Enriched environment exposure during development positively impacts the structure and function of the visual cortex in mice.

Optimal conditions of development have been of interest for decades, since genetics alone cannot fully explain how an individual matures. In the present study, we used optical brain imaging to investigate whether a relatively simple enrichment can positively influence the development of the visual cortex of mice. The enrichment paradigm was composed of larger cages housing multiple mice that contained several toys, hiding places, nesting material and a spinning wheel that were moved or replaced at regular intervals.

Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients.

Primary ciliary dyskinesia (PCD) is a clinically and genetically heterogeneous ciliopathy. Dysfunction of motile respiratory and nodal cilia results in sinopulmonary symptoms associated with laterality defects (LD) found in half of the patients. The molecular basis of the disease is insufficiently investigated in patients originating from the Arabian Peninsula.

TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.

Cilia and flagella are evolutionarily conserved organelles whose motility relies on the outer and inner dynein arm complexes (ODAs and IDAs). Defects in ODAs and IDAs result in primary ciliary dyskinesia (PCD), a disease characterized by recurrent airway infections and male infertility. PCD mutations in assembly factors have been shown to cause a combined ODA-IDA defect, affecting both cilia and flagella.

Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele.

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease of motile cilia. Even though PCD is widely studied, North-African patients have been rarely explored. In this study, we aim at confirming the clinical diagnosis and explore the genetic spectrum of PCD in a cohort of Tunisian patients.

Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.

Motile cilia and sperm flagella share an evolutionarily conserved axonemal structure. Their structural and/or functional defects are associated with primary ciliary dyskinesia (PCD), a genetic disease characterized by chronic respiratory-tract infections and in which most males are infertile due to asthenozoospermia. Among the well-characterized axonemal protein complexes, the outer dynein arms (ODAs), through ATPase activity of their heavy chains (HCs), play a major role for cilia and flagella beating.

Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.

Primary ciliary dyskinesia (PCD) is an autosomal recessive disease characterized by chronic respiratory infections of the upper and lower airways, hypofertility, and, in approximately half of the cases, situs inversus. This complex phenotype results from defects in motile cilia and sperm flagella. Among the numerous genes involved in PCD, very few-including CCDC39 and CCDC40-carry mutations that lead to a disorganization of ciliary axonemes with microtubule misalignment.

Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.

Idiopathic interstitial pneumonias (IIPs) comprise a heterogeneous group of rare lung parenchyma disorders with high morbidity and mortality, which can occur at all ages. In adults, the most common form of IIPs, idiopathic pulmonary fibrosis (IPF), has been associated with an increased frequency of lung cancer. The molecular basis of IIPs remains unknown in most cases.

Therapeutic inhibition of mitochondrial reactive oxygen species with mito-TEMPO reduces diabetic cardiomyopathy.

Aims: The mitochondria are important sources of reactive oxygen species (ROS) in the heart. Mitochondrial ROS production has been implicated in the pathogenesis of diabetic cardiomyopathy, suggesting that therapeutic strategies specifically targeting mitochondrial ROS may have benefit in this disease. We investigated the therapeutic effects of mitochondria-targeted antioxidant mito-TEMPO on diabetic cardiomyopathy.

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.

Primary ciliary dyskinesia (PCD) is a rare autosomal-recessive condition resulting from structural and/or functional defects of the axoneme in motile cilia and sperm flagella. The great majority of mutations identified so far involve genes whose defects result in dynein-arm anomalies. By contrast, PCD due to CC/RS defects (those in the central complex [CC] and radial spokes [RSs]), which might be difficult to diagnose, remains mostly unexplained.

Strength and speed training for elders with mobility disability.

The purpose of this study was to pilot test a function-focused exercise intervention consisting of strength and gait-speed training in elders with reduced walking speed, decreased walking endurance, and functional impairment. Twelve participants, 77.2 years old (+/-7.

[Comparison of 2D and 3D techniques in the evaluation of global ventricular function on multidetector-row CT].

Purpose: To compare two methods of post processing cardiac CT data to measure global ventricular function. Materials and methods. Retrospective study where three readers measured the end-diastolic volume (EDV), end-systolic volume (ESV) and ejection fraction (EF) of the right (n=22) and left (n=44) ventricles, using a 2D method (extrapolated volumetric method, EVM) and a 3D method (direct volumetric method, DVM) after cardiac CT with retrospective ECG gating.

Amino acid supplementation decreases plasma and liver triacylglycerols in elderly.

Objective: Hypertriglyceridemia is a risk factor for coronary heart disease. The aim of this study was to determine the effect of amino acid (AA) supplementation on plasma, liver, and muscle lipid concentrations and insulin sensitivity in the elderly.

Methods: Twelve impaired glucose tolerant elderly (mean +/- SD 67.

Evaluation of 3D guided electroanatomic mapping for ablation of atrial fibrillation in reference to CT-Scan image integration.

Background: Anatomical guided atrial fibrillation (AF) catheter ablation relies on the assumption that the left atrium reconstruction anatomy (LARA) using a 3D mapping system precisely matches the patient's CT scan anatomy (real anatomy). This study investigates whether this postulation is accurate using CT scan image integration.

Patients And Methods: Thirty consecutive patients (23 men, mean age = 51.

[MDCT in the lateral decubitus position with Valsalva maneuver in the evaluation of abdominal wall hernias].

MDCT in the lateral decubitus position during Valsalva is sensitive in the detection of abdominal wall hernias and may increase the hernia size and possibly change its contents.

Effect of amino acid supplementation on muscle mass, strength and physical function in elderly.

Background & Aims: With advancing age there is a gradual decline in muscle mass, strength and function. The aim of this study was to determine if regular intake of a nutritional supplement containing essential amino acids (EAA)+arginine could reverse these responses in elderly subjects.

Methods: Twelve glucose intolerant subjects (67.

Comparison of spatiotemporal and energy cost of the use of 3 different walkers and unassisted walking in older adults.

Objective: To compare temporal, spatial, and oxygen costs of gait while elderly subjects walked without an assistive device, with a new assistive device, and with 2 other commercially available assistive devices.

Design: Descriptive, repeated measures.

Setting: University-based research laboratory.

Relationship between immunosuppression and intensive care unit-acquired multidrug-resistant bacteria: a case-control study.

Objective: To determine the relationship between immunosuppression and intensive care unit (ICU)-acquired multidrug-resistant (MDR) bacteria.

Design: Retrospective case-control study based on prospectively collected data.

Setting: A 30-bed medical and surgical ICU.

[A rare tracheal tumour: solitary fibroma].

Introduction: Solitary fibromas are rare anatomo-pathological entities, described initially in the pleural cavity. The mesenchymal origin of these tumours explains their widespread distribution.

Case Report: The authors report a case of solitary fibroma of the trachea in a woman of 30 years of age, presenting as acute respiratory distress and preceded by a 2 year history of episodes of dyspnoea diagnosed as unstable asthma.