Magnetic resonance imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: Pattern refinement and implications for clinical trials.

Objective: Therapeutic perspectives have brought attention to the development of instruments to accurately evaluate the degree of pathology in patients with facioscapulohumeral muscular dystrophy. We aimed to analyze the type and extent of muscle involvement on magnetic resonance imaging (MRI) in a large cohort of patients representative of the broad clinical spectrum of this disease.

Methods: Pelvic and lower limb muscle MRI scans of 269 symptomatic individuals and 19 nonpenetrant gene carriers were assessed.

Congruence of group therapist and group member alliance judgments in emotionally focused group therapy for binge eating disorder.

We used West and Kenny's (2011) Truth-and-Bias (T&B) model to examine how accurately group therapists' judge their group members' alliances, and the effects of therapist-patient congruence in alliance ratings on patient outcomes. Were considered: (a) directional bias - therapists' tendency to over- or underrate their clients' alliances, (b) truth strength - clients' alliance ratings, and (c) bias strength - therapists' tendency to conflate their alliance ratings for a specific group member with the average alliance ratings for the other members of the group. There were 118 obese adult patients with binge-eating disorder that were treated by 8 therapists with Emotionally Focused Group Therapy.

Hemodynamic comparison between Trifecta and Freestyle valves implanted in small aortic roots. One-year echocardiographic results from a prospective randomized study.

Background And Aim Of The Study: Aortic valve replacement in patients with a small aortic root may be associated to high residual gradients. In such patients, both stentless valves and aortic annulus enlargement can reduce these residual gradients. Several studies have reported that Trifecta valves yield very good hemodynamic results.

A Comprehensive Fluid Dynamic and Geometric Study for an "In-Vitro" Comparison of Four Surgically Implanted Pericardial Stented Valves.

Background And Aim Of The Study: Many variables may affect the fluid dynamic of an implanted bioprosthesis. In-vitro studies have provided accurate data such that, when different prostheses are implanted in the same true aortic root, it should be possible to make a fair comparison. The study aim was to evaluate the fluid dynamic and geometric characteristics of the four most widely used stented pericardial bioprostheses.

Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.

Background: Facioscapulohumeral muscular dystrophy (FSHD) is associated with an epigenetic defect on 4qter. Two clinically indistinguishable forms of FSHD are known, FSHD1 and FSHD2. FSHD1 is caused by contraction of the highly polymorphic D4Z4 macrosatellite repeat array on chromosome 4q35.

New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis.

Amyotrophic Lateral Sclerosis (ALS) is characterized by the degeneration of upper and lower motor neurons. Clinical heterogeneity is a well-recognized feature of the disease as age of onset, site of onset and the duration of the disease can vary greatly among patients. A number of genes have been identified and associated to familial and sporadic forms of ALS but the majority of cases remains still unexplained.

POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.

The Popeye domain-containing 1 (POPDC1) gene encodes a plasma membrane-localized cAMP-binding protein that is abundantly expressed in striated muscle. In animal models, POPDC1 is an essential regulator of structure and function of cardiac and skeletal muscle; however, POPDC1 mutations have not been associated with human cardiac and muscular diseases. Here, we have described a homozygous missense variant (c.

St. Jude Medical Trifecta aortic valve: results from a prospective regional multicentre registry.

Background: The Trifecta aortic bioprosthesis (St. Jude Medical, Inc., St.

Does the interpersonal model apply across eating disorder diagnostic groups? A structural equation modeling approach.

Background: Interpersonal model has been validated with binge-eating disorder (BED), but it is not yet known if the model applies across a range of eating disorders (ED).

Purpose: The goal of this study was to investigate the validity of the interpersonal model in anorexia nervosa (restricting type; ANR and binge-eating/purge type; ANBP), bulimia nervosa (BN), BED, and eating disorder not otherwise specified (EDNOS).

Procedure: Data from a cross-sectional sample of 1459 treatment-seeking women diagnosed with ANR, ANBP, BN, BED and EDNOS were examined for indirect effects of interpersonal problems on ED psychopathology mediated through negative affect.

Changes in Relationship-Specific Attachment in Emotionally Focused Couple Therapy.

Emotionally focused couple therapy (EFT; Johnson, The practice of emotionally focused couple therapy (1st/2nd edition). Brunner-Routledge, New York, 2004) is an effective treatment of relationship distress (Johnson et al., Clinical Psychology: Science and Practice, 1999; 6, 67).

Group Psychotherapy in Canada.

Canada is a relatively young country, spanning a vast geographical area; yet, it has matured quickly, becoming a diverse, prosperous, and proud nation. The development of group psychotherapy in this country has followed a similar path: its roots can be traced back to fairly recent times, but it has given rise to a rich fabric of practice, teaching, and research traditions. This article provides a brief synopsis of how group therapy is provided, taught, and studied in Canada.

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.

