Orofacial Granulomatosis.

Orofacial granulomatosis (OFG) is an uncommon chronic inflammatory disorder of the orofacial region. It is characterized by subepithelial noncaseating granulomas and has a spectrum of possible clinical manifestations ranging from subtle oral mucosal swelling to permanent disfiguring fibrous swelling of the lips and face. Etiopathogenesis is unknown.

Clinical utility of transperineal template-guided mapping biopsy of the prostate after negative magnetic resonance imaging-guided transrectal biopsy.

Purpose: We evaluated the prostate cancer detection with transperineal template-guided mapping biopsy in patients with elevated prostate-specific antigen and negative magnetic resonance imaging (MRI)-guided biopsy.

Materials And Methods: Totally 75 patients underwent transperineal template-guided mapping biopsy for prior negative MRI-guided (cognitive registration) biopsy during April 2013 to August 2014. Primary objective was to report clinically significant cancer detection in this cohort of patients.

Arrhythmic risk assessment in genotyped families with arrhythmogenic right ventricular cardiomyopathy.

Aims: Arrhythmogenic right-ventricular cardiomyopathy (ARVC) is a genetically determined disorder, mostly caused by mutations in genes encoding desmosomal proteins. We evaluated phenotype/genotype characteristics to predict the risk for the first major arrhythmic event in desmosomal-mutation-associated ARVC families.

Methods And Results: A cohort of 105 desmosomal-mutation carriers belonging to 39 consecutive ARVC families was evaluated.

A new broadband near-infrared spectroscopy system for in-vivo measurements of cerebral cytochrome-c-oxidase changes in neonatal brain injury.

We present a novel lens-based broadband near-infrared spectroscopy system to simultaneously measure cerebral changes in tissue oxygenation and haemodynamics via estimation of the changes in haemoglobin concentration; in addition to oxygen utilization via the measurement of the oxidation state of cytochrome-c-oxidase (CCO). We demonstrate the use of the system in a cohort of 6 newborn infants with neonatal encephalopathy in the Neonatal Intensive Care Unit for continuous measurement periods of up to 5 days. NIRS data was collected from above the frontal lobe on the left and right hemispheres simultaneously with systemic data to allow multimodal data analysis.

Can MRI replace serial biopsies in men on active surveillance for prostate cancer?

Purpose Of Review: The role of MRI in active surveillance to date has been in assessing men with low or intermediate-risk disease to identify those men harbouring higher risk disease undersampled at standard biopsy. MRI as a tool for reassessing men over the surveillance period, as an alternative to repeat standard biopsies, is also of interest.

Recent Findings: Multiple studies suggest that MRI early in active surveillance can identify men whose prostate cancer was undersampled at initial biopsy, and MRI-targeted biopsies can be offered.

Skeletal muscle involvement in cardiomyopathies.

The link between heart and skeletal muscle disorders is based on similar molecular, anatomical and clinical features, which are shared by the 'primary' cardiomyopathies and 'primary' neuromuscular disorders. There are, however, some peculiarities that are typical of cardiac and skeletal muscle disorders. Skeletal muscle weakness presenting at any age may indicate a primary neuromuscular disorder (associated with creatine kinase elevation as in dystrophinopathies), a mitochondrial disease (particularly if encephalopathy, ocular myopathy, retinitis, neurosensorineural deafness, lactic acidosis are present), a storage disorder (progressive exercise intolerance, cognitive impairment and retinitis pigmentosa, as in Danon disease), or metabolic disorders (hypoglycaemia, metabolic acidosis, hyperammonaemia or other specific biochemical abnormalities).

Arrhythmogenic right ventricular cardiomyopathy mimics: role of cardiovascular magnetic resonance.

Background: Cardiovascular magnetic resonance (CMR) is commonly used in patients with suspected arrhythmogenic right ventricular cardiomyopathy (ARVC) based on ECG, echocardiogram and Holter. However, various diseases may present with clinical characteristics resembling ARVC causing diagnostic dilemmas. The aim of this study was to explore the role of CMR in the differential diagnosis of patients with suspected ARVC.

Cardiomyopathies: focus on cardiovascular magnetic resonance.

Cardiomyopathies (CMPs) are a group of often inherited diseases characterised by abnormalities and associated dysfunction of heart muscle. In the past decade, cardiovascular magnetic resonance (CMR) has emerged as a powerful tool in their assessment, providing data that are complementary to other aspects of clinical evaluation. Key advantages of CMR are three-dimensional visualisation of the heart and its relationship to thoracic structures; gold-standard quantification of cardiac volumes and function, which can safely be repeated over time (no ionising radiation is involved); and tissue characterisation to detect focal scar and fatty infiltration.

Opportunistic and fungal infections of the lung.

Opportunistic infections are a major cause of morbidity and mortality in severely immunocompromised patients, such as those receiving chemotherapy or with haematological malignancy, aplastic anaemia or HIV infection, or recipients of solid-organ or stem cell transplants. In addition, the increasing use of biological therapies will result in more patients at risk of opportunistic infections, albeit to a lesser degree than classic causes of immunocompromise. The type and degree of immune defect dictates the profile of potential opportunistic pathogens; T-cell mediated defects increase the risk of viral (cytomegalovirus and respiratory viruses) and infections, whereas neutrophil defects are associated with bacterial pneumonia and invasive aspergillosis.

