Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy.

Science.gov (United States)

Matsuzaka, Yasunari; Kishi, Soichiro; Aoki, Yoshitsugu; Komaki, Hirofumi; Oya, Yasushi; Takeda, Shin-Ichi; Hashido, Kazuo

2014-11-01

Muscular dystrophies are a clinically and genetically heterogeneous group of inherited myogenic disorders. In clinical tests for these diseases, creatine kinase (CK) is generally used as diagnostic blood-based biomarker. However, because CK levels can be altered by various other factors, such as vigorous exercise, etc., false positive is observed. Therefore, three microRNAs (miRNAs), miR-1, miR-133a, and miR-206, were previously reported as alternative biomarkers for duchenne muscular dystrophy (DMD). However, no alternative biomarkers have been established for the other muscular dystrophies. We, therefore, evaluated whether these miR-1, miR-133a, and miR-206 can be used as powerful biomarkers using the serum from muscular dystrophy patients including DMD, myotonic dystrophy 1 (DM1), limb-girdle muscular dystrophy (LGMD), facioscapulohumeral muscular dystrophy (FSHD), becker muscular dystrophy (BMD), and distal myopathy with rimmed vacuoles (DMRV) by qualitative polymerase chain reaction (PCR) amplification assay. Statistical analysis indicated that all these miRNA levels in serum represented no significant differences between all muscle disorders examined in this study and controls by Bonferroni correction. However, some of these indicated significant differences without correction for testing multiple diseases (P < 0.05). The median values of miR-1 levels in the serum of patients with LGMD, FSHD, and BMD were approximately 5.5, 3.3 and 1.7 compared to that in controls, 0.68, respectively. Similarly, those of miR-133a and miR-206 levels in the serum of BMD patients were about 2.5 and 2.1 compared to those in controls, 1.03 and 1.32, respectively. Taken together, our data demonstrate that levels of miR-1, miR-133a, and miR-206 in serum of BMD and miR-1 in sera of LGMD and FSHD patients showed no significant differences compared with those of controls by Bonferroni correction. However, the results might need increase in sample sizes to evaluate these three miRNAs as

Análise da expressão do colágeno VI na distrofia muscular congênita Analysis of the expression of collagen VI in congenital muscular dystrophy

Directory of Open Access Journals (Sweden)

Regina Toni Loureiro de Freitas

2005-06-01

Full Text Available A distrofia muscular congênita (DMC compõe um grupo de miopatias caracterizadas por hipotonia e fraqueza muscular notadas já no primeiro ano de vida. A forma de Ullrich é caracterizada por retrações musculares proximais e hiperextensibilidade distal. Cerca de 40% destes pacientes apresentam mutações em um dos genes que codificam as três sub-unidades do colágeno VI (COL6, acarretando deficiência total ou parcial na marcação da proteína. Analisamos, através de imunofluorescência, a marcação do COL6 em fragmentos musculares de 50 pacientes com DMC, 20 deles com ausência da marcação para merosina. Identificamos 4 casos com deficiência total da marcação do COL6 (8% do total, representando 13% dos casos com marcação normal para merosina. As alterações histológicas musculares dos pacientes com COL6 deficiente eram indistinguíveis das outras formas de DMC, porém mais brandas que as observadas na DMC com deficiência de merosina. Em três dos pacientes com COL6 deficiente observou-se hipotonia e fraqueza muscular, notadas já no período neonatal, atraso do desenvolvimento motor, retrações musculares em joelhos e cotovelos, hiperextensibilidade distal e luxação congênita do quadril (dois pacientes. Um paciente perdeu a capacidade para a marcha, e outro faleceu por problemas respiratórios. A análise da marcação do COL6, assim como da merosina, no tecido muscular de pacientes com DMC pode auxiliar na identificação e caracterização fenotípica dos diversos subtipos de DMC.Congenital muscular dystrophy (CMD composes a group of disorders characterized by hypotonia and muscular weakness noticed in the first year of life. The Ullrich's form is characterized by proximal joint contractures and distal hiperextensibility. About 40% of these patients present mutations in one of the genes that codify the sub-units of the collagen VI protein (COL6, producing total or partial deficiency of the protein expression. We analyzed

The Relationship Between Fractures and DXA Measures of BMD in the Distal Femur of Children and Adolescents With Cerebral Palsy or Muscular Dystrophy

Science.gov (United States)

Henderson, Richard C; Berglund, Lisa M; May, Ryan; Zemel, Babette S; Grossberg, Richard I; Johnson, Julie; Plotkin, Horacio; Stevenson, Richard D; Szalay, Elizabeth; Wong, Brenda; Kecskemethy, Heidi H; Harcke, H Theodore

2010-01-01

Children with limited or no ability to ambulate frequently sustain fragility fractures. Joint contractures, scoliosis, hip dysplasia, and metallic implants often prevent reliable measures of bone mineral density (BMD) in the proximal femur and lumbar spine, where BMD is commonly measured. Further, the relevance of lumbar spine BMD to fracture risk in this population is questionable. In an effort to obtain bone density measures that are both technically feasible and clinically relevant, a technique was developed involving dual-energy X-ray absorptiometry (DXA) measures of the distal femur projected in the lateral plane. The purpose of this study is to test the hypothesis that these new measures of BMD correlate with fractures in children with limited or no ability to ambulate. The relationship between distal femur BMD Z-scores and fracture history was assessed in a cross-sectional study of 619 children aged 6 to 18 years with muscular dystrophy or moderate to severe cerebral palsy compiled from eight centers. There was a strong correlation between fracture history and BMD Z-scores in the distal femur; 35% to 42% of those with BMD Z-scores less than −5 had fractured compared with 13% to 15% of those with BMD Z-scores greater than −1. Risk ratios were 1.06 to 1.15 (95% confidence interval 1.04–1.22), meaning a 6% to 15% increased risk of fracture with each 1.0 decrease in BMD Z-score. In clinical practice, DXA measure of BMD in the distal femur is the technique of choice for the assessment of children with impaired mobility. © 2010 American Society for Bone and Mineral Research PMID:19821773

AnthropMMD: An R package with a graphical user interface for the mean measure of divergence.

Science.gov (United States)

Santos, Frédéric

2018-01-01

The mean measure of divergence is a dissimilarity measure between groups of individuals described by dichotomous variables. It is well suited to datasets with many missing values, and it is generally used to compute distance matrices and represent phenograms. Although often used in biological anthropology and archaeozoology, this method suffers from a lack of implementation in common statistical software. A package for the R statistical software, AnthropMMD, is presented here. Offering a dynamic graphical user interface, it is the first one dedicated to Smith's mean measure of divergence. The package also provides facilities for graphical representations and the crucial step of trait selection, so that the entire analysis can be performed through the graphical user interface. Its use is demonstrated using an artificial dataset, and the impact of trait selection is discussed. Finally, AnthropMMD is compared to three other free tools available for calculating the mean measure of divergence, and is proven to be consistent with them. © 2017 Wiley Periodicals, Inc.

Naturally Protected Muscle Phenotypes: Development of Novel Treatment Strategies for Duchenne Muscular Dystrophy

OpenAIRE

Dowling, Paul; Doran, Philip; Lohan, James; Culligan, Kevin; Ohlendieck, Kay

2004-01-01

Primary abnormalities in the dystrophin gene underlie x-linked muscular dystrophy. However, the absence of the dystrophin isoform Dp427 does not necessarily result in a severe dystrophic phenotype in all muscle groups. Distal mdx muscles, namely extraocular and toe fibres, appear to represent a protected phenotype in muscular dystrophy. Thus, a comparative analysis of affected versus naturally protected muscle cells should lead to a greater knowledge of the molecular pathogenes...

[The significance of Ulex europaeus agglutinin I lectin binding fibers in various muscular diseases].

Science.gov (United States)

Yatabe, K; Hiraguri, M; Sueishi, M; Takeuchi, M; Nonaka, I; Kawai, M

1998-05-01

In the present study, we have reported that Ulex europaeus agglutinin I (UEA I) lectin labeled muscle fibers in distal myopathy with rimmed vacuole formation (DMRV). UEA I binding to muscle fibers was also observed in a small number of biopsies with inflammatory myopathy, but not in other diseases, including neurogenic muscular atrophies and muscular dystrophies. In order to elucidate the relationship between this UEA I binding, rimmed vacuole formation and active autophagocytosis, we examined the UEA I binding fibers in other myopathies which frequently showed rimmed vacuoles, including adult onset acid maltase deficiency, oculo-pharyngo-distal type myopathy and oculopharyngeal muscular dystrophy. No UEA I lectin labeling fiber was observed in the diseases examined. We then studied UEA I binding behavior on 70 biopsies of inflammatory myopathy to characterize the clinical features of UEA I binding positive patients. UEA I binding fibers were observed in 3 of 28 patients (11%) with other collagen diseases, 11 of 36 (31%) without these disorders, and 2 of 6 (33%) with inclusion body myositis. There were no common clinical histories, complications or laboratory findings among the UEA I binding positive patients. In conclusion, a common process may exist between the muscle fiber degeneration in DMRV and subgroups of inflammatory myopathy patients, but the basic mechanism remains to be elucidated.

Muscular system in interna of Peltogaster paguri (Rhizocephala: Peltogastridae).

Science.gov (United States)

Miroliubov, Aleksei A

2017-03-01

Rhizocephalan parasites have a peculiar life cycle, and their adults lost almost all traits found usually in Crustacea. Despite some data on anatomy and ultrastructure of interna of Peltogastridae, some crucial aspects of morphology are still unknown. For example, there is only one mentioning of myocytes found in interna of Rhizocephalans (Sacculina carcini). So we aimed at studying the muscular system of the interna of Peltogaster paguri using serial histological sectioning and fluorescent staining (TRITC-labeled phalloidin) with confocal microscopy. Within the wall of the main trunk we found striated muscular fibers. The majority of these fibers form a unidirectional single spiral. There are additional small fibers that connect the coils of the large spiral. The density of muscular fibers is highest near the externa stalk, and the number of muscle fibers decreases towards the distal part of the main trunk. We suggest that such a muscular system could provide peristaltic movements of the main trunk and the transport of nutrients through the interna. Copyright © 2016 Elsevier Ltd. All rights reserved.

The on-line coupled atmospheric chemistry model system MECO(n) - Part 5: Expanding the Multi-Model-Driver (MMD v2.0) for 2-way data exchange including data interpolation via GRID (v1.0)

Science.gov (United States)

Kerkweg, Astrid; Hofmann, Christiane; Jöckel, Patrick; Mertens, Mariano; Pante, Gregor

2018-03-01

As part of the Modular Earth Submodel System (MESSy), the Multi-Model-Driver (MMD v1.0) was developed to couple online the regional Consortium for Small-scale Modeling (COSMO) model into a driving model, which can be either the regional COSMO model or the global European Centre Hamburg general circulation model (ECHAM) (see Part 2 of the model documentation). The coupled system is called MECO(n), i.e., MESSy-fied ECHAM and COSMO models nested n times. In this article, which is part of the model documentation of the MECO(n) system, the second generation of MMD is introduced. MMD comprises the message-passing infrastructure required for the parallel execution (multiple programme multiple data, MPMD) of different models and the communication of the individual model instances, i.e. between the driving and the driven models. Initially, the MMD library was developed for a one-way coupling between the global chemistry-climate ECHAM/MESSy atmospheric chemistry (EMAC) model and an arbitrary number of (optionally cascaded) instances of the regional chemistry-climate model COSMO/MESSy. Thus, MMD (v1.0) provided only functions for unidirectional data transfer, i.e. from the larger-scale to the smaller-scale models.Soon, extended applications requiring data transfer from the small-scale model back to the larger-scale model became of interest. For instance, the original fields of the larger-scale model can directly be compared to the upscaled small-scale fields to analyse the improvements gained through the small-scale calculations, after the results are upscaled. Moreover, the fields originating from the two different models might be fed into the same diagnostic tool, e.g. the online calculation of the radiative forcing calculated consistently with the same radiation scheme. Last but not least, enabling the two-way data transfer between two models is the first important step on the way to a fully dynamical and chemical two-way coupling of the various model instances.In MMD (v1

The on-line coupled atmospheric chemistry model system MECO(n – Part 5: Expanding the Multi-Model-Driver (MMD v2.0 for 2-way data exchange including data interpolation via GRID (v1.0

Directory of Open Access Journals (Sweden)

A. Kerkweg

2018-03-01

Full Text Available As part of the Modular Earth Submodel System (MESSy, the Multi-Model-Driver (MMD v1.0 was developed to couple online the regional Consortium for Small-scale Modeling (COSMO model into a driving model, which can be either the regional COSMO model or the global European Centre Hamburg general circulation model (ECHAM (see Part 2 of the model documentation. The coupled system is called MECO(n, i.e., MESSy-fied ECHAM and COSMO models nested n times. In this article, which is part of the model documentation of the MECO(n system, the second generation of MMD is introduced. MMD comprises the message-passing infrastructure required for the parallel execution (multiple programme multiple data, MPMD of different models and the communication of the individual model instances, i.e. between the driving and the driven models. Initially, the MMD library was developed for a one-way coupling between the global chemistry–climate ECHAM/MESSy atmospheric chemistry (EMAC model and an arbitrary number of (optionally cascaded instances of the regional chemistry–climate model COSMO/MESSy. Thus, MMD (v1.0 provided only functions for unidirectional data transfer, i.e. from the larger-scale to the smaller-scale models.Soon, extended applications requiring data transfer from the small-scale model back to the larger-scale model became of interest. For instance, the original fields of the larger-scale model can directly be compared to the upscaled small-scale fields to analyse the improvements gained through the small-scale calculations, after the results are upscaled. Moreover, the fields originating from the two different models might be fed into the same diagnostic tool, e.g. the online calculation of the radiative forcing calculated consistently with the same radiation scheme. Last but not least, enabling the two-way data transfer between two models is the first important step on the way to a fully dynamical and chemical two-way coupling of the various model

Spontaneous rupture of the distal iliopsoas tendon: clinical and imaging findings, with anatomic correlations

Energy Technology Data Exchange (ETDEWEB)

Lecouvet, Frederic E.; Vande Berg, Bruno C.; Malghem, Jacques [Universite Catholique de Louvain, Department of Radiology and Medical Imaging, Saint Luc University Hospital, Brussels (Belgium); Demondion, Xavier [Centre Hospitalier Universitaire de Lille, Department of Bone Radiology and Laboratory of Anatomy, Lille (France); Leemrijse, Thibaut [Universite Catholique de Louvain, Department of Orthopedic Surgery, Saint Luc University Hospital, Brussels (Belgium); Devogelaer, Jean-Pierre [Universite Catholique de Louvain, Department of Rheumatology, Saint Luc University Hospital, Brussels (Belgium)

2005-11-01

We report the clinical and imaging findings in two elderly female patients with spontaneous rupture of the distal iliopsoas tendon from the lesser trochanter of the femur. We emphasize the key contribution of magnetic resonance (MR) imaging to this diagnosis and provide an anatomic correlation. Spontaneous rupture of the distal iliopsoas tendon should be kept in mind in the differential diagnosis of acute groin pain in the elderly. MR imaging enables positive diagnosis, by showing mass effect on the anterior aspect of the hip joint, proximal muscle thickening, and abnormal signal intensity, and by demonstrating interruption of the psoas tendon, whereas the distal insertion of the lateral portion of the iliacus muscle remains muscular and is preserved. (orig.)

TRPV3, a thermosensitive channel is expressed in mouse distal colon epithelium

International Nuclear Information System (INIS)

Ueda, Takashi; Yamada, Takahiro; Ugawa, Shinya; Ishida, Yusuke; Shimada, Shoichi

2009-01-01

The thermo-transient receptor potential (thermoTRP) subfamily is composed of channels that are important in nociception and thermo-sensing. Here, we show a selective expression of TRPV3 channel in the distal colon throughout the gastrointestinal tract. Expression analyses clearly revealed that TRPV3 mRNA and proteins were expressed in the superficial epithelial cells of the distal colon, but not in those of the stomach, duodenum or proximal colon. In a subset of primary epithelial cells cultured from the distal colon, carvacrol, an agonist for TRPV3, elevated cytosolic Ca 2+ concentration in a concentration-dependent manner. This response was inhibited by ruthenium red, a TRPV channel antagonist. Organotypic culture supported that the carvacrol-responsive cells were present in superficial epithelial cells. Moreover, application of carvacrol evoked ATP release in primary colonic epithelial cells. We conclude that TRPV3 is present in absorptive cells in the distal colon and may be involved in a variety of cellular functions.

Evaluation of Limb-Girdle Muscular Dystrophy

Science.gov (United States)

2014-03-06

Becker Muscular Dystrophy; Limb-Girdle Muscular Dystrophy, Type 2A (Calpain-3 Deficiency); Limb-Girdle Muscular Dystrophy, Type 2B (Miyoshi Myopathy, Dysferlin Deficiency); Limb-Girdle Muscular Dystrophy, Type 2I (FKRP-deficiency)

Computed tomographic myelography characteristics of spinal cord atrophy in juvenile muscular atrophy of the upper extremity

International Nuclear Information System (INIS)

Hirabuki, Norio; Mitomo, Masanori; Miura, Takashi; Hashimoto, Tsutomu; Kawai, Ryuji; Kozuka, Takahiro

1991-01-01

Although atrophy of the lower cervical and upper thoracic cord in juvenile muscular atrophy of distal upper extremity has been reported, the atrophic patterns of the cord, especially in the transverse section, have not been studied extensively. The aim of this study is to clarify the atrophic patterns of the cord by CT myelography (CTM) and to discuss the pathogenesis of cord atrophy. Sixteen patients with juvenile muscular atrophy of distal upper extremity were examined by CTM. Atrophy of the lower cervical and upper thoracic cord, consistent with the segmental weakness, was seen in all patients. Flattening of the ventral convexity was a characteristic atrophic pattern of the cord. Bilateral cord atrophy was commonly observed; 8/12 patients with unilateral clinical form and all 4 patients with bilateral form showed bilateral cord atrophy with dominance on the clinical side. There was no correlation between the degree of cord atrophy and duration of symptoms. Flattening of the ventral convexity, associated with purely motor disturbances, reflects selective atrophy of the anterior horns in the cord, which is attributable to chronic ischemia. Cord atrophy proved to precede clinical manifestations. The characteristic atrophy of the cord provides useful information to confirm the diagnosis without long-term observation. (author). 21 refs.; 3 figs.; 2 tabs

Rhabdomyolysis featuring muscular dystrophies.

Science.gov (United States)

Lahoria, Rajat; Milone, Margherita

2016-02-15

Rhabdomyolysis is a potentially life threatening condition of various etiology. The association between rhabdomyolysis and muscular dystrophies is under-recognized in clinical practice. To identify muscular dystrophies presenting with rhabdomyolysis at onset or as predominant feature. We retrospectively reviewed clinical and laboratory data of patients with a genetically confirmed muscular dystrophy in whom rhabdomyolysis was the presenting or main clinical manifestation. Thirteen unrelated patients (males=6; females=7) were identified. Median age at time of rhabdomyolysis was 18 years (range, 2-47) and median duration between the first episode of rhabdomyolysis and molecular diagnosis was 2 years. Fukutin-related protein (FKRP) muscular dystrophy (n=6) was the most common diagnosis, followed by anoctaminopathy-5 (n=3), calpainopathy-3 (n=2) and dystrophinopathy (n=2). Four patients experienced recurrent rhabdomyolysis. Eight patients were asymptomatic and 3 reported myalgia and exercise intolerance prior to the rhabdomyolysis. Exercise (n=6) and fever (n=4) were common triggers; rhabdomyolysis was unprovoked in 3 patients. Twelve patients required hospitalization. Baseline CK levels were elevated in all patients (median 1200 IU/L; range, 600-3600). Muscular dystrophies can present with rhabdomyolysis; FKRP mutations are particularly frequent in causing such complication. A persistently elevated CK level in patients with rhabdomyolysis warrants consideration for underlying muscular dystrophy. Copyright © 2015 Elsevier B.V. All rights reserved.

Distally based superficial sural artery flap for soft tissue coverage in the distal 2/3 of leg and foot

Directory of Open Access Journals (Sweden)

Kamath B

2005-01-01

Full Text Available Background: Skin coverage for defects in the lower 2/3 of leg, ankle region and posterior heel has always been a difficult challenge for reconstructive surgeon. Methods: We describe our experience with the distally based superficial sural artery flap coverage in 48 patients with moderate sized defects in these difficult areas. Results: One out of 48 flaps (in 48 patients was lost totally and 3 suffered marginal necrosis which did not require any secondary procedure. These complications could have been avoided by proper selection of cases and refining technical skills. Conclusion: This simple procedure could be an important and versatile tool for any reconstructive surgeon in providing skin coverage in the distal leg and proximal foot. Preservation of major arteries of the lower limb, minimal donor defect, relatively uninjured donor area in compound fracture or poly trauma involving distal leg are some of the advantages of the flap.

Genetics Home Reference: CAV3-related distal myopathy

Science.gov (United States)

... gene causes a peculiar form of distal myopathy. Neurology. 2002 Jan 22;58(2):323-5. Erratum in: Neurology 2002 Mar 12;58(5):839. Itoyoma Y [ ... 3 cause four distinct autosomal dominant muscle diseases. Neurology. 2004 Feb 24;62(4):538-43. Review. ...

Protein turnover and cellular stress in mildly and severely affected muscles from patients with limb girdle muscular dystrophy type 2I.

Directory of Open Access Journals (Sweden)

Simon Hauerslev

Full Text Available Patients with Limb girdle muscular dystrophy type 2I (LGMD2I are characterized by progressive muscle weakness and wasting primarily in the proximal muscles, while distal muscles often are spared. Our aim was to investigate if wasting could be caused by impaired regeneration in the proximal compared to distal muscles. Biopsies were simultaneously obtained from proximal and distal muscles of the same patients with LGMD2I (n = 4 and healthy subjects (n = 4. The level of past muscle regeneration was evaluated by counting internally nucleated fibers and determining actively regenerating fibers by using the developmental markers embryonic myosin heavy chain (eMHC and neural cell adhesion molecule (NCAM and also assessing satellite cell activation status by myogenin positivity. Severe muscle histopathology was occasionally observed in the proximal muscles of patients with LGMD2I whereas distal muscles were always relatively spared. No difference was found in the regeneration markers internally nucleated fibers, actively regenerating fibers or activation status of satellite cells between proximal and distal muscles. Protein turnover, both synthesis and breakdown, as well as cellular stress were highly increased in severely affected muscles compared to mildly affected muscles. Our results indicate that alterations in the protein turnover and myostatin levels could progressively impair the muscle mass maintenance and/or regeneration resulting in gradual muscular atrophy.

Protein Turnover and Cellular Stress in Mildly and Severely Affected Muscles from Patients with Limb Girdle Muscular Dystrophy Type 2I

DEFF Research Database (Denmark)

Hauerslev, Simon; Sveen, Marie-Louise; Vissing, John

2013-01-01

Patients with Limb girdle muscular dystrophy type 2I (LGMD2I) are characterized by progressive muscle weakness and wasting primarily in the proximal muscles, while distal muscles often are spared. Our aim was to investigate if wasting could be caused by impaired regeneration in the proximal...... by using the developmental markers embryonic myosin heavy chain (eMHC) and neural cell adhesion molecule (NCAM) and also assessing satellite cell activation status by myogenin positivity. Severe muscle histopathology was occasionally observed in the proximal muscles of patients with LGMD2I whereas distal...... highly increased in severely affected muscles compared to mildly affected muscles. Our results indicate that alterations in the protein turnover and myostatin levels could progressively impair the muscle mass maintenance and/or regeneration resulting in gradual muscular atrophy....

Cortical Matrix Mineral Density Measured Non-invasively in Pre- and Postmenopausal Women and a Woman with Vitamin D Dependent Rickets.

Science.gov (United States)

Chiang, Cherie Y; Zebaze, Roger; Wang, Xiao-Fang; Ghasem-Zadeh, Ali; Zajac, Jeffrey D; Seeman, Ego

2018-02-28

Reduced bone mineral density (BMD) may be due to reduced mineralized bone matrix volume, incomplete secondary mineralization or reduced primary mineralization. As bone biopsy is invasive, we hypothesized that non-invasive image acquisition at high resolution can accurately quantify matrix mineral density (MMD). Quantification of MMD was confined to voxels attenuation photons above 80% of that produced by fully mineralized bone matrix because attenuation at this level is due to variation in mineralization not porosity. To assess accuracy, 9 cadaveric distal radii were imaged at a voxel size of 82 microns using high resolution peripheral quantitative computed tomography (HR-pQCT, XtremeCT, Scanco Medical AG, Switzerland) and compared with VivaCT 40 (µCT) at 19 microns voxel size. Associations between MMD and porosity were studied in 94 heathy vitamin D replete pre-menopausal, 77 post-menopausal women, and in a 27 year-old woman with vitamin-D Dependent Rickets (VDDR). Microstructure and MMD were quantified using StrAx (StraxCorp, Melbourne, Australia). MMD measured by HR-pQCT and µCT correlated (R = 0.87; p woman with VDDR, MMD was 5.6 SD lower, and porosity was 5.6 SD higher, than the respective trait means in premenopausal women. BMD was reduced (Z scores femoral neck - 4.3 SD, lumbar spine - 3.8 SD). Low radiation HR-pQCT may facilitate non-invasive quantification of bone's MMD and microstructure in health, disease and during treatment. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

Autosomal dominant distal myopathy due to a novel ACTA1 mutation.

Science.gov (United States)

Liewluck, Teerin; Sorenson, Eric J; Walkiewicz, Magdalena A; Rumilla, Kandelaria M; Milone, Margherita

2017-08-01

Mutations in skeletal muscle α-actin 1-encoding gene (ACTA1) cause autosomal dominant or recessive myopathies with marked clinical and pathological heterogeneity. Patients typically develop generalized or limb-girdle pattern of weakness, but recently a family with scapuloperoneal myopathy was reported. We describe a father and 2 children with childhood-to-juvenile onset distal myopathy, carrying a novel dominant ACTA1 variant, c.757G>C (p.Gly253Arg). Father had delayed motor development and developed significant proximal weakness later in life; he was initially misdiagnosed as having spinal muscular atrophy based on electromyographic findings. His children had predominant anterior distal leg and finger extensor involvement. Nemaline rods were abundant on the daughter's biopsy, absent on the father's initial biopsy, and extremely rare on the father's subsequent biopsy a decade later. The father's second biopsy also showed myofibrillar pathology and rare fibers with actin filament aggregates. The present family expands the spectrum of actinopathy to include a distal myopathy. Copyright © 2017 Elsevier B.V. All rights reserved.

Maxillary molar distalization with the dual-force distalizer supported by mini-implants: a clinical study.

Science.gov (United States)

Oberti, Giovanni; Villegas, Carlos; Ealo, Martha; Palacio, John Camilo; Baccetti, Tiziano

2009-03-01

The objective of this prospective study was to describe the clinical effects of a bone-supported molar distalizing appliance, the dual-force distalizer. The study group included 16 patients (mean age, 14.3 years) with Class II molar relationships. Study models and lateral cephalograms were taken before and after the distalizing movement to record significant dental and skeletal changes (Wilcoxon test). The average distalization time was 5 months, with a movement rate of 1.2 mm per month; the distalization amounts were 5.9 +/- 1.72 mm at the crown level and 4.4 +/- 1.41 mm at the furcation level. The average molar inclination was 5.6 degrees +/- 3.7 degrees ; this was less than the amount of inclination generated by bone-supported appliances that use single distalizing forces. The correlation between inclination and distalization was not significant, indicating predominantly bodily movement. The teeth anterior to the first molar moved distally also; the second premolars distalized an average of 4.26 mm, and the incisors retruded by 0.53 mm. The dual-force distalizer is a valid alternative distalizing appliance that generates controlled molar distalization with a good rate of movement and no loss of anchorage.

Muscular dystrophy in a dog resembling human becker muscular dystrophy.

Science.gov (United States)

Baroncelli, A B; Abellonio, F; Pagano, T B; Esposito, I; Peirone, B; Papparella, S; Paciello, O

2014-05-01

A 3-year-old, male Labrador retriever dog was presented with clinical signs of progressive exercise intolerance, bilateral elbow extension, rigidity of the forelimbs, hindlimb flexion and kyphosis. Microscopical examination of muscle tissue showed marked variability in myofibre size, replacement of muscle with mature adipose tissue and degeneration/regeneration of muscle fibres, consistent with muscular dystrophy. Immunohistochemical examination for dystrophin showed markedly reduced labelling with monoclonal antibodies specific for the rod domain and the carboxy-terminal of dystrophin, while expression of β-sarcoglycan, γ-sarcoglycan and β-dystroglycan was normal. Immunoblotting revealed a truncated dystrophin protein of approximately 135 kDa. These findings supported a diagnosis of congenital canine muscular dystrophy resembling Becker muscular dystrophy in man. Copyright © 2014 Elsevier Ltd. All rights reserved.

Skeletal muscle training for spinal muscular atrophy type 3 (Protocol).

NARCIS (Netherlands)

Bartels, B.; Montes, J.; Pol, W.L. van der; Groot, J.F. de

2016-01-01

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease caused by a genetic mutation in the survival motor neuron 1 (SMN1) gene (5q11.2-q13.3) (Lefebvre 1995). With an incidence of one in 10,000 live births, it is the leading genetic cause of infant death (Lunn 2008;

Bone health measured using quantitative ultrasonography in adult males with muscular dystrophy

OpenAIRE

Morse, C.I.; Smith, J.; Denny, A.; Tweedale, J.; Searle, N.D.; Winwood, K.; Onambele-Pearson, G.L.

2016-01-01

Objectives: To compare muscle and bone health markers in adult males (aged 20-59 yrs) with and without muscular dystrophy (MD). Methods: Participants included 11 Fascioscapulohumeral (FSH), 11 Becker?s (Be), 9 limb girdle (LG), 11 Duchenne (DMD), and 14 non-dystrophic controls (CTRL). Physical activity was assessed using Bone (BPAQ) and disability specific (PASIPD) questionnaires. Bone QUS provided T- and Z scores from the Distal Radius (DR) and Mid-shaft tibia (MST). Tibialis anterior cross ...

Spatial information is preferentially processed by the distal part of CA3: implication for memory retrieval.

Science.gov (United States)

Flasbeck, Vera; Atucha, Erika; Nakamura, Nozomu H; Yoshida, Motoharu; Sauvage, Magdalena M

2018-07-16

For the past decades, CA3 was considered as a single functional entity. However, strong differences between the proximal (close to the dentate gyrus) and the distal (close to CA2) parts of CA3 in terms of connectivity patterns, gene expression and electrophysiological properties suggest that it is not the case. We recently showed that proximal CA3 (together with distal CA1) preferentially deals with non-spatial information [1]. In contrast to proximal CA3, distal CA3 mainly receives and predominantly projects to spatially tuned areas. Here, we tested if distal CA3 preferentially processes spatial information, which would suggest a segregation of the spatial information along the proximodistal axis of CA3. We used a high-resolution imaging technique based on the detection of the expression of the immediate-early gene Arc, commonly used to map activity in the medial temporal lobe. We showed that distal CA3 is strongly recruited in a newly designed delayed nonmatching-to-location task with high memory demands in rats, while proximal CA3 is not. These results indicate a functional segregation of CA3 that mirrors the one reported in CA1, and suggest the existence of a distal CA3- proximal CA1 spatial subnetwork. These findings bring further evidence for the existence of 'specialized' spatial and non-spatial subnetworks segregated along the proximodistal axis of the hippocampus and put forward the 'segregated' view of information processing in the hippocampus as a reasonable alternative to the well-accepted 'integrated' view, according to which spatial and non-spatial information are systematically integrated in the hippocampus to form episodic memory. Copyright © 2018. Published by Elsevier B.V.

Peripheral nerve blocks as the sole anesthetic technique in a patient with severe Duchenne muscular dystrophy.

Science.gov (United States)

Bang, Seung Uk; Kim, Yee Suk; Kwon, Woo Jin; Lee, Sang Mook; Kim, Soo Hyang

2016-04-01

General anesthesia and central neuraxial blockades in patients with severe Duchenne muscular dystrophy are associated with high risks of complications, including rhabdomyolysis, malignant hyperthermia, hemodynamic instability, and postoperative mechanical ventilation. Here, we describe peripheral nerve blocks as a safe approach to anesthesia in a patient with severe Duchenne muscular dystrophy who was scheduled to undergo surgery. A 22-year-old male patient was scheduled to undergo reduction and internal fixation of a left distal femur fracture. He had been diagnosed with Duchenne muscular dystrophy at 5 years of age, and had no locomotive capability except for that of the finger flexors and toe extensors. He had developed symptoms associated with dyspnea 5 years before and required intermittent ventilation. We blocked the femoral nerve, lateral femoral cutaneous nerve, and parasacral plexus under ultrasound on the left leg. The patient underwent a successful operation using peripheral nerve blocks with no complications. In conclusion general anesthesia and central neuraxial blockades in patients with severe Duchenne muscular dystrophy are unsafe approaches to anesthesia because of hemodynamic instability and respiratory depression. Peripheral nerve blocks are the best way to reduce the risks of critical complications, and are a safe and feasible approach to anesthesia in patients with severe Duchenne muscular dystrophy.

Sleeve bridging of the rhesus monkey ulnar nerve with muscular branches of the pronator teres: multiple amplification of axonal regeneration

Directory of Open Access Journals (Sweden)

Yu-hui Kou

2015-01-01

Full Text Available Multiple-bud regeneration, i.e., multiple amplification, has been shown to exist in peripheral nerve regeneration. Multiple buds grow towards the distal nerve stump during proximal nerve fiber regeneration. Our previous studies have verified the limit and validity of multiple amplification of peripheral nerve regeneration using small gap sleeve bridging of small donor nerves to repair large receptor nerves in rodents. The present study sought to observe multiple amplification of myelinated nerve fiber regeneration in the primate peripheral nerve. Rhesus monkey models of distal ulnar nerve defects were established and repaired using muscular branches of the right forearm pronator teres. Proximal muscular branches of the pronator teres were sutured into the distal ulnar nerve using the small gap sleeve bridging method. At 6 months after suture, two-finger flexion and mild wrist flexion were restored in the ulnar-sided injured limbs of rhesus monkey. Neurophysiological examination showed that motor nerve conduction velocity reached 22.63 ± 6.34 m/s on the affected side of rhesus monkey. Osmium tetroxide staining demonstrated that the number of myelinated nerve fibers was 1,657 ± 652 in the branches of pronator teres of donor, and 2,661 ± 843 in the repaired ulnar nerve. The rate of multiple amplification of regenerating myelinated nerve fibers was 1.61. These data showed that when muscular branches of the pronator teres were used to repair ulnar nerve in primates, effective regeneration was observed in regenerating nerve fibers, and functions of the injured ulnar nerve were restored to a certain extent. Moreover, multiple amplification was subsequently detected in ulnar nerve axons.

Sleeve bridging of the rhesus monkey ulnar nerve with muscular branches of the pronator teres: multiple amplification of axonal regeneration.

Science.gov (United States)

Kou, Yu-Hui; Zhang, Pei-Xun; Wang, Yan-Hua; Chen, Bo; Han, Na; Xue, Feng; Zhang, Hong-Bo; Yin, Xiao-Feng; Jiang, Bao-Guo

2015-01-01

Multiple-bud regeneration, i.e., multiple amplification, has been shown to exist in peripheral nerve regeneration. Multiple buds grow towards the distal nerve stump during proximal nerve fiber regeneration. Our previous studies have verified the limit and validity of multiple amplification of peripheral nerve regeneration using small gap sleeve bridging of small donor nerves to repair large receptor nerves in rodents. The present study sought to observe multiple amplification of myelinated nerve fiber regeneration in the primate peripheral nerve. Rhesus monkey models of distal ulnar nerve defects were established and repaired using muscular branches of the right forearm pronator teres. Proximal muscular branches of the pronator teres were sutured into the distal ulnar nerve using the small gap sleeve bridging method. At 6 months after suture, two-finger flexion and mild wrist flexion were restored in the ulnar-sided injured limbs of rhesus monkey. Neurophysiological examination showed that motor nerve conduction velocity reached 22.63 ± 6.34 m/s on the affected side of rhesus monkey. Osmium tetroxide staining demonstrated that the number of myelinated nerve fibers was 1,657 ± 652 in the branches of pronator teres of donor, and 2,661 ± 843 in the repaired ulnar nerve. The rate of multiple amplification of regenerating myelinated nerve fibers was 1.61. These data showed that when muscular branches of the pronator teres were used to repair ulnar nerve in primates, effective regeneration was observed in regenerating nerve fibers, and functions of the injured ulnar nerve were restored to a certain extent. Moreover, multiple amplification was subsequently detected in ulnar nerve axons.

Myotonic Muscular Dystrophy

Science.gov (United States)

... Marie-Tooth Disease (CMT) Congenital Muscular Dystrophy (CMD) Duchenne Muscular Dystrophy (DMD) Emery-Dreifuss Muscular Dystrophy Endocrine Myopathies Metabolic Diseases of Muscle Mitochondrial Myopathies (MM) Myotonic Dystrophy (DM) Spinal-Bulbar ...

Prevalence of muscular dystrophy in patients with muscular disorders in Tehran, Iran

Directory of Open Access Journals (Sweden)

Khadijeh Hajinaghi Tehrani

2018-05-01

Full Text Available Muscular dystrophy is a group of diseases that is characterized by progressive muscle wasting and the weakness of variable distribution and severity. On the basis of the distribution of predominant muscle weakness, there are many different kinds of muscular dystrophy. Some dystrophies are especially frequent in certain populations. There are no studies on the prevalence of muscular dystrophy in Iran. This study was aimed to survey the prevalence of muscular dystrophy among Iranian patients with muscular disorders. This analytical cross-sectional study was conducted on 1000 patients with musculoskeletal disorders who visited the dystrophy association of Bou-Ali Hospital (Tehran from June 2014 to June 2016. Patients’ data were extracted using a checklist that included age, gender, age of onset, family history, findings from clinical diagnostic tests and types of muscular dystrophy. The clinical findings were the results of genetic tests; EMG-NCV; para-clinical findings, including LDH and CPK; and pathological findings. All data were analyzed by SPSS V.22 (IBM Inc., NY with Chi Square and One way ANOVA tests. All analyses were performed with P = 0.05 considered as the threshold of statistical significant. Out of the 337 patients studied, 262 (77.7% were male and 75 (22.3% were female. Subjects had a mean (± SD age of 26.08 (± 11.86 years with an age range of 3 to 59 years. The most common types of muscular dystrophy were found to be Duchenne dystrophy (131 cases, 38.9%, limb-girdle dystrophy (91 cases, 27%, Becker dystrophy (58 cases, 17.2%, FSHD dystrophy (31 cases, 9.2%, and SMA (26 cases, 7.7%, respectively. The results showed that a statistically significant relationship between dystrophy types and gender, age, family history, age of diagnosis, CPK and LDH levels (P < 0.001. There were no statistical relationship between dystrophy types and pathological findings (P = 0.57, EMG-NCV test results (P = 0.062, and genetic findings (P = 0

Morphologic imaging in muscular dystrophies and inflammatory myopathies

International Nuclear Information System (INIS)

Degardin, Adrian; Lacour, Arnaud; Vermersch, Patrick; Morillon, David; Cotten, Anne; Stojkovic, Tanya

2010-01-01

To determine if magnetic resonance imaging (MR imaging) is useful in the diagnostic workup of muscular dystrophies and idiopathic inflammatory myopathies for describing the topography of muscle involvement. MR imaging was performed in 31 patients: 8 with dystrophic myotony types 1 (n = 4) or 2 (n = 4); 11 with limb-girdle muscular dystrophy, including dysferlinopathy, calpainopathy, sarcoglycanopathy, and dystrophy associated with fukutin-related protein mutation; 3 with Becker muscular dystrophy; and 9 with idiopathic inflammatory myopathies, including polymyositis, dermatomyositis, and sporadic inclusion body myositis. Analysis of T1 images enabled us to describe the most affected muscles and the muscles usually spared for each muscular disease. In particular, examination of pelvis, thigh, and leg muscles demonstrated significant differences between the muscular diseases. On STIR images, hyperintensities were present in 62% of our patients with muscular dystrophies. A specific pattern of muscular involvement was established for each muscular disease. Hyperintensities observed on STIR images precede fatty degeneration and are not specific for inflammatory myopathies. (orig.)

Morphologic imaging in muscular dystrophies and inflammatory myopathies

Energy Technology Data Exchange (ETDEWEB)

Degardin, Adrian; Lacour, Arnaud; Vermersch, Patrick [CHU de Lille, Clinique neurologique, Lille (France); Morillon, David; Cotten, Anne [CHRU de Lille, Service de Radiologie Osteoarticulaire, Hopital Roger Salengro, Lille (France); Stojkovic, Tanya [G-H Pitie-Salpetriere, Institut de Myologie, Paris (France)

2010-12-15

To determine if magnetic resonance imaging (MR imaging) is useful in the diagnostic workup of muscular dystrophies and idiopathic inflammatory myopathies for describing the topography of muscle involvement. MR imaging was performed in 31 patients: 8 with dystrophic myotony types 1 (n = 4) or 2 (n = 4); 11 with limb-girdle muscular dystrophy, including dysferlinopathy, calpainopathy, sarcoglycanopathy, and dystrophy associated with fukutin-related protein mutation; 3 with Becker muscular dystrophy; and 9 with idiopathic inflammatory myopathies, including polymyositis, dermatomyositis, and sporadic inclusion body myositis. Analysis of T1 images enabled us to describe the most affected muscles and the muscles usually spared for each muscular disease. In particular, examination of pelvis, thigh, and leg muscles demonstrated significant differences between the muscular diseases. On STIR images, hyperintensities were present in 62% of our patients with muscular dystrophies. A specific pattern of muscular involvement was established for each muscular disease. Hyperintensities observed on STIR images precede fatty degeneration and are not specific for inflammatory myopathies. (orig.)

Relationship between muscle strength and motor function in Duchenne muscular dystrophy

Directory of Open Access Journals (Sweden)

Milene F. Nunes

2016-07-01

Full Text Available ABSTRACT Measuring muscle strength and motor function is part of Duchenne muscular dystrophy (DMD assessment. However, the relationship between these variables is controversial. Objective To investigate the relationship between muscle strength and motor function and between these variables and age. Method Muscle strength was measured by Medical Research Council (MRC scale and motor function, by Motor Function Measure (MFM, in 40 non-ambulatory patients. Spearman tests investigated the relationships between muscle strength, motor function and age. Results Total MRC and MFM scores were strongly related to each other (r = 0.94; p 0.05. Strong and moderate relationships between partial muscle strength and motor function scores were found. Higher correlation coefficients were found between total scores and Dimensions 2 (axial/ proximal control and 3 (distal control of MFM. Conclusion Muscle strength and motor function are strongly correlated and seem to decrease proportionally in DMD.

Muscular anatomy of the Podocoryna carnea hydrorhiza.

Science.gov (United States)

Buss, Leo W; Anderson, Christopher; Bolton, Edward W

2013-01-01

The muscular anatomy of the athecate hydroid Podocoryna carnea hydrorhiza is elucidated. The polyp-stolon junction is characterized by an opening, here called the chloe, in the otherwise continuous hydrorhizal perisarc. The chloe is elliptical when the polyp first arises, but takes on a more complex outline as multiple stolons anastomose to communicate with that polyp. Surrounding the polyp base are spots, here called anchors, which autofluoresce at the same wavelengths as perisarc and which, like perisarc, contain chitin as assessed by Calcofluor White, Congo Red and wheat germ agglutinin staining. Anchors remain after living tissues are digested using KOH. Collagen IV staining indicates that the mesoglea is pegged to the anchors and rhodamine phallodin staining detects cytoskeletal F-actin fibers of the basal epidermis surrounding the anchors. Longitudinal muscle fibers of the polyp broaden at the polyp base and are inserted into the mesoglea of the underlying stolon, but were neither observed to extend along the stolonal axis nor to attach to the anchors. Circular muscular fibers of the polyp extend into stolons as a dense collection of strands running along the proximal-distal axis of the stolon. These gastrodermal axial muscular fibers extend to the stolon tip. Epidermal cells at the stolon tip and the polyp bud display a regular apical latticework of F-actin staining. A similar meshwork of F-actin staining was found in the extreme basal epidermis of all stolons. Immunohistochemical staining for tubulin revealed nerves at stolon tips, but at no other hydrorhizal locations. These studies bear on the mechanisms by which the stolon tip and polyp bud pulsate, the manner in which the stolon lumen closes, and on the developmental origin of the basal epidermis of the hydrorhiza.

Defective Ca2+ channel clustering in axon terminals disturbs excitability in motoneurons in spinal muscular atrophy

OpenAIRE

Jablonka, Sibylle; Beck, Marcus; Lechner, Barbara Dorothea; Mayer, Christine; Sendtner, Michael

2007-01-01

Proximal spinal muscular atrophy (SMA) is a motoneuron disease for which there is currently no effective treatment. In animal models of SMA, spinal motoneurons exhibit reduced axon elongation and growth cone size. These defects correlate with reduced β-actin messenger RNA and protein levels in distal axons. We show that survival motoneuron gene (Smn)–deficient motoneurons exhibit severe defects in clustering Cav2.2 channels in axonal growth cones. These defects also correlate with a reduced f...

Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort.

Science.gov (United States)

Vengalil, Seena; Preethish-Kumar, Veeramani; Polavarapu, Kiran; Mahadevappa, Manjunath; Sekar, Deepha; Purushottam, Meera; Thomas, Priya Treesa; Nashi, Saraswathi; Nalini, Atchayaram

2017-01-01

Studies of cases of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) confirmed by multiplex ligation-dependent probe amplification (MLPA) have determined the clinical characteristics, genotype, and relations between the reading frame and phenotype for different countries. This is the first such study from India. A retrospective genotype-phenotype analysis of 317 MLPA-confirmed patients with DMD or BMD who visited the neuromuscular clinic of a quaternary referral center in southern India. The 317 patients comprised 279 cases of DMD (88%), 32 of BMD (10.1%), and 6 of intermediate phenotype (1.9%). Deletions accounted for 91.8% of cases, with duplications causing the remaining 8.2%. There were 254 cases of DMD (91%) with deletions and 25 (9%) due to duplications, and 31 cases (96.8%) of BMD with deletions and 1 (3.2%) due to duplication. All six cases of intermediate type were due to deletions. The most-common mutation was a single-exon deletion. Deletions of six or fewer exons constituted 68.8% of cases. The deletion of exon 50 was the most common. The reading-frame rule held in 90% of DMD and 94% of BMD cases. A tendency toward a lower IQ and earlier wheelchair dependence was observed with distal exon deletions, though a significant correlation was not found. The reading-frame rule held in 90% to 94% of children, which is consistent with reports from other parts of the world. However, testing by MLPA is a limitation, and advanced sequencing methods including analysis of the structure of mutant dystrophin is needed for more-accurate assessments of the genotype-phenotype correlation.

The Effects of Acupuncture on Cerebral and Muscular Microcirculation: A Systematic Review of Near-Infrared Spectroscopy Studies

Directory of Open Access Journals (Sweden)

Ming-Yu Lo

2015-01-01

Full Text Available Acupuncture produces physiological effects via stimulating acupoints, proximal or distal to the region of effect. Near-infrared spectroscopy (NIRS noninvasively measures tissue-level hemodynamics in real time. We review the literature investigating the effect of acupuncture on muscular and/or cerebral microcirculation. As the basis, we queried PubMed in June 2014 for articles mentioning both acupuncture and NIRS in title/abstract. The reviewed papers investigated either cerebral (n = 11 or muscular hemodynamics (n = 5 and, based on STRICTA for reporting acupuncture methodology, were overall poor in quality. Acupuncture was found to influence regional oxygen saturation in cerebral and muscular tissue. The cortical response in healthy subjects varied across studies. For subjects with stroke or cerebrovascular dementia, findings suggest that acupuncture may modulate dysfunction in cerebral autoregulation. The muscular response to pressure techniques was more intense than that to needling or laser. Probe proximity could impact measurement sensitivity. No one study simultaneously investigated the direct and remote responses. Research utilizing NIRS to investigate the hemodynamics of acupuncture presently lacks in scope and quality. Improved designs, for example, placebo-controlled, randomized trials, and standardized intervention reporting will raise study quality. Exploiting NIRS in clinical settings, such as stroke, migraine, or other pain conditions, is worthwhile.

No significant effect of monosomy for distal 21q22. 3 on the Down syndrom phenotype in mirror' duplications of chromosome 21

Energy Technology Data Exchange (ETDEWEB)

Pangalos, C.; Prieur, M.; Rethore, M.O.; Lejeune, J. (Institut de Progenese, Paris (France)); Theophile, D.; Sinet, P.M.; Chettouh, Z.; Delabar, J.M. (Hopital Necker Enfants Malades, Paris (France)); Marks, A. (Univ. of Toronto, Ontario (Canada)); Stamboulieh-Abazis, D. (Diagnostic Genetic Center, Athens (Greece)); Verellen, C. (Centre de Genetique Humaine, Brussels (Belgium))

1992-12-01

Three Down syndrome patients for whom karyotypic analysis showed a mirror' (reverse tandem) duplication of chromosome 21 were studied by phenotypic, cytogenetic, and molecular methods. On high-resolution R-banding analysis performed in two cases, the size of the fusion 21q22.3 band was apparently less than twice the size of the normal 21q22.3, suggesting a partial deletion of distal 21q. The evaluation of eight chromosome 21 single-copy sequences of the 21q22 region - namely, SOD1, D21S15, D21S42, CRYA1, PFKL, CD18, COL6A1, and S100B - by a slot blot method showed in all three cases a partial deletion of 21q22.3 and partial monosomy. The translocation breakpoints were different in each patient, and in two cases the rearranged chromosome was found to be asymmetrical. The molecular definition of the monosomy 21 in each patient was, respectively, COL6A1-S100B, CD18-S100B, and PFKL-S100B. DNA polymorphism analysis indicated in all cases a homozygosity of the duplicated material. The duplicated region was maternal in two patients and paternal in one patient. These data suggest that the reverse tandem chromosomes did not result from a telomeric fusion between chromosomes 21 but from a translocation between sister chromatids. The phenotypes of these patients did not differ significantly from that of individuals with full trisomy 21, except in one case with large ears with an unfolded helix. The fact that monosomy of distal 21q22.3 in these patients resulted in a phenotype very similar to Down syndrome suggests that the duplication of the genes located in this part of chromosome 21 is not necessary for the pathogenesis of the Down syndrome features observed in these patients, including most of the facial and hand features, muscular hypotonia, cardiopathy of the Fallot tetralogy type, and part of the mental retardation. 54 refs., 5 figs., 3 tabs.

Caffeine ingestion acutely enhances muscular strength and power but not muscular endurance in resistance-trained men.

Science.gov (United States)

Grgic, Jozo; Mikulic, Pavle

2017-09-01

The goal of this randomized, double-blind, cross-over study was to assess the acute effects of caffeine ingestion on muscular strength and power, muscular endurance, rate of perceived exertion (RPE), and pain perception (PP) in resistance-trained men. Seventeen volunteers (mean ± SD: age = 26 ± 6 years, stature = 182 ± 9 cm, body mass = 84 ± 9 kg, resistance training experience = 7 ± 3 years) consumed placebo or 6 mg kg -1 of anhydrous caffeine 1 h before testing. Muscular power was assessed with seated medicine ball throw and vertical jump exercises, muscular strength with one-repetition maximum (1RM) barbell back squat and bench press exercises, and muscular endurance with repetitions of back squat and bench press exercises (load corresponding to 60% of 1RM) to momentary muscular failure. RPE and PP were assessed immediately after the completion of the back squat and bench press exercises. Compared to placebo, caffeine intake enhanced 1RM back squat performance (+2.8%; effect size [ES] = 0.19; p = .016), which was accompanied by a reduced RPE (+7%; ES = 0.53; p = .037), and seated medicine ball throw performance (+4.3%, ES = 0.32; p = .009). Improvements in 1RM bench press were not noted although there were significant (p = .029) decreases in PP related to this exercise when participants ingested caffeine. The results point to an acute benefit of caffeine intake in enhancing lower-body strength, likely due to a decrease in RPE; upper-, but not lower-body power; and no effects on muscular endurance, in resistance-trained men. Individuals competing in events in which strength and power are important performance-related factors may consider taking 6 mg kg -1 of caffeine pre-training/competition for performance enhancement.

