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Muscular spindle

Antonella Sferra, Gilbert Baillat, Teresa Rizza, Sabina Barresi, Elisabetta Flex, Giorgio Tasca, Adele D'Amico, Emanuele Bellacchio, Andrea Ciolfi, Viviana Caputo, Serena Cecchetti, Annalaura Torella, Ginevra Zanni, Daria Diodato, Emanuela Piermarini, Marcello Niceta, Antonietta Coppola, Enrico Tedeschi, Diego Martinelli, Carlo Dionisi-Vici, Vincenzo Nigro, Bruno Dallapiccola, Claudia Compagnucci, Marco Tartaglia, Georg Haase, Enrico Bertini
Tubulinopathies constitute a family of neurodevelopmental/neurodegenerative disorders caused by mutations in several genes encoding tubulin isoforms. Loss-of-function mutations in TBCE, encoding one of the five tubulin-specific chaperones involved in tubulin folding and polymerization, cause two rare neurodevelopmental syndromes, hypoparathyroidism-retardation-dysmorphism and Kenny-Caffey syndrome. Although a missense mutation in Tbce has been associated with progressive distal motor neuronopathy in the pmn/pmn mice, no similar degenerative phenotype has been recognized in humans...
October 6, 2016: American Journal of Human Genetics
Ping Yang, Xudong Zhu, Lingling Wang, Nisar Ahmed, Yufei Huang, Hong Chen, Qian Zhang, Shakeeb Ullah, Tengfei Liu, Dawei Guo, Sarfaraz Ahmed Brohi, Qiusheng Chen
Telocytes are a novel type of interstitial cells recently identified in many organs of mammals, but little information in the avian. So this study shows the latest findings associated with telocytes, with a special attention on the magnum of chicken oviduct, in the muscular layer and lamina propria by transmission electron microscopy. Telocytes are characterized by telopodes, which are thin and long prolongations, and a small amount of cytoplasm rich with mitochondria. Different shaped telocytes (spindle to triangular) depending on the number of prolongations...
September 1, 2016: Cell Transplantation
Mona A M Helal, Noura E M Shaheen, Fatma A Abu Zahra
CONTEXT: Cell therapy technique with stem cells is a very attractive strategy for the treatment of muscle disorders. OBJECTIVE: The objective of this study was to investigate the mechanism of local transplantation of mesenchymal stem cells (MSCs) which could contribute to skeletal muscle healing. MATERIALS AND METHODS: Female rats were divided into three equal groups as the following: group 1, the negative control group (untreated group), group 2, sham-treated group, rats with muscle injuries involving volumetric muscle loss (VML) of adductor brevis muscle and injected locally with phosphate-buffered saline (PBS) 0...
August 25, 2016: Immunopharmacology and Immunotoxicology
F Marino, L Licata, M Albano, A Ieni, G Di Caro, B Macrì
A wild adult male conger Conger conger, captured by a SCUBA diver in the waters of coastal Italy, was sent for laboratory analysis due to the presence of multiple productive ulcerous skin lesions localized in the dorso-lateral body area, caudally to the gill operculum under the dorsal fin. The main mass was sessile, ulcerated and hemorrhaging in appearance and was surrounded by several smaller masses, which originated peripherally from the same mass or were isolated, always with a tendency to ulceration. Histology confirmed that the newly formed tissue originated from derma invading the closer tissues...
April 12, 2016: Diseases of Aquatic Organisms
Paulo Afonso Medeiros Kanda, Rafael Guimarães Kanda, Paulo Afonso Mei, Ivan José Cury
We report a case of a child whose EEG demonstrated extreme spindles (ES) after acute lymphoblastic leukemia treatment. This finding has not been reported previously. In 1962, Gibbs and Gibbs described the ES EEG pattern due to its high amplitude (200 to 400 μV). ES are a rare spindle variant that is found in EEGs of 0.05% of normal children (average age, 3 years, with a range of 1 to 12 years), and are even rarer after 11 years. Moreover due to changes in the white matter of the frontal lobe, ES have been associated with such conditions as cerebral palsy and mental retardation, residual brain damage, undefined infections, infantile neuroaxonal dystrophy, Menkes' kinky-hair syndrome, congenital muscular dystrophy, hydrocephalus, porencephaly, epilepsy, progressive cerebellar degeneration, and mycoplasma encephalitis...
