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https://www.readbyqxmd.com/read/28547000/whole-exome-sequencing-of-a-patient-with-suspected-mitochondrial-myopathy-reveals-novel-compound-heterozygous-variants-in-ryr1
#1
Patrick R Blackburn, Duygu Selcen, Jennifer M Gass, Jessica L Jackson, Sarah Macklin, Margot A Cousin, Nicole J Boczek, Eric W Klee, Elliot L Dimberg, Kathleen D Kennelly, Paldeep S Atwal
BACKGROUND: Pathogenic variants in ryanodine receptor 1 (RYR1, MIM# 180901) are the cause of congenital myopathy with fiber-type disproportion, malignant hyperthermia susceptibility type 1, central core disease of muscle, multiminicore disease and other congenital myopathies. METHODS: We present a patient with global developmental delay, hypotonia, myopathy, joint hypermobility, and multiple other systemic complaints that were noted early in life. Later she was found to have multiple bone deformities involving her spine, with severe scoliosis that was corrected surgically...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28546966/effects-of-progressive-muscle-relaxation-guided-imagery-and-deep-diaphragmatic-breathing-on-quality-of-life-in-elderly-with-breast-or-prostate-cancer
#2
Mohsen Shahriari, Mojtaba Dehghan, Saeid Pahlavanzadeh, Abdolrahim Hazini
BACKGROUND AND OBJECTIVES: Due to the increasing number of elderly and an increase in the number of cases of cancer by age, cancer is a common problem in the elderly. For elderly patients with cancer, the disease and its treatment can have long-term negative effects on their quality of life (QoL). The purpose of this study was to evaluate the effect of progressive muscle relaxation, body image and deep diaphragmatic breathing on the QoL in the elderly with cancer. MATERIALS AND METHODS: This study was a randomized controlled trial in which 50 elderly patients with breast or prostate cancer were randomized into study and control groups...
2017: Journal of Education and Health Promotion
https://www.readbyqxmd.com/read/28546675/anatomical-correlation-of-core-muscle-activation-in-different-yogic-postures
#3
REVIEW
Mrithunjay Rathore, Soumitra Trivedi, Jessy Abraham, Manisha B Sinha
Faulty postures due to sedentary lifestyle cause weakening of core muscles which contributes to increased incidence of musculoskeletal disorders (MSDs). Although a few research studies have quantified the core muscle activity in various yogic exercises used in rehabilitation programs, evidence correlating it to functional anatomy is scarce. Such information is important for exercise prescription when formulating treatment plans for MSDs. Therefore, the objective of this review article is to examine the literature and analyze the muscle activity produced across various yoga postures to determine which type of yoga posture elicits the highest activation for the core muscle in individuals...
May 2017: International Journal of Yoga
https://www.readbyqxmd.com/read/28545160/-99m-tc-labeled-ngr-chlorambucil-conjugate-99m-tc-hynic-clb-c-ngr-for-targeted-chemotherapy-and-molecular-imaging
#4
Kusum Vats, Drishty Satpati, Rohit Sharma, Chandan Kumar, Haladhar D Sarma, Ashutosh Dash
Targeted delivery of chemotherapeutic drug at the tumor site enhances the efficacy with minimum systemic exposure. Towards this drugs conjugated with peptides having affinity towards a particular molecular target are recognized as affective agents for targeted chemotherapy. Thus in the present study tumor homing NGR peptide ligand was conjugated to DNA alkylating nitrogen mustard, chlorambucil (CLB). The peptide drug conjugate (PDC), CLB-c(NGR) was radiolabeled with (99m) Tc-HYNIC core to trace its pharmacokinetics and biodistribution pattern...
May 25, 2017: Journal of Labelled Compounds & Radiopharmaceuticals
https://www.readbyqxmd.com/read/28544170/hamstring-injury-prevention-in-soccer-before-or-after-training
#5
Ric Lovell, Michael Knox, Matthew Weston, Jason C Siegler, Scott Brennan, Paul W M Marshall
We examined the effects of a 12-week program of Nordic hamstring exercises (NHE), administered before or after football training, upon eccentric hamstring strength, muscle activity, and architectural adaptations. Amateur soccer players were randomized into 3 groups. The control group (CON; n=11) undertook core stability exercises, whereas a periodized NHE program was delivered either before (NHEBEF ; n=10) or after (NHEAFT ; n=14) bi-weekly training sessions. Outcome measures included peak torque and concomitant normalized peak surface electromyography signals (sEMG) of the biceps femoris (BF) and medial hamstring (MH) muscles during knee flexor maximal eccentric contractions, performed at 30°·s(-1) ...
