The added value of real-time three-dimensional echocardiography in the diagnosis of supravalvar mitral ring: case report and review of the literature

Supravalvular mitral stenosis is a rare condition characterized by an abnormal ridge, with one or two orifices, covering and obstructing the mitral valve. Preoperative identification of the supravalvular ring is the target for obtaining good surgical results. Two-dimensional echocardiogram and transesophageal echocardiography both failed in reaching this objective. In this case, we showed that three-dimensional echocardiogram is a new technique that provides additional and more accurate echocardiographic characterization of congenital supravalvular mitral stenosis.     

Molecular detection and genotyping of human papillomavirus in cervical carcinoma biopsies in an area of high incidence of cancer from Moroccan women

Cervical cancer is a leading cause of cancer‐related deaths in developing countries, and the human papillomavirus (HPV) is linked etiologically to cervical cancer. Eighty nine cervical carcinoma biopsies collected from women visiting the Oncologic Center in Casablanca (Centre Hospitalier Universitaire Ibn Rochd, Morocco) for cervical cancer symptoms, were screened for HPV DNA by polymerase chain reaction amplification with subsequent typing by hybridization with specific oligonucleotides for HPV types 16, 18, 31, 33, 45, and 59. Using very high stringency hybridization the HPV types could be easily distinguished. After preliminary clinical sorting, 92% (82/89) of the samples were found to be HPV‐positive. Among the samples infected by a single HPV, type 16 was the most frequent 36.6% (30/82) of the positive samples, followed by HPV 18; 19.5% (16/82). Double or even multiple infections by the different HPV types were also detected (35.5% of the positive samples); dual infections were the more frequent, with the following combinations of HPVs: HPV16/HPV18 (21% of the positives samples) and HPV16/HPV45 (8.5%). J. Med. Virol. 81:678–684, 2009 © 2009 Wiley‐Liss, Inc.     

Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila

Auditory neuropathy is a rare form of deafness characterized by an absent or abnormal auditory brainstem response with preservation of outer hair cell function. We have identified Diaphanous homolog 3 (DIAPH3) as the gene responsible for autosomal dominant nonsyndromic auditory neuropathy (AUNA1), which we previously mapped to chromosome 13q21-q24. Genotyping of additional family members narrowed the interval to an 11-Mb, 3.28-cM gene-poor region containing only four genes, including DIAPH3. DNA sequencing of DIAPH3 revealed a c.-172G > A, g. 48G > A mutation in a highly conserved region of the 5′ UTR. The c.-172G > A mutation occurs within a GC box sequence element and was not found in 379 controls. Using genome-wide expression arrays and quantitative RT-PCR, we demonstrate a 2- to 3-fold overexpression of DIAPH3 mRNA in lymphoblastoid cell lines from affected individuals. Likewise, a significant increase (≈1.5-fold) in DIAPH3 protein was found by quantitative immunoblotting of lysates from lymphoblastoid cell lines derived from affected individuals in comparison with controls. In addition, the c.-172G > A mutation is sufficient to drive overexpression of a luciferase reporter. Finally, the expression of a constitutively active form of diaphanous protein in the auditory organ of Drosophila melanogaster recapitulates the phenotype of impaired response to sound. To date, only two genes, the otoferlin gene OTOF and the pejvakin gene PJVK, are known to underlie nonsyndromic auditory neuropathy. Genetic testing for DIAPH3 may be useful for individuals with recessive as well as dominant inheritance of nonsyndromic auditory neuropathy.     

Skin responses to topical dehydroepiandrosterone: implications in antiageing treatment?

Background  Although low dehydroepiandrosterone (DHEA) is suspected to have a role in skin ageing, little information is available on the mechanisms potentially involved. Objectives  To obtain information on androgen receptor (AR) and procollagen expression in ageing skin during DHEA treatment. Methods  A placebo‐controlled, randomized, prospective study was performed with 75 postmenopausal women aged 60–65 years. The women were treated twice daily for 13 weeks with 3·0 mL of placebo or 0·1%, 0·3%, 1% or 2% DHEA cream applied on the face, arms, back of hands, upper chest and right thigh where 2‐mm biopsies were collected before and after treatment. Results  Although the overall structure of the epidermis was not significantly affected at the light microscopy level, AR expression examined by immunocytochemistry was markedly increased by DHEA treatment. In the dermis, the expression levels of procollagen 1 and 3 mRNA estimated by in situ hybridization were increased by DHEA treatment. In addition, the expression of heat shock protein (HSP) 47, a molecule believed to have chaperone‐like functions potentially affecting procollagen biosynthesis, was also found by immunocytochemistry evaluation to be increased, especially at the two highest DHEA doses. Conclusion  These data suggest the possibility that topical DHEA could be used as an efficient and physiological antiageing skin agent.     

Prevalence of mental disorders in primary care: results from the diagnosis and treatment of mental disorders in primary care study (DASMAP)

Objective  

Previous epidemiological studies have revealed a high prevalence of mental disorders among primary care (PC) patients. However, most studies have methodological limitations (e.g. absence of structured clinical interviews, two-phase designs) that affect the generalizability of their results. The main objective of the present study was to estimate the lifetime and 12-month prevalence of mental disorders in the PC of Catalonia (Spain), using structured clinical interviews and a one-phase design.