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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/29777235/response-of-skeletal-muscle-ucp2-expression-during-metabolic-adaptation-to-caloric-restriction
#2
Sascha Heinitz, Paolo Piaggi, Shanshan Yang, Susan Bonfiglio, Jason Steel, Jonathan Krakoff, Susanne B Votruba
BACKGROUND/OBJECTIVES: Spendthrift vs. thrifty individuals expend more energy and experience greater weight loss during caloric restriction (CR). Adaptive mechanisms in skeletal muscle, adipose tissue, and on hormone level modulate energy expenditure (EE) during weight loss. Metabolic mechanisms underlying the variability in EE during CR are unclear. The present study explored whether during long-term CR (i) gene expression changes in skeletal muscle and adipose tissue relate with the individual EE response and weight loss, and (ii) altered catecholamine and FGF21-concentrations are associated with measures of metabolic adaptation...
May 17, 2018: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29774167/complete-hypokalemic-quadriparesis-as-a-first-presentation-of-sj%C3%A3-gren-syndrome
#3
Jason An, Branko Braam
Rationale: We hope to increase awareness that hypokalemic paralysis may be the first presentation of Sjögren syndrome, for which potassium-sparing diuretics can be an effective adjunct to potassium replenishment. Presenting concerns: A 73-year-old female presented to a peripheral hospital with quadriparesis and a critically low serum potassium of 1.6 mmol/L with U waves on the electrocardiogram (ECG). The initial arterial blood gas showed a pH of 7.19, bicarbonate of 13 mEq/L, and a CO2 of 35 mm Hg...
2018: Canadian Journal of Kidney Health and Disease
https://www.readbyqxmd.com/read/29772844/leucine-supplementation-does-not-attenuate-skeletal-muscle-loss-during-leg-immobilization-in-healthy-young-men
#4
Evelien M P Backx, Astrid M H Horstman, Gabriel N Marzuca-Nassr, Janneau van Kranenburg, Joey S Smeets, Cas J Fuchs, Anniek A W Janssen, Lisette C P G M de Groot, Tim Snijders, Lex B Verdijk, Luc J C van Loon
BACKGROUND: Short successive periods of physical inactivity occur throughout life and contribute considerably to the age-related loss of skeletal muscle mass. The maintenance of muscle mass during brief periods of disuse is required to prevent functional decline and maintain metabolic health. OBJECTIVE: To assess whether daily leucine supplementation during a short period of disuse can attenuate subsequent muscle loss in vivo in humans. METHODS: Thirty healthy (22 ± 1 y) young males were exposed to a 7-day unilateral knee immobilization intervention by means of a full leg cast with (LEU, n = 15) or without (CON, n = 15) daily leucine supplementation (2...
May 17, 2018: Nutrients
https://www.readbyqxmd.com/read/29770465/expression-of-myxovirus-resistance-protein-a-a-possible-marker-of-muscle-disease-activity-and-autoantibody-specificities-in-juvenile-dermatomyositis
#5
Sirisucha Soponkanaporn, Claire T Deakin, Peter W Schutz, Lucy R Marshall, Shireena A Yasin, Cerise M Johnson, Erdal Sag, Sarah L Tansley, Neil J McHugh, Lucy R Wedderburn, Thomas S Jacques
AIMS: To evaluate the relationship between expression of Myxovirus-resistance protein A (MxA) protein on muscle biopsies by immunohistochemistry and disease activity in JDM patients. Also, another aim was to investigate whether the expression of MxA is related with myositis-specific autoantibodies (MSA) status in JDM patients. METHODS: 103 patients (median aged 6.3, IQR 0.5-15.9) enrolled in the Juvenile Dermatomyositis Cohort and Biomarker Study (JDCBS). Muscle biopsies were stained with MxA and scored...
May 16, 2018: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29770361/differential-diagnosis-of-vacuolar-muscle-biopsies-use-of-p62-lc3-and-lamp2-immunohistochemistry
#6
Elisa Vittonatto, Silvia Boschi, Loredana CHIADò-Piat, Valentina Ponzalino, Sara Bortolani, Chiara Brusa, Innocenzo Rainero, Federica Ricci, Liliana Vercelli, Tiziana Mongini
Intrafibral vacuoles are the morphological hallmark in a wide variety of human skeletal muscle disorders with different etiology. In most cases, differential diagnosis is feasible with a routine histochemical work up of muscle biopsy. Ultrastructural analysis is an important confirmatory tool, but it is not widely available. Immunohistochemical stainings for p62, LAMP2 and LC3 are commonly available as tissutal marker for autophagy. We compared the immunohistochemical patterns for autophagic markers p62, LC3 and LAMP2 with routine histochemical markers in 39 biopsies from patients with definite diagnoses of glycogen storage disease type 2 (LOPD or Pompe disease, PD), sporadic inclusion body myositis (sIBM), oculo-pharyngeal muscular dystrophy (OPMD) and necrotizing myopathy (NM)...
