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https://www.readbyqxmd.com/read/29778029/late-onset-childhood-neuronal-ceroid-lipofuscinosis-early-clinical-and-electroencephalographic-markers
#1
Lucas Beltrán, Gabriela Reyes Valenzuela, Mariana Loos, Rodrigo Vargas, Rafael Lizama, Pablo Spinsanti, Roberto Caraballo
PURPOSE: The objective of the study was to describe the initial clinical and electroencephalographic findings in children with late-infantile neuronal ceroid lipofuscinosis (LINCL). METHOD: The clinical charts of 35 patients seen between 1990 and 2016 were reviewed. The patients were divided into two groups: Group 1 (G1) consisting of 12 patients with NCL type 2 (CLN2) disease confirmed by enzymatic activity in dried blood spots on filter paper and/or genetic studies, and Group 2 (G2) consisting of 23 patients with a diagnosis of LINCL based on pathology studies by muscle biopsy...
May 15, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29777611/extragastrointestinal-stromal-tumor-egist-a-16-year-experience-of-13-cases-diagnosed-at-a-single-center
#2
Engin Hatipoğlu
BACKGROUND Gastrointestinal stromal tumor (GISTs) rarely occurs outside the GI tract as extragastrointestinal stromal tumor (EGIST). The aim of this study was to review the clinical presentation, diagnosis, and outcome of EGIST at a single center. MATERIAL AND METHODS The study was a retrospective study performed at Istanbul University Hospital in a 16-year period and included patients with a histopathological diagnosis of EGIST confirmed to arise outside the GI tract. The patients' available medical records included patient demographics, imaging and surgical data, and diagnostic histopathology reports...
May 19, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/29777277/impact-of-muscle-atrophy-on-bone-metabolism-and-bone-strength-implications-for-muscle-bone-crosstalk-with-aging-and-disuse
#3
REVIEW
T Bettis, B-J Kim, M W Hamrick
Bone fractures in older adults are often preceded by a loss of muscle mass and strength. Likewise, bone loss with prolonged bed rest, spinal cord injury, or with exposure to microgravity is also preceded by a rapid loss of muscle mass. Recent studies using animal models in the setting of hindlimb unloading or botulinum toxin (Botox) injection also reveal that muscle loss can induce bone loss. Moreover, muscle-derived factors such as irisin and leptin can inhibit bone loss with unloading, and knockout of catabolic factors in muscle such as the ubiquitin ligase Murf1 or the myokine myostatin can reduce osteoclastogenesis...
May 18, 2018: Osteoporosis International
https://www.readbyqxmd.com/read/29777250/prevalence-of-temporomandibular-disorders-in-patients-with-hashimoto-thyroiditis
#4
Alina Grozdinska, Elisabeth Hofmann, Matthias Schmid, Ursula Hirschfelder
OBJECTIVES: Autoimmune thyroid disease (AITD), also known as Hashimoto thyroiditis (HT), is a degenerative inflammatory disease with high prevalence among women and has been associated with fibromyalgia and widespread chronic pain. The goal was to determine the frequency of temporomandibular disorders (TMD) in patients with HT. METHODS: In all, 119 women (age 19-60 years) were divided into a study (52 women diagnosed with HT) and a control (67 healthy individuals, of which 15 were excluded) group...
May 17, 2018: Journal of Orofacial Orthopedics, Fortschritte der Kieferorthopädie
https://www.readbyqxmd.com/read/29777228/effects-of-clomiphene-citrate-on-male-obesity-associated-hypogonadism-a-randomized-double-blind-placebo-controlled-study
#5
Andressa Heimbecher Soares, Nidia Celeste Horie, Lucas Augusto Piccinin Chiang, Bruno Caramelli, Mariana Gomes Matheus, Alexandre Holthausen Campos, Luciana Cavalheiro Marti, Fernanda Agostini Rocha, Marcio C Mancini, Elaine Maria Frade Costa, Cintia Cercato
BACKGROUND: Obesity causes secondary hypogonadism (HG) in men. Standard testosterone (T) replacement therapy improves metabolic parameters but leads to infertility. OBJECTIVE: To evaluate clomiphene citrate (CC) treatment of adult men with male obesity-associated secondary hypogonadism (MOSH). DESIGN: Single-center, randomized, double-blind, placebo-controlled trial. PARTICIPANTS: Seventy-eight men aged 36.5 ± 7...
