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https://www.readbyqxmd.com/read/27912770/endometriosis-associated-clear-cell-carcinoma-arising-in-caesarean-section-scar-a-case-report-and-review-of-the-literature
#1
Gabriella Ferrandina, Eleonora Palluzzi, Francesco Fanfani, Stefano Gentileschi, Anna Lia Valentini, Maria Vittoria Mattoli, Ilaria Pennacchia, Giovanni Scambia, Gianfranco Zannoni
BACKGROUND: Malignant transformation has been reported in approximately 1% of the endometriosis cases; herein, we report a case of clear cell endometrial carcinoma arising from endometriosis foci located within a caesarean section scar. CASE PRESENTATION: In November 2014, a Caucasian, 44-year-old woman was transferred to our institution because of severe respiratory failure due to massive lung embolism and rapid enlargement of a subcutaneous suprapubic mass. Abdomino-pelvic magnetic resonance showed a 10...
December 3, 2016: World Journal of Surgical Oncology
https://www.readbyqxmd.com/read/27911447/the-enlarged-extraocular-muscle-to-relax-reflect-or-refer
#2
F Shafi, P Mathewson, P Mehta, H S Ahluwalia
PurposeExtraocular muscle enlargement (EOME) is most commonly associated with thyroid eye disease, but there are other causes. We report our outcomes of investigating and managing non-thyroid-related EOME (NTR-EOME).MethodsRetrospective consecutive case series. Sixteen patients identified by clinical features and orbital imaging. Patient demographics, radiological features, and adjuvant tests including biopsy and final diagnosis were recorded.ResultsMean age at presentation 59.3 years (range 24-89 years). Mean follow-up 3...
December 2, 2016: Eye
https://www.readbyqxmd.com/read/27911336/decreased-aerobic-capacity-in%C3%A2-ano5-muscular-dystrophy
#3
Emil Ylikallio, Mari Auranen, Ibrahim Mahjneh, Antti Lamminen, Maria Kousi, Ann-Liz Träskelin, Tiina Muurinen, Mervi Löfberg, Tapani Salmi, Anders Paetau, Anna-Elina Lehesjoki, Päivi Piirilä, Sari Kiuru-Enari
BACKGROUND: Anoctaminopathies are muscle diseases caused by recessive mutations in the ANO5 gene. The effects of anoctaminopathy on oxidative capacity have not previously been studied in a controlled setting. OBJECTIVE: To characterize oxidative capacity in a clinically and genetically well-defined series of patients with anoctaminopathy. METHODS: We sequenced the ANO5 gene in 111 Finnish patients with suspected LGMD2. Patients with positive findings underwent close clinical examination, including electromyography, muscle MRI, and, in selected cases, muscle biopsy...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27908938/a-rare-case-of-extensive-cranial-langerhans-cell-histiocytosis-synchronously-presenting-as-otitis-externa-and-giant-cell-arteritis
#4
Adnan Darr, Zahir Mughal, Thomas Martin
Langerhans cell histiocytosis (LCH) is a rare histiocytic disorder of unpredictable clinical course and varied modes of presentation. The spectrum of presentation is wide, ranging from isolated eosinophilic granulomas to multiple lesions and diffuse systemic involvement. We present the case of a 52-year-old man, who presented with an 8-week history of worsening otalgia and superficial temporal tenderness attributed to otitis externa within the community and subsequently giant cell arteritis. Computed tomography and magnetic resonance imaging were undertaken due to atypical features, which demonstrated bony destruction within the right greater wing of the sphenoid, squamous part of temporal and mastoid bone, with middle cranial fossa communication...
December 1, 2016: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/27908792/freebie-rhabdomyolysis-a-public-health-concern-spin-class-induced-rhabdomyolysis-case-reports-and-review-of-literature
#5
Maureen Brogan, Rudrick Ledesma, Alan Coffino, Praveen N Chander
BACKGROUND: Rhabdomyolysis is a pathologic condition in which intracellular muscle constituents leak into the blood circulation. It is usually caused by muscle trauma. "Spinning" is an indoor form of cycling where participants use a special stationary exercise bicycle with a weighted flywheel and undergo high intensity cycling classes focusing on endurance. There have been several case reports in the literature of exertional rhabdomyolysis following spin class. METHODS: Our nephrology practices have diagnosed a number of cases of symptomatic patients presenting to our emergency departments following their first spin classes, with histories and creatinine phosphokinase levels diagnostic of exertional rhabdomyolysis...