Serum Creatinine Distinguishes Duchenne Muscular Dystrophy from Becker Muscular Dystrophy in Patients Aged ≤3 Years: A Retrospective Study

Directory of Open Access Journals (Sweden)

Liang Wang

2017-05-01

Full Text Available Here, we investigated correlations between serum creatinine (SCRN levels and clinical phenotypes of dystrophinopathy in young patients. Sixty-eight patients with dystrophinopathy at the Neuromuscular Clinic, The First Affiliated Hospital, Sun Yat-sen University, were selected for this study. The diagnosis of dystrophinopathy was based on clinical manifestation, biochemical changes, and molecular analysis. Some patients underwent muscle biopsies; SCRN levels were tested when patients were ≤3 years old, and reading frame changes were analyzed. Each patient was followed up, and motor function and clinical phenotype were assessed when the same patients were ≥4 years old. Our findings indicated that in young patients, lower SCRN levels were associated with increased disease severity (p < 0.01 and that SCRN levels were the highest in patients exhibiting mild Becker muscular dystrophy (BMD (p < 0.001 and the lowest in patients with Duchenne muscular dystrophy (DMD (p < 0.01 and were significantly higher in patients carrying in-frame mutations than in patients carrying out-of-frame mutations (p < 0.001. SCRN level cutoff values for identifying mild BMD [18 µmol/L; area under the curve (AUC: 0.947; p < 0.001] and DMD (17 µmol/L; AUC: 0.837; p < 0.001 were established. These results suggest that SCRN might be a valuable biomarker for distinguishing DMD from BMD in patients aged ≤3 years and could assist in the selection of appropriate treatment strategies.

Efeitos da fadiga muscular induzida por exercícios no tempo de reação muscular dos fibulares em indivíduos sadios Efectos de la fatiga muscular inducida por ejercicios sobre el tiempo de reacción muscular peronea en individuos sanos Effects of the exercise-induced muscular fatigue on the time of muscular reaction of the fibularis in healthy individuals

Directory of Open Access Journals (Sweden)

Bruno Araújo Rego Santos Silva

2006-04-01

Full Text Available A fadiga muscular (FM é um fenômeno comum nas atividades esportivas e diárias, resultando numa piora da performance motora. Ela é considerada um dos fatores causadores de lesões músculo-esqueléticas. A entorse de tornozelo é um exemplo: a FM afetaria tanto o sistema aferente quanto o eferente. Vários estudos têm analisado a influência da FM no controle neuromuscular (CNM; entretanto, existe pouca pesquisa sobre essa influência na velocidade de reação dos músculos. O objetivo deste estudo foi verificar os efeitos da FM no tempo de reação muscular (TRM dos músculos fibulares, que são os primeiros a responder a um estresse em inversão do tornozelo. Foram estudados 14 indivíduos saudáveis masculinos (idade: 20-35 anos, que tiveram seus TRM avaliados por meio de eletromiografia (EMG de superfície. O início da atividade muscular foi definido como a média de repouso + 3x o desvio-padrão (DP. O TRM dos fibulares foi mensurado após uma inversão súbita de 20º realizada numa plataforma. A inversão súbita foi realizada antes e depois da fadiga muscular, que foi induzida por exercícios localizados dos fibulares até a exaustão. Os resultados mostraram que houve um aumento significativo do tempo de reação muscular após a fadiga (p La fatiga muscular (FM es un fenómeno común en las actividades diarias, produciendo un empeoramiento de la actuación. Se la considera una de las causas de factores lesionantes musculares de esqueleto. El esguince del tobillo es un ejemplo: La FM afectaría tanto el sistema aferente cuanto el eferente. Varios estudios han estado analizando la influencia de FM en el comando neuromuscular (CNM, sin embargo, la existen pocas investigaciones sobre la influencia en la velocidad de reacción de los músculos. El objetivo de ese estudio era verificar los efectos de FM en el tiempo de reacción muscular (TRM de los músculos peroneos, que son los primeros en responder a una tensión en la inversi

Muscular Dystrophy

Science.gov (United States)

... sets of muscles and cause different degrees of muscle weakness. Duchenne muscular dystrophy is the most common and the most severe ... can walk independently. Prednisone If a child has Duchenne muscular ... to help slow the rate of muscle deterioration. By doing so, the child may be ...

Restoration of half the normal dystrophin sequence in a double-deletion Duchenne muscular dystrophy family

Energy Technology Data Exchange (ETDEWEB)

Hoop, R.C.; Schwartz, L.S.; Hoffman, E.P. [Univ. of Pittsburgh School of Medicine, Pittsburgh, PA (United States); Russo, L.S. [Univ. of Florida, Jacksonville, FL (United States); Riconda, D.L. [Orlando Regional Medical Center, Orlando, FL (United States)

1994-02-01

Two male cousins with Duchenne muscular dystrophy were found to have different maternal dystrophin gene haplotypes and different deletion mutations. One propositus showed two noncontiguous deletions-one in the 5{prime}, proximal deletional hotspot region, and the other in the 3{prime}, more distal deletional hotspot region. The second propositus showed only the 5{prime} deletion. Using multiple fluorescent exon dosage and fluorescent multiplex CA repeat linkage analyses, the authors show that the mother of each propositus carries both deletions on the same grandmaternal X chromosome. This paradox is explained by a single recombinational event between the 2 deleted regions of one of the carrier`s dystrophin genes, giving rise to a son with a partially {open_quotes}repaired{close_quotes} gene retaining only the 5{prime} deletion. 20 refs., 4 figs.

Muscle reinnervation in one or two stages?: experimental study in rats with end-to-side nerve graft Reinervação muscular em um ou dois estágios?: estudo experimental em ratos com enxerto de nervo término-lateral

Directory of Open Access Journals (Sweden)

Joseli Assem Bersaneti

2012-12-01

Full Text Available PURPOSE: To compare muscle reinnervation in one and two surgical stages using end-to-side neurorrhaphy (ESN without donor nerve injury. METHODS: The experiment was performed on four groups of 20 rats. Group 1 (G1, one stage, received the graft which was sutured to the tibial nerve, with ESN, and its free stump was sutured end-to-end to the distal stump of the sectioned peroneal nerve (PN, all in the same operation. In Group 2 (G2, two stages, the nerve graft was sutured to the tibial nerve, with ESN. Two months later the PN was sectioned and its distal stump connected to the distal stump of the graft as in G1. Normal control group (Gn received the graft only sutured to the tibial nerve, with ESN. Denervated control group (Gd, as well received the graft and had the PN sectioned and its two stumps buried in adjacent musculature, with the aim of denervating the cranial tibial muscle (CTM, the target of this study. The parameters used to evaluate CTM reinnervation were muscle mass, muscle fiber's minimum diameter and area. RESULTS: The mean CTM mass, the average of the muscular fibers areas and the average of the muscular fiber minimum diameters was higher (all pOBJETIVO: Comparar a reinervação muscular com enxerto de nervo em um e dois tempos operatórios, utilizando a neurorrafia término-lateral (NTL sem lesão do nervo doador. MÉTODOS: Vinte ratos foram distribuídos em quatro grupos. O grupo 1 (G1, um estágio, recebeu o enxerto que foi suturado ao nervo tibial (NT, por meio de NTL, e seu coto livre foi suturado por NTL ao coto distal do nervo peroneal (NP, seccionado a um centímetro do NT, na mesma cirurgia. O grupo 2 (G2, dois estágios, recebeu o enxerto de nervo na primeira cirurgia, como já descrito. Dois meses depois, na segunda cirurgia, o NP foi seccionado e seu coto distal ligado ao coto distal do enxerto como em G1. O grupo controle de normalidade (Gn recebeu o enxerto da mesma forma, apenas. E o grupo controle de denerva

An innovative technique to distalize maxillary molar using microimplant supported rapid molar distalizer

Directory of Open Access Journals (Sweden)

Meenu Goel

2013-01-01

Full Text Available Introduction: In recent years, enhancements in implants have made their use possible as a mode of absolute anchorage in orthodontic patients. In this paper, the authors have introduced an innovative technique to unilaterally distalize the upper left 1 st molar to obtain an ideal Class I molar relationship from a Class II existing molar relationship with an indigenous designed distalizer. Clinical Innovation: For effective unilateral diatalization of molar, a novel cantilever sliding jig assembly was utilized with coil spring supported by a buccally placed single micro implant. The results showed 3 mm of bodily distalization with 1 mm of intrusion and 2° of distal tipping of upper left 1 st molar in 1.5 months. Discussion: This appliance is relatively easy to insert, well-tolerated, and requires minimal patient cooperation compared to other present techniques of molar distalization. Moreover, it is particularly useful in cases that are Class II on one side and Class I on the other, with a minor midline discrepancy and nominal overjet. Patient acceptance level was reported to be within patients physiological and comfort limits.

Comparison of 7T and 3T MRI in patients with moyamoya disease.

Science.gov (United States)

Oh, Byeong Ho; Moon, Hyeong Cheol; Baek, Hyeon Man; Lee, Youn Joo; Kim, Sang Woo; Jeon, Young Jai; Lee, Gun Seok; Kim, Hong Rae; Choi, Jai Ho; Min, Kyung Soo; Lee, Mou Seop; Kim, Young Gyu; Kim, Dong Ho; Kim, Won Seop; Park, Young Seok

2017-04-01

Magnetic resonance imaging and magnetic resonance angiography (MRI/MRA) are widely used for evaluating the moyamoya disease (MMD). This study compared the diagnostic accuracy of 7Tesla (T) and 3T MRI/MRA in MMD. In this case control study, 12 patients [median age: 34years; range (10-66years)] with MMD and 12 healthy controls [median age: 25years; range (22-59years)] underwent both 7T and 3T MRI/MRA. To evaluate the accuracy of MRI/MRA in MMD, five criteria were compared between imaging systems of 7T and 3T: Suzuki grading system, internal carotid artery (ICA) diameter, ivy sign, flow void of the basal ganglia on T2-weighted images, and high signal intensity areas of the basal ganglia on time-of-flight (TOF) source images. No difference was observed between 7T and 3T MRI/MRA in Suzuki stage, ICA diameter, and ivy sign score; while, 7T MRI/MRA showed a higher detection rate in the flow void on T2-weighted images and TOF source images (p<0.001). Receiver operating characteristic curves of both T2 and TOF criteria showed that 7T MRI/MRA had higher sensitivity and specificity than 3T MRI/MRA. Our findings indicate that 7T MRI/MRA is superior to 3T MRI/MRA for the diagnosis of MMD in point of detecting the flow void in basal ganglia by T2-weighted and TOF images. Copyright © 2016. Published by Elsevier Inc.

Comparison of standard laparoscopic distal pancreatectomy with minimally invasive distal pancreatectomy using the da Vinci S system.

Science.gov (United States)

Ito, Masahiro; Asano, Yukio; Shimizu, Tomohiro; Uyama, Ichiro; Horiguchi, Akihiko

2014-01-01

Minimally invasive procedures for pancreatic pathologies are increasingly being used, including distal pancreatectomy. This study aimed to assess the indications for and outcomes of the da Vinci distal pancreatectomy procedure. We reviewed the medical records of patients who underwent pancreatic head resection from April 2009 to September 2013. Four patients (mean age, 52.7 years) underwent da Vinci distal pancreatectomy and 10 (mean age, 68.0 +/- 12.1 years) underwent laparoscopic distal pancreatectomy. The mean surgical duration was 292 +/- 153 min and 306 +/- 29 min, the mean blood loss was 153 +/- 71 mL and 61.7 +/- 72 mL, and the mean postoperative length of stay was 24 +/- 11 days and 14 +/- 3 days in the da Vinci distal pancreatectomy and laparoscopic distal pancreatectomy groups, respectively. One patient who underwent da Vinci distal pancreatectomy developed a pancreatic fistula, while 2 patients in the laparoscopic distal pancreatectomy group developed splenic ischemia and gastric torsion, respectively. Laparoscopic and robotic pancreatic resection were both safe and feasible in selected patients with distal pancreatic pathologies. Further studies are necessary to clarify the role of robotic surgery in the advanced laparoscopic era.

Body Composition, Muscular Strength and Bone Status among Undernourished Children in Malaysia

International Nuclear Information System (INIS)

Chong, Kar Hau; Poh, Bee Koon

2014-01-01

Full text: Despite significant advances in social and economic development, undernutrition remains a devastating public health problem that affects millions of children across the globe, particularly in developing nations. It is important to understand how changes in nutritional status affect physical health and function, so that undernutrition-related alterations can be identified and interpreted correctly. This paper aimed to determine the impact of undernutrition in children through the assessment of three nutrition-related indicators: body composition, muscular strength and bone status. This study is part of the Nutrition Survey of Malaysian Children, which is part of the four-country South East Asian Nutrition Surveys (SEANUTS). A total of 208 school children (102 boys, 106 girls) in the age range of 7 to 10 years were included in this analysis, of which 104 were underweight (WAZ<-2SD) and 104 were normal-weight group (-2SD≤WAZ≤+2SD), individually-matched for sex, age, and ethnicity. Anthropometric measurements included weight and height; and body composition was measured by bioelectrical impedance analysis. Muscular strength of both hands was assessed independently by hand-held dynamometer. Bone status was evaluated using a radial quantitative ultrasound system at one-third distal radius of the non-dominant hand. Anthropometric measurements and bone status were not significantly different between the sexes. Boys had significantly higher muscular strength and lean mass (p<0.05), but lower fat mass when compared to the girls (p<0.01). In both sexes, the undernourished group presented significantly lower anthropometric and body composition measurements and muscular strength than their normal-weight counterparts (p<0.001). However, no significant differences were observed for bone status between the two weight groups in boys (p = 0.09) and girls (p = 0.98). These findings imply that undernutrition can have profound negative impact on body composition as well

Muscular Oxygen Uptake Kinetics in Aged Adults.

Science.gov (United States)

Koschate, J; Drescher, U; Baum, K; Eichberg, S; Schiffer, T; Latsch, J; Brixius, K; Hoffmann, U

2016-06-01

Pulmonary oxygen uptake (V˙O2) kinetics and heart rate kinetics are influenced by age and fitness. Muscular V˙O2 kinetics can be estimated from heart rate and pulmonary V˙O2. In this study the applicability of a test using pseudo-random binary sequences in combination with a model to estimate muscular V˙O2 kinetics was tested. Muscular V˙O2 kinetics were expected to be faster than pulmonary V˙O2 kinetics, slowed in aged subjects and correlated with maximum V˙O2 and heart rate kinetics. 27 elderly subjects (73±3 years; 81.1±8.2 kg; 175±4.7 cm) participated. Cardiorespiratory kinetics were assessed using the maximum of cross-correlation functions, higher maxima implying faster kinetics. Muscular V˙O2 kinetics were faster than pulmonary V˙O2 kinetics (0.31±0.1 vs. 0.29±0.1 s; p=0.004). Heart rate kinetics were not correlated with muscular or pulmonary V˙O2 kinetics or maximum V˙O2. Muscular V˙O2 kinetics correlated with maximum V˙O2 (r=0.35; p=0.033). This suggests, that muscular V˙O2 kinetics are faster than estimates from pulmonary V˙O2 and related to maximum V˙O2 in aged subjects. In the future this experimental approach may help to characterize alterations in muscular V˙O2 under various conditions independent of motivation and maximal effort. © Georg Thieme Verlag KG Stuttgart · New York.

Comparison of 3 Minimally Invasive Methods for Distal Tibia Fractures.

Science.gov (United States)

Fang, Jun-Hao; Wu, Yao-Sen; Guo, Xiao-Shan; Sun, Liao-Jun

2016-07-01

This study compared the results of external fixation combined with limited open reduction and internal fixation (EF + LORIF), minimally invasive percutaneous plate osteosynthesis (MIPPO), and intramedullary nailing (IMN) for distal tibia fractures. A total of 84 patients with distal tibia shaft fractures were randomized to operative stabilization using EF + LORIF (28 cases), MIPPO (28 cases), or IMN (28 cases). The 3 groups were comparable with respect to patient demographics. Data were collected on operative time and radiation time, union time, complications, time of recovery to work, secondary operations, and measured joint function using the American Orthopaedic Foot and Ankle Society (AOFAS) score. There was no significant difference in time to union, incidence of union status, time of recovery to work, and AOFAS scores among the 3 groups (P>.05). Mean operative time and radiation time in the MIPPO group were longer than those in the IMN or EF + LORIF groups (Pknee pain occurred frequently after IMN (32.1%), and irritation symptoms were encountered more frequently after MIPPO (46.4%). Although EF + LORIF was associated with fewer secondary procedures vs MIPPO or IMN, it was related with more pin-tract infections (14.3%). Findings indicated that EF + LORIF, MIPPO, and IMN all achieved similar good functional results. However, EF + LORIF had some advantages over MIPPO and IMN in reducing operative and radiation times, postoperative complications, and reoperation rate. [Orthopedics. 2016; 39(4):e627-e633.]. Copyright 2016, SLACK Incorporated.

Robotic distal pancreatectomy versus conventional laparoscopic distal pancreatectomy: a comparative study for short-term outcomes.

Science.gov (United States)

Lai, Eric C H; Tang, Chung Ngai

2015-09-01

Robotic system has been increasingly used in pancreatectomy. However, the effectiveness of this method remains uncertain. This study compared the surgical outcomes between robot-assisted laparoscopic distal pancreatectomy and conventional laparoscopic distal pancreatectomy. During a 15-year period, 35 patients underwent minimally invasive approach of distal pancreatectomy in our center. Seventeen of these patients had robot-assisted laparoscopic approach, and the remaining 18 had conventional laparoscopic approach. Their operative parameters and perioperative outcomes were analyzed retrospectively in a prospective database. The mean operating time in the robotic group (221.4 min) was significantly longer than that in the laparoscopic group (173.6 min) (P = 0.026). Both robotic and conventional laparoscopic groups presented no significant difference in spleen-preservation rate (52.9% vs. 38.9%) (P = 0.505), operative blood loss (100.3 ml vs. 268.3 ml) (P = 0.29), overall morbidity rate (47.1% vs. 38.9%) (P = 0.73), and post-operative hospital stay (11.4 days vs. 14.2 days) (P = 0.46). Both groups also showed no perioperative mortality. Similar outcomes were observed in robotic distal pancreatectomy and conventional laparoscopic approach. However, robotic approach tended to have the advantages of less blood loss and shorter hospital stay. Further studies are necessary to determine the clinical position of robotic distal pancreatectomy.

Limb-Girdle Muscular Dystrophy (LGMD)

Science.gov (United States)

... Marie-Tooth Disease (CMT) Congenital Muscular Dystrophy (CMD) Duchenne Muscular Dystrophy (DMD) Emery-Dreifuss Muscular Dystrophy Endocrine Myopathies Metabolic Diseases of Muscle Mitochondrial Myopathies (MM) Myotonic Dystrophy (DM) Spinal-Bulbar ...

Double muscle innervation using end-to-side neurorrhaphy in rats Dupla inervação muscular com neurorrafia término-lateral em ratos

Directory of Open Access Journals (Sweden)

Elisangela Jeronymo Stipp-Brambilla

2012-01-01

Full Text Available CONTEXT AND OBJECTIVE: One of the techniques used for treating facial paralysis is double muscle innervation using end-to-end neurorrhaphy with sectioning of healthy nerves. The aim of this study was to evaluate whether double muscle innervation by means of end-to-side neurorrhaphy could occur, with maintenance of muscle innervation. DESIGN AND SETTING: Experimental study developed at the Experimental Research Center, Faculdade de Medicina de Botucatu, Unesp. METHODS: One hundred rats were allocated to five groups as follows: G1, control group; G2, the peroneal nerve was sectioned; G3, the tibial nerve was transected and the proximal stump was end-to-side sutured to the intact peroneal nerve; G4, 120 days after the G3 surgery, the peroneal nerve was sectioned proximally to the neurorrhaphy; G5, 120 days after the G3 surgery, the peroneal and tibial nerves were sectioned proximally to the neurorrhaphy. RESULTS: One hundred and fifty days after the surgery, G3 did not show any change in tibial muscle weight or muscle fiber diameter, but the axonal fiber diameter in the peroneal nerve distal to the neurorrhaphy had decreased. Although G4 showed atrophy of the cranial tibial muscle 30 days after sectioning the peroneal nerve, the electrophysiological test results and axonal diameter measurement confirmed that muscle reinnervation had occurred. CONCLUSION: These findings suggest that double muscle innervation did not occur through end-to-side neurorrhaphy; the tibial nerve was not able to maintain muscle innervation after the peroneal nerve had been sectioned, although muscle reinnervation was found to have occurred, 30 days after the peroneal nerve had been sectioned.CONTEXTO E OBJETIVO: Uma das técnicas utilizadas para tratamento da paralisia facial é a dupla inervação muscular com neurorrafia término-terminal, seccionando-se nervos sadios. O objetivo deste trabalho foi avaliar a ocorrência de dupla inervação muscular através de

The muscular expression of RAS in patients with achalasia.

Science.gov (United States)

Casselbrant, A; Kostic, S; Lönroth, H

2015-09-01

Angiotensin II (AngII) elicits smooth muscle contractions via activation of AngII type 1 receptor (AT1R) in the intestinal wall and in sphincter regions in several species. Achalasia is a rare swallowing disorder and is characterized by a loss of the wave-like contraction that forces food through the oesophagus and a failure of the lower oesophageal sphincter to relax during swallowing. The present study was undertaken to elucidate expression and distribution of a local renin-angiotensin system (RAS) in the muscular layer of distal normal human oesophagus as well as in patients with achalasia using western blot analysis, immunohistochemistry and polymerase chain reaction (PCR). AT1R, together with enzyme renin and cathepsin D expression were decreased in patients with achalasia. In contrast, the mast cells chymase, cathepsin G, neprilysin and the receptor for angiotensin 1-7 peptides, the MAS receptor, were increased in patients with achalasia. The results showed the existence of a local RAS in human oesophageal muscular layer. The enzymes responsible for AngII production are different and there has been a shift in receptor physiology from AT1R to MAS receptor in patients with achalasia. These changes in the RAS might play a significant role in the physiological motor control for patients with achalasia. © The Author(s) 2014.

Chondromyxoid fibroma of distal 1/3 rd of fibula a rare tumour at rare ...

African Journals Online (AJOL)

Chondromyxoid fibromas are rare, benign tumours account for <1% of primary bone neoplasms. Most commonly affected in 2nd and 3rdof life. We report one such case of chondromyxoid fibroma in distal fibula of a 15-year-old girl. The patient was managed with lower 3rd fibulectomy and fibular turnoplasty from middle 3rd ...

Neuroelectrophysiological indexes and clinical characteristics of patients with peroneal muscular atrophy: Retrospective analysis of 24 cases

Institute of Scientific and Technical Information of China (English)

Changchun Su; Qinbao Qin

2006-01-01

/s and 3.1 m/s, respectively. Slowing conduction velocity and muscular strength involvement were disproportionate, I.e. Myasthenia was relatively lessened, sensory and motor conduction velocities were greatly decreased. Nerve conduction velocity in distal end of two lower extremities was not detected in 8 patients, but who could still walk.CONCLUSION: ①PMA of patients is characterized by insidious onset and gradually progressive course of disease. Clinical symptom is the base to diagnose PMA. ②Neuroelectrophysiological study is a simple and easy-to-operate means with good reproducibility in diagnosing PMA. Patients with abnormal myasthenia in lower extremity can be detected in the early stage.

Distal corporoplasty for distal cylinders extrusion after penile prosthesis implantation.

Science.gov (United States)

Carrino, Maurizio; Chiancone, Francesco; Battaglia, Gaetano; Pucci, Luigi; Fedelini, Paolo

2017-02-03

Distal extrusion of cylinders is a potential complication of the penile prosthesis implantation. Several methods have been proposed for repairing a distal penile erosion. We present our preliminary experience in "Distal corporoplasty" technique. We enrolled 18 consecutive patients whose underwent a distal corporoplasty with simultaneous reimplantation of an "AMS 700 inflatable penile prosthesis (LGX)" from January 2013 to November 2015 at our hospital. All procedures were performed by a single surgical team. Intraoperative and postoperative complications have been classified and reported according to Satava6 and Clavien-Dindo (CD) system.7 Mean values with standard deviations (±SD) were computed and reported for all items. Mean age of the patients was 53.61 (±11.90) years. Mean body max index (BMI) was 24.22 (±2.51). Mean operative time was 85.2 (±13.1) minutes. Blood losses were minimal. No intraoperative complications are reported according to Satava classification. Four out of 18 patients (22.22%) experienced postoperative complications according to CD system. All patients had sexual intercourse for the first time postsurgery after a mean of 59.11 ± 2.08 days. Mean follow-up was 22.11 (±9.95). Distal extrusion of cylinders is a potential complication of the penile prosthesis implantation. Distal corporoplasty was first described by Mulcahy. He reported a series of 14 patients with a follow-up of about 2 years with optimal functional outcomes. Moreover, distal corporoplasty resulted in shorter operative time, better function, less pain, and fewer recurrences than Gortex windsock repair.10 In our experience, distal corporoplasty is a simple and safe procedure in the treatment of distal cylinders extrusion when the prosthetic material is not exposed to the exterior.

[New anterolateral approach of distal femur for treatment of distal femoral fractures].

Science.gov (United States)

Zhang, Bin; Dai, Min; Zou, Fan; Luo, Song; Li, Binhua; Qiu, Ping; Nie, Tao

2013-11-01

To assess the effectiveness of the new anterolateral approach of the distal femur for the treatment of distal femoral fractures. Between July 2007 and December 2009, 58 patients with distal femoral fractures were treated by new anterolateral approach of the distal femur in 28 patients (new approach group) and by conventional approach in 30 patients (conventional approach group). There was no significant difference in gender, age, cause of injury, affected side, type of fracture, disease duration, complication, or preoperative intervention (P > 0.05). The operation time, intraoperative blood loss, intraoperative fluoroscopy frequency, hospitalization days, and Hospital for Special Surgery (HSS) score of knee were recorded. Operation was successfully completed in all patients of 2 groups, and healing of incision by first intention was obtained; no vascular and nerves injuries occurred. The operation time and intraoperative fluoroscopy frequency of new approach group were significantly less than those of conventional approach group (P 0.05). All patients were followed up 12-36 months (mean, 19.8 months). Bone union was shown on X-ray films; the fracture healing time was (12.62 +/- 2.34) weeks in the new approach group and was (13.78 +/- 1.94) weeks in the conventional approach group, showing no significant difference (t=2.78, P=0.10). The knee HSS score at last follow-up was 94.4 +/- 4.2 in the new approach group, and was 89.2 +/- 6.0 in the conventional approach group, showing significant difference between 2 groups (t=3.85, P=0.00). New anterolateral approach of the distal femur for distal femoral fractures has the advantages of exposure plenitude, minimal tissue trauma, and early function rehabilitation training so as to enhance the function recovery of knee joint.

Avaliação da força de preensão e funcionalidade após fratura distal de rádio/Evaluation of strength and functionality after distal radius fracture

Directory of Open Access Journals (Sweden)

Bruno Goto Kimura

2017-09-01

Full Text Available Esse estudo teve objetivo avaliar se existe diferença em relação a força de preensão e funcionalidade de pacientes com fratura distal de rádio em relação ao gênero e ao tipo de tratamento (conservador e cirúrgico. Os pacientes recrutados para este estudo foram divididos em dois grupos, grupo de homens (G1 e grupo de mulheres (G2. Todos os voluntários realizaram uma única avaliação da força de preensão palmar e a avaliação funcional pelos questionários Disability of the Arm, Shoulder and Hand (DASH e Patient Rated Wrist Evaluation (PRWE.Os valores de força de preensão foram significativamente (p<0,000 menores no grupo de mulheres 5,42 (±3,42 e no tratamento conservador 5,20 (±4,91 quando comparados aos homens 16,01 (±6,86 e ao tratamento cirúrgico 12,28 (±7,56. Enquanto que os valores de incapacidade, avaliados pelos questionários DASH e PRWE, foram maiores no grupo de mulheres e pacientes que realizaram tratamento conservador, porém não foram encontradas diferenças significativas. As fraturas distais de rádio se não reabilitadas precocemente podem comprometer a amplitude de movimento, a força muscular, a precisão, a destreza e controle dos movimentos. Neste caso, os questionários de funcionalidade são um parâmetro importante que refletem o desempenho do indivíduo durante a realização de atividades de vida diária, sendo que quanto pior os escores, pior o desempenho e autonomia desses pacientes. Nesse estudo, podemos concluir que o gênero e o tipo de tratamento influenciaram na diminuição da força de preensão e na maior incapacidade funcional na avaliação inicial após 45 dias da fratura. AbstractThis study had the objective of evaluating whether there is a difference in the grip strength and functionality of patients with distal radius fracture in relation to gender and type of treatment (conservative and surgical. The patients recruited for this study were divided into two groups, group of men (G1

Bortezomib partially improves laminin α2 chain-deficient muscular dystrophy.

Science.gov (United States)

Körner, Zandra; Fontes-Oliveira, Cibely C; Holmberg, Johan; Carmignac, Virginie; Durbeej, Madeleine

2014-05-01

Congenital muscular dystrophy, caused by mutations in LAMA2 (the gene encoding laminin α2 chain), is a severe and incapacitating disease for which no therapy is yet available. We have recently demonstrated that proteasome activity is increased in laminin α2 chain-deficient muscle and that treatment with the nonpharmaceutical proteasome inhibitor MG-132 reduces muscle pathology in laminin α2 chain-deficient dy(3K)/dy(3K) mice. Here, we explore the use of the selective and therapeutic proteasome inhibitor bortezomib (currently used for treatment of relapsed multiple myeloma and mantle cell lymphoma) in dy(3K)/dy(3K) mice and in congenital muscular dystrophy type 1A muscle cells. Outcome measures included quantitative muscle morphology, gene and miRNA expression analyses, proteasome activity, motor activity, and survival. Bortezomib improved several histological hallmarks of disease, partially normalized miRNA expression (miR-1 and miR-133a), and enhanced body weight, locomotion, and survival of dy(3K)/dy(3K) mice. In addition, bortezomib reduced proteasome activity in congenital muscular dystrophy type 1A myoblasts and myotubes. These findings provide evidence that the proteasome inhibitor bortezomib partially reduces laminin α2 chain-deficient muscular dystrophy. Investigation of the clinical efficacy of bortezomib administration in congenital muscular dystrophy type 1A clinical trials may be warranted. Copyright © 2014 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.

Science.gov (United States)

Mercuri, Eugenio; Bushby, Kate; Ricci, Enzo; Birchall, Daniel; Pane, Marika; Kinali, Maria; Allsop, Joanna; Nigro, Vincenzo; Sáenz, Amets; Nascimbeni, Annachiara; Fulizio, Luigi; Angelini, Corrado; Muntoni, Francesco

2005-02-01

Limb girdle muscular dystrophy 2A is a common variant secondary to mutations in the calpain 3 gene. A proportion of patients has early and severe contractures, which can cause diagnostic difficulties with other conditions. We report clinical and muscle magnetic resonance imaging findings in seven limb girdle muscular dystrophy 2A patients (four sporadic and three familial) who had prominent and early contractures. All patients showed a striking involvement of the posterior thigh muscles. The involvement of the other thigh muscles was variable and was related to clinical severity. Young patients with minimal functional motor impairment showed a predominant involvement of the adductors and semimembranosus muscles while patients with restricted ambulation had a more diffuse involvement of the posterolateral muscles of the thigh and of the vastus intermedius with relative sparing of the vastus lateralis, sartorius and gracilis. At calf level all patients showed involvement of the soleus muscle and of the medial head of the gastrocnemius with relative sparing of the lateral head. MRI findings were correlated to those found in two patients with the phenotype of limb girdle muscular dystrophy 2A without early contractures and the pattern observed was quite similar. However, the pattern observed in limb girdle muscular dystrophy 2A is different from that reported in other muscle diseases such as Emery-Dreifuss muscular dystrophy and Bethlem myopathy which have a significant clinical overlap with limb girdle muscular dystrophy 2A once early contractures are present. Our results suggest that muscle MRI may help in recognising patients with limb girdle muscular dystrophy 2A even when the clinical presentation overlaps with other conditions, and may therefore, be used as an additional investigation to target the appropriate biochemical and genetic tests.

BEEF CATTLE MUSCULARITY CANDIDATE GENES

Directory of Open Access Journals (Sweden)

Irida Novianti

2010-04-01

Full Text Available Muscularity is a potential indicator for the selection of more productive cattle. Mapping quantitative trait loci (QTL for traits related to muscularity is useful to identify the genomic regions where the genes affecting muscularity reside. QTL analysis from a Limousin-Jersey double backcross herd was conducted using QTL Express software with cohort and breed as the fixed effects. Nine QTL suggested to have an association with muscularity were identified on cattle chromosomes BTA 1, 2, 3, 4, 5, 8, 12, 14 and 17. The myostatin gene is located at the centromeric end of chromosome 2 and not surprisingly, the Limousin myostatin F94L variant accounted for the QTL on BTA2. However, when the myostatin F94L genotype was included as an additional fixed effect, the QTL on BTA17 was also no longer significant. This result suggests that there may be gene(s that have epistatic effects with myostatin located on cattle chromosome 17. Based on the position of the QTL in base pairs, all the genes that reside in the region were determined using the Ensembl data base (www.ensembl.org. There were two potential candidate genes residing within these QTL regions were selected. They were Smad nuclear interacting protein 1 (SNIP1 and similar to follistatin-like 5 (FSTL5. (JIIPB 2010 Vol 20 No 1: 1-10

Radiographic characteristics of the forelimb distal phalanx and microscopic morphology of the lateral palmar process in foals 3-32 weeks old

International Nuclear Information System (INIS)

Kaneps, A.J.; Stover, S.M.; O'Brien, T.R.; Pool, R.R.; Willits, N.H.

1995-01-01

Developmental morphology of the forelimb distal phalanges and lateral palmar processes of 9 Thoroughbred foals aged 3–32 weeks was assessed using radiography, microradiography and histology. For inclusion in the study, all distal phalanges had no pathologic radiographic abnormalities.Vascular channels that are characteristically found in the dorsal region of the distal phalanx were not evident radiographically in the palmar process. The proximal and distal angles of the palmar processes were separated by a lucent line continuous with the incisure in foals only through 12 weeks of age. The distal phalanges were triangular-shaped in foals 3–12 weeks of age, and were oval-shaped in older foals.The palmar aspect of the distal phalanx was the major contributor to growth of the distal phalanx in the sagittal plane, especially between 3 and 12 weeks of age. Growth of the lateral palmar process occurred through the means of endochondral ossification. The body and cortices of the lateral palmar process were composed of coarse cancellous bone. Porosity within the lateral palmar process was greater in regions sampled axial, compared to abaxial, to the parietal sulcus and did not change with age.A fracture was identified microradiographically and/or histologically in 9 of 18 (50%) and 10 of 17 (59%), respectively, of the lateral palmar processes examined. The fracture line was consistently associated with the parietal sulcus on the dorsal cortical surface and was always immediately abaxial to the deep digital flexor tendon attachment. No age-related morphological changes of the lateral palmar processes were identified with microradiography or histological examinations

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.

Science.gov (United States)

Maroofian, Reza; Riemersma, Moniek; Jae, Lucas T; Zhianabed, Narges; Willemsen, Marjolein H; Wissink-Lindhout, Willemijn M; Willemsen, Michèl A; de Brouwer, Arjan P M; Mehrjardi, Mohammad Yahya Vahidi; Ashrafi, Mahmoud Reza; Kusters, Benno; Kleefstra, Tjitske; Jamshidi, Yalda; Nasseri, Mojila; Pfundt, Rolph; Brummelkamp, Thijn R; Abbaszadegan, Mohammad Reza; Lefeber, Dirk J; van Bokhoven, Hans

2017-12-22

The phenotypic severity of congenital muscular dystrophy-dystroglycanopathy (MDDG) syndromes associated with aberrant glycosylation of α-dystroglycan ranges from the severe Walker-Warburg syndrome or muscle-eye-brain disease to mild, late-onset, isolated limb-girdle muscular dystrophy without neural involvement. However, muscular dystrophy is invariably found across the spectrum of MDDG patients. Using linkage mapping and whole-exome sequencing in two families with an unexplained neurodevelopmental disorder, we have identified homozygous and compound heterozygous mutations in B3GALNT2. The first family comprises two brothers of Dutch non-consanguineous parents presenting with mild ID and behavioral problems. Immunohistochemical analysis of muscle biopsy revealed no significant aberrations, in line with the absence of a muscular phenotype in the affected siblings. The second family includes five affected individuals from an Iranian consanguineous kindred with mild-to-moderate intellectual disability (ID) and epilepsy without any notable neuroimaging, muscle, or eye abnormalities. Complementation assays of the compound heterozygous mutations identified in the two brothers had a comparable effect on the O-glycosylation of α-dystroglycan as previously reported mutations that are associated with severe muscular phenotypes. In conclusion, we show that mutations in B3GALNT2 can give rise to a novel MDDG syndrome presentation, characterized by ID associated variably with seizure, but without any apparent muscular involvement. Importantly, B3GALNT2 activity does not fully correlate with the severity of the phenotype as assessed by the complementation assay.

Força e arquitetura muscular do gémeo interno na bomba muscular venosa

OpenAIRE

Peixoto, Flávia; Pinto, Ângela; Kozlova, Veronika; Crisóstomo, Rute

2015-01-01

Objetivo: Avaliar e comparar a Força Muscular (FM), Amplitude de Movimento (ADM) e Arquitetura Muscular da bomba muscular venosa em sujeitos com e sem Insuficiência Venosa Crónica (IVC). Relevância: A IVC provoca alterações na função da bomba muscular venosa, no entanto, pouco se conhece acerca das suas repercussões físicas e funcionais. Amostra: Sujeitos com IVC (alterações da tróficas, e úlcera ativa/cicatrizada) e saudáveis. Foram avaliados 33 sujeitos dos quais foram analis...

Distal digital replantation.

Science.gov (United States)

Jazayeri, Leila; Klausner, Jill Q; Chang, James

2013-11-01

Hand surgeons have been hesitant to perform distal digital replantation because of the technical challenges and the perception of a high cost-to-benefit ratio. Recent studies, however, have shown high survival rates and excellent functional and aesthetic results, providing renewed enthusiasm for distal replantation. The authors reviewed the literature and summarize key points regarding the surgical treatment, perioperative care, and outcomes of distal digital replantation. They describe specific techniques and considerations for surgical repair in each of four distal zones as described by Sebastin and Chung. Zone 1A replantation involves an artery-only anastomosis of a longitudinal pulp artery. Venous anastomosis first becomes possible in zone 1B. Zone 1C involves periarticular amputations where arthrodesis of the distal interphalangeal joint is usually indicated. Repair of the artery, vein, and nerve is technically optimal in zone 1D, where venous anastomosis should be performed. Overall, survival rates for distal digital replantation are similar to those reported for more proximal replantation. The literature reports good outcomes regarding nail salvage, fingertip sensibility, and range of motion, with restoration of length and aesthetic appearance. Distal replantation performed at institutions that specialize in microsurgery and specifically tailored to the level of injury is associated with good survival, function, and patient satisfaction and superior aesthetic outcome. More prospective data are needed to evaluate the cost of treatment, psychological outcomes, and functional outcomes of distal replantation compared with revision amputation.

Human Umbilical Cord Mesenchymal Stem Cells in the Treatment of Duchenne Muscular Dystrophy: Safety and Feasibility Study in India.

Science.gov (United States)

Rajput, B S; Chakrabarti, Swarup K; Dongare, Vaishali S; Ramirez, Christina M; Deb, Kaushik D

2015-01-01

Duchenne muscular dystrophy (DMD) is a musculo-degenerative disease characterized by lack of dystrophin production with no definite cure available currently. Discarded umbilical cord is a potential source of mesenchymal stem cells which are non-immunogenic and can be used for transplantation in allogenic set ups. Given the regenerative and anti-inflammatory properties of mesenchymal stem cells (MSCs), here we investigated its role in the cellular therapy of DMD patients. This is a single-blinded study conducted in various hospitals of India situated in Mumbai, Delhi, and Lucknow. Inclusion criteria for enrolling the patients in the study were boys aged between 5 to 18 years, absence of dystrophin in the immunohistochemistry of muscle biopsy and mutation in dystrophin gene in cytogenetic analysis. The exclusion criteria were presence of dystrophin in the muscle biopsy, patients on corticosteroids etc. UC-MSCs (2 millions/kg body weight) were administered through IV and IM injection. Muscle power in muscles of proximal upper limb, distal upper limb, proximal lower limb, distal lower limb, hip flexors, hip extensors, hip abductors, and paraspinal muscles were measured in 11 DMD patients after UC-MSCs transplantation and were followed for up to 3 years (average follow up 1.5 years). 5 DMD patients did not receive any UC-MSCs transplantation and served as the control group. The treatment group (N = 11 at baseline) had a pretransplantation strength of 3.45 ± 1.0357 and 4.090 ± 0.8312 in muscles of proximal upper limb and distal upper limb respectively. After 1 year (N = 9) these strengths remained stable with an average of 3.78 (1.03) and 4.22 (0.83). In contrast, the control group (N = 5) has a pre-transplantation strength of 3.6 (0.54) and 4 (1) in the proximal and distal upper limb respectively. After 1 year, (N = 5) 3/5 subjects had a slight but not statistically significant decrease in the proximal upper limb, mean 3.0 (1.0) and 5/5 had a lunit decrease in

Learn About Neuromuscular Disease

Science.gov (United States)

... cause weakness and degeneration of the skeletal muscles. Becker muscular dystrophy (BMD) Congenital muscular dystrophies (CMD) Bethlem CMD Fukuyama ... Hyperkalemic periodic paralysis Hypokalemic periodic paralysis Myotonia ... muscular dystrophy Vocal cord and pharyngeal distal myopathy Welander distal ...

The effect of core training on distal limb performance during ballistic strike manoeuvres.

Science.gov (United States)

Lee, Benjamin; McGill, Stuart

2017-09-01

Ballistic limb motion is enabled by proximal "core" stiffness. However, controversy exists regarding the best method of training this characteristic. This study sought to determine the most effective core training method to enhance distal limb athleticism. A total of 12 participants (24 ± 3 years, 1.8 ± 0.05 m, 76.8 ± 9.7 kg) consisting of Muay Thai athletes performed a core training protocol (Isometric vs. Dynamic, with Control) for 6 weeks, using a repeated measures design to assess performance (peak strike velocity, peak impact force, muscular activation) in various strikes. Isometric training increased impact force in Jab (554.4 ± 70.1 N), Cross (1895.2 ± 203.1 N), Combo (616.8 ± 54.9 N), and Knee (1240.0 ± 89.1 N) trials (P training increased strike velocity in Jab (1.3 ± 0.2 m · s -1 ), Cross (5.5 ± 0.9 m · s -1 ), Combo (0.7 ± 0.1, 2.8 ± 0.3 m · s -1 ), and Knee (3.2 ± 0.3 m · s -1 ) trials (P training increased Combo impact force 935.1 ± 100.3 N greater than Dynamic and 931.6 ± 108.5 N more than Control (P training increased Jab strike velocity 1.3 ± 0.1 m · s -1 greater than Isometric and 0.8 ± 0.1 m · s -1 more than Control (P core training are needed to enhance both velocity and force in distal limbs.

Structural Organization of Muscular Elements of a Skin-Muscular Sac of Trematodes: Literature Survey

OpenAIRE

Kanat Kambarovich Akhmetov; Irina Yurievna Chidunchi

2015-01-01

The issue of structural organization of muscular elements of a trematodes’ skin-muscular sac is considered in the study. Special attention is paid to an analysis of materials of preceding researches, study of foreign authors and also to additional literature reflecting peculiarities of structure of a trematodes’ body muscular system. The stated issue is insufficiently studied and calls for further researches. A comparative analysis of places of trematodes’ localization, taking into considerat...

Potassium secretion in mammalian distal colon

DEFF Research Database (Denmark)

Sørensen, Mads Vaarby

2009-01-01

Epithelial organs adjust the „inner milieu“ of the body and are crucial for all homeostatic processes. Epithelial transport of different solutes and water is regulated phenomena. The regulation processes include both long term hormonal regulation and short term local agonist mediated regulation....... This research project is the summary of 3 original papers addressing the functional role of different regulating factors on ion transport in mouse distal colon. The first paper addresses the effect of luminal nucleotides on electrogenic Na+ absorption. The distal colon, like the distal nephron is an aldosterone......-sensitive tissue and participates in the regulation of Na+ excretion. In the distal nephron it was found that luminal nucleotides inhibit ENaC-mediated Na+ absorption. Here it was addressed whether luminal nucleotides regulate Na+ absorption and if so, which of the known luminal P2 receptors are involved. Using...

Calpain 3 is important for muscle regeneration: Evidence from patients with limb girdle muscular dystrophies

Directory of Open Access Journals (Sweden)

Hauerslev Simon

2012-03-01

Full Text Available Abstract Background Limb girdle muscular dystrophy (LGMD type 2A is caused by mutations in the CAPN3 gene and complete lack of functional calpain 3 leads to the most severe muscle wasting. Calpain 3 is suggested to be involved in maturation of contractile elements after muscle degeneration. The aim of this study was to investigate how mutations in the four functional domains of calpain 3 affect muscle regeneration. Methods We studied muscle regeneration in 22 patients with LGMD2A with calpain 3 deficiency, in five patients with LGMD2I, with a secondary reduction in calpain 3, and in five patients with Becker muscular dystrophy (BMD with normal calpain 3 levels. Regeneration was assessed by using the developmental markers neonatal myosin heavy chain (nMHC, vimentin, MyoD and myogenin and counting internally nucleated fibers. Results We found that the recent regeneration as determined by the number of nMHC/vimentin-positive fibers was greatly diminished in severely affected LGMD2A patients compared to similarly affected patients with LGMD2I and BMD. Whorled fibers, a sign of aberrant regeneration, was highly elevated in patients with a complete lack of calpain 3 compared to patients with residual calpain 3. Regeneration is not affected by location of the mutation in the CAPN3 gene. Conclusions Our findings suggest that calpain 3 is needed for the regenerative process probably during sarcomere remodeling as the complete lack of functional calpain 3 leads to the most severe phenotypes.

Unilateral maxillary molar distalization with zygoma-gear appliance.

Science.gov (United States)

Kilkis, Dogan; Bayram, Mehmet; Celikoglu, Mevlut; Nur, Metin

2012-08-01

The aim of this study was to present the orthodontic treatment of a 15-year-old boy with a unilateral maxillary molar distalization system, called the zygoma-gear appliance. It consisted of a zygomatic anchorage miniplate, an inner bow, and a Sentalloy closed coil spring (GAC International, Bohemia, NY). A distalizing force of 350 g was used during the distalization period. The unilateral Class II malocclusion was corrected in 5 months with the zygoma-gear appliance. The maxillary left first molar showed distalization of 4 mm with an inclination of 3°. The maxillary premolars moved distally with the help of the transseptal fibers. In addition, there were slight decreases in overjet (-0.5 mm) and maxillary incisor inclination (-1°), indicating no anchorage loss from the zygoma-gear appliance. Preadjusted fixed appliances (0.022 × 0.028-in, MBT system; 3M Unitek, Monrovia, Calif) were placed in both arches to achieve leveling and alignment. After 14 months of unilateral distalization with the zygoma-gear appliance and fixed appliances, Class I molar and canine relationships were established with satisfactory interdigitation of the posterior teeth. Acceptable overjet and overbite were also achieved. This article shows that this new system, the zygoma-gear appliance, can be used for unilateral maxillary molar distalization without anchorage loss. Copyright © 2012 American Association of Orthodontists. Published by Mosby, Inc. All rights reserved.

Spinal Muscular Atrophy FAQ

Science.gov (United States)

... as ALS (Lou Gehrig’s Disease), cystic fibrosis and Duchenne muscular dystrophy. Approximately 1 in 50 Americans, or about 6 ... Pediatric Neuromuscular Clinical Research Network ( PNCR ) and the Muscular ... is the SMN2 gene? Muscle weakness and atrophy in SMA results from the ...

Genetics Home Reference: Fukuyama congenital muscular dystrophy

Science.gov (United States)

... with mental retardation Muscular dystrophy, congenital, Fukuyama type Muscular dystrophy, congenital, with central nervous system involvement Polymicrogyria with muscular dystrophy Related Information How ...

Intellectual Ability in the Duchenne Muscular Dystrophy and Dystrophin Gene Mutation Location

Directory of Open Access Journals (Sweden)

Rasic Milic V.

2014-12-01

Full Text Available Duchenne muscular dystrophy (DMD is the most common form of muscular dystrophy during childhood. Mutations in dystrophin (DMD gene are also recognized as a cause of cognitive impairment. We aimed to determine the association between intelligence level and mutation location in DMD genes in Serbian patients with DMD. Forty-one male patients with DMD, aged 3 to 16 years, were recruited at the Clinic for Neurology and Psychiatry for Children and Youth in Belgrade, Serbia. All patients had defined DMD gene deletions or duplications [multiplex ligation- dependent probe amplification (MLPA, polymerase chain reaction (PCR] and cognitive status assessment (Wechsler Intelligence Scale for Children, Brunet-Lezine scale, Vineland-Doll scale. In 37 patients with an estimated full scale intelligence quotient (FSIQ, six (16.22% had borderline intelligence (70distal mutations when boundaries were set at exons 30 and 45. However, FSIQ was statistically significantly associated with mutation location when we assumed their functional consequence on dystrophin isoforms and when mutations in the 5’-untranslated region (5’UTR of Dp140 (exons 45-50 were assigned to affect only Dp427 and Dp260. Mutations affecting Dp140 and Dp71/Dp40 have been associated with more frequent and more severe cognitive impairment. Finally, the same classification of mutations explained the greater proportion of FSIQ variability associated with cumulative loss of dystrophin isoforms. In conclusion, cumulative loss of dystrophin isoforms increases the risk of intellectual impairment in DMD and characterizing the genotype can define necessity of early cognitive interventions in DMD patients.

Duplication of 7q36.3 encompassing the Sonic Hedgehog (SHH) gene is associated with congenital muscular hypertrophy

DEFF Research Database (Denmark)

Kristensen, Lone Krøldrup; Kjaergaard, S; Kirchhoff, Marianne

2012-01-01

with muscular hypertrophy and mildly retarded psychomotor development. Array-CGH identified a small duplication of 7q36.3 including the Sonic Hedgehog (SHH) gene in both the aborted foetus and the live born male sib. Neither of the parents carried the 7q36.3 duplication. The consequences of overexpression...

Distrofia muscular de Emery-Dreifuss: relato de caso Emery-Dreifuss muscular dystrophy: case report

Directory of Open Access Journals (Sweden)

Ana Lucila Moreira Carsten

2006-06-01

Full Text Available A distrofia muscular de Emery-Dreifuss é uma forma de distrofia muscular freqüentemente associada a contraturas articulares e defeitos de condução cardíaca, que pode ser causada pela deficiência da proteína emerina na membrana nuclear interna das fibras musculares. Descrevemos o caso de um homem de 19 anos com diminuição de força muscular, hipotrofia nas cinturas escapular e pélvica, disfagia, contraturas articulares em cotovelos e tornozelos, apresentando história familiar compatível com herança ligada ao cromossomo X. A investigação mostrou creatinaquinase sérica elevada, eletrocardiograma com bloqueio atrioventricular de primeiro grau e bloqueio de ramo direito, eletroneuromiografia normal, biópsia muscular com alterações miopáticas e a análise por imuno-histoquímica mostrou deficiência de emerina. São discutidas as manifestações clínicas e genéticas, alterações laboratoriais e eletroneuromiográficas, bem como, a importância do estudo do padrão de herança no aconselhamento genético destas famílias.The Emery-Dreifuss muscular dystrophy is a form of muscular dystrophy that frequently presents early contractures and cardiac conduction defects, caused by emerin deficiency in the inner nuclear membrane of the muscular fibers. A 19-years-old man it presented muscle weakness and hypotrophy in the proximal upper and lower limbs, dysphagia and early contractures in elbows and ankles, with familiar history compatible with X-linked inheritance form. The investigation showed increased serum creatinekinase levels electrocardiogram had a first degree atrioventricular block and right bundle branch block normal electromyography and nerve conduction study muscle biopsy disclosed myopathic characteristics and nuclear protein immunohystochemical analysis showed deficiency of emerin. The clinical and genetics manifestations, laboratorial and electromyography changes, as well as, the study of the pattern of inheritance for

The Effect of Aging on Muscular Dynamics Underlying Movement Patterns Changes.

