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https://www.readbyqxmd.com/read/28527222/functional-characterization-of-c-terminal-ryanodine-receptor-1-variants-associated-with-central-core-disease-or-malignant-hyperthermia
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28476362/editorial-commentary-core-muscle-injuries-or-athletic-pubalgia-finally-the-real-sausage-not-just-the-same-ole-baloney
#13
EDITORIAL
William C Meyers
In their paper "Prevalence of Surgical Repair for Athletic Pubalgia and Impact on Performance in Football Athletes Participating in the National Football League Combine," Knapik et al. cut through the baloney in the literature on "sports hernia" and apply new eyes to the impact of the results of core muscle surgery on young elite athletes trying out for the National Football League (NFL). They found that the players who had surgery did just as well as all the others in and following NFL Combines. Even the players with presumptively residual, MRI findings did well...
May 2017: Arthroscopy: the Journal of Arthroscopic & related Surgery
https://www.readbyqxmd.com/read/28473100/coronary-artery-calcification-from-mechanism-to-molecular-imaging
#14
REVIEW
Takehiro Nakahara, Marc R Dweck, Navneet Narula, David Pisapia, Jagat Narula, H William Strauss
Vascular calcification is a hallmark of atherosclerosis. The location, density, and confluence of calcification may change portions of the arterial conduit to a noncompliant structure. Calcifications may also seed the cap of a thin cap fibroatheroma, altering tensile forces on the cap and rendering the lesion prone to rupture. Many local and systemic factors participate in this process, including hyperlipidemia, ongoing inflammation, large necrotic cores, and diabetes. Vascular cells can undergo chondrogenic or osteogenic differentiation, causing mineralization of membranous bone and formation of endochondral bone...
May 2017: JACC. Cardiovascular Imaging
https://www.readbyqxmd.com/read/28469744/core-muscle-activation-in-suspension-training-exercises
#15
Giovanni Cugliari, Gennaro Boccia
A quantitative observational laboratory study was conducted to characterize and classify core training exercises executed in a suspension modality on the base of muscle activation. In a prospective single-group repeated measures design, seventeen active male participants performed four suspension exercises typically associated with core training (roll-out, bodysaw, pike and knee-tuck). Surface electromyographic signals were recorded from lower and upper parts of rectus abdominis, external oblique, internal oblique, lower and upper parts of erector spinae muscles using concentric bipolar electrodes...
February 2017: Journal of Human Kinetics
https://www.readbyqxmd.com/read/28459454/conservation-and-innovation-in-the-dux4-family-gene-network
#16
Jennifer L Whiddon, Ashlee T Langford, Chao-Jen Wong, Jun Wen Zhong, Stephen J Tapscott
Facioscapulohumeral dystrophy (FSHD; MIM158900, MIM158901) is caused by misexpression of the DUX4 transcription factor in skeletal muscle. Animal models of FSHD are hindered by incomplete knowledge regarding the conservation of the DUX4 transcriptional program in other species. Despite the divergence of their binding motifs, both mouse DUX and human DUX4 in mouse and human muscle cells, respectively, activate genes associated with cleavage-stage embryos, including MERVL and ERVL-MaLR retrotransposons. We found that human DUX4 expressed in mouse cells maintained modest activation of cleavage-stage genes driven by conventional promoters but did not activate MERVL-promoted genes...
May 1, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28456839/hypothermia-provokes-hemorrhaging-in-various-core-muscle-groups-how-many-of-them-could-we-have-missed
#17
Lenka Zátopková, Petr Hejna, Cristian Palmiere, Grzegorz Teresiński, Martin Janík
The postmortem diagnosis of hypothermia remains problematic even in the era of molecular and digital diagnostic advances. Gross hemorrhages in iliopsoas muscles have been regarded as a helpful diagnostic sign in hypothermia fatalities; nevertheless, they have received marginal attention since their original description. The present study attempts to fill that void by examining occurrence, localization, and diagnostic significance of the bleeding into the core muscles as evidence of death due to hypothermia in a series comprising 51 consecutive hypothermia autopsy cases...
April 29, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28453664/glycogen-synthesis-in-glycogenin-1-deficient-patients-a-role-for-glycogenin-2-in-muscle
#18
Thomas O Krag, Cristina Ruiz Ruiz, John Vissing
Context: Glycogen storage disease type XV (GSD XV) is a rare disease caused by mutations in the GYG1 gene that codes for the core molecule of muscle glycogen, glycogenin 1. Nonetheless, glycogen is present in muscles of glycogenin 1 deficient patients, suggesting an alternative for glycogen build-up. A likely candidate is glycogenin 2, an isoform expressed in liver and heart, but not in healthy skeletal muscle. Objective: We wanted to investigate the formation of glycogen and changes in glycogen metabolism in patients with GSD XV...
April 27, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28445228/the-relationship-of-core-strength-and-activation-and-performance-on-three-functional-movement-screens
#19
Caleb D Johnson, Paul N Whitehead, Erin R Pletcher, Mallory S Faherty, Mita T Lovaleka, Shawn R Eagle, Karen A Keenan
Current measures of core stability utilized by clinicians and researchers suffer from several shortcomings. Three functional movement screens appear, at face-value, to be dependent on the ability to activate and control core musculature. These three screens may present a viable alternative to current measures of core stability. Thirty-nine subjects completed a deep squat, trunk stability push-up, and rotary stability screen. Scores on the three screens were summed to calculate a composite score (COMP). During the screens, muscle activity was collected to determine the length of time that the bilateral erector spinae, rectus abdominus, external oblique, and gluteus medius muscles were active...
April 18, 2017: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/28442507/protein-kinase-stk25-aggravates-the-severity-of-non-alcoholic-fatty-pancreas-disease-in-mice
#20
Esther Nunez Duran, Belen Chanclon, Silva Sütt, Joana Real, Hanns-Ulrich Marschall, Ingrid Wernstedt-Asterholm, Emelie Cansby, Margit Mahlapuu
Characterising the molecular networks that negatively regulate pancreatic β-cell function is essential for understanding the underlying pathogenesis and developing new treatment strategies for type 2 diabetes. We recently identified serine/threonine protein kinase 25 (STK25) as a critical regulator of ectopic fat storage, meta-inflammation, and fibrosis in liver and skeletal muscle. Here, we assessed the role of STK25 in control of progression of non-alcoholic fatty pancreas disease in the context of chronic exposure to dietary lipids in mice...
April 25, 2017: Journal of Endocrinology
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