Rappaport Faculty of Medicine

About: Rappaport Faculty of Medicine is a based out in . It is known for research contribution in the topics: Population & Heparanase. The organization has 3205 authors who have published 3915 publications receiving 114533 citations.

Advanced paternal age and reproductive outcome.

Abstract: Women have been increasingly delaying the start of motherhood in recent decades. The same trend is seen also for men. The influence of maternal age on fertility, chromosomal anomalies, pregnancy complications, and impaired perinatal and post-natal outcome of offspring, has been thoroughly investigated, and these aspects are clinically applied during fertility and pregestational counseling. Male aging and reproductive outcome has gained relatively less attention. The purpose of this review is to evaluate updated and relevant literature on the effect of paternal age on reproductive outcome.

Genetic spectrum of hereditary neuropathies with onset in the first year of life

Abstract: Early onset hereditary motor and sensory neuropathies are rare disorders encompassing congenital hypomyelinating neuropathy with disease onset in the direct post-natal period and Dejerine-Sottas neuropathy starting in infancy. The clinical spectrum, however, reaches beyond the boundaries of these two historically defined disease entities. De novo dominant mutations in PMP22, MPZ and EGR2 are known to be a typical cause of very early onset hereditary neuropathies. In addition, mutations in several other dominant and recessive genes for Charcot-Marie-Tooth disease may lead to similar phenotypes. To estimate mutation frequencies and to gain detailed insights into the genetic and phenotypic heterogeneity of early onset hereditary neuropathies, we selected a heterogeneous cohort of 77 unrelated patients who presented with symptoms of peripheral neuropathy within the first year of life. The majority of these patients were isolated in their family. We performed systematic mutation screening by means of direct sequencing of the coding regions of 11 genes: MFN2, PMP22, MPZ, EGR2, GDAP1, NEFL, FGD4, MTMR2, PRX, SBF2 and SH3TC2. In addition, screening for the Charcot-Marie-Tooth type 1A duplication on chromosome 17p11.2-12 was performed. In 35 patients (45%), mutations were identified. Mutations in MPZ, PMP22 and EGR2 were found most frequently in patients presenting with early hypotonia and breathing difficulties. The recessive genes FGD4, PRX, MTMR2, SBF2, SH3TC2 and GDAP1 were mutated in patients presenting with early foot deformities and variable delay in motor milestones after an uneventful neonatal period. Several patients displaying congenital foot deformities but an otherwise normal early development carried the Charcot-Marie-Tooth type 1A duplication. This study clearly illustrates the genetic heterogeneity underlying hereditary neuropathies with infantile onset.

Mortality risk factors in sleep apnoea: a matched case-control study.

Abstract: Sleep apnoea syndrome was reported to be associated with increased mortality but it is not known if this association is independent of obesity and co-morbidities. The present study investigated predictors of mortality in a large cohort of men with sleep apnoea using a case-control design. The study population consisted of 10,981 men diagnosed during 1991-2000 by whole-night polysomnography with sleep apnoea; 331 men died prior to 1 September 2001, of whom 277 were matched by age, gender, site and time of study to patients who were alive in September 2001. Multivariate analysis revealed that all-cause mortality was associated with chronic obstructive pulmonary disease (COPD) (odds ratio, OR: 7.07, 95% CI 2.75-18.16), chronic heart failure (CHF) (OR: 5.47, 95% CI 1.06-28.31), diabetes mellitus (DM) (OR: 3.30, 95% CI 1.51-7.20) and body mass index (BMI) (increase of 5 kg m(-2), OR: 1.44, 95% CI: 1.04-1.99). Chronic upper airway problems were associated with survival (OR: 0.45, 95% CI 0.23-0.90). There were significant interactions between respiratory disturbance index and BMI and COPD. Mortality of patients younger than the median age (62 years) was associated with COPD, DM and an interaction between BMI and apnoea severity. Predictors of mortality for the older patients were COPD, CHF and DM. We conclude that all-cause mortality in sleep apnoea is associated with co-morbidities and obesity. Severity of sleep apnoea affects mortality by interacting with obesity and lung disease.