December 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29766941/idiopathic-inflammatory-myopathies-in-adults-a-comparative-study-of-bohan-and-peter-and-european-neuromuscular-center-2004-criteria
#7
Sundaram Challa, Saumya Jakati, Megha S Uppin, Meena A Kannan, Rajasekhar Liza, M K Murthy Jagarlapudi
Background: Bohan and Peter criteria are widely used for the diagnosis of idiopathic inflammatory myopathies (IIMs). Recently, European Neuromuscular Center (ENMC) formulated criteria to identify subgroups of IIMs. Aim: To compare the two diagnostic criteria in adult IIMs. Materials and Methods: This was a retrospective review of case records of histologically confirmed IIMs in adults between January 2014 and May 2015. Both the Bohan and Peter, and ENMC 2004 criteria were applied in the same group of patients to subgroup the IIMs...
May 2018: Neurology India
https://www.readbyqxmd.com/read/29764851/inflammatory-myofibroblastic-tumour-an-unusual-presentation-including-small-bowel-obstruction-and-palpable-abdominal-mass
#8
Emily Cerier, Eliza Wright Beal, Mary E Dillhoff
A 41-year-old man with no medical history presented with 2 weeks of nausea, vomiting, a new palpable abdominal mass, constipation and a 14kgweight loss. On admission, CT abdomen and pelvis demonstrated a 6.9×3.7 cm soft-tissue abdominal mass deep to and invading the lower anterior abdominal wall with tethering of the urinary bladder and potential involvement of the urachus. Subsequently, a biopsy demonstrated a low-grade spindle cell neoplasm compatible with inflammatory myofibroblastic tumour with immunostain positive for smooth muscle actin and desmin and negative for CD21, CD117, DOG-1, TKE-1, mdm2, CD34 and ALK...
May 15, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29763601/the-p-s85c-mutation-in-matr3-impairs-stress-granule-formation-in-matrin-3-myopathy
#9
Alexander Mensch, Beate Meinhardt, Nadine Bley, Stefan Hüttelmaier, Ilka Schneider, Gisela Stoltenburg-Didinger, Torsten Kraya, Tobias Müller, Stephan Zierz
Matrin-3-related distal myopathy is characterized mainly by progressive distal weakness of the lower extremities. The mutation p.S85C in matrin-3 (MATR3) has been identified as disease-causing alteration, whereas the specific molecular mechanisms leading to the muscle disease have not been elucidated. In the present study, muscle biopsy samples from six patients and fibroblasts from four patients harboring p.S85C mutation in MATR3 were analyzed. No specific changes in matrin-3 localization or expression were observed...
May 12, 2018: Experimental Neurology
https://www.readbyqxmd.com/read/29761654/low-load-resistance-exercise-during-inactivity-is-associated-with-greater-fibre-area-and-satellite-cell-expression-in-older-skeletal-muscle
#10
Daniel R Moore, Ryan P Kelly, Michaela C Devries, Tyler A Churchward-Venne, Stuart M Phillips, Gianni Parise, Adam P Johnston
BACKGROUND: Age-related sarcopenia is accelerated by physical inactivity. Low-load resistance exercise (LLRE) counters inactivity-induced muscle atrophy in older adults, but changes in muscle fibre morphology are unstudied. We aimed to determine the impact of LLRE during short-term inactivity (step-reduction) on muscle fibre size and capillarity as well as satellite cell (SC) content in older skeletal muscle. METHODS: Fourteen older (~71 years) male adults underwent 14 days of step reduction (<1500 steps/day) while performing six sessions of LLRE (~30% maximal strength) with one leg (SR + EX) while the contralateral leg served as an untrained control (SR)...
May 14, 2018: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/29759639/uniparental-disomy-unveils-a-novel-recessive-mutation-in-pomt2
#11
Brianna N Brun, Tobias Willer, Benjamin W Darbro, Hernan D Gonorazky, Sergey Naumenko, James J Dowling, Kevin P Campbell, Steven A Moore, Katherine D Mathews
Mutations in POMT2 are most commonly associated with Walker-Warburg syndrome and Muscle-Eye-Brain disease, but can also cause limb girdle muscular dystrophy (LGMD2N). We report a case of LGMD due to a novel mutation in POMT2 unmasked by uniparental isodisomy. The patient experienced proximal muscle weakness from three years of age with minimal progression. She developed progressive contractures and underwent unilateral Achilles tenotomy. By age 11, she had borderline low left ventricular ejection fraction and mild restrictive lung disease...
