Impact of the <Emphasis Type="Italic">FSHB</Emphasis> gene -211G/T polymorphism on male gonadal function

Purpose

The FSHB gene -211G/T polymorphism has been reported to modulate gene expression and to cause inter-individual differences in FSH serum levels in men. This study was undertaken to assess the functional relevance of this polymorphism on gonadotropin and total testosterone serum levels and sperm parameters in men from Eastern Sicily (Italy).

Methods

To accomplish this, 200 men with abnormal conventional sperm parameters or normozoospermia (according to the parameters of WHO 2010) were genotyped by TaqMan Assay.

Results

The frequency of FSHB -211 T allele was significantly higher (p < 0.005) in patients with altered conventional sperm parameters (18.9% of chromosomes) compared to that observed in men with normozoospermia (10.9% of chromosomes). Decreasing serum levels of FSH and LH were observed across the three FSHB -211 genotype subgroups (p < 0.001 and p < 0.05, respectively). In addition, the FSHB -211G/T polymorphism showed a total testosterone downward trend that became more evident in men with the TT genotype compared to subjects with the GG genotype (p = 0.05). Furthermore, we found a trend towards decreased sperm concentration, total sperm count, sperm forward motility and testicular volume in men with GT and TT genotypes.

Conclusions

These findings showed that the FSHB -211 G/T polymorphism modulates male gonadal function with a clear influence on hormonal levels and sperm parameters.

Capsule

The present study was undertaken to evaluate the distribution of the FSHB -211 G/T in men with normal or abnormal sperm parameters from Southern Italy to assess its functional relevance on the serum levels of reproductive hormones and on sperm parameters in men.

     

Subcortical damage and cortical functional changes in men and women with Fabry disease: a multifaceted MR study

PURPOSE: To prospectively compare brain magnetic resonance (MR) imaging and hydrogen 1 (1H) MR spectroscopy findings and to use functional MR imaging to explore the patterns of brain activation in men and women with Fabry disease (FD). MATERIALS AND METHODS: Eight men and eight women with FD (mean age, 38.8 years +/- 13.9 [standard deviation]) with absent or mild neurologic deficit and 16 healthy control subjects (eight men and eight women; mean age, 42.7 years +/- 15.3) gave informed consent to participate in the study, which was approved by the local ethical committee. Patients and control subjects underwent MR imaging, 1H MR spectroscopy of the frontal cortex and subcortical white matter, and functional MR imaging during repetitive flexion-extension of the last four fingers of the right hand. Extent of cerebral white matter damage was rated on fluid-attenuated inversion recovery MR images by using a visual score. Areas of activation were identified by using statistical parametric mapping software and the adoption of a height threshold of P < .001 (uncorrected) and an extent threshold of P < .05 (corrected). RESULTS: Men and women with FD showed a similar distribution of cerebral white matter changes, lacunar and cortical infarcts, small hemorrhages, and vertebrobasilar dolichoectasia. No significant (P > .05) difference was observed between patients with FD and control subjects for concentration of N-acetylaspartate, creatine, and choline. During the motor task, patients showed recruitment of additional cortical areas in comparison with control subjects. Increased activation of the contralateral sensorimotor area correlated (P = .002) with extent of white matter damage. CONCLUSION: Subcortical ischemic changes in men and women with FD are similar and are associated with increased recruitment of the sensorimotor network during a simple motor task, which might limit the functional effect of the white matter small-vessel disease.     

Raymond Prince and the R. M. Bucke memorial society for the study of religious experience

The study of the relationship between psychiatry and religion has become an issue of increasing importance for both research and clinical practice. This article presents the history of the R. M. Bucke Memorial Society for the Study of Religious Experience, established by Raymond Prince in Montréal in 1964 as one of the first scientific societies whose aim was to investigate those characteristics of religious experience of interest to psychiatry. It also describes some of Prince's own studies on religious experience.     

Clinical, psychological, and personality correlates of asceticism in anorexia nervosa: from saint anorexia to pathologic perfectionism

This study investigated the personality and clinical correlates of asceticism in 154 anorectic patients. Multiple linear regression models showed that asceticism was related to angry temperament, high control over anger, perfectionism, maturity fears, and number of vomiting episodes per week. These results suggest that the self-discipline and hypercontrol of anorectic patients are related to a temperament prone to angry feelings in subjects with a fear of becoming adult and with a trait of pathologic perfectionism.     

Fatal cranial injury in an individual from Messina (Sicily) during the times of the Roman Empire

Forensic and archaeological examinations of human skeletons can provide us with evidence of violence. In this paper, we present the patterns of two cranial lesions found on an adult male (T173) buried in a grave in the necropolis ‘Isolato 96’, Messina, Sicily, dating back to the Roman Empire (1st century BC - 1st century AD). The skull reveals two perimortem traumatic lesions, one produced by a sharp object on the right parietal bone and the other one on the left parietal bone, presumably the result of a fall. The interpretation of fracture patterns found in this cranium are an illustration of how forensic approaches can be applied with great benefit to archaeological specimens.     

50-Hz magnetic field impairs the expression of iron-related genes in the in vitro SOD1G93A model of amyotrophic lateral sclerosis

Abstract

Purpose: We characterized the response to the extremely low frequency magnetic field (ELF-MF) in an in vitro model of familial Amyotrophic Lateral Sclerosis (fALS), carrying two mutant variants of the superoxide dismutase 1 (SOD1) gene.

Materials and methods: SH-SY5Y human neuroblastoma cells, stably over-expressing the wild type, the G93A or the H46R mutant SOD1 cDNA, were exposed to either the ELF-MF (50?Hz, 1?mT) or the sham control field, up to 72?h. Analysis of (i) viability, proliferation and apoptosis, (ii) reactive oxygen species generation, and (iii) assessment of the iron metabolism, were carried out in all clones in response to the MF exposure.

Results: We report that 50-Hz MF exposure induces: (i) no change in proliferation and viability; (ii) no modulation of the intracellular superoxide and H₂O₂ levels; (iii) a significant deregulation in the expression of iron-related genes IRP1, MFRN1 and TfR1, this evidence being exclusive for the SOD1^G93A clone and associated with a slight (p?=?.0512) difference in the total iron content.

Conclusions: 50-Hz MF affects iron homeostasis in the in vitro SOD1^G93A ALS model.