HIV testing among female sex workers in Andhra Pradesh, India.

Of 6648 female sex workers (FSW) in 13 districts of Andhra Pradesh state in India, only 7.9% reported having undergone HIV testing, and three-quarters of the rest were unwilling to undergo HIV testing in the future. The risk of HIV infection as a result of the non-use of condoms was higher among FSW who reported not having been tested and were also unwilling to get tested, and they also held significantly more negative beliefs about HIV/AIDS

Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: case report.

Prokineticin 2 (Prok2) or prokineticin-receptor2 (Prok-R2) gene mutations are associated with Kallmann syndrome (KS). We describe a new homozygous mutation of Prok-R2 gene in a man displaying KS with an apparent reversal of hypogonadism. The proband, offspring of consanguineous parents, presented at age 19 years with absent puberty, no sense of smell, low testosterone and gonadotrophin levels. Magnetic resonance imaging showed olfactory bulb absence. The patient achieved virilization and spermatogenesis with gonadotrophin administration. Two years after discontinuing hormonal therapy, he maintained moderate oligozoospermia and normal testosterone levels. Prok2 and Prok- R2 gene sequence analyses were performed. The proband had a homozygous mutation in Prok-R2 exon 2 that harbours the c.T820>A base substitution, causing the introduction of an aspartic acid in place of valine at position 274 (Val274Asp). His mother had the same mutation in heterozygous state. This report describes a novel homozygous mutation of Prok-R2 gene in a man with variant KS, underlying the role of Prok-R2 gene in the olfactory and reproductive system development in humans. Present findings indicate that markedly delayed activation of gonadotrophin secretion may occur in some KS cases with definite gene defects, and that oligozoospermia might result from a variant form of reversible hypogonadotrophic hypogonadism

Robust and language-independent acoustic features in Parkinson's disease

Introduction: The analysis of vocal samples from patients with Parkinson's disease (PDP) can be relevant in supporting early diagnosis and disease monitoring. Intriguingly, speech analysis embeds several complexities influenced by speaker characteristics (e.g., gender and language) and recording conditions (e.g., professional microphones or smartphones, supervised, or non-supervised data collection). Moreover, the set of vocal tasks performed, such as sustained phonation, reading text, or monologue, strongly affects the speech dimension investigated, the feature extracted, and, as a consequence, the performance of the overall algorithm. Methods: We employed six datasets, including a cohort of 176 Healthy Control (HC) participants and 178 PDP from different nationalities (i.e., Italian, Spanish, Czech), recorded in variable scenarios through various devices (i.e., professional microphones and smartphones), and performing several speech exercises (i.e., vowel phonation, sentence repetition). Aiming to identify the effectiveness of different vocal tasks and the trustworthiness of features independent of external co-factors such as language, gender, and data collection modality, we performed several intra- and inter-corpora statistical analyses. In addition, we compared the performance of different feature selection and classification models to evaluate the most robust and performing pipeline. Results: According to our results, the combined use of sustained phonation and sentence repetition should be preferred over a single exercise. As for the set of features, the Mel Frequency Cepstral Coefficients demonstrated to be among the most effective parameters in discriminating between HC and PDP, also in the presence of heterogeneous languages and acquisition techniques. Conclusion: Even though preliminary, the results of this work can be exploited to define a speech protocol that can effectively capture vocal alterations while minimizing the effort required to the patient. Moreover, the statistical analysis identified a set of features minimally dependent on gender, language, and recording modalities. This discloses the feasibility of extensive cross-corpora tests to develop robust and reliable tools for disease monitoring and staging and PDP follow-up

How much attention is needed towards men who sell sex to men for HIV prevention in India?