December 2015: Neurodiagnostic Journal
Lucio Díaz-Flores, Ricardo Gutiérrez, Hugo Alvarez-Argüelles, Miriam González-Gómez, Maria Del Pino García, Lucio Díaz-Flores
We studied the ultrastructure, immunohistochemistry, and histogenesis of the acral calcified angioleiomyoma, observing three concentric zones: (a) pseudocapsular, thin, with spindle-shaped stromal cells (SCs), presenting scarce organelles and expressing CD34, (b) muscular, forming a ring, with smooth muscle cells of heterogenous phenotype (mainly in quantity and thickness of filaments, and in expression of h-caldesmon, αSMA, and desmin), and (c) central, extensive, calcified (spicular and/or star-shaped calcium deposits around collagen fibers), with pericytic involutive vasculature...
2016: Ultrastructural Pathology
Long-Hai Feng, Hui Dong, Yu-Yao Zhu, Wen-Ming Cong
BACKGROUND: Primary hepatic solitary fibrous tumor is a rare neoplasm that originates in the submesothelial tissue of the liver and is frequently misdiagnosed because of its rarity and unfamiliar characteristics. AIM: To analyze, summarize and update the clinical and pathological features of primary hepatic solitary fibrous tumor. METHODS: We systematically extract the clinical data of 4 cases from the relevant medical records, analyze the macroscopic, histological and immunohistochemical features and review the 59 previously reported cases in the English literatures...
December 2015: Pathology, Research and Practice
Nicolas A Dumont, Yu Xin Wang, Julia von Maltzahn, Alessandra Pasut, C Florian Bentzinger, Caroline E Brun, Michael A Rudnicki
Dystrophin is expressed in differentiated myofibers, in which it is required for sarcolemmal integrity, and loss-of-function mutations in the gene that encodes it result in Duchenne muscular dystrophy (DMD), a disease characterized by progressive and severe skeletal muscle degeneration. Here we found that dystrophin is also highly expressed in activated muscle stem cells (also known as satellite cells), in which it associates with the serine-threonine kinase Mark2 (also known as Par1b), an important regulator of cell polarity...
December 2015: Nature Medicine
Cindy Bandala, Juan Luis Terán-Melo, Maricruz Anaya-Ruiz, Cesar Miguel Mejía-Barradas, Rene Domínguez-Rubio, Paloma De la Garza-Montano, Alfonso Alfaro-Rodríguez, Eleazar Lara-Padilla
AIM: BoNTA is used in the treatment of ophthalmological disorders, muscular hyperactivity and pain. In recent years it has been described that BoNTA reduces cellular viability and induces apoptosis in prostate cells lines. Studies about the effect of BoNTA are no well known. There have been studies about the effect of BoNTA on the expression levels of collagenase in fibroblasts, but not on its morphological impact on these cells. The aim of this study was to determine the effect of BoNTA on the morphology and viability of the 3T3 fibroblast cell line...
2015: International Journal of Clinical and Experimental Pathology
Ruxandra-Iulia Milos, Thomas Moritz, Maria Bernathova, Gabriele Amann, Joannis Panotopoulos, Iris-Melanie Noebauer-Huhmann, Gerd Bodner
OBJECTIVES: To describe the imaging characteristics of superficial desmoid tumors using magnetic resonance imaging (MRI) and high-resolution sonography (HRUS). METHODS: We retrospectively examined 18 patients (12 females and 6 males) with histologically proven superficial desmoids. Fourteen patients received MRI examinations, while 12 patients were examined with HRUS. The lesions were assessed with regard to location, muscular fascia involvement, and spread into the subcutaneous fatty tissue septa, adjacent muscle, and bone...
