Moesgaard Jackson (peonycover0)

Objective Sexual dysfunction is a major health concern in infertile men. This research aims to evaluate the sexual dysfunction and its associated risk factors in the male partners of infertile couples. Materials and Methods The cross-sectional study was performed on 204 male partners of infertile couples that were referred to Fatemeh Zahra Infertility & Reproductive Center, Babol, Iran, in 2015. Sexual dysfunction was evaluated using The International Index of Erectile Function (IIEF). Logistic and linear regression tests were used for statis¬tical analyses. Statistical significance was considered with a p value less than 0.05. Results The mean total IIEF score was 58.30±8.52. The lowest mean of IIEF domains was related to sexual desire and then orgasmic function in the male partners of the infertile couples. Erectile function contributed to the greatest amount of unique variance in the model for sexual function (p less then 0.001, R2=69.8%). The strongest correlation value was between the domains of overall hing House.Norrie disease is an X-linked genetic disorder caused by pathogenic mutations in the NDP . Here, we describe the clinical phenotype and genotype in a 19-week-old male infant with bilateral retinal detachment. Whole exome sequencing using available commercial methods on the proband revealed a hemizygous substitution in exon 3 of NDP , which suggests the etiology behind retinal detachment. This report not only adds to the expanding mutational spectrum of NDP -related retinopathies but also highlights the recurrence of pathogenic variants in the Cys110 residue, adding additional evidence to this residue as a potential mutational hot spot. Selleck HG-9-91-01 © Thieme Medical Publishers.Mucolipidosis II α/beta (MLII) is an autosomal recessive disease in which a gene mutation leads to improper targeting of lysosomal enzymes with an end result of accumulation of lysosomes in the mitochondria resulting in a dysfunctional mitochondria. 1 Leigh syndrome (LS) is a rare progressive neurodegenerative disorder associated with dysfunctional mitochondria and oxidative phosphorylation. 4 Both disease processes typically present in infancy. 3 7 Herein, we present a case of an infant diagnosed with both mucolipidosis II and Leigh syndrome. Genetic analysis in this case revealed two mutations (NDUFA12 c.178C > T p.Arg60* and GNPTAB c.732_733delAA) on the long arm of chromosome 12 as the etiology of MLII and LS in this neonate, respectively. We are unaware of any previously published cases of the presence of these two diseases occurring in the same patient. The complex clinical presentation of this case led to a delay in the diagnosis, and we believe that the clinical phenotypes of these two conditions were likely worsened. The genetic alterations presented in this case occurred as a result of mutations on chromosome 12. We suggest further investigation into the potential overlap in the pathophysiology, specifically the inheritance pattern, linkage disequilibrium, mitochondrial-lysosomal interaction, or crosstalk contributing to both diseases. © Thieme Medical Publishers.Sleep-disordered breathing (SDB) is common in children, especially in those with congenital or genetic diseases. The factors involved include obstructive sleep apnea, disrupted rapid eye movement sleep, and central hypoventilation. Diagnosing and treating SDB in these children have a positive impact on the quality of life of them and their families, reducing the risk of both further impairment of cognitive abilities and cardiopulmonary complications. We report a familial case of SDB with central hypoventilation, in which identification of the disorder in the younger sister led to the unfortunately late diagnosis and treatment of the same condition in the older sister. © Thieme Medical Publishers.Autosomal recessive type I cutis laxa is genetically heterogeneous. Biallelic mutations in latent transforming growth factor β-binding protein 4 (LTBP4; MIM*60471