November 28, 2016: American Journal of Medicine
https://www.readbyqxmd.com/read/27906172/inflammatory-macrophages-can-transdifferentiate-into-myofibroblasts-during-renal-fibrosis
#6
Xiao-Ming Meng, Shuang Wang, Xiao-Ru Huang, Chen Yang, Jun Xiao, Yang Zhang, Ka-Fai To, David J Nikolic-Paterson, Hui-Yao Lan
Myofibroblasts play a central role in renal fibrosis although the origin of these cells remains controversial. We recently reported that bone marrow-derived macrophages can give rise to myofibroblasts through macrophage to myofibroblast transition (MMT). However, several important issues remain to be addressed, including whether MMT occurs in human kidney disease and verification of the MMT process through lineage tracing. Biopsies from a cohort of 58 patients with various forms of kidney disease were examined for MMT cells that co-express macrophage (CD68) and myofibroblast (α-smooth muscle actin, α-SMA) markers...
December 1, 2016: Cell Death & Disease
https://www.readbyqxmd.com/read/27906110/failed-upregulation-of-tfam-protein-and-mitochondrial-dna-in-oxidatively-deficient-fibers-of-chronic-obstructive-pulmonary-disease-locomotor-muscle
#7
Yana Konokhova, Sally Spendiff, R Thomas Jagoe, Sudhakar Aare, Sophia Kapchinsky, Norah J MacMillan, Paul Rozakis, Martin Picard, Mylène Aubertin-Leheudre, Charlotte H Pion, Jean Bourbeau, Russell T Hepple, Tanja Taivassalo
BACKGROUND: Low mitochondrial content and oxidative capacity are well-established features of locomotor muscle dysfunction, a prevalent and debilitating systemic occurrence in patients with chronic obstructive pulmonary disease (COPD). Although the exact cause is not firmly established, physical inactivity and oxidative stress are among the proposed underlying mechanisms. Here, we assess the impact of COPD pathophysiology on mitochondrial DNA (mtDNA) integrity, biogenesis, and cellular oxidative capacity in locomotor muscle of COPD patients and healthy controls...
February 18, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27906098/direct-reprogramming-of-urine-derived-cells-with-inducible-myod-for-modeling-human-muscle-disease
#8
Ellis Y Kim, Patrick Page, Lisa M Dellefave-Castillo, Elizabeth M McNally, Eugene J Wyatt
BACKGROUND: Cellular models of muscle disease are taking on increasing importance with the large number of genes and mutations implicated in causing myopathies and the concomitant need to test personalized therapies. Developing cell models relies on having an easily obtained source of cells, and if the cells are not derived from muscle itself, a robust reprogramming process is needed. Fibroblasts are a human cell source that works well for the generation of induced pluripotent stem cells, which can then be differentiated into cardiomyocyte lineages, and with less efficiency, skeletal muscle-like lineages...
September 15, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27905532/validation-of-plasma-micrornas-as-biomarkers-for-myotonic-dystrophy-type-1
#9
A Perfetti, S Greco, R Cardani, B Fossati, G Cuomo, R Valaperta, F Ambrogi, A Cortese, A Botta, A Mignarri, M Santoro, C Gaetano, E Costa, M T Dotti, G Silvestri, R Massa, G Meola, F Martelli
Non-invasive and simple to measure biomarkers are still an unmet need for myotonic dystrophy type 1 (DM1). Indeed, muscle biopsies can be extremely informative, but their invasive nature limits their application. Extracellular microRNAs are emerging humoral biomarkers and preliminary studies identified a group of miRNAs that are deregulated in the plasma or serum of small groups of DM1 patients. Here we adopted very stringent selection and normalization criteria to validate or disprove these miRNAs in 103 DM1 patients and 111 matched controls...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27904835/a-novel-dominant-d109a-cryab-mutation-in-a-family-with-myofibrillar-myopathy-affects-%C3%AE-b-crystallin-structure
#10
Jakub P Fichna, Anna Potulska-Chromik, Przemysław Miszta, Maria Jolanta Redowicz, Anna M Kaminska, Cezary Zekanowski, Sławomir Filipek
Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibrils dissolution and abnormal accumulation of degradation products. So far causative mutations have been identified in nine genes encoding Z-disk proteins, including αB-crystallin (CRYAB), a small heat shock protein (also called HSPB5). Here, we report a case study of a 63-year-old Polish female with a progressive lower limb weakness and muscle biopsy suggesting a myofibrillar myopathy, and extra-muscular multisystemic involvement, including cataract and cardiomiopathy...