November 2015: European Journal of Radiology
Fausto Famà, Giovanni Scibilia, Dario Lo Presti, Jessica Palella, Olivier Saint-Marc, Arnaud Piquard, Maria Gioffrè-Florio
Gastrointestinal stromal tumours are rare mesenchymal neoplasms, accounting less than 3% of all the gastrointestinal tumours, that may arise in all portions of the gastrointestinal tract but more frequently they involve stomach and small bowel. Generally are asymptomatic or slight symptomatic, although they may also cause acute clinical conditions. Histologically are characterised by a meshwork of spindle-like cells mixed with fibro-hyaline stroma. The immunohistochemical assessment, marked for a strong immunopositivity for CD117 antibodies, allows the differential diagnosis with others muscular, nervous and fibroblastic tumours...
July 2015: Annali Italiani di Chirurgia
Maja Hempel, Kirsten Cremer, Charlotte W Ockeloen, Klaske D Lichtenbelt, Johanna C Herkert, Jonas Denecke, Tobias B Haack, Alexander M Zink, Jessica Becker, Eva Wohlleber, Jessika Johannsen, Bader Alhaddad, Rolph Pfundt, Sigrid Fuchs, Dagmar Wieczorek, Tim M Strom, Koen L I van Gassen, Tjitske Kleefstra, Christian Kubisch, Hartmut Engels, Davor Lessel
CHAMP1 encodes a protein with a function in kinetochore-microtubule attachment and in the regulation of chromosome segregation, both of which are known to be important for neurodevelopment. By trio whole-exome sequencing, we have identified de novo deleterious mutations in CHAMP1 in five unrelated individuals affected by intellectual disability with severe speech impairment, motor developmental delay, muscular hypotonia, and similar dysmorphic features including short philtrum and a tented upper and everted lover lip...
September 3, 2015: American Journal of Human Genetics
A Beck, S Špičić, M Butorović-Dujmović, I Račić, D Huber, A Gudan Kurilj, R Beck, Ž Cvetnić
Mycobacterial spindle cell 'pseudotumour' has been described only once in cats. This unique proliferation of spindle-shaped histiocytes containing Mycobacterium avium is associated with extensive subcutaneous lesions. We report mycobacterial pseudotumour with invasion of muscular and subcutaneous tissues in a 1-year-old female domestic longhair cat. Lesions involved the facial muscles and nasal cavity, making surgical excision impossible. Necropsy examination revealed additional nodules in the subcutis and muscles of the trunk and submandibular lymph nodes...
November 2015: Journal of Comparative Pathology
Sandrine Floriot, Christine Vesque, Sabrina Rodriguez, Florence Bourgain-Guglielmetti, Anthi Karaiskou, Mathieu Gautier, Amandine Duchesne, Sarah Barbey, Sébastien Fritz, Alexandre Vasilescu, Maud Bertaud, Mohammed Moudjou, Sophie Halliez, Valérie Cormier-Daire, Joyce E L Hokayem, Erich A Nigg, Luc Manciaux, Raphaël Guatteo, Nora Cesbron, Geraldine Toutirais, André Eggen, Sylvie Schneider-Maunoury, Didier Boichard, Joelle Sobczak-Thépot, Laurent Schibler
Caprine-like Generalized Hypoplasia Syndrome (SHGC) is an autosomal-recessive disorder in Montbéliarde cattle. Affected animals present a wide range of clinical features that include the following: delayed development with low birth weight, hind limb muscular hypoplasia, caprine-like thin head and partial coat depigmentation. Here we show that SHGC is caused by a truncating mutation in the CEP250 gene that encodes the centrosomal protein C-Nap1. This mutation results in centrosome splitting, which neither affects centriole ultrastructure and duplication in dividing cells nor centriole function in cilium assembly and mitotic spindle organization...
