The challenges of androgen insensitivity syndrome

Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic syndrome that occurs as result of an androgen receptor mutation; it affects the normal masculinization process in chromosomal male patients. More than 900 androgen receptor mutations that can lead to AIS have been identified. The complete androgen insensitivity is characterized by a total lack of response to androgens, usually in patients with 46XY karyotype but with feminine phenotype. Primary amenorrhoea and inguinal swellings in female patients are the main signs that could raise suspicion for this syndrome. Patients with partial androgen insensitivity have ambiguous genitalia at birth and gynecomastia during puberty, whereas those with mild androgen insensitivity present a normal male phenotype but altered spermatogenesis during adulthood and pubertal gynecomastia. The diagnosis of AIS often proves to be a challenge; its management is complex and requires a multidisciplinary approach to meet decision-making challenges in sex assignment, fertility and timing of gonadectomy, psychological outcomes and genetic counselling.     

Changes in mitral valve geometry after percutaneous valve repair with the MitraClip® System

The International Journal of Cardiovascular Imaging - The aim of our study was to assess the anatomical changes of the mitral valve apparatus after percutaneous repair with the MitraClip®...     

The risk of tuberculosis in transplant candidates and recipients: a TBNET consensus statement

Tuberculosis (TB) is a possible complication of solid organ and hematopoietic stem cell transplantation. The identification of candidates for preventive chemotherapy is an effective intervention to protect transplant recipients with latent infection with Mycobacterium tuberculosis from progressing to active disease. The best available proxy for diagnosing latent infection with M. tuberculosis is the identification of an adaptive immune response by the tuberculin skin test or an interferon-γ based ex vivo assay. Risk assessment in transplant recipients for the development of TB depends on, among other factors, the locally expected underlying prevalence of infection with M. tuberculosis in the target population. In areas of high prevalence, preventive chemotherapy for all transplant recipients may be justified without immunodiagnostic testing while in areas of medium and low prevalence, preventive chemotherapy should only be offered to candidates with positive M. tuberculosis-specific immune responses. The diagnosis of TB in transplant recipients can be challenging. Treatment of TB is often difficult due to substantial interactions between anti-TB drugs and immunosuppressive medications. This management guideline summarises current knowledge on the prevention, diagnosis and treatment of TB related to solid organ and hematopoietic stem cell transplantation and provides an expert consensus on questions where scientific evidence is still lacking.     

Diagnosis of Myocardial Abscess After Acute Myocardial Infarction by Transesophageal Echocardiography: Case Report and Short Review of Published Data

A 56-year-old man received thrombolysis for an anterior myocardial infarction after chest pain for 18 hours. Ten days later he was readmitted with fever and hemodynamic deterioration. Transesophageal echocardiography demonstrated a thin-walled cavity at the apex of the left ventricle. At operation he was found to have a myocardial abscess, and after excision and antibiotics his subsequent clinical course was uneventful. We review the echocardiographic diagnosis and clinical features of myocardial abscess complicating acute infarction. Presumed etiologic factors in our patient included late thrombolysis, mural thrombus, and poor dental hygiene leading to septicaemia.     

Ventral striatal activation during attribution of stimulus saliency and reward anticipation is correlated in unmedicated first episode schizophrenia patients

Patients with schizophrenia show deficits in motivation, reward anticipation and salience attribution. Several functional magnetic resonance imaging (fMRI) investigations revealed neurobiological correlates of these deficits, raising the hypothesis of a common basis in midbrain dopaminergic signaling. However, investigations of drug-na?ve first-episode patients with comprehensive fMRI tasks are still missing. We recruited unmedicated schizophrenia spectrum patients (N=27) and healthy control subjects (N=27) matched for sex, age and educational levels. An established monetary reward anticipation task in combination with a novel task aiming at implicit salience attribution without the confound of monetary incentive was applied. Patients showed reduced right ventral striatal activation during reward anticipation. Furthermore, patients with a more pronounced hypoactivation attributed more salience to neutral stimuli, had more positive symptoms and better executive functioning. In the patient group, a more differentially active striatum during reward anticipation was correlated positively to differential ventral striatal activation in the implicit salience attribution task. In conclusion, a deficit in ventral striatal activation during reward anticipation can already be seen in drug-na?ve, first episode schizophrenia patients. The data suggest that rather a deficit in differential ventral striatal activation than a generally reduced activation underlies motivational deficits in schizophrenia and that this deficit is related to the aberrant salience attribution.     

Healing Kinetics of Periapical Lesions Enhanced by the Apexum Procedure: A Clinical Trial

The new Apexum procedure (Apexum Ltd, Or-Yehuda, Israel) is based on a minimally invasive removal of periapical chronically inflamed tissues through a root canal access. Its goal is to enhance healing kinetics of periapical lesions. This clinical study was conducted to explore the safety and efficacy of this procedure. The Apexum procedure was applied, as a supplementary step, during conventional root canal treatment in 48 teeth with periapical lesions. Safety and efficacy were clinically and radiographically assessed and teeth of the Apexum-treated group were compared with 39 similar teeth treated by the same endodontic procedure with no additional intervention. No adverse events occurred in either the Apexum-treated or conventional treatment groups. Furthermore, healing kinetics was significantly enhanced in the Apexum-treated group (p < 0.005). At 3 and 6 months, 87% and 95% of the lesions in the Apexum-treated group, respectively, presented advanced or complete healing, whereas only 22% and 39% of the lesions in the conventional treatment group presented this degree of healing at 3 and 6 months, respectively.