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https://www.readbyqxmd.com/read/29353265/growth-sexual-and-bone-development-in-a-boy-with-bilateral-anorchia-under-testosterone-treatment-guided-by-the-development-of-his-monozygotic-twin
#1
Sara Vandewalle, Eva Van Caenegem, Margarita Craen, Youri Taes, Jean-Marc Kaufman, Guy T'Sjoen
BACKGROUND: Sex steroids are essential for sexual maturation, linear growth and bone development. However, there is no consensus on the optimal timing, dosage and dosage interval of testosterone therapy to induce pubertal development and achieve a normal adult height and bone mass in children with hypogonadism. CASE PRESENTATION: A monozygotic monochorial male twin pair, of which one boy was diagnosed with anorchia at birth due to testicular regression syndrome was followed from the age of 3 until the age of 18 years...
January 20, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29353138/competitive-swimmers-with-hypermobility-have-strength-and-fatigue-deficits-in-shoulder-medial-rotation
#2
Behnam Liaghat, Birgit Juul-Kristensen, Thomas Frydendal, Camilla Marie Larsen, Karen Søgaard, Aki Ilkka Tapio Salo
Generalised Joint Hypermobility including shoulder hypermobility (GJHS) in swimmers is considered an intrinsic risk factor for shoulder injuries. The aim was to investigate the association of GJHS with shoulder strength, fatigue development and muscle activity during swimming-related shoulder rotations. Totally, 38 competitive swimmers (aged 13-17 years) participated, 19 were competitive swimmers with GJHS and 19 were age, sex and club matched swimmers without GJHS. Concentric isokinetic force in medial and lateral rotations were measured at 60°/s (5 repetitions) and 180°/s (10 repetitions)...
January 10, 2018: Journal of Electromyography and Kinesiology
https://www.readbyqxmd.com/read/29352809/a-novel-plec-nonsense-homozygous-mutation-c-7159g%C3%A2-%C3%A2-t-p-glu2387-causes-epidermolysis-bullosa-simplex-with-muscular-dystrophy-and-diffuse-alopecia-a-case-report
#3
Zoe Argyropoulou, Lu Liu, Linda Ozoemena, Claudia C Branco, Raquel Senra, Ângela Reis-Rego, Luisa Mota-Vieira
BACKGROUND: Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disease, characterized mainly by skin blistering at birth or shortly thereafter, progressive muscle weakness, and rarely by alopecia. EBS-MD is caused by mutations in the PLEC gene (OMIM *601282), which encodes plectin, a structural protein expressed in several tissues, including epithelia and muscle. We describe a patient affected with EBS-MD and diffuse alopecia in which we identified a novel pathogenic mutation by PCR amplification of all coding exons and exon-intron boundaries of PLEC gene, followed by bidirectional Sanger sequencing...
January 20, 2018: BMC Dermatology
https://www.readbyqxmd.com/read/29352759/regional-myocardial-function-abnormalities-are-associated-with-macro-and-microcirculation-dysfunction-in-the-metabolic-syndrome-the-resolve-study
#4
Philippe Obert, Guillaume Walther, Frédéric Dutheil, Bruno Lesourd, Robert Chapier, Daniel Courteix, Agnes Vinet
Abnormalities in myocardial and vascular function have been reported in the metabolic syndrome (MetS), but whether these alterations are related remains poorly documented. Our aim was accordingly to investigate interrelationships between macro- and microcirculatory vasoreactivity and left ventricular (LV) myocardial function in MetS patients. Eighty-eight MetS individuals and 44 age- and gender-matched healthy controls were enrolled. LV global longitudinal strain (GLS) was measured using Vector Velocity Imaging...
January 19, 2018: Heart and Vessels
https://www.readbyqxmd.com/read/29352070/review-of-extraocular-muscle-biopsies-and-utility-of-biopsy-in-extraocular-muscle-enlargement
#5
Edwina L Eade, Thomas G Hardy, Penelope A McKelvie, Alan A McNab
AIMS: To review the distribution of pathology in extraocular muscle (EOM) biopsies performed at a tertiary orbital centre, identify clinical and imaging features which are associated with benign or malignant diseases and indicate when biopsy is necessary for EOM enlargement. METHODS: Retrospective case series including 93 patients with EOM enlargement who underwent an EOM biopsy. Clinical, radiological and histopathological information was recorded from the medical records...