Science.gov (United States)

Vernooij, Carlijn A; Rao, Guillaume; Berton, Eric; Retornaz, Frédérique; Temprado, Jean-Jacques

2016-01-01

Introduction: Aging leads to alterations not only within the complex subsystems of the neuro-musculo-skeletal system, but also in the coupling between them. Here, we studied how aging affects functional reorganizations that occur both within and between the behavioral and muscular levels, which must be coordinated to produce goal-directed movements. Using unimanual reciprocal Fitts' task, we examined the behavioral and muscular dynamics of older adults (74.4 ± 3.7 years) and compared them to those found for younger adults (23.2 ± 2.0 years). Methods: To achieve this objective, we manipulated the target size to trigger a phase transition in the behavioral regime and searched for concomitant signatures of a phase transition in the muscular coordination. Here, muscular coordination was derived by using the method of muscular synergy extraction. With this technique, we obtained functional muscular patterns through non-negative matrix factorization of the muscular signals followed by clustering the resulting synergies. Results: Older adults showed a phase transition in behavioral regime, although, in contrast to young participants, their kinematic profiles did not show a discontinuity. In parallel, muscular coordination displayed two typical signatures of a phase transition, that is, increased variability of coordination patterns and a reorganization of muscular synergies. Both signatures confirmed the existence of muscular reorganization in older adults, which is coupled with change in dynamical regime at behavioral level. However, relative to young adults, transition occurred at lower index of difficulty (ID) in older participants and the reorganization of muscular patterns lasted longer (over multiple IDs). Discussion: This implies that consistent changes occur in coordination processes across behavior and muscle. Furthermore, the repertoire of muscular patterns was reduced and somewhat modified for older adults, relative to young participants. This suggests that

Relaci??n entre la masa muscular, la densidad mineral ??sea, la fuerza muscular, la aptitud funcional y la calidad muscular en personas mayores

OpenAIRE

Pati??o Villada, Fredy Alonso

2015-01-01

294 p. La tesis pretende determinar la frecuencia de la sarcopenia y osteporosis , problemas que afectan a la salud de las personas mayores, y analizar la relaci??n entre la masa muscular, la densidad mineral ??sea (DMO), la fuerza muscular, la aptitud funcional y la calidad muscular (CM). La muestra estudiada fue la formada por un grupo de 83 hombres y 175 mujeres mayores de Le??n (Espa??a). El estudio transversal eval??a ??ndices de masa grasa y densidad mineral ??sea y niveles d...

Para-muscular and trans-muscular approaches to the lumbar inter-vertebral foramen: an anatomical comparison.

Science.gov (United States)

Poetscher, Arthur Werner; Ribas, Guilherme Carvalhal; Yasuda, Alexandre; Nishikuni, Koshiro

2005-03-01

Foraminal and extra-foraminal disc herniations comprise up to 11.7% of all lumbar disc herniations. Facetectomy, which had been the classic approach, is now recognized as cause of pain and instability after surgery. Otherwise, posterior lateral approaches through a trans-muscular or a para-muscular technique offer no significant damage to key structures for spinal stability. The surgical anatomy of these approaches has already been described, but they were not compared. In order to quantify the angle of vision towards the intervertebral foramen offered by each technique, 12 fresh cadavers were dissected and studied regarding these approaches. The angle presented by trans-muscular approach was wider in all studied lumbar levels. Surgery through the trans-muscular approach is performed with a better working angle, requiring a smaller resection of surrounding tissues. Therefore, minor surgical trauma can be expected. Our measurements support previously published data that point the trans-muscular approach as the best surgical option.

Orocaecal transit time in Duchenne muscular dystrophy.

OpenAIRE

Korman, S H; Bar-Oz, B; Granot, E; Meyer, S

1991-01-01

Smooth muscle degeneration may occur in Duchenne muscular dystrophy. We measured fasting orocaecal transit time in patients with advanced Duchenne muscular dystrophy and other muscular dystrophies and in healthy controls. No significant differences were found. In contrast to reports of gastric hypomotility in Duchenne muscular dystrophy, we found no evidence of impaired small intestinal motility.

Life-threatening Arrhythmias in a Becker Muscular Dystrophy Family due to the Duplication of Exons 3-4 of the Dystrophin Gene.

Science.gov (United States)

Ishizaki, Masatoshi; Fujimoto, Akiko; Ueyama, Hidetsugu; Nishida, Yasuto; Imamura, Shigehiro; Uchino, Makoto; Ando, Yukio

2015-01-01

We herein present a report of three patients with Becker muscular dystrophy in the same family who developed complete atrioventricular block or ventricular tachycardia with severe cardiomyopathy. Our cases became unable to walk in their teens, and were introduced to mechanical ventilation due to respiratory muscle weakness in their twenties and thirties. In all three cases, a medical device such as a permanent cardiac pacemaker or an implantable cardiac defibrillator was considered to be necessary. The duplication of exons 3-4 in the dystrophin gene was detected in two of the patients. In patients with Becker muscular dystrophy, complete atrioventricular block or ventricular tachycardia within a family has rarely been reported. Thus attention should be paid to the possibility of severe arrhythmias in the severe phenotype of Becker muscular dystrophy.

A FUNCTIONAL EVALUATION STUDY OF DISTAL FEMORAL FRACTURES FIXED WITH DISTAL FEMORAL LOCKING PLATE

Directory of Open Access Journals (Sweden)

Manikumar C. J

2017-04-01

Full Text Available BACKGROUND Fractures of the distal femur present considerable challenges in management. Older patients especially women sustain fractures due to osteoporosis. Supracondylar fractures of femur have a bimodal distribution. They account for 6% of all femur fractures and 31% if hip fractures were excluded. Nearly, 50% of distal femur intra-articular fractures are open fractures. Before 1970, most supracondylar fractures were treated nonoperatively; however, difficulties were often encountered including persistent angulatory deformity, knee joint incongruity, loss of knee motion and delayed mobilisation. The trend of open reduction and internal fixation has become evident in recent years with good results being obtained with AO blade plate, dynamic condylar screw, intramedullary supracondylar nail and locking compression plate. Elderly patients and osteoporosis pose difficulty in treating intra-articular fractures of the lower end of femur. Loss of stable fixation is of great concern in these cases. Hence, locking compression plate use has an advantage in these patients. MATERIALS AND METHODS In this study, 20 patients with closed fracture of distal femur were studied. All the cases were treated at the Department of Orthopaedics, Rangaraya Medical College/Government General Hospital, Kakinada, Andhra Pradesh, between November 2013 and November 2015. The method used for fracture fixation was open reduction and internal fixation with distal femoral locking plate. The duration of follow up ranged from 3 months to 24 months. All the fractures in this series were posttraumatic. The patients were functionally evaluated with Neer’s scoring system. 1 RESULTS Twenty distal femoral fractures were treated with distal femoral locking plates. 15 patients were males and 5 patients were females. The median age was 47 years ranging from 28-70 years. 16 of the fractures were caused by road traffic accidents and 2 were due to fall, 2 were due to assault. 12 patients

Changes to the geometry and fluid mechanics of the carotid siphon in the pediatric Moyamoya disease.

Science.gov (United States)

Jamil, Muhammad; Tan, Germaine Xin Yi; Huq, Mehnaz; Kang, Heidi; Lee, Zhi Rui; Tang, Phua Hwee; Hu, Xi Hong; Yap, Choon Hwai

2016-12-01

The Moyamoya disease is a cerebrovascular disease that causes occlusion of the distal end of the internal carotid artery, leading to the formation of multiple tiny collateral arteries. To date, the pathogenesis of Moyamoya is unknown. Improved understanding of the changes to vascular geometry and fluid mechanics of the carotid siphon during disease may improve understanding of the pathogenesis, prognosis techniques and disease management. A retrospective analysis of Magnetic Resonance Angiography (MRA) images was performed for Moyamoya pediatric patients (MMD) (n = 23) and control (Ctrl) pediatric patients (n = 20). The Ctrl group was composed of patients who complained of headache and had normal MRA. We performed segmentation of MRA images to quantify geometric parameters of the artery. Computational fluid dynamics (CFD) was performed to quantify the hemodynamic parameters. MMD internal carotid and carotid siphons were smaller in cross-sectional areas, and shorter in curved vascular length. Vascular curvature remained constant over age and vascular size and did not change between Ctrl and MMD, but MMD carotid siphon had lower tortuosity in the posterior bend, and higher torsion in the anterior bend. Wall shear stress and secondary flows were significantly lower in MMD, but the ratio of secondary flow kinetic energy to primary flow kinetic energy were similar between MMD and Ctrl. There were alterations to both the geometry and the flow mechanics of the carotid siphons of Moyamoya patients but it is unclear whether hemodynamics is the cause or the effect of morphological changes observed.

Mechanism of distal radius fracture as analyzed by 3D finite element model

International Nuclear Information System (INIS)

Tomizawa, Kazuo

2007-01-01

The purpose of this study is to see the difference of distal radius fracture between normal and osteoporotic bones and in its patterns due to limb position at injury through simulation and analysis of the biomechanics using three-dimensional (3D) finite element model. CT images were taken with SIEMENS machine, of right wrist joints of 32 and 76 years old, normal healthy man and osteoporotic woman, respectively. The wrist joint angles at CT were 70 degrees both at dorsiflexion and at palmerflexion for simulating fracture at tumbling down. The 3D bone model reconstructed from CT images with Forge software (Studio PON) was trimmed to remain the distal radial-ulnar portion and proximal carpal bones to make simulation easer, and the simplified 3D model was divided to 56,622 elements and 13,274 nodal points (normal bone) or 51,760 and 12,940 (osteoporosis), respectively, in 3 areas of different bone densities calculated with Scion Image processor. This 3D finite element model was analyzed with the software ANSYS LS-DYNA 10.0 for simulating the fracture (the defined yield stress attained) by impacting the elements of carpal bones to the radial bone joint surface with a measure of Mises stress. In osteoporotic bone, fracture was found to occur at dorsal cortex closer to the joint surface. Fracture occurred at dorsal and palmer cortex at dorsiflexion and palmerflexion, respectively. (R.T.)

The 1-way on-line coupled atmospheric chemistry model system MECO(n – Part 2: On-line coupling with the Multi-Model-Driver (MMD

Directory of Open Access Journals (Sweden)

A. Kerkweg

2012-01-01

Full Text Available A new, highly flexible model system for the seamless dynamical down-scaling of meteorological and chemical processes from the global to the meso-γ scale is presented. A global model and a cascade of an arbitrary number of limited-area model instances run concurrently in the same parallel environment, in which the coarser grained instances provide the boundary data for the finer grained instances. Thus, disk-space intensive and time consuming intermediate and pre-processing steps are entirely avoided and the time interpolation errors of common off-line nesting approaches are minimised. More specifically, the regional model COSMO of the German Weather Service (DWD is nested on-line into the atmospheric general circulation model ECHAM5 within the Modular Earth Submodel System (MESSy framework. ECHAM5 and COSMO have previously been equipped with the MESSy infrastructure, implying that the same process formulations (MESSy submodels are available for both models. This guarantees the highest degree of achievable consistency, between both, the meteorological and chemical conditions at the domain boundaries of the nested limited-area model, and between the process formulations on all scales.

The on-line nesting of the different models is established by a client-server approach with the newly developed Multi-Model-Driver (MMD, an additional component of the MESSy infrastructure. With MMD an arbitrary number of model instances can be run concurrently within the same message passing interface (MPI environment, the respective coarser model (either global or regional is the server for the nested finer (regional client model, i.e. it provides the data required to calculate the initial and boundary fields to the client model. On-line nesting means that the coupled (client-server models exchange their data via the computer memory, in contrast to the data exchange via files on disk in common off-line nesting approaches. MMD consists of a library

Comparison of 7.0- and 3.0-T MRI and MRA in ischemic-type moyamoya disease: preliminary experience.

Science.gov (United States)

Deng, Xiaofeng; Zhang, Zihao; Zhang, Yan; Zhang, Dong; Wang, Rong; Ye, Xun; Xu, Long; Wang, Bo; Wang, Kai; Zhao, Jizong

2016-06-01

OBJECT The authors compared the image quality and diagnostic sensitivity and specificity of 7.0-T and 3.0-T MRI and time-of-flight (TOF) MR angiography (MRA) in patients with moyamoya disease (MMD). METHODS MR images of 15 patients with ischemic-type MMD (8 males, 7 females; age 13-48 years) and 13 healthy controls (7 males, 6 females; age 19-28 years) who underwent both 7.0-T and 3.0-T MRI and MRA were studied retrospectively. The main intracranial arteries were assessed by using the modified Houkin's grading system (MRA score). Moyamoya vessels (MMVs) were evaluated by 2 grading systems: the MMV quality score and the MMV area score. Two diagnostic criteria for MMD were used: the T2 criteria, which used flow voids in the basal ganglion on T2-weighted images, and the TOF criteria, which used the high-intensity areas in the basal ganglion on source images from TOF MRA. All data were evaluated by 2 independent readers who were blinded to the strength field and presence or absence of MMD. Using conventional angiography as the gold standard, the sensitivity and specificity of 7.0-T and 3.0-T MRI/MRA in the diagnosis of MMD were calculated. The differences between 7.0-T and 3.0-T MRI and MRA were statistically compared. RESULTS No significant differences were observed between 7.0-T and 3.0-T MRA in MRA score (p = 0.317) or MRA grade (p = 0.317). There was a strong correlation between the Suzuki's stage and MRA grade in both 3.0-T (rs = 0.930; p 3.0-T MRA, suggested by both the MMV quality score (p = 0.001) and the MMV area score (p = 0.001). The correlation between the Suzuki's stage and the MMV area score was moderate in 3.0-T MRA (rs = 0.738; p = 0.002) and strong in 7.0-T MRA (rs = 0.908; p 3.0-T MRI/MRA (sensitivity 0.692; specificity 0.933) in diagnosing MMD; based on the TOF criteria, 7.0-T MRI/MRA was more sensitive (1.000 vs 0.733, respectively) and more specific (1.000 vs 0.923, respectively) than 3.0-T MRI/MRA. CONCLUSIONS Compared with 3.0-T MRI/MRA, 7.0-T

Consequences of a novel caveolin-3 mutation in a large German family.

Science.gov (United States)

Fischer, Dirk; Schroers, Anja; Blümcke, Ingmar; Urbach, Horst; Zerres, Klaus; Mortier, Wilhelm; Vorgerd, Matthias; Schröder, Rolf

2003-02-01

Mutations in the human caveolin-3 gene (cav-3) on chromosome 3p25 have been described in limb girdle muscular dystrophy, rippling muscle disease, hyperCKemia, and distal myopathy. Here, we describe the genetic, myopathological, and clinical findings in a large German family harboring a novel heterozygous mutation (GAC-->GAA) in codon 27 of the cav-3 gene. This missense mutation causes an amino acid change from asparagine to glutamate (Asp27Glu) in the N-terminal region of the Cav-3 protein, which leads to a drastic decrease of Cav-3 protein expression in skeletal muscle tissue. In keeping with an autosomal dominant mode of inheritance, this novel cav-3 mutation was found to cosegregate with neuromuscular involvement in the reported family. Ultrastructural analysis of Cav-3-deficient muscle showed an abnormal folding of the plasma membrane as well as multiple vesicular structures in the subsarcolemmal region. Neurological examination of all nine subjects from three generations harboring the novel cav-3 mutation showed clear evidence of rippling muscle disease. However, only two of these nine patients showed isolated signs of rippling muscle disease without muscle weakness or atrophy, whereas five had additional signs of a distal myopathy and two fulfilled the diagnostic criteria of a coexisting limb girdle muscular dystrophy. These findings indicate that mutations in the human cav-3 gene can lead to different and overlapping clinical phenotypes even within the same family. Different clinical phenotypes in caveolinopathies may be attributed to so far unidentified modifying factors/genes in the individual genetic background of affected patients.

Dismorfia muscular Muscle dysmorphia

Directory of Open Access Journals (Sweden)

Sheila Seleri Marques Assunção

2002-12-01

Full Text Available Preocupações mórbidas com a imagem corporal eram tidas até recentemente como problemas eminentemente femininos. Atualmente estas preocupações também têm sido encontradas no sexo masculino. A dismorfia muscular é um subtipo do transtorno dismórfico corporal que ocorre principalmente em homens que, apesar da grande hipertrofia muscular, consideram-se pequenos e fracos. Além de estar associada a prejuízos sociais, ocupacionais, recreativos e em outras áreas do funcionamento do indivíduo, a dismorfia muscular é também um fator de risco para o abuso de esteróides anabolizantes. Este artigo aborda aspectos epidemiológicos, etiológicos e padrões clínicos da dismorfia muscular, além de tecer comentários sobre estratégias de tratamento para este transtorno.Morbid concern over body image was considered, until recently, a female issue. Nowadays, it has been viewed as a common male disorder. Muscle dysmorphia, a subtype of a body dysmorphic disorder, affects men who, despite having clear muscular hypertroph,y see themselves as frail and small. Besides being associated to major social, leisure and occupational dysfunction, muscle dysmorphia is also a risk factor for the abuse of steroids. This article describes epidemiological, etiological and clinical characteristics of muscle dysmorphia and comments on its treatment strategy.

TRIM32 ubiquitin E3 ligase, one enzyme for several pathologies: From muscular dystrophy to tumours.

Science.gov (United States)

Lazzari, Elisa; Meroni, Germana

2016-10-01

TRIM32 is a member of the TRIpartite Motif family characterised by the presence of an N-terminal three-domain-module that includes a RING domain, which confers E3 ubiquitin ligase activity, one or two B-box domains and a Coiled-Coil region that mediates oligomerisation. Several TRIM32 substrates were identified including muscular proteins and proteins involved in cell cycle regulation and cell motility. As ubiquitination is a versatile post-translational modification that can affect target turnover, sub-cellular localisation or activity, it is likely that diverse substrates may be differentially affected by TRIM32-mediated ubiquitination, reflecting its multi-faceted roles in muscle physiology, cancer and immunity. With particular relevance for muscle physiology, mutations in TRIM32 are associated with autosomal recessive Limb-Girdle Muscular Dystrophy 2H, a muscle-wasting disease with variable clinical spectrum ranging from almost asymptomatic to wheelchair-bound patients. In this review, we will focus on the ability of TRIM32 to mark specific substrates for proteasomal degradation discussing how the TRIM32-proteasome axis may (i) be important for muscle homeostasis and for the pathogenesis of muscular dystrophy; and (ii) define either an oncogenic or tumour suppressive role for TRIM32 in the context of different types of cancer. Copyright © 2016 Elsevier Ltd. All rights reserved.

A study of atriphos (ATP) action on muscular circulation in progressive muscular dystrophy by the radioactive xenon clearance technique

International Nuclear Information System (INIS)

Chakyrov, B.; Samardzhiev, A.

1977-01-01

The effect of intramuscularly and intravenously adminostered atriphos on the muscular circulation was studied with radioactive xenon in 12 children with progressive muscular dystrophy. After combined local intramuscular injection of ATP (atriphos) with the radioactive marker a 12-fold increment of muscular circulation ensues, lasting about 15 minutes. No vasodilatating effect on the muscular flow was oberved after intravenous injection of 20-40 mg of atriphos. It is believed that intramuscular administration of atriphos produced dilatation of capillaries and of the venous part of the muscular circulation. (author)

A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles.

Science.gov (United States)

Chen, J; Hong, D; Wang, Z; Yuan, Y

2010-01-01

Neutral lipid storage disease with myopathy (NLSDM) is a type of lipid storage myopathy arising due to a mutation in the PNPLA2 gene encoding an adipose triglyceride lipase responsible for the degradation of intracellular triglycerides. Herein, we report the cases of two siblings manifesting slowly progressive proximal and distal limb weakness in adulthood. One of the patients had dilated cardiomyopathy, hearing loss and short stature. Muscle specimens of the 2 patients revealed muscular dystrophic features with massive lipid droplets and numerous rimmed vacuoles in the fibers. A novel homozygous mutation IVS2+1G > A in the PNPLA2 gene was identified in the 2 cases, but not in the healthy familial individuals. The presence of massive lipid droplets with muscular dystrophic changes and rimmed vacuoles in muscle fibers might be one of the characteristic pathological changes of NLSDM.

Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach Distrofias musculares de cinturas: uma abordagem diagnóstica imuno-histoquímica

Directory of Open Access Journals (Sweden)

Enio Alberto Comerlato

2005-06-01

Full Text Available The limb-girdle muscle dystrophy (LGMD represents a heterogeneous group of muscular diseases with dominant and recessive inheritance, individualized by gene mutation. A group of 56 patients, 32 males and 24 females, with suggestive LGMD diagnosis were submitted to clinical evaluation, serum muscle enzymes, electromyography, muscle biopsy, and the immunoidentification (ID of sarcoglycans (SG alpha, beta, gamma and delta, dysferlin and western blot for calpain-3. All the patients had normal ID for dystrophin (rod domain, carboxyl and amine terminal. The alpha-SG was normal in 42 patients, beta-SG in 28, beta-SG in 45, delta-SG in 32, dysferlin in 37 and calpain-3 in 9. There was a reduction in the alpha-SG in 7 patients, beta-SG in 4, gamma-SG in 2, and delta-SG in 8. There was deficiency of alpha-SG in 7 patients, beta-SG in 6, gamma-SG in 9, delta-SG in 5, dysferlin in 8, and calpain-3 in 5. The patients were grouped according the ID as sarcoglycans deficiency 18 cases, dysferlin deficiency 8 cases and calpain-3 deficiency 5 cases. Only the sarcoglycans deficiency group showed calf hypertrophy. The dysferlin deficiency group was more frequent in females and the onset was later than sarcoglycan and calpain-3 deficiency groups. The calpain-3 deficiency group occurred only in males and showed an earlier onset and weaker muscular strength.As distrofias musculares de cinturas (DMC representam grupo heterogêneo de doenças musculares com heranças autossômicas dominante ou recessivas, caracterizadas geneticamente por mutações gênicas específicas. Cinqüenta e seis pacientes, 32 masculinos e 24 femininos, com diagnóstico sugestivo de DMC, foram submetidos a avaliação clínica, dosagem séricas das enzimas musculares, eletromiografia, biópsia muscular e imunoidentificação (ID das proteínas sarcoglicanas (SG alfa, beta, gama e delta, disferlina e calpaína-3. A ID da distrofina (domínio rod e terminais carboxila e amino era normal em todos

Arthroplasty of the distal ulna distal in managing patients with post-traumatic disorders of the distal radioulnar joint: measurement of quality of life

Directory of Open Access Journals (Sweden)

Marcio Aurélio Aita

2015-12-01

Full Text Available ABSTRACT OBJECTIVE: To measure the quality of life and clinical-functional results from patients diagnosed with osteoarthrosis of the distal radioulnar joint who underwent surgical treatment using the technique of total arthroplasty of the ulna, with a total or partial Ascension(r prosthesis of the distal ulna. METHODS: Ten patients were evaluated after 12 months of follow-up subsequent to total or partial arthroplasty of the distal ulna. All of them presented post-traumatic osteoarthrosis and/or chronic symptomatic instability of the distal radioulnar joint. The study was prospective. Seven patients had previously undergone wrist procedures (two cases with Darrach, three with Sauvé-Kapandji and two with ligament reconstruction of the fibrocartilage complex and three presented fractures of the distal ulna that evolved with pain, instability and osteoarthrosis of the distal radioulnar joint. The following were assessed: quality of life (DASH scale; percentage degree of palm grip strength (kgf and pronosupination range of motion in relation to the unaffected side; pain (VAS; return to work; subjective evaluation of radiography; and complications. RESULTS: The patients presented a mean range of motion of 174.5° (normal side: 180°. Quality of life was analyzed by applying the DASH questionnaire and the mean value found was 5.9. The mean pain score using the VAS was 2.3. The mean degree of palm grip strength (kgf was 50.7, which represented 90.7% of the strength on the unaffected side. The complication rate was 10%: this patient presented slight dorsal instability of the ulna and persistent pain, and did not return to work. This patient is still being followed up in the outpatient clinic and occupational therapy sector, with little improvement. He does not wish to undergo a new procedure. The mean length of follow-up was 16.8 months, with a minimum of 10 and maximum of 36 months. CONCLUSION: This concept is subject to the test of time

A comparison of swallowing dysfunction in Becker muscular dystrophy and Duchenne muscular dystrophy.

Science.gov (United States)

Yamada, Yuka; Kawakami, Michiyuki; Wada, Ayako; Otsuka, Tomoyoshi; Muraoka, Kaori; Liu, Meigen

2018-06-01

Swallowing dysfunction has been reported in Duchenne muscular dystrophy (DMD), but has not been studied in Becker muscular dystrophy (BMD). The aims of this study were to report the characteristics of swallowing dysfunction in BMD compared with DMD. The study participants were 18 patients with BMD and 18 patients with DMD. All the patients were examined using videofluorography during swallowing of 5 mL of fluid. The penetration-aspiration scale (P-A scale) and the videofluorographic dysphagia scale (VDS) were used to evaluate dysphagia. Swinyard functional ability stage was not significantly different between the BMD and DMD groups. Rate of aspiration, P-A scale score, and total VDS score did not differ across groups, but the VDS item score for laryngeal elevation was lower in the BMD group than in the DMD group (median scores 4.5 and 9, respectively; p Becker muscular dystrophy (BMD) was not well known. Eighteen patients with BMD and 18 patients with Duchenne muscular dystrophy were examined with videofluorography. Patients with BMD have swallowing problems similar to those observed in patients with DMD.

Learning about Duchenne Muscular Dystrophy

Science.gov (United States)

... protein. Often these boys are classified as having Becker muscular dystrophy. Genetic testing (looking at the body's genetic instructions) ... National Library of Medicine Web site Duchenne and Becker muscular dystrophy [ghr.nlm.nih.gov] From Genetics Home Reference ...

Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy

Science.gov (United States)

Burch, Peter M.; Pogoryelova, Oksana; Goldstein, Richard; Bennett, Donald; Guglieri, Michela; Straub, Volker; Bushby, Kate; Lochmüller, Hanns; Morris, Carl

2015-01-01

Abstract Background: Identifying translatable, non-invasive biomarkers of muscular dystrophy that better reflect the disease pathology than those currently available would aid the development of new therapies, the monitoring of disease progression and the response to therapy. Objective: The goal of this study was to evaluate a panel of serum protein biomarkers with the potential to specifically detect skeletal muscle injury. Method: Serum concentrations of skeletal troponin I (sTnI), myosin light chain 3 (Myl3), fatty acid binding protein 3 (FABP3) and muscle-type creatine kinase (CKM) proteins were measured in 74 Duchenne muscular dystrophy (DMD), 38 Becker muscular dystrophy (BMD) and 49 Limb-girdle muscular dystrophy type 2B (LGMD2B) patients and 32 healthy controls. Results: All four proteins were significantly elevated in the serum of these three muscular dystrophy patient populations when compared to healthy controls, but, interestingly, displayed different profiles depending on the type of muscular dystrophy. Additionally, the effects of patient age, ambulatory status, cardiac function and treatment status on the serum concentrations of the proteins were investigated. Statistical analysis revealed correlations between the serum concentrations and certain clinical endpoints including forced vital capacity in DMD patients and the time to walk ten meters in LGMD2B patients. Serum concentrations of these proteins were also elevated in two preclinical models of muscular dystrophy, the mdx mouse and the golden-retriever muscular dystrophy dog. Conclusions: These proteins, therefore, are potential muscular dystrophy biomarkers for monitoring disease progression and therapeutic response in both preclinical and clinical studies. PMID:26870665

A lesão muscular na miastenia grave: estudo de 17 casos com histoquimica muscular

Directory of Open Access Journals (Sweden)

Lineu Cesar Werneck

1982-03-01

Full Text Available Estudo de 17 biópsias musculares de pacientes com miastenia grave, utilizando técnicas de coloração a fresco e histoquímica muscular. Foram encontradas 15 biópsias musculares anormais, sendo que as principais alterações foram fibras musculares angulares escuras atróficas, excesso de gotículas de gordura na membrana externa das fibras, variação no diâmetro das fibras e atrofia de fibras do tipo II. Os achados foram interpretados como denervação em 11 biópsias, atrofia de fibras do tipo II em 7, infiltrado linfocitário em 4, necrose de fibras musculares com fagocitose em 1 e em 2 biópsias não foi encontrada qualquer anormalidade. Quanto maior o tempo de doença, mais severa foi a anormalidade encontrada. Dois pacientes apresentavam timoma, um miastenia grave congênita, um artrite reumatoide, um neurite hipertrófica intersticial, um tireoidite de Hashimoto e um com síndrome miastênica concomitante. São discutidos os achados anatomopatológicos e sua possível explicação.

Effects of operative treatment for muscular asthenopia caused by esophoria

Directory of Open Access Journals (Sweden)

Tao Zeng

2016-05-01

Full Text Available AIM:To observe the effects of operative treatment for muscular asthenopia caused by esophoria. METHODS:Twenty-one cases(42 eyeswith muscular asthenopia caused by esophoria were included. After examination of refraction, phoria and fusion function, all cases were given operative treatment to correct esophoria. RESULTS:At 1wk after surgery, clinical symptoms were improved evidently in all cases, such as headache, diplopia and eye swelling. After followed up for 1a, no recrudescence was found. Before surgery, at 1wk and 1a after surgery, esophoria in the distance were 20.3△±6.3△,-3.1△±1.4△,0.7△±1.6△ respectively and esophoria in the near distance were 10.5△±3.1△,-1.3△±0.6△,1.5△±0.8△ respectively. By comparison of esophoria before and after surgery in different stages separately, the differences were statistically(PP>0.05. CONCLUSION:Esophoria operation may relieve obviously muscular asthenopia caused by esophoria without changing fusion function.

Reverse Distal Transverse Palmar Arch in Distal Digital Replantation.

Science.gov (United States)

Wei, Ching-Yueh; Orozco, Oscar; Vinagre, Gustavo; Shafarenko, Mark

2017-11-01

Refinements in microsurgery have made distal finger replantation an established technique with high success rates and good functional and aesthetic outcomes. However, it still represents a technically demanding procedure due to the small vessel caliber and frequent lack of vessel length, requiring the use of interpositional venous grafts in some instances. We describe a new technique for anastomosis in fingertip replantation, whereby the need for venous grafts is eliminated. Applying the reverse distal transverse palmar arch technique, 11 cases of distal digital replantation were performed between January 2011 and July 2016. The described procedure was used for arterial anastomosis in 10 cases and arteriovenous shunting for venous drainage in 1 case. A retrospective case review was conducted. The technical description and clinical outcome evaluations are presented. Ten of the 11 replanted digits survived, corresponding to an overall success rate of 91%. One replant failed due to venous insufficiency. Blood transfusions were not required for any of the patients. Follow-up (range, 1.5-5 months) revealed near-normal range of motion and good aesthetic results. All of the replanted digits developed protective sensation. The average length of hospital admission was 5 days. All patients were satisfied with the results and were able to return to their previous work. The use of the reverse distal transverse palmar arch is a novel and reliable technique in distal digital replantation when an increase in vessel length is required, allowing for a tension-free arterial repair without the need for vein grafts.

Mechanical evidence that flamingos can support their body on one leg with little active muscular force.

Science.gov (United States)

Chang, Young-Hui; Ting, Lena H

2017-05-01

Flamingos (Phoenicopteridae) often stand and sleep on one leg for long periods, but it is unknown how much active muscle contractile force they use for the mechanical demands of standing on one leg: body weight support and maintaining balance. First, we demonstrated that flamingo cadavers could passively support body weight on one leg without any muscle activity while adopting a stable, unchanging, joint posture resembling that seen in live flamingos. By contrast, the cadaveric flamingo could not be stably held in a two-legged pose, suggesting a greater necessity for active muscle force to stabilize two-legged versus one-legged postures. Our results suggest that flamingos engage a passively engaged gravitational stay apparatus (proximally located) for weight support during one-legged standing. Second, we discovered that live flamingos standing on one leg have markedly reduced body sway during quiescent versus alert behaviours, with the point of force application directly under the distal joint, reducing the need for muscular joint torque. Taken together, our results highlight the possibility that flamingos stand for long durations on one leg without exacting high muscular forces and, thus, with little energetic expenditure. © 2017 The Author(s).

Stem cell transplantation for treating Duchenne muscular dystrophy

Science.gov (United States)

Yang, Xiaofeng

2012-01-01

OBJECTIVE: To identify global research trends in stem cell transplantation for treating Duchenne muscular dystrophy using a bibliometric analysis of Web of Science. DATA RETRIEVAL: We performed a bibliometric analysis of studies on stem cell transplantation for treating Duchenne muscular dystrophy from 2002 to 2011 retrieved from Web of Science. SELECTION CRITERIA: Inclusion criteria: (a) peer-reviewed published articles on stem cell transplantation for treating Duchenne muscular dystrophy indexed in Web of Science; (b) original research articles, reviews, meeting abstracts, proceedings papers, book chapters, editorial material, and news items; and (c) publication between 2002 and 2011. Exclusion criteria: (a) articles that required manual searching or telephone access; (b) documents that were not published in the public domain; and (c) corrected papers. MAIN OUTCOME MEASURES: (1) Annual publication output; (2) distribution according to subject areas; (3) distribution according to journals; (4) distribution according to country; (5) distribution according to institution; (6) distribution according to institution in China; (7) distribution according to institution that cooperated with Chinese institutions; (8) top-cited articles from 2002 to 2006; (9) top-cited articles from 2007 to 2011. RESULTS: A total of 318 publications on stem cell transplantation for treating Duchenne muscular dystrophy were retrieved from Web of Science from 2002 to 2011, of which almost half derived from American authors and institutes. The number of publications has gradually increased over the past 10 years. Most papers appeared in journals with a focus on gene and molecular research, such as Molecular Therapy, Neuromuscular Disorders, and PLoS One. The 10 most-cited papers from 2002 to 2006 were mostly about different kinds of stem cell transplantation for muscle regeneration, while the 10 most-cited papers from 2007 to 2011 were mostly about new techniques of stem cell transplantation

CT findings of muscular dystrophy

International Nuclear Information System (INIS)

Saitoh, Hiroshi

1991-01-01

CT scans of muscles in patients with limb girdle type (LG), myotonic type (MYD) and Duchenne type (DMD) dystrophies were obtained at five different body levels: the neck, L3 vertebral body, pelvic girdle, thigh and lower leg. CT numbers, cross sectional areas (CSA) and %CSA of muscle or fat were evaluated in each muscle. The characteristic CT patterns for each type of muscular dystrophy were obtained. Compared with DMD, the gracilis and soleus were more severely damaged in LG and the biceps femoris remained relatively preserved among the hamstrings. In addition, the multifidus of the neck and sternocleidomastoid also were more severely damaged in MYD. This study suggests that CT scan will be useful in the differential diagnosis of these types of muscular dystrophy as well as in planning appropriate rehabilitation and detecting damaged muscles. (author)

Distal clavicular osteolysis: MR evidence for subchondral fracture

Energy Technology Data Exchange (ETDEWEB)

Kassarjian, Ara; Palmer, William E. [Massachusetts General Hospital, Department of Radiology, Division of Musculoskeletal Radiology, Yawkey Center, Boston, MA (United States); Llopis, Eva [Hospital de la Ribera, Department of Radiology, Valencia (Spain)

2007-01-15

To investigate the association between distal clavicular osteolysis and subchondral fractures of the distal clavicle at MRI. This study was approved by the hospital human research committee, which waived the need for informed consent. Three radiologists retrospectively analyzed 36 shoulder MR examinations in 36 patients with imaging findings of distal clavicular osteolysis. The presence of a subchondral fracture of the distal clavicle, abnormalities of the acromioclavicular joint, rotator cuff tears and labral tears were assessed by MRI. These cases were then compared with 36 age-matched controls. At MRI, 31 of 36 patients (86%) had a subchondral line within the distal clavicular edema, consistent with a subchondral fracture. Of the 36 patients, 32 (89%) had fluid in the acromioclavicular joint, while 27 of 36 patients (75%) had cysts or erosions in the distal clavicle. There were 13 patients (36%) with associated labral tears, while eight patients (22%) had partial-thickness rotator cuff tears. In the control group one of 36 (3%) had a subchondral line (P<0.05), while ten of 36 (28%) had rotator cuff tears and 13 of 36 (36%) had labral tears. These latter two were not statistically significant between the groups. A distal clavicular subchondral fracture is a common finding in patients with imaging evidence of distal clavicular osteolysis. These subchondral fractures may be responsible for the propensity of findings occurring on the clavicular side of the acromioclavicular joint. (orig.)

Distal clavicular osteolysis: MR evidence for subchondral fracture

International Nuclear Information System (INIS)

Kassarjian, Ara; Palmer, William E.; Llopis, Eva

2007-01-01

To investigate the association between distal clavicular osteolysis and subchondral fractures of the distal clavicle at MRI. This study was approved by the hospital human research committee, which waived the need for informed consent. Three radiologists retrospectively analyzed 36 shoulder MR examinations in 36 patients with imaging findings of distal clavicular osteolysis. The presence of a subchondral fracture of the distal clavicle, abnormalities of the acromioclavicular joint, rotator cuff tears and labral tears were assessed by MRI. These cases were then compared with 36 age-matched controls. At MRI, 31 of 36 patients (86%) had a subchondral line within the distal clavicular edema, consistent with a subchondral fracture. Of the 36 patients, 32 (89%) had fluid in the acromioclavicular joint, while 27 of 36 patients (75%) had cysts or erosions in the distal clavicle. There were 13 patients (36%) with associated labral tears, while eight patients (22%) had partial-thickness rotator cuff tears. In the control group one of 36 (3%) had a subchondral line (P<0.05), while ten of 36 (28%) had rotator cuff tears and 13 of 36 (36%) had labral tears. These latter two were not statistically significant between the groups. A distal clavicular subchondral fracture is a common finding in patients with imaging evidence of distal clavicular osteolysis. These subchondral fractures may be responsible for the propensity of findings occurring on the clavicular side of the acromioclavicular joint. (orig.)

Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy

DEFF Research Database (Denmark)

Sveen, Marie-Louise; Thune, Jens Jakob; Køber, Lars

2008-01-01

OBJECTIVE: To investigate the extent of cardiac involvement in patients with 1 of the 12 groups of recessively inherited limb-girdle muscular dystrophy type 2 (LGMD2A-L) and Becker muscular dystrophy (BMD). DESIGN: Prospective screening. SETTING: Neuromuscular Clinic and Department of Cardiology...

Muscular dystrophy

Science.gov (United States)

... are no known cures for the various muscular dystrophies. The goal of treatment is to control symptoms. Physical therapy may help maintain muscle strength and function. Leg braces and a wheelchair ...

[Distal clavicle fracture].

Science.gov (United States)

Seppel, G; Lenich, A; Imhoff, A B

2014-06-01

Reposition and fixation of unstable distal clavicle fractures with a low profile locking plate (Acumed, Hempshire, UK) in conjunction with a button/suture augmentation cerclage (DogBone/FibreTape, Arthrex, Naples, FL, USA). Unstable fractures of the distal clavicle (Jäger and Breitner IIA) in adults. Unstable fractures of the distal clavicle (Jäger and Breitner IV) in children. Distal clavicle fractures (Jäger and Breitner I, IIB or III) with marked dislocation, injury of nerves and vessels, or high functional demand. Patients in poor general condition. Fractures of the distal clavicle (Jäger and Breitner I, IIB or III) without marked dislocation or vertical instability. Local soft-tissue infection. Combination procedure: Initially the lateral part of the clavicle is exposed by a 4 cm skin incision. After reduction of the fracture, stabilization is performed with a low profile locking distal clavicle plate. Using a special guiding device, a transclavicular-transcoracoidal hole is drilled under arthroscopic view. Additional vertical stabilization is arthroscopically achieved by shuttling the DogBone/FibreTape cerclage from the lateral portal cranially through the clavicular plate. The two ends of the FibreTape cerclage are brought cranially via adjacent holes of the locking plate while the DogBone button is placed under the coracoid process. Thus, plate bridging is achieved. Finally reduction is performed and the cerclage is secured by surgical knotting. Use of an arm sling for 6 weeks. Due to the fact that the described technique is a relatively new procedure, long-term results are lacking. In the short term, patients postoperatively report high subjective satisfaction without persistent pain.

Combined application of neutrophin-3 gene and neural stem cells is ameliorative to delay of denervated skeletal muscular atrophy after tibial nerve transection in rats.

Science.gov (United States)

Lin, Sen; Xu, Jianguang; Hu, Shaonan; Xu, Lei; Zhang, Changqing; Wang, Yang; Gu, Yudong

2011-01-01

Examination of the therapeutic efficacy of neural stem cells (NSCs) has recently become the focus of much investigation. In this study we present an insight of the effects of combined application with neurotrophin-3 (NT-3) and NSCs that derived from rat embryo spinal cord on delaying denervated skeletal muscular atrophy after tibial nerve was severed. NT-3 gene was amplified by PCR and subcloned into lentiviral vector pWPXL-MOD to construct a lentiviral expression vector pWPXL-MOD-NT-3. A positive clone expressing NT-3 (named NSCs-NT-3) was obtained and used for differentiation in vitro and transplantation. Sixty adult rats, whose tibial nerves were sectioned, were divided into two groups: one grafted with NSCs-NT-3 (experimental group, n = 30) and the other with NSCs transfected by pWPXL-MOD (control group, n = 30). The cell survival and differentiation, NT-3 gene expression, and effect of delaying denervated skeletal muscular atrophy were examined through immunohistostaining, RT-PCR, Western blot, electrophysiological analysis, and mean cross-sectional area (CSA) of gastrocnemius, respectively. The results show that the NT-3 gene, which is comprised of 777 bp, was cloned and significantly different expression were detected between NSCs and NSCs-NT-3 in vitro. Quantitative analysis of the choline acetyltransferase (ChAT) immunopositive cells revealed a significant increase in experimental group compared to the control group 4 weeks after implantation (p ChAT immunopositive cells were detected near the engrafted region only in experimental group. Furthermore, the effect in delaying denervated skeletal muscular atrophy is indicated in the EMG examination and mean CSA of gastrocnemius. These findings suggest that the neural stem cells expressing NT-3 endogenously would be a better graft candidate for the delay of denervated skeletal muscular atrophy.

Duchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach Distrofia muscular de Duchenne e Becker: abordagem molecular e imuno-histoquímica

Directory of Open Access Journals (Sweden)

Aline Andrade Freund

2007-03-01

Full Text Available Duchenne muscular dystrophy (DMD and Becker muscular dystrophy (BMD are caused by mutations in the dystrophin gene. We studied 106 patients with a diagnosis of probable DMD/BMD by analyzing 20 exons of the dystrophin gene in their blood and, in some of the cases, by immunohistochemical assays for dystrophin in muscle biopsies. In 71.7% of the patients, deletions were found in at least one of the exons; 68% of these deletions were in the hot-spot 3' region. Deletions were found in 81.5% of the DMD cases and in all the BMD cases. The cases without deletions, which included the only woman in the study with DMD, had dystrophin deficiency. The symptomatic female carriers had no deletions but had abnormal dystrophin distribution in the sarcolemma (discontinuous immunostains. The following diagnoses were made for the remaining cases without deletions with the aid of a muscle biopsy: spinal muscular atrophy, congenital myopathy; sarcoglycan deficiency and unclassified limb-girdle muscular dystrophy. Dystrophin analysis by immunohistochemistry continues to be the most specific method for diagnosis of DMD/BMD and should be used when no exon deletions are found in the dystrophin gene in the blood.As distrofias musculares de Duchenne (DMD e de Becker (DMB são doenças causadas por mutação no gene da distrofina. Foram estudados 106 casos com a suspeita diagnóstica de DMD/BMD com a analise de 20 exons do gene da distrofina no sangue e biópsia muscular com imuno-histoquímica para distrofina em alguns casos. Em 71,7% dos casos foi encontrada deleção em pelo menos um dos exons, sendo que 68% das deleções localizam-se na região 3' hot spot. Foram encontradas deleções em 81,5% dos DMD e em todos os BMD, sendo que os sem deleção tinham deficiência de distrofina, incluindo a mulher com DMD. As portadoras sintomáticas não tinham deleções mas anormalidades na distribuição da distrofina no sarcolema. Os outros casos sem deleção, com auxilio da

Non-uniform muscle fat replacement along the proximodistal axis in Duchenne muscular dystrophy.

Science.gov (United States)

Hooijmans, M T; Niks, E H; Burakiewicz, J; Anastasopoulos, C; van den Berg, S I; van Zwet, E; Webb, A G; Verschuuren, J J G M; Kan, H E

2017-05-01

The progressive replacement of muscle tissue by fat in Duchenne muscular dystrophy (DMD) has been studied using quantitative MRI between, but not within, individual muscles. We studied fat replacement along the proximodistal muscle axis using the Dixon technique on a 3T MR scanner in 22 DMD patients and 12 healthy controls. Mean fat fractions per muscle per slice for seven lower and upper leg muscles were compared between and within groups assuming a parabolic distribution. Average fat fraction for a small central slice stack and a large coverage slice stack were compared to the value when the stack was shifted one slice (15 mm) up or down. Higher fat fractions were observed in distal and proximal muscle segments compared to the muscle belly in all muscles of the DMD subjects (p muscle end regions are exposed to higher mechanical strain, which points towards mechanical disruption of the sarcolemma as one of the key factors in the pathophysiology. Overall, this non-uniformity in fat replacement needs to be taken into account to prevent sample bias when applying quantitative MRI as biomarker in clinical trials for DMD. Copyright © 2017 Elsevier B.V. All rights reserved.

Genetics Home Reference: spinal muscular atrophy

Science.gov (United States)

... difficulty breathing. Children with this type often have joint deformities (contractures) that impair movement. In severe cases, ... Proximal spinal muscular atrophy Washington University, St. Louis: Neuromuscular Disease Center: Spinal Muscular Atrophy Patient Support and ...

One-stage lingual augmented urethroplasty in repair of distal penile ...

African Journals Online (AJOL)

E. Elsayed

Abstract. Objectives: To evaluate the outcome of augmentation of shallow urethral plate by lingual graft in repair of distal penile hypospadias. Patients and methods: Between June 2008 and May 2011, the procedure was performed on 23 patients with mean age 2.3 years (range 1–3). All patients had distal penile ...

Genetics Home Reference: Duchenne and Becker muscular dystrophy

Science.gov (United States)

... Conditions Duchenne and Becker muscular dystrophy Duchenne and Becker muscular dystrophy Printable PDF Open All Close All Enable Javascript ... dystrophy occur almost exclusively in males. Duchenne and Becker muscular dystrophies have similar signs and symptoms and are caused ...

Distal splenorenal shunt with partial spleen resection

Directory of Open Access Journals (Sweden)

Gajin Predrag

2007-01-01

Full Text Available Introduction: Hypersplenism is a common complication of portal hypertension. Cytopenia in hypersplenism is predominantly caused by splenomegaly. Distal splenorenal shunt (Warren with partial spleen resection is an original surgical technique that regulates cytopenia by reduction of the enlarged spleen. Objective. The aim of our study was to present the advantages of distal splenorenal shunt (Warren with partial spleen resection comparing morbidity and mortality in a group of patients treated by distal splenorenal shunt with partial spleen resection with a group of patients treated only by a distal splenorenal shunt. Method. From 1995 to 2003, 41 patients with portal hypertension were surgically treated due to hypersplenism and oesophageal varices. The first group consisted of 20 patients (11 male, mean age 42.3 years who were treated by distal splenorenal shunt with partial spleen resection. The second group consisted of 21 patients (13 male, mean age 49.4 years that were treated by distal splenorenal shunt only. All patients underwent endoscopy and assessment of oesophageal varices. The size of the spleen was evaluated by ultrasound, CT or by scintigraphy. Angiography was performed in all patients. The platelet and white blood cell count and haemoglobin level were registered. Postoperatively, we noted blood transfusion, complications and total hospital stay. Follow-up period was 12 months, with first checkup after one month. Results In the first group, only one patient had splenomegaly postoperatively (5%, while in the second group there were 13 patients with splenomegaly (68%. Before surgery, the mean platelet count in the first group was 51.6±18.3x109/l, to 118.6±25.4x109/l postoperatively. The mean platelet count in the second group was 67.6±22.8x109/l, to 87.8±32.1x109/l postoperatively. Concerning postoperative splenomegaly, statistically significant difference was noted between the first and the second group (p<0.05. Comparing the

Cardiac involvement in children with neuro-muscular disorders

Directory of Open Access Journals (Sweden)

E. N. Arkhipova

2015-01-01

Full Text Available Many inherited neuromuscular disorders include cardiac involvement as a typical clinical feature. Among the most common of them is the group of muscular dystrophies. Dilated cardiomyopathy, ventricular arrhythmias, atrial fibrillations, atrioventricular and intraventricular conduction abnormalities, and sudden cardiac death are well known pathological findings in Duchenne muscular dystrophies, myotonic dystrophy type I and 2, Emery-Dreifuss muscular dystrophies and different types of limb-girdle muscular dystrophies and other disorders. Detection of cardiac pathology in patients with different muscular dystrophies is possible with ECG, echocardiography and cardiovascular magnetic resonance imaging, which are recommended for screening and early cardioprotective treatment.

Spirometry improvement after muscular exercise in elite swimmers.

Science.gov (United States)

Rubini, Alessandro; Rizzato, Alex; Fava, Simone; Olivato, Nicola; Mangar, Devanand; Camporesi, Enrico M; Bosco, Gerardo

2017-12-01

An increased sympathetic activity during muscular effort is a well established physiological response, whose intensity is known to increase with the muscular load. Spirometry was described to improve as an effect of swimming training in healthy and asthmatic subjects, suggesting a decrease in airway resistance The aim was to investigate the possible effect of muscular exercise (swimming) on spirometry, in particular searching for possible differences because of different swimming times. The measurements were performed on 9 highly trained male competitive swimmers (age: 41±12.79 years, height: 1.69±0.06 meters, weight: 66.14±14.28 kg, BMI: 22.8±3.61 kg/m2) during an official competition. The data were collected at the border of the swimming-pool before (control, C) and few minutes after the swimming sessions (exercise, E), which consisted either of 800 meter (7 subjects) or 1500 meter (5 subjects) free style. A general trend indicating a postexercise increase in spirometry was observed. We found post-exercise significant increments in FEV1 and in MEF75 for both the 800 and 1500 meter swimming sessions, and in FEF25-75 and in MEF25 for the shorter distance. We conclude that, as it may be expected, muscular exercise induces an improvement of spirometry both because of a smooth muscle relaxation-induced modulation of airway diameter and resistance to airflow, and because of an enhanced expiratory muscle contraction strength. Both of these mechanisms are related to an increased sympathetic activity which is well known to accompany muscular exercise.

Spleen-preserving distal pancreatectomy in trauma.

Science.gov (United States)

Schellenberg, Morgan; Inaba, Kenji; Cheng, Vincent; Bardes, James M; Lam, Lydia; Benjamin, Elizabeth; Matsushima, Kazuhide; Demetriades, Demetrios

2018-01-01

Traumatic injuries to the distal pancreas are infrequent. Universally accepted recommendations about the need for routine splenectomy with distal pancreatectomy do not exist. The aims of this study were to compare outcomes after distal pancreatectomy and splenectomy versus spleen-preserving distal pancreatectomy, and to define the appropriate patient population for splenic preservation. All patients who underwent distal pancreatectomy (January 1, 2007, to December 31, 2014) were identified from the National Trauma Data Bank. Patients with concomitant splenic injury and those who underwent partial splenectomy were excluded. Demographics, clinical data, procedures, and outcomes were collected. Study groups were defined by surgical procedure: distal pancreatectomy and splenectomy versus spleen-preserving distal pancreatectomy. Baseline characteristics between groups were compared with univariate analysis. Multivariate analysis was performed with logistic and linear regression to examine differences in outcomes. Over the 8-year study period, 2,223 patients underwent distal pancreatectomy. After excluding 1,381 patients with concomitant splenic injury (62%) and 8 (pancreatectomy and splenectomy, those who underwent spleen-preserving distal pancreatectomy were younger (p pancreatectomy (p = 0.017). Complications, mortality, and intensive care unit LOS were not significantly different. In young patients after blunt trauma who are not severely injured, a spleen-preserving distal pancreatectomy should be considered to allow for conservation of splenic function and a shorter hospital LOS. In all other patients, the surgeon should not hesitate to remove the spleen with the distal pancreas. Therapy, level IV.

