Despite new therapeutic options and treatment strategies, anemia still remains one of the major complications of chronic kidney disease (CKD), especially in patients undergoing chronic hemodialysis for end-stage renal disease. Successful management of anemia is a central part of patient care that may improve clinical outcomes. Although the National Kidney Foundation Dialysis Outcomes Quality Initiative (NKF-DOQI) working group reformulated its recommendations by stating that the hemoglobin target in patients receiving erythropoiesis stimulatory agents (ESA) should generally be 11–12 g/dl, this target value can not be achieved in many of them, despite treatment with high doses of ESA. The aim of the present review is to provide an update of the recent literature on causes and possible management of ESA-resistant anemia in CKD patients.

ABS has in vivo hemostatic actions that may provide a therapeutic potential for the management of patients with deficient primary hemostasis in clinical medicine.

Context Most of the knowledge on the factors involved in human sexual development stems from studies of rare cases with disorders of sex development. Here, we have described a novel 46, XY complete gonadal dysgenesis syndrome caused by homozygous variants in PPP2R3C gene. This gene encodes B″gamma regulatory subunit of the protein phosphatase 2A (PP2A), which is a serine/threonine phosphatase involved in the phospho-regulation processes of most mammalian cell types. PPP2R3C gene is most abundantly expressed in testis in humans, while its function was hitherto unknown. Patients and methods Four girls from four unrelated families with 46, XY complete gonadal dysgenesis were studied using exome or Sanger sequencing of PPP2R3C gene. In total, four patients and their heterozygous parents were investigated for clinical, laboratory, immunohistochemical and molecular characteristics. Results We have identified three different homozygous PPP2R3C variants, c.308T>C (p.L103P), c.578T>C (p.L193S) and c.1049T>C (p.F350S), in four girls with 46, XY complete gonadal dysgenesis. Patients also manifested a unique syndrome of extragonadal anomalies, including typical facial gestalt, low birth weight, myopathy, rod and cone dystrophy, anal atresia, omphalocele, sensorineural hearing loss, dry and scaly skin, skeletal abnormalities, renal agenesis and neuromotor delay. We have shown a decreased SOX9-Phospho protein expression in the dysgenetic gonads of the patients with homozygous PPP2R3C variants suggesting impaired SOX9 signaling in the pathogenesis of gonadal dysgenesis. Heterozygous males presented with abnormal sperm morphology and impaired fertility. Conclusion Our findings suggest that PPP2R3C protein is involved in the ontogeny of multiple organs, especially critical for testis development and spermatogenesis. PPPR3C provides insight into pathophysiology, as well as emerging as a potential therapeutic target for male infertility.

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IntroductionElectricity outages are common in low/middle-income countries and have been shown to adversely affect the operation of health facilities; however, little is known about the effect of outages on the utilisation of health services.MethodsUsing data from the 2015–2016 India Demographic Health Survey, combined with information on electricity outages as reported by the state electricity provider, we explore the associations between outage duration and frequency and delivery in an institution, skilled birth attendance, and caesarean section delivery in Maharashtra State, India. We employ multivariable logistic regression, adjusting for individual and household-level covariates as well as month and district-level fixed effects.ResultsPower outage frequency was associated with a significantly lower odds of delivering in an institution (OR 0.98; 95% CI 0.96 to 0.99), and the average number of 8.5 electricity interruptions per month was found to yield a 2.08% lower likelihood of delivering in a facility, which translates to an almost 18% increase in home births. Both power outage frequency and duration were associated with a significantly lower odds of skilled birth attendance (OR 0.97; 95% CI 0.95 to 0.99, and OR 0.99; 95% CI 0.992 to 0.999, respectively), while neither power outage frequency nor duration was a significant predictor of caesarean section delivery.ConclusionPower outage frequency and duration are important determinants of maternal health service usage in Maharashtra State, India. Improving electricity services may lead to improved maternal and newborn health outcomes.