June 2017: BBA Clinical
https://www.readbyqxmd.com/read/27903518/habituation-to-low-or-high-protein-intake-does-not-modulate-basal-or-postprandial-muscle-protein-synthesis-rates-a-randomized-trial
#11
Stefan Hm Gorissen, Astrid Mh Horstman, Rinske Franssen, Imre Wk Kouw, Benjamin T Wall, Nicholas A Burd, Lisette Cpgm de Groot, Luc Jc van Loon
BACKGROUND: Muscle mass maintenance is largely regulated by basal muscle protein synthesis rates and the ability to increase muscle protein synthesis after protein ingestion. To our knowledge, no previous studies have evaluated the impact of habituation to either low protein intake (LOW PRO) or high protein intake (HIGH PRO) on the postprandial muscle protein synthetic response. OBJECTIVE: We assessed the impact of LOW PRO compared with HIGH PRO on basal and postprandial muscle protein synthesis rates after the ingestion of 25 g whey protein...
November 30, 2016: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/27899900/fiber-type-specific-satellite-cell-content-in-cyclists-following-heavy-training-with-carbohydrate-and-carbohydrate-protein-supplementation
#12
Alec I McKenzie, Andrew C D'Lugos, Michael J Saunders, Keith D Gworek, Nicholas D Luden
The central purpose of this study was to evaluate the fiber type-specific satellite cell and myonuclear responses of endurance-trained cyclists to a block of intensified training, when supplementing with carbohydrate (CHO) vs. carbohydrate-protein (PRO). In a crossover design, endurance-trained cyclists (n = 8) performed two consecutive training periods, once supplementing with CHO (de facto "control" condition) and the other with PRO. Each training period consisted of 10 days of intensified cycle training (ICT-120% increase in average training duration) followed by 10 days of recovery (RVT-reduced volume training; 33% volume reduction vs...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27899787/mcardle-disease-misdiagnosed-as-meningitis
#13
Renata Siciliani Scalco, Sherryl Chatfield, Muhammad Hyder Junejo, Suzanne Booth, Jatin Pattni, Richard Godfrey, Ros Quinlivan
BACKGROUND McArdle disease is a glycogen storage disorder mainly characterized by exercise intolerance. Prolonged muscle contracture is also a feature of this condition and may lead to rhabdomyolysis (RM), which is a serious event characterized by acute skeletal muscle damage.  CASE REPORT A 44-year-old female patient presented with an acute contracture of the posterior neck muscles, causing severe nuchal rigidity. The contracture was induced during a dental extraction as she held her mouth open for a prolonged period, with her neck in a rigid position...
November 30, 2016: American Journal of Case Reports
https://www.readbyqxmd.com/read/27898642/manipulation-of-muscle-creatine-and-glycogen-changes-dxa-estimates-of-body-composition
#14
Julia L Bone, Megan L Ross, Kristyen A Tomcik, Nikki A Jeacocke, Will G Hopkins, Louise M Burke
: Standardising a dual x-ray absorptiometry (DXA) protocol is thought to provide a reliable measurement of body composition. PURPOSE: We investigated the effects of manipulating muscle glycogen and creatine content independently and additively on DXA estimates of lean mass. METHOD: Eighteen well-trained male cyclists undertook a parallel group application of creatine loading (n=9) (20 g/d for 5 d loading; 3 g/d maintenance) or placebo (n=9) with crossover application of glycogen loading (12 v 6 g/kg BM/d for 48 h) as part of a larger study involving a glycogen-depleting exercise protocol...
November 28, 2016: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/27898284/increased-vldl-tg-fatty-acid-storage-in-skeletal-muscle-in-men-with-type-2-diabetes
#15
Iben R Andersen, Esben Søndergaard, Lars P Sørensen, Birgitte Nellemann, Lars C Gormsen, Michael D Jensen, Søren Nielsen
CONTEXT: Lipoprotein lipase (LPL) activity is considered the rate-limiting step of very-low-density-lipoprotein triglycerides (VLDL-TG) tissue storage, and has been suggested to relate to the development of obesity as well as insulin resistance and type 2 diabetes. OBJECTIVE: The objective of the study was to assess the relationship between the quantitative storage of VLDL-TG fatty acids and LPL activity and other storage factors in muscle and adipose tissue. In addition, we examine whether such relations were influenced by type 2 diabetes...
November 29, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27897408/muscle-fibre-capillarization-is-a-critical-factor-in-muscle-fibre-hypertrophy-during-resistance-exercise-training-in-older-men
#16
Tim Snijders, Joshua P Nederveen, Sophie Joanisse, Marika Leenders, Lex B Verdijk, Luc J C van Loon, Gianni Parise
BACKGROUND: Adequate muscle fibre perfusion is critical for the maintenance of muscle mass; it is essential in the rapid delivery of oxygen, nutrients and growth factors to the muscle, stimulating muscle fibre growth. Muscle fibre capillarization is known to decrease substantially with advancing age. However, whether (relative) low muscle fibre capillarization negatively impacts the muscle hypertrophic response following resistance exercise training in older adults is unknown. METHODS: Twenty-two healthy older men (71 ± 1 years) performed 24 weeks of progressive resistance type exercise training...
