Compound Heterozygous Myosin 5B (Myo5b) Mutation with Early Onset Progressive Cholestasis and No Intestinal Failure.

Background: Exome sequencing studies have recently identified novel genes implicated in normal or low GGT pediatric cholestasis including myosin 5B (MYO5B). Case report: We identified novel compound heterozygote mutations in exon 14 and exon 19 of the MYO5B gene in an 18-month-old Indian child with history of fluctuating jaundice and severe pruritus. His liver biopsy showed portal and perivenular fibrosis with focal bridging septa and mild activity. He is currently on UDCA, cholestyramine and vitamin supplements. There is no history of diarrhea. His asymptomatic mother showed heterozygous mutation in exon 19 of the MYO5B gene and his asymptomatic father showed heterozygous mutation in exon 14 of the MYO5B gene. Conclusion: Our report confirms that patients with compound heterozygote mutations in MYO5B develop progressive cholestasis with no intestinal disease.

Urban-rural difference in satisfaction with primary healthcare services in Ghana.

BACKGROUND: Understanding regional variation in patient satisfaction about healthcare systems (PHCs) on the quality of services provided is instrumental to improving quality and developing a patient-centered healthcare system by making it more responsive especially to the cultural aspects of health demands of a population. Reaching to the innovative National Health Insurance Scheme (NHIS) in Ghana, surpassing several reforms in healthcare financing has been a milestone. However, the focus of NHIS is on the demand side of healthcare delivery. Studies focusing on the supply side of healthcare delivery, particularly the quality of service as perceived by the consumers are required. A growing number of studies have focused on regional differences of patient satisfaction in developed countries, however little research has been conducted concerning patient satisfaction in resource-poor settings like in Ghana. This study was therefore dedicated to examining the variation in satisfaction across rural and urban women in Ghana. METHODS: Data for the present study were obtained from the latest demographic and health survey in Ghana (GDHS 2014). Participants were 3576 women aged between 15 and 49 years living in non-institutional settings in Ghana. Summary statistics in percentages was used to present respondents' demographic, socioeconomic characteristics. Chi-square test was used to find association between urban-rural differentials with socio-economic variables. Multiple logistic regression was performed to measure the association of being satisfied with primary healthcare services with study variables. Model fitness was tested by pseudo R 2. Statistical significance was set at p < 0.05. RESULTS: The findings in this study revealed that about 57.1% were satisfied with primary health care services. The urban and rural areas reported 57.6 and 56.6% respectively which showed no statistically significant difference (z = 0.64; p = 0.523; 95%CI: -0.022, 0.043). Bivariate analysis showed that region, highest level of education, wealth index and type of facility were significantly associated with location of residence (urban-rural areas). After adjusting for confounding variables using logistic regression, geographical location became a key factor of satisfaction with primary healthcare services by location of residence. In urban areas, respondents from Greater Accra had 64% increase in the level of satisfaction when compared to those in Western region (OR = 1.64; 95CI: 1.09-2.47), Upper East had 75% increase in satisfaction compared to Western region (OR = 1.75; 95%CI: 1.08-2.84), Northern had an estimated 44% reduction in satisfaction when compared to Western region (OR = 0.56; 95%CI: 0.34-0.92). However, rural areas in Central, Volta, Eastern, Ashanti, Brong Aghafo, Northern and Upper West region had 51, 81, 69, 46, 62, 75 and 61% reduction respectively in the level of satisfaction when compared to Western region. CONCLUSIONS: Patient satisfaction is an important indicator of health outcomes. Quality of care and measuring level of patient satisfaction has been found to be the most useful tool to predict utilization and compliance. In fact, satisfied patients are more likely than unsatisfied ones to continue using health care services. Our results suggest that policymakers need to better understand the determinants of satisfaction with the health system and how different socio-demographic groups perceive satisfaction with healthcare services so as to address health inequalities between urban and rural areas within the same country.

Rare Case of Retroperitoneal Lipomatosis in an Indian Woman.

Retroperitoneal lipomatosis is a rare but distinct clinicopathological entity characterized by non encapsulated lipoma development in the retroperitoneum. Presenting complaints in the early stages are vague, and patients with retroperitoneal lipomatosis are often misdiagnosed because considerable abnormality is not detected by abdomino-pelvic sonography. However, because of the progressive nature of this lesion, most patients eventually present with varying degrees of urinary outflow obstruction and end stage renal disease, or bladder malignancies in few cases. Here we report a case of a 35-year-old Indian woman presenting with complaints of diffuse lumps in the abdomen and constipation. Based on the findings of the imaging [sonography and computed tomography (CT) scan] studies, benign retroperitoneal lipomatosis was preopreratively diagnosed and a confirmatory exploratory laprotomy was performed. Furthermore, we discuss the imaging findings obtained using various radiological modalities such as plain radiographs, intravenous urography, barium enema, sonography, CT and magnetic resonance imaging (MRI). We also discuss the etiopathogenesis, demographics, and various differential diagnoses of retroperitoneal lipomatosis.