May 17, 2018: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29776859/increased-short-interval-intracortical-inhibition-in-un-medicated-patients-with-schizophrenia
#6
Martin Schecklmann, Carmen Weidler, Peter Eichhammer, Göran Hajak, Berthold Langguth
BACKGROUND: Schizophrenia is associated with changes in inhibitory and facilitatory brain networks which can be assessed by motor cortex excitability. OBJECTIVE: Here, we investigate differences between large cross-sectional samples of un-medicated and medicated patients with schizophrenia and healthy controls in single- and double-pulse transcranial magnetic stimulation parameters. METHODS: We measured right abductor digiti minimi muscle activity in 71 un-medicated, 43 medicated patients and 131 healthy controls...
May 4, 2018: Brain Stimulation
https://www.readbyqxmd.com/read/29776776/reliability-of-the-lateral-abdominal-muscle-thickness-measurements-in-idiopathic-scoliosis-patients
#7
Pawel Linek, Anna Klepek, Tomasz Wolny, Grzegorz Mikołajowski
BACKGROUND: To date, the reliability of ultrasound imaging (US) measures of the abdominal muscle thickness in idiopathic scoliosis (IS) patients during early stages of adolescence has not been confirmed. OBJECTIVE: To assess the intra-rater reliability of US measures of the thickness of the external oblique (EO), internal oblique (IO), and transversus abdominis (TrA) on convex and concave body sides in adolescents with IS. DESIGN: One-way repeated-measures analysis of variance (ANOVA) and reliability study...
May 3, 2018: Musculoskeletal Science & Practice
https://www.readbyqxmd.com/read/29776718/high-urinary-ferritin-reflects-myoglobin-iron-evacuation-in-dmd-patients
#8
Jérémy Rouillon, Thibaud Lefebvre, Jérôme Denard, Vincent Puy, Raed Daher, Jérôme Ausseil, Aleksandar Zocevic, Paul Fogel, Katell Peoc'h, Brenda Wong, Laurent Servais, Thomas Voit, Herve Puy, Zoubida Karim, Fedor Svinartchouk
Duchenne muscular dystrophy (DMD) is an X-linked disease caused by mutations in the dystrophin gene leading to the absence of the normal dystrophin protein. The efforts of many laboratories brought new treatments of DMD to the reality, but ongoing and forthcoming clinical trials suffer from absence of valuable biomarkers permitting to follow the outcome of the treatment day by day and to adjust the treatment if needed. In the present study the levels of 128 urinary proteins including growth factors, cytokines and chemokines were compared in urine of DMD patients and age related control subjects by antibody array approach...
March 20, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29776601/echo-intensity-versus-muscle-function-correlations-in-older-adults-are-influenced-by-subcutaneous-fat-thickness
#9
Matt S Stock, Morgan Whitson, Adam M Burton, Nicole T Dawson, Eric J Sobolewski, Brennan J Thompson
Recently, an equation that allows investigators to correct echo intensity for subcutaneous fat was developed. We evaluated correlations between uncorrected and corrected echo intensity versus measures of lower-extremity function. Twenty-three older adults (11 men, 12 women; mean age = 72 y) participated. B-Mode ultrasonography was used to quantify rectus femoris echo intensity and subcutaneous fat thickness. Knee extensor isometric peak torque and rate of torque development at 200 ms (RTD200) were determined (joint angle = 90°)...
May 15, 2018: Ultrasound in Medicine & Biology
https://www.readbyqxmd.com/read/29776378/differential-induction-of-mutant-sod1-misfolding-and-aggregation-by-tau-and-%C3%AE-synuclein-pathology
#10
Michael C Pace, Guilian Xu, Susan Fromholt, John Howard, Benoit I Giasson, Jada Lewis, David R Borchelt
BACKGROUND: Prior studies in C. elegans demonstrated that the expression of aggregation-prone polyglutamine proteins in muscle wall cells compromised the folding of co-expressed temperature-sensitive proteins, prompting interest in whether the accumulation of a misfolded protein in pathologic features of human neurodegenerative disease burdens cellular proteostatic machinery in a manner that impairs the folding of other cellular proteins. METHODS: Mice expressing high levels of mutant forms of tau and α-synuclein (αSyn), which develop inclusion pathologies of the mutant protein in brain and spinal cord, were crossed to mice expressing low levels of mutant superoxide dismutase 1 fused to yellow fluorescent protein (G85R-SOD1:YFP) for aging and neuropathological evaluation...
