Unseen features of society create hidden health complications : An exemplification of how socio-cultural environments may impact pregnant women’s health. A case-study from Aira Woreda, Ethiopia

Master's thesis in global studies. VID Specialized University, Stavanger, May 2018Our understanding of our reality is shaped by our worldviews and the influences from a more intertwined world trough globalization. These forces influence each other as they simultaneously are important invisible dynamics that affect our everyday decisions, priorities and actions. I call these dynamics socio-cultural environments. The goal of this study is to provide a deeper understanding of how social-cultural environments may have an impact on pregnant women’s health in Aira Woreda, Ethiopia. A qualitative study consisting of a sixweek fieldwork including observations, interviews of 15 pregnant woman, health personal, governmental offices and regular people was conducted in Aira to gather primary data. Infrastructures such as roads, ambulances and communication technologies are more established today than before. Hospitals, clinics, health centres and health posts, supplied with medical health personnel, are present. Education is given at schools and health facilities. There have been both governmental and non-governmental, and international and national developmental work related to health campaigns, health promotion and/or health education regarding maternal health. However, many initiatives have not been successfully implemented. This is, partly, due to that the prominent aspects of socio-cultural environments many times have been overlooked. This thesis gives examples on how socio-cultural environments and its cognitive, affective and evaluative dimensions may affect pregnant women’s health seeking behaviours in Aira Woreda. A major conclusion of this study is that gender roles, religion and education have proven to be fundamental aspects in understanding how socio-cultural environments leads decisions and actions of pregnant women in Aira Woreda.submittedVersionMV 17 S

Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness

Background: The transepithelial transport of electrolytes, solutes, and water in the kidney is a well-orchestrated process involving numerous membrane transport systems. Basolateral potassium channels in tubular cells not only mediate potassium recycling for proper Na+,K+-ATPase function but are also involved in potassium and pH sensing. Genetic defects in KCNJ10 cause EAST/SeSAME syndrome, characterized by renal salt wasting with hypokalemic alkalosis associated with epilepsy, ataxia, and sensorineural deafness. Methods: A candidate gene approach and whole-exome sequencing determined the underlying genetic defect in eight patients with a novel disease phenotype comprising a hypokalemic tubulopathy with renal salt wasting, disturbed acid-base homeostasis, and sensorineural deafness. Electrophysiologic studies and surface expression experiments investigated the functional consequences of newly identified gene variants. Results: We identified mutations in the KCNJ16 gene encoding KCNJ16, which along with KCNJ15 and KCNJ10, constitutes the major basolateral potassium channel of the proximal and distal tubules, respectively. Coexpression of mutant KCNJ16 together with KCNJ15 or KCNJ10 in Xenopus oocytes significantly reduced currents. Conclusions: Biallelic variants in KCNJ16 were identified in patients with a novel disease phenotype comprising a variable proximal and distal tubulopathy associated with deafness. Variants affect the function of heteromeric potassium channels, disturbing proximal tubular bicarbonate handling as well as distal tubular salt reabsorption

Defects in KCNJ16 cause a novel tubulopathy with hypokalemia, salt wasting, disturbed acid-base homeostasis, and sensorineural deafness

Background The transepithelial transport of electrolytes, solutes, and water in the kidney is a wellorchestrated process involving numerous membrane transport systems. Basolateral potassium channels in tubular cells not onlymediate potassiumrecycling for proper Na+, K+-ATPase function but are also involved in potassium and pH sensing. Genetic defects in KCNJ10 cause EAST/SeSAME syndrome, characterized by renal salt wasting with hypokalemic alkalosis associated with epilepsy, ataxia, and sensorineural deafness. Methods A candidate gene approach and whole-exome sequencing determined the underlying genetic defect in eight patients with a novel disease phenotype comprising a hypokalemic tubulopathy with renal salt wasting, disturbed acid-base homeostasis, and sensorineuraldeafness. Electrophysiologic studies and surface expression experiments investigated the functional consequences of newly identified gene variants. ResultsWeidentifiedmutations in the KCNJ16 gene encoding KCNJ16, which along with KCNJ15 and KCNJ10, constitutes the major basolateral potassium channel of the proximal and distal tubules, respectively. Coexpression of mutant KCNJ16 together with KCNJ15 or KCNJ10 in Xenopus oocytes significantly reduced currents. Conclusions Biallelic variants inKCNJ16were identified in patients with a novel disease phenotype comprising a variable proximal and distal tubulopathy associated with deafness. Variants affect the function of heteromeric potassium channels, disturbing proximal tubular bicarbonate handling aswell as distal tubular salt reabsorption

Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness

Background The transepithelial transport of electrolytes, solutes, and water in the kidney is a well-orchestrated process involving numerous membrane transport systems. Basolateral potassium channels in tubular cells not only mediate potassium recycling for proper Na+,K+-ATPase function but are also involved in potassium and pH sensing. Genetic defects in KCNJ10 cause EAST/SeSAME syndrome, characterized by renal salt wasting with hypokalemic alkalosis associated with epilepsy, ataxia, and sensorineural deafness. Methods A candidate gene approach and whole-exome sequencing determined the underlying genetic defect in eight patients with a novel disease phenotype comprising a hypokalemic tubulopathy with renal salt wasting, disturbed acid-base homeostasis, and sensorineural deafness. Electrophysiologic studies and surface expression experiments investigated the functional consequences of newly identified gene variants. Results We identified mutations in the KCNJ16 gene encoding KCNJ16, which along with KCNJ15 and KCNJ10, constitutes the major basolateral potassium channel of the proximal and distal tubules, respectively. Coexpression of mutant KCNJ16 together with KCNJ15 or KCNJ10 in Xenopus oocytes significantly reduced currents. Conclusions Biallelic variants in KCNJ16 were identified in patients with a novel disease phenotype comprising a variable proximal and distal tubulopathy associated with deafness. Variants affect the function of heteromeric potassium channels, disturbing proximal tubular bicarbonate handling as well as distal tubular salt reabsorption