April 10, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29759638/a-new-case-of-limb-girdle-muscular-dystrophy-2g-in-a-greek-patient-founder-effect-and-review-of-the-literature
#12
Roberta Brusa, Francesca Magri, Dimitra Papadimitriou, Alessandra Govoni, Roberto Del Bo, Patrizia Ciscato, Marco Savarese, Claudia Cinnante, Maggie C Walter, Angela Abicht, Stefanie Bulst, Stefania Corti, Maurizio Moggio, Nereo Bresolin, Vincenzo Nigro, Giacomo Pietro Comi
Limb girdle muscular dystrophy (LGMD) type 2G is a rare form of muscle disease, described only in a few patients worldwide, caused by mutations in TCAP gene, encoding the protein telethonin. It is characterised by proximal limb muscle weakness associated with distal involvement of lower limbs, starting in the first or second decade of life. We describe the case of a 37-year-old woman of Greek origin, affected by disto-proximal lower limb weakness. No cardiac or respiratory involvement was detected. Muscle biopsy showed myopathic changes with type I fibre hypotrophy, cytoplasmic vacuoles, lipid overload, multiple central nuclei and fibre splittings; ultrastructural examination showed metabolic abnormalities...
April 13, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29755824/olfactory-neuroblastoma-a-rare-cause-of-external-ophthalmoplegia-proptosis-and-compressive-optic-neuropathy
#13
Ömer Kartı, Mehmet Özgür Zengin, Ozan Çelik, Taşkın Tokat, Tuncay Küsbeci
Olfactory neuroblastoma (ONB), which is a neuroectodermal tumor of the nasal cavity, is a rare and locally aggressive malignancy that may invade the orbit via local destruction. In this study, we report a patient with proptosis, external ophthalmoplegia, and compressive optic neuropathy caused by ONB. A detailed clinical examination including ocular imaging and histopathological studies were performed. The 62-year-old female patient presented to our clinic with complaints of proptosis and visual deterioration in the left eye...
April 2018: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/29755474/exercise-increases-insulin-sensitivity-and-skeletal-muscle-ampk-expression-in-systemic-lupus-erythematosus-a-randomized-controlled-trial
#14
Fabiana B Benatti, Cíntia N H Miyake, Wagner S Dantas, Vanessa O Zambelli, Samuel K Shinjo, Rosa M R Pereira, Maria Elizabeth R Silva, Ana Lúcia Sá-Pinto, Eduardo Borba, Eloisa Bonfá, Bruno Gualano
Systemic lupus erythematosus (SLE) patients may show increased insulin resistance (IR) when compared with their healthy peers. Exercise training has been shown to improve insulin sensitivity in other insulin-resistant populations, but it has never been tested in SLE. Therefore, the aim of the present study was to assess the efficacy of a moderate-intensity exercise training program on insulin sensitivity and potential underlying mechanisms in SLE patients with mild/inactive disease. A 12-week, randomized controlled trial was conducted...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29755275/isolated-superior-oblique-muscle-extranodal-marginal-zone-b-cell-lymphoma-case-report
#15
Fatimah Alhammad, Azza Maktabi, Hind M Alkatan, Sahar M Elkhamary, Enmar Almazyad, Osama Al-Sheikh
We describe a rare case of isolated extraocular muscle ocular adnexal lymphoma of a middle-aged female who presented with redness in the left eye associated with progressive proptosis over one year. Magnetic resonance imaging of the orbit indicated isolated enlargement of the left superior oblique (SO) muscle with an apparent diffusion coefficient (ADC) of (0.77 ± 0.11 × 10-3  mm2 /s). Histopathology with immunohistochemical staining of the incisional biopsy from the SO muscle belly confirmed the diagnosis of extranodal marginal zone B cell lymphoma...
January 2018: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
https://www.readbyqxmd.com/read/29754838/-bcg-infection-following-intravesicular-immunotherapy-for-bladder-cancer
#16
REVIEW
L Levi, M Groh, N De Castro, A Bergeron, F Schlemmer
BACKGROUND: Bacille of Calmette et Guérin (BCG) immunotherapy is the most effective treatment for non-muscle-invasive bladder cancer. Yet, potentially severe localized or systemic mycobacterial infections can happen. STATE OF KNOWLEDGE: In a patient who underwent BCG instillation for bladder cancer, the diagnosis of BCG infection is usually suggested by more than 3 days of high-grade fever and systemic and/or local symptoms with no other plausible alternative diagnosis...