Muscular Imbalance Correction in the Power Fitness Training

OpenAIRE

Olga E. Aftimichuk; Alexander V. Varvarich

2013-01-01

Muscular imbalance is one of the manifestations of pathological-biomechanical changes in muscular-skeletal system. It is the result of tonus-power imbalance of short and relaxed muscles. Muscle shortening is the most striking sign of muscular imbalance. Hypodynamia and passive lifestyle can cause such results. The paper justifies the experimental technique of women muscular imbalances correction by means of power training. Selection of exercises, weights and machines was made, taking into acc...

Glucocorticoids for Duchenne Muscular Dystrophy

Directory of Open Access Journals (Sweden)

J Gordon Millichap

2013-07-01

Full Text Available Investigators at the Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, and other centers in the UK, conducted a prospective longitudinal study across 17 neuromuscular centers in the UK of 360 boys aged 3-15 years with Duchenne muscular dystrophy who were treated with daily or intermittent (10 days on/10 days off prednisolone for a mean duration of 4 years.

Muscular Dystrophy

Science.gov (United States)

... Surveillance Tracking and Research Network , known as MD STAR net . Learn more about CDC’s other muscular dystrophy ... for Disease Control and Prevention Email Recommend Tweet YouTube Instagram Listen Watch RSS ABOUT About CDC Jobs ...

Predicting muscularity-related behavior, emotions, and cognitions in men: The role of psychological need thwarting, drive for muscularity, and mesomorphic internalization.

Science.gov (United States)

Edwards, Christian; Tod, David; Molnar, Gyozo; Markland, David

2016-09-01

We examine the relationships that internalization, need thwarting (NT), and drive for muscularity (DFM), along with their interactions, had with weightlifting, muscle dissatisfaction (MD), and muscle-related-worry (MRW). A sample of 552 men (MAge=20.5 years, SD=3.1) completed the Psychological Need Thwarting Scale, the Internalization subscale of the male version of the Sociocultural Attitudes Towards Appearance Questionnaire, the Drive for Muscularity Scale-Attitudes subscale, the Male Body Attitudes Scale-Muscularity subscale, the Body Change Inventory-Worry subscale, and an inventory assessing weightlifting behavior. DFM significantly predicted weightlifting, MRW, and MD. Internalization significantly predicted weightlifting and MRW. NT significantly predicted weightlifting and MD, and its relationship with MRW approached significance. The interaction terms did not predict weightlifting or MRW. The NT/DFM and NT/Internalization interaction terms predicted MD. These results highlight the role of NT in predicting appearance variables in men. Copyright © 2016 Elsevier Ltd. All rights reserved.

Secondary Conditions Among Males With Duchenne or Becker Muscular Dystrophy.

Science.gov (United States)

Latimer, Rebecca; Street, Natalie; Conway, Kristin Caspers; James, Kathy; Cunniff, Christopher; Oleszek, Joyce; Fox, Deborah; Ciafaloni, Emma; Westfield, Christina; Paramsothy, Pangaja

2017-06-01

Duchenne and Becker muscular dystrophy are X-linked neuromuscular disorders characterized by progressive muscle degeneration. Despite the involvement of multiple systems, secondary conditions among affected males have not been comprehensively described. Two hundred nine caregivers of affected males (aged 3-31 years) identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network completed a mailed survey that included questions about secondary conditions impacting multiple body functions. The 5 most commonly reported conditions in males with Duchenne were cognitive deficits (38.4%), constipation (31.7%), anxiety (29.3%), depression (27.4%), and obesity (19.5%). Higher frequencies of anxiety, depression, and kidney stones were found among nonambulatory males compared to ambulatory males. Attention-deficit hyperactivity disorder (ADHD) was more common in ambulatory than nonambulatory males. These data support clinical care recommendations for monitoring of patients with Duchenne or Becker muscular dystrophy by a multidisciplinary team to prevent and treat conditions that may be secondary to the diagnosis.

The Chromatin Protein DUET/MMD1 Controls Expression of the Meiotic Gene TDM1 during Male Meiosis in Arabidopsis.

Science.gov (United States)

Andreuzza, Sébastien; Nishal, Bindu; Singh, Aparna; Siddiqi, Imran

2015-09-01

Meiosis produces haploid cells essential for sexual reproduction. In yeast, entry into meiosis activates transcription factors which trigger a transcriptional cascade that results in sequential co-expression of early, middle and late meiotic genes. However, these factors are not conserved, and the factors and regulatory mechanisms that ensure proper meiotic gene expression in multicellular eukaryotes are poorly understood. Here, we report that DUET/MMD1, a PHD finger protein essential for Arabidopsis male meiosis, functions as a transcriptional regulator in plant meiosis. We find that DUET-PHD binds H3K4me2 in vitro, and show that this interaction is critical for function during meiosis. We also show that DUET is required for proper microtubule organization during meiosis II, independently of its function in meiosis I. Remarkably, DUET protein shows stage-specific expression, confined to diplotene. We identify two genes TDM1 and JAS with critical functions in cell cycle transitions and spindle organization in male meiosis, as DUET targets, with TDM1 being a direct target. Thus, DUET is required to regulate microtubule organization and cell cycle transitions during male meiosis, and functions as a direct transcription activator of the meiotic gene TDM1. Expression profiling showed reduced expression of a subset comprising about 12% of a known set of meiosis preferred genes in the duet mutant. Our results reveal the action of DUET as a transcriptional regulator during male meiosis in plants, and suggest that transcription of meiotic genes is under stagewise control in plants as in yeast.

Distal renal tubular acidosis

Science.gov (United States)

... this disorder. Alternative Names Renal tubular acidosis - distal; Renal tubular acidosis type I; Type I RTA; RTA - distal; Classical RTA Images Kidney anatomy Kidney - blood and urine flow References Bose A, Monk RD, Bushinsky DA. Kidney ...

Laparoscopic versus open distal pancreatectomy for pancreatic cancer.

Science.gov (United States)

Riviere, Deniece; Gurusamy, Kurinchi Selvan; Kooby, David A; Vollmer, Charles M; Besselink, Marc G H; Davidson, Brian R; van Laarhoven, Cornelis J H M

2016-04-04

underwent open distal pancreatectomy); 11 studies (1506 participants: 353 undergoing laparoscopic distal pancreatectomy and 1153 undergoing open distal pancreatectomy) provided information for one or more outcomes. All of these studies were retrospective cohort-like studies or case-control studies. Most were at unclear or high risk of bias, and the overall quality of evidence was very low for all reported outcomes.Differences in short-term mortality (laparoscopic group: 1/329 (adjusted proportion based on meta-analysis estimate: 0.5%) vs open group: 11/1122 (1%); OR 0.48, 95% CI 0.11 to 2.17; 1451 participants; nine studies; I(2) = 0%), long-term mortality (HR 0.96, 95% CI 0.82 to 1.12; 277 participants; three studies; I(2) = 0%), proportion of people with serious adverse events (laparoscopic group: 7/89 (adjusted proportion: 8.8%) vs open group: 6/117 (5.1%); OR 1.79, 95% CI 0.53 to 6.06; 206 participants; three studies; I(2) = 0%), proportion of people with a clinically significant pancreatic fistula (laparoscopic group: 9/109 (adjusted proportion: 7.7%) vs open group: 9/137 (6.6%); OR 1.19, 95% CI 0.47 to 3.02; 246 participants; four studies; I(2) = 61%) were imprecise. Differences in recurrence at maximal follow-up (laparoscopic group: 37/81 (adjusted proportion based on meta-analysis estimate: 36.3%) vs open group: 59/103 (49.5%); OR 0.58, 95% CI 0.32 to 1.05; 184 participants; two studies; I(2) = 13%), adverse events of any severity (laparoscopic group: 33/109 (adjusted proportion: 31.7%) vs open group: 45/137 (32.8%); OR 0.95, 95% CI 0.54 to 1.66; 246 participants; four studies; I(2) = 18%) and proportion of participants with positive resection margins (laparoscopic group: 49/333 (adjusted proportion based on meta-analysis estimate: 14.3%) vs open group: 208/1133 (18.4%); OR 0.74, 95% CI 0.49 to 1.10; 1466 participants; 10 studies; I(2) = 6%) were also imprecise. Mean length of hospital stay was shorter by 2.43 days in the laparoscopic group than in the open group

A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy.

Science.gov (United States)

Victor, Ronald G; Sweeney, H Lee; Finkel, Richard; McDonald, Craig M; Byrne, Barry; Eagle, Michelle; Goemans, Nathalie; Vandenborne, Krista; Dubrovsky, Alberto L; Topaloglu, Haluk; Miceli, M Carrie; Furlong, Pat; Landry, John; Elashoff, Robert; Cox, David

2017-10-24

To conduct a randomized trial to test the primary hypothesis that once-daily tadalafil, administered orally for 48 weeks, lessens the decline in ambulatory ability in boys with Duchenne muscular dystrophy (DMD). Three hundred thirty-one participants with DMD 7 to 14 years of age taking glucocorticoids were randomized to tadalafil 0.3 mg·kg -1 ·d -1 , tadalafil 0.6 mg·kg -1 ·d -1 , or placebo. The primary efficacy measure was 6-minute walk distance (6MWD) after 48 weeks. Secondary efficacy measures included North Star Ambulatory Assessment and timed function tests. Performance of Upper Limb (PUL) was a prespecified exploratory outcome. Tadalafil had no effect on the primary outcome: 48-week declines in 6MWD were 51.0 ± 9.3 m with placebo, 64.7 ± 9.8 m with low-dose tadalafil ( p = 0.307 vs placebo), and 59.1 ± 9.4 m with high-dose tadalafil ( p = 0.538 vs placebo). Tadalafil also had no effect on secondary outcomes. In boys >10 years of age, total PUL score and shoulder subscore declined less with low-dose tadalafil than placebo. Adverse events were consistent with the known safety profile of tadalafil and the DMD disease state. Tadalafil did not lessen the decline in ambulatory ability in boys with DMD. Further studies should be considered to confirm the hypothesis-generating upper limb data and to determine whether ambulatory decline can be slowed by initiation of tadalafil before 7 years of age. NCT01865084. This study provides Class I evidence that tadalafil does not slow ambulatory decline in 7- to 14-year-old boys with Duchenne muscular dystrophy. Copyright © 2017 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript.

Science.gov (United States)

Todeschini, Alice; Gualandi, Francesca; Trabanelli, Cecilia; Armaroli, Annarita; Ravani, Anna; Fanin, Marina; Rota, Silvia; Bello, Luca; Ferlini, Alessandra; Pegoraro, Elena; Padovani, Alessandro; Filosto, Massimiliano

2016-10-01

We describe a 29-year-old patient who complained of left thigh muscle weakness since he was 23 and of moderate proximal weakness of both lower limbs with difficulty in climbing stairs and running since he was 27. Mild weakness of iliopsoas and quadriceps muscles and muscle atrophy of both the distal forearm and thigh were observed upon clinical examination. He harboured a novel c.1150-3C>G substitution in the DMD gene, affecting the intron 10 acceptor splice site and causing exon 11 skipping and an out-of-frame transcript. However, protein of normal molecular weight but in reduced amounts was observed on Western Blot analysis. Reverse transcription analysis on muscle RNA showed production, via alternative splicing, of a transcript missing exon 11 as well as a low abundant full-length transcript which is enough to avoid the severe Duchenne phenotype. Our study showed that a reduced amount of full length dystrophin leads to a mild form of Becker muscular dystrophy. These results confirm earlier findings that low amounts of dystrophin can be associated with a milder phenotype, which is promising for therapies aiming at dystrophin restoration. Copyright © 2016 Elsevier B.V. All rights reserved.

Adaptaciones musculares relacionadas a áreas corporales que participan activamente en el vuelo de Anhima cornuta (Aves: Anseriformes, Anhimidae

Directory of Open Access Journals (Sweden)

Marcos Antonio Manzanares

2013-04-01

Full Text Available La forma y correspondencia entre la anatomía muscular y ósea revela en gran medida el hábito locomotor de cualquier ave. Las especies pertenecientes a la Familia Anhimidae son relevantes dentro de las Aves, debido a las adaptaciones óseas (y por lo tanto, musculares que presentan, como la pérdida de procesos uncinados, el desarrollo de espolones metarcapales, la extrema neumatización y el notable desarrollo de forámenes. Se analizaron anatómicamente y numéricamente (superficie de origen e inserción, longitud en reposo y masa los componentes musculares relacionados a las zonas de la columna vertebral, tronco, miembros y cinturas de tres ejemplares de Anhima cornutade distintos sexos y se compararon con lo estudiado en 4 ejemplares de especies relacionadas (Dendrocygna bicolory Dendrocygna viduata, Anatidae. El estudio reveló que en Anhima existe un gran desarrollo de los músculos intercostales e intervertebrales (torácicos y lumbares, evidenciando una adaptación a la ausencia de procesos uncinados. En Anhimaexisten fascículos proporcionalmente menos pesados y de menor tamaño que en Dendrocygna, indicando morfológicamente la ocurrencia de un vuelo menos desarrollado en el primero. Algunos tendones y fibras musculares metacarpales cuya inserción ocurre en el primer dígito en Dendrocygna, en Anhimase insertan en la base de los espolones proximal y distal, demostrando el poco control del vuelo en Anhima. La musculatura de los miembros posteriores en Anhimaes mucho más desarrollada, tanto en tamaño, como en masa proporcional, evidenciando una gran actividad en esta zona en la propulsión del vuelo y en hábitos terrestres

Quantifying sex, race, and age specific differences in bone microstructure requires measurement of anatomically equivalent regions.

Science.gov (United States)

Ghasem-Zadeh, Ali; Burghardt, Andrew; Wang, Xiao-Fang; Iuliano, Sandra; Bonaretti, Serena; Bui, Minh; Zebaze, Roger; Seeman, Ego

2017-08-01

Individuals differ in forearm length. As microstructure differs along the radius, we hypothesized that errors may occur when sexual and racial dimorphisms are quantified at a fixed distance from the radio-carpal joint. Microstructure was quantified ex vivo in 18 cadaveric radii using high resolution peripheral quantitative computed tomography and in vivo in 158 Asian and Caucasian women and men at a fixed region of interest (ROI), a corrected ROI positioned at 4.5-6% of forearm length and using the fixed ROI adjusted for cross sectional area (CSA), forearm length or height. Secular effects of age were assessed by comparing 38 younger and 33 older women. Ex vivo, similar amounts of bone mass fashioned adjacent cross sections. Larger distal cross sections had thinner porous cortices of lower matrix mineral density (MMD), a larger medullary CSA and higher trabecular density. Smaller proximal cross-sections had thicker less porous cortices of higher MMD, a small medullary canal with little trabecular bone. Taller persons had more distally positioned fixed ROIs which moved proximally when corrected. Shorter persons had more proximally positioned fixed ROIs which moved distally when corrected, so dimorphisms lessened. In the corrected ROIs, in Caucasians, women had 0.6 SD higher porosity and 0.6 SD lower trabecular density than men (pmicrostructure requires measurement of anatomically equivalent regions. Copyright © 2017 Elsevier Inc. All rights reserved.

Distal protection in cardiovascular medicine: current status.

Science.gov (United States)

Ali, Onn Akbar; Bhindi, Ravinay; McMahon, Aisling C; Brieger, David; Kritharides, Leonard; Lowe, Harry C

2006-08-01

Iatrogenic and spontaneous downstream microembolization of atheromatous material is increasingly recognized as a source of cardiovascular morbidity and mortality. Devising ways of reducing this distal embolization using a variety of mechanical means--distal protection--is currently under intense and diverse investigation. This review therefore summarizes the present status of distal protection. It examines the problem of distal embolization, describes the available distal protection devices, reviews those areas of cardiovascular medicine where distal protection devices are being investigated, and discusses potential future developments.

A comparative study of intramedullary interlocking nailing and minimally invasive plate osteosynthesis in extra articular distal tibial fractures.

Science.gov (United States)

Daolagupu, Arup K; Mudgal, Ashwani; Agarwala, Vikash; Dutta, Kaushik K

2017-01-01

Extraarticular distal tibial fractures are among the most challenging fractures encountered by an orthopedician for treatment because of its subcutaneous location, poor blood supply and decreased muscular cover anteriorly, complications such as delayed union, nonunion, wound infection, and wound dehiscence are often seen as a great challenge to the surgeon. Minimally invasive plate osteosynthesis (MIPO) and intramedullary interlocking nail (IMLN) are two well-accepted and effective methods, but each has been historically related to complications. This study compares clinical and radiological outcome in extraarticular distal tibia fractures treated by intramedullary interlocking nail (IMLN) and minimally invasive plate osteosynthesis (MIPO). 42 patients included in this study, 21 underwent IMLN and 21 were treated with MIPO who met the inclusion criteria and operated between June 2014 and May 2015. Patients were followed up for clinical and radiological evaluation. In IMLN group, average union time was 18.26 weeks compared to 21.70 weeks in plating group which was significant ( P ankle stiffness, and infection, were seen in interlocking group as compared to plating group. Average functional outcome according to American Orthopedic Foot and Ankle Society score was measured which came out to be 96.67. IMLN group was associated with lesser duration of surgery, earlier weight bearing and union rate, lesser incidence of infection and implant irritation which makes it a preferable choice for fixation of extra-articular distal tibial fractures. However, larger randomized controlled trials are required for confirming the results.

Fractures of the distal radius in children: A retrospective evaluation

Directory of Open Access Journals (Sweden)

Selma Yazıcı

2012-06-01

Full Text Available Objectives: This study designed to evaluate the resultsof treatment, closed reduction and percutaneous wires, ofthe distal radius fractures in children.Materials and methods: A retrospective analysis wascarried out in children aged between 5-15 years who presentedwith a displaced fracture of the distal radius to ourhospital. They were initially treated with closed reductionand cast immobilization. If the fractures redisplaced treatedby percutaneous Kirschner (K- wire with scope undera general anaesthesia.Results: Totally 104 patients, who have distal radius fractureswere treated by closed reduction and immobilizationin a plaster cast. 13 patient who have distal radiusfractures were treated by closed reduction under generalanaesthesia and fixed by percutaneous Kirschner (K-wire. Patients with impaired the alignment of the fracturein late period were usually completely displaced fractures.(n=5, 4,3%, in early period, completely displaced fractures(n=5, 4,3% are superior to partial displaced fractures(n=2, 1,7%.Conclusion: In our study, when children with distal radiusfracture first come, they were treated by closed reductionand immobilization in a plaster cast. We thought that inredisplaced fractures patients were suitable for the closedreduction with percutaneous wire treatment.

Urological manifestations of Duchenne muscular dystrophy.

Science.gov (United States)

Askeland, Eric J; Arlen, Angela M; Erickson, Bradley A; Mathews, Katherine D; Cooper, Christopher S

2013-10-01

Duchenne muscular dystrophy is a dystrophinopathy affecting males that is associated with multiple organ system complications. To our knowledge urological complications of Duchenne muscular dystrophy have been described only anecdotally to date. We reviewed the medical charts of 135 patients with Duchenne or Duchenne-Becker muscular dystrophy for demographics and disease progression, urological diagnoses, intervention and followup. Of 135 patients 67 (50%) had at least 1 documented urological diagnosis and 38 (28%) had multiple manifestations. Lower urinary tract symptoms were the most common urological diagnosis (32% of patients). Survival analysis revealed a median age at onset of lower urinary tract symptoms of 23 years (95% CI 17.7-23.9). Intervention was required in 12 patients (9%), most commonly due to nephrolithiasis. Urological morbidity increased with Duchenne muscular dystrophy progression when stratified by clinical progression. Lower urinary tract symptoms were more common in nonambulatory patients (40.7% vs 19%, p = 0.007), those with a diagnosis of scoliosis (44% vs 19.7%, p = 0.003) and/or scoliosis spine surgery (60% vs 22%, p <0.001), and those on invasive respiratory support (53% vs 29%, p = 0.046). Likewise, nephrolithiasis was more common in nonambulatory patients (10% vs 0%, p = 0.017), those with scoliosis (12% vs 0%, p = 0.004) and/or scoliosis spine surgery (20% vs 1%, p <0.001), and those on invasive respiratory support (29% vs 3%, p <0.001). Only 28% of patients with a urological manifestation were referred to urology. As these patients transition into adolescence and adulthood, the increased prevalence of urological manifestations warrants increased awareness and referral to urologists. Copyright © 2013 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

A comparison between robotic-assisted laparoscopic distal pancreatectomy versus laparoscopic distal pancreatectomy.

Science.gov (United States)

Goh, Brian K P; Chan, Chung Yip; Soh, Hui-Ling; Lee, Ser Yee; Cheow, Peng-Chung; Chow, Pierce K H; Ooi, London L P J; Chung, Alexander Y F

2017-03-01

This study aims to compare the early perioperative outcomes of robotic-assisted laparoscopic distal pancreatectomy (RDP) versus laparoscopic distal pancreatectomy (LDP). The clinicopathologic features of 45 consecutive patients who underwent minimally-invasive distal pancreatectomy from 2006 to 2015 were retrospectively reviewed. Thirty-nine patients who met our study criteria were included. Eight patients underwent RDP and 31 had LDP. There were 10 (25.6%) open conversions. Six (15.4%) patients had major (> grade 2) morbidities and there was no in-hospital mortality. There were 14 (35.9%) grade A and 9 (23.1%) grade B pancreatic fistulas. Comparison between RDP and LDP demonstrated no significant difference between the patients' baseline characteristics except there was increased frequency of spleen-preserving pancreatectomies (3 (37.5%) vs 25 (80.6%), P=0.016) and splenic-vessel preservation (5 (62.5%) vs 4 (12.9%), P=0.003) in RDP. Comparison between outcomes demonstrated that RDP was associated with a longer median operation time (452.5 (range, 300-685) vs 245 min (range, 85-430), P=0.001) and increased frequency of the procedure completed purely laparoscopically (8 (100%) vs 18 (58.1%), P=0.025). RDP can be safely adopted and is equivalent to LDP in most perioperative outcomes. It is also associated with a decreased frequency of the need for hand-assistance laparoscopic surgery or open conversion but needed a longer operation time. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

Bone health measured using quantitative ultrasonography in adult males with muscular dystrophy.

Science.gov (United States)

Morse, C I; Smith, J; Denny, A; Tweedale, J; Searle, N D; Winwood, K; Onambele-Pearson, G L

2016-12-14

To compare muscle and bone health markers in adult males (aged 20-59 yrs) with and without muscular dystrophy (MD). Participants included 11 Fascioscapulohumeral (FSH), 11 Becker's (Be), 9 limb girdle (LG), 11 Duchenne (DMD), and 14 non-dystrophic controls (CTRL). Physical activity was assessed using Bone (BPAQ) and disability specific (PASIPD) questionnaires. Bone QUS provided T- and Z scores from the Distal Radius (DR) and Mid-shaft tibia (MST). Tibialis anterior cross sectional area (TA ACSA ) was measured using B-mode ultrasound. Grip strength was measured in all but DMD. Physical activity was lower in DMD, FSH and BeMD than CTRL (PPASIPD correlated with grip strength (r=0.65, P<0.01) and TA ACSA (r=0.46, P<0.01). Muscle size, strength, and bone health was lower in adult males with MD compared to adult males without MD, the extent of this is partially determined by physical activity.

Magnetic resonance imaging of skeletal muscle in patients with Duchenne muscular dystrophy

International Nuclear Information System (INIS)

Nagao, Hideo; Morimoto, Takehiko; Sano, Nozomi; Takahashi, Mitsugi; Nagai, Hironao; Tawa, Ritsuko; Yoshimatsu, Makoto; Woo Young-Jong; Matsuda, Hiroshi.

1991-01-01

Magnetic resonance imaging of skeletal muscles in thirteen patients with Duchenne muscular dystrophy was performed to estimate pathological changes. Serial axial and sagittal sections of the right lower extremity were recorded. In the early stage, the T 1 values of gastrocnemius and soleus muscles were slightly lower than the control values, and in the late stage, the values were much lower in all muscles examined. In sagittal sections, the gastrocnemius muscle in the early stage showed a high density area at the distal region adjacent to soleus muscle, and the soleus muscle showed a high density area adjacent to the gestrocnemius muscle. In serial axial sections, high density areas of the anterior and posterior tibialis muscles appeared first at their proximal and peripheral regions. It was concluded that the sequence of appearance of pathological changes was different not only among individual muscles but also among various regions of each muscle; the high density changes appeared first at myotendon junctions. (author)

Atrofia muscular espinal en el niño Spinal muscular atrophy present in children

Directory of Open Access Journals (Sweden)

Nicolás Garófalo Gómez

2009-09-01

Full Text Available INTRODUCCIÓN. Las atrofias musculares espinales en la infancia (AME son trastornos genéticos autosómicos recesivos, caracterizados por degeneración de las motoneuronas espinales y bulbares. El presente estudio tuvo el objetivo principal de describir las principales características clínicas en una serie de niños con AME. MÉTODOS. Se realizó un estudio retrospectivo de los pacientes con AME atendidos en el Instituto de Neurología y Neurocirugía de Cuba, entre enero de 1997 y diciembre de 2001. Se recopilaron los datos de 35 pacientes, 4 de ellos, fetos con confirmación prenatal de AME. Se precisaron las principales características clínicas, electromiográficas, de la biopsia muscular y de los estudios genéticos moleculares realizados en cada caso. RESULTADOS. La AME de tipo II resultó la forma clínica más frecuente (58 %, seguida por la AME de tipo I (42 %. Las principales manifestaciones clínicas resultaron la debilidad muscular generalizada con predominio proximal en extremidades, asociada a hipotonía y arreflexia osteotendinosa. La deleción de los exones 7 y 8 del gen SMN1 se detectó en 20 de 23 casos estudiados (87 %.INTRODUCTION: Spinal muscular atrophies (SMA in childhood are autosomal recessive genetic disorders, characterized by spinal and bulbar motoneurons degenerations. Aim of present paper was to describe the main clinical features in a series of children presenting SMA. METHODS: A retrospective study of patients with SMA seen in the Neurology and Neurosurgery Institute of Cuba from January, 2997 and December, 2001 was made. Data from 35 patients were available; four of them were fetus with prenatal confirmation of SMA. Main clinical, electromyography, muscular biopsy, and of molecular genetic studies performed in each case were determined. RESULTS: Type II SMA was the more frequent clinical presentation (58%, followed by type I SMA (42,%. Main clinical manifestations were a systemic muscular weakness with

Radiographic features of Golden Retriever muscular dystrophy.

Science.gov (United States)

Brumitt, Jason W; Essman, Stephanie C; Kornegay, Joe N; Graham, John P; Weber, William J; Berry, Clifford R

2006-01-01

Golden Retriever muscular dystrophy is an inherited, degenerative myopathy due to the absence of dystrophin and is used as a model of Duchenne muscular dystrophy of young boys. This report describes the radiographic abnormalities of Golden Retriever muscular dystrophy in 26 dogs. The thoracic abnormalities included diaphragmatic asymmetry (18/26), diaphragmatic undulation (18/26), and gastro-esophageal hiatal hernia (6/26). Pelvic abnormalities included narrowing of the body of the ilia (14/19), ventral deviation and curvature of the tuber ischii (14/19), elongation of the obturator foramen with a decrease in opacity of the surrounding bone (12/19), and lateral flaring of the wings of the ilia (12/19). Abdominal abnormalities consisted of hepatomegaly (14/22) and poor serosal detail (12/22). The unique thoracic abnormalities were a consistent finding in affected Golden Retriever muscular dystrophy dogs. The diagnosis of muscular dystrophy should be included in the differential list if the combination of diaphragm undulation and asymmetry, and gastro-esophageal hiatal hernia are identified. These diaphragmatic abnormalities are related to hypertrophy and hyperplasia of the diaphragm. Additionally, the skeletal changes of pelvic tilt, elongation of the pelvis, widening of the obturator foramina and thinning of the ischiatic tables appear to be specific to Golden Retriever muscular dystrophy in dogs. These pelvic abnormalities are most likely secondary to bone remodeling associated with the progressive skeletal myopathy and subsequent contracture/fibrosis.

What Are the Types of Muscular Dystrophy?

Science.gov (United States)

... muscular dystrophy? There are more than 30 forms of muscular dystrophy (MD), with information on the primary types included in the table below. 1 Duchenne (DMD) What It Is Common Symptoms How It ...

Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy.

Science.gov (United States)

Wood, Molly F; Hughes, Sarah C; Hache, Lauren P; Naylor, Edwin W; Abdel-Hamid, Hoda Z; Barmada, M Michael; Dobrowolski, Steven F; Stickler, David E; Clemens, Paula R

2014-06-01

Disease inclusion in the newborn screening (NBS) panel should consider the opinions of those most affected by the outcome of screening. We assessed the level and factors that affect parent attitudes regarding NBS panel inclusion of Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and spinal muscular atrophy (SMA). The attitudes toward NBS for DMD, BMD, and SMA were surveyed and compared for 2 categories of parents, those with children affected with DMD, BMD, or SMA and expectant parents unselected for known family medical history. The level of support for NBS for DMD, BMD, and SMA was 95.9% among parents of children with DMD, BMD, or SMA and 92.6% among expectant parents. There was strong support for NBS for DMD, BMD, and SMA in both groups of parents. Given advances in diagnostics and promising therapeutic approaches, discussion of inclusion in NBS should continue. Copyright © 2013 Wiley Periodicals, Inc.

Mitochondrial disorders in progressive muscular dystrophies

Directory of Open Access Journals (Sweden)

D. A. Kharlamov

2014-01-01

Full Text Available The literature review gives data on the role of mitochondrial disorders in the pathogenesis of different progressive muscular dystrophies. It describes changes in Duchenne, limb-girdle, facial scapulohumeral (Landuzi—Degerina muscular dystrophies. The review is based on both clinical and experimental animal studies. Along with the implication of mitochondria in the pathogenesis of the diseases, it describes muscular dystrophy treatment options compensating for energy disorders and overcoming oxidative stress and mitochondrial dysfunction. Mitochondrial studies in different muscle diseases hand physicians treatment modalities that fail to lead to recovery, but compensate for disorders caused by mutations in the genetic apparatus. 

Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): case definition in surveillance for childhood-onset Duchenne/Becker muscular dystrophy.

Science.gov (United States)

Mathews, Katherine D; Cunniff, Chris; Kantamneni, Jiji R; Ciafaloni, Emma; Miller, Timothy; Matthews, Dennis; Cwik, Valerie; Druschel, Charlotte; Miller, Lisa; Meaney, F John; Sladky, John; Romitti, Paul A

2010-09-01

The Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) is a multisite collaboration to determine the prevalence of childhood-onset Duchenne/Becker muscular dystrophy and to characterize health care and health outcomes in this population. MD STARnet uses medical record abstraction to identify patients with Duchenne/Becker muscular dystrophy born January 1, 1982 or later who resided in 1 of the participating sites. Critical diagnostic elements of each abstracted record are reviewed independently by >4 clinicians and assigned to 1 of 6 case definition categories (definite, probable, possible, asymptomatic, female, not Duchenne/Becker muscular dystrophy) by consensus. As of November 2009, 815 potential cases were reviewed. Of the cases included in analysis, 674 (82%) were either ''definite'' or ''probable'' Duchenne/Becker muscular dystrophy. These data reflect a change in diagnostic testing, as case assignment based on genetic testing increased from 67% in the oldest cohort (born 1982-1987) to 94% in the cohort born 2004 to 2009.

Effects of intestinal muscular wrapping on remnant intestinal motility after massive small bowel resection in conscious canines.

Science.gov (United States)

Uchiyama, M; Iwafuchi, M; Yagi, M; Iinuma, Y; Kanada, S; Ohtaki, M; Yamazaki, S; Homma, S

2000-04-01

We searched the effect of the muscular valve on the management of short bowel syndrome. The motility of the remnant intestine with a special muscular valve after 80% massive distal small bowel resection (MSBR) was evaluated in conscious dogs. The valve (muscular ring) was made by the autointestinal muscle layer holding vascular pedicle. Interdigestive and postprandial bowel motility using bipolar electrodes and/or contractile strain gauge force transducers 2-4 weeks after the surgery, and data of this group (Group I) were compared to the motility in dogs after MSBR without valve construction (Group II) and in controls (Control). Results; Fasting duodenal migrating myoelectric (or motor) complexes (MMCs) in Group I occurred at longer intervals than in Control and almost similarly to those in Group II. MMCs arising from the duodenum were often interrupted before the jejunum above the valve and the anastomosis. The velocity of duodenal MMC propagation was slowed in every intestinal segment including that from the duodenum to the proximal jejunum, and to the jejunum above the anastomosis. Transit time in MSBR group (I and II) from the duodenum to the terminal ileum was extremely shorter than in Control, but there were no differences between in Groups I and II. The duration of the postprandial period without duodenal MMCs in Group I was significantly prolonged than in Control, but was shorter than that in Group II. The muscular valve was frequently activated, and the jejunum covered with the valve was contracted frequently which synchronized with the valve activity. It seemed the valve worked as sphincter. However, intestinal obstruction was not occurred through the jejunum covered by the valve. In conclusion, changes in gut motility after MSBR with the valve construction compensate for the shortened intestine and maintain the bowel content earlier postoperatively in comparison with the MSBR alone, and also contribute to the adaptive increase in the remnant intestinal

Changes in muscular fitness and its association with blood pressure in adolescents.

Science.gov (United States)

Agostinis-Sobrinho, César; Ruiz, Jonatan R; Moreira, Carla; Lopes, Luís; Ramírez-Vélez, Robinson; García-Hermoso, Antonio; Mota, Jorge; Santos, Rute

2018-05-08

The aims of this study were to examine the longitudinal association between muscular fitness (MF) and blood pressure (BP) 2 years later, and to determine whether changes in MF over a 2-year period were associated with BP at follow-up, in adolescents. The sample comprised 734 youths (349 girls) aged from 12 to 18 years. MF was assessed with the standing long jump and handgrip tests. Socioeconomic status, pubertal stage, waist circumference, resting BP, and cardiorespiratory fitness were measured according to standard procedures. Regression analyses showed a significant inverse association between MF at baseline and systolic BP (β = - 0.072; p = 0.032) and rate pressure product (β = - 0.124; p fitness, these associations did not remain significant. Adolescents with persistently high and increasing MF exhibited the lowest levels of diastolic BP (F (3, 721)  = 3.814, p = 0.018) and systolic BP (F (3, 721)  = 3.908, p = 0.014) when compared to those with persistent low MF after adjustment for age, sex, height, socioeconomic status, cardiorespiratory fitness, and waist circumference. This study suggests that persistent greater and increasing MF in youth are associated with lower levels of BP across the adolescence. What is Known: • Currently, there is a growing interest on the health benefits of muscular fitness. • Cross-sectional studies have identified an association between muscular fitness and blood pressure in adolescents. What is New: • Changes in muscular fitness during adolescence were associated with systolic and diastolic BP over a 2-year period. • Adolescents with persistently low muscular fitness exhibited the highest levels of diastolic and systolic BP.

Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report

Directory of Open Access Journals (Sweden)

Scola Rosana Herminia

2001-01-01

Full Text Available We report the case of a 3-1/2-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA. The serum muscle enzimes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic denervation compatible with spinal muscular atrophy. Analysis of exons 7 and 8 of survival motor neuron gene through polymerase chain reaction did not show deletions. Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous.

Becker muscular dystrophy: an unusual presentation.

OpenAIRE

Thakker, P B; Sharma, A

1993-01-01

A 15 year old boy who presented with passing painless dark urine was found to have myoglobinuria. His creatine phosphokinase was raised, and a muscle biopsy specimen showed non-specific dystrophic changes. Subsequent DNA analysis led to the diagnosis of Becker muscular dystrophy. Myoglobinuria may be a presenting symptom of Becker muscular dystrophy.

Cost-effectiveness of laparoscopic versus open distal pancreatectomy for pancreatic cancer.

Science.gov (United States)

Gurusamy, Kurinchi Selvan; Riviere, Deniece; van Laarhoven, C J H; Besselink, Marc; Abu-Hilal, Mohammed; Davidson, Brian R; Morris, Steve

2017-01-01

A recent Cochrane review compared laparoscopic versus open distal pancreatectomy for people with for cancers of the body and tail of the pancreas and found that laparoscopic distal pancreatectomy may reduce the length of hospital stay. We compared the cost-effectiveness of laparoscopic distal pancreatectomy versus open distal pancreatectomy for pancreatic cancer. Model based cost-utility analysis estimating mean costs and quality-adjusted life years (QALYs) per patient from the perspective of the UK National Health Service. A decision tree model was constructed using probabilities, outcomes and cost data from published sources. A time horizon of 5 years was used. One-way and probabilistic sensitivity analyses were undertaken. The probabilistic sensitivity analysis showed that the incremental net monetary benefit was positive (£3,708.58 (95% confidence intervals (CI) -£9,473.62 to £16,115.69) but the 95% CI includes zero, indicating that there is significant uncertainty about the cost-effectiveness of laparoscopic distal pancreatectomy versus open distal pancreatectomy. The probability laparoscopic distal pancreatectomy was cost-effective compared to open distal pancreatectomy for pancreatic cancer was between 70% and 80% at the willingness-to-pay thresholds generally used in England (£20,000 to £30,000 per QALY gained). Results were sensitive to the survival proportions and the operating time. There is considerable uncertainty about whether laparoscopic distal pancreatectomy is cost-effective compared to open distal pancreatectomy for pancreatic cancer in the NHS setting.

Oxidative muscular injury and its relevance to hyperthyroidism.

Science.gov (United States)

Asayama, K; Kato, K

1990-01-01

In experimental hyperthyroidism, acceleration of lipid peroxidation occurs in heart and slow-oxidative muscles, suggesting the contribution of reactive oxygen species to the muscular injury caused by thyroid hormones. This article reviews various models of oxidative muscular injury and considers the relevance of the accompanying metabolic derangements to thyrotoxic myopathy and cardiomyopathy, which are the major complications of hyperthyroidism. The muscular injury models in which reactive oxygen species are supposed to play a role are ischemia/reperfusion syndrome, exercise-induced myopathy, heart and skeletal muscle diseases related to the nutritional deficiency of selenium and vitamin E and related disorders, and genetic muscular dystrophies. These models provide evidence that mitochondrial function and the glutathione-dependent antioxidant system are important for the maintenance of the structural and functional integrity of muscular tissues. Thyroid hormones have a profound effect on mitochondrial oxidative activity, synthesis and degradation of proteins and vitamin E, the sensitivity of the tissues to catecholamine, the differentiation of muscle fibers, and the levels of antioxidant enzymes. The large volume of circumstantial evidence presented here indicates that hyperthyroid muscular tissues undergo several biochemical changes that predispose them to free radical-mediated injury.

3D MR cisternography to identify distal dural rings. Comparison of 3D-CISS and 3D-SPACE sequences

International Nuclear Information System (INIS)

Watanabe, Yoshiyuki; Makidono, Akari; Nakamura, Miho; Saida, Yukihisa

2011-01-01

The distal dural ring (DDR) is an anatomical landmark used to distinguish intra- and extradural aneurysms. We investigated identification of the DDR using 2 three-dimensional (3D) magnetic resonance (MR) cisternography sequences-3D constructive interference in steady state (CISS) and 3D sampling perfection with application optimized contrasts using different flip angle evolutions (SPACE)-at 3.0 tesla. Ten healthy adult volunteers underwent imaging with 3D-CISS, 3D-SPACE, and time-of-flight (TOF) MR angiography (TOF-MRA) sequences at 3.0T. We analyzed DDR identification and internal carotid artery (ICA) signal intensity and classified the shape of the carotid cave. We identified the DDR using both 3D-SPACE and 3D-CISS, with no significant difference between the sequences. Visualization of the outline of the ICA in the cavernous sinus (CS) was significantly clearer with 3D-SPACE than 3D-CISS. In the CS and petrous portions, signal intensity was lower with 3D-SPACE, and the flow void was poor with 3D-CISS in some subjects. We identified the DDR with both 3D-SPACE and 3D-CISS, but the superior contrast of the ICA in the CS using 3D-SPACE suggests the superiority of this sequence for evaluating the DDR. (author)

Muscular Dystrophy (MD)

Science.gov (United States)

... patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities. View Full Treatment Information Definition The muscular dystrophies (MD) are a group of more than 30 ...

Respiratory function in facioscapulohumeral muscular dystrophy 1

NARCIS (Netherlands)

Wohlgemuth, M.; Horlings, G.C.; Kooi, E.L. van der; Gilhuis, H.J.; Hendriks, J.C.M.; Maarel, S.M. van der; Engelen, B.G.M. van; Heijdra, Y.F.; Padberg, G.W.A.M.

2017-01-01

To test the hypothesis that wheelchair dependency and (kypho-)scoliosis are risk factors for developing respiratory insufficiency in facioscapulohumeral muscular dystrophy, we examined 81 patients with facioscapulohumeral muscular dystrophy 1 of varying degrees of severity ranging from ambulatory

[Human myopathy and animal muscular dystrophy].

Science.gov (United States)

Schapira, G; Dreyfus, J C; Schapira, F

1977-08-01

Two hereditary muscular dystrophies similar to human progressive muscular dystrophy (P.M.D. Duchenne type) have been isolated in animals, one in mouse, the other in chicken. The decrease in the activity of glycogenolytic enzymes is similar to that observed in denervated muscle. Isozymic fetal types for several muscular enzymes have been observed as well in chicken as in man, but this fetal type may also be found in neurogenic atrophy. The release in circulation of muscle enzymes seems more specific. But the origin of the genetic lesion is still unknown. We describe here the three different theories about this problem: i.e. neurogenic, vascular, or myogenic. This last theory implies a trouble of membrane permeability.

Recent developments in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy

Science.gov (United States)

Liew, Wendy K. M.

2013-01-01

Pediatric neuromuscular disorders comprise a large variety of disorders that can be classified based on their neuroanatomical localization, patterns of weakness, and laboratory test results. Over the last decade, the field of translational research has been active with many ongoing clinical trials. This is particularly so in two common pediatric neuromuscular disorders: Duchenne muscular dystrophy and spinal muscular atrophy. Although no definitive therapy has yet been found, numerous active areas of research raise the potential for novel therapies in these two disorders, offering hope for improved quality of life and life expectancy for affected individuals. PMID:23634188

Genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies.

Science.gov (United States)

Hightower, Rylie M; Alexander, Matthew S

2018-01-01

Muscular dystrophy is defined as the progressive wasting of skeletal muscles that is caused by inherited or spontaneous genetic mutations. Next-generation sequencing has greatly improved the accuracy and speed of diagnosis for different types of muscular dystrophy. Advancements in depth of coverage, convenience, and overall reduced cost have led to the identification of genetic modifiers that are responsible for phenotypic variability in affected patients. These genetic modifiers have been postulated to explain key differences in disease phenotypes, including age of loss of ambulation, steroid responsiveness, and the presence or absence of cardiac defects in patients with the same form of muscular dystrophy. This review highlights recent findings on genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies based on animal and clinical studies. These genetic modifiers hold great promise to be developed into novel therapeutic targets for the treatment of muscular dystrophies. Muscle Nerve 57: 6-15, 2018. © 2017 Wiley Periodicals, Inc.

Biotin absorption by distal rat intestine

International Nuclear Information System (INIS)

Bowman, B.B.; Rosenberg, I.H.

1987-01-01

We used the in vivo intestinal loop approach, with short (10-min) and long (3-h) incubations, to examine biotin absorption in proximal jejunum, distal ileum, cecum and proximal colon. In short-term studies, luminal biotin disappearance from rat ileum was about half that observed in the jejunum, whereas absorption by proximal colon was about 12% of that in the jejunum. In 3-h closed-loop studies, the absorption of 1.0 microM biotin varied regionally. Biotin absorption was nearly complete in the small intestine after 3 h; however, only about 15% of the dose had been absorbed in the cecum and 27% in the proximal colon after 3 h. Independent of site of administration, the major fraction of absorbed biotin was recovered in the liver; measurable amounts of radioactive biotin were also present in kidney and plasma. The results support the potential nutritional significance for the rat of biotin synthesized by bacteria in the distal intestine, by demonstrating directly an absorptive capability of mammalian large bowel for this vitamin

Diagnosis of moyamoya disease using 3-T MRI and MRA: value of cisternal moyamoya vessels

Energy Technology Data Exchange (ETDEWEB)

Sawada, Takeshi; Yamamoto, Akira; Okada, Tomohisa; Kanagaki, Mitsunori; Kasahara, Seiko; Togashi, Kaori [Kyoto University, Department of Diagnostic Imaging and Nuclear Medicine, Graduate School of Medicine, Kyoto (Japan); Miki, Yukio [Osaka City University, Department of Radiology, Graduate School of Medicine, Osaka (Japan); Kikuta, Ken-ichiro [Fukui University, Division of Neurosurgery, Department of Sensory and Locomotor Medicine, Faculty of Medical Sciences, Fukui (Japan); Miyamoto, Susumu; Takahashi, Jun C. [Kyoto University, Department of Neurosurgery, Graduate School of Medicine, Kyoto (Japan); Fukuyama, Hidenao [Kyoto University, Human Brain Research Center, Graduate School of Medicine, Kyoto (Japan)

2012-10-15

The purpose of this study was to propose new magnetic resonance (MR) criteria of diagnosing moyamoya disease (MMD) from cisternal moyamoya vessels (MMVs) on 3-T magnetic resonance imaging (MRI)/magnetic resonance angiography (MRA) and compare the diagnostic accuracy of the existing MR criteria and the proposed MR criteria. Participants comprised 20 consecutive patients with MMD (4 males, 16 females) diagnosed clinically using conventional angiography and 20 controls (13 male and 7 female arteriosclerosis patients). In these participants, 3-T MRI/MRA was evaluated by the existing MR criteria, which use MMVs in the basal ganglia, and the proposed MR criteria, which use cisternal MMVs, and then these two criteria were statistically compared by McNemar's test. Diagnostic accuracy was 62.5% with the existing MR criteria and 97.5% with the proposed MR criteria. The proposed MR criteria was more sensitive (1.00) than the existing MR criteria (0.45), but less specific (0.95) than the existing MR criteria (1.00). The proposed MR criteria using cisternal MMVs showed significantly higher diagnostic accuracy than the existing MR criteria. We believe that our proposed MR criteria will be beneficial for diagnosing MMD. (orig.)

Diagnosis of moyamoya disease using 3-T MRI and MRA: value of cisternal moyamoya vessels

International Nuclear Information System (INIS)

Sawada, Takeshi; Yamamoto, Akira; Okada, Tomohisa; Kanagaki, Mitsunori; Kasahara, Seiko; Togashi, Kaori; Miki, Yukio; Kikuta, Ken-ichiro; Miyamoto, Susumu; Takahashi, Jun C.; Fukuyama, Hidenao

2012-01-01

The purpose of this study was to propose new magnetic resonance (MR) criteria of diagnosing moyamoya disease (MMD) from cisternal moyamoya vessels (MMVs) on 3-T magnetic resonance imaging (MRI)/magnetic resonance angiography (MRA) and compare the diagnostic accuracy of the existing MR criteria and the proposed MR criteria. Participants comprised 20 consecutive patients with MMD (4 males, 16 females) diagnosed clinically using conventional angiography and 20 controls (13 male and 7 female arteriosclerosis patients). In these participants, 3-T MRI/MRA was evaluated by the existing MR criteria, which use MMVs in the basal ganglia, and the proposed MR criteria, which use cisternal MMVs, and then these two criteria were statistically compared by McNemar's test. Diagnostic accuracy was 62.5% with the existing MR criteria and 97.5% with the proposed MR criteria. The proposed MR criteria was more sensitive (1.00) than the existing MR criteria (0.45), but less specific (0.95) than the existing MR criteria (1.00). The proposed MR criteria using cisternal MMVs showed significantly higher diagnostic accuracy than the existing MR criteria. We believe that our proposed MR criteria will be beneficial for diagnosing MMD. (orig.)

Anti-gravity training improves walking capacity and postural balance in patients with muscular dystrophy

DEFF Research Database (Denmark)

Berthelsen, Martin Peter; Husu, Edith; Christensen, Sofie Bouschinger

2014-01-01

of their weakness. We investigated the functional effects of combined aerobic and strength training in patients with Becker and limb-girdle muscular dystrophies with knee muscle strength levels as low as 3% of normal strength. Eight patients performed 10weeks of aerobic and strength training on an anti...... affected patients with Becker and limb-girdle muscular dystrophies.......Recent studies in patients with muscular dystrophies suggest positive effects of aerobic and strength training. These studies focused training on using bicycle ergometers and conventional strength training, which precludes more severely affected patients from participating, because...

Autosomal dominant distal myopathy: Linkage to chromosome 14

Energy Technology Data Exchange (ETDEWEB)

Laing, N.G.; Laing, B.A.; Wilton, S.D.; Dorosz, S.; Mastaglia, F.L.; Kakulas, B.A. [Australian Neuromuscular Research Institute, Perth (Australia); Robbins, P.; Meredith, C.; Honeyman, K.; Kozman, H.

1995-02-01

We have studied a family segregating a form of autosomal dominant distal myopathy (MIM 160500) and containing nine living affected individuals. The myopathy in this family is closest in clinical phenotype to that first described by Gowers in 1902. A search for linkage was conducted using microsatellite, VNTR, and RFLP markers. In total, 92 markers on all 22 autosomes were run. Positive linkage was obtained with 14 of 15 markers tested on chromosome 14, with little indication of linkage elsewhere in the genome. Maximum two-point LOD scores of 2.60 at recombination fraction .00 were obtained for the markers MYH7 and D14S64 - the family structure precludes a two-point LOD score {ge} 3. Recombinations with D14S72 and D14S49 indicate that this distal myopathy locus, MPD1, should lie between these markers. A multipoint analysis assuming 100% penetrance and using the markers D14S72, D14S50, MYH7, D14S64, D14S54, and D14S49 gave a LOD score of exactly 3 at MYH7. Analysis at a penetrance of 80% gave a LOD score of 2.8 at this marker. This probable localization of a gene for distal myopathy, MPD1, on chromosome 14 should allow other investigators studying distal myopathy families to test this region for linkage in other types of the disease, to confirm linkage or to demonstrate the likely genetic heterogeneity. 24 refs., 3 figs., 1 tab.

Lesiones musculares en el deporte. Muscular injuries in sport.

Directory of Open Access Journals (Sweden)

Jiménez Díaz, José Fernando

2006-04-01

Full Text Available ResumenDurante la práctica de la actividad física hay una gran incidencia de lesiones musculares, si bien se han llevado a cabo pocos estudios clínicos sobre el tratamiento y la resolución de las mismas. Desde el punto de vista etiopatogénico, hay que señalar que la incidencia de lesión es mayor en aquellos músculos poliarticulares en condiciones de acumulación de fatiga y con condiciones ambientales desfavorables. La clasificación de las lesiones musculares permite distinguir entre aquellas que no afectan a la fascia produciéndose un sangrado dentro del mismo (intramuscular o bien si la fascia también se rompe, el sangrado se sitúa entre los diferentes músculos (intermuscular. El tratamiento de estas lesiones se realizará combinando reposo, compresión, aplicación de frío y elevación del área lesionada así como el desarrollo de un adecuado programa de readaptación funcional que permita al jugador incorporarse lo antes posible a la dinámica del equipo. En la actualidad se está llevando a cabo opciones terapéuticas con factores de crecimiento, terapia génica y células madre, si bien todavía no están lo suficientemente desarrolladas.AbstractDuring the practice of the physical activity there is a great effect of muscular injuries, though few clinical studies have been carried out on the treatment and the resolution of the same ones. Inside the reasons it is necessary to indicate that the effect of injury is major in those muscles you will polyarticulate in situation of fatigue and with environmental unfavorable conditions.The classification of the muscular injuries allows to distinguish between those that do not affect the fascia producing the bled intramuscular or if the fascia also breaks, the bled one places between the different muscles (intermuscular.The treatment will be realized combining rest, compression, application of cold and elevation of these injuries as well as the development of a program of functional

Serum Creatinine Distinguishes Duchenne Muscular Dystrophy from Becker Muscular Dystrophy in Patients Aged ≤3 Years: A Retrospective Study.