BACKGROUND: HIV prevention in India has mostly focussed on heterosexual transmission. Data on homosexual transmission are not readily available from India. We therefore assessed the probability of acquiring and transmitting HIV for men who sell sex to men and compared this with women who sell sex in India. METHODS: Sexual behaviour characteristics of 6661 men who have sex with men and 6648 women who sell sex were obtained in the Indian state of Andhra Pradesh through confidential interviews. These, along with estimates of HIV rates among them and risk of HIV transmission per unprotected sex act from other sources, were used to calculate their annual probability of acquiring and transmitting HIV. RESULTS: Of 6661 men who have sex with men in this sample, 1776 (26.7%) had sold sex to men. For every 1000 men who sell sex to men, annually 146 (95% confidence interval [CI] 116–179) would acquire HIV and HIV would be transmitted to 55 (95% CI 42–71) men who do not sell sex or women. These estimates were higher by 6.7 (95% CI 4.9–9.2) times for acquiring HIV and 2.5 (95% CI 2.0–3.2) times for transmitting HIV to sex partners outside their group, as compared with similar estimates for women who sell sex. In this sample, the average annual probability of acquiring HIV was higher among men who have sex with men but do not sell sex as compared with women who sell sex. CONCLUSION: These data indicate that men who sell sex to men are at much higher risk of acquiring and transmitting HIV than women who sell sex. Therefore, men who sell sex to men and their clients warrant substantial attention for comprehensive HIV prevention in India

High risk of HIV in non-brothel based female sex workers in India

BACKGROUND: Heterosexual contact is the most common mode of HIV transmission in India that is largely linked to sex work. We assessed the non-use of condoms in sex work and with regular sex partners by female sex workers (FSWs), and identified its associations that could assist in planning HIV prevention programmes. METHODS: Detailed documentation of various aspects of sex work, and sexual behaviour with regular sex partners, was done through confidential interviews for 6648 FSWs in 13 districts in the Indian state of Andhra Pradesh. Multivariate analysis was done to understand condom non-use with clients. RESULTS: 5010 (75.4%), 1499 (22.5%), and 139 (2.1%) FSWs were street-, home-, and brothel-based, respectively. Of the total 6648 FSWs, 6165 (92.7%) had penetrative vaginal/anal sex with at least one client in the last 15 days, and of these 2907 (47.2%; 95% CI 41.2–53.2%) reported non-use of condom with at least one of her last three clients. Lack of knowledge that HIV could be prevented (odds ratio 5.01; 95% CI 4.38–5.73), no access to free condoms (odds ratio 3.45; 95% CI 2.99–3.98), being street-based as compared with brothel-based (odds ratio 3.36; 95% CI 1.87–6.04), and no participation in FSW support groups (odds ratio 2.02; 95% CI 1.50–2.70) were the most significant predictors of condom non-use with clients. Other associations included lower social support, lower income, age >24 years, illiteracy, and living in medium-size urban or rural areas. Of the 2582 who had penetrative sex with regular sex partner within the last 7 days, 2428 (94%; 95% CI 92.1–95.9%) had not used condom at last sex, and 1032 (41.8%) had neither used condom consistently with clients nor with regular sex partner. CONCLUSION: About half the FSWs do not use condom consistently with their clients in this Indian state putting them at high risk of HIV infection. Non-brothel-based FSWs, who form the majority of sex workers in India, were at a significantly higher risk of HIV infection as compared with brothel-based FSWs. With their high vulnerability, the success of expansion of HIV prevention efforts will depend on achieving and sustaining an environment that enables HIV prevention with the non-brothel based FSWs

Two Males with SRY-Positive 46,XX Testicular Disorder of Sex Development

The 46,XX testicular disorder of sex development (46,XX testicular DSD) is a rare phenotype associated with disorder of the sex chromosomes. We describe the clinical, molecular, and cytogenetic findings of a 16-and a 30-year-old male patient with sex-determining region Y (SRY)-positive 46,XX testicular DSD. Chromosomal analysis revealed 46,XX karyotype. Fluorescence in situ hybridization (FISH) showed the SRY region translocated to the short arm of the X chromosome. The presence of the SRY gene was also confirmed by polymerase chain reaction (PCR). The X chromosome inactivation (XCI) assay showed that both patients have a random pattern of X chromosome inactivation. This report compares the symptoms and features of the SRY-positive 46,XX testicular DSD patients. © 2013 Informa Healthcare USA, Inc

