Uridine diphosphate glucuronosyl transferase 1A (UGT1A1) promoter polymorphism in young patients with sickle cell anaemia: report of the first cohort study from Nigeria

(TA) n repeat sequence (rs8175347) of UGT1A1 gene promoter polymorphism is associated with serum bilirubin levels and gallstones among different sickle cell anaemia (SCA) populations. There are no data on UGT1A1 polymorphisms and their impact on Nigerian SCA patients. In this study, we determined the distribution of the UGT1A1 (TA) n genotypes among a group of young Nigerian SCA patients and healthy controls. In addition, the influence of UGT1A1 (TA) n genotypes on the laboratory and clinical events among the patients was determined. Methods The distribution of the UGT1A1 (TA) n genotypes among 101 young Nigerian SCA patients and 64 normal appropriate controls were determined and studied. The UGT1A1 (TA) n genotypes were further classified into subgroups and used to differentiate the clinical events and laboratory parameters of the patients. Results Four (TA) n alleles:(TA)5, 6, 7, and 8 were found. These were associated with 10 genotypes: TA5/5, 5/6, 5/7, 5/8, 6/6, 6/7, 6/8, 7/7, 7/8, 8/8. The normal (wild-type)-(TA) 6/6), low- (TA) 7/7, 7/8, 8/8), intermediate- (TA) 5/7, 5/8, 6/7, 6/8), and high-activity (TA) 5/5, 5/6,) genotypes were found in 24.8, 24.8, 41.5, and 8.9% patients and 20.3, 15.6, 61, and 3.1% controls respectively. The general genotype distribution of the patients and control group were not significantly different. There were significant differences in serum bilirubin and lactate dehydrogenase (LDH) of the patients when differentiated by the UGT1A1 (TA) n genotypes (p<0.05). Asymptomatic gallstones were found in 5.9% of patients and were significantly of the low-activity genotypes sub-group 5 (20%) vs 1(1.3%) p = 0.0033. Although, bilirubin and fetal hemoglobin (HbF) of patients with gallstones were significantly different from those without gallstone, only the serum bilirubin was associated with UGT1A1 (TA) n genotypes on multivariate analysis (p < 0.0001). Conclusion This study highlights the contribution of UGT1A1 polymorphisms, a non-globin genetic factor, to the laboratory and clinical manifestations of young Nigerian SCA patients for the first time. It also shows that children with co-inheritance of low UGT1A1 (TA) n affinity genotypes may be at risk of gallstone, hence the need to follow them up20CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICO - CNPQFUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO - FAPESP2015/141693–02014/00984–

Optic nerve sonography: A noninvasive means of detecting raised intracranial pressure in a resource-limited setting

Objective: The aim was to assess the use of optic nerve sonography (ONS) as a quick, noninvasive diagnostic test tool for detecting raised the intracranial pressure (ICP). Materials and Methods: A prospective blinded observational study was conducted at Obafemi Awolowo University Teaching Hospitals Complex (OAUTHC), Ile-Ife, Nigeria. The study population consisted of 160 adult patients referred to the radiology department for cranial computed tomography (CT) scan. There were 80 subjects and 80 controls. Optic nerve sheath diameter (ONSD) was measured by a radiologist using a 7.5 Megahertz ultrasound probe while cranial CT was reviewed by other radiologists blinded to the ONSD. Results: Sixty-nine subjects (86.3%) had intracranial space occupying lesions (SOL) with cranial CT confirmed features of increased ICP, mean binocular ONSD of 5.7 ± 0.59 mm while 11 (13.7%) had intracranial SOL without any cranial CT evidence of increased ICP, mean binocular ONSD of 4.8 ± 0.39 mm. The difference of mean ONSD of the two groups was statistically significant (P = 0.0001). The controls had a mean binocular ONSD of 4.5 ± 0.22 mm and the difference in mean binocular ONSD for subjects with raised ICP and the controls were also statistically significant (P = 0.0001). A cut-off value of 5.2 mm (sensitivity 81.2% [95% confidence interval (CI): 69.9–89.6], specificity 100% [95% CI: 71.5–100]) was obtained from the receiver operator characteristics curve as the mean binocular ONSD that best predicts raised ICP confirmed by at least a sign on cranial CT. Conclusions: Optic nerve sonography can differentiate between normal and elevated ICP and may serve as a useful screening tool in resource-limited practice

Socio-demographic, pattern of presentation and management outcome of breast cancer in a semi-urban tertiary health institution

Introduction:&nbsp;breast cancer is the most common malignancy in females worldwide and a major cause of cancer-related deaths in both developing and developed countries. The objective of this study was to determine the socio-demographics, pattern of presentation and management outcome of breast cancer patients. Methods:&nbsp;clinical records of confirmed breast cancer patients between January 2011 and December 2015 at the Ekiti State University Teaching Hospital, Ado-Ekiti, Nigeria were reviewed. Results:&nbsp;eighty two breast cancer patients were seen. Their ages ranged from 26-95 years (mean 48.9 ± 14.9 years, median 47.5 years). Eighty one (98.8%) were females and the majority (65.4%) were premenopausal. The peak age of incidence was in the 4th&nbsp;decade. All patients presented with breast lump with mean duration of 9.49±6.1 months and size ranging from 2 to 16cm (mean 7.9±3.4 cm). Ten (12.2%) patients presented early, 61 (74.4%) were locally advanced while 11 (13.4%) had distant metastases. Fifty one (62.2%) patients had mastectomy. Only 38 (46.3%) patients completed six courses of chemotherapy. None had immunohistochemistry but they all routinely took tamoxifen. Only 4 (4.9%) had radiotherapy. Nineteen (23.2%) died within a year of presentation. The follow-up period ranged between 1 and 44 months (mean, 10.3 months). Thirty one (37.8%), 19 (23.2%) and 8 (9.8%) patients were seen during the first, second and third year of follow up respectively. Conclusion:&nbsp;breast cancer mostly affects young premenopausal women presenting in advanced stage in our setting. The generally poor outcome is not unconnected with late presentation and inadequate diagnostic and treatment facilities