Science.gov (United States)

Wang, Liang; Chen, Menglong; He, Ruojie; Sun, Yiming; Yang, Juan; Xiao, Lulu; Cao, Jiqing; Zhang, Huili; Zhang, Cheng

2017-01-01

Here, we investigated correlations between serum creatinine (SCRN) levels and clinical phenotypes of dystrophinopathy in young patients. Sixty-eight patients with dystrophinopathy at the Neuromuscular Clinic, The First Affiliated Hospital, Sun Yat-sen University, were selected for this study. The diagnosis of dystrophinopathy was based on clinical manifestation, biochemical changes, and molecular analysis. Some patients underwent muscle biopsies; SCRN levels were tested when patients were ≤3 years old, and reading frame changes were analyzed. Each patient was followed up, and motor function and clinical phenotype were assessed when the same patients were ≥4 years old. Our findings indicated that in young patients, lower SCRN levels were associated with increased disease severity ( p  Becker muscular dystrophy (BMD) ( p  dystrophy (DMD) ( p  < 0.01) and were significantly higher in patients carrying in-frame mutations than in patients carrying out-of-frame mutations ( p  < 0.001). SCRN level cutoff values for identifying mild BMD [18 µmol/L; area under the curve (AUC): 0.947; p  < 0.001] and DMD (17 µmol/L; AUC: 0.837; p  < 0.001) were established. These results suggest that SCRN might be a valuable biomarker for distinguishing DMD from BMD in patients aged ≤3 years and could assist in the selection of appropriate treatment strategies.

Resistance training in patients with limb-girdle and becker muscular dystrophies

DEFF Research Database (Denmark)

Sveen, Marie-Louise; Andersen, Søren P; Ingelsrud, Lina H

2013-01-01

In this study we investigated the effect of strength training in patients with limb-girdle muscular dystrophy (LGMD) and Becker muscular dystrophy (BMD).......In this study we investigated the effect of strength training in patients with limb-girdle muscular dystrophy (LGMD) and Becker muscular dystrophy (BMD)....

Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands : a cohort study

NARCIS (Netherlands)

Hoogerwaard, EM; Bakker, E; Ippel, PF; Oosterwijk, JC; Majoor-Krakauer, DF; Leschot, NJ; Van Essen, AJ; Brunner, HG; van der Wouw, PA; Wilde, AAM; de Visser, Marianne

1999-01-01

Background Carriers of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) may show muscle weakness or dilated cardiomyopathy. Studies focusing on skeletal-muscle involvement were done before DNA analysis was possible. We undertook a cross-sectional study in a population of

Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study

NARCIS (Netherlands)

Hoogerwaard, E. M.; Bakker, E.; Ippel, P. F.; Oosterwijk, J. C.; Majoor-Krakauer, D. F.; Leschot, N. J.; van Essen, A. J.; Brunner, H. G.; van der Wouw, P. A.; Wilde, A. A.; de Visser, M.

1999-01-01

BACKGROUND: Carriers of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) may show muscle weakness or dilated cardiomyopathy. Studies focusing on skeletal-muscle involvement were done before DNA analysis was possible. We undertook a cross-sectional study in a population of

Pain in adolescents with spinal muscular atrophy and Duchenne and Becker muscular dystrophy.

Science.gov (United States)

Lager, Christina; Kroksmark, Anna-Karin

2015-09-01

The purpose of this study was to explore the prevalence, nature and scope of pain in adolescents with spinal muscular atrophy and Duchenne and Becker muscular dystrophy and whether the pain differs between diagnostic groups or between adolescents with different ambulation status. Furthermore to study the consequences of pain and to identify pain-exacerbating and pain-relieving factors. In a national survey, fifty-five adolescents with spinal muscular atrophy and dystrophinopathy completed a questionnaire assessing pain frequency, duration, location using a body map, intensity and discomfort using visual analogue scales, pain interference using a modified version of Brief Pain Inventory and factors exacerbating and relieving pain. Sixty-nine per cent of the adolescents reported pain during the past three months and 50% reported chronic pain. The pain prevalence did not differ significantly between diagnostic groups or between ambulators and non-ambulators. The average pain intensity was graded as mild and the worst pain as moderate. The pain typically occurred weekly, most frequently in the neck/back or legs. General activity and mood were the areas that were most affected by pain. Common pain-exacerbating factors were sitting, too much movement/activity and being lifted or transferred. Pain is a frequent problem in adolescents with spinal muscular atrophy and dystrophinopathy. The assessments used enable an understanding both of the nature and scope of pain and of the impact of pain in everyday life. The study highlights the importance of assessing pain in a systematic manner and offering an individual approach to interventions designed to reduce pain in this population. Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Quantitative analysis of muscular wastings of lower limbs in Duchenne muscular dystrophy by computed tomography

International Nuclear Information System (INIS)

Horikawa, Hirosei; Konagaya, Masaaki; Takayanagi, Tetsuya; Otsuji, Hideaki

1985-01-01

We quantitatively evaluated the muscular wastings of lower extremities in Duchenne muscular dystrophy (DMD) by computed tomography (CT). The subjects were 21 cases of DMD (an ambulant case and 20 wheelchair-ridden cases, ages ranging from 10 to 21 years old) and 4 control males. The CT scan was carried out at the mid-level between lesser trochanter and medial condyle of femur and the largest diameter level of lower leg. The density and the cross-sectional area of each muscle were measured on the CT image. The average CT number of normal muscle was varying from 40 to 60, as well as that of fat was -115. Then we calculated CT index of each muscle denoted as follows: CT index = [average CT number of muscle-(-115)] X(cross-sectional area of each muscle). The measurements of muscle strength and serum CK level were performed and their relationships to CT index were examined. The results were achieved as follows: 1) Wheelchair-ridden cases with DMD showed severe decrease in the average CT number and the CT index of each muscle with normal controls. With progression, the average CT number and the CT index were reduced. But gracilis muscle and sartorius muscle were relatively spared in comparison with other muscles. 2) There was positive correlation between the CT index and the muscle strength in triceps surae muscle, hamstrings muslce and quardriceps femoris muscle. 3) The CT index of whole thigh muscles and that of whole lower leg muscles were highly correlated to serum CK level. These results suggest that the quantitative analysis of muscle CT is an useful measurement for assessement of muscular wastings in DMD. (author)

Clinico-epidemiologic characteristics of spinal muscular atrophy ...

African Journals Online (AJOL)

Rabah M. Shawky

Deletion;. Chromosome 5;. Mutations. Abstract Spinal muscular atrophy (SMA) is characterized by progressive hypotonia and muscular weakness because of progressive degeneration of alpha motor neuron from anterior horn cells in the spinal cord. It is inherited by an autosomal recessive pattern. The precise frequency of ...

Preimplantation genetic diagnosis of spinal muscular atrophy

NARCIS (Netherlands)

Dreesen, JCFM; Bras, M; de Die-Smulders, C; Dumoulin, JCM; Cobben, JM; Evers, JLH; Smeets, HJM; Geraedts, JPM

After Duchenne muscular dystrophy, spinal muscular atrophy (SMA) is the most common severe neuromuscular disease in childhood. Since 1995, homozygous deletions in exon 7 of the survival motor neuron (SMN) gene have been described in >90-95% of SMA patients. However, the presence of a highly

Facioscapulohumeral muscular dystrophy

Science.gov (United States)

... There is no known cure for facioscapulohumeral muscular dystrophy. Treatments are given to control symptoms and improve quality of life. Activity is encouraged. Inactivity such as bedrest can make the muscle disease worse. Physical therapy may help maintain muscle ...

Three-dimensional brain-surface MR images of brain anomalies in Fukuyama congenital muscular dystrophy and its differentiation from Duchenne muscular dystrophy with severe mental retardation

Energy Technology Data Exchange (ETDEWEB)

Toda, Tatsushi; Watanabe, Toshiaki; Shimizu, Teruo; Iwata, Makoto; Kanazawa, Ichiro (Tokyo Univ. (Japan). Faculty of Medicine); Matsumura, Kiichiro

1993-12-01

Fukuyama congenital muscular dystrophy (FCMD) is the second most common form of muscular dystrophy in Japan and is peculiarly associated with brain anomalies such as micropolygyria. Since these anomalies are preferentially observed on the brain surface, it is difficult to identify them by either X-ray CT or conventional MRI. In addition, FCMD has an atypical (mild) form in which the patients are capable of walking. In such cases, clinical differential diagnosis from Duchenne muscular dystrophy with severe mental retardation (DMD-MR) is not necessarily easy. We analyzed the brain-surface structures of 4 typical FCMD cases. 1 atypical FCMD case, 4 DMD-MR cases, and 1 undiagnosed case using a method of 3-dimensional (3-D) brain-surface MR imaging; we then compared the results with dystrophin immuno-stainings of the biopsied skeletal muscles. In both typical and atypical FCMD cases, micropolygyria could be clearly demonstrated, with individual variations. The 3-D images were verified by neuropathology. Of the 4 DMD-MR cases, 3 cases showed no gyral abnormality. However, in 1 DMD-MR case the diagnosis was corrected to atypical FCMD because of micropolygyria found on 3-D MRI. The one undiangosed case was diagnosed as DMD-MR on the basis of 3-D MRI. There was a good correspondence between the results of the 3-D imaging and the dystrophin test. Recently, some FCMD cases with a complete deficiency of dystrophin have been reported. Therefore, the detection of brain anomalies is important for the precise diagnosis of FCMD; the present method is considered effective for this purpose. (author).

Three-dimensional brain-surface MR images of brain anomalies in Fukuyama congenital muscular dystrophy and its differentiation from Duchenne muscular dystrophy with severe mental retardation

International Nuclear Information System (INIS)

Toda, Tatsushi; Watanabe, Toshiaki; Shimizu, Teruo; Iwata, Makoto; Kanazawa, Ichiro; Matsumura, Kiichiro.

1993-01-01

Fukuyama congenital muscular dystrophy (FCMD) is the second most common form of muscular dystrophy in Japan and is peculiarly associated with brain anomalies such as micropolygyria. Since these anomalies are preferentially observed on the brain surface, it is difficult to identify them by either X-ray CT or conventional MRI. In addition, FCMD has an atypical (mild) form in which the patients are capable of walking. In such cases, clinical differential diagnosis from Duchenne muscular dystrophy with severe mental retardation (DMD-MR) is not necessarily easy. We analyzed the brain-surface structures of 4 typical FCMD cases. 1 atypical FCMD case, 4 DMD-MR cases, and 1 undiagnosed case using a method of 3-dimensional (3-D) brain-surface MR imaging; we then compared the results with dystrophin immuno-stainings of the biopsied skeletal muscles. In both typical and atypical FCMD cases, micropolygyria could be clearly demonstrated, with individual variations. The 3-D images were verified by neuropathology. Of the 4 DMD-MR cases, 3 cases showed no gyral abnormality. However, in 1 DMD-MR case the diagnosis was corrected to atypical FCMD because of micropolygyria found on 3-D MRI. The one undiangosed case was diagnosed as DMD-MR on the basis of 3-D MRI. There was a good correspondence between the results of the 3-D imaging and the dystrophin test. Recently, some FCMD cases with a complete deficiency of dystrophin have been reported. Therefore, the detection of brain anomalies is important for the precise diagnosis of FCMD; the present method is considered effective for this purpose. (author)

Computed tomographic findings in manifesting carriers of Duchenne muscular dystrophy

NARCIS (Netherlands)

de Visser, M.; Verbeeten, B.

1985-01-01

Clinical and computed tomographic (CT) findings in 3 manifesting carriers of Duchenne muscular dystrophy are reported. CT proved to be an important adjunct to the clinical examination: in all our 3 cases a decrease in density was found in various non-paretic muscles

Use of palatally inserted mini-screw for upper molar distalization: A case series

Directory of Open Access Journals (Sweden)

Valliollah Arash

2015-09-01

Full Text Available  Abstract Reports have shown that molars can be distalized successfully with virtually no orthodontic anchorage loss with an intraosseous anchorage, even with fully erupted second molars. The purpose of this study was evaluating the effects of mini-screws as skeletal anchorage for upper molar distalization. In this case series, three patients needing maxillary first molar distalization, were selected. mini-screw was inserted in the anterior part of the palate. The screws were anchored to the first premolars by transpalatal arch and immediately loaded (150-160 g by 0.018-inch arch-wire and steel open-coil spring to distalize maxillary molars. The skeletal and dental changes were measured on cephalograms obtained before and after distalization. The amount of first molar distalization in the patients was 4 mm with 2°of tipping, 4 mm with 5°of tipping, and 3.5 mm with 2°of tipping respectively. Upper incisors and first premolars were stable during distalization.       

Estruturas elásticas e fadiga muscular

OpenAIRE

Kronbauer, Gláucia Andreza; Castro, Flávio Antônio de Souza

2013-01-01

A fadiga muscular pode ser definida pela incapacidade de manter certa tarefa ao longo do tempo; os mecanismos neuromusculares e metabólicos envolvidos na contração muscular estão diretamente associados a esse fenômeno. Este estudo bibliográfico busca descrever as alterações nos elementos contráteis e elásticos envolvidos na contração muscular e sua relação com o desempenho na locomoção. As estruturas contráteis são aquelas que desenvolvem força ativa com gasto de energia metabólica - mecanism...

Experimental investigation of muscular neurotization in the rat.

Science.gov (United States)

Must, R

1987-01-01

Reinnervation of a free muscle graft by nerves from an adjacent intact muscle is called muscular neurotization. This paper investigates the mechanisms and stimuli responsible for muscular neurotization in the rat. Sternohyoid or sternomastoid muscles were transplanted as free muscle grafts to the ventral surface of an intact sternohyoid muscle (feeder muscle). After several weeks the graft and underlying feeder muscle were removed together, frozen, serially sectioned, stained, and carefully examined for the presence or absence of nerves. It was concluded from a series of experiments that in this model muscular neurotization is a form of nerve regeneration. In order for muscular neurotization to occur, it is necessary to have (1) injury to the nerves of the intact feeder muscle and (2) a pathway upon which the regenerating nerves may grow into the graft.

Mechanisms and assessment of statin-related muscular adverse effects

Science.gov (United States)

Moßhammer, Dirk; Schaeffeler, Elke; Schwab, Matthias; Mörike, Klaus

2014-01-01

Statin-associated muscular adverse effects cover a wide range of symptoms, including asymptomatic increase of creatine kinase serum activity and life-threatening rhabdomyolysis. Different underlying pathomechanisms have been proposed. However, a unifying concept of the pathogenesis of statin-related muscular adverse effects has not emerged so far. In this review, we attempt to categorize these mechanisms along three levels. Firstly, among pharmacokinetic factors, it has been shown for some statins that inhibition of cytochrome P450-mediated hepatic biotransformation and hepatic uptake by transporter proteins contribute to an increase of systemic statin concentrations. Secondly, at the myocyte membrane level, cell membrane uptake transporters affect intracellular statin concentrations. Thirdly, at the intracellular level, inhibition of the 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase results in decreased intracellular concentrations of downstream metabolites (e.g. selenoproteins, ubiquinone, cholesterol) and alteration of gene expression (e.g. ryanodine receptor 3, glycine amidinotransferase). We also review current recommendations for prescribers. PMID:25069381

Metabolismo muscular en el ejercicio

OpenAIRE

Martín Martín, Laura

2017-01-01

Fundamentos: Cada vez son más las personas que realizan algún tipo de actividad física, pero pocas son las que poseen un verdadero conocimiento de los procesos que se desencadenan a nivel muscular y la influencia de la alimentación en la misma. El objetivo de este trabajo es ofrecer información de manera general sobre el metabolismo muscular. Métodos: Revisión bibliográfica de artículos y documentos consultando bases de datos y libros. La mayor parte del análisis ha sido ext...

Toxic myopathies: muscle biopsy features Miopatia tóxica: biópsia muscular

Directory of Open Access Journals (Sweden)

Rosana Herminia Scola

2007-03-01

Full Text Available Several drugs and toxic substances can cause muscular abnormalities and are frequent causes of acquired myopathies. We present a series of 32 patients, predominance of young adult patients, diagnosed with toxic myopathy. The most common substances inducing myopathy were corticosteroids (56.2% followed by the propoxyphene, neuroleptics, zidovudine and drug-induced hypokalemia. The investigation showed normal serum creatine kinase levels in 65.4%, myopathic pattern of the needle electromyography in 40% and the more frequent histological diagnosis of the muscle biopsy was type 2 fiber atrophy (59.3%. Clinical features, etiology, course of the disease, serum levels of muscular enzymes, electromyographic features and, especially, muscle biopsy features are discussed.Diversos medicamentos e substâncias tóxicas podem causar alterações musculares e são causas freqüentes de miopatia adquirida. Apresentamos uma série de 32 pacientes, predomínio de pacientes adulto jovens, com miopatia tóxica. As substâncias mais relacionadas com a miopatia foram os corticosteróides (56,2% seguidos pelo propoxifeno, neurolépticos, zidovudina e drogas indutoras de hipocalemia. A investigação mostrou níveis normais de creatino quinase sérica em 65,4%, eletromiografia de agulha com padrão miopático em 40% e o mais freqüente diagnóstico histológico da biópsia muscular foi atrofia de fibras do tipo 2 (59,3%. As manifestações clínicas, etiologia, tempo de evolução, nível sérico das enzimas musculares, alterações da eletroneuromiografia e, especialmente, da biópsia muscular são discutidos.

Importância do camundongo mdx na fisiopatologia da distrofia muscular de Duchenne The importance of mdx mouse in the pathophysiology of Duchenne's muscular distrophy

Directory of Open Access Journals (Sweden)

Sandra Lopes Seixas

1997-09-01

Full Text Available O camundongo mdx desenvolve distrofia muscular recessiva ligada ao cromossoma X (locus Xp21.1 e não expressa distrofina. Embora não apresente intensa fibrose do tecido muscular e acúmulo de tecido adiposo, é considerado o modelo animal mais adequado da distrofia muscular de Duchenne. As alterações estruturais no tecido muscular associadas à mionecrose e presença do infiltrado inflamatório com predomínio de linfócitos e monócitos/macrófagos sugerem uma participação do sistema imunológico nesta miopatia. Além disso a modulação na expressão dos componentes da matriz extracelular no microambiente muscular nas várias fases da doença (início, mionecrose, regeneração indicam um papel importante do conjuntivo no direcionamento das células inflamatórias para o foco da lesão muscular. O camundongo mdx coloca-se como um excelente modelo para o estudo dos mecanismos patogenéticos da mionecrose e regeneração na distrofia muscular de Duchenne, possibilitando inclusive o desenvolvimento de estratégias terapêuticas mais adequadas.The mdx mouse develop an X-linked recessive muscular dystrophy (locus Xp21.1 and lack dystrophin expression. Despite showing less intense myofibrosis and scarce deposition of fatty tissue, mdx mice are considered an adequate animal model for studies on the pathogenesis of Duchenne-type muscular dystrophy. Marked histological alterations in the muscular tissues associated to myonecrosis and inflammatory mononuclear cell infiltrate (lymphocytes, monocytes/macrophages suggest a participation of the immune system in this myopathy. Modulation of the extracellular matrix (ECM components in the muscular tissue during all phases (onset, myonecrosis and regeneration of disease, indicate an important role for the ECM driving inflammatory cells to the foci of lesion. Therefore mdx mice should be regarded as an important tool for studies on pathogenetic mechanisms of Duchenne-type muscular dystrophy. Such

Distal vertebral artery reconstruction when managing vertebrobasilar insufficiency

Directory of Open Access Journals (Sweden)

D. M. Galaktionov

2017-11-01

Full Text Available This article presents a literature review devoted to the reconstruction of the distal vertebral artery and a clinical case of successful surgical treatment of a patient suffering from vertebrobasilar insufficiency caused by occlusion of the vertebral artery in a proximal segment. The external carotid artery-distal vertebral artery bypass was performed by using the radial artery.Received 27 February 2017. Revised 25 July 2017. Accepted 3 August 2017.Funding: The study did not have sponsorship.Conflict of interest: The authors declare no conflict of interest. 

The Clinical Observation on one case of Patient with Progressive Muscular Dystrophies

Directory of Open Access Journals (Sweden)

Yoo, Chang-Kil

2000-12-01

Full Text Available After observing a patient diagnosed with Progressive Muscular Dystropies from the August, 31, 2000 to the January, 2001, the following results are obtained. Method and Result: Under our assumption that the Korean Bee Venom Therapy is a good method to treat Progress Muscular Dystropies. Korean Bee Venom Therapy was applied on the following acupuncture points: BL23(Shinsu:腎兪, BL26(Guanyuanshu:關元兪, ST36(Chok-Samni:足三里, LI4(Hapkok:合谷, LV3(Taechung:太, SP10(Hyolhae:血海, SI9(Sojang-Kyonjong:貞. In addition CFC(Carthami Flos;紅花: and Cervi Pantotrichum Cornu; Herbal-Acupuncture is also treated on the other acupuncture points. For herbal medication was given to the patient based on the Sasang Constitution, Taeyangin Ogapijangchuk-tang. Following these treatments in this case of Progressive Muscular Dystropies, the skeletal muscle functions made remarkable improvement. Conclusion: Based on the clinical results, traditional Korean Medical treatment is believed to be effective for treating Progressive Muscular Dystropies, and further studies should be conducted to provide more valuable information.

Vertebral artery origin stent placement with distal protection: technical and clinical results.

Science.gov (United States)

Qureshi, A I; Kirmani, J F; Harris-Lane, P; Divani, A A; Ahmed, S; Ebrihimi, A; Al Kawi, A; Janjua, N

2006-05-01

To report the feasibility, safety, and 1-month results of performing stent placement for vertebral origin stenosis with the use of a distal protection device. Distal protection devices have been shown to reduce the number of cerebral emboli and subsequent ischemic events when used as adjuncts to percutaneous carotid intervention; however, one case of the use of a distal protection device for vertebral artery has been reported in the literature. We retrospectively determined rates of technical success and 1-month stroke or death associated with stent placement by using distal protection (Filter EX; Boston Scientific, Natick, Mass) in patients with symptomatic vertebral artery origin stenosis. Technical success was defined as successful deployment of distal protection device and stent at target lesion followed by successful retrieval of the device and a final residual stenosis of less than 30%. Other outcomes ascertained included any stroke, death, and semiquantitative assessment of particulate material retained by the filter device. The mean age of the 12 treated patients was 68 years (range, 52-88 years) and the group included 9 men and 3 women. The mean percentage of vertebral artery origin stenosis was 71 +/- 6%. Femoral and radial approaches were used in 9 and 3 cases, respectively. Technical success was achieved in 11 of the 12 patients in whom distal protection device placement was attempted. Postprocedure residual stenosis was 5 +/- 4%. Eight devices held macroscopically visible embolic debris (large and small amounts in 3 and 5 devices, respectively). No stroke or death was observed in the 1-month follow-up. The present study demonstrates the feasibility of performing stent placement for vertebral artery origin stenosis by using a distal protection device. Further studies are required to determine the effectiveness of this approach for vertebral artery origin atherosclerosis.

Locking plates in distal humerus fractures: study of 43 patients

Directory of Open Access Journals (Sweden)

Gupta Rakesh Kumar

2013-08-01

Full Text Available 【Abstract】Objective: The treatment of multi-fragmentary, intraarticular fractures of the distal humerus is difficult, even in young patients with bone of good quality. Small distal fragment, diminished bone mineral quality and increased trauma-associated joint destruction make stable joint reconstruction more problematic. The anatomically preshaped locking plates allow angular stable fixation for these complex fractures. We evaluated functional results of patients treated with open reduction and internal fixation with distal humerus locking plates for complex distal hu-merus fractures. Methods: Forty-three consecutive patients with ar-ticular fractures of the distal humerus were treated by open reduction and internal fixation with AO distal humerus plate system and locking reconstruction plates. Forty patients were available for the final outcome analysis. According to AO/ASIF classification, there were 2 cases of type A2, 4 cases of type A3, 1 case of type B1, 1 case of type B2, 14 cases of type C1, 7 cases of type C2 and 11 cases of type C3. Open reduction with triceps splitting technique was used in all patients. The clinical and radiographic follow-up was performed and outcome measures included pain assessment, range of motion, and Mayo elbow performance score. Results: Forty patients were available for the final outcome analysis. There were 29 males and 11 females with an average age of 38.4 years (18-73 years. Clinical and ra-diological consolidation of the fracture was observed in all cases at an average of 11.6 weeks (9-14 weeks. The average follow-up was 12 months (10-18 months. Using the Mayo elbow performance score the results obtained were graded as excellent or good results in 33 patients (82.5%. One pa-tient had superficial infection, and 4 had myositis ossificans. There were no cases of primary malposition or secondary displacement, implant failure or ulnar neuropathy. Conclusion: Anatomically preshaped distal humerus locking

Dysfunction of the neuromuscular junction in spinal muscular atrophy types 2 and 3.

Science.gov (United States)

Wadman, Renske I; Vrancken, Alexander F J E; van den Berg, Leonard H; van der Pol, W Ludo

2012-11-13

Spinal muscular atrophy (SMA) is pathologically characterized by degeneration of anterior horn cells. Recent observations in animal models of SMA and muscle tissue from patients with SMA suggest additional abnormalities in the development and maturation of the neuromuscular junction. We therefore evaluated neuromuscular junction function in SMA with repetitive nerve stimulation. In this case-control study, repetitive nerve stimulation was performed in 35 patients with SMA types 2, 3, and 4, 20 healthy controls, and 5 controls with motor neuron disease. Pathologic decremental responses (>10%) during 3-Hz repetitive nerve stimulation were observed in 17 of 35 patients (49%) with SMA types 2 and 3, but not in healthy controls or controls with motor neuron disease. None of the patients or controls had an abnormal incremental response of >60%. The presence of an abnormal decremental response was not specific for the type of SMA, nor was it associated with compound muscle action potential amplitude, clinical scores, or disease duration. Two of 4 patients with SMA type 3 who tried pyridostigmine reported increased stamina. These data suggest dysfunction of the neuromuscular junction in patients with SMA types 2 and 3. Therefore, drugs that facilitate neuromuscular transmission are candidate drugs for evaluation in carefully designed, placebo-controlled, clinical trials.

Distal antebrachial fractures in toy-breed dogs

International Nuclear Information System (INIS)

Muir, P.

1997-01-01

Antebrachial fractures account for approximately 17% of all canine fractures, with motor vehicle trauma cited as one of the primary causes. However, antebrachial fractures in toy-breed dogs are often sustained after apparently minimal trauma, such as jumping or falling, and are usually distal. The cause of antebrachial fractures in toy breeds is not well understood. Complications after treatment of distal antebrachial fractures in toy-breed dogs, including delayed union, nonunion, and malunion, are common and are potentially serious because they may necessitate limb amputation. This article reports on distal antebrachial fractures in 26 toy-breed dogs that wee presented to the University of California, Davis, Veterinary Medical Teaching Hospital from April 1987 to March 1996. The author found that (1) these fractures typically occur in growing or adolescent dogs; (2) the presence of complications of union is typically associated with prior treatment using intramedullary pinning or external coaptation; and (3) successful healing of this type of fracture is obtained via rigid stabilization with bone plating in combination with cancellous bone autograft

Classification of Distal Fingertip Amputation Based on the Arterial System for Replantation

OpenAIRE

Park, Hyun Chul; Bahar-Moni, Ahmed Suparno; Cho, Sang Hyun; Kim, Sang Soo; Park, Hyun Sik; Ahn, Sang Cheon

2012-01-01

During replantation of distal fingertip amputation, identification of the artery is the most important but time consuming procedure. Depending on the damaged arterial structure, we classified distal fingertip amputations into 4 zones, on the basis of three dimensional concept. Zone 1 injury was defined as damage to the proximal central pulp artery; zone 2 injury, damage to the branch of the central pulp artery; zone 3 injury, damage to the distal central pulp artery; and zone 4 injury, no inj...

Validation of 2 noninvasive, markerless reconstruction techniques in biplane high-speed fluoroscopy for 3-dimensional research of bovine distal limb kinematics.

Science.gov (United States)

Weiss, M; Reich, E; Grund, S; Mülling, C K W; Geiger, S M

2017-10-01

Lameness severely impairs cattle's locomotion, and it is among the most important threats to animal welfare, performance, and productivity in the modern dairy industry. However, insight into the pathological alterations of claw biomechanics leading to lameness and an understanding of the biomechanics behind development of claw lesions causing lameness are limited. Biplane high-speed fluoroscopic kinematography is a new approach for the analysis of skeletal motion. Biplane high-speed videos in combination with bone scans can be used for 3-dimensional (3D) animations of bones moving in 3D space. The gold standard, marker-based animation, requires implantation of radio-opaque markers into bones, which impairs the practicability for lameness research in live animals. Therefore, the purpose of this study was to evaluate the comparative accuracy of 2 noninvasive, markerless animation techniques (semi-automatic and manual) in 3D animation of the bovine distal limb. Tantalum markers were implanted into each of the distal, middle, and proximal phalanges of 5 isolated bovine distal forelimbs, and biplane high-speed x-ray videos of each limb were recorded to capture the simulation of one step. The limbs were scanned by computed tomography to create bone models of the 6 digital bones, and 3D animation of the bones' movements were subsequently reconstructed using the marker-based, the semi-automatic, and the manual animation techniques. Manual animation translational bias and precision varied from 0.63 ± 0.26 mm to 0.80 ± 0.49 mm, and rotational bias and precision ranged from 2.41 ± 1.43° to 6.75 ± 4.67°. Semi-automatic translational values for bias and precision ranged from 1.26 ± 1.28 mm to 2.75 ± 2.17 mm, and rotational values varied from 3.81 ± 2.78° to 11.7 ± 8.11°. In our study, we demonstrated the successful application of biplane high-speed fluoroscopic kinematography to gait analysis of bovine distal limb. Using the manual animation technique, kinematics

Fishtail deformity - a delayed complication of distal humeral fractures in children

Energy Technology Data Exchange (ETDEWEB)

Narayanan, Srikala [Massachusetts General Hospital, Department of Radiology, Division of Pediatric Imaging, Boston, MA (United States); University of Pittsburgh Medical Center, Department of Radiology, Pittsburgh, PA (United States); Shailam, Randheer; Nimkin, Katherine [Massachusetts General Hospital, Department of Radiology, Division of Pediatric Imaging, Boston, MA (United States); Grottkau, Brian E. [Massachusetts General Hospital, Department of Orthopaedics, Pediatric Orthopaedics, Boston, MA (United States)

2015-06-15

Concavity in the central portion of the distal humerus is referred to as fishtail deformity. This entity is a rare complication of distal humeral fractures in children. The purpose of this study is to describe imaging features of post-traumatic fishtail deformity and discuss the pathophysiology. We conducted a retrospective analysis of seven cases of fishtail deformity after distal humeral fractures. Seven children ages 7-14 years (five boys, two girls) presented with elbow pain and history of distal humeral fracture. Four of the seven children had limited range of motion. Five children had prior grade 3 supracondylar fracture treated with closed reduction and percutaneous pinning. One child had a medial condylar fracture and another had a lateral condylar fracture; both had been treated with conservative casting. All children had radiographs, five had CT and three had MRI. All children had a concave central defect in the distal humerus. Other imaging features included joint space narrowing with osteophytes and subchondral cystic changes in four children, synovitis in one, hypertrophy or subluxation of the radial head in three and proximal migration of the ulna in two. Fishtail deformity of the distal humerus is a rare complication of distal humeral fractures in children. This entity is infrequently reported in the radiology literature. Awareness of the classic imaging features can result in earlier diagnosis and appropriate treatment. (orig.)

Fishtail deformity - a delayed complication of distal humeral fractures in children

International Nuclear Information System (INIS)

Narayanan, Srikala; Shailam, Randheer; Nimkin, Katherine; Grottkau, Brian E.

2015-01-01

Concavity in the central portion of the distal humerus is referred to as fishtail deformity. This entity is a rare complication of distal humeral fractures in children. The purpose of this study is to describe imaging features of post-traumatic fishtail deformity and discuss the pathophysiology. We conducted a retrospective analysis of seven cases of fishtail deformity after distal humeral fractures. Seven children ages 7-14 years (five boys, two girls) presented with elbow pain and history of distal humeral fracture. Four of the seven children had limited range of motion. Five children had prior grade 3 supracondylar fracture treated with closed reduction and percutaneous pinning. One child had a medial condylar fracture and another had a lateral condylar fracture; both had been treated with conservative casting. All children had radiographs, five had CT and three had MRI. All children had a concave central defect in the distal humerus. Other imaging features included joint space narrowing with osteophytes and subchondral cystic changes in four children, synovitis in one, hypertrophy or subluxation of the radial head in three and proximal migration of the ulna in two. Fishtail deformity of the distal humerus is a rare complication of distal humeral fractures in children. This entity is infrequently reported in the radiology literature. Awareness of the classic imaging features can result in earlier diagnosis and appropriate treatment. (orig.)

Distal Insertional Footprint of the Brachialis Muscle: 3D Morphometric Study

Directory of Open Access Journals (Sweden)

Srinath Kamineni

2015-01-01

Full Text Available Objective. The purpose of this study is to describe the three-dimensional morphometry of the brachialis muscle at its distal attachment to the ulna. Methods. Fifty cadaveric elbows were dissected and the brachialis distal insertion was isolated on the ulna bone and probed with a three-dimensional digitizer, to create a three-dimensional model of the footprint. Measurements and analysis of each footprint shape were recorded and compared based on gender and size. Results. There was significant gender difference in the surface length (P= 0.002 and projected length (P= 0.001 of the brachialis footprint. The shapes of the footprint also differed among the specimens. Conclusion. The shape of the brachialis muscle insertion differed among all the specimens without significant variation in gender or sides. There was also a significant difference in muscle length between males and females with little difference in the width and surface area. Significance. The information obtained from this study is important for kinematic understanding and surgical procedures around the elbow joint as well as the understanding of the natural age related anatomy of the brachialis footprint morphology.

Roentgenological findings in muscular alterations of extremities

International Nuclear Information System (INIS)

Palvoelgyi, R.

1978-01-01

A survey of roentgenological findings in muscular alterations of extremities based on the author's experiences and on the literature is presented. Following a description of the normal roentgen anatomy, the alterations in different diseases of interstitial lipomatosis are demonstrated. By roentgenological examinations differt muscular lesions of the extremities can be differentiated and the clinical follow-up verified. (orig.) [de

Intra-Operative Amylase Concentration in Peri-Pancreatic Fluid Predicts Pancreatic Fistula After Distal Pancreatectomy.

Science.gov (United States)

Nahm, Christopher B; de Reuver, Philip R; Hugh, Thomas J; Pearson, Andrew; Gill, Anthony J; Samra, Jaswinder S; Mittal, Anubhav

2017-06-01

Post-operative pancreatic fistula (POPF) is a potentially severe complication following distal pancreatectomy. The aim of this study was to assess the predictive value of intra-operative amylase concentration (IOAC) in peri-pancreatic fluid after distal pancreatectomy for the diagnosis of POPF. Consecutive patients who underwent a distal pancreatectomy between November 2014 and September 2016 were included in the analysis. IOAC was measured, followed by drain fluid analysis for amylase on post-operative days (PODs) 1, 3, and 5. Receiver operator characteristic (ROC) analysis was performed to evaluate the discriminative capacity of IOAC as a predictor of POPF. IOAC was measured after distal pancreatectomy in 26 patients. The IOAC correlated significantly with (i) PODs 1, 3, and 5 drain amylase (p  1000 experienced a post-operative complication (OR 18.3, 95% CI 2.51-103, p pancreatectomy.

Study on Oneself Developed to Apparatus Position of Measurement of BMD in the Distal Radius

International Nuclear Information System (INIS)

Han, Man Seok; Song, Jae Yong; Lee, Hyun Kuk; Yu, Se Jong; Kim, Yong Kyun

2009-01-01

The aim of this study was to evaluate the difference of bone mineral density according to distal radius rotation and to develop the supporting tool to measure rotation angles. CT scanning and the measurement of BMD by DXA of the appropriate position of the forearm were performed on 20 males. Twenty healthy volunteers without any history of operations, anomalies, or trauma were enrolled. The CT scan was used to evaluate the cross sectional structure and the rotation angle on the horizontal plane of the distal radius. The rotational angle was measured by the m-view program on the PACS monitor. The DXA was used in 20 dried radii of cadaveric specimens in pronation and supination with five and ten degrees, respectively, including a neutral position (zero degrees) to evaluate the changes of BMD according to the rotation. The mean rotation angle of the distal radius on CT was 7.4 degrees of supination in 16 cases (80%), 3.3 degrees of pronation in three cases (15%), and zero degree of neutral in one case (9%), respectively. The total average rotation angle in 20 people was 5.4 degrees of supination. In the cadaveric study, the BMD of the distal radius was different according to the rotational angles. The lowest BMD was obtained at 3.3 degrees of supination. In the case of the measurement of BMD in the distal radius with a neutral position, the rotational angle of the distal radius is close to supination. Pronation is needed for the constant measurement of BMD in the distal radius with the rotation angle measuring at the lowest BMD and about five degrees of pronation of the distal radius is recommended.

Becker muscular dystrophy-like myopathy regarded as so-called "fatty muscular dystrophy" in a pig: a case report and its diagnostic method.

Science.gov (United States)

Horiuchi, Noriyuki; Aihara, Naoyuki; Mizutani, Hiroshi; Kousaka, Shinichi; Nagafuchi, Tsuneyuki; Ochiai, Mariko; Ochiai, Kazuhiko; Kobayashi, Yoshiyasu; Furuoka, Hidefumi; Asai, Tetsuo; Oishi, Koji

2014-03-01

We describe a case of human Becker muscular dystrophy (BMD)-like myopathy that was characterized by the declined stainability of dystrophin at sarcolemma in a pig and the immunostaining for dystrophin on the formalin-fixed, paraffin-embedded (FFPE) tissue. The present case was found in a meat inspection center. The pig looked appeared healthy at the ante-mortem inspection. Muscular abnormalities were detected after carcass dressing as pale, discolored skeletal muscles with prominent fat infiltrations and considered so-called "fatty muscular dystrophy". Microscopic examination revealed following characteristics: diffused fat infiltration into the skeletal muscle and degeneration and regeneration of the remaining skeletal muscle fibers. Any lesions that were suspected of neurogenic atrophy, traumatic muscular degeneration, glycogen storage disease or other porcine muscular disorders were not observed. The immunostaining for dystrophin was conducted and confirmed to be applicable on FFPE porcine muscular tissues and revealed diminished stainability of dystrophin at the sarcolemma in the present case. Based on the histological observations and immunostaining results, the present case was diagnosed with BMD-like myopathy associated with dystrophin abnormality in a pig. Although the genetic properties were not clear, the present BMD-like myopathy implied the occurrence of dystrophinopathy in pigs. To the best of our knowledge, this is the first report of a natural case of myopathy associated with dystrophin abnormalities in a pig.

Fat embolism after fractures in Duchenne muscular dystrophy: an underdiagnosed complication? A systematic review

Directory of Open Access Journals (Sweden)

Feder D

2017-10-01

Full Text Available David Feder,1 Miriam Eva Koch,1 Beniamino Palmieri,2 Fernando Luiz Affonso Fonseca,1 Alzira Alves de Siqueira Carvalho3 1Pharmacology Department, Faculdade de Medicina do ABC, Santo André, São Paulo, Brazil; 2Department of General Surgery and Surgical Specialties, University of Modena and Reggio Emilia Medical School, Surgical Clinic, Modena, Italy; 3Neuroscience Department, Faculdade de Medicina do ABC, Santo André, São Paulo, Brazil Abstract: Duchenne muscular dystrophy is the most frequent lethal genetic disease. Several clinical trials have established both the beneficial effect of steroids in Duchenne muscular dystrophy and the well-known risk of side effects associated with their daily use. For many years it has been known that steroids associated with ambulation loss lead to obesity and also damage the bone structure resulting in the bone density reduction and increased incidence of bone fractures and fat embolism syndrome, an underdiagnosed complication after fractures. Fat embolism syndrome is characterized by consciousness disturbance, respiratory failure and skin rashes. The use of steroids in Duchenne muscular dystrophy may result in vertebral fractures, even without previous trauma. Approximately 25% of patients with Duchenne muscular dystrophy have a long bone fracture, and 1% to 22% of fractures have a chance to develop fat embolism syndrome. As the patients with Duchenne muscular dystrophy have progressive cardiac and respiratory muscle dysfunction, the fat embolism may be unnoticed clinically and may result in increased risk of death and major complications. Different treatments and prevention measures of fat embolism have been proposed; however, so far, there is no efficient therapy. The prevention, early diagnosis and adequate symptomatic treatment are of paramount importance. The fat embolism syndrome should always be considered in patients with Duchenne muscular dystrophy presenting with fractures, or an unexplained and

Repercussões da L-alanil-glutamina sobre as concentrações de lactato e lactato desidrogenase (LDH em pacientes com isquemia crítica dos membros inferiores submetidos a revascularização distal Repercussions of l-alanyl-glutamine upon the concentrations of lactate and lactate dehydrogenase (LDH in patients with critical ischemia of lower limbs subjected to distal revascularization

Directory of Open Access Journals (Sweden)

Wellington Forte Alves

2003-06-01

Full Text Available OBJETIVO: Investigar efeitos da L-alanil-glutamina nas concentrações musculares de lactato, e nas concentrações sanguíneas de LDH, em pacientes com isquemia crítica dos membros inferiores submetidos à revascularização distal. MÉTODOS: Dezesseis adultos (12-homens/4-mulheres foram distribuídos em 2 grupos (1-controle/2-estudo. Três horas após injeção endovenosa de 250 ml de L-alanil-glutamina a 20% adicionados a 750 ml de soro fisiológico (Grupo 2, ou 1000 ml de solução salina (Grupo 1, iniciava-se a revascularização, sob raquianestesia. Amostras musculares e de sangue (arterial/venoso foram coletadas no início do procedimento (TI, no final (TF, e 10 e 20 minutos após isquemia (T1/T2. RESULTADOS: Observou-se redução significante (pPURPOSE: Investigate the repercussions of L-alanyl-glutamine in muscular tissue concentrations of lactate, and venous and arterial blood concentrations of LDH, in patients with critical ischemia of the lower limbs submitted to distal revascularization. METHODS: Sixteen adults (12 male/4 female were distributed in 2 groups (1-Control/2-Experiment. Three hours after the intravenous injection of 250 ml of a 20% solution of L-alanyl-glutamine added to 750 ml of saline solution (Group 2; or 1000 ml of saline solution (Group 1, distal bypass was carried out under spinal anesthesia. Muscle and blood samples (arterial/venous were collected at the beginning of the surgical procedure (TI, at the end (TF, and 10 and 20 minutes after re-establishment of blood flow. RESULTS: Significant reduction (p<0,05 of lactate concentration was observed in healthy muscle tissue in L-alanyl-glutamine treated patients in comparison to control group, at all times studied. There was a significant reduction (p <0,05 in venous concentrations of LDH in treated patients at all times studied (TI/TFV/T1V/T2V; and in arterial blood during reperfusion (T1A/T2A. CONCLUSIONS: 1. Decreased lactate concentrations in healthy skeletal

Childhood cardiorespiratory fitness, muscular fitness and adult measures of glucose homeostasis.

Science.gov (United States)

Fraser, Brooklyn J; Blizzard, Leigh; Schmidt, Michael D; Juonala, Markus; Dwyer, Terence; Venn, Alison J; Magnussen, Costan G

2018-02-14

To assess whether childhood cardiorespiratory fitness (CRF) and muscular fitness phenotypes (strength, power, endurance) predict adult glucose homeostasis measures. Prospective longitudinal study. Study examining participants who had physical fitness measured in childhood (aged 7-15 years) and who attended follow-up clinics approximately 20 years later and provided a fasting blood sample which was tested for glucose and insulin. Physical fitness measurements included muscular strength (right and left grip, shoulder flexion, shoulder and leg extension), power (standing long jump distance) and endurance (number of push-ups in 30s), and CRF (1.6km run duration). In adulthood, fasting glucose and insulin levels were used to derive glucose homeostasis measures of insulin resistance (HOMA2-IR) and beta cell function (HOMA2-β). A standard deviation increase in childhood CRF or muscular strength (males) was associated with fasting glucose (CRF: β=-0.06mmol/L), fasting insulin (CRF: β=-0.73mU/L; strength: β=-0.40mU/L), HOMA2-IR (CRF: β=-0.06; strength: β=-0.05) and HOMA2-β (CRF: β=-3.06%; strength: β=-2.62%) in adulthood, independent of the alternative fitness phenotype (all p0.06). CRF and muscular fitness in childhood were inversely associated with measures of fasting insulin, insulin resistance and beta cell function in adulthood. Childhood CRF and muscular fitness could both be potential independent targets for strategies to help reduce the development of adverse glucose homeostasis. Copyright © 2018 Sports Medicine Australia. Published by Elsevier Ltd. All rights reserved.

[Supplementary device for a dynamometer to evaluate and register muscular endurance indices].

Science.gov (United States)

Timoshenko, D A; Bokser, O Ia

1986-01-01

In practice of psychophysiologic research muscular endurance index is used for estimation of CNS function. Muscular endurance index is defined as relative time needed for maintaining the preset muscular effort. The described device widens the possibilities of a digital dynamometer for automatic estimation and recording of muscular endurance index in real time.

Dismorfia muscular e o uso de suplementos ergogênicos em desportistas

Directory of Open Access Journals (Sweden)

Litiane Dorneles de Lima

2010-12-01

Full Text Available A dismorfia muscular (DM é um transtorno da imagem corporal que acomete principalmente homens que, apesar da grande hipertrofia muscular, consideram-se pequenos e fracos. Tendo em vista o crescente uso de substâncias ergogênicas para o aumento de massa muscular e o elevado número de indivíduos com transtornos corporais, o objetivo deste trabalho foi avaliar a presença de DM e o uso de suplementos ergogênicos em desportistas frequentadores de academia. Foram avaliados 23 indivíduos do sexo masculino com média de idade de 24 ± 3,8 anos, praticantes de treinamento de força, com idades entre 18 e 35 anos. Para a avaliação corporal foi realizado o teste de bioimpedância, com o qual se obteve os dados de massa magra e gorda, respectivamente, de 66,5 ± 10,1kg e 10,5 ± 3,1kg. Para detectar o risco de DM, foi usada uma escala (MASS - Muscle Appearance Satisfaction Scale; se o resultado desta fosse acima de 52 pontos, estes apresentavam o risco de DM. Juntamente, foi respondido outro questionário para o conhecimento do uso de suplementos. A análise dos resultados identificou que, dos avaliados, 17,4% (n = 4 apresentaram risco positivo para o desenvolvimento deste transtorno corporal; porém, destes, apenas 25% declararam fazer uso de suplementos alimentares. Conclui-se que não houve relação entre o uso de suplementos e a presença de dismorfia muscular.

Muscular pathology: echographic and NMR imaging aspects

International Nuclear Information System (INIS)

Pascal-Suisse, P.; Beaurain, P.; Mougniot, C.

1995-01-01

A comparison of echographic techniques and NMR imaging has been done for the diagnosis of muscular trauma and tumor pathologies. In traumatic pathology, the echographic analysis allows to determine the complete assessment of recent muscular injuries. NMR imaging can be used in granuloma or fibrous callosity appreciation and for the analysis of deep injury (muscles and muscles-tendon junctions) and of muscular aponeurosis. Echography must be used together with color coding Doppler technique in the diagnosis of tumor pathology and for the study of slow fluxes. The recently available energy Doppler technique seems to be powerful in the study of vascularization of small expansive formations, but their extension to adjacent bone or tissue can only be appreciated using NMR imaging. (J.S.)

Drive for muscularity and social physique anxiety mediate the perceived ideal physique muscle dysmorphia relationship.

Science.gov (United States)

Thomas, Adam; Tod, David A; Edwards, Christian J; McGuigan, Michael R

2014-12-01

This study examined the mediating role of drive for muscularity and social physique anxiety (SPA) in the perceived muscular male ideal physique and muscle dysmorphia relationship in weight training men. Men (N = 146, mean ± SD; age, 22.8 ± 5.0 years; weight, 82.0 ± 11.1 kg; height, 1.80 ± 0.07 m; body mass index, 25.1 ± 3.0) who participated in weight training completed validated questionnaires measuring drive for muscularity, SPA, perceived muscular male ideal physique, global muscle dysmorphia, and several characteristics of muscle dysmorphia (exercise dependence, diet manipulation, concerns about size/symmetry, physique protection behavior, and supplementation). Perceived ideal physique was an independent predictor of muscle dysmorphia measures except physique protection (coefficients = 0.113-0.149, p ≤ 0.05). Perceived ideal physique also predicted muscle dysmorphia characteristics (except physique protection and diet) through the indirect drive for muscularity pathway (coefficients = 0.055-0.116, p ≤ 0.05). Perceived ideal physique also predicted size/symmetry concerns and physique protection through the indirect drive for muscularity and SPA pathway (coefficients = 0.080-0.025, p ≤ 0.05). These results extend current research by providing insights into the way correlates of muscle dysmorphia interact to predict the condition. The results also highlight signs (e.g., anxiety about muscularity) that strength and conditioning coaches can use to identify at-risk people who may benefit from being referred for psychological assistance.

Miopatia por corpos esferóides: relato de caso Spheroid body myopathy: case report

Directory of Open Access Journals (Sweden)

Rosana Hermínia Scola

2005-06-01

Full Text Available A miopatia por corpos esferóides é doença rara, classificada no grupo das miopatias congênitas relacionadas aos distúrbios da desmina; apresenta, em geral, origem autossômica dominante e com início dos sintomas na fase adulta. Relatamos o caso de menina de sete anos, com diparesia facial, hipotrofia e hipotonia muscular generalizadas, arreflexia profunda generalizada, força muscular proximal nos membros superiores e inferiores e distal dos membros superiores grau 3 e distal nos membros inferiores grau 1. A eletromiografia de agulha evidenciou recrutamento aumentado e potenciais de unidade motora de curta duração e baixa amplitude, caracterizando um padrão miopático. A biópsia muscular revelou padrão misto para miopatia e desinervação e presença de corpos esferóides intracitoplasmáticos compatíveis com a miopatia por corpos esferóides. No presente caso, a paciente apresentou precocemente o início dos sintomas e não há relatos de casos semelhantes na família.Spheroid body myopathy is a rare illness classified in the group of the congenital myopathies as a desmin-related neuromuscular disorder, presenting dominant autosomical origin with the beginning of the symptoms in the adult phase. We report on a seven years old girl with facial paresia, generalized muscular hypotrophy and hypotony, generalized deep areflexia, proximal upper and lower limbs muscular strengh and distal upper limbs grade 3 and distal lower limbs grade 1. Needle electromyography evidenced increased conscription and potentials of motor unit of short duration and low amplitude, characterizing a myopathic standard. The muscle biopsy disclosed mixed standard to myopathy, denervation and inclusion bodies that are consistent to spheroid body myopathy. In this case, the patient presented, in advance, early beginning of the symptoms and there are no similar cases in the family.

Is drive for muscularity related to body checking behaviors in men athletes?

Directory of Open Access Journals (Sweden)

Leonardo de Sousa Fortes

Full Text Available Abstract The aim of this study was to analyze the relationship between drive for muscularity and body checking behaviors in men athletes. Two hundred and twelve Brazilian athletes over 15 years of age participated. We used the Drive for Muscularity Scale (DMS to evaluate the drive for muscularity. The Male Body Checking Questionnaire was used to assess body checking behaviors. The findings demonstrated a relationship between the "body image-oriented muscularity" subscale of the DMS and body checking behaviors (p = 0.001. The results indicated differences in body checking among athletes with high and low levels of drive for muscularity. We concluded that drive for muscularity was related to body checking behaviors in men athletes.

Substantiation of health related power lifting training methodic for univeristies students with muscular skeletal apparatuse affections.