August 4, 2016: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/27897402/the-impact-of-ageing-physical-activity-and-pre-frailty-on-skeletal-muscle-phenotype-mitochondrial-content-and-intramyocellular-lipids-in-men
#17
Félix St-Jean-Pelletier, Charlotte H Pion, Jean-Philippe Leduc-Gaudet, Nicolas Sgarioto, Igor Zovilé, Sébastien Barbat-Artigas, Olivier Reynaud, Feras Alkaterji, François C Lemieux, Alexis Grenon, Pierrette Gaudreau, Russell T Hepple, Stéphanie Chevalier, Marc Belanger, José A Morais, Mylène Aubertin-Leheudre, Gilles Gouspillou
BACKGROUND: The exact impact of ageing on skeletal muscle phenotype and mitochondrial and lipid content remains controversial, probably because physical activity, which greatly influences muscle physiology, is rarely accounted for. The present study was therefore designed to investigate the effects of ageing, physical activity, and pre-frailty on skeletal muscle phenotype, and mitochondrial and intramyocellular lipid content in men. METHODS: Recreationally active young adult (20-30 yo; YA); active (ACT) and sedentary (SED) middle-age (50-65 yo; MA-ACT and MA-SED); and older (65 + yo; 65 + ACT and 65 + SED) and pre-frail older (65 + PF) men were recruited...
September 2, 2016: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/27895377/frequency-and-predictors-of-recurrence-of-bladder-tumour-on-first-check-cystoscopy-a-tertiary-care-hospital-experience
#18
Muhammad Farhan, Syed Muhammad Nazim, Jibran Ahmed, Muhammad Hammad Ather
OBJECTIVE: To determine the frequency and predictors of non-muscle invasive bladder tumour recurrence on first-check cystoscopy after transurethral resection of bladder tumour. METHODS: This cross-sectional study was conducted at the Aga Khan University Hospital, Karachi, from April to November 2014, and comprised patients with a suspected newly-diagnosed urothelial cancer. Patients with non-muscle invasive disease with complete resection of all visible lesions along with deep biopsy from the tumour base were included...
October 2016: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/27891585/novel-mutations-in-kars-cause-hypertrophic-cardiomyopathy-and-combined-mitochondrial-respiratory-chain-defect
#19
Daniela Verrigni, Daria Diodato, Michela Di Nottia, Alessandra Torraco, Emanuele Bellacchio, Teresa Rizza, Giulia Tozzi, Margherita Verardo, Fiorella Piemonte, Giorgio Tasca, Adele D'Amico, Enrico Bertini, Rosalba Carrozzo
Mutations in KARS, which encodes for both mitochondrial and cytoplasmic lysyl-tRNA synthethase, have been so far associated with three different phenotypes: the recessive form of Charcot Mary-Tooth polyneuropathy, the autosomal recessive non-syndromic hearing loss and the last recently described condition related to congenital visual impairment and progressive microcephaly. Here we report the case of a 14-years-old-girl with severe cardiomyopathy associated to mild psychomotor delay and mild myopathy; moreover, a diffuse reduction of cytochrome C oxidase (COX, complex IV) and a combined enzymatic defect of complex I (CI) and IV (CIV) was evident in muscle biopsy...
November 28, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27891000/an-unusual-metastasis-of-lung-adenocarcinoma-biceps-brachii-muscle
#20
Muzaffer Sariaydin, Ersin Günay, Sevinc Sarinc Ulasli, Sibel Günay, Betül Demirciler Yavaş, Çiğdem Tokyol, Mükremin Uysal, Mehmet Ünlü
Skeletal muscle metastasis of nonsmall cell lung carcinoma (NSCLC) is a rare occurrence, and the most effective treatment modality is currently unknown. In this case presentation, we report a patient with NSCLC who underwent palliative radiotherapy for biceps muscle metastasis of NSLCS. Our case was a 49-year-old woman who had lung adenocarcinoma with biceps muscle metastasis. She had been followed up for 2 years due to Stage IV lung adenocarcinoma from whom a biopsy was taken from a painful mass in right arm that was found to be compatible with metastasis of lung adenocarcinoma...
November 2016: Lung India: Official Organ of Indian Chest Society
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