May 18, 2018: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/29776338/assessment-of-lower-extremity-muscle-mass-muscle-strength-and-exercise-therapy-in-elderly-patients-with-diabetes-mellitus
#11
Takuo Nomura, Toshihiro Kawae, Hiroaki Kataoka, Yukio Ikeda
The increase in the proportion of elderly people in the population is one of the most remarkable sociodemographic phenomena of the twenty-first century. The number of patients with diabetes is also increasing worldwide with this demographic change. Given these facts, consideration of the problems the general elderly population is facing in the management of diabetes is essential. In this review article, we focus on sarcopenia, which is the decrease in lower extremity muscle mass and muscle strength accompanying aging, describe the relationship between sarcopenia and diabetes, and highlight the specific factors through which diabetes contributes to loss of muscle strength...
May 17, 2018: Environmental Health and Preventive Medicine
https://www.readbyqxmd.com/read/29775910/hip-and-patellofemoral-joint-loading-during-gait-are-increased-in-children-with-idiopathic-torsional-deformities
#12
Elyse Passmore, H Kerr Graham, Marcus G Pandy, Morgan Sangeux
BACKGROUND: Torsional deformities of the femur and tibia are associated with gait impairments and joint pain. Several studies have investigated these gait deviations in children with cerebral palsy. However, relatively little is known about gait deviations in children with idiopathic torsion and debate ensues about the management of these patients. RESEARCH QUESTION: What are the effects of idiopathic increased femoral neck anteversion and external tibial torsion on lower-limb kinematics, kinetics and joint loading during gait in children and adolescents...
May 9, 2018: Gait & Posture
https://www.readbyqxmd.com/read/29775909/sensorimotor-control-and-neuromuscular-activity-of-the-shoulder-in-adolescent-competitive-swimmers-with-generalized-joint-hypermobility
#13
Thomas Frydendal, Henrik Eshøj, Behnam Liaghat, Pascal Edouard, Karen Søgaard, Birgit Juul-Kristensen
INTRODUCTION: Shoulder pain is highly prevalent in competitive swimmers, and generalized joint hypermobility (GJH) is considered a risk factor. Sensorimotor control deficiencies and altered neuromuscular activation of the shoulder may represent underlying factors. RESEARCH QUESTION: To investigate whether competitive swimmers with GJH including shoulder hypermobility (GJHS) differ in shoulder sensorimotor control and muscle activity from those without GJH and no shoulder hypermobility (NGJH)...
May 5, 2018: Gait & Posture
https://www.readbyqxmd.com/read/29775800/insertion-and-presence-of-fine-wire-intramuscular-electrodes-to-the-lumbar-paraspinal-muscles-do-not-affect-muscle-performance-and-activation-during-high-exertion-spinal-extension-activities
#14
Szu-Ping Lee, Jo Armour Smith, Matthew Kimber, Kelsey Houk
BACKGROUND: Low back pain (LBP) is commonly associated with paraspinal muscle dysfunctions. A method to study deep lumbar paraspinal (i.e. multifidus) muscle function and neuromuscular activation pattern is intramuscular electromyography (EMG). Previous studies have shown that the procedure does not significantly impact muscle function during activities involving low-level muscle contractions. However, it is currently unknown how muscular function and activation are affected during high-exertion contractions...
May 15, 2018: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/29775750/the-effects-of-capn1-gene-inactivation-on-the-differential-expression-of-genes-in-skeletal-muscle
#15
William T Olive, Brittney N Keel, Amanda K Lindholm-Perry, Justyna Horodyska, Andrew P Foote
Protein turnover is required for muscle growth and regeneration and several proteolytic enzymes, including the calpains, degrade myofibrillar proteins during this process. In a previous experiment, phenotypic differences were observed between μ-calpain knockout (KO) and wild type (WT) mice, including nutrient accretion and fiber type differences. These changes were particularly evident as the animals aged. Thus, we utilized 18 mice (9 KO and 9 WT) to compare transcript abundance to identify differentially expressed genes (DEGs) at 52 wk of age...