January 19, 2018: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29352041/stress-signaling-jnk2-crosstalk-with-camkii-underlies-enhanced-atrial-arrhythmogenesis
#6
Jiajie Yan, Weiwei Zhao, Justin K Thomson, Xianlong Gao, Dominic M DeMarco, Elena Carrillo, Biyi Chen, Xiaomin Wu, Kenneth S Ginsburg, Mamdouh Bakhos, Donald M Bers, Mark E Anderson, Long-Sheng Song, Michael Fill, Xun Ai
Rationale: Atrial fibrillation (AF) is the most common arrhythmia and advanced age is an inevitable and predominant AF risk factor. However, the mechanisms that couple aging and AF propensity remain unclear, making targeted therapeutic interventions unattainable. Objective: To explore the functional role of an important stress-response c-Jun N-terminal kinase (JNK) in sarcoplasmic reticulum (SR) Ca2+ handling and consequently Ca2+-mediated atrial arrhythmias. Methods and Results: We employed a series of cutting-edge electrophysiological and molecular techniques, exploited the power of transgenic mouse models to detail the molecular mechanism, and verified its clinical applicability in parallel studies on donor human hearts...
January 19, 2018: Circulation Research
https://www.readbyqxmd.com/read/29351646/effect-of-a-postpartum-training-program-on-prevalence-of-diastasis-recti-abdominis-in-postpartum-primiparous-women-a-randomized-controlled-trial
#7
Sandra L Gluppe, Gunvor Hilde, Merete K Tennfjord, Marie E Engh, Kari Bø
Background: Diastasis recti abdominis affects a significant number of women during the prenatal and postnatal period. Objective: The objective was to evaluate the effect of a postpartum training program on prevalence of diastasis recti abdominis. Design: The design was a secondary analysis of an assessor-masked randomized controlled trial. Methods: One hundred and seventy-five primiparous women (mean age 29.8±4.1) were randomized to an exercise or control group...
January 17, 2018: Physical Therapy
https://www.readbyqxmd.com/read/29351598/smooth-muscle-cells-of-intracranial-vessels-from-development-to-disease
#8
Juhana Frösen, Anne Joutel
Cerebrovascular diseases that cause ischemic or hemorrhagic stroke with subsequent loss of life or functional capacity due to damage of the brain tissue are among the leading causes of human suffering and economic burden inflicted by diseases in the developed world. Diseases affecting intracranial vessels are significant contributors to ischemic and hemorrhagic strokes. Brain arteriovenous malformations (bAVM), which are a collection of abnormal blood vessels connecting arteries to veins, are the most common cause of intracranial hemorrhage in children and young adults...
January 16, 2018: Cardiovascular Research
https://www.readbyqxmd.com/read/29351494/factors-associated-with-sarcopenia-in-patients-with-colorectal-cancer
#9
Bianca Umbelino de Souza, Nilian Carla Silva Souza, Renata Brum Martucci, Viviane Dias Rodrigues, Nivaldo Barroso de Pinho, Maria Cristina Gonzalez, Carla Maria Avesani
Introduction; Sarcopenia are frequently observed in cancer patients and was associated with poor prognosis. Objectives; to determine the association of nutritional status, body composition, and clinic parameters with sarcopenia in patients with colorectal cancer (CRC). Methods; We conducted a cross-sectional study of 197 patients with CRC. The sarcopenia elements, including lumbar skeletal muscle index (SMI), handgrip strength, and gait speed were measured. The SMI was assessed by computed tomography at third lumbar vertebra...
January 19, 2018: Nutrition and Cancer
https://www.readbyqxmd.com/read/29351481/regulation-of-glucose-metabolism-in-non-diabetic-metabolically-obese-normal-weight-asians
#10
Cherlyn Ding, Zhiling Chan, Yu Chung Chooi, John Choo, Suresh Anand Sadananthan, Amanda Chang, S Sasikala, Navin Michael, S Sendhil Velan, Faidon Magkos
Type 2 diabetes in Asia occurs largely in the absence of obesity. The metabolically-obese normal-weight (MONW) phenotype refers to lean subjects with metabolic dysfunction that is typically observed in people with obesity, and is associated with increased risk for diabetes. Previous studies evaluated MONW subjects who had greater BMI or total body fat than respective control groups, making interpretation of the results difficult. We evaluated insulin sensitivity (hyperinsulinemic-euglycemic clamp), insulin secretion (mixed meal with oral minimal modeling), intra-abdominal, muscle, and liver fat contents (magnetic resonance), and fasting and postprandial glucose and insulin concentrations in 18 MONW subjects and 18 metabolically-healthy controls matched for age (43{plus minus}3 and 40{plus minus}3 y; P=0...