Tubular aggregate myopathy is a genetically heterogeneous disease characterized by tubular aggregates as the hallmark on muscle biopsy. Mutations in STIM1 have recently been identified as one genetic cause in a number of tubular aggregate myopathy cases. To characterize the pattern of muscle involvement in this disease, upper and lower girdles and lower limbs were imaged in five patients with mutations in STIM1, and the scans were compared with two patients with tubular aggregate myopathy not caused by mutations in STIM1.

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease.

AIFM1 is a gene located on the X chromosome, coding for AIF (Apoptosis-Inducing Factor), a mitochondrial flavoprotein involved in caspase-independent cell death. AIFM1 mutations have been associated with different clinical phenotypes: a severe infantile encephalopathy with combined oxidative phosphorylation deficiency and the Cowchock syndrome, an X-linked Charcot-Marie-Tooth disease (CMTX4) with axonal sensorimotor neuropathy, deafness and cognitive impairment. In two male cousins with early-onset mitochondrial encephalopathy and cytochrome c oxidase (COX) deficiency, we identified a novel AIFM1 mutation.

Changes in Defense Mechanism Functioning During Group Therapy for Binge-Eating Disorder.

Objective: This study examined change in defensive mechanism functioning during group psychodynamic interpersonal psychotherapy (GPIP) for women with binge-eating disorder (BED).

Procedure: Women with BED (N = 85) received 16 weeks of GPIP. Five group therapy sessions (sessions 1, 3, 8, 12, and 16) from each of the 12 groups were video recorded and transcribed.

A Cross-Sectional Study of the Psychological Needs of Adults Living with Cystic Fibrosis.

Background: Depression and anxiety are prevalent in people with cystic fibrosis (CF), yet psychological services are rarely accessible in CF clinics. This cross-sectional single center study reports on a psychological needs assessment of people with CF.

Methods: We asked adults attending a CF clinic, without integrated psychological services, to complete a psychological needs assessment survey that included items on: a) past access to psychological services (via a CF referral service), b) concerns relevant to discuss with a psychologist, and c) their likelihood of accessing psychological services if available at the CF clinic, and standardized measures of depression (CES-D) and anxiety (GAD-7).

Psychodynamic/interpersonal group psychotherapy for perfectionism: Evaluating the effectiveness of a short-term treatment.

This study sought to determine whether clinically significant improvement could be obtained using a psychodynamic/interpersonal group treatment based on a comprehensive conceptualization of perfectionism. A sample of 71 community-recruited perfectionistic individuals participated in the University of British Columbia Perfectionism Treatment Study. Eighteen of these participants were initially nonrandomly assigned to a waitlist control condition.

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

Centronuclear myopathies (CNMs) are a group of clinically and genetically heterogeneous muscle disorders. To date, mutation in 7 different genes has been reported to cause CNMs but 30 % of cases still remain genetically undefined. Genetic investigations are often expensive and time consuming.

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

We studied 786 undiagnosed patients with LGMD or nonspecific myopathic features to investigate the role of ANO5 mutations in limb-girdle muscular dystrophies (LGMDs) and in nonspecific myopathies using the next generation sequencing (NGS) approach. In 160 LGMD patients, we first sequenced hotspot exons 5 and 20 and then sequenced the remaining part of the coding region. Another 626 patients, recruited using broader inclusion criteria, were directly analyzed by targeted NGS.

Magnetic resonance imaging pattern recognition in sporadic inclusion-body myositis.

Introduction: In sporadic inclusion-body myositis (IBM), additional tools are needed to confirm the diagnosis, particularly in clinically atypical or pathologically unproven patients. The aims of this study were to define the pattern of muscle MRI in IBM and to assess its accuracy in differentiating IBM from other myopathies that overlap with it clinically or pathologically.

Methods: Blind assessment was done on the scans of 17 definite IBM, 2 possible IBM, and 118 patients with other myopathies.

Early hemodynamic evaluation of Trifecta and Freestyle bioprostheses in patients with a small aortic root: preliminary results from a prospective randomized study.

Background And Aim Of The Study: Aortic valve replacement (AVR) in patients with a small aortic root is often associated with some degree of obstruction and residual gradients. Stentless valves display better hemodynamic performance than stented valves, and might be ideal in patients with a small aortic annulus. A new stented bioprosthesis, the Trifecta valve, has recently become available and has yielded interesting early results.

Hemodynamic comparison between Trifecta and freestyle aortic valve during exercise in patients with small aortic root.

Background: Patients with a small aortic annulus, that is ≤ 23 mm, constitute a challenge for the surgeon, because they are at high risk of patient-prosthesis mismatch. Stentless valves provide better hemodynamic performance at rest and during exercise than stented valves, and are advocated in this group of patients. A new-generation stented valve, the Trifecta (St.

Early and medium term results of the sleeve valve-sparing procedure for aortic root ectasia.

Background: The aim of this retrospective study was to evaluate our experience of using a simplified aortic valve sleeve procedure to treat aortic root ectasia and aneurysms with or without aortic regurgitation. In experienced hands, 2 aortic valve-sparing procedures, ie, Yacoub and David, have yielded excellent long-term results in the treatment of aortic root aneurysms, with or without aortic regurgitation. However, these techniques are demanding and not widely used.