May 24, 2017: Scandinavian Journal of Medicine & Science in Sports
https://www.readbyqxmd.com/read/28544083/evaluating-abdominal-core-muscle-fatigue-assessment-of-the-validity-and-reliability-of-the-prone-bridging-test
#6
Cedric De Blaiser, Roel De Ridder, Tine Willems, Lieven Danneels, Luc Vanden Bossche, Tanneke Palmans, Philip Roosen
The aims of present study were to research the amplitude and median frequency characteristics of selected abdominal, back and hip muscles of healthy subjects during a prone bridging endurance test, based on surface electromyography (sEMG), (1) to determine if the prone bridging test is a valid field test to measure abdominal muscle fatigue, and (2) to evaluate if the current method of administrating the prone bridging test is reliable. Thirty healthy subjects participated in this experiment. The sEMG activity of seven abdominal, back and hip muscles was bilaterally measured...
May 24, 2017: Scandinavian Journal of Medicine & Science in Sports
https://www.readbyqxmd.com/read/28537429/core-outcome-measures-for-clinical-research-in-acute-respiratory-failure-survivors-an-international-modified-delphi-consensus-study
#7
Dale M Needham, Kristin A Sepulveda, Victor D Dinglas, Caroline M Chessare, Lisa Aronson Friedman, Clifton O Bingham Iii, Alison E Turnbull
RATIONALE: Research evaluating acute respiratory failure (ARF) survivors' outcomes after hospital discharge has substantial heterogeneity in measurement instruments used, creating barriers to synthesizing study data. OBJECTIVES: To identify a minimum set of core outcome measures that are essential to include in all clinical research studies evaluating ARF survivors after discharge. METHODS: A three-round modified Delphi consensus process with 77 participants (47% female, 55% outside USA), including clinical researchers from >16 countries across 6 continents, patients/caregivers, clinicians, and research funders...
May 24, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28527846/characterization-of-dental-pulp-myofibroblasts-in-rat-molars-after-pulpotomy
#8
Naoki Edanami, Nagako Yoshiba, Naoto Ohkura, Ryosuke Takeuchi, Aiko Tohma, Yuichiro Noiri, Kunihiko Yoshiba
INTRODUCTION: Myofibroblasts express alpha smooth muscle actin (α-SMA) and play a critical role in wound healing. Myofibroblast differentiation is controlled by the joint actions of transforming growth factor beta 1 (TGF-β1) and the extradomain A fibronectin splice variant (EDA-FN). Currently, the contribution of myofibroblasts to dental pulp healing is unknown. Therefore, we analyzed expressional characteristics of α-SMA-positive cells and investigated TGF-β1, EDA-FN, and α-SMA expression levels after pulpotomy to better understand dental pulp healing...
May 17, 2017: Journal of Endodontics
https://www.readbyqxmd.com/read/28527222/functional-characterization-of-c-terminal-ryanodine-receptor-1-variants-associated-with-central-core-disease-or-malignant-hyperthermia
#9
Remai Parker, Anja H Schiemann, Elaine Langton, Terasa Bulger, Neil Pollock, Andrew Bjorksten, Robyn Gillies, David Hutchinson, Richard Roxburgh, Kathryn M Stowell
BACKGROUND: Central core disease and malignant hyperthermia are human disorders of skeletal muscle resulting from aberrant Ca2+ handling. Most malignant hyperthermia and central core disease cases are associated with amino acid changes in the type 1 ryanodine receptor (RyR1), the skeletal muscle Ca2+-release channel. Malignant hyperthermia exhibits a gain-of-function phenotype, and central core disease results from loss of channel function. For a variant to be classified as pathogenic, functional studies must demonstrate a correlation with the pathophysiology of malignant hyperthermia or central core disease...
May 15, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28522397/cellulose-acetate-poly-lactic-acid-coaxial-wet-electrospun-scaffold-containing-citalopram-loaded-gelatin-nanocarriers-for-neural-tissue-engineering-applications
#10
Mahdi Naseri-Nosar, Majid Salehi, Shahriar Hojjati-Emami
The current study aimed to develop a biodegradable three-dimensional drug-loaded scaffold with the core-shell structured fibrils using coaxial wet-electrospinning for neural tissue engineering application. Poly lactic acid was wet-electrospun as the core, whereas cellulose acetate was fabricated into the fibril's shell. The scaffold then was coated with citalopram-loaded gelatin nanocarriers (CGNs) produced by nanoprecipitation. Scanning electron microscope observation revealed that the fibrils formed a nonwoven structure with the average diameter of ∼950nm...
