Background. Although Alzheimer's disease (AD) is the most common age-related neurodegenerative disease and characterized by memory impairment, only symptomatic treatments are available.

Amyotrophic lateral sclerosis (ALS) is a late-onset motor neuron disease with mostly dominant inheritance and a life expectancy of 2-5 years; however, a quite common occurrence of atypical forms of the disease, due to recessive inheritance, has become evident with the use of NGS technologies. In this paper, we describe a family with close consanguinity for at least four generations, suffering from a slowly progressive form of ALS. Spastic walking is observed since teenage years, while bulbar symptoms start much later, at the fifth or sixth decade of life. Patients usually die because of respiratory failure. Using whole-exome sequencing, we identified a novel homozygous p.(Val94Ala) (c.281T>C) (NG_052910.1) (NM_006459) variation in the endoplasmic reticulum lipid raft associated protein 1 (ERLIN1) gene, which segregates with the disease in the family. Here we suggest that ERLIN1 variants, previously shown in juvenile hereditary spastic paraplegia cases, may also be the cause of a slowly progressive early-onset ALS, starting with upper motor neuron features and developing into classical ALS with the addition of lower motor neuron dysfunction. We also demonstrate that ATP-binding cassette subfamily C member 2 (ABCC2) gene, responsible for hyperbilirubinemia, is linked to ERLIN1.

No abstract

BackgroundErectile dysfunction (ED), defined as the inability to achieve or maintain an erection sufficient for satisfactory sexual performance, is a common condition. The psychological, hormonal, neurogenic and arterial pathologies, medications, chronic diseases have been reported in the etiology of the ED. This paper aims to study sexual dysfunction in the male patients with migraine and Tension type headache (TTH).Methods30 migraine cases (Group M), 31 TTH cases (Group T) and 30 control cases (Group C) were included in the study. Patients were evaluated with medical history, physical examination, body mass index (BMI), Beck Depression Inventory, biochemical analysis and hormone profiles. ED was evaluated via International Index of Erectile Function Scale (IIEF). In statistical analysis, variant analysis, post-hoc tukey test, Pearson correlation test, t-test, and fisher's exact chi-square test were used.ResultsThe patients' mean age was 34.96+/−1.30, 35.54+/−1.52 and 32.26+/−1.38 for group M,T and C, respectively. There was no significant difference between the groups in terms of testosterone levels. Mean IIEF scores was 19.83+/−2.2, 20.39+/−1.35 and 27.83+/−0.34 in groups M,T,C. When M and T groups were compared with group C, there were significant differences, and there was no statistical difference when T and M groups were compared to each other. Beck Depression Scores were not significantly different in groups M, T and C.ConclusionIn this study, it was shown that, migraine and TTH affects the sexual functions negatively in male patients. Chronic diseases may cause sexual disorders in patients because of despair, guilt, and fear of death or pain. Our results suggest that, along with the effect of chronic disease and pain, there must be other complicated factors exist causing the development of SD in patients with migraine and TTH.

Although there was no significant difference between the groups, rats receiving autologous fat graft showed better regeneration. Combined use of autologous fat graft with surgical repair methods induced significantly better regeneration. It was concluded that autologous fat grafting may have a beneficial effect on nerve regeneration when it is present in the coaptation site during healing.