Magnesium reduces calcification in bovine vascular smooth muscle cells in a dose-dependent manner

WOS: 000300421300010PubMed ID: 21750166Vascular calcification (VC), mainly due to elevated phosphate levels, is one major problem in patients suffering from chronic kidney disease. In clinical studies, an inverse relationship between serum magnesium and VC has been reported. However, there is only few information about the influence of magnesium on calcification on a cellular level available. Therefore, we investigated the effect of magnesium on calcification induced by beta-glycerophosphate (BGP) in bovine vascular smooth muscle cells (BVSMCs). BVSMCs were incubated with calcification media for 14 days while simultaneously increasing the magnesium concentration. Calcium deposition, transdifferentiation of cells and apoptosis were measured applying quantification of calcium, von Kossa and Alizarin red staining, real-time reverse transcription-polymerase chain reaction and annexin V staining, respectively. Calcium deposition in the cells dramatically increased with addition of BGP and could be mostly prevented by co-incubation with magnesium. Higher magnesium levels led to inhibition of BGP-induced alkaline phosphatase activity as well as to a decreased expression of genes associated with the process of transdifferentiation of BVSMCs into osteoblast-like cells. Furthermore, estimated calcium entry into the cells decreased with increasing magnesium concentrations in the media. In addition, higher magnesium concentrations prevented cell damage (apoptosis) induced by BGP as well as progression of already established calcification. Higher magnesium levels prevented BVSMC calcification, inhibited expression of osteogenic proteins, apoptosis and further progression of already established calcification. Thus, magnesium is influencing molecular processes associated with VC and may have the potential to play a role for VC also in clinical situations.Fresenius Medical Care Deutschland GmbH, GermanyThis study was supported by Fresenius Medical Care Deutschland GmbH, Germany

New understandings of the genetic basis of isolated idiopathic central hypogonadism

Idiopathic hypogonadotropic hypogonadism is a rare disease that is characterized by delayed/absent puberty and/or infertility due to an insufficient stimulation of an otherwise normal pituitary-gonadal axis by gonadotrophin-releasing hormone (GnRH) action. Because reduced or normal luteinizing hormone (LH)/follicle-stimulating hormone (FSH) levels may be observed in the affected patients, the term idiopathic central hypogonadism (ICH) appears to be more appropriate. This disease should be distinguished from central hypogonadism that is combined with other pituitary deficiencies. Isolated ICH has a complex pathogenesis and is fivefold more prevalent in males. ICH frequently appears in a sporadic form, but several familial cases have also been reported. This finding, in conjunction with the description of numerous pathogenetic gene variants and the generation of several knockout models, supports the existence of a strong genetic component. ICH may be associated with several morphogenetic abnormalities, which include osmic defects that, with ICH, constitute the cardinal manifestations of Kallmann syndrome (KS). KS accounts for approximately 40% of the total ICH cases and has been generally considered to be a distinct subgroup. However, the description of several pedigrees, which include relatives who are affected either with isolated osmic defects, KS, or normo-osmic ICH (nICH), justifies the emerging idea that ICH is a complex genetic disease that is characterized by variable expressivity and penetrance. In this context, either multiple gene variants or environmental factors and epigenetic modifications may contribute to the variable disease manifestations. We review the genetic mechanisms that are presently known to be involved in ICH pathogenesis and provide a clinical overview of the 227 cases that have been collected by the collaborating centres of the Italian ICH Network

Lista bibliografica

Questa lista bibliografica contiene il secondo aggiornamento della bibliografia della Lisy e deriva dall’assemblaggio da parte della redazione (M. Serdoz ed E. Panfili) dei contributi parziali stilati dai gruppi regionali