Analysis of the genomic landscapes of Barbadian and Nigerian women with triple negative breast cancer.

PURPOSE: Triple negative breast cancer (TNBC) is an aggressive breast cancer subtype that disproportionately affects women of African ancestry (WAA) and is often associated with poor survival. Although there is a high prevalence of TNBC across West Africa and in women of the African diaspora, there has been no comprehensive genomics study to investigate the mutational profile of ancestrally related women across the Caribbean and West Africa. METHODS: This multisite cross-sectional study used 31 formalin-fixed paraffin-embedded (FFPE) samples from Barbadian and Nigerian TNBC participants. High-resolution whole exome sequencing (WES) was performed on the Barbadian and Nigerian TNBC samples to identify their mutational profiles and comparisons were made to African American, European American and Asian American sequencing data obtained from The Cancer Genome Atlas (TCGA). Whole exome sequencing was conducted on tumors with an average of 382 × coverage and 4335 × coverage for pooled germline non-tumor samples. RESULTS: Variants detected at high frequency in our WAA cohorts were found in the following genes NBPF12, PLIN4, TP53 and BRCA1. In the TCGA TNBC cases, these genes had a lower mutation rate, except for TP53 (32% in our cohort; 63% in TCGA-African American; 67% in TCGA-European American; 63% in TCGA-Asian). For all altered genes, there were no differences in frequency of mutations between WAA TNBC groups including the TCGA-African American cohort. For copy number variants, high frequency alterations were observed in PIK3CA, TP53, FGFR2 and HIF1AN genes. CONCLUSION: This study provides novel insights into the underlying genomic alterations in WAA TNBC samples and shines light on the importance of inclusion of under-represented populations in cancer genomics and biomarker studies.

Preliminary Experience with Mini-Laparotomy Cholecystectomy in Jos.

Background: Different techniques have been described for removing a diseased gall bladder; however, cholecystectomy via the laparoscopic approach is currently regarded as the gold standard. Laparoscopic surgery services are not widely available in low- and middle-income countries and mini-laparotomy cholecystectomy may be a suitable alternative in such circumstances. This technique achieves cholecystectomy with a smaller incision and affords the advantages of the laparoscopic approach. Objective: We report our experience over a 2-year period of 24 consecutive patients from two hospitals who underwent mini-laparotomy cholecystectomy to highlight our outcomes with the procedure. Materials and Methods: Data were obtained from the surgical theatre procedure register and medical records department of the hospital. Results: During the study period, a total of 24 mini-laparotomy cholecystectomies were performed. Fourteen (58.3%) patients had a clinical diagnosis of calculous cholecystitis whereas 10 (41.7%) patients had symptomatic gallstones. There were four males (16.7%) and 20 females (83.3%) giving a male-to-female ratio of 1:5. The ages ranged from 18 to 68 years with a mean of 46.8 years (standard deviation (SD) = 12.7 years) and the mean operating time was 56.3 min (SD = 7.5 min) and ranged from 45 to 72 min. There was no conversion to the traditional large incision cholecystectomy. There were no intra-operative or post-operative complications and there was no mortality in the study. All the patients were discharged 48 h post-op. Conclusion: Mini-laparotomy cholecystectomy offers the benefits of a minimally invasive procedure such as good cosmesis and short hospital stay. It has a relatively short operative time and a low incidence of complications and can be practised in a low-resource environment, where laparoscopic services are not available.

Laparoscopic Cholecystectomy in Jos: Prospects and Perspectives.

Laparoscopic cholecystectomy is now done in a lot more private and public hospital settings presently in low-income countries, particularly sub-Saharan Africa. Though it is not routinely done in these centres, the percentage of cholecystectomies done laparoscopically has increased over the years. Laparoscopic surgery services were introduced at our hospital in 2011 and this retrospective study reviews our outcomes with the procedure over a 6-year period. A total of 87 cholecystectomies were done in the period under review. Forty-eight (55.2%) were laparoscopic cholecystectomies, 30 (44.8%) were open cholecystectomies, and 9 (10.3%) were mini-laparotomy cholecystectomies. There were 32 (66.7%) women and 16 (33.3%) men who had laparoscopic cholecystectomy giving a male-to-female ratio of 1:2. The mean age of the patients was 41.0 years (SD = 14.3 years). The most common indication for laparoscopic cholecystectomy was calculous cholecystitis. The most common co-morbidity was hypertension in 23 (47.9%) patients, followed by sickle cell anaemia in 10 (20.8%) patients. The operating time ranged from 70 min to 120 min with a mean of 86.6 (SD = 14.5). There were three conversions and two intra-operative complications. Twenty-five patients (52.1%) were discharged within 24 h, 16 (33.3%) within 48 h and the rest (14.6%) were discharged later. The duration of surgery had a significant association with duration of hospital stay. There was 1 mortality in our study. Laparoscopic cholecystectomy offers unique advantages over open such as decreased length of hospital stay and reduced wound complications. Most of the cholecystectomies in our setting are now performed laparoscopically with a low conversion rate and low incidence of bile duct injuries. Patients with sickle cell disease constitute a significant percentage of patients requiring this procedure.

Abdominal injuries in communal crises: The Jos experience.

BACKGROUND: Abdominal injuries contribute significantly to battlefield trauma morbidity and mortality. This study sought to determine the incidence, demographics, clinical features, spectrum, severity, management, and outcome of abdominal trauma during a civilian conflict. MATERIALS AND METHODS: A prospective analysis of patients treated for abdominal trauma during the Jos civil crises between December 2010 and May 2012 at the Jos University Teaching Hospital. RESULTS: A total of 109 victims of communal conflicts with abdominal injuries were managed during the study period with 89 (81.7%) males and 20 (18.3%) females representing about 12.2% of the total 897 combat related injuries. The peak age incidence was between 21 and 40 years (range: 3-71 years). The most frequently injured intra-abdominal organs were the small intestine 69 (63.3%), colon 48 (44%), and liver 41 (37.6%). Forty-four (40.4%) patients had extra-abdominal injuries involving the chest in 17 (15.6%), musculoskeletal 12 (11%), and the head in 9 (8.3%). The most prevalent weapon injuries were gunshot 76 (69.7%), explosives 12 (11%), stab injuries 11 (10.1%), and blunt abdominal trauma 10 (9.2%). The injury severity score varied from 8 to 52 (mean: 20.8) with a fatality rate of 11 (10.1%) and morbidity rate of 29 (26.6%). Presence of irreversible shock, 3 or more injured intra-abdominal organs, severe head injuries, and delayed presentation were the main factors associated with mortality. CONCLUSION: Abdominal trauma is major life-threatening injuries during conflicts. Substantial mortality occurred with loss of nearly one in every 10 hospitalized victims despite aggressive emergency room resuscitation. The resources expenditure, propensity for death and expediency of timing reinforce the need for early access to the wounded in a concerted trauma care systems.