January 2, 2018: American Journal of Physiology. Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29351468/gabaergic-contribution-to-the-muscle-mechanoreflex-mediated-heart-rate-responses-at-the-onset-of-exercise-in-humans
#11
André L Teixeira, Plinio Santos Ramos, Milena Samora, Jeann L Sabino-Carvalho, Djalma Rabelo Ricardo, Eduardo Colombari, Lauro C Vianna
Previous studies indicated that central GABAergic mechanisms are involved in the heart rate (HR) responses at the onset of exercise. Based on previous research that showed similar increases in HR during passive and active cycling, we reasoned that the GABAergic mechanisms involved in the HR responses at the exercise onset is primarily mediated by muscle mechanoreceptors afferents. Therefore, in this study we sought to determine if central GABA mechanisms are involved in the muscle mechanoreflex-mediated HR responses at the onset of exercise in humans...
December 22, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/29351416/acute-and-chronic-resistance-training-downregulates-select-line-1-retrotransposon-activity-markers-in-human-skeletal-muscle
#12
Matthew A Romero, C Brooks Mobley, Petey W Mumford, Paul A Roberson, Cody T Haun, Wesley C Kephart, James C Healy, Darren T Beck, Kaelin C Young, Jeffrey S Martin, Christopher M Lockwood, Michael D Roberts
Herein, we examined if acute or chronic resistance exercise affected markers of skeletal muscle LINE-1 retrotransposon activity. In study 1, 10 resistance-trained college-aged males performed three consecutive daily back squat sessions, and vastus lateralis biopsies were taken prior to (Pre), 2 h following session 1 (Post1), and 3 days following session 3 (Post2). In study 2, 13 untrained college-aged males performed a full-body resistance training program (3 d/wk), and vastus lateralis biopsies were taken prior to (week 0) and ~72 h following training cessation (week 12)...
December 20, 2017: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/29351413/mitochondrial-content-is-preserved-throughout-disease-progression-in-the-mdx-mouse-model-of-duchenne-muscular-dystrophy-regardless-of-taurine-supplementation
#13
Robert G Barker, Victoria L Wyckelsma, Hongyang Xu, Robyn M Murphy
Mitochondrial dysfunction is a pathological feature of Duchenne muscular Dystrophy (DMD), a debilitating and fatal neuromuscular disorder characterised by progressive muscle wasting and weakness. Mitochondria are a source of cellular ATP and involved in Ca2+ regulation and apoptotic signalling. Ameliorating aberrant mitochondrial function has therapeutic potential for reducing DMD disease severity. The dystrophic mdx mouse exhibits peak muscle damage at 21-28d which stabilises after 8 weeks. The amino acid taurine is implicated in mitochondrial health and function, with endogenous concentrations low when measured during the cycle of peak muscle damage in mdx mice...
December 20, 2017: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/29351227/differential-association-of-cx37-and-cx40-genetic-variants-in-atrial-fibrillation-with-and-without-underlying-structural-heart-disease
#14
Sebastian Carballo, Anna Pfenniger, David Carballo, Nicolas Garin, Richard W James, François Mach, Dipen Shah, Brenda R Kwak
Atrial fibrillation (AF) appears in the presence or absence of structural heart disease. The majority of foci causing AF are located near the ostia of pulmonary veins (PVs), where cardiomyocytes and vascular smooth muscle cells interdigitate. Connexins (Cx) form gap junction channels and participate in action potential propagation. Genetic variants in genes encoding Cx40 and Cx37 affect their expression or function and may contribute to PV arrhythmogenicity. DNA was obtained from 196 patients with drug-resistant, symptomatic AF with and without structural heart disease, who were referred for percutaneous catheter ablation...
January 19, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29351161/effects-of-contrast-strength-vs-plyometric-training-on-lower-limb-explosive-performance-ability-to-change-direction-and-neuromuscular-adaptation-in-soccer-players
#15
Mehrez Hammami, Nawel Gaamouri, Roy J Shephard, Mohamed Souhaiel Chelly
The aim was to compare the effects of two differing 8-week in-season strength training programs (contrast strength training [CST] vs. plyometric training [PT]) on selected performance tests (5 and 40m sprints, S 4 X 5 m change of direction test, squat (SJ) and countermovement (CMJ) jumps , leg peak power on a cycle ergometer force-velocity test, 1-repetition maximal (1-RM) half squat, and electromyographic [EMG] activity of the vastus lateralis, vastus medialis and rectus femoris muscles during vertical jump tests)...