May 15, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28521807/case-report-a-novel-frameshift-mutation-in-the-mitochondrial-cytochrome-c-oxidase-ii-gene-causing-mitochondrial-disorder
#11
Laura Kytövuori, Mikko Kärppä, Hannu Tuominen, Johanna Uusimaa, Markku Saari, Reetta Hinttala, Kari Majamaa
BACKGROUND: Mitochondrial cytochrome c oxidase 2, MT-CO2, encodes one of the three subunits, which form the catalytic core of cytochrome c oxidase (COX), complex IV. Mutations in MT-CO2 are rare and the associated phenotypes are variable including nonsyndromic and syndromic forms of mitochondrial diseases. CASE PRESENTATION: We describe a 30-year-old man with cognitive decline, epilepsy, psychosis, exercise intolerance, sensorineural hearing impairment, retinitis pigmentosa, cataract and lactic acidosis...
May 18, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28511934/repeated-manganese-administration-produced-abnormal-expression-of-circadian-clock-genes-in-the-hypothalamus-and-liver-of-rats
#12
Huan Li, Ximin Fan, Ying Luo, Sheng Song, Jie Liu, Qiyuan Fan
Manganese (Mn) neurotoxicity displays non-motor dysfunction and motor impairment like Parkinson's disease (PD), and is called as Manganism. Circadian disruption is a non-motor symptom found in PD and Manganism. Clock genes are essential to drive and maintain circadian rhythm, but little is known about Mn exposure on circadian clock genes expression. Both the brain and liver are targets of Mn, we hypothesize that repeated Mn administration could affect clock gene expression in the hypothalamus and livers. Male Sprague-Dawley rats were intraperitoneally injected Mn(2+) 1mg and 5mg/kg as MnCl2·4H2O, every other day for 30 days...
May 13, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/28506097/a-computational-model-of-the-ca-2-transients-and-influence-of-buffering-in-guinea-pig-urinary-bladder-smooth-muscle-cells
#13
Vijay Dave, Rohit Manchanda
Many cellular events including electrical activity and muscle contraction are regulated and coordinated by intracellular [Formula: see text] concentration ([[Formula: see text]][Formula: see text]. In detrusor smooth muscle (DSM) cells, [[Formula: see text]]i is normally maintained at very low levels and rises transiently during signalling processes as a result of (i) influx from the extracellular space (mainly via L-type and T-type [Formula: see text] channels) and (ii) [Formula: see text] release from sarcoplasmic reticulum (SR) into the cytoplasm...
April 20, 2017: Journal of Bioinformatics and Computational Biology
https://www.readbyqxmd.com/read/28505003/the-adequacy-of-core-biopsy-in-the-assessment-of-smooth-muscle-neoplasms-of-soft-tissues-implications-for-treatment-and-prognosis
#14
Nina Schneider, Dirk C Strauss, Myles J Smith, Aisha B Miah, Shane Zaidi, Charlotte Benson, Winan J van Houdt, Robin L Jones, Andrew J Hayes, Cyril Fisher, Khin Thway
The grading of soft tissue sarcomas is one of the most important prognostic factors and determines patient management. Although grading of most adult-type soft tissue sarcomas on biopsies correlates highly with the final grading on the excision specimen, it appears less reliable for tumors of smooth muscle. We assessed the pathologic findings for smooth muscle neoplasms diagnosed by core biopsy at our tertiary sarcoma center, and compared them with those in the subsequent excision specimens. A total of 100 patients with leiomyosarcoma first diagnosed on core biopsy and with a subsequent excision were identified and the accuracy of the biopsy grade determined by comparison with the excision grade...
May 12, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28503541/effects-of-12-week-core-stabilization-exercise-on-the-cobb-angle-and-lumbar-muscle-strength-of-adolescents-with-idiopathic-scoliosis
#15
Kwang-Jun Ko, Seol-Jung Kang
To identify the effects of core stabilization exercise on the Cobb angle and lumbar muscle strength of adolescent patients with idiopathic scoliosis. Subjects in the present study consisted of primary school students who were confirmed to have scoliosis on radiologic examination performed during their visit to the National Fitness Center in Seoul, Korea. Depending on whether they participated in a 12-week core stabilization exercise program, subjects were divided into the exercise (n=14, age 12.71±0.72 years) or control (n=15, age 12...