2015: Nature Communications
Chii-Hong Lee, Tung-Cheng Chang, Jan-Wen Ku
Angiomyomatous hamartoma (AMH) is a rare benign lesion, which occurs almost exclusively in the inguinal lymph nodes. We herein report a case of a female elder who presented with a long-standing inguinal mass. Microscopically, the mass showed a zonal distribution, characterized by thick-walled muscular vessels, fibrosis, and calcification in the hilum and proliferating spindle cells around thin-walled vessels and plexiform vessel tangles at the periphery. The spindle cells show positive immunoreactivity of smooth muscle actin and CD34 with a heterogeneous expression of desmin and CD44...
April 2015: Indian Journal of Pathology & Microbiology
S S Yeung, E W Yeung
AIM: This study aimed to investigate the neuromuscular adaptation following a 5-week high frequency and low amplitude whole body vibration (WBV) exercise training. METHODS: The study is a prospective, double blind, randomized controlled intervention design with a total of 19 subjects volunteered to participate in the study. They were randomly assigned either to WBV exercise training or control group. Both groups participated in a 5-week training program. The intervention group received WBV in semi-squat position on a device with an amplitude of 0...
May 2015: Journal of Sports Medicine and Physical Fitness
Francesco Budini, Lara M McManus, Marika Berchicci, Federica Menotti, Andrea Macaluso, Francesco Di Russo, Madeleine M Lowery, Giuseppe De Vito
The present work aimed at investigating the effects of mechanically amplified tremor on cortico-muscular coherence (CMC) in the alpha band. The study of CMC in this specific band is of particular interest because this coherence is usually absent in healthy individuals and it is an aberrant feature in patients affected by pathological tremors; understanding its mechanisms is therefore important. Thirteen healthy volunteers (23±4 years) performed elbow flexor sustained contractions both against a spring load and in isometric conditions at 20% of maximal voluntary isometric contraction (MVC)...
2014: PloS One
Xiang-Chun Han, Li-Qiang Zheng, Xiao-Ling Shang
Dendritic myxofibrolipoma is a newly described benign soft tissue tumor that could be easily mistaken for sarcoma. It develops primarily in the subcutis or muscular fascia of the head and neck, shoulders, etc. Histologically, the tumor is characterized by an admixture of mature adipose tissue, spindle and stellate cells, and abundant myxoid stroma with prominent collagenization. These neoplasms typically show positive immunoreactivity for CD-34, vimentin and Bcl-2. Herein, we described a rare case presenting with a papule on the nasal tip in a 69-year old patient...
2014: International Journal of Clinical and Experimental Pathology
Larisa G Poddubnaya, Willy Hemmingsen, David I Gibson
The ultrastructure of the haptoral clamps of the chimaericolid monogenean Chimaericola leptogaster, a basal polyopisthocotylean from the gills of a holocephalan fish, is described. These clamps are characterized by the presence of two muscle blocks interrupted mid-anteriorly and mid-posteriorly and different kinds of hard structures: a single median and paired lateral sclerites embedded in the clamp wall; six spine-like structures directed towards the clamp lumen; and electron dense surface structures along the internal surface of the anterior clamp lips and along the luminal surface of the tegument of the clamp lumen...
November 2014: Parasitology Research
Anamaria Bolocan, Susana Quijano-Roy, Andreea M Seferian, Clarisse Baumann, Valérie Allamand, Pascale Richard, Brigitte Estournet, Robert Carlier, Hélène Cavé, Corine Gartioux, Nathalie Blin, Anne-Gaëlle Le Moing, Teresa Gidaro, Dominique P Germain, Michel Fardeau, Thomas Voit, Laurent Servais, Norma Beatriz Romero
We report on a 5-year-old girl who presented with an association of symptoms reminiscent of an Ullrich-like congenital muscular dystrophy including congenital hypotonia, proximal joint contractures, hyperlaxity of distal joints, normal cognitive development, and kyphoscoliosis. There was an excess of neuromuscular spindles on the skeletal muscle biopsy. This very peculiar feature on muscle biopsy has been reported only in patients with mutations in the HRAS gene. Sequence analysis of the subject's HRAS gene from blood leukocytes and skeletal muscle revealed a previously described heterozygous missense mutation (c...
November 2014: Neuromuscular Disorders: NMD
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