May 10, 2018: Revue des Maladies Respiratoires
https://www.readbyqxmd.com/read/29754437/reduced-fiber-size-capillary-supply-and-mitochondrial-activity-in-constitutional-thinness-skeletal-muscle
#17
Bogdan Galusca, Julien Verney, Emmanuelle Meugnier, Yiin Ling, Pascal Edouard, Leonard Feasson, Marion Ravelojaona, Hubert Vidal, Bruno Estour, Natacha Germain
AIM: Constitutional thinness (CT) is a rare condition of natural low bodyweight, with no psychological issues, no marker of undernutrition and a resistance to weight gain. This study evaluated the skeletal muscle phenotype of CT women by comparison to a normal BMI control group. METHODS: 10 CT women (BMI< 17.5 kg/m2) and 10 female controls (BMI: 18.5-25 kg/m2) underwent metabolic and hormonal assessment along with muscle biopsies to analyse the skeletal muscular fibers pattern, capillarity, enzymes activities and transcriptomics...
May 13, 2018: Acta Physiologica
https://www.readbyqxmd.com/read/29754289/the-novel-adipokine-wisp1-associates-with-insulin-resistance-and-impairs-insulin-action-in-human-myotubes-and-mouse-hepatocytes
#18
Tina Hörbelt, Christopher Tacke, Mariya Markova, Daniella Herzfeld de Wiza, Frederique Van de Velde, Marlies Bekaert, Yves Van Nieuwenhove, Silke Hornemann, Maria Rödiger, Nicole Seebeck, Elisabeth Friedl, Wenke Jonas, G Hege Thoresen, Oliver Kuss, Anke Rosenthal, Volker Lange, Andreas F H Pfeiffer, Annette Schürmann, Bruno Lapauw, Natalia Rudovich, Olga Pivovarova, D Margriet Ouwens
AIMS/HYPOTHESIS: Wingless-type (Wnt) inducible signalling pathway protein-1 (WISP1) has been recently identified as a proinflammatory adipokine. We examined whether WISP1 expression and circulating levels are altered in type 2 diabetes and whether WISP1 affects insulin signalling in muscle cells and hepatocytes. METHODS: Serum and visceral adipose tissue (VAT) biopsies, for analysis of circulating WISP1 levels by ELISA and WISP1 mRNA expression by real-time quantitative RT-PCR, were collected from normal-weight men (control group, n = 33) and obese men with (n = 46) and without type 2 diabetes (n = 56) undergoing surgery...
May 12, 2018: Diabetologia
https://www.readbyqxmd.com/read/29753567/junctional-adhesion-molecules-jam-b-and-jam-c-promote-autoimmune-mediated-liver-fibrosis-in-mice
#19
Edith Hintermann, Monika Bayer, Clara Benedetta Conti, Sina Fuchs, Michel Fausther, Patrick S Leung, Michel Aurrand-Lions, Richard Taubert, Josef M Pfeilschifter, Mireen Friedrich-Rust, Detlef Schuppan, Jonathan A Dranoff, M Eric Gershwin, Michael P Manns, Beat A Imhof, Urs Christen
Fibrosis remains a serious health concern in patients with chronic liver disease. We recently reported that chemically induced chronic murine liver injury triggers increased expression of junctional adhesion molecules (JAMs) JAM-B and JAM-C by endothelial cells and de novo synthesis of JAM-C by hepatic stellate cells (HSCs). Here, we demonstrate that biopsies of patients suffering from primary biliary cholangitis (PBC), primary sclerosing cholangitis (PSC) or autoimmune hepatitis (AIH) display elevated levels of JAM-C on portal fibroblasts (PFs), HSCs, endothelial cells and cholangiocytes, whereas smooth muscle cells expressed JAM-C constitutively...
May 9, 2018: Journal of Autoimmunity
https://www.readbyqxmd.com/read/29753174/skeletal-muscle-fat-deposition-is-associated-with-hepatocellular-carcinoma-development-in-patients-with-chronic-liver-disease
#20
Yoshihiko Tachi, Akihiro Kozuka, Takanori Hirai, Yuko Kojima, Yoji Ishizu, Takashi Honda, Teiji Kuzuya, Kazuhiko Hayashi, Masatoshi Ishigami, Hidemi Goto
OBJECTIVES: The effect of skeletal muscle fat deposition on the prognosis of patients with chronic liver disease remains unclear. Skeletal muscle fat deposition can be estimated by attenuation of skeletal muscle in Hounsfield units (HU) on computed tomography (CT). The aim of this retrospective cohort study was to investigate the association between skeletal muscle fat deposition assessed by skeletal muscle attenuation (SMA), and hepatocellular carcinoma (HCC). METHODS: We enrolled 288 patients with chronic liver disease (139 men, 149 women; mean age 67...
March 21, 2018: Nutrition
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