Spermatogenesis disorder is associated with mutations in the ligand-binding domain of an androgen receptor.

Androgens play a key role in spermatogenesis, and their functions are mediated by the androgen receptor (AR). Some mutations in the AR gene have the potential to alter the primary structure and function of the protein. The aim of this study was to investigate the AR gene mutations in a cohort of males with idiopathic azoospermia referred to Royan Institute. Fifty-one biopsy samples were obtained for routine clinical purposes from 15 men with hypospermatogenesis (HS), 17 patients with maturation arrest (MA) and 19 patients with Sertoli cell-only syndrome (SCOS). The AR cDNAs were prepared from tissue mRNAs and were sequenced. One synonymous variant and three nonsynonymous protein coding single nucleotide polymorphisms (nsSNPs) were detected. Protein structure prediction demonstrated that the S815I and M746T nonsynonymous variants would affect protein structure and its normal function. Our study suggests that mutations in the AR gene would change or disturb the receptor's normal activity. Although these variations may influence spermatogenesis, it is difficult to say that they lead to a lack of spermatogenesis.

Evaluation of the factors influencing brain language laterality in presurgical planning.

Brain lesions cause functional deficits, and one treatment for this condition is lesion resection. In most cases, presurgical planning (PSP) and the information from laterality indices are necessary for maximum preservation of the critical functions after surgery. Language laterality index (LI) is reliably estimated using functional magnetic resonance imaging (fMRI); however, this measure is under the influence of some external factors. In this study, we investigated the influence of a number of factors on language LI, using data from 120 patients (mean age=35.65 (±13.4) years) who underwent fMRI for PSP. Using two proposed language tasks from our previous works, brain left hemisphere was showed to be dominant for the language function, although a higher LI was obtained using the "Word Generation" task, compared to the "Reverse Word Reading". In addition, decline of LIs with age, and lower LI when the lesion invaded brain language area were observed. Meanwhile, gender, lesion side (affected hemisphere), LI calculation strategy, and fMRI analysis Z-values did not statistically show any influences on the LIs. Although fMRI is widely used to estimate language LI, it is shown here that in order to present a reliable language LI and to correctly select the dominant hemisphere of the brain, the influence of external factors should be carefully considered.

High frequency TMS for the management of Borderline Personality Disorder: a case report.

OBJECTIVE: To assess the effect of repetitive trans-cranial magnetic stimulation (rTMS) therapy in the management of Borderline Personality Disorder (BPD). METHOD: The subject was a 22 years old girl. She was first diagnosed with BPD after one of her suicidal attempts about two years ago. She received 10 sessions of high-frequency TMS over her left dorsolateral prefrontal cortex. Assessment was done before treatment, exactly after the last session, one and three months after treatment. Functional Scanning was performed before and after the TMS sessions and one month after the last session. RESULTS: Results of block design analysis revealed increased activity in amygdala, Superior Temporal Gyrus, Superior Frontal Gyrus, Middle Frontal Gyrus and parahippocampus in negative-neutral and negative-rest contrasts. In contrast to the mentioned areas that exhibited decrease in activity after treatment, we found that middle temporal gyrus and post central gyrus were activated by the emotional stimuli. The changes in brain activity were associated with decrease in BPD severity (measured by BPD severity index) and depression and impulsivity level. CONCLUSION: Regardless of the limitations of this study, our findings suggest a positive role for rTMS in the management of BPD.