April 2017: Journal of Exercise Rehabilitation
https://www.readbyqxmd.com/read/28498227/mechanisms-and-treatments-for-shoulder-injuries-in-overhead-throwing-athletes
#16
Jason L Zaremski, Joseph G Wasser, Heather K Vincent
Shoulder injuries in overhead throwing athletes are very common. Throwing volume and mechanical forces that are placed on the glenohumeral joint and associated soft tissue structures are contributors. Poor biomechanics and weak links in the kinetic chain place this athletic population at increased risk for shoulder injuries. Common biomechanical deficiencies in overhead throwing athletes typically involve poor sequential timing of muscle activity and insufficient coordination also presented in shoulder elevation and other functional tasks...
May 2017: Current Sports Medicine Reports
https://www.readbyqxmd.com/read/28498224/core-training-in-low-back-disorders-role-of-the-pilates-method
#17
Andrew A Joyce, Dana H Kotler
The Pilates method is a system of exercises developed by Joseph Pilates, which emphasizes recruitment and strengthening of the core muscles, flexibility, and breathing, to promote stability and control of movement. Its focus bears similarity to current evidence-based exercise programs for low back disorders. Spinal stability is a function of three interdependent systems, osseoligamentous, muscular, and neural control; exercise addresses both the muscular and neural function. The "core" typically refers to the muscular control required to maintain functional stability...
May 2017: Current Sports Medicine Reports
https://www.readbyqxmd.com/read/28493701/substituted-2-acylamino-cycloalkylthiophene-3-carboxylic-acid-arylamides-as-inhibitors-of-the-calcium-activated-chloride-channel-transmembrane-protein-16a-tmem16a
#18
Eric C Truong, Puay-Wah Phuan, Amanda L Reggi, Loretta Ferrera, Luis J V Galietta, Sarah E Levy, Alannah C Moises, Onur Cil, Elena Diez-Cecilia, Sujin Lee, Alan S Verkman, Marc O Anderson
Transmembrane protein 16A (TMEM16A), also called anoctamin 1 (ANO1), is a calcium-activated chloride channel expressed widely mammalian cells, including epithelia, vascular smooth muscle tissue, electrically excitable cells and some tumors. TMEM16A inhibitors have been proposed for treatment of disorders of epithelial fluid and mucus secretion, hypertension, asthma, and possibly cancer. Herein we report by screening the discovery of 2-acylamino-cycloalkylthiophene-3-carboxylic acid arylamides (AACTs) as inhibitors of TMEM16A, and analysis of 48 synthesized analogs (10ab-10bw) of the original AACT compound (10aa)...
May 11, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28484601/wsv023-interacted-with-litopenaeus-vannamei-%C3%AE-tubulin-complex-associated-proteins-2-and-decreased-the-formation-of-microtubules
#19
Yihong Chen, Haitao Bi, Xiaoyun Li, Zezhi Zhang, Haitao Yue, Shaoping Weng, Jianguo He
A previous study found the key transcription factor of Litopenaeus vannamei PERK-eIF2α pathway cyclic AMP-dependent transcription factor 4 (LvATF4) was involved in the transcriptional regulation of white spot syndrome virus (WSSV) gene wsv023. Knocked-down expression of LvATF4 reduced the viral copy number and the cumulative mortality of WSSV-infected shrimp. These results suggested that wsv023 may be critical to WSSV infection but the precise function of wsv023 was still unknown. By using co-immunoprecipitation and pull-down assays, we show that wsv023 interacts with L...
April 2017: Royal Society Open Science
https://www.readbyqxmd.com/read/28481705/breast-reconstruction-with-postmastectomy-radiation-choices-and-tradeoffs
#20
Matthew M Poppe, Jayant P Agarwal
The Oncology Grand Rounds series is designed to place original reports published in the Journal into clinical context. A case presentation is followed by a description of diagnostic and management challenges, a review of the relevant literature, and a summary of the authors' suggested management approaches. The goal of this series is to help readers better understand how to apply the results of key studies, including those published in Journal of Clinical Oncology, to patients seen in their own clinical practice...
May 8, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
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