May 15, 2018: Gene
https://www.readbyqxmd.com/read/29775666/the-effect-of-syndecan-4-and-glypican-1-knockdown-on-the-proliferation-and-differentiation-of-turkey-satellite-cells-differing-in-age-and-growth-rates
#16
Sandra G Velleman, Daniel L Clark, Jeffrey R Tonniges
Posthatch skeletal muscle growth requires myogenic satellite cells and the dynamic expression of cell membrane-associated proteins. The membrane associated heparan sulfate proteoglycans, syndecan-4 and glypican-1, link the satellite cell niche to the intracellular environment. Sydnecan-4 and glypican-1 are differentially expressed with age in turkey satellite cells and their over-expression impacts both satellite cell proliferation and differentiation, but their effect on satellite cells from lines with different growth potentials is not known...
May 15, 2018: Comparative Biochemistry and Physiology. Part A, Molecular & Integrative Physiology
https://www.readbyqxmd.com/read/29775428/the-involvement-of-human-monogenic-cardiomyopathy-genes-in-experimental-polygenic-cardiac-hypertrophy
#17
Priscilla R Prestes, Francine Z Marques, Guillermo Lopez-Campos, Paul Lewandowski, Lea M D Delbridge, Fadi J Charchar, Stephen B Harrap
Hypertrophic cardiomyopathy thickens heart muscles reducing functionality and increasing risk of cardiac disease and morbidity. Genetic factors are involved, but their contribution is poorly understood. We used the hypertrophic heart rat (HHR), a unique normotensive polygenic model of cardiac hypertrophy and heart failure to investigate the role of genes associated with monogenic human cardiomyopathy. We selected 42 genes involved in monogenic human cardiomyopathies to study: 1) DNA variants, by sequencing the whole-genome of 13-week old HHR and age-matched normal heart rat (NHR), its genetic control strain; 2) mRNA expression, by targeted RNA-sequencing in left ventricles of HHR and NHR at five ages (2-days old, 4-, 13-, 33- and 50-weeks old) compared to human idiopathic dilated data; and 3) microRNA expression, with rat microRNA microarrays in left ventricles of 2-days old HHR and age-matched NHR...
May 18, 2018: Physiological Genomics
https://www.readbyqxmd.com/read/29775407/effect-of-healthy-aging-and-sex-on-middle-cerebral-artery-blood-velocity-dynamics-during-moderate-intensity-exercise
#18
Jaimie L Ward, Jesse C Craig, Yumei Liu, Eric Dennis Vidoni, Rebecca Malesky, David C Poole, Sandra A Billinger
Cerebral blood flow (CBF) velocity measured in the middle cerebral artery (MCAV ) increases with finite kinetics during moderate intensity exercise and both the amplitude and dynamics of the response provide invaluable insights into the controlling mechanisms. The MCAV response following exercise onset is well fit to an exponential model in young individuals but remains to be characterized in their older counterparts. The responsiveness of vasomotor control degrades with advancing age, especially in skeletal muscle, and we tested the hypothesis that older subjects would evince a slower and reduced MCAV response to exercise...
May 18, 2018: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/29774990/searching-for-a-mitochondrial-root-to-the-decline-in-muscle-function-with-ageing
#19
EDITORIAL
Marta Gonzalez-Freire, Fatemeh Adelnia, Ruin Moaddel, Luigi Ferrucci
Sarcopenia, the age-related loss of muscle mass and strength, is linked to a range of adverse outcomes, such as impaired physical performance, cognitive function, and mortality. Preventing sarcopenia may reduce the burden of functional decline with aging and its impact on physiological and economic well-being in older adults. Mitochondria in muscle cells lose their intrinsic efficiency and capacity to produce energy during aging, and it has been hypothesized that such a decline is the main driver of sarcopenia...
May 18, 2018: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/29774469/higher-serum-levels-of-uric-acid-are-associated-with-a-reduced-insulin-clearance-in-non-diabetic-individuals
#20
Teresa Vanessa Fiorentino, Franz Sesti, Elena Succurro, Elisabetta Pedace, Francesco Andreozzi, Angela Sciacqua, Marta Letizia Hribal, Francesco Perticone, Giorgio Sesti
AIMS: Decreased insulin clearance has been reported to be associated with insulin resistance-related disorders and incident type 2 diabetes. The aim of this study was to evaluate whether higher levels of uric acid (UA), a known risk factor of type 2 diabetes, are associated with a reduced insulin clearance. METHODS: 440 non-diabetic individuals were stratified in tertiles according to serum UA levels. Insulin clearance and skeletal muscle insulin sensitivity were assessed by euglycemic hyperinsulinemic clamp...
May 17, 2018: Acta Diabetologica
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