January 17, 2018: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/29351126/incidence-and-risk-factors-for-falls-in-women-with-end-stage-hip-osteoarthritis
#16
Hisashi Ikutomo, Koutatsu Nagai, Keiichi Tagomori, Namika Miura, Norikazu Nakagawa, Kensaku Masuhara
BACKGROUND AND PURPOSE: Fall-induced injuries and resulting deaths are a serious health problem among older adults. The most common risk factors for falls in older adults are muscle weakness, gait deficiencies, and balance deficits. Patients with end-stage hip osteoarthritis (OA) also have many hip dysfunctions, and these all have the potential to increase the risk of falls. However, the incidence and risk factors for falls in patients with end-stage hip OA remain unclear. The aim of this study was to determine the incidence of falls in women with end-stage hip OA and to identify risk factors for falls in this patient population...
January 18, 2018: Journal of Geriatric Physical Therapy
https://www.readbyqxmd.com/read/29351004/duchenne-muscular-dystrophy-dmd-an-updated-review-of-common-available-therapies
#17
Arash Salmaninejad, Saeed Farajzadeh Valilou, Hadi Bayat, Nader Ebadi, Abdolreza Daraei, Meysam Yousefi, Abolfazl Nesaei, Majid Mojarrad
Duchenne muscular dystrophy (DMD) is a lethal progressive pediatric muscle disorder and genetically inherited as an X-linked disease that caused by mutations in the dystrophin gene. DMD leads to progressive muscle weakness, degeneration, and wasting; finally, follows with the premature demise in affected individual's due to respiratory and/or cardiac failure typically by age of 30. For decades, scientists tried massively to find an effective therapy method, but there is no absolute cure currently for patients with DMD, nevertheless, recent advanced progressions on the treatment of DMD will be hopeful in the future...
January 19, 2018: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29350649/magnetic-resonance-imaging-in-degenerative-disease-of-the-lumbar-spine-fat-saturation-technique-and-contrast-medium
#18
Paola D'Aprile, Michelangelo Nasuto, Alfredo Tarantino, Giuseppe Guglielmi, J Randy Jinkins
PURPOSE: To examine both anterior and posterior elements of the lumbar spine in patients with low back pain using MRI T2-weighted sequences with Fat Saturation (FS) and contrast enhanced T1-weighted sequences with FS. MATERIALS AND METHODS: Two thousand eight hundred and twenty (2820) patients (1628 male, 1192 female, mean age 54) presenting low back pain underwent MRI standard examination (Sagittal T1w TSE and T2w TSE, axial T1 SE) with the addition of sagittal and axial T2w Fat Sat (FS) sequences...
January 19, 2018: Acta Bio-medica: Atenei Parmensis
https://www.readbyqxmd.com/read/29350554/quadriceps-neuromuscular-function-and-jump-landing-sagittal-plane-knee-biomechanics-after-anterior-cruciate-ligament-reconstruction
#19
Sarah H Ward, Troy Blackburn, Darin A Padua, Laura E Stanley, Matthew S Harkey, Brittney A Luc-Harkey, Brian G Pietrosimone
CONTEXT:   Aberrant biomechanics may affect force attenuation at the knee during dynamic activities, potentially increasing the risk of sustaining a knee injury or hastening the development of osteoarthritis after anterior cruciate ligament reconstruction (ACLR). Impaired quadriceps neuromuscular function has been hypothesized to influence the development of aberrant biomechanics. OBJECTIVE:   To determine the association between quadriceps neuromuscular function (strength, voluntary activation, and spinal-reflex and corticomotor excitability) and sagittal-plane knee biomechanics during jump landings in individuals with ACLR...
January 19, 2018: Journal of Athletic Training
https://www.readbyqxmd.com/read/29350382/risk-factors-for-adverse-outcomes-of-acute-coronary-syndrome-patients-single-center-experience-in-long-term-follow-up-of-treated-patients
#20
Marcin Grabowski, Krzysztof J Filipiak, Grzegorz Opolski, Renata Główczyńska, Monika Gawałko, Paweł Balsam, Andrzej Cacko, Zenon Huczek, Grzegorz Karpiński, Robert Kowalik, Franciszek Majstrak, Janusz Kochman
BACKGROUND: For patients experiencing an acute coronary syndrome (ACS), a crucial time to assess their prognosis and future management is at discharge from hospital. AIM: To identify patients' risk factors of mortality during post-discharge period following an ACS hospitalization. METHODS: We studied 672 consecutive ACS patients hospitalized and discharged alive between 2002 and 2004. The analysis was done in respect of the type of ACS, i...
January 19, 2018: Kardiologia Polska
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