preventive tools in reducing negative appendectomies.

Methods: Data of admitted patients who underwent appendectomies was analyzed.

Receiver operator characteristic curve analysis of the Lintula score for reduction of negative appendectomies in adults.

Objective: To evaluate the Lintula score in reducing negative appendectomies in the adult population.

Study Design: Descriptive analytical study.

Place And Duration Of Study: Surgical Department, Khyber Teaching Hospital, Peshawar, Pakistan, from August 2012 to April 2014.

Demographic pattern of male breast cancer: an institutional based study.

Background: Male breast cancer incidence rises with age with peak in the 6th & 7th decade. It is one of the rare diseases and accounts for less than 1% of all malignancies worldwide. It is usually diagnosed in the late stage with poor prognosis.