Evaluation of suspected right ventricular pathology in the athlete.

Rigorous training remodels the heart of elite endurance athletes to produce the phenotype of the "athlete's heart." This remodeling, which advantages cardiac performance, creates challenges in the diagnosis of cardiac disorders within this population. This is particularly so for right ventricular pathologies because of the limited number of studies documenting the impact of training on right ventricular remodeling.

Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy.

Aims: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease predominantly caused by mutations in desmosomal protein genes. Lamin A/C gene (LMNA) mutations are associated with dilated cardiomyopathy, conduction abnormalities and high incidence of sudden cardiac death. In this study, we screened a large cohort of ARVC patients for LMNA mutations.

Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria.

Background: With recognition of disease-causing genes in arrhythmogenic right ventricular cardiomyopathy, mutation analysis is being applied.

Methods And Results: The role of genotyping in familial assessment for arrhythmogenic right ventricular cardiomyopathy was investigated, including the prevalence of mutations in known causal genes, the penetrance and expressivity in genotyped families, and the utility of the 2010 Task Force criteria in clinical diagnosis. Clinical and molecular genetic evaluation was performed in 210 first-degree and 45 second-degree relatives from 100 families.

ESHRE's good practice guide for cross-border reproductive care for centers and practitioners.

This paper outlines ESHRE's guidance for centers and physicians providing fertility treatment to foreign patients. This guide aims to ensure high-quality and safe assisted reproduction treatment, taking into account the patients, their future child and the interests of third-party collaborators such as gametes donors and surrogates. This is achieved by including considerations of equity, safety, efficiency, effectiveness (including evidence-based care), timeliness and patient centeredness.

Light penetration in the human prostate: a whole prostate clinical study at 763 nm.

Photodynamic therapy (PDT) is being investigated as a treatment for localized prostate cancer. Photodynamic therapy uses a photosensitizing drug which is activated by a specific wavelength of light, in the presence of oxygen. The activated drug reacts with tissue oxygen to produce reactive oxygen species which are responsible for localized tissue necrosis.

Cerebral microembolization during primary total hip arthroplasty and neuropsychologic outcome: a pilot study.

Background: Intraoperative cerebral microembolization occurs in a substantial proportion of patients undergoing THA. Historically, postoperative cognitive dysfunction has been attributed to different factors, including anesthesia, but the influence of the surgery has not been thoroughly examined.

Questions/purposes: We conducted a prospective, controlled clinical trial to assess intraoperative cerebral microembolization during THA and neuropsychologic outcome.

Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations.

Background: Desmoplakin plays a vital role in cell adhesion, linking the transmembrane desmosomal complex to the cytoskeletal network. Clues to the biological significance of desmoplakin have emerged from the embryonic lethal phenotype of null mice and from naturally occurring human desmoplakin mutations, which cause cardiocutaneous phenotypes. INDEX CASE: In this study, we describe a child who presented with the unique constellation of bullous dermatosis, profound plantar keratoderma, alopecia totalis and cardiomyopathy leading to sudden cardiac death at the age of 9 years.

Race, prematurity and immaturity.

Compared to white Europeans, Blacks and South Asians have a significantly shorter mean gestational length and a higher incidence of preterm birth. For any given gestational age before 37 weeks, Black and South Asian babies have less risk of respiratory distress syndrome, and the survival rate in Black babies is higher than white Europeans. From 37 weeks of gestation onwards, the perinatal mortality rate in Blacks is higher than in white Europeans, and this appears to be associated with a higher rate of meconium passage and respiratory morbidity.

Hypomethylation of WNT5A, CRIP1 and S100P in prostate cancer.

Oligoarray analysis of a matched pair of prostate cancer and normal cell lines derived from the same radical prostatectomy specimen identified 113 candidate hypomethylated genes that were overexpressed in the cancer cells and contained CpG islands. Hypomethylation of wingless-related MMTV integration site 5A (WNT5A), S100 calcium-binding protein P (S100P) and cysteine-rich protein 1(CRIP1) was confirmed in the cancer cells by bisulfite sequencing. Treatment of the corresponding normal prostate epithelial cells 1542-NPTX with the DNA methyltransferase inhibitor 5-Aza-2'-deoxycytidine (5-aza-CdR) induced higher levels of mRNA expression and partial loss of methylation on these genes.

Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease.

Aims: Mutations in the desmoglein-2 (DSG2) gene have been reported in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) but clinical information regarding the associated phenotype is at present limited. In this study, we aimed to clinically characterize probands and family members carrying a DSG2 mutation.

Methods And Results: We investigated 86 Caucasian ARVC patients for mutations in DSG2 by direct sequencing and detected eight novel mutations in nine probands.

Mutation screening of the PTPN11 gene in hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disease and a major cause of sudden death. It is an autosomal dominant disorder predominantly caused by mutations in genes encoding for sarcomeric proteins. Only 50-60% of HCM probands have mutations in known genes suggesting the presence of additional disease genes.

Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy.

Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disorder characterized by loss of cardiomyocytes and their replacement by adipose and fibrous tissue. It is considered a disease of cell adhesion because mutations in desmosomal genes, desmoplakin and plakoglobin, have been implicated in the pathogenesis of ARVC. In a recent report, mutations in plakophilin-2, a gene highly expressed in cardiac desmosomes, have been shown to cause ARVC.