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In clinical practice, the attention given to sexual problems in patients with end-stage renal disease is low. In order to evaluate the erectile function in chronic renal failure patients undergoing hemodialysis (HD) as a renal replacement therapy in upper Egypt, we used the abridged version of the International Index of Erectile Function (IIEF-5). In all, 75 HD patients were subjected to clinical and laboratory investigations. The controls were 948 healthy males representing the general Egyptian population. The prevalence of erectile dysfunction (ED) among the HD patients was 82.5% compared to 30% among controls. The prevalence of ED in HD group was significantly higher than in controls. The prevalence of ED in HD patients o50 y was 80% and it was 88% in those Z50 y, while the prevalence of ED among controls was 28 and 69.8%, respectively. The prevalence of severe degree of ED was significantly higher in both groups compared to controls, while moderate degree of ED showed a statistical significance compared to controls in age groups o50 y and mild degree of ED showed a statistical significance compared to controls in age groups Z50 y. The univariate logistic regression analysis showed that age (r ¼ À0.3368, Po0.01), serum urea (r ¼ À0.5974, Po0.001), and creatinine level (r ¼ À0.5804, Po0.001) have a significant negative correlation with the presence of ED among HD patients, while serum hemoglobin (r ¼ 0.3396, Po0.001) and years of HD age (r ¼ 0.3147, Po0.01) have a significant positive correlation with the presence of ED among the HD patients. In view of the observed high prevalence of ED among the HD patients, we believe that a complete health evaluation of male HD patients should include a discussion about erectile function in the standard clinical care program of patients with renal disease.

Genetic generalized epilepsy (GGE), formerly known as idiopathic generalized epilepsy, is the most common form of epilepsy and is thought to have predominant genetic etiology. GGE are clinically characterized by absence, myoclonic, or generalized tonic-clonic seizures with electroencephalographic pattern of bilateral, synchronous, and symmetrical spike-and-wave discharges. Despite their strong heritability, the genetic basis of generalized epilepsies remains largely elusive. Nevertheless, recent advances in genetic technology have led to the identification of numerous genes and genomic defects in various types of epilepsies in the past few years. In the present study, we performed whole-exome sequencing in a family with GGE consistent with the diagnosis of eyelid myoclonia with absences. We found a nonsense variant (c.196C4T/p.(Arg66*)) in RORB, which encodes the beta retinoid-related orphan nuclear receptor (RORβ), in four affected family members. In addition, two de novo variants (c.218T4C/p.(Leu73Pro); c.1249_1251delACG/p.(Thr417del)) were identified in sporadic patients by trio-based exome sequencing. We also found two de novo deletions in patients with behavioral and cognitive impairment and epilepsy: a 52-kb microdeletion involving exons 5-10 of RORB and a larger 9q21-microdeletion. Furthermore, we identified a patient with intellectual disability and a balanced translocation where one breakpoint truncates RORB and refined the phenotype of a recently reported patient with RORB deletion. Our data support the role of RORB gene variants/CNVs in neurodevelopmental disorders including epilepsy, and especially in generalized epilepsies with predominant absence seizures.

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Background: Bone marrow is a readily accessible source for autologous adult bone marrow stem cells which can be applied therapeutically without possessing the risk of immune rejection and without raising ethical concerns. The purpose of this study is to determine the feasibility, safety, and effectiveness of direct transplantation of autologous adult bone marrow stem cells in patients with chronic cord injuries.Methods: Thirty consecutive patients (5 females and 25 males, aged 6 to 64 y) having chronic traumatic dorsal spinal cord injury with durations of at least 6 months were included in the study. Twenty patients were treated with autologous adult bone marrow stem cells transplantation through open surgical intraparenchymal and intralesional injection into the site of cord injury. The treatment was continued with monthly intrathecal injection of stem cells through lumbar or cisternal punctures. Ten other patients were not treated with stem cells and served as control cases.Results: Clinical improvement was observed in 6 (30%) of 20 patients treated with stem cells transplantation. Short duration of injury and small cord lesions correlated with good outcome. Follow-up electrophysiologic studies did not show statistically significant changes. Follow-up magnetic resonance imaging did not show significant changes. Minor and temporary treatmentrelated morbidity were recorded.Conclusions: The application of autologous adult bone marrow mesenchymal stem cells directly into the spinal cord is relatively safe and has clinical benefits in patients with chronic spinal cord injury. However, multicenter studies should be conducted to further elucidate the safety and efficacy of stem cells therapy in patients with spinal cord injury.

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