Directory of Open Access Journals (Sweden)

San. Zhen Qiang

2015-11-01

Full Text Available Purpose: substantiation of health related power lifting training methodic for universities students, who have disorders of muscular skeletal apparatus. Material: in experimental researches 126 students of 18-24 years’ age, having disorders of muscular skeletal apparatus, participated. With the help of testing we registered changes of students’ functional, physical and psycho-physiological fitness indicators. Results: optimal correlation of specific and non specific loads was found: 60% of specific and 40% of non specific. It is recommended to follow certain correlation of exercises in easy and complicated conditions: for first year students - 3:2; for second year students - 3:2; for third year - 2:3; for forth year - 2:3; for fifth year students - 1:3. Specific only for power lifting conditions and temps of students’ (with muscular skeletal apparatus affections functional, physical and psycho-physiological fitness improvement were determined. Conclusions: The requirements of the training methodic envisage correction of loads for bringing every indicator on proper level.

Distal insertions of the semimembranosus tendon: MR imaging with anatomic correlation

Energy Technology Data Exchange (ETDEWEB)

Maeseneer, Michel de [Universitair Ziekenhuis Brussel, Department of Radiology, Jette, Brussels (Belgium); Vrije Universiteit Brussel, Department of Experimental Anatomy, Brussels (Belgium); Shahabpour, Maryam; Milants, Annemieke; Ridder, Filip de; Mey, Johan de [Universitair Ziekenhuis Brussel, Department of Radiology, Jette, Brussels (Belgium); Lenchik, Leon [Wake Forest University, Department of Radiology, Winston-Salem, NC (United States); Cattrysse, Erik [Vrije Universiteit Brussel, Department of Experimental Anatomy, Brussels (Belgium)

2014-06-15

The purpose of this study is to investigate the distal insertions of the semimembranosus tendon with MR imaging, correlated with findings in cadavers. Four fresh cadaveric specimens were studied with 3-T MR imaging. Sequences included proton density (PD) sequences (TE, 13; TR, 4957; FOV, 170 x 170; matrix, 424 x 413; NA, 2; slice thickness, 2.5 mm) in the axial, coronal, and sagittal planes and 3D fast field echo (FFE) sequences (TR 9.4; TE 6.9; FOV, 159 x 105; matrix, 200 x 211; NA, 2; slice thickness, 0.57 mm). One specimen was dissected and three specimens were sectioned with a bandsaw in the axial, coronal, and sagittal plane. The sections were photographed and correlated with MR images. To standardize the analysis, the semimembranosus muscle and tendon were assessed at seven levels for the axial sections, and at three levels for the coronal and sagittal sections. Anatomic dissection revealed six insertions of the distal semimembranosus tendon: direct arm, anterior arm, posterior oblique ligament extension, oblique popliteal ligament extension, distal tibial expansion (popliteus aponeurosis), and meniscal arm. Axial MR images showed five of six insertions: direct arm, anterior arm, oblique popliteal ligament extension, posterior oblique ligament extension, and distal tibial expansion. Sagittal MR images showed four of six insertions: direct arm, anterior arm, oblique popliteal ligament arm, and distal tibial expansion. Sagittal MR images were ideal for showing the direct arm insertion, but were less optimal than the axial images for showing the other insertions. The anterior arm was seen but volume averaging was present with the gracilis tendon. Coronal MR images optimally revealed the anterior arm, although magic angle artifact was present at its posterior aspect. The common semimembranosus tendon and meniscal arm were also well depicted. The division in anterior arm, direct arm, and oblique popliteal ligament arm was poorly seen on coronal images due to

Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy.

Science.gov (United States)

Banihani, Rudaina; Smile, Sharon; Yoon, Grace; Dupuis, Annie; Mosleh, Maureen; Snider, Andrea; McAdam, Laura

2015-10-01

Duchenne muscular dystrophy is a progressive neuromuscular condition that has a high rate of cognitive and learning disabilities as well as neurobehavioral disorders, some of which have been associated with disruption of dystrophin isoforms. Retrospective cohort of 59 boys investigated the cognitive and neurobehavioral profile of boys with Duchenne muscular dystrophy. Full-scale IQ of Duchenne muscular dystrophy. © The Author(s) 2015.

Clinical-Diagnostic Features of Duchenne Muscular Dystrophy in Children

Directory of Open Access Journals (Sweden)

Umida T. Omonova

2013-12-01

Full Text Available Duchenne Muscular Dystrophy (DMD is a severe, progressive disease that affects about 1 out of every 5,000 male infants; this is the most destructive of all muscular dystrophies, which worsens rapidly. In this study, we performed a clinical analysis of 37 children with DMD. They ranged in age from 3 to 15 years, mean age being 7.8±0.48 years. The mean age at onset was 4.3±0.36 years and ranged from birth to 8 years. The biochemical examination included the determination of the serum levels of the following enzymes, AST, ALT, CPK-MM, and LDH. A genealogical analysis was conducted among 240 first-degree relatives of children with DMD. Electroneuromyography examination included registration of the biopotentials of the hand and foot muscles, measurement of the muscle response (M-wave and the late-evoked responses. The clinical-diagnostic features of DMD in children were characterized.

Early functional impairment of sensory-motor connectivity in a mouse model of spinal muscular atrophy

Science.gov (United States)

Mentis, George Z.; Blivis, Dvir; Liu, Wenfang; Drobac, Estelle; Crowder, Melissa E.; Kong, Lingling; Alvarez, Francisco J.; Sumner, Charlotte J.; O'Donovan, Michael J.

2011-01-01

SUMMARY To define alterations of neuronal connectivity that occur during motor neuron degeneration, we characterized the function and structure of spinal circuitry in spinal muscular atrophy (SMA) model mice. SMA motor neurons show reduced proprioceptive reflexes that correlate with decreased number and function of synapses on motor neuron somata and proximal dendrites. These abnormalities occur at an early stage of disease in motor neurons innervating proximal hindlimb muscles and medial motor neurons innervating axial muscles, but only at end-stage disease in motor neurons innervating distal hindlimb muscles. Motor neuron loss follows afferent synapse loss with the same temporal and topographical pattern. Trichostatin A, which improves motor behavior and survival of SMA mice, partially restores spinal reflexes illustrating the reversibility of these synaptic defects. De-afferentation of motor neurons is an early event in SMA and may be a primary cause of motor dysfunction that is amenable to therapeutic intervention. PMID:21315257

A bedside measure of body composition in Duchenne muscular dystrophy.

Science.gov (United States)

Elliott, Sarah A; Davidson, Zoe E; Davies, Peter S W; Truby, Helen

2015-01-01

In clinical practice, monitoring body composition is a critical component of nutritional assessment and weight management in boys with Duchenne muscular dystrophy. We aimed to evaluate the accuracy of a simple bedside measurement tool for body composition, namely bioelectrical impedance analysis, in boys with Duchenne muscular dystrophy. Measures of fat-free mass were determined using a bioelectrical impedance analysis machine and compared against estimations obtained from a reference body composition model. Additionally, the use of raw impedance values was analyzed using three existing predictive equations for the estimation of fat-free mass. Accuracy of bioelectrical impedance analysis was assessed by comparison against the reference model by calculation of biases and limits of agreement. Body composition was measured in 10 boys with Duchenne muscular dystrophy, mean age 9.01 ± 2.34 years. The bioelectrical impedance analysis machine values of fat-free mass were on average 2.3 ± 14.1 kg higher than reference values. Limits of agreement (based on 95% confidence interval of the mean) were -7.4 to 2.9 kg. There was a significant correlation between the mean fat-free mass and difference in fat-free mass between the bioelectrical impedance analysis machine and the reference model (r = -0.86; P = 0.02) suggesting that the bias was not consistent across the range of measurements. The most accurate predictive equation for the estimation of fat-free mass using raw impedance values was the equation by Pietrobelli et al. (mean difference, -0.7 kg; 95% limits of agreement, -3.5 to 2.0 kg). In a clinical setting, where a rapid assessment of body composition is advantageous, the use of raw impedance values, combined with the equation by Pietrobelli et al., is recommended for the accurate estimation of fat-free mass, in boys with Duchenne muscular dystrophy. Copyright © 2015 Elsevier Inc. All rights reserved.

Gene expression profiling in limb-girdle muscular dystrophy 2A.

Directory of Open Access Journals (Sweden)

Amets Sáenz

Full Text Available Limb-girdle muscular dystrophy type 2A (LGMD2A is a recessive genetic disorder caused by mutations in calpain 3 (CAPN3. Calpain 3 plays different roles in muscular cells, but little is known about its functions or in vivo substrates. The aim of this study was to identify the genes showing an altered expression in LGMD2A patients and the possible pathways they are implicated in. Ten muscle samples from LGMD2A patients with in which molecular diagnosis was ascertained were investigated using array technology to analyze gene expression profiling as compared to ten normal muscle samples. Upregulated genes were mostly those related to extracellular matrix (different collagens, cell adhesion (fibronectin, muscle development (myosins and melusin and signal transduction. It is therefore suggested that different proteins located or participating in the costameric region are implicated in processes regulated by calpain 3 during skeletal muscle development. Genes participating in the ubiquitin proteasome degradation pathway were found to be deregulated in LGMD2A patients, suggesting that regulation of this pathway may be under the control of calpain 3 activity. As frizzled-related protein (FRZB is upregulated in LGMD2A muscle samples, it could be hypothesized that beta-catenin regulation is also altered at the Wnt signaling pathway, leading to an incorrect myogenesis. Conversely, expression of most transcription factor genes was downregulated (MYC, FOS and EGR1. Finally, the upregulation of IL-32 and immunoglobulin genes may induce the eosinophil chemoattraction explaining the inflammatory findings observed in presymptomatic stages. The obtained results try to shed some light on identification of novel therapeutic targets for limb-girdle muscular dystrophies.

Muscle Dysmorphia and the Perception of Men's Peer Muscularity Preferences.

Science.gov (United States)

Lin, Linda; DeCusati, Frank

2016-11-01

Research suggests that peer muscularity norms preferences are related to men's body image, but little information is known about how perceptions of specific peer group norms preferences are related to men's body image disturbances and specific health behaviors. This study investigated how men perceived the muscularity preferences of male, female, close, and distant peers and whether the perceptions of specific peer preferences were related to muscle dysmorphia and steroid use. Data on muscle dysmorphia and the perceptions of peer muscularity norms were collected from 117 male college students. Results indicated that men perceived distant and male peers as having the most exaggerated preferences for muscularity and that those perceptions were not an accurate reflection of their distant male peers' reported preferences. Results also indicated that perceptions of close female peer muscularity preferences were predictive of symptoms of muscle dysmorphia, but this relationship did not exist for other peer groups, suggesting that the perceptions of close female peer preferences may play a role in the development of muscle dysmorphia. No relationship was found between perceptions of peer muscularity preferences and steroid use. © The Author(s) 2015.

Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy.

Science.gov (United States)

Bianco, Bianca; Christofolini, Denise Maria; Conceição, Gabriel Seixas; Barbosa, Caio Parente

2017-01-01

Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy. The couple E.P.R., 38-year-old, symptomatic patient heterozygous for a 2 to 47 exon deletion mutation in DMD gene and G.T.S., 39-year-old, sought genetic counseling about preimplantation genetic diagnosis process. They have had a 6-year-old son who died due to Duchenne muscular dystrophy complications. The couple underwent four cycles of intracytoplasmic sperm injection (ICSI) and eight embryos biopsies were analyzed by polymerase chain reaction (PCR) for specific mutation analysis, followed by microarray-based comparative genomic hybridisation (array CGH) for aneuploidy analysis. Preimplantation genetic diagnosis revealed that two embryos had inherited the maternal DMD gene mutation, one embryo had a chromosomal alteration and five embryos were normal. One blastocyst was transferred and resulted in successful pregnancy. The other embryos remain vitrified. We concluded that embryo analysis using associated techniques of PCR and array CGH seems to be safe for embryo selection in cases of X-linked disorders, such as Duchenne muscular dystrophy.

Estrogen-dependent downregulation of hairy and enhancer of split homolog-1 gene expression in breast cancer cells is mediated via a 3' distal element.

Science.gov (United States)

Müller, Patrick; Merrell, Kenneth W; Crofts, Justin D; Rönnlund, Caroline; Lin, Chin-Yo; Gustafsson, Jan-Ake; Ström, Anders

2009-03-01

Regulation of hairy and enhancer of split homologue-1 (HES-1) by estradiol and all-trans retinoic acid affects proliferation of human breast cancer cells. Here, we identify and characterize cis-regulatory elements involved in HES-1 regulation. In the distal 5' promoter of the HES-1 gene, we found a retinoic acid response element and in the distal 3' region, an estrogen receptor alpha(ER)alpha binding site. The ERalpha binding site, composed of an estrogen response element (ERE) and an ERE half-site, is important for both ERalpha binding and transcriptional regulation. Chromatin immunoprecipitation assays revealed that ERalpha is recruited to the ERE and associates with the HES-1 promoter. We also show recruitment of nuclear receptor co-regulators to the ERE in response to estradiol, followed by a decrease in histone acetylation and RNA polymerase II docking in the HES-1 promoter region. Our findings are consistent with a novel type of repressive estrogen response element in the distal 3' region of the HES-1 gene.

Muscular hamartoma of the breast: a case report

International Nuclear Information System (INIS)

Kang, Byeong Seong; Park, Jeong Mi

2002-01-01

Muscular hamartoma is a variant of breast hamartoma shown at microscopic examination to be composed of abundant smooth muscle cells. We report a case of muscular hamartoma occurring in a 35-year-old woman with an incidentally discovered breast mass, and confirmed by excisional biopsy. We also describe the radiologic and pathologic findings

Complementary and alternative medicine for Duchenne and Becker muscular dystrophies: characteristics of users and caregivers.

Science.gov (United States)

Zhu, Yong; Romitti, Paul A; Conway, Kristin M; Andrews, Jennifer; Liu, Ke; Meaney, F John; Street, Natalie; Puzhankara, Soman; Druschel, Charlotte M; Matthews, Dennis J

2014-07-01

Complementary and alternative medicine is frequently used in the management of chronic pediatric diseases, but little is known about its use by those with Duchenne or Becker muscular dystrophy. Complementary and alternative medicine use by male patients with Duchenne or Becker muscular dystrophy and associations with characteristics of male patients and their caregivers were examined through interviews with 362 primary caregivers identified from the Muscular Dystrophy Surveillance, Tracking, and Research Network. Overall, 272 of the 362 (75.1%) primary caregivers reported that they had used any complementary and alternative medicine for the oldest Muscular Dystrophy Surveillance, Tracking, and Research Network male in their family. The most commonly reported therapies were from the mind-body medicine domain (61.0%) followed by those from the biologically based practice (39.2%), manipulative and body-based practice (29.3%), and whole medical system (6.9%) domains. Aquatherapy, prayer and/or blessing, special diet, and massage were the most frequently used therapies. Compared with nonusers, male patients who used any therapy were more likely to have an early onset of symptoms and use a wheel chair; their caregivers were more likely to be non-Hispanic white. Among domains, associations were observed with caregiver education and family income (mind-body medicines [excluding prayer and/or blessing only] and whole medical systems) and Muscular Dystrophy Surveillance, Tracking, and Research Network site (biologically based practices and mind-body medicines [excluding prayer and/or blessing only]). Complementary and alternative medicine use was common in the management of Duchenne and Becker muscular dystrophies among Muscular Dystrophy Surveillance, Tracking, and Research Network males. This widespread use suggests further study to evaluate the efficacy of integrating complementary and alternative medicine into treatment regimens for Duchenne and Becker muscular

Why is muscularity sexy? Tests of the fitness indicator hypothesis.

Science.gov (United States)

Frederick, David A; Haselton, Martie G

2007-08-01

Evolutionary scientists propose that exaggerated secondary sexual characteristics are cues of genes that increase offspring viability or reproductive success. In six studies the hypothesis that muscularity is one such cue is tested. As predicted, women rate muscular men as sexier, more physically dominant and volatile, and less committed to their mates than nonmuscular men. Consistent with the inverted-U hypothesis of masculine traits, men with moderate muscularity are rated most attractive. Consistent with past research on fitness cues, across two measures, women indicate that their most recent short-term sex partners were more muscular than their other sex partners (ds = .36, .47). Across three studies, when controlling for other characteristics (e.g., body fat), muscular men rate their bodies as sexier to women (partial rs = .49-.62) and report more lifetime sex partners (partial rs = .20-.27), short-term partners (partial rs = .25-.28), and more affairs with mated women (partial r = .28).

Distal ureteral calculi: the usefulness of transrectal ultrasound and comparison with intravenous urography

International Nuclear Information System (INIS)

Choi, Moon Hae; Yoon, Dae Young; Shim, Joo Eun; Kim, Ho Chul; Yi, Jeong Geun; Choi, Chul Sun; Bae, Sang Hoon; Kim, Ha Young

1996-01-01

To determine the usefulness of transrectal ultrasound (TRUS) and to compare TRUS with intravenous urography (IVU) in the evaluation of distal ureteral calculi. TRUS and IVU were performed in 24 patients with distal ureteral calculi. Using TRUS, we evaluated the presence and size of calculus, type of ureteral jet at the affected site and diameter of ureter proximal to calculus, and using IVU evaluated the presence and size of calculus, degree of ureteral obstruction, and degree of hydroureter. TRUS and IVU findings, were compared. In each patient, TRUS detected calculus of the distal ureter;in only 18 cases (75%), were the calculi demonstrated with IVU. In 18 cases where calculi were detected by both modalities, average calculus size was 4.5x3.0mm (longest and shortest dimensions) by IVU, and 6.1x3.7mm by TRUS. Between TRUS and IVU(p 0.05). TRUS appears to be a useful adjunctive method for the evaluation of distal ureteral calculus

Galectin-3 and N-acetylglucosamine promote myogenesis and improve skeletal muscle function in the mdx model of Duchenne muscular dystrophy.

Science.gov (United States)

Rancourt, Ann; Dufresne, Sébastien S; St-Pierre, Guillaume; Lévesque, Julie-Christine; Nakamura, Haruka; Kikuchi, Yodai; Satoh, Masahiko S; Frenette, Jérôme; Sato, Sachiko

2018-06-12

The muscle membrane, sarcolemma, must be firmly attached to the basal lamina. The failure of proper attachment results in muscle injury, which is the underlying cause of Duchenne muscular dystrophy (DMD), in which mutations in the dystrophin gene disrupts the firm adhesion. In patients with DMD, even moderate contraction causes damage, leading to progressive muscle degeneration. The damaged muscles are repaired through myogenesis. Consequently, myogenesis is highly active in patients with DMD, and the repeated activation of myogenesis leads to the exhaustion of the myogenic stem cells. Therefore, approaches to reducing the risk of the exhaustion are to develop a treatment that strengthens the interaction between the sarcolemma and the basal lamina and increases the efficiency of the myogenesis. Galectin-3 is an oligosaccharide-binding protein and is known to be involved in cell-cell interactions and cell-matrix interactions. Galectin-3 is expressed in myoblasts and skeletal muscle, although its function in muscle remains elusive. In this study, we found evidence that galectin-3 and the monosaccharide N-acetylglucosamine, which increases the synthesis of binding partners (oligosaccharides) of galectin-3, promote myogenesis in vitro. Moreover, in the mdx mouse model of DMD, treatment with N-acetylglucosamine increased muscle-force production. The results suggest that treatment with N-acetylglucosamine might mitigate the burden of DMD.-Rancourt, A., Dufresne, S. S., St-Pierre, G., Lévesque, J.-C., Nakamura, H., Kikuchi, Y., Satoh, M. S., Frenette, J., Sato, S. Galectin-3 and N-acetylglucosamine promote myogenesis and improve skeletal muscle function in the mdx model of Duchenne muscular dystrophy.

Guidelines for the Perianesthesia Care of the Duchenne Muscular Dystrophy/Becker Muscular Dystrophy Patient.

Science.gov (United States)

Alliod, Barbara A; Ash, Rebecca A

2016-12-01

More patients suffering with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are presenting to perianesthesia settings for emergent and nonemergent treatment and care. A group of collaborative health care providers at Rush University Medical Center in Chicago developed a multidisciplinary DMD/BMD Task Force to study this disorder and create a set of guidelines to aid those engaging in the planning, execution of care, and recovery of this unique population in the perianesthesia setting. Attention to detail, well-executed preplanning, meticulous awareness of the patient, and prearranged implementation and intervention has proven to offset potential problems and complications and is the key to a successful perianesthesia period. Copyright © 2016 American Society of PeriAnesthesia Nurses. Published by Elsevier Inc. All rights reserved.

Fractures of the distal tibia treated with polyaxial locking plating.

Science.gov (United States)

Gao, Hong; Zhang, Chang-Qing; Luo, Cong-Feng; Zhou, Zu-Bin; Zeng, Bing-Fang

2009-03-01

We evaluated the healing rate, complications, and functional outcomes in 32 adult patients with very short metaphyseal fragments in fractures of the distal tibia treated with a polyaxial locking system. The average distance from the distal extent of the fracture to the tibial plafond was 11 mm. All fractures healed and the average time to union was 14 weeks. Six patients (19%) reported occasional local disturbance over the medial malleolus. There were two cases of postoperative superficial infections and evidence of delayed wound healing. Using the American Orthopaedic Foot and Ankle Society ankle score, the average functional score was 87.3 points (of 100 total possible points). Our results show the polyaxial locking plates, which offer more fixation versatility, may be a reasonable treatment option for distal tibia fractures with very short metaphyseal segments.

Customization of a generic 3D model of the distal femur using diagnostic radiographs.

Science.gov (United States)

Schmutz, B; Reynolds, K J; Slavotinek, J P

2008-01-01

A method for the customization of a generic 3D model of the distal femur is presented. The customization method involves two steps: acquisition of calibrated orthogonal planar radiographs; and linear scaling of the generic model based on the width of a subject's femoral condyles as measured on the planar radiographs. Planar radiographs of seven intact lower cadaver limbs were obtained. The customized generic models were validated by comparing their surface geometry with that of CT-reconstructed reference models. The overall mean error was 1.2 mm. The results demonstrate that uniform scaling as a first step in the customization process produced a base model of accuracy comparable to other models reported in the literature.

A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy

Science.gov (United States)

2018-04-17

Muscular Dystrophies; Muscular Dystrophy, Duchenne; Muscular Disorders, Atrophic; Muscular Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn

Combined open proximal and stent-graft distal repair for distal arch aneurysms: an alternative to total debranching.

Science.gov (United States)

Zierer, Andreas; Sanchez, Luis A; Moon, Marc R

2009-07-01

We present herein a novel, combined, simultaneous open proximal and stent-graft distal repair for complex distal aortic arch aneurysms involving the descending aorta. In the first surgical step, the transverse arch is opened during selective antegrade cerebral perfusion, and a Dacron graft (DuPont, Wilmington, DE) is positioned down the descending aorta in an elephant trunk-like fashion with its proximal free margin sutured circumferentially to the aorta just distal to the left subclavian or left common carotid artery. With the graft serving as the new proximal landing zone, subsequent endovascular repair is performed antegrade during rewarming through the ascending aorta.

Classification of distal fingertip amputation based on the arterial system for replantation.

Science.gov (United States)

Park, Hyun Chul; Bahar-Moni, Ahmed Suparno; Cho, Sang Hyun; Kim, Sang Soo; Park, Hyun Sik; Ahn, Sang Cheon

2013-06-01

During replantation of distal fingertip amputation, identification of the artery is the most important but time consuming procedure. Depending on the damaged arterial structure, we classified distal fingertip amputations into 4 zones, on the basis of three dimensional concept. Zone 1 injury was defined as damage to the proximal central pulp artery; zone 2 injury, damage to the branch of the central pulp artery; zone 3 injury, damage to the distal central pulp artery; and zone 4 injury, no injury to the central pulp artery, injury only to the lateral pulp artery. From April 2010 to June 2011, 27 patients were evaluated. Successful replantation was observed in 21 patients. Skin necrosis occurred in six patients. For distal fingertip amputation classification based on the damaged arterial system is an easy method to find out the appropriate artery which should be anastomosed during replantation.

Dental and skeletal changes after intraoral molar distalization with sectional jig assembly.

Science.gov (United States)

Gulati, S; Kharbanda, O P; Parkash, H

1998-09-01

The present study was conducted on 10 subjects to evaluate dental and skeletal changes after intraoral molar distalization. The maxillary molars were distalized with a sectional jig assembly. Sentalloy open coil springs were used to exert 150 gm of force for a period of 12 weeks. A modified Nance appliance was the main source of anchorage. The pre- and postdistalization records included dental study casts, clinical photographs, and cephalograms. A total of 665 readings recorded from lateral cephalograms and dental casts were subjected to statistical analysis. The mean distal movement of the first molar was 2.78 mm, which was highly significant (o < 0.001). It moved distally at the rate of 0.86 mm/month. There was clinically some distal tipping (3.50 degrees) and distopalatal rotation (2.40 degrees). These changes were statistically significant (p < 0.001). The second molars accompanied the first molars and moved distally by nearly the same amount. There was 1.00 mm increase in the overjet and 2.60 degrees mesial tip of second premolar. The changes in the facial skeleton and dentition bases were minimal and statistically not significant. However, there was clockwise rotation of the mandible of 1.30 degrees that was statistically significant. This was the result of molar extrusion (1.60 mm).

Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy

Science.gov (United States)

Lo, Ivan F. M.; Cherk, Sharon W. W.; Cheng, Wai Wai; Fung, Eva L. W.; Yeung, Wai Lan; Ngan, Mary; Lee, Wing Cheong; Kwong, Ling; Wong, Suet Na; Ma, Che Kwan; Tai, Shuk Mui; Ng, Grace S. F.; Wu, Shun Ping; Wong, Virginia C. N.

2015-01-01

The aim of this collaborative study on Duchenne muscular dystrophy and Becker muscular dystrophy is to determine the prevalence and to develop data on such patients as a prelude to the development of registry in Hong Kong. Information on clinical and molecular findings, and patient care, was systematically collected in 2011 and 2012 from all Pediatric Neurology Units in Hong Kong. Ninety patients with dystrophinopathy were identified, and 83% has Duchenne muscular dystrophy. The overall prevalence of dystrophinopathy in Hong Kong in 2010 is 1.03 per 10 000 males aged 0 to 24 years. Among the Duchenne group, we observed a higher percentage (40.6%) of point mutations with a lower percentage (45.3%) of exon deletions in our patients when compared with overseas studies. Although we observed similar percentage of Duchenne group received scoliosis surgery, ventilation support, and cardiac treatment when compared with other countries, the percentage (25%) of steroid use is lower. PMID:28503591

Computed tomography of skeletal muscles in childhood spinal progressive muscular atrophies

International Nuclear Information System (INIS)

Arai, Yumi; Osawa, Makiko; Sumida, Sawako; Shishikura, Keiko; Suzuki, Haruko; Fukuyama, Yukio; Kohno, Atsushi

1992-01-01

Computed tomographic (CT) scanning of skeletal muscles was performed in patients with type 1 and type 2 spinal progressive muscular atrophy (SPMA) and Kugelberg-Welander disease (K-W) to delineate the characteristic CT features of each category. Marked muscular atrophy was observed in type 1 SPMA, and both muscular atrophy and intramuscular low density areas in type 2 SPMA, changes being more pronounced in older patients. In contrast, in K-W, muscular atrophy was slight, and intramuscular low density areas constituted the most prominent findings. These observations indicate that SPMA and K-W are each characterized by distinct CT findings. (author)

Antimyosin scintigraphy in patients with acquired and hereditary muscular disorders

International Nuclear Information System (INIS)

Loefberg, M.; Liewendahl, K.; Savolainen, S.; Nikkinen, P.; Lamminen, A.; Tiula, E.; Somer, H.

1994-01-01

Scintigraphy with indium-111 labelled antimyosin has an established role in the evaluation of cardiac muscle damage. This antibody has been shown to cross-react with myosin in skeletal muscle. We therefore studied the usefulness of this method for the detection of skeletal muscle lesions in rhabdomyolysis, myositis and hereditary muscular dystrophies. All nine patients with rhabdomyolysis had focal uptake of antimyosin antibody which correlated with the clinical findings of soft tissue damage. However, a number of symptomless lesions were also detected by immunoscintigraphy. In rhabdomyolysis the target to non-target uptake ratios varied from 1.3 to 7.6. Diffuse uptake of antibody in skeletal muscle was observed in all three patients with polymyositis-dermatomyositis and in 12 out of 13 patients with muscular dystrophies. In myositis the intensity of antibody accumulation correlated reasonably well with the magnitude of oedema detected by magnetic resonance imaging (MRI). Most patients with Becker type or non-X-chromosomal muscular dystrophies showed slight or moderate uptake of antibody, mainly in the lower extremities. In these patients more antibody accumulated in the calves than in the thighs, whereas the findings on MRI were more prominent in the thighs than in the calves, presumably because of the better preserved muscle bulk in the calves. We conclude that antimyosin scintigraphy can be used for the detection of muscle lesions not only in acquired muscle diseases but also in hereditary muscular disorders, and that immunoscintigraphy provides information on muscle disease activity not obtainable with MRI. (orig.)

Antimyosin scintigraphy in patients with acquired and hereditary muscular disorders

Energy Technology Data Exchange (ETDEWEB)

Loefberg, M. (Dept. of Neurology, Helsinki Univ. Central Hospital (Finland)); Liewendahl, K. (Dept. of Clinical Chemistry, Helsinki Univ. Central Hospital (Finland)); Savolainen, S. (Dept. of Clinical Chemistry, Helsinki Univ. Central Hospital (Finland)); Nikkinen, P. (Dept. of Clinical Chemistry, Helsinki Univ. Central Hospital (Finland)); Lamminen, A. (Dept. of Radiology, Helsinki Univ. Central Hospital (Finland)); Tiula, E. (First Dept. of Internal Medicine, Helsinki Univ. Central Hospital (Finland)); Somer, H. (Dept. of Neurology, Helsinki Univ. Central Hospital (Finland))

1994-10-01

Scintigraphy with indium-111 labelled antimyosin has an established role in the evaluation of cardiac muscle damage. This antibody has been shown to cross-react with myosin in skeletal muscle. We therefore studied the usefulness of this method for the detection of skeletal muscle lesions in rhabdomyolysis, myositis and hereditary muscular dystrophies. All nine patients with rhabdomyolysis had focal uptake of antimyosin antibody which correlated with the clinical findings of soft tissue damage. However, a number of symptomless lesions were also detected by immunoscintigraphy. In rhabdomyolysis the target to non-target uptake ratios varied from 1.3 to 7.6. Diffuse uptake of antibody in skeletal muscle was observed in all three patients with polymyositis-dermatomyositis and in 12 out of 13 patients with muscular dystrophies. In myositis the intensity of antibody accumulation correlated reasonably well with the magnitude of oedema detected by magnetic resonance imaging (MRI). Most patients with Becker type or non-X-chromosomal muscular dystrophies showed slight or moderate uptake of antibody, mainly in the lower extremities. In these patients more antibody accumulated in the calves than in the thighs, whereas the findings on MRI were more prominent in the thighs than in the calves, presumably because of the better preserved muscle bulk in the calves. We conclude that antimyosin scintigraphy can be used for the detection of muscle lesions not only in acquired muscle diseases but also in hereditary muscular disorders, and that immunoscintigraphy provides information on muscle disease activity not obtainable with MRI. (orig.)

Duchenne muscular dystrophy carriers

International Nuclear Information System (INIS)

Matsumura, K.; Nakano, I.

1989-01-01

By means of magnetic resonance imaging (MRI), the proton spin-lattice relaxation times (T1 values) of the skeletal muscles were measured in Duchenne muscular dystrophy (DMD) carriers and normal controls. The bound water fraction (BWF) was calculated from the T1 values obtained, according to the fast proton diffusion model. In the DMD carriers, T1 values of the gluteus maximus and quadriceps femoris muscles were significantly higher, and BWFs of these muscles were significantly lower than in normal control. Degenerative muscular changes accompanied by interstitial edema were presumed responsible for this abnormality. No correlation was observed between the muscle T1 and serum creatine kinase values. The present study showed that MRI could be a useful method for studying the dynamic state of water in both normal and pathological skeletal muscles. Its possible utility for DMD carrier detection was discussed briefly. (orig.)

Growth and psychomotor development of patients with Duchenne muscular dystrophy.

Science.gov (United States)

Sarrazin, Elisabeth; von der Hagen, Maja; Schara, Ulrike; von Au, Katja; Kaindl, Angela M

2014-01-01

Duchenne muscular dystrophy (DMD) is one of the most common hereditary degenerative neuromuscular diseases and caused by mutations in the dystrophin gene. The objective of the retrospective study was to describe growth and psychomotor development of patients with DMD and to detect a possible genotype-phenotype correlation. Data from 263 patients with DMD (mean age 7.1 years) treated at the Departments of Pediatric Neurology in three German University Hospitals was assessed with respect to body measurements (length, weight, body mass index BMI, head circumference OFC), motor and cognitive development as well as genotype (site of mutation). Anthropometric measures and developmental data were compared to those of a reference population and deviations were analyzed for their frequency in the cohort as well as in relation to the genotypes. Corticosteroid therapy was implemented in 29 from 263 patients. Overall 30% of the patients exhibit a short statue (length development at 2-5 years of age, and this is even more prevalent when steroid therapy is applied (45% of patients with steroid therapy). The BMI shows a rightwards shift (68% > 50th centile) and the OFC a leftwards shift (65% development is delayed in a third of the patients (mean age at walking 18.3 months, 30% > 18 months, 8% > 24 months). Almost half of the patients show cognitive impairment (26% learning disability, 17% intellectual disability). Although there is no strict genotype-phenotype correlation, particularly mutations in the distal part of the dystrophin gene are frequently associated with short stature and a high rate of microcephaly as well as cognitive impairment. Copyright © 2013 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Duchenne muscular dystrophy: the management of scoliosis

Science.gov (United States)

Gardner, Adrian C.; Roper, Helen P.; Chikermane, Ashish A.; Tatman, Andrew J.

2016-01-01

This study summaries the current management of scoliosis in patients with Duchenne Muscular Dystrophy. A literature review of Medline was performed and the collected articles critically appraised. This literature is discussed to give an overview of the current management of scoliosis within Duchenne Muscular Dystrophy. Importantly, improvements in respiratory care, the use of steroids and improving surgical techniques have allowed patients to maintain quality of life and improved life expectancy in this patient group. PMID:27757431

Motor assessment in patients with Duchenne muscular dystrophy

Directory of Open Access Journals (Sweden)

Gabriela Palhares Campolina Diniz

2012-06-01

Full Text Available OBJECTIVE: Evaluate muscle force and motor function in patients with Duchenne muscular dystrophy (DMD in a period of six months. METHOD: Twenty children and adolescents with diagnosis of DMD were evaluated trough: measurement of the strength of the flexors and extensors of the shoulder, elbow, wrist, knee and ankle through the Medical Research Council (MRC, and application of the Motor Function Measure (MFM. The patients were evaluated twice within a six-month interval. RESULTS: Loss of muscle strength was identified in the MRC score for upper proximal members (t=-2.17, p=0.04. In the MFM, it was noted significant loss in the dimension 1 (t=-3.06, p=0.006. Moderate and strong correlations were found between the scores for muscular strength and the MFM dimensions. CONCLUSION: The MFM scale was a useful instrument in the follow up of patients with DMD. Moreover, it is a more comprehensive scale to assess patients and very good for conducting trials to evaluate treatment.

[Results After Distal Digital Replantation - Is It Worth The Effort?

Science.gov (United States)

Braig, David; Thiele, Jan R; Penna, Vincenzo; Stark, G Björn; Eisenhardt, Steffen U

2017-02-01

There are only relative indications for distal digital replantation in zones 1 and 2 according to Tamai. In contrast to primary closure for fingertip amputations, replantation is a complex procedure that requires skills in supermicrosurgical techniques, as vessels with diameters between 0.3-0.8 mm are connected. In addition the time spent in hospital and the time off from work are longer. Distal digital replantation is thus only indicated, if the expected functional and aesthetic benefits surmount those of primary closure. We retrospectively analysed all fingertip amputations in zone 1 and 2 according to Tamai between 9/2009 and 7/2014 where we attempted distal digital replantation. The success of replantation, wound healing and functional results were evaluated according to Yamano. We performed 11 distal digital replantations in the study period. There were 6 total amputations, 4 subtotal amputations and 1 avulsion of the digital pulp. Revascularisation with long-term reattachment of the amputated tissues was possible in 8 cases (73%). In 3 cases (27%) secondary amputation closure was necessary. The mean operating time was 3 h 56 min. 6 patients, which had a successful replantation, were available for follow-up examinations after a mean period of 19 months. 5 patients were satisfied with the result and would again prefer replantation over primary amputation closure. 4 patients reported a good function of the replanted digits and did not complain about any limitations in their use. 2 patients complained about restricted function. All patients could return to their previous places of employment and were free of pain. Of the 12 affected digital nerves 11 nerves had a 2-point discrimination (2-PD) of ≤15 mm, 3 of them had a 2-PD between 7 and 10 mm and 4 of them of replanted digits and nail deformities in 2 patients. Distal digital replantation is complex and technically challenging. It leads to high patient satisfaction with only minimal functional

BIOCHEMICAL MECHANISM OF AUTOLYTIC PROCESSES OF MUSCULAR TISSUE OF FISHES

Directory of Open Access Journals (Sweden)

L. V. Antipova

2015-01-01

Full Text Available The conducted researches allowed to establish that intensive disintegration of a muscular glycogen leads to sharp decrease in size рН muscular tissue in the sour party that in turn affects a chemical composition and physic-colloidal structure of proteins therefore: resistance of meat of fish to action of putrefactive microorganisms increases; solubility of muscle proteins, level of their hydration which is water connecting abilities decreases; there is a swelling of collagen of connecting fabric; activity of the cathepsin (an optimum рН 5,3 causing hydrolysis of proteins at later stages of an autolysis increases; the bicarbonate system of muscular tissue with release of carbon dioxide collapses; predecessors of taste and aroma of meat are formed; process of oxidation of lipids becomes more active. As a result of accumulation dairy, phosphoric and other acids in meat of fish concentration of hydrogen ions of that decrease рН is result increases. Sharply shown sour environment and availability of inorganic phosphorus is considered the reason of disintegration of an actin-myosin complex on actin and a myosin which begins after 8 hours of storage, i.e. there comes the period of relaxation of muscle fibers and the period of permission of an numbness, and then the last stage of maturing of meat – deep autolysis. Thus, on the basis of classical ideas of biochemical changes of meat of land animals and summarizing the obtained data on posthumous changes in muscular tissue of fishes, it is possible to draw a conclusion that they have similar nature of regularity in comparison with muscular tissue of land animals, but their main difference is higher speed of course of autolytic transformations. It in turn leads to faster change of FTS of meat of fishes who are the defining indicators when developing assortment groups of products taking into account stages of an autolysis in meat.

Dysphagia in Duchenne Muscular Dystrophy Assessed by Validated Questionnaire

Science.gov (United States)

Archer, Sally K.; Garrod, Rachel; Hart, Nicholas; Miller, Simon

2013-01-01

Background: Duchenne muscular dystrophy (DMD) leads to progressive muscular weakness and death, most typically from respiratory complications. Dysphagia is common in DMD; however, the most appropriate swallowing assessments have not been universally agreed and the symptoms of dysphagia remain under-reported. Aims: To investigate symptoms of…

Rare muscular variations identified in a single cadaveric upper limb: a four-headed biceps brachii and muscular elevator of the latissimus dorsi tendon.

Science.gov (United States)

Moore, Colin W; Rice, Charles L

2018-03-01

Supernumerary or accessory heads of the biceps brachii are persistent muscular structures which can vary in number and location in the arm. Variations in other arm muscles, such as the coracobrachialis, can accompany supernumerary biceps brachii musculature in the upper limb. In this case report, we describe two rare muscular variants in a single adult male: a four-headed biceps brachii and the muscular elevator of the latissimus dorsi tendon. Additionally, accessory muscles of the brachialis and flexor digiti minimi brevis were identified in the upper limb. To our knowledge, the muscular variants identified here are considered rare, and their co-occurrence in a single upper limb has not been described previously. Also, a four-headed biceps brachii consisting of both the infero-medial and infero-lateral humeral heads has not been described previously to our knowledge. We postulate that the simultaneous appearance of several muscular variations may indicate a signaling disruption in embryogenesis during muscle patterning of the ventral limb bud. Knowledge of variant musculature in the arm is important for surgeons and clinicians as these muscles and their aberrant innervation patterns can complicate surgical procedures and may compress arteries and nerves producing upper limb pain and paresthesia. The clinical, functional and embryological implications of the upper limb variants are discussed.

Muscle-Eye-Brain Disease; a Rare Form of Syndromic Congenital Muscular Dystrophy

Directory of Open Access Journals (Sweden)

Gosal Gurinder S

2011-03-01

Full Text Available Congenital muscular dystrophy (CMD is a heterogeneous group of disorders characterized by muscular hypotonia since birth and the histologic features of muscular dystrophy. Syndromic congenital muscular dystrophies are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, lissencephaly, and eye anomalies. We present a case of a rare form of syndromic congenital muscular dystrophy in an eight year old girl, born of first- degree consanguinity. She had: global developmental delay; a seizure disorder; hypotonia; progressive muscle contractures including bilateral symmetrical flexion contractures of hips, knees, equinus contracture and thoracolumbar scoliosis; diminished deep tendon reflexes: bilateral premature cataract; pseudophakia; and nystagmus. The patient was also highly myopic. Based on clinical features, muscle biopsy and MRI of the brain, a diagnosis of muscle- eye- brain disease was made. Identification of these patients may help to prevent this crippling disorder in the future siblings of probands by utilizing genetic counselling and mutation analysis.

Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

Directory of Open Access Journals (Sweden)

Ana Cotta

2014-09-01

Full Text Available Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function. Detailed clinical, laboratorial, imaging, diagnostic flowchart, photographs, tables, and illustrated diagrams are presented for the differential diagnosis of common autosomal recessive limb girdle muscular dystrophy subtypes diagnosed nowadays at one reference center in Brazil. Preoperative image studies guide muscle biopsy site selection. Muscle involvement image pattern differs depending on the limb girdle muscular dystrophy subtype. Muscle involvement is conspicuous at the posterior thigh in calpainopathy and fukutin-related proteinopathy; anterior thigh in sarcoglycanopathy; whole thigh in dysferlinopathy, and telethoninopathy. The precise differential diagnosis of limb girdle muscular dystrophies is important for genetic counseling, prognostic orientation, cardiac and respiratory management. Besides that, it may probably, in the future, provide specific genetic therapies for each subtype.

Genetics Home Reference: spinal muscular atrophy with progressive myoclonic epilepsy

Science.gov (United States)

... myoclonic epilepsy Spinal muscular atrophy with progressive myoclonic epilepsy Printable PDF Open All Close All Enable Javascript ... boxes. Description Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that causes ...

Dismorfia muscular: A busca pelo corpo hiper musculoso

Directory of Open Access Journals (Sweden)

Andréa Pires Azevedo

2012-03-01

Full Text Available A dismorfia muscular tem sido identificada tanto em homens quanto em mulheres, provocando alterações da perceção da autoimagem e prejuízos socioculturais, e na saúde e bem-estar dos indivíduos. Nesse sentido, o objetivo deste estudo é analisar os aspetos socioculturais, psicológicos e o uso de recursos ergogênicos relacionados à dismorfia muscular, bem como, identificar os riscos promovidos pelo transtorno. Participaram 20 indivíduos, inscritos na rede mundial de computadores. Utilizou-se um questionário para coleta de dados e a análise documental para interpretação das respostas. Os resultados demonstram que as preocupações com a imagem corporal geram insegurança social, baixa autoestima e sentimentos de inferioridade, que seriam resolvidos se a pessoa tivesse corpos belos e fortes. A dismorfia muscular pode aumentar o risco de uso dos esteroides anabolizantes e o uso indiscriminado de suplementos alimentares. Conclui-se que a dismorfia muscular causa sofrimentos e prejuízos psicológicos, socioculturais e, desse modo, compromete a saúde das pessoas.

Avaliação da função motora em crianças com distrofia muscular congênita com deficiência da merosina Motor function evaluation in merosin-deficient congenital muscular dystrophy children

Directory of Open Access Journals (Sweden)

Fernanda M. Rocco

2005-06-01

Full Text Available A distrofia muscular congênita (DMC compõe um grupo de miopatias caracterizadas por hipotonia e fraqueza muscular notadas até o primeiro ano de vida. Em torno de 40% a 50% dos casos são decorrentes de deficiência primária da proteína merosina (DM, os quais apresentam um fenótipo mais homogêneo, com grave comprometimento motor e respiratório. Foram avaliadas neste estudo onze crianças com diagnóstico clínico e histológico de DMC-DM, com idade de 3 a 15 anos, através de exame de força muscular ("Medical Research Council", análise goniométrica, avaliação das habilidades motoras e das atividades de vida diária (AVDs (indicador de Barthel, com o objetivo de caracterizar as principais limitações funcionais motoras. Os grupos musculares mais comprometidos foram os flexores cervicais, paravertebrais e proximais dos membros. Os grupos musculares dos membros superiores estavam tão comprometidos quanto os dos membros inferiores, enquanto que os extensores encontravam-se mais comprometidos que os flexores. Todas as crianças apresentavam importantes retrações musculares nos quadris, joelhos e cotovelos. Outras deformidades freqüentes foram escoliose e pés eqüino-varo. Nenhuma criança possuía a habilidade motora necessária para engatinhar, ficar de pé ou andar; e todas foram classificadas como dependentes ou semidependentes para a maioria das AVDs estudadas. Nossos achados confirmam o envolvimento difuso e intenso da musculatura esquelética na DMC-DM, acarretando graves limitações funcionais motoras e deformidades músculo-esqueléticas.Congenital muscular dystrophy (CMD is a heterogeneous group of disorders characterized by early onset of hypotonia and weakness. Almost 50% of the cases are caused by primary deficiency of a protein named merosin (MD, and present a homogenous phenotype with a severe motor and respiratory involvement. Eleven children with clinical and histological diagnosis of CMD-MD, aged of 3 to 15 years

Impact of muscular uptake and statistical noise on tumor quantification based on simulated FDG-PET studies

International Nuclear Information System (INIS)

Silva-Rodríguez, Jesús; Domínguez-Prado, Inés; Pardo-Montero, Juan; Ruibal, Álvaro

2017-01-01

Purpose: The aim of this work is to study the effect of physiological muscular uptake variations and statistical noise on tumor quantification in FDG-PET studies. Methods: We designed a realistic framework based on simulated FDG-PET acquisitions from an anthropomorphic phantom that included different muscular uptake levels and three spherical lung lesions with diameters of 31, 21 and 9 mm. A distribution of muscular uptake levels was obtained from 136 patients remitted to our center for whole-body FDG-PET. Simulated FDG-PET acquisitions were obtained by using the Simulation System for Emission Tomography package (SimSET) Monte Carlo package. Simulated data was reconstructed by using an iterative Ordered Subset Expectation Maximization (OSEM) algorithm implemented in the Software for Tomographic Image Reconstruction (STIR) library. Tumor quantification was carried out by using estimations of SUV max , SUV 50 and SUV mean from different noise realizations, lung lesions and multiple muscular uptakes. Results: Our analysis provided quantification variability values of 17–22% (SUV max ), 11–19% (SUV 50 ) and 8–10% (SUV mean ) when muscular uptake variations and statistical noise were included. Meanwhile, quantification variability due only to statistical noise was 7–8% (SUV max ), 3–7% (SUV 50 ) and 1–2% (SUV mean ) for large tumors (>20 mm) and 13% (SUV max ), 16% (SUV 50 ) and 8% (SUV mean ) for small tumors (<10 mm), thus showing that the variability in tumor quantification is mainly affected by muscular uptake variations when large enough tumors are considered. In addition, our results showed that quantification variability is strongly dominated by statistical noise when the injected dose decreases below 222 MBq. Conclusions: Our study revealed that muscular uptake variations between patients who are totally relaxed should be considered as an uncertainty source of tumor quantification values. - Highlights: • Distribution of muscular uptake from 136 PET

Subclinical ischemic events in patients undergoing carotid artery stent placement: comparison of proximal and distal protection techniques.

Science.gov (United States)

Aytac, Emrah; Gürkaş, Erdem; Akpinar, Cetin Kursad; Saleem, Muhammad A; Qureshi, Adnan I

2017-10-01

To determine the relative effectiveness of proximal and distal protection in prevention of cerebral ischemic events during carotid artery stent (CAS) placement using diffusion-weighted MRI (DW-MRI). We analyzed data from patients who had undergone DW-MRI before and within 24 hours of CAS for symptomatic internal carotid artery (ICA) stenosis (with last ischemic events within 3 months). The study was performed prospectively; patients were not randomized, and were treated either with a proximal balloon occlusion system (Mo.Ma; Invatec, Roncadelle, Italy) or filter-type distal protection device (Spider device; ev3, Plymouth, Minnesota, USA). Of the 45 patients (mean age±SD: 66.9±9.8 years; 73.3% were men) who underwent CAS, 19 had proximal protection and 26 distal protection. New ischemic lesions were detected in 26/45 patients on DW-MRI scans obtained within 24 hours after CAS. The proportion of patients with new lesions on DW-MRI at 24 hours was not different between the two groups (47.4% vs 65.4% for proximal and distal protection, respectively). The mean number of new ischemic lesions on post-CAS DW-MRI was non-significantly higher in patients who underwent CAS with distal protection (2.80±3.54 for proximal protection vs 4.96±5.11 for distal protection; p=0.12). The proportion of patients with new lesions >1 cm did not differ between the two groups (5.3% for proximal protection vs 11.5% for distal protection; p=0.62). There was no difference in the rates of ischemic stroke between patients who underwent CAS treatment using proximal and distal protection (5.3% vs 7.7%; p=1.000). We found a relatively high rate of new ischemic lesions in patients undergoing CAS with cerebral protection. There was no difference in the proportion of patients with new lesions between patients treated using distal protection and those treated using proximal protection. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a

Postoperative Course and Complications after Pull-through Vaginoplasty for Distal Vaginal Atresia.

Science.gov (United States)

Mansouri, Roshanak; Dietrich, Jennifer E

2015-12-01

To report the usual postoperative course and complications after pull-through vaginoplasty for isolated distal vaginal atresia. Retrospective chart review at Texas Children's Hospital of all patients who were diagnosed with isolated distal vaginal atresia and underwent pull-through vaginoplasty during the study time frame. None. Postoperative complications such as vaginal stenosis or infection and postoperative vaginal diameter. Sixteen patients were identified and charts were reviewed. Patients were initially evaluated by pelvic magnetic resonance imaging and found to have distended hematometrocolpos with distal vaginal atresia. All patients underwent pull-through vaginoplasty with similar operative techniques. The average distance from the perineum to the level of the obstruction was 1.84 ± 1.2 cm. Two patients, both with obstructions at greater than 3 cm, experienced stricture formation postoperatively. Four patients (25%) experienced postoperative vaginitis. One patient (6.25%) experienced a postoperative urinary tract infection. Two groups (3 cm or less versus greater than 3 cm) were compared, and the presence of stricture was statistically different based on mean centimeters from perineum prior to pull-through vaginoplasty (P = .038). Distal vaginal atresia is managed with pull-through vaginoplasty. Atresias that extend greater than 3 cm from the perineum are at increased risk for vaginal stricture formation and should be followed to monitor for their formation. Other complications are infrequent and minor. Copyright © 2015 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Characterisation of osseous bodies of the distal phalanx of foals

International Nuclear Information System (INIS)

Kaneps, A.J.; O'Brien, T.R.; Redden, R.F.; Stover, S.M.; Pool, R.R.

1993-01-01

The distal phalanx and metacarpal physis of both forelimbs of 32 Thoroughbred foals 3-32 weeks of age were radiographed to identify those limbs with osseous bodies at a palmar process (PP) of the distal phalanx. Osseous bodies (ossicles) were identified radiographically in 19% of the foals. Sixteen of the 32 foals were selected for microradiographic and histological evaluation: 6 foals with radiographic evidence of ossicles and 10 foals without. Fourteen ossicles of the PP were observed radiographically. Ossicles were either a triangular bone fragment at the palmar aspect of the distal angle of the PP, or an oblong bone fragment separated from P3 by a radiolucent line extending 1-3 cm from the incisure of the PP to the solar margin. One foal had radiographic evidence of bilateral distal metacarpal physitis. Seventeen of 35 PPs examined microradiographically were considered normal, in that the dorsal and solar cortices were thin with trabecular bone orientated parallel to the cortical surfaces, and there was a depression in the dorsal cortical surface (i.e. parietal sulcus). Abnormal microradiographic findings in the other 18 PPs included a fracture line extending from the dorsal cortical surfaces and trabecular bridging of the fracture gap. The fracture line was often continuous with the parietal sulcus. Microradiographic evidence of a fracture was found in 75% of foals evaluated. Normal histological findings in 16 PPs included thin dorsal and solar cortices with trabeculae orientated parallel to the cortical surfaces, parallel-fibred dense connective tissue attachments of the deep digital flexor tendon to the solar cortical surfaces, and a neurovascular bundle associated with the parietal sulcus

Multicentre prospective evaluation of implant-assisted mandibular bilateral distal extension removable partial dentures: patient satisfaction.

Science.gov (United States)

Wismeijer, Daniel; Tawse-Smith, Andrew; Payne, Alan G T

2013-01-01

To compare the levels of patient satisfaction with either conventional mandibular bilateral distal extension partial dentures or those assisted by bilateral distal implants. Forty-eight participants who were dissatisfied with their existing conventional mandibular distal extension dentures opposing complete maxillary dentures were selected for a multicentre prospective study in New Zealand, Colombia and the Netherlands. A control group of 12 participants in New Zealand received conventional mandibular partial dentures. Three test groups involving 36 participants in New Zealand (12), Colombia (12) and the Netherlands (12) received bilateral distal implants in the second molar regions. After conventional loading, the test group participants initially had healing caps placed on the distal implants providing support only, followed after approximately 6 months by ball abutments (retentive anchors) for support and retention. Patient outcomes were determined with questionnaires completed at specific stages of the study for up to 3 years. Visual analogue scale, Likert and oral health impact questionnaires before and after treatment indicated improved results. There were significantly improved parameters of overall satisfaction, stability, chewing and appearance after 3 years (P removable partial dentures are a preferable treatment option for patients with complaints about their conventional distal extension partial dentures. © 2011 John Wiley & Sons A/S.

Pendulum and modified pendulum appliances for maxillary molar distalization in Class II malocclusion - a systematic review.

Science.gov (United States)

Al-Thomali, Yousef; Basha, Sakeenabi; Mohamed, Roshan Noor

2017-08-01

The main purpose of the present systematic review was to evaluate the quantitative effects of the pendulum appliance and modified pendulum appliances for maxillary molar distalization in Class II malocclusion. Our systematic search included MEDLINE, EMBASE, CINAHL, PsychINFO, Scopus and key journals and review articles; the date of the last search was 30 January 2017. We graded the methodological quality of the studies by means of the Quality Assessment Tool for Quantitative Studies, developed for the Effective Public Health Practice Project (EPHPP). In total, 203 studies were identified for screening, and 25 studies were eligible. The quality assessment rated four (16%) of the study as being of strong quality and 21 (84%) of these studies as being of moderate quality. The pendulum appliances showed mean molar distalization of 2-6.4 mm, distal tipping of molars from 6.67° to 14.50° and anchorage loss with mean premolar and incisor mesial movement of 1.63-3.6 mm and 0.9-6.5 mm, respectively. The bone anchored pendulum appliances (BAPAs) showed mean molar distalization of 4.8-6.4 mm, distal tipping of molars from 9° to 11.3° and mean premolar distalization of 2.7-5.4 mm. Pendulum and modified pendulum appliances are effective in molar distalization. Pendulum appliance with K-loop modification, implant supported pendulum appliance and BAPA significantly reduced anchorage loss of the anterior teeth and distal tipping of the molar teeth.

Exercise dependence and the drive for muscularity in male bodybuilders, power lifters, and fitness lifters.

Science.gov (United States)

Hale, Bruce D; Roth, Andrew D; DeLong, Ryan E; Briggs, Michael S

2010-06-01

Researchers have hypothesized differences in exercise dependence and drive for muscularity between bodybuilders and power lifters, while others have not found the predicted differences. This study assessed 146 weight lifters (bodybuilders, n=59; power lifters, n=47; fitness lifters, n=40) on the Exercise Dependence Scale, Bodybuilding Dependence Scale, and the Drive for Muscularity Scale. Results showed that bodybuilders and power lifters were significantly higher than fitness lifters on EDS Total, 7 EDS scales, and the 3 BDS scales. In contrast, power lifters were found to be significantly higher on DMS Total and DMS Behavior scales than bodybuilders. The regression results suggest that exercise dependence may be directly related to the drive for muscularity. 2010 Elsevier Ltd. All rights reserved.

Duchenne muscular dystrophy with associated growth hormone deficiency

International Nuclear Information System (INIS)

Ghafoor, T.; Mahmood, A.; Shams, S.

2003-01-01

A patient with duchenne muscular dystrophy (DMD) and growth hormone (GH) deficiency is described who had no clinical evidence of muscular weakness before initiation of GH replacement therapy. Treatment with human GH resulted in appearance of symptoms of easy fatigability and muscle weakness. Thorough investigations including serum creating phosphokinase (CK) levels in recommended in every patient with GH deficiency before starting GH replacement therapy. (author)

Intra-Articular Osteotomy for Distal Humerus Malunion

Directory of Open Access Journals (Sweden)

René K. Marti

2009-01-01

Full Text Available Intra-articular osteotomy is considered in the rare case of malunion after a fracture of the distal humerus to restore humeral alignment and gain a functional arc of elbow motion. Traumatic and iatrogenic disruption of the limited blood flow to the distal end of the humerus resulting in avascular necrosis of capitellum or trochlea is a major pitfall of the this technically challenging procedure. Two cases are presented which illustrate the potential problems of intra-articular osteotomy for malunion of the distal humerus.

A Pitfall in Fixation of Distal Humeral Fractures with Pre-Contoured Locking Compression Plate

Directory of Open Access Journals (Sweden)

Prakash Jayakumar

2015-04-01

Full Text Available Anatomically precontoured locking plates are intended to facilitate the fixation of articular fractures and particularly those associated with osteoporosis. Fractures of the distal humerus are relatively uncommon injuries where operative intervention can be exceptionally challenging. The distal humeral trochlea provides a very narrow anatomical window through which to pass a fixed-angle locking screw, which must also avoid the olecranon, coronoid, and radial fossae. We describe 3 patients (ages 27, 49, and 73 years with a bicolumnar fracture of the distal humerus where very short distal locking screws were used. Intra-articular screw placement was avoided but loss of fixation occurred in two patients and a third was treated with a prolonged period of immobilization. We postulate that fixed-angle screw trajectories may make it difficult for the surgeon to place screws of adequate length in this anatomically confined region, and may lead to insufficient distal fixation. Surgical tactics should include placement of as many screws as possible into the distal fragment, as long as possible, and that each screw pass through a plate without necessarily locking in.

Treatment of unstable distal radius fractures with Ilizarov circular, nonbridging external fixator.

Science.gov (United States)

Tyllianakis, Minos; Mylonas, Spyros; Saridis, Alkis; Kallivokas, Alkiviadis; Kouzelis, Antonis; Megas, Panagiotis

2010-03-01

Unstable distal radius fractures remain a challenge for the treating orthopaedic surgeon. We present a retrospective follow-up study (mean follow-up 12.5 months) of 20 patients with 21 unstable distal radius fractures that were reduced in a closed manner and stabilized with a nonbridging Ilizarov external fixator. Subsequent insertion of olive wires for interfragmentary compression was performed in cases with intra-articular fractures. According to the overall evaluation proposed by Gartland and Werley scoring system 12 wrists were classified as excellent, 6 as good, 2 as fair and 1 as poor. Grade II pin-tract infection in distal fracture fragment was detected in 3 wires from a total of 78 (3.8%) and in 4 half pins out of a total of 9 (44.4%). Pronation was the most frequently impaired movement. This was restricted in 4 patients (19%) in whom a radioulnar transfixing wire was applied. Symptoms of irritation of superficial sensory branch of the radial nerve occurred in 3 patients with an olive wire applied in a closed manner in the distal fragment. Ilizarov method yields functional results comparable to that of other methods whilst it avoids wrist immobilization, open reduction and reoperation for implant removal. The method is associated with a low rate of major complication and satisfactory functional outcome. Copyright 2009 Elsevier Ltd. All rights reserved.

Volar plating for distal radius fractures--do not trust the image intensifier when judging distal subchondral screw length.

Science.gov (United States)

Park, Derek H; Goldie, Boyd S

2012-09-01

The use of the volar plate to treat distal radius fractures is increasing but despite the theoretical advantages of a volar approach there have been reports of extensor tendon ruptures due to prominent screw tips protruding past the dorsal cortex. The valley in the intermediate column between Lister tubercle and the sigmoid notch of the distal radius makes it difficult to rely on fluoroscopy to judge screw length. Our aim was to quantify the dimensions of this valley and to demonstrate the danger of relying on intraoperative image intensification fluoroscopy to determine lengths of distal screws. We measured the depth of this valley in the intermediate column of the distal radius in 33 patients with computed tomographic (9 patients) or magnetic resonance image (24 patients) scans of the wrist. There was a consistent valley in all images examined [average 1.8 mm (95% confidence interval, 1.6-2.0 mm)]. Thirty-nine percent of wrists had a valley depth of at least 2 mm. Standard lateral views or rotation of the forearm to obtain oblique views does not identify prominent screw tips; and whatever the rotation of the forearm, screw tips protruding beyond dorsal cortex may look as if it is within the bone when in fact it is out. When drilling we suggest noting the depth at which the drill bit just penetrates dorsal cortex and routinely downsize the distal screw length by 2 mm. We caution against relying on flourosocopy when judging the length of the distal subchondral screws.

Report of 3 Cases of Emery-Dreifuss Muscular Dystrophy in a Family

Directory of Open Access Journals (Sweden)

P. Yazdanpanah

2004-01-01

Full Text Available Emery-Dreifuss muscular dystrophy (EDMDcan be seen in the middle childhood and the genetic patterns of them are X-linked recessive, autosomal dominant or recessive. The classic triad of this disease are: 1-early contractures, particularly of the elbows, achilles tendons, and posterior cervical muscles; 2-cardiac conduction defects ;and 3- a slowly progressive weakness and atrophy in a humeroperoneal distribution. The early onset of contractures before the onset of any significant weakness is unique to this disease. This case study was done in two 12 and 3.5 years old brothers and their 8 years old sister in a family. The first one referred to the medical center because of his weakness muscles of shoulders and arms. The second case was referred with tip toe walking which has been started 8 months ago. The third case was referred with difficulties in walking and sitting and surgery on achilles tendons for her and the first case was performed at 4 and 8 years ago respectively. In physical examination contractures of achilles tendons , weakness of pelvic girdle muscles, positive gowers sign and tip toe walking were observed in all three cases . Echocardiogram in both boys and CK enzyme in all 3 patients were normal. In ECGs atrial flutter with 3:1 AV block was seen in all 3 individuals. Muscle biopsy was nonspecific in the first case and mild focal atrophy was seen in the second case. Findings of myopathic patterns in electromyography were seen in all 3 patients. The genetic pattern of EDMD in this family is autosomal dominant. Stretching exercises and modalities such as ultrasound and hot pack were applied for these cases. The second was not responded and surgery of achilles tendons release was recommended for him.

CT finding and cerebrospinal fluid proteins in muscular dystrophy patients

Energy Technology Data Exchange (ETDEWEB)

Hirase, Tsutomu; Ide, Masami; Araki, Shukuro; Okamoto, Hiroshi (Kumamoto Univ. (Japan). School of Medicine); Kawasaki, Shoichiro; Imamura, Shigehiro

1983-06-01

We analyzed the microcomponents of protein fractions in the cerebrospinal fluid of patients with various types of muscular dystrophy. The degenerative pattern is characterized by an increase in the prealbumin and a decrease in the ..gamma..-globulin fraction is shown in the Duchenne and congenital muscular dystrophy. The increase in CSF IgG, ..gamma..-globulin fraction is shown in the myotonic dystrophy. In addition to the abnormality of IQ, EEG, and brain CT, abnormal CSF proteins obviously suggest the presence of CNS involvement in muscular dystrophy.

CT finding and cerebrospinal fluid proteins in muscular dystrophy patients

International Nuclear Information System (INIS)

Hirase, Tsutomu; Ide, Masami; Araki, Shukuro; Okamoto, Hiroshi; Kawasaki, Shoichiro; Imamura, Shigehiro.

1983-01-01

We analyzed the microcomponents of protein fractions in the cerebrospinal fluid of patients with various types of muscular dystrophy. The degenerative pattern is characterized by an increase in the prealbumin and a decrease in the γ-globulin fraction is shown in the Duchenne and congenital muscular dystrophy. The increase in CSF IgG, γ-globulin fraction is shown in the myotonic dystrophy. In addition to the abnormality of IQ, EEG, and brain CT, abnormal CSF proteins obviously suggest the presence of CNS involvement in muscular dystrophy. (author)

The Duchenne muscular dystrophy population in Denmark, 1977-2001: prevalence, incidence and survival in relation to the introduction of ventilator use

DEFF Research Database (Denmark)

Jeppesen, J; Green, A; Steffensen, B.F.

2003-01-01

Mechanical ventilation of patients with Duchenne muscular dystrophy continues to be a subject of study. The purpose was to estimate prevalence, incidence, mortality and use of mechanical ventilation in the total Duchenne muscular dystrophy population in Denmark between 1977 and 2001 and further....... While overall incidence remained stable at 2.0 per 105, prevalence rose from 3.1 to 5.5 per 105, mortality fell from 4.7 to 2.6 per 100 years at risk and prevalence of Duchenne muscular dystrophy ventilator users rose from 0.9 to 43.4 per 100. We conclude that survival of Duchenne muscular dystrophy...

Distal pancreatectomy and splenectomy: a robotic or LESS approach.

Science.gov (United States)

Ryan, Carrie E; Ross, Sharona B; Sukharamwala, Prashant B; Sadowitz, Benjamin D; Wood, Thomas W; Rosemurgy, Alexander S

2015-01-01

The role and application of robotic surgery are debated, particularly given the expansion of laparoscopy, especially laparoendoscopic single-site (LESS) surgery. This cohort study was undertaken to delineate differences in outcomes between LESS and robotic distal pancreatectomy and splenectomy. With Institutional Review Board approval, patients undergoing LESS or robotic distal pancreatectomy and splenectomy from September 1, 2012, through December 31, 2014, were prospectively observed, and data were collected. The results are expressed as the median, with the mean ± SD. Thirty-four patients underwent a minimally invasive distal pancreatectomy and splenectomy: 18 with robotic and 16 with LESS surgery. The patients were similar in sex, age, and body mass index. Conversions to open surgery and estimated blood loss were similar. There were two intraoperative complications in the group that underwent the robotic approach. Time spent in the operating room was significantly longer with the robot (297 vs 254 minutes, P = .03), although operative duration (i.e., incision to closure) was not longer (225 vs 190 minutes; P = .15). Of the operations studied, 79% were undertaken for neoplastic processes. Tumor size was 3.5 cm for both approaches; R0 resections were achieved in all patients. Length of stay was similar in the two study groups (5 vs 4 days). There was one 30-day readmission after robotic surgery. Patient outcomes are similar with LESS or robotic distal pancreatectomy and splenectomy. Robotic operations require more time in the operating room. Both are safe and efficacious minimally invasive operations that follow similar oncologic principles for similar tumors, and both should be in the surgeon's armamentarium for distal pancreatectomy and splenectomy.

[Optimal solution and analysis of muscular force during standing balance].

Science.gov (United States)

Wang, Hongrui; Zheng, Hui; Liu, Kun

2015-02-01

The present study was aimed at the optimal solution of the main muscular force distribution in the lower extremity during standing balance of human. The movement musculoskeletal system of lower extremity was simplified to a physical model with 3 joints and 9 muscles. Then on the basis of this model, an optimum mathematical model was built up to solve the problem of redundant muscle forces. Particle swarm optimization (PSO) algorithm is used to calculate the single objective and multi-objective problem respectively. The numerical results indicated that the multi-objective optimization could be more reasonable to obtain the distribution and variation of the 9 muscular forces. Finally, the coordination of each muscle group during maintaining standing balance under the passive movement was qualitatively analyzed using the simulation results obtained.

Emerging strategies for cell and gene therapy of the muscular dystrophies

OpenAIRE

Muir, Lindsey A.; Chamberlain, Jeffrey S.

2009-01-01

The muscular dystrophies are a heterogeneous group of over 40 disorders that are characterised by muscle weakness and wasting. The most common are Duchenne muscular dystrophy and Becker muscular dystrophy, which result from mutations within the gene encoding dystrophin; myotonic dystrophy type 1, which results from an expanded trinucleotide repeat in the myotonic dystrophy protein kinase gene; and facioscapulohumeral dystrophy, which is associated with contractions in the subtelomeric region ...

Rare Muscular Dystrophies: Congenital, Distal, Emery-Dreifuss and Oculopharyngeal Muscular Dystrophies

Science.gov (United States)

... at least some cases of CMD. Merosin normally anchors muscle cells to a structure that encases them ( ... and sometimes frozen joints at the elbows, hips, ankles or knees. This protein is believed to play ...

Conceptualizing distal drivers in land use competition

DEFF Research Database (Denmark)

Niewhöner, Jörg; Nielsen, Jonas Ø; Gasparri, Gasparri

2016-01-01

This introductory chapter explores the notion of ‘distal drivers’ in land use competition. Research has moved beyond proximate causes of land cover and land use change to focus on the underlying drivers of these dynamics. We discuss the framework of telecoupling within human–environment systems...... as a first step to come to terms with the increasingly distal nature of driving forces behind land use practices. We then expand the notion of distal as mainly a measure of Euclidian space to include temporal, social, and institutional dimensions. This understanding of distal widens our analytical scope...... for the analysis of land use competition as a distributed process to consider the role of knowledge and power, technology, and different temporalities within a relational or systemic analysis of practices of land use competition. We conclude by pointing toward the historical and social contingency of land use...

Muscular Dystrophy: Hope Through Research

Science.gov (United States)

... of muscular dystrophy appeared in 1830, when Sir Charles Bell wrote an essay about an illness that ... linked disorder to their sons but their daughters will be carriers of that disorder. Carrier females occasionally ...

Effect of short-term upper-body resistance training on muscular strength, bone metabolic markers, and BMD in premenopausal women

Directory of Open Access Journals (Sweden)

Liang MT

2012-11-01

Full Text Available Michael TC Liang,1 Lorena Quezada,1 WY Jamie Lau,1 Bulent Sokmen,2 Thomas W Spalding11Department of Kinesiology and Health Promotion, California State Polytechnic University, Pomona, CA, USA; 2Department of Kinesiology, Sonoma State University, Rohnert Park, CA, USAAbstract: To examine the effect of a 10-week upper-body resistance training program on bone turnover markers and site-specific bone mineral density (BMD in the wrist and distal half of the ulna and radius in untrained and healthy young premenopausal women.Methods: Twenty-two subjects (aged 22.1 ± 1.8 years were randomly assigned to a resistance training (n = 12 or no training control (n = 10 group. The following outcome variables were measured before and after 10 weeks of resistance training: (1 bone formation biomarker osteocalcin, and bone resorption biomarker tartrate-resistant acid phosphatase isoform 5b; (2 BMD in the wrist and distal half of the ulna and radius; (3 isokinetic strength of the elbow and knee extensors and flexors; (4 dynamic strength of the arm extensors and flexors; and (5 maximum number of push-ups.Results: The 10-week upper body resistance training intervention resulted in improved strength performance in push-ups (resistance training versus control: P < 0.05, chest presses (P < 0.05, and pulldowns (P < 0.05. However, there was no improvement in the BMD of the wrist (P > 0.05, BMD of the distal half of the ulna and radius (P > 0.05, and metabolic biomarkers osteocalcin (P > 0.05 and tartrate-resistant acid phosphatase isoform 5b (P > 0.05, except for the osteocalcin/tartrate-resistant acid phosphatase isoform 5b ratio. Also, no improvement in the resistance training group was observed for isokinetic strength of the knee and elbow flexion/extension.Conclusion: Upper-body muscular strength performance, but not bone metabolic markers and BMD of the wrist, can be improved with a 10-week upper body resistance training program of the nonweight-bearing limbs in

Meaning of Muscular Dystrophy

Science.gov (United States)

... is very similar to Duchenne, except kids with Becker MD may not have problems until much later, when they're teenagers or adults. It takes a long time for their muscles to become weak. How Does a Kid Get Muscular Dystrophy? MD is not contagious (say: con-TAY-juss), ...

Decreased Nocturnal Movements in Patients with Facioscapulohumeral Muscular Dystrophy

Science.gov (United States)

Marca, Giacomo Della; Frusciante, Roberto; Dittoni, Serena; Vollono, Catello; Losurdo, Anna; Testani, Elisa; Scarano, Emanuele; Colicchio, Salvatore; Iannaccone, Elisabetta; Tonali, Pietro A.; Ricci, Enzo

2010-01-01

Study Objectives: Reduced mobility during sleep characterizes a variety of movement disorders and neuromuscular diseases. Facioscapulohumeral muscular dystrophy (FSHD) is the third most common form of muscular dystrophy in the general population, and people with FSHD have poor sleep quality. The aims of the present study were to evaluate nocturnal motor activity in patients with FSHD by means of videopolysomnography and to verify whether activity was associated with modifications in sleep structure. Methods: We enrolled 32 adult patients affected by genetically confirmed FSHD (18 women and 14 men, mean age 45.1 ± 13.4 years) and 32 matched control subjects, (18 women and 14 men, mean age 45.5 ± 11.4 years). Major body movements (MBM) were scored in videopolygraphic recordings in accordance with established criteria. An MBM index was calculated (number of MBM per hour of sleep). Results: The FSHD group showed a decrease in the MBM index (FSHD: 1.2 ± 1.1; control subjects: 2.3 ± 1.2, analysis of variance F = 13.672; p = 0.008). The sleep pattern of patients with FSHD, as compared with that of controls, was characterized by longer sleep latencies, shorter sleep durations, an increased percentage of wake during sleep, and a decreased percentage of rapid eye movement sleep. In the patient group, the MBM index was inversely correlated with severity of disease (Spearman test: r30 = −0.387; p Marca GD; Frusciante R; Dittoni S; Vollono C; Losurdo A; Testani E; Scarano E; Colicchio S; Iannaccone E; Tonali PA; Ricci E. Decreased nocturnal movements in patients with facioscapulohumeral muscular dystrophy. J Clin Sleep Med 2010;6(3):276-280. PMID:20572422

Upper Body Muscular Endurance Among Children 2-5 Years.

Science.gov (United States)

Gabbard, Carl P.; And Others

The upper body muscular endurance of males and females 2-5 years of age was assessed, and relationships relative to sex, age, endurance and selected anthropometric measures were investigated. None of the relationships were found to be of practical predicative value; while upper body muscular strength increased with age, no significant differences…

Fractures of the distal phalanx in the horse

International Nuclear Information System (INIS)

Yovich, J.V.

1989-01-01

Fractures of the distal phalanx are an important cause of lameness referable to the foot. Depending on the fracture configuration and articular involvement, conservative or surgical treatment may be required. Fractures of the distal phalanx have been divided into six categories based on fracture configuration. Discussion of clinical features, management, and prognosis for horses with distal phalangeal fractures is presented for each fracture type

MR imaging of fukuyama congenital muscular dystrophy; a case report

International Nuclear Information System (INIS)

Yoo, Jeong Hyun; Kim, Yoo Kyung; Koo, Hae Soo; Park, Ki Deuk

2000-01-01

Fukuyama congenital muscular dystrophy is a genetic disease and common in Japan. The typical clinical features are hypotonia with an early infantile onset and severe developmental delay. The diagnosis is based on pathologic evidence of muscular dystrophy revealed by biopsy or an increased serum creatine kinase levels. Involvement of the brain is characterized by abnormal cerebral cortical dysplasia, cerebellar dysplasia, and white matter changes. We encountered a case of Fukuyama congenital muscular dystrophy in which brain MRI findings were typical, and present this case together with a review of the literature

Comparison of distal soft-tissue procedures combined with a distal chevron osteotomy for moderate to severe hallux valgus: first web-space versus transarticular approach.

Science.gov (United States)

Park, Yu-Bok; Lee, Keun-Bae; Kim, Sung-Kyu; Seon, Jong-Keun; Lee, Jun-Young

2013-11-06

There are two surgical approaches for distal soft-tissue procedures for the correction of hallux valgus-the dorsal first web-space approach, and the medial transarticular approach. The purpose of this study was to compare the outcomes achieved after use of either of these approaches combined with a distal chevron osteotomy in patients with moderate to severe hallux valgus. One hundred and twenty-two female patients (122 feet) who underwent a distal chevron osteotomy as part of a distal soft-tissue procedure for the treatment of symptomatic unilateral moderate to severe hallux valgus constituted the study cohort. The 122 feet were randomly divided into two groups: namely, a dorsal first web-space approach (group D; sixty feet) and a medial transarticular approach (group M; sixty-two feet). The clinical and radiographic results of the two groups were compared at a mean follow-up time of thirty-eight months. The American Orthopaedic Foot & Ankle Society (AOFAS) hindfoot scale hallux metatarsophalangeal-interphalangeal scores improved from a mean and standard deviation of 55.5 ± 12.8 points preoperatively to 93.5 ± 6.3 points at the final follow-up in group D and from 54.9 ± 12.6 points preoperatively to 93.6 ± 6.2 points at the final follow-up in group M. The mean hallux valgus angle in groups D and M was reduced from 32.2° ± 6.3° and 33.1° ± 8.4° preoperatively to 10.5° ± 5.5° and 9.9° ± 5.5°, respectively, at the time of final follow-up. The mean first intermetatarsal angle in groups D and M was reduced from 15.0° ± 2.8° and 15.3° ± 2.7° preoperatively to 6.5° ± 2.2° and 6.3° ± 2.4°, respectively, at the final follow-up. The clinical and radiographic outcomes were not significantly different between the two groups. The final clinical and radiographic outcomes between the two approaches for distal soft-tissue procedures were comparable and equally successful. Accordingly, the results of this study suggest that the medial transarticular

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies

NARCIS (Netherlands)

Maroofian, R.; Riemersma, M.; Jae, L.T.; Zhianabed, N.; Willemsen, M.H.; Wissink-Lindhout, W.M.; Willemsen, M.A.A.P.; Brouwer, A.P.M. de; Mehrjardi, M.Y.V.; Ashrafi, M.R.; Kusters, B.; Kleefstra, T.; Jamshidi, Y.; Nasseri, M.; Pfundt, R.; Brummelkamp, T.R.; Abbaszadegan, M.R.; Lefeber, D.J.; Bokhoven, H. van

2017-01-01

BACKGROUND: The phenotypic severity of congenital muscular dystrophy-dystroglycanopathy (MDDG) syndromes associated with aberrant glycosylation of alpha-dystroglycan ranges from the severe Walker-Warburg syndrome or muscle-eye-brain disease to mild, late-onset, isolated limb-girdle muscular

Epidemiology of distal forearm fractures in Oslo, Norway.

Science.gov (United States)

Lofthus, C M; Frihagen, F; Meyer, H E; Nordsletten, L; Melhuus, K; Falch, J A

2008-06-01

The population of Oslo has the highest incidence of hip fracture reported. The present study shows that the overall incidence of distal forearm fractures in Oslo is higher than in other countries and has not changed significantly when comparing the incidence of 1998/99 with 1979. The population of Oslo has the highest incidence of hip fracture reported. The present study reports the incidence of distal forearm fracture in Oslo and the fracture rates of immigrants. Patients aged > or = 20 years resident in Oslo sustaining a distal forearm fracture in a one-year period in 1998/99 were identified using electronic diagnosis registers, patient protocols, and/or X-ray registers of the clinics in Oslo. Medical records were obtained and the diagnosis verified. The age- and sex-specific incidence rates were calculated and compared with those for 1979. Data on immigrant category and country of origin of the patients were obtained. The age-adjusted fracture rates per 10,000 for the age group > or = 50 years were 109.8 and 25.4 in 1998/99 compared with 108.3 and 23.5 in 1979 for women and men, respectively (n.s.). The relative risk of fracture in Asians was 0.72 (95% CI 0.53-1.00) compared with ethnic Norwegians. The overall incidence of distal forearm fractures in Oslo is higher than in other countries and has not changed significantly when comparing the incidence of 1998/99 with 1979. Furthermore, the present data suggest that Asian immigrants in Oslo have a slightly lower fracture risk than ethnic Norwegians.

Posttraumatic osteolysis of the distal clavicula end

International Nuclear Information System (INIS)

Hermanns, P.H.; Beeger, R.; Koetter, D.; Hamburg Univ.

1981-01-01

Posttraumatic osteolysis of bone is rare. Its etiology is unknown. A case of posttraumatic osteolysis of the distal clavicle end is reported. Differentialdiagnostical and ethiological relations are discussed. The literature of posttraumatic osteolysis especially of distal clavicle osteolysis is reported. (orig.) [de

Dasatinib as a treatment for Duchenne muscular dystrophy.

Science.gov (United States)

Lipscomb, Leanne; Piggott, Robert W; Emmerson, Tracy; Winder, Steve J

2016-01-15

Identification of a systemically acting and universal small molecule therapy for Duchenne muscular dystrophy would be an enormous advance for this condition. Based on evidence gained from studies on mouse genetic models, we have identified tyrosine phosphorylation and degradation of β-dystroglycan as a key event in the aetiology of Duchenne muscular dystrophy. Thus, preventing tyrosine phosphorylation and degradation of β-dystroglycan presents itself as a potential therapeutic strategy. Using the dystrophic sapje zebrafish, we have investigated the use of tyrosine kinase and other inhibitors to treat the dystrophic symptoms in this model of Duchenne muscular dystrophy. Dasatinib, a potent and specific Src tyrosine kinase inhibitor, was found to decrease the levels of β-dystroglycan phosphorylation on tyrosine and to increase the relative levels of non-phosphorylated β-dystroglycan in sapje zebrafish. Furthermore, dasatinib treatment resulted in the improved physical appearance of the sapje zebrafish musculature and increased swimming ability as measured by both duration and distance of swimming of dasatinib-treated fish compared with control animals. These data suggest great promise for pharmacological agents that prevent the phosphorylation of β-dystroglycan on tyrosine and subsequent steps in the degradation pathway as therapeutic targets for the treatment of Duchenne muscular dystrophy. © The Author 2015. Published by Oxford University Press.

The importance of mdx mouse in the pathophysiology of Duchenne's muscular distrophy

OpenAIRE

Seixas, Sandra Lopes; Lagrota-Cândido, Jussara; Savino, Wilson; Quirico-Santos, Thereza

1997-01-01

O camundongo mdx desenvolve distrofia muscular recessiva ligada ao cromossoma X (locus Xp21.1) e não expressa distrofina. Embora não apresente intensa fibrose do tecido muscular e acúmulo de tecido adiposo, é considerado o modelo animal mais adequado da distrofia muscular de Duchenne. As alterações estruturais no tecido muscular associadas à mionecrose e presença do infiltrado inflamatório com predomínio de linfócitos e monócitos/macrófagos sugerem uma participação do sistema imunológico nest...

Three-stage treatment protocol for recalcitrant distal femoral nonunion.

Science.gov (United States)

Ma, Ching-Hou; Chiu, Yen-Chun; Tu, Yuan-Kun; Yen, Cheng-Yo; Wu, Chin-Hsien

2017-04-01

In this study, we proposed a three-stage treatment protocol for recalcitrant distal femoral nonunion and aimed to analyze the clinical results. We retrospective reviewed 12 consecutive patients with recalcitrant distal femoral nonunion undergoing our three-stage treatment protocol from January 2010 to December 2014 in our institute. The three-stage treatment protocol comprised debridement of the nonunion site, lengthening to eliminate leg length discrepancy, deformity correction, stabilization with a locked plate, filling of the defect with cement spacer for inducing membrane formation, and bone reconstruction using a cancellous bone autograft (Masquelet technique) or free vascularized fibular bone graft. The bone union time, wound complication, lower limbs alignment, amount of lengthening, knee range of motion, and functional outcomes were evaluated. Osseous union with angular deformity lengthening was 5.88 cm (range 3.5-12 cm). Excellent or good outcomes were obtained in 9 patients. Although the current study involved only a small number of patients and the intervention comprised three stages, we believe that such a protocol may be a valuable alternative for the treatment of recalcitrant distal femoral nonunion.

Distal posterior cerebral artery aneurysms: Retrospective review of characteristics and endovascular treatment

International Nuclear Information System (INIS)

Baek, Jin Wook; Jeong, Bae Woong; Seung, Won Bae

2016-01-01

The objective of this study was to review the clinical outcome after treatment of distal posterior cerebral artery (PCA) aneurysms via endovascular approach. Eleven patients with 11 distal PCA aneurysms who were treated via endovascular approach in Inje University Busan Paik Hospital and Kosin University Gospel Hospital from December 2002 to December 2013 were retrospectively reviewed. Among the 11 patients, there were 3 males (27.3%) and 8 females (72.7%). The mean age was 56.6 years (range 44 -72 years) and the mean aneurysm size was 8.45 mm (3 - 30 mm). Four (36.4%) aneurysms were located in the P2 segment, 6 (54.5%) in the P3 segment and 1 (9.1%) in the P1/2 junction. Seven (63.6%) aneurysms were treated with preservation of the parent artery; and the remaining 4 (36.4%) aneurysms were treated with parent artery occlusion. After treatment, the overall complication rate was 27% with the morbidity rate of 9.1% and the mortality rate of 18%. Endovascular treatment of distal PCA aneurysm might be used to minimize neurologic deficit, considering the diverse and rich collaterals of posterior cerebral artery

Distal posterior cerebral artery aneurysms: Retrospective review of characteristics and endovascular treatment

Energy Technology Data Exchange (ETDEWEB)

Baek, Jin Wook [Dept. of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of); Jeong, Bae Woong [Dept. of Diagnostic Radiology, Inje University College of Medicine, Busan Paik Hospital, Busan (Korea, Republic of); Seung, Won Bae [Dept. of Neurosurgery, Kosin University College of Medicine, Gospel Hospital, Busan (Korea, Republic of)

2016-04-15

The objective of this study was to review the clinical outcome after treatment of distal posterior cerebral artery (PCA) aneurysms via endovascular approach. Eleven patients with 11 distal PCA aneurysms who were treated via endovascular approach in Inje University Busan Paik Hospital and Kosin University Gospel Hospital from December 2002 to December 2013 were retrospectively reviewed. Among the 11 patients, there were 3 males (27.3%) and 8 females (72.7%). The mean age was 56.6 years (range 44 -72 years) and the mean aneurysm size was 8.45 mm (3 - 30 mm). Four (36.4%) aneurysms were located in the P2 segment, 6 (54.5%) in the P3 segment and 1 (9.1%) in the P1/2 junction. Seven (63.6%) aneurysms were treated with preservation of the parent artery; and the remaining 4 (36.4%) aneurysms were treated with parent artery occlusion. After treatment, the overall complication rate was 27% with the morbidity rate of 9.1% and the mortality rate of 18%. Endovascular treatment of distal PCA aneurysm might be used to minimize neurologic deficit, considering the diverse and rich collaterals of posterior cerebral artery.

Effect of Resistance Training Frequency on Gains in Muscular Strength: A Systematic Review and Meta-Analysis.

Science.gov (United States)

Grgic, Jozo; Schoenfeld, Brad J; Davies, Timothy B; Lazinica, Bruno; Krieger, James W; Pedisic, Zeljko

2018-05-01

Current recommendations on resistance training (RT) frequency for gains in muscular strength are based on extrapolations from limited evidence on the topic, and thus their practical applicability remains questionable. To elucidate this issue, we conducted a systematic review and meta-analysis of the studies that compared muscular strength outcomes with different RT frequencies. To carry out this review, English-language literature searches of the PubMed/MEDLINE, Scopus, and SPORTDiscus databases were conducted. The meta-analysis was performed using a random-effects model. The meta-analysis models were generated with RT frequencies classified as a categorical variable as either 1, 2, 3, or 4+ times/week, or, if there were insufficient data in subgroup analyses, the training frequencies were categorized as 1, 2, or 3 times/week. Subgroup analyses were performed for potential moderators, including (1) training volume; (2) exercise selection for the 1 repetition maximum (RM) test (for both multi-joint and single-joint exercises); (3) upper and lower body strength gains; (4) training to muscular failure (for studies involving and not involving training to muscular failure); (5) age (for both middle-aged/older adults and young adults); and (6) sex (for men and for women). The methodological quality of studies was appraised using the modified Downs and Black checklist. A total of 22 studies were found to meet the inclusion criteria. The average score on the Downs and Black checklist was 18 (range 13-22 points). Four studies were classified as being of good methodological quality, while the rest were classified as being of moderate methodological quality. Results of the meta-analysis showed a significant effect (p = 0.003) of RT frequency on muscular strength gains. Effect sizes increased in magnitude from 0.74, 0.82, 0.93, and 1.08 for training 1, 2, 3, and 4+ times per week, respectively. A subgroup analysis of volume-equated studies showed no significant effect (p

A STUDY OF SURGICAL MANAGEMENT OF DISTAL FEMORAL FRACTURES BY DISTAL FEMORAL LOCKING COMPRESSION PLATE OSTEOSYNTHESIS

Directory of Open Access Journals (Sweden)

Dema Rajaiah

2016-08-01

Full Text Available AIMS AND OBJECTIVES To study the fractures of distal end of femur and the mechanism of injury in distal end femur fractures, the advantages and disadvantages of open reduction and internal fixation of distal end femur fractures by distal femoral locking compression plate osteosynthesis and to analyse the outcome in terms of range of Knee motion, time to union, and limb shortening. RESULTS The mean age of patient is 44 years, 85% are males, road traffic accidents account for majority (80%, right side involved in 70%, Muller’s type C fracture is common, good range of movements is seen 90% of cases and union occurred in 95% in 5 months. The results were assessed using Neer’s score, seven (35% patients had excellent results, eight (40% patients had good results, four (20% patients had fair results and one (5% patient had poor result. CONCLUSION From our study, we conclude that DF-LCP is a safe and reliable implant and has shown excellent to satisfactory results in majority of intra-articular fractures (AO type C. Fixation with locking compression plate showed more effectiveness in severely osteoporotic bones, shorter operative stay, faster recovery, faster union rates and excellent functional outcome.

Clinical and angiographic evaluation of the topic application of nitrate compounds in obstructive distal arteriopathies of the legs

International Nuclear Information System (INIS)

Perini, L.; Cavallo, A.; Perin, B.; Natale, F.; Borelli, G.; Bisiato, R.

1988-01-01

The vasodilatator effect obtained by the topic use of a nytroglycerin compound (TNG) has been angiographically tested on 11 patients affected by distal arteriopathy of the legs. All patients presented arteriosclerotic vascular lesions; two of them also suffered from diabetic angiopathy. Arteriography of the legs has proved to be a very important tool in the evaluation of the patients'response to the administration of the drug. An hour after 80 mg of TNG had been applied to the skin of the examined leg, arteriography showed a marked dilatation, especially of the muscular arteries and the undamaged tracts of the arteries of the legs. Angiographic evaluation of the functional blood supply thus obtained provides prognostic information and helps in the choice of the subsequent therapy. Furthermore, the clinical efficacy of prolonged treatment with this drug has been tested in 10 out of the 11 patients. They all responded with an immediate and persistent hemodynamic improvement, evaluated according to Fontaine's classification

Multi-modal distraction. Using technology to combat pain in young children with burn injuries.

Science.gov (United States)

Miller, Kate; Rodger, Sylvia; Bucolo, Sam; Greer, Ristan; Kimble, Roy M

2010-08-01

The use of non-pharmacological pain management remains adhoc within acute paediatric burns pain management protocols despite ongoing acknowledgement of its role. Advancements in adult based pain services including the integration of virtual reality has been adapted to meet the needs of children in pain, as exemplified by the development of multi-modal distraction (MMD). This easy to use, hand held interactive device uses customized programs designed to inform the child about the procedure he/she is about to experience and to distract the child during dressing changes. (1) To investigate if either MMD procedural preparation (MMD-PP) or distraction (MMD-D) has a greater impact on child pain reduction compared to standard distraction (SD) or hand held video game distraction (VG), (2) to understand the impact of MMD-PP and MMD-D on clinic efficiency by measuring length of treatment across groups, and lastly, (3) to assess the efficacy of distraction techniques over three dressing change procedures. A prospective randomised control trial was completed in a paediatric tertiary hospital Burns Outpatient Clinic. Eighty participants were recruited and studied over their first three dressing changes. Pain was assessed using validated child report, caregiver report, nursing observation and physiological measures. MMD-D and MMD-PP were both shown to significantly relieve reported pain (ppositive effects of both MMD-D and MMD-PP were sustained with subsequent dressing changes. The use of MMD as a preparatory or a distraction tool in an outpatient burns clinic offered superior pain reduction across three dressing changes to children when compared to standard practices or hand held video games. This device has the potential to improve clinic efficiency with reductions in treatment lengths.

Distal radioulnar joint injuries

Directory of Open Access Journals (Sweden)

Binu P Thomas

2012-01-01

Full Text Available Distal radioulnar joint is a trochoid joint relatively new in evolution. Along with proximal radioulnar joint , forearm bones and interosseous membrane, it allows pronosupination and load transmission across the wrist. Injuries around distal radioulnar joint are not uncommon, and are usually associated with distal radius fractures,fractures of the ulnar styloid and with the eponymous Galeazzi or Essex_Lopresti fractures. The injury can be purely involving the soft tissue especially the triangular fibrocartilage or the radioulnar ligaments.The patients usually present with ulnar sided wrist pain, features of instability, or restriction of rotation. Difficulty in carrying loads in the hand is a major constraint for these patients. Thorough clinical examination to localize point of tenderness and appropriate provocative tests help in diagnosis. Radiology and MRI are extremely useful, while arthroscopy is the gold standard for evaluation. The treatment protocols are continuously evolving and range from conservative, arthroscopic to open surgical methods. Isolated dislocation are uncommon. Basal fractures of the ulnar styloid tend to make the joint unstable and may require operative intervention. Chronic instability requires reconstruction of the stabilizing ligaments to avoid onset of arthritis. Prosthetic replacement in arthritis is gaining acceptance in the management of arthritis.

Prevalence of cardiomyopathy in duchenne and becker's muscular dystrophy

International Nuclear Information System (INIS)

Sultan, A.; Fayaz, M.

2008-01-01

Cardiac assessment was not done routinely in Duchenne (DMD) and Becker muscular dystrophy (BMD) patients in Northern region of England while evidence was gathering on progressive cardiomyopathy in these patients. We wanted to find out the prevalence, progression and clinical features of cardiac involvement in Duchenne and Becker muscular dystrophy. Methods: It is a retrospective review of clinical, electrocardiographic and echocardiographic assessments. The notes of 52 Duchenne and Becker muscular dystrophy patients were reviewed out of which 32 had DMD, 6 had Intermediate muscular dystrophy (IMD) and 14 had BMD. Prevalence of preclinical and clinically evident cardiac involvement was 88.4% in DMD and BMD patients. Sixty nine% of patients had clinically evident cardiac involvement but only four patients had cardiac symptoms in the form of palpitations, out of which two were due to respiratory dysfunction and others was due to cardiac failure. Clinical examination of the rest of all of the patients was unremarkable. Electrocardiogram was abnormal in 88.4% of patients. Conduction defects were found in 19.4% of patients. Echocardiogram was abnormal in 80.7% of patients but all were poor echo subjects including those who had normal echocardiogram. Though most patients were asymptomatic, a high percentage had evidence of preclinical and clinically evident cardiac involvement. So in all patients with Xp21 linked muscular dystrophy a routine baseline cardiac assessment should be done at the age of 10 years and reviewed after intervals of one to two years. (author)

Anthropometric Measurements of the Human Distal Femur: A Study of the Adult Malay Population

Directory of Open Access Journals (Sweden)

Fitdriyah Hussain

2013-01-01

Full Text Available The distal femurs of 100 subjects (50 men, 50 women from the Malay population aged between 19 and 38 years were scanned to measure the anterior-posterior (AP and medial-lateral (ML width. The mean AP values were 64.02 ± 3.38 mm and 57.33 ± 3.26 mm for men and women, respectively, and the mean ML values were 74.91 ± 3.52 mm and 64.53 ± 3.07 mm. We compared our data to that published previously for the Chinese and Indian populations. It was found that the Malay population had smaller distal femur than that of the Chinese but was larger than that of the Indian population (P < 0.05. In conclusion, although it is well established that Asians have a smaller distal femur size than that of the Western population, the variations in different Asian ethnicities may need to be considered when designing the appropriate knee implant.

Anthropometric measurements of the human distal femur: a study of the adult Malay population.

Science.gov (United States)

Hussain, Fitdriyah; Abdul Kadir, Mohammed Rafiq; Zulkifly, Ahmad Hafiz; Sa'at, Azlin; Aziz, Azian Abd; Hossain, Golam; Kamarul, T; Syahrom, Ardiyansyah

2013-01-01

The distal femurs of 100 subjects (50 men, 50 women) from the Malay population aged between 19 and 38 years were scanned to measure the anterior-posterior (AP) and medial-lateral (ML) width. The mean AP values were 64.02 ± 3.38 mm and 57.33 ± 3.26 mm for men and women, respectively, and the mean ML values were 74.91 ± 3.52 mm and 64.53 ± 3.07 mm. We compared our data to that published previously for the Chinese and Indian populations. It was found that the Malay population had smaller distal femur than that of the Chinese but was larger than that of the Indian population (P < 0.05). In conclusion, although it is well established that Asians have a smaller distal femur size than that of the Western population, the variations in different Asian ethnicities may need to be considered when designing the appropriate knee implant.

Biological, Psychological, and Sociocultural Factors Contributing to the Drive for Muscularity in Weight-Training Men

Science.gov (United States)

Schneider, Catharina; Rollitz, Laura; Voracek, Martin; Hennig-Fast, Kristina

2016-01-01

The drive for muscularity and associated behaviors (e.g., exercising and dieting) are of growing importance for men in Western societies. In its extreme form, it can lead to body image concerns and harmful behaviors like over-exercising and the misuse of performance-enhancing substances. Therefore, investigating factors associated with the drive for muscularity, especially in vulnerable populations like bodybuilders and weight trainers can help identify potential risk and protective factors for body image problems. Using a biopsychosocial framework, the aim of the current study was to explore different factors associated with drive for muscularity in weight-training men. To this purpose, German-speaking male weight trainers (N = 248) completed an online survey to determine the extent to which biological, psychological, and sociocultural factors contribute to drive for muscularity and its related attitudes and behaviors. Using multiple regression models, findings showed that media ideal body internalization was the strongest positive predictor for drive for muscularity, while age (M = 25.9, SD = 7.4) held the strongest negative association with drive for muscularity. Dissatisfaction with muscularity, but not with body fat, was related to drive for muscularity. The fat-free mass index, a quantification of the actual degree of muscularity of a person, significantly predicted drive for muscularity-related behavior but not attitudes. Body-related aspects of self-esteem, but not global self-esteem, were significant negative predictors of drive for muscularity. Since internalization of media body ideals presented the highest predictive value for drive for muscularity, these findings suggest that media body ideal internalizations may be a risk factor for body image concerns in men, leading, in its most extreme form to disordered eating or muscle dysmorphia. Future research should investigate the relations between drive for muscularity, age, body composition

Força muscular respiratória e perfil postural e nutricional em crianças com doenças neuromusculares

Directory of Open Access Journals (Sweden)

Jaqueline Fernandes Pontes

Full Text Available INTRODUÇÃO: As doenças neuromusculares infantis são crônicas, degenerativas e determinam alterações funcionais, musculares e nutricionais. OBJETIVOS: Avaliar sistematicamente a força muscular respiratória e o perfil postural e nutricional de crianças com doenças neuromusculares em seguimento multidisciplinar institucional. MATERIAIS E MÉTODOS: Foram estudados pacientes com diferentes doenças neuromusculares por meio da verificação da força muscular respiratória, da avaliação nutricional de massa muscular, do índice de massa corpórea e da porcentagem (% de gordura corporal, além de avaliação postural e dos padrões de movimento. RESULTADOS: Foram avaliados 41 sujeitos. As crianças do sexo masculino predominaram na população em estudo, sendo 82,9% dela (n = 34, e os outros 17,1% (n = 7 eram do sexo feminino. A média de idade encontrada foi de 9,65 ± 3,11 anos. O principal diagnóstico encontrado foi Distrofia Muscular de Duchenne, 43,9% (n = 18, seguido de Atrofia Muscular Espinhal, 9,75% (n = 4, Distrofia Congênita, 7,31% (n = 3, Distrofia Muscular de Cinturas, Polineuropatia e Miopatia Congênita, todos com 4,9% (n = 2, além de Distrofia Muscular Progressiva, Miastenia Grávis, Charcoot Marie Toot, Emery Dreifuss, encontrados em 2,43% (n = 1. Foi verificada uma diminuição da força muscular respiratória (PImáx = 81 ± 24,3 cmH2O, 91% predito e PEmáx = 70 ± 29,6 cmH2O, 72% predito, mais evidente nos músculos expiratórios. A Hiperlordose lombar foi encontrada em 26 pacientes (64% e 9 pacientes (22% já haviam perdido a capacidade de deambular. Em relação ao perfil nutricional, 90% dos pacientes (n = 30 mostraram uma alta incidência de perda de reserva muscular e 52% deles (n = 13 apresentaram a porcentagem de gordura corporal abaixo do aceitável. CONCLUSÃO: A avaliação multidisciplinar das doenças neuromusculares pediátricas podem auxiliar no estabelecimento de tratamento precoce da Fisioterapia para

Contemporary Management of Primary Distal Urethral Cancer

NARCIS (Netherlands)

Traboulsi, S.L.; Witjes, J.A.; Kassouf, W.

2016-01-01

Primary urethral cancer is one of the rare urologic tumors. Distal urethral tumors are usually less advanced at diagnosis compared with proximal tumors and have a good prognosis if treated appropriately. Low-stage distal tumors can be managed successfully with a surgical approach in men or radiation

Distal technologies and type 1 diabetes management.

Science.gov (United States)

Duke, Danny C; Barry, Samantha; Wagner, David V; Speight, Jane; Choudhary, Pratik; Harris, Michael A

2018-02-01

Type 1 diabetes requires intensive self-management to avoid acute and long-term health complications. In the past two decades, substantial advances in technology have enabled more effective and convenient self-management of type 1 diabetes. Although proximal technologies (eg, insulin pumps, continuous glucose monitors, closed-loop and artificial pancreas systems) have been the subject of frequent systematic and narrative reviews, distal technologies have received scant attention. Distal technologies refer to electronic systems designed to provide a service remotely and include heterogeneous systems such as telehealth, mobile health applications, game-based support, social platforms, and patient portals. In this Review, we summarise the empirical literature to provide current information about the effectiveness of available distal technologies to improve type 1 diabetes management. We also discuss privacy, ethics, and regulatory considerations, issues of global adoption, knowledge gaps in distal technology, and recommendations for future directions. Copyright © 2018 Elsevier Ltd. All rights reserved.

Respuesta hemodinámica con el entrenamiento en resistencia y fuerza muscular de miembros superiores en rehabilitación cardiaca Hemodynamic response to training in resistance and muscular strength of upper limbs in cardiac rehabilitation

Directory of Open Access Journals (Sweden)

Diana M Camargo

2007-08-01

39.1% (3.9 lb of the maximal resistance (17%-80% in the general population, being of 39.5% (4.3 lb and of 37.4% (2.2 lb for men and women respectively. During the load lifting, the systolic arterial pressure response was 121.6 mm Hg, 122.3 mm Hg and 118.5 mm Hg for the total population, men and women respectively and the diastolic arterial pressure was 75 mm Hg, 75.5 mm Hg and 73.3 mm Hg, respectively. No cardiac arrhythmias, electrical changes in the ST segment nor signs or cardiovascular adverse symptoms were evidenced. Conclusions: aerobic treatment accompanied by muscular strength resistance exercises in patients who are in cardiovascular rehabilitation stage II is effective as long as an adequate evaluation, prescription and exercise monitoring are made, thus allowing a safe participation in daily life activities, those of free time, recreational and labor activities, so that a better and greater social and familiar integration is obtained.

Tratamento da pseudo-artrose do terço distal do rádio Treatment of nounion in the third distal of the radio

Directory of Open Access Journals (Sweden)

Marco Aurélio Sertório Grecco

2005-01-01

Full Text Available Os autores apresentaram um estudo prospectivo de quatro pacientes portadores de pseudo-artrose no terço distal do rádio. Dois eram do sexo feminino e dois do masculino, com idade média de 42,5 anos. O diagnóstico de pseudo-artrose foi realizado em média com 5,3 meses após o trauma. Um paciente apresentava, como antecedente mórbido pessoal, epilepsia e osteoporose, outros dois relataram tabagismo e obesidade e o quarto, fratura exposta. O tratamento consistiu de osteossíntese interna e enxertia com osso autógeno. Todos foram submetidos à avaliação clínica pré e pós-operatória quanto à força de preensão palmar e arco de movimentos do punho. Houve 100% de consolidação das fraturas do terço distal do rádio em pseudo-artrose e retorno dos pacientes às atividades profissionais.The authors presented a prospective study of four patients presenting pseudarthrosis at the distal third of the radius. Two patients were females and two were males, aged between 29 and 51 years with a mean age of 42.5 year old. The diagnosis of pseudarthrosis was provided within an average of 5.3 months after trauma. One patient presented as personal morbid history, epilepsy and osteoporosis, two patients were smokers and obese, and the fourth had an open fracture. The treatment consisted of internal osteosynthesis and autogenous bone graft. All patients were submitted to pre- and post operative clinical evaluation for palmar holding force and movement arch of the wrist. 100% of the radius distal-third fractures in pseudarthrosis have been united, with all patients returning to their respective professional activities.

Mild and severe muscular dystrophy caused by a single {gamma}-sarcoglycan mutation

Energy Technology Data Exchange (ETDEWEB)

McNally, E.M.; Boennemann, C.G.; Lidov, H.G.W. [Brigham and Women`s Hospital, Boston, MA (United States)] [and others

1996-11-01

Autosomal recessive muscular dystrophy is genetically heterogeneous. One form of this disorder, limb-girdle muscular dystrophy type 2C (LGMD 2C), is prevalent in northern Africa and has been shown to be associated with a single mutation in the gene encoding the dystrophin-associated protein {gamma}-sarcoglycan. The previous mutation analysis of {gamma}-sarcoglycan required the availability of muscle biopsies. To establish a mutation assay for genomic DNA, the intron-exon structure of the {gamma}-sarcoglycan gene was determined, and primers were designed to amplify each of the exons encoding {gamma}-sarcoglycan. We studied a group of Brazilian muscular dystrophy patients for mutations in the {gamma}-sarcoglycan gene. These patients were selected on the basis of autosomal inheritance and/or the presence of normal dystrophin and/or deficiency of {alpha}-sarcoglycan immunostaining. Four of 19 patients surveyed had a single, homozygous mutation in the {gamma}-sarcoglycan gene. The mutation identified in these patients, all of African-Brazilian descent, is identical to that seen in the North African population, suggesting that even patients of remote African descent may carry this mutation. The phenotype in these patients varied considerably. Of four families with an identical mutation, three have a severe Duchenne-like muscular dystrophy. However, one family has much milder symptoms, suggesting that other loci may be present that modify the severity of the clinical course resulting from {gamma}-sarcoglycan gene mutations. 19 refs., 5 figs., 3 tabs.

CT virtual reality in the preoperative workup of malunited distal radius fractures: preliminary results

International Nuclear Information System (INIS)

Rieger, Michael; Gruber, Hannes; Jaschke, Werner R.; Gabl, Markus; Mallouhi, Ammar

2005-01-01

Our objective was to evaluate the usefulness of CT virtual preoperative planning in the surgical repositioning of malunited distal radius fracture. Eleven patients with malunited distal radius fracture underwent multislice CT of both wrists. A preoperative workup was performed in a virtual reality environment created from the CT data sets. Virtual planning comprised three main procedures, carrying out the virtual osteotomy of the radius, prediction of the final position of the distal radius after osteotomy and computer-assisted manufacturing of a repositioning device, which was later placed at the surgical osteotomy site to reposition objectively the distal radius fragment before fixation with the osteosynthesis. All patients tolerated the surgical procedure well. During surgery, the orthopedic surgeons were not required in any of the cases to alter the position of the distal radius that was determined by the repositioning device. At postoperative follow-up, the anatomic relationship of the distal radius was restored (radial inclination, 21.4 ; volar tilt, 10.3 ; ulnar variance, 0.5 mm). Clinically, a significant improvement of pronation (P=0.012), supination (P=0.01), flexion (P=0.001) and extension (P=0.006) was achieved. Pain decreased from 54 to 7 points. CT virtual reality is a valuable adjunct for the preoperative workup and surgical reposition of malunited distal radius fractures. (orig.)

The Role of Adiposity in the Association between Muscular Fitness and Cardiovascular Disease.

Science.gov (United States)

Pérez-Bey, Alejandro; Segura-Jiménez, Víctor; Fernández-Santos, Jorge Del Rosario; Esteban-Cornejo, Irene; Gómez-Martínez, Sonia; Veiga, Oscar L; Marcos, Ascensión; Castro-Piñero, José

2018-05-11

To test the associations of muscular fitness and body mass index (BMI), individually and combined, with clustered cardiovascular disease risk factors in children and adolescents and to analyze the mediator role of BMI in the association between muscular fitness and clustered cardiovascular disease risk factors. In total, 239 children (113 girls) and 270 adolescents (128 girls) participated in this cross-sectional study. Height and weight were assessed, and BMI was calculated. A cardiovascular disease risk factors index (CVDRF-I) was created from the combination of the following variables: waist circumference, systolic blood pressure, triglycerides, high-density lipoprotein cholesterol, and glucose. Handgrip strength/weight and standing long jump tests were used to assess muscular fitness. A muscular fitness index was computed from the combination of both tests. Muscular fitness index was associated with CVDRF-I in children of both sexes and adolescent boys; however, these associations disappeared after accounting for BMI. BMI was associated with CVDRF-I in both children and adolescents, even after adjusting for muscular fitness (all P < .001). In male and female children and in adolescent boys, the association between muscular fitness and CVDRF-I was mediated by BMI (all P < .001). Because there was no association between muscular fitness and CVDRF-I in adolescent girls, the mediation hypothesis was discarded. BMI is an independent predictor of CVDRF-I in children and adolescents of both sexes. Conversely, the effect of muscular fitness on CVDRF-I seems to be fully mediated by BMI levels in male and female children and in adolescent boys. Copyright © 2018 Elsevier Inc. All rights reserved.

Intra-articular osteotomy for distal humerus malunion

NARCIS (Netherlands)

Marti, René K.; Doornberg, Job

2009-01-01

Intra-articular osteotomy is considered in the rare case of malunion after a fracture of the distal humerus to restore humeral alignment and gain a functional arc of elbow motion. Traumatic and iatrogenic disruption of the limited blood flow to the distal end of the humerus resulting in avascular

Distal Communication by Chimpanzees (Pan troglodytes): Evidence for Common Ground?

Science.gov (United States)

Leavens, David A; Reamer, Lisa A; Mareno, Mary Catherine; Russell, Jamie L; Wilson, Daniel; Schapiro, Steven J; Hopkins, William D

2015-01-01

van der Goot et al. (2014) proposed that distal, deictic communication indexed the appreciation of the psychological state of a common ground between a signaler and a receiver. In their study, great apes did not signal distally, which they construed as evidence for the human uniqueness of a sense of common ground. This study exposed 166 chimpanzees to food and an experimenter, at an angular displacement, to ask, "Do chimpanzees display distal communication?" Apes were categorized as (a) proximal or (b) distal signalers on each of four trials. The number of chimpanzees who communicated proximally did not statistically differ from the number who signaled distally. Therefore, contrary to the claim by van der Goot et al., apes do communicate distally. © 2015 The Authors. Child Development © 2015 Society for Research in Child Development, Inc.

Development of Non-Hormonal Steroids for the Treatment of Duchenne Muscular Dystrophy

Science.gov (United States)

2013-02-01

constructs envisioned in gene therapy, are also expressed in Becker muscular dystrophy (alleles of dystrophinopathy leading to milder disease). In other words...the Treatment of Duchenne Muscular Dystrophy PRINCIPAL INVESTIGATOR: Terence Partridge, PhD CONTRACTING ORGANIZATION: Children’s...Duchenne Muscular Dystrophy 5a. CONTRACT NUMBER 5b. GRANT NUMBER W81XWH-11-1-0754 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) Terence Partridge

How Physicians Support Mothers of Children with Duchenne Muscular Dystrophy.

Science.gov (United States)

Fujino, Haruo; Saito, Toshio; Matsumura, Tsuyoshi; Shibata, Saki; Iwata, Yuko; Fujimura, Harutoshi; Shinno, Susumu; Imura, Osamu

2015-09-01

Communicating about Duchenne muscular dystrophy and its prognosis can be difficult for affected children and their family. We focused on how physicians provide support to the mothers of children with Duchenne muscular dystrophy who have difficulty communicating about the condition with their child. The eligible participants were certified child neurologists of the Japanese Society of Child Neurology. Participants responded to questionnaires consisting of free descriptions of a vignette of a child with Duchenne muscular dystrophy and a mother. We analyzed 263 responses of the participants. We found 4 themes on advising mothers, involving encouraging communication, family autonomy, supporting family, and considering the child's concerns. These results provide a better understanding of the communication between physicians and family members who need help sharing information with a child with Duchenne muscular dystrophy. These findings will assist clinical practitioners in supporting families and the affected children throughout the course of their illness. © The Author(s) 2015.

Serum creatinine level: a supplemental index to distinguish Duchenne muscular dystrophy from Becker muscular dystrophy.

Science.gov (United States)

Zhang, Huili; Zhu, Yuling; Sun, Yiming; Liang, Yingyin; Li, Yaqin; Zhang, Yu; Deng, Langhui; Wen, Xingxuan; Zhang, Cheng

2015-01-01

To improve assessment of dystrophinopathy, the aim of this study was to identify whether serum creatinine (Crn) level reflects disease severity. Biochemical, Vignos score, and genetic data were collected on 212 boys with dystrophinopathy. Serum Crn level had a strong inverse correlation with Vignos score by simple correlation (r = -0.793) and partial correlation analysis after adjustment for age, height, and weight (r = -0.791; both P Becker muscular dystrophy (BMD) patients than Duchenne muscular dystrophy (DMD) patients at ages 4, 5, 7, and 9 yr (all P < 0.0125). After adjusting for age, height, and weight, BMD patients still had a significantly higher serum Crn level than DMD patients (β = 7.140,  t = 6.277,  P < 0.01). Serum Crn level reflected disease severity and may serve as a supplemental index to distinguish DMD from BMD in clinical practice.

Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch.

Science.gov (United States)

Waddell, Leigh B; Lemckert, Frances A; Zheng, Xi F; Tran, Jenny; Evesson, Frances J; Hawkes, Joanne M; Lek, Angela; Street, Neil E; Lin, Peihui; Clarke, Nigel F; Landstrom, Andrew P; Ackerman, Michael J; Weisleder, Noah; Ma, Jianjie; North, Kathryn N; Cooper, Sandra T

2011-04-01

Mutations in dysferlin cause an inherited muscular dystrophy because of defective membrane repair. Three interacting partners of dysferlin are also implicated in membrane resealing: caveolin-3 (in limb girdle muscular dystrophy type 1C), annexin A1, and the newly identified protein mitsugumin 53 (MG53). Mitsugumin 53 accumulates at sites of membrane damage, and MG53-knockout mice display a progressive muscular dystrophy. This study explored the expression and localization of MG53 in human skeletal muscle, how membrane repair proteins are modulated in various forms of muscular dystrophy, and whether MG53 is a primary cause of human muscle disease. Mitsugumin 53 showed variable sarcolemmal and/or cytoplasmic immunolabeling in control human muscle and elevated levels in dystrophic patients. No pathogenic MG53 mutations were identified in 50 muscular dystrophy patients, suggesting that MG53 is unlikely to be a common cause of muscular dystrophy in Australia. Western blot analysis confirmed upregulation of MG53, as well as of dysferlin, annexin A1, and caveolin-3 to different degrees, in different muscular dystrophies. Importantly, MG53, annexin A1, and dysferlin localize to the t-tubule network and show enriched labeling at longitudinal tubules of the t-system in overstretch. Our results suggest that longitudinal tubules of the t-system may represent sites of physiological membrane damage targeted by this membrane repair complex.

Magnetic resonance imaging of skeletal muscle in patients with Duchenne muscular dystrophy; Serial axial and sagittal section studies

Energy Technology Data Exchange (ETDEWEB)

Nagao, Hideo (Ehime Univ., Matsuyama (Japan). Faculty of Education); Morimoto, Takehiko; Sano, Nozomi; Takahashi, Mitsugi; Nagai, Hironao; Tawa, Ritsuko; Yoshimatsu, Makoto; Woo Young-Jong; Matsuda, Hiroshi

1991-01-01

Magnetic resonance imaging of skeletal muscles in thirteen patients with Duchenne muscular dystrophy was performed to estimate pathological changes. Serial axial and sagittal sections of the right lower extremity were recorded. In the early stage, the T{sub 1} values of gastrocnemius and soleus muscles were slightly lower than the control values, and in the late stage, the values were much lower in all muscles examined. In sagittal sections, the gastrocnemius muscle in the early stage showed a high density area at the distal region adjacent to soleus muscle, and the soleus muscle showed a high density area adjacent to the gestrocnemius muscle. In serial axial sections, high density areas of the anterior and posterior tibialis muscles appeared first at their proximal and peripheral regions. It was concluded that the sequence of appearance of pathological changes was different not only among individual muscles but also among various regions of each muscle; the high density changes appeared first at myotendon junctions. (author).

Proximal and distal alignment of normal canine femurs: A morphometric analysis.

Science.gov (United States)

Kara, Mehmet Erkut; Sevil-Kilimci, Figen; Dilek, Ömer Gürkan; Onar, Vedat

2018-05-01

Many researchers are interested in femoral conformation because most orthopaedic problems of the long bones occur in the femur and its joints. The neck-shaft (NSA) and the anteversion (AVA) angles are good predictors for understanding the orientation of the proximal end of the femur. The varus (aLDFA) and procurvatum (CDFA) angles have also been used to understand the orientation of the distal end of the femur. The purposes of this study were to investigate the relationship between the proximal and distal angles of the femur and to compare the distal femoral angles in male and female dogs in order to investigate the sexual dimorphism. The measurements of normal CDFAs, which have not been previously reported, may also provide a database of canine distal femoral morphology. A total of 75 cleaned healthy femora from different breeds or mixed breed of dogs were used. The three-dimensional images were reconstructed from computed tomographic images. The AVA, NSA, aLDFA and CDFA were measured on the 3D images. The correlation coefficients were calculated among the measured angles. The distal femoral angles were also compared between male and female femora. The 95% confidence intervals of the AVA and the NSA were calculated to be 24.22°-29.50° and 144.97°-147.50°, respectively. The 95% confidence intervals of the aLDFA and the CDFA for all studied dogs were 92.62°-94.08° and 89.09°-91.94°, respectively. The NSA showed no correlation with either the aLDFA or CDFA. There was a weak inverse correlation between the AVA and CDFA and a weak positive correlation between the AVA and aLDFA. The differences in the aLDFA and CDFA measurements between male and female dog were not significant. In conclusion, femoral version, regardless of the plane, might have little influence on distal femoral morphology in normal dogs. Besides this, there is no evidence of a sexual dimorphism in the varus and procurvatum angles of the dog distal femur. The data from this study may be used in

The drive for muscularity in men: media influences and objectification theory.

Science.gov (United States)

Daniel, Samantha; Bridges, Sara K

2010-01-01

Presently, objectification theory has yielded mixed results when utilized to explain body image concerns in men. An online survey assessing internalization of media ideals, self-objectification, body surveillance, body shame, the drive for muscularity, and body mass index (BMI) was completed by 244 predominantly college-aged males. Path analyses were used to investigate relationships among these variables where it was hypothesized that objectification variables would mediate the relationship between internalization of media ideals and the drive for muscularity. Internalization of media ideals was the strongest predictor of the drive for muscularity, followed by BMI, though variables of objectification theory had no impact on the drive for muscularity contrary to hypotheses. The results suggest that objectification theory may not be applicable to men as it is currently measured. Copyright 2009 Elsevier Ltd. All rights reserved.

Tratamento da distrofia muscular progressiva com lactato de sódio Treatment of progressive muscular dystrophy with sodium lactate

Directory of Open Access Journals (Sweden)

José Antonio Levy

1969-12-01

Full Text Available Com base em trabalhos anteriores, 13 casos de distrofia muscular progressiva foram tratados com lactato de sódio 1/6 molar associado a ATP e complexo B. O exame da força muscular, realizado antes e após o tratamento — salvo em dois casos nos quais ocorreram melhoras muito discretas — não mostrou qualquer efeito favorável da medicação. Os autores sugerem a verificação de possíveis alterações enzimáticas provocadas pelo lactato de sódio, o que serviria para melhor avaliação do efeito terapêutico.Thirteen cases of progressive muscular dystrophy were treated with 1/6 M. sodium lactate plus ATP and B complex. Examinations of muscle strength, before and after the treatment, did not show any favourable effects, except in two of the cases which showed slight improvement. The authors suggest that possible enzimatic alterations caused by the sodium lactate be checked up on, since this checking could be employed in the evaluation of the therapeutic effects.

Utility of 64-row MDCT in assessment of neonates with congenital EA and distal TEF

Directory of Open Access Journals (Sweden)

Hosam El-Deen Galal Mohamed El-Malah

2015-12-01

Conclusion: Preoperative MDCT scan with MPVR, 3D TL-VR of 64-row MDCT which is a noninvasive technique could provide more accurate information about the assessment of the origin of the fistula, the distal esophageal pouches and inter-pouch distance in neonates with EA and distal TEF.

Distal displacement of the maxilla and the upper first molar.

Science.gov (United States)

Baumrind, S; Molthen, R; West, E E; Miller, D M

1979-06-01

Data from a sample of 198 Class II cases treated with various appliances which deliver distally directed forces to the maxilla were examined to determine the frequency of absolute distal displacement of the upper first molar and of the maxilla. Analysis revealed that such distal displacement is possible and that it is, in fact, a frequent finding following treatment. Long-range stability of distal displacement was not assessed.

Risk Factors for First Fractures Among Males With Duchenne or Becker Muscular Dystrophy.

Science.gov (United States)

James, Katherine A; Cunniff, Christopher; Apkon, Susan D; Mathews, Katherine; Lu, Zhenqiang; Holtzer, Caleb; Pandya, Shree; Ciafaloni, Emma; Miller, Lisa

2015-09-01

Fractures are a significant concern for individuals with Duchenne/Becker muscular dystrophy with 21% to 44% of males experiencing a fracture. Factors that increase or decrease the risk for fracture have been suggested in past research, although statistical risk has not been determined. In this retrospective cohort study, we used the Muscular Dystrophy Surveillance, Tracking and Research Network cohort, a large, population-based sample to identify risk factors associated with first fractures in patients with Duchenne or Becker muscular dystrophy. Our study cohort included males with Duchenne or Becker muscular dystrophy born between 1982 and 2006 who resided in Arizona, Colorado, Georgia, Iowa, and Western New York, retrospectively identified and followed through 2010. We utilized a multivariate Cox proportional hazard model to determine hazard ratios for relevant factors associated with first fracture risk including race/ethnicity, surveillance site, ambulation status, calcium/vitamin D use and duration, bisphosphonate use and duration, and corticosteroid use and duration. Of 747 cases, 249 had at least 1 fracture (33.3%). Full-time wheelchair use increased the risk of first fracture by 75% for every 3 months of use (hazard ratio=1.75, 95% confidence interval, 1.14, 2.68), but corticosteroid use, bisphosphonate use, and calcium/vitamin D use did not significantly affect risk in the final adjusted model. In this cohort, first fractures were common and full-time wheelchair use, but not corticosteroid use, was identified as a risk factor. The impact of prevention measures should be more thoroughly assessed. Fractures are a significant concern for individuals with dystrophinopathies, but the contribution of various risk factors has not been consistently demonstrated.

Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials.

Science.gov (United States)

Anthony, Karen; Cirak, Sebahattin; Torelli, Silvia; Tasca, Giorgio; Feng, Lucy; Arechavala-Gomeza, Virginia; Armaroli, Annarita; Guglieri, Michela; Straathof, Chiara S; Verschuuren, Jan J; Aartsma-Rus, Annemieke; Helderman-van den Enden, Paula; Bushby, Katherine; Straub, Volker; Sewry, Caroline; Ferlini, Alessandra; Ricci, Enzo; Morgan, Jennifer E; Muntoni, Francesco

2011-12-01

Duchenne muscular dystrophy is caused by mutations in the DMD gene that disrupt the open reading frame and prevent the full translation of its protein product, dystrophin. Restoration of the open reading frame and dystrophin production can be achieved by exon skipping using antisense oligonucleotides targeted to splicing elements. This approach aims to transform the Duchenne muscular dystrophy phenotype to that of the milder disorder, Becker muscular dystrophy, typically caused by in-frame dystrophin deletions that allow the production of an internally deleted but partially functional dystrophin. There is ongoing debate regarding the functional properties of the different internally deleted dystrophins produced by exon skipping for different mutations; more insight would be valuable to improve and better predict the outcome of exon skipping clinical trials. To this end, we have characterized the clinical phenotype of 17 patients with Becker muscular dystrophy harbouring in-frame deletions relevant to on-going or planned exon skipping clinical trials for Duchenne muscular dystrophy and correlated it to the levels of dystrophin, and dystrophin-associated protein expression. The cohort of 17 patients, selected exclusively on the basis of their genotype, included 4 asymptomatic, 12 mild and 1 severe patient. All patients had dystrophin levels of >40% of control and significantly higher dystrophin (P = 0.013), β-dystroglycan (P = 0.025) and neuronal nitric oxide synthase (P = 0.034) expression was observed in asymptomatic individuals versus symptomatic patients with Becker muscular dystrophy. Furthermore, grouping the patients by deletion, patients with Becker muscular dystrophy with deletions with an end-point of exon 51 (the skipping of which could rescue the largest group of Duchenne muscular dystrophy deletions) showed significantly higher dystrophin levels (P = 0.034) than those with deletions ending with exon 53. This is the first quantitative study on both

Prominent fatigue in spinal muscular atrophy and spinal and bulbar muscular atrophy: evidence of activity-dependent conduction block.

Science.gov (United States)

Noto, Yu-ichi; Misawa, Sonoko; Mori, Masahiro; Kawaguchi, Naoki; Kanai, Kazuaki; Shibuya, Kazumoto; Isose, Sagiri; Nasu, Saiko; Sekiguchi, Yukari; Beppu, Minako; Ohmori, Shigeki; Nakagawa, Masanori; Kuwabara, Satoshi

2013-09-01

To clarify whether patients with spinal muscular atrophy (SMA) or spinal and bulbar muscular atrophy (SBMA) suffer disabling muscle fatigue, and whether activity-dependent conduction block (ADCB) contributes to their fatigue. ADCB is usually caused by reduced safety factor for impulse transmission in demyelinating diseases, whereas markedly increased axonal branching associated with collateral sprouting may reduce the safety factor in chronic lower motor neuron disorders. We assessed the fatigue severity scale (FSS) in 22 patients with SMA/SBMA, and in 100 disease controls (multiple sclerosis, myasthenia gravis, chronic inflammatory demyelinating polyneuropathy (CIDP), and axonal neuropathy). We then performed stimulated-single fibre electromyography (s-SFEMG) in the extensor digitorum communis (EDC) muscle of 21 SMA/SBMA patients, 6 CIDP patients, and 10 normal subjects. The FSS score was the highest in SMA/SBMA patients [4.9 ± 1.1 (mean ± SD)], with 81% of them complaining of disabling fatigue, compared with normal controls (3.5 ± 1.0), whereas patients with multiple sclerosis (4.3 ± 1.6), myasthenia gravis (4.0 ± 1.6) or CIDP (4.3 ± 1.4) also showed higher FSS score. When 2000 stimuli were delivered at 20 Hz in s-SFEMG, conduction block of single motor axons developed in 46% of patients with SMA/SBMA, and 40% of CIDP patients, but in none of the normal controls. SMA/SBMA patients frequently suffer from disabling fatigue presumably caused by ADCB induced by voluntary activity. ADCB could be the mechanism for muscle fatigue in chronic lower motor neuron diseases. Copyright © 2013 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

Imaging appearance of entrapped periosteum within a distal femoral Salter-Harris II fracture

International Nuclear Information System (INIS)

Chen, Johnathan; Abel, Mark F.; Fox, Michael G.

2015-01-01

Salter Harris II fractures of the distal femur are associated with a high incidence of complications, especially premature physeal closure. Many risk factors for this high rate of premature physeal closure have been proposed. More recently, entrapment of periosteum within the physis has been suggested as an additional predisposing factor for premature physeal closure. The radiographic diagnosis of entrapped soft tissues, including periosteum, can be suggested in the setting of a Salter-Harris II fracture when the fracture does not reduce and physeal widening >3 mm remains. We report a patient who sustained a distal femoral Salter-Harris II fracture following a valgus injury. The patient had persistent distal medial physeal widening >5 mm following attempted reduction. A subsequent MRI revealed a torn periosteum entrapped within the distal femoral physis. Following removal of the periosteum, the patient developed a leg length discrepancy which required physiodesis of the contralateral distal femur. We present this case to raise awareness of the importance of having a high index of suspicion of periosteal entrapment in the setting of Salter-Harris II fractures since most consider entrapped periosteum an indication for surgery. (orig.)

X-rays computed tomographic scans of lower limb and trunk muscles in facioscapulohumeral muscular dystrophy

Energy Technology Data Exchange (ETDEWEB)

Horikawa, Hirosei; Mano, Yukio; Takayanagi, Tetsuya [Nara Medical Univ., Kashihara (Japan); Takahashi, Keiichi; Nishio, Hisahide

1992-10-01

X-rays computed tomographic (CT) scans of muscles of the lower limbs and the trunk in 14 patients with facioscapulohumeral muscular dystrophy (FSH) were studied. The CT scans showed that the affected muscles were decreased in density and size. The laterality of muscular involvement was sometimes observed. The muscular lesions in the lower limbs showed proximal distribution. In the thigh, the hamstrings were affected first, the adductor muscles second, and then the muscular involvement progressed to the quadriceps femoris muscle. In the lower leg, the gastrocnemius and soleus muscles were relatively spared as compared with the tibialis anterior muscle. In the lumbar girdle, the abdominal muscles were involved first, the gluteal muscles second, the back muscles third, and the psoas major muscle were relatively spared. The muscular weakness of this distribution exacerbated lumbar lordosis. The neck muscles were less affected than those of the lumbar girdle. The CT scans in FSH demonstrated the characteristic pattern of muscular involvement, which differed from the inherited muscular diseases such as Duchenne muscular dystrophy, myotonic dystrophy, and others. (author).

X-rays computed tomographic scans of lower limb and trunk muscles in facioscapulohumeral muscular dystrophy

International Nuclear Information System (INIS)

Horikawa, Hirosei; Mano, Yukio; Takayanagi, Tetsuya; Takahashi, Keiichi; Nishio, Hisahide.

1992-01-01

X-rays computed tomographic (CT) scans of muscles of the lower limbs and the trunk in 14 patients with facioscapulohumeral muscular dystrophy (FSH) were studied. The CT scans showed that the affected muscles were decreased in density and size. The laterality of muscular involvement was sometimes observed. The muscular lesions in the lower limbs showed proximal distribution. In the thigh, the hamstrings were affected first, the adductor muscles second, and then the muscular involvement progressed to the quadriceps femoris muscle. In the lower leg, the gastrocnemius and soleus muscles were relatively spared as compared with the tibialis anterior muscle. In the lumbar girdle, the abdominal muscles were involved first, the gluteal muscles second, the back muscles third, and the psoas major muscle were relatively spared. The muscular weakness of this distribution exacerbated lumbar lordosis. The neck muscles were less affected than those of the lumbar girdle. The CT scans in FSH demonstrated the characteristic pattern of muscular involvement, which differed from the inherited muscular diseases such as Duchenne muscular dystrophy, myotonic dystrophy, and others. (author)

The far and distal enhancers in the CYP3A4 gene co-ordinate the proximal promoter in responding similarly to the pregnane X receptor but differentially to hepatocyte nuclear factor-4alpha.

Science.gov (United States)

Liu, Fu-Jun; Song, Xiulong; Yang, Dongfang; Deng, Ruitang; Yan, Bingfang

2008-01-01

CYP3A4 (cytochrome P450 3A4) is involved in the metabolism of more than 50% of drugs and other xenobiotics. The expression of CYP3A4 is induced by many structurally dissimilar compounds. The PXR (pregnane X receptor) is recognized as a key regulator for the induction, and the PXR-directed transactivation of the CYP3A4 gene is achieved through a co-ordinated mechanism of the distal module with the proximal promoter. Recently, a far module was found to support constitutive expression of CYP3A4. The far module, like the distal module, is structurally clustered by a PXR response element (F-ER6) and elements recognized by HNF-4alpha (hepatocyte nuclear receptor-4alpha). We hypothesized that the far module supports PXR transactivation of the CYP3A4 gene. Consistent with the hypothesis, fusion of the far module to the proximal promoter of CYP3A4 markedly increased rifampicin-induced reporter activity. The increase was synergistically enhanced when both the far and distal modules were fused to the proximal promoter. The increase, however, was significantly reduced when the F-ER6 was disrupted. Chromatin immunoprecipitation detected the presence of PXR in the far module. Interestingly, HNF-4alpha increased the activity of the distal-proximal fused promoter, but decreased the activity of the far-proximal fused promoter. Given the fact that induction of CYP3A4 represents an important detoxification mechanism, the functional redundancy and synergistic interaction in supporting PXR transactivation suggest that the far and distal modules ensure the induction of CYP3A4 during chemical insults. The difference in responding to HNF-4alpha suggests that the magnitude of the induction is under control through various transcriptional networks.

A case of muscular sarcoidosis diagnosed by gallium-67 scintigraphy and magnetic resonance imaging

International Nuclear Information System (INIS)

Sohn, Hyung Sun; Kim, Euy Neyng

1999-01-01

Gallium-67 scintigraphy is helpful in the assessment of active extrapulmonary sarcoidosis. Muscular involvement of sarcoidosis is often asymptomatic or nonspecific, and laboratory examinations do not provide convincing evidence of muscular involvement. We report a case of muscular sarcoidosis, which was detected by gallium-67 scintigraphy. In a patient who was suffering from fever and arthalgia of knee joint, gallium-67 scintigraphy showed mediastinal and hilar involvement of sarcoidosis with unexpected extensive muscular uptake. Magnetic resonance imaging revealed the detailed depiction of intramuscular infiltration of sarcoid granuloma. Gallium-67 scintigraphy is useful in detecting inflammatory muscular involvement of sarcoidosis as well as other multiorgan involvement

Inherited myopathies and muscular dystrophies

NARCIS (Netherlands)

Cardamone, Michael; Darras, Basil T.; Ryan, Monique M.

The inherited myopathies and muscular dystrophies are a diverse group of muscle diseases presenting with common complaints and physical signs: weakness, motor delay, and respiratory and bulbar dysfunction. The myopathies are caused by genetic defects in the contractile apparatus of muscle, and

Genetics and emerging treatments for Duchenne and Becker muscular dystrophy.

Science.gov (United States)

Wein, Nicolas; Alfano, Lindsay; Flanigan, Kevin M

2015-06-01

Mutations in the DMD gene result in Duchenne or Becker muscular dystrophy due to absent or altered expression of the dystrophin protein. The more severe Duchenne muscular dystrophy typically presents around ages 2 to 5 with gait disturbance, and historically has led to the loss of ambulation by age 12. It is important for the practicing pediatrician, however, to be aware of other presenting signs, such as delayed motor or cognitive milestones, or elevated serum transaminases. Becker muscular dystrophy is milder, often presenting after age 5, with ambulation frequently preserved past 20 years and sometimes into late decades. Copyright © 2015 Elsevier Inc. All rights reserved.

Limb girdle muscular dystrophy due to mutations in POMT2

DEFF Research Database (Denmark)

Østergaard, Sofie Thurø; Johnson, Katherine; Stojkovic, Tanya

2018-01-01

BACKGROUND: Mutations in the gene coding for protein O-mannosyl-transferase 2 (POMT2) are known to cause severe congenital muscular dystrophy, and recently, mutations in POMT2 have also been linked to a milder limb-girdle muscular dystrophy (LGMD) phenotype, named LGMD type 2N (LGMD2N). Only four...

Primary muscular hydatid: preoperative diagnosis Throught computerized tomography and ultrasonography

International Nuclear Information System (INIS)

Macho Fernandez, J.M.; Marin Cardenas, M.A.; Mazas Artasona, L.; Lample Lacasa, C.; Otero Sierra, C.; Hernandez Navarrete, M.J.; Gomez-Pereda, R.

1995-01-01

Primary muscular hydatid disease, is extremely rare,- but not exceptional-, comparatively with other atypical localization. In this article the authors revised 474 patients with hydatid disease over a ten years period. Three cases of primary muscular localization were found. The ultrasonography and computed tomography facilitates the preoperative diagnosis. (Author) 40 refs

Major mental disorders, gender, and criminological circumstances of homicide.

Science.gov (United States)

Richard-Devantoy, Stéphane; Bouyer-Richard, Anne-Isabelle; Annweiler, Cédric; Gourevitch, Raphaël; Jollant, Fabrice; Olie, Jean-Pierre; Bourdel, Marie-Chantal; Lhuillier, Jean-Paul; Beauchet, Olivier

2016-04-01

To examine the criminological circumstances of homicide in a group of French murderers with and without major mental disorders (MMD) stratified by the perpetrator's gender. Sociodemographic, clinical, and criminological variables were collected from the psychiatric expert reports of 210 cases of homicide heard at the High Court of Angers, France. Murderers were categorized according to MMD diagnosis and gender. Among 210 murderers, 17.6% (n = 37) had a MMD (20% of the female perpetrators). Logistic regression models showed that being a murderer with a MMD was associated with younger age (adjusted Odds Ratio OR = 1.03, P = 0.034), high school education (OR = 2.48, P = 0.036), previous use of psychiatric services (OR = 4.75, P = 0.003), alcohol intoxication (OR = 2.71, P = 0.027), and delusional state (OR = 3.96, P = 0.002) at the time of the homicide. Multiple correspondence analyses showed that female murderers with a MMD were more prone to have depression and to use drowning as a method than those without a MMD, and that male murderers with a MMD more often had a high school education and delusional beliefs at the time of the homicide than those without a MMD. Specific profiles of criminological circumstances of homicide could help to explore the risk of homicide in female and male patients with a MMD. Copyright © 2016 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

Disparities in the diagnostic process of Duchenne and Becker muscular dystrophy.

Science.gov (United States)

Holtzer, Caleb; Meaney, F John; Andrews, Jennifer; Ciafaloni, Emma; Fox, Deborah J; James, Katherine A; Lu, Zhenqiang; Miller, Lisa; Pandya, Shree; Ouyang, Lijing; Cunniff, Christopher

2011-11-01

To determine whether sociodemographic factors are associated with delays at specific steps in the diagnostic process of Duchenne and Becker muscular dystrophy. We examined abstracted medical records for 540 males from population-based surveillance sites in Arizona, Colorado, Georgia, Iowa, and western New York. We used linear regressions to model the association of three sociodemographic characteristics with age at initial medical evaluation, first creatine kinase measurement, and earliest DNA analysis while controlling for changes in the diagnostic process over time. The analytical dataset included 375 males with information on family history of Duchenne and Becker muscular dystrophy, neighborhood poverty levels, and race/ethnicity. Black and Hispanic race/ethnicity predicted older ages at initial evaluation, creatine kinase measurement, and DNA testing (P Becker muscular dystrophy predicted younger ages at initial evaluation, creatine kinase measurement and DNA testing (P Becker muscular dystrophy are evident even after adjustment for family history of Duchenne and Becker muscular dystrophy and changes in the diagnostic process over time. Black and Hispanic children are initially evaluated at older ages than white children, and the gap widens at later steps in the diagnostic process.

FDG-PET imaging of lower extremity muscular activity during level walking

International Nuclear Information System (INIS)

Oi, Naoyuki; Iwaya, Tsutomu; Tobimatsu, Yoshiko; Fujimoto, Toshihiko; Itoh, Masatoshi; Yamaguchi, Keiichiro

2003-01-01

We analyzed muscular activity of the lower extremities during level walking using positron emission tomography (PET) with 18 F-fluorodeoxyglucose ( 18 F-FDG). We examined 17 healthy male subjects; 11 were assigned to a walking group and 6 to a resting group. After 18 F-FDG injection, the walking group subjects walked at a free speed for 15 min. A whole-body image was then obtained by a PET camera, and the standardized uptake ratio (SUR) was computed for each muscle. The SUR for each muscle of the walking group was compared with that for the corresponding muscles in the resting group. The level of muscular activity of all the muscles we examined were higher during level walking than when resting. The activity of the lower leg muscles was higher than that of the thigh muscles during level walking. The muscular activity of the soleus was highest among all the muscles examined. Among the gluteal muscles, the muscular activity of the gluteus minimus was higher than that of the gluteus maximus and gluteus medius. The concurrent validity of measuring muscular activity of the lower extremity during level walking by the PET method using 18 F-FDG was demonstrated. (author)

Immunohistochemical alterations of dystrophin in congenital muscular dystrophy Alterações imuno-hístoquímicas da distrofina na distrofia muscular congênita

Directory of Open Access Journals (Sweden)

Lineu Cesar Werneck

1995-09-01

Full Text Available The dystrophin distribution in the plasma muscle membrane using immunohystochemistry was studied in 22 children with congenital muscular dystrophy. The dystrophin was detected by immunofluorescence in muscle biopsy through a polyclonal antibody. All the cases had patchy interruptions of the fluorescence in the plasma membrane. A large patchy interruption of the sarcolemma was found in 17 cases, small interruption in 12, and a combination of large and small patchy discontinuity in 7. Small gaps around the fiber like a rosary were found in 15 cases. The frequency of these abnormalities ranged cases from: all fibers in 5 cases, frequent in 8, occasional in 5, and rare in 4. Five cases had total absence of immunofluorescence. These results suggest that the dystrophin expression is abnormal in this group of children and that this type of abnormalities can not be differentiated from early Becker muscular dystrophy nor childhood autosomal recessive muscular dystrophy through immunohystochemistry alone.Foi estudada a distribuição da distrofina na membrana plasmática das fibras musculares em 22 crianças com distrofia muscular congênita, através de técnicas de imuno-histoquímica. A distrofina foi identificada nas biópsias musculares processadas a fresco, por técnicas de imunofluorescência utilizando anticorpos policlonais. Todos os casos tinham interrupções da imunofluorescência na membrana plasmática. Em 17 elas eram grandes, em 12 eram pequenas e em 7 eram de ambos os tipos. Fibras com interrupções pequenas e constantes, como um rosário, foram vistas em 15 casos. Essas anormalidades estavam presentes em todas as fibras em 5 casos, eram frequentes em 8, ocasionais em 5 e raras em 4. Cinco casos mostraram fibras sem distrofina. Esses dados sugerem que a expressão da distrofina é anormal nesse grupo de crianças. Essas anormalidades podem também ser encontradas em casos precoces de distrofia muscular de Becker e distrofia autoss

A New Orthodontic Appliance with a Mini Screw for Upper Molar Distalization.

Science.gov (United States)

Ozkalayci, Nurhat; Yetmez, Mehmet

2016-01-01

The aim of this study is to present a new upper molar distalization appliance called Cise distalizer designed as intraoral device supported with orthodontic mini screw for upper permanent molar distalization. The new appliance consists of eight main components. In order to understand the optimum force level, the appliance under static loading is tested by using strain gage measurement techniques. Results show that one of the open coils produces approximately 300 gr distalization force. Cise distalizer can provide totally 600 gr distalization force. This range of force level is enough for distalization of upper first and second molar teeth.

Men, Muscles, and Eating Disorders: an Overview of Traditional and Muscularity-Oriented Disordered Eating.

Science.gov (United States)

Lavender, Jason M; Brown, Tiffany A; Murray, Stuart B

2017-06-01

There is growing recognition that eating disorder (ED) symptoms, particularly those of a muscularity-oriented nature, are more common in men than previously understood. The purpose of the current review is to describe contemporary directions and implications of research on traditional and muscularity-oriented ED symptoms among males. Evidence indicates that ED symptoms occur in a substantial minority of men. Importantly, recent research has focused on muscularity-oriented body image and disordered eating in males, demonstrating the prevalence, correlates, and consequences of maladaptive muscularity-oriented attitudes and behaviors. A growing number of assessments are available to measure these constructs in males, and preliminary treatment considerations have begun to be addressed in the literature. Research on male EDs and body image is increasingly focusing on muscularity-oriented manifestations. Continued empirical work will be critical to improve our understanding of the onset, maintenance, and treatment of muscularity-oriented disordered eating in males.

Dysphagia in facioscapulohumeral muscular dystrophy.

NARCIS (Netherlands)

Wohlgemuth, M.; Swart, B.J.M. de; Kalf, J.G.; Joosten, F.B.M.; Vliet, A.M. van der; Padberg, G.W.A.M.

2006-01-01

Dysphagia is not considered a symptom of facioscapulohumeral muscular dystrophy (FSHD). In this study, the authors found that dysphagia does occur in patients with advanced FSHD showing mild involvement of the jaw and lingual muscles. Dysphagia is seldom life threatening in these patients. The

Osteomyelitis Caused by Candida glabrata in the Distal Phalanx

Directory of Open Access Journals (Sweden)

Shunichi Toki

2014-01-01

Full Text Available Osteomyelitis caused by Candida glabrata is rare and its optimal treatment is unknown. Here we report a case of osteomyelitis caused by C. glabrata in the distal phalanx in a 54-year-old woman. Despite partial resection of the nail and administering a 1-month course of antibiotics for paronychia, the local swelling remained and an osteolytic lesion was found. C. glabrata osteomyelitis of the distal phalanx was later diagnosed after curettage. Thereafter, the patient was treated with antifungal agents for 3 months. The infection eventually resolved, and radiological healing of the osteolytic lesion was achieved. Antifungal susceptibility testing should be performed in the case of osteomyelitis caused by nonalbicans Candida species, due to their resistance to fluconazole.

Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy

NARCIS (Netherlands)

van der Kooi, A. J.; Bonne, G.; Eymard, B.; Duboc, D.; Talim, B.; van der Valk, M.; Reiss, P.; Richard, P.; Demay, L.; Merlini, L.; Schwartz, K.; Busch, H. F. M.; de Visser, M.

2002-01-01

Mutations in the lamin A/C gene are found in Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy with cardiac conduction disturbances, dilated cardiomyopathy with conduction system disease, and familial partial lipodystrophy. Cases with lamin A/C mutations presenting with lipodystrophy

Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts

Directory of Open Access Journals (Sweden)

Satoru Noguchi

2014-01-01

Full Text Available Ullrich congenital muscular dystrophy (UCMD is an inherited muscle disorder characterized clinically by muscle weakness, distal joint hyperlaxity, and proximal joint contractures. Sporadic and recessive mutations in the three collagen VI genes, COL6A1, COL6A2, and COL6A3, are reported to be causative. In the sporadic forms, a heterozygous point mutation causing glycine substitution in the triple helical domain has been identified in higher rate. In this study, we examined the efficacy of siRNAs, which target point mutation site, on specific knockdown toward transcripts from mutant allele and evaluated consequent cellular phenotype of UCMD fibroblasts. We evaluated the effect of siRNAs targeted to silence-specific COL6A1 alleles in UCMD fibroblasts, where simultaneous expression of both wild-type and mutant collagen VI resulted in defective collagen localization. Addition of mutant-specific siRNAs allowed normal extracellular localization of collagen VI surrounding fibroblasts, suggesting selective inhibition of mutant collagen VI. Targeting the single-nucleotide COL6A1 c.850G>A (p.G284R mutation responsible a sporadic autosomal dominant form of UCMD can potently and selectively block expression of mutant collagen VI. These results suggest that allele-specific knockdown of the mutant mRNA can potentially be considered as a therapeutic procedure in UCMD due to COL6A1 point mutations.

Quantification of muscle strength and motor ability in patients with Duchenne muscular dystrophy on steroid therapy Quantificação da força muscular e habilidades motoras em pacientes com distrofia muscular de Duchenne em corticoterapia

Directory of Open Access Journals (Sweden)

Samara Lamounier Santana Parreira

2007-06-01

Full Text Available OBJECTIVE: An assessment protocol was applied to quantify and describe muscular strength and motor abilities of 32 patients with Duchenne muscular dystrophy (DMD, aged between 5 and 12 years on steroid therapy. METHOD: Assessments were made monthly for the first six months and with intervals of two months thereafter until the 14-month end point. The tests employed included: the Medical Research Council (MRC scale; the Hammersmith motor ability score; maximum weight lift; timed rise from floor and nine-meter walk. RESULTS: The results showed that loss of muscular strength and motor abilities were slowed in comparison to that observed in the natural evolution of the disease according to the literature. CONCLUSION: We conclude that a swift and objective assessment may be performed using the MRC scale for lower limbs and trunk, the Hammersmith motor ability score, timed nine-meter walk and weight lifts.OBJETIVO: Um protocolo de avaliação foi aplicado com o objetivo de quantificar e descrever evolutivamente a força muscular e as habilidades motoras de 32 pacientes com distrofia muscular de Duchenne (DMD, com idades variando de 5 a 12 anos, em corticoterapia. MÉTODO: As avaliações foram aplicadas mensalmente durante os primeiros seis meses e bimensais até completar um período de 14 meses. Os testes empregados foram: escala da "Medical Research Council" (MRC; Hammersmith "motor ability score"; levantamento da carga máxima de peso; cronometragem do tempo para levantar-se do chão e percorrer nove metros. RESULTADOS: Os resultados demonstraram que a perda da força muscular e das habilidades motoras foi mais lenta do que a observada na evolução natural da doença, como descrito na literatura internacional. CONCLUSÃO: Concluímos que uma rápida e objetiva avaliação pode ser executada utilizando a escala MRC para membros inferiores e tronco, Hammersmith motor ability score, cronometragem do tempo para percorrer 9 metros.e o levantamento de

Pulmonary Endpoints in Duchenne Muscular Dystrophy. A Workshop Summary.

Science.gov (United States)

Finder, Jonathan; Mayer, Oscar Henry; Sheehan, Daniel; Sawnani, Hemant; Abresch, R Ted; Benditt, Joshua; Birnkrant, David J; Duong, Tina; Henricson, Erik; Kinnett, Kathi; McDonald, Craig M; Connolly, Anne M

2017-08-15

Development of novel therapeutics for treatment of Duchenne muscular dystrophy (DMD) has led to clinical trials that include pulmonary endpoints that allow assessment of respiratory muscle status, especially in nonambulatory subjects. Parent Project Muscular Dystrophy (PPMD) convened a workshop in Bethesda, Maryland, on April 14 and 15, 2016, to summarize published respiratory data in DMD and give guidance to clinical researchers assessing the effect of interventions on pulmonary outcomes in DMD.

A New Orthodontic Appliance with a Mini Screw for Upper Molar Distalization

Directory of Open Access Journals (Sweden)

Nurhat Ozkalayci

2016-01-01

Full Text Available The aim of this study is to present a new upper molar distalization appliance called Cise distalizer designed as intraoral device supported with orthodontic mini screw for upper permanent molar distalization. The new appliance consists of eight main components. In order to understand the optimum force level, the appliance under static loading is tested by using strain gage measurement techniques. Results show that one of the open coils produces approximately 300 gr distalization force. Cise distalizer can provide totally 600 gr distalization force. This range of force level is enough for distalization of upper first and second molar teeth.

Thinness and muscularity internalization: Associations with disordered eating and muscle dysmorphia in men.

Science.gov (United States)

Klimek, Patrycja; Murray, Stuart B; Brown, Tiffany; Gonzales Iv, Manuel; Blashill, Aaron J

2018-04-01

The tripartite influence model of body image identifies internalization of societal body ideals as a risk factor for developing body dissatisfaction, and subsequent disordered eating behavior. In men, internalization of two dimensions of body image ideals, thinness and muscularity, is associated with body dissatisfaction and eating concerns. However, it is unknown how thinness and muscularity internalization interact in predicting muscle dysmorphia and disordered eating in men. Data were collected online from 180 undergraduate men, with ages ranging from 18 to 33 years (19.6, SD = 2.6). Regression models were used to test the interactive effects of thinness and muscularity internalization on (a) muscle dysmorphia symptoms and (b) disordered eating. Subsequent simple slope analyses probed effects at the mean, and ±1 standard deviation of thinness internalization. Muscularity and thinness internalization were independently positively related to muscle dysmorphia symptoms and disordered eating. Additionally, a significant interaction revealed that muscularity internalization was increasingly related to muscle dysmorphia symptoms as thinness internalization decreased. Men who internalized the muscular ideal had higher levels of muscle dysmorphia when they did not highly internalize the thin ideal. However, greater internalization of both the muscularity and thin ideal independently may be most relevant in the development of disordered eating in men. Future research is needed to explore variability in experiences of muscle dysmorphia compared with disordered eating in males. © 2018 Wiley Periodicals, Inc.

Determinants of the epithelial-muscular axis on embryonic stem cell-derived gut-like structures.

Science.gov (United States)

Luo, Yi; Takaki, Miyako; Misawa, Hiromi; Matsuyoshi, Hiroko; Sasahira, Tomonori; Chihara, Yoshitomo; Fujii, Kiyomu; Ohmori, Hitoshi; Kuniyasu, Hiroki

2010-01-01

Dome-like structures with epithelial-muscular layers resembling the gut have been derived from mouse embryonic stem (ES) cells. These domes have been reported to show spontaneous contractions and are called ES gut. In the present study, we examined the epithelial-muscular axis of these domes by detecting differentiation markers. A normal epithelial-muscular axis was exhibited in the domes with spontaneous motility, whereas the domes without spontaneous motility showed either an inverted or obscure axis. To investigate the factors affecting the epithelial-muscular axis, we examined the expression of hedgehog signaling factors in the domes. Expression of hedgehog family factors was detected in the epithelial components of the domes with motility, whereas this expression was inverted or obscure in the domes without motility. Out of the 25 domes, 10 of the 10 motility (+) domes showed a normal epithelial-muscular axis, whereas 14 of the 15 motility (-) domes lacked a normal epithelial-muscular axis. This implies that activin A upregulated the expression of sonic hedgehog and intestinal alkaline phosphatase in the embryoid bodies. These findings suggest that the motility of the ES gut depends on the domes' epithelial-muscular axis. Copyright © 2010 S. Karger AG, Basel.

Distrofia muscular congênita estudo clinico de 17 pacientes

Directory of Open Access Journals (Sweden)

A. S. B. Oliveira

1991-09-01

Full Text Available Descrevemos 17 pacientes (12m, 5f com idades que variaram de 1 a 24 anos (mediana 6 anos com distrofia muscular congênita (DMC, que foram estudados do ponto de vista genético, clínico, laboratorial, eletrofisiológico e anátomo-patológico. A apresentação segundo a herança foi da forma esporádica (76,5% ou possivelmente autossômica recessiva (23,5%. A diminuição da movimentação fetal intra-uterina foi referida em 57% dos casos, hipotonia neonatal em 82% e retardo no desenvolvimento motor em 88,2%. Fraqueza muscular, diminuição dos reflexos profundos e contraturas articulares estavam presentes em todos os casos. A piora na função motora estava muito relacionada ao aumento ou aparecimento de novas retrações articulares. A CK nunca ultrapassou valores acima de 8 vezes o normal. O ENMG foi de padrão miopático em 73,3%, neuropático em 13,3% e normal em 13,3% dos casos. Aspectos tomográficos com hipodensidade da substância branca subcortical foram vistos em 8 casos. Ao tratamento impôs-se fisioterapia adequada e cirurgia corretiva das deformidades articulares. Novas contraturas desenvolveram-se mais tarde e estavam relacionadas freqüentemente a fisioterapia insuficiente.

Caffeine improves muscular performance in elite Brazilian Jiu-jitsu athletes.

Science.gov (United States)

Diaz-Lara, Francisco Javier; Del Coso, Juan; García, Jose Manuel; Portillo, Luis J; Areces, Francisco; Abián-Vicén, Javier

