Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome.

Mutations in the X-linked androgen receptor (AR) gene cause androgen insensitivity syndrome (AIS), resulting in an impaired embryonic sex differentiation in 46,XY genetic men. Complete androgen insensitivity (CAIS) produces a female external phenotype, whereas cases with partial androgen insensitivity (PAIS) have various ambiguities of the genitalia. Mild androgen insensitivity (MAIS) is characterized by undermasculinization and gynecomastia. Here we describe a 2-month-old 46,XY female patient, with all of the characteristics of CAIS. Defects in testosterone (T) and dihydrotestosterone (DHT) synthesis were excluded. Sequencing of the AR gene showed the presence in exon 6 of a T to C transition in the second base of codon 790, nucleotide position 2369, causing a novel missense Leu790Pro mutation in the ligand-binding domain of the AR protein. The identification of a novel AR mutation in a girl with CAIS provides significant information due to the importance of missense mutations in the ligand-binding domain of the AR, which are able to induce functional abnormalities in the androgen binding capability, stabilization of active conformation, or interaction with coactivators.     

Use of dithiothreitol to improve the diagnosis of prosthetic joint infections

Diagnosis of prosthetic joint infections (PJIs) remains a challenge for microbiologists, despite new techniques for bacteria isolation have been developed in recent years. A widely recognized standard method has not yet been indicated mainly because of limitations due difficult procedures and need of dedicated instrumentation. We evaluated the ability of a sulfhydryl compound routinely used in microbiology laboratories, dithiothreitol (DTT), to dislodge bacteria from biofilm, keeping them alive and cultivable for identification and antibiotic susceptibility testing. We compared DTT treatment against sonication of prosthesis and culture of periprosthetic tissues, in order to establish if it could be introduced in routine microbiological diagnosis of PJIs. The study was conducted on 76 patients, 34 with aseptic loosening of their prosthesis and 42 who were diagnosed for PJI. DTT treatment gave results similar to sonication in terms of bacterial yielding. Sonication provided higher sensitivity (71.4%) and specificity (94.1%) respect to periprosthetic tissue culture, while DTT showed the same specificity of sonication but a better sensitivity (85.7%), especially when the causative microorganism was Staphylococcus epidermidis. In conclusion, we demonstrated that DTT could be used for PJIs diagnosis, thanks to its ease of use and its high sensitivity and specificity. © 2013 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 31:1694–1699, 2013     

Use of a new hemicellulose dressing (Veloderm) for the treatment of split-thickness skin graft donor sites A within-patient controlled study

A multi-centre, open, within-patient controlled study was performed on 23 adult burnt patients to investigate the effectiveness, safety and tolerability of Veloderm^® in comparison with Algisite M™ and Jaloskin^® in split-thickness skin graft donor site care. The areas dressed with Veloderm^® completely healed within 10–13 days in a significant higher proportion than the other two dressings (47.6% for Veloderm^® versus 26.3% for Algisite M™ and 10% for Jaloskin^®, P < 0.03), showing during the whole study less incidence of exudates and of peri-lesional erythema. The aesthetic outcome of the treated lesions after healing was significantly better for Veloderm^® (P = 0.0016). Veloderm^® and Jaloskin^® required very few renewals of the medication during the first week of treatment, while Algisite M™ needed several multiple re-dressings. Veloderm^® was judged better than the other two treatments as far as the acceptability (P < 0.001), ease of use (P < 0.001) and efficacy (P < 0.00001). Both pain during application or at removal of dressings and local infections were negligible with all treatments. No scars were formed in any skin donor site. In conclusion Veloderm^® is a safe and effective dressing for the re-epithelialization of the skin graft donor sites: it showed higher activity than the other two compared dressings.     

Dermatological aspects of cerebrovascular diseases

Neurological symptoms are sometimes triggered by the same mechanisms as are skin manifestations. They include genetic conditions like the epidermal nevus syndrome, the Sneddon syndrome, Fabry disease and others, as well as certain inflammatory disorders like erythematous lupus, Bechet disease. Basically all conditions giving rise to anticoagulation processes may cause simultaneously neurological and cutaneous manifestations. Cerebrovascular stroke is the third most common condition of death in the developed world after cancer and ischemic heart disease. The mechanisms responsible for development of skin manifestations in patients afflicted by stroke are shortly reviewed. Stroke may also influence the already existent skin diseases.     

Prediction of clinical outcomes in Crohn’s disease by using confocal laser endomicroscopy: results from a prospective multicenter study

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Tenofovir-based rescue therapy for advanced liver disease in 6 patients coinfected with HIV and hepatitis B virus and receiving lamivudine.

We summarize the clinical history and laboratory results following the introduction of tenofovir among 6 patients coinfected with human immunodeficiency virus (HIV) and hepatitis B virus (HBV) who presented with severe liver disease while receiving lamivudine-based highly active antiretroviral therapy. In all cases, the introduction of tenofovir led to a sustained undetectable HBV and HIV loads, with marked clinical and laboratory improvement in liver function. We provide supporting evidence for the role of tenofovir in the management of advanced HBV infection in HIV-positive patients after the development of lamivudine resistance.     

ALK-negative lung inflammatory myofibroblastic tumor in a young adult: A case report and literature review of molecular alterations

Rationale:Inflammatory myofibroblastic tumor (IMT) is a rare mesenchymal tumor that is prevalent among children and adolescents. Surgery is the most important therapeutic approach for IMT and complete resection is recommended. Although 50% of IMTs show anaplastic lymphoma kinase (ALK) rearrangements, crizotinib has proven an effective therapeutic approach. However, the genetic landscape of this tumor is still not fully understood and treatment options are limited, especially in the majority of ALK-negative tumors.Patient concerns:We describe the clinical case of a healthy 18-year-old female in whom a pulmonary nodule was incidentally detectedDiagnoses:Following a small increase in the size of the nodule, the patient underwent both ¹⁸FDG-PET/CT and ⁶⁸Ga-PET/CT, resulting in a suspicion of bronchial hamartoma.Interventions:The patient underwent surgery and a salivary gland-like lung tumor was diagnosed.Outcomes:After surgery, the patient was referred to our cancer center, where a review of the histology slides gave a final diagnosis of ALK-negative lung IMT. Given the histology, it was decided not to administer adjuvant therapy and the patient was placed in a 3-monthly follow-up program. The patient is still disease-free 2 years post-surgery.Lessons:Although there is no standard of care for the treatment of IMT, identifying genomic alterations could help to redefine the management of patients with negative-ALK disease. Our review of the literature on IMT and other kinase fusions revealed, in addition to ALK rearrangements, the potential association of ROS1, NTRK, RET, or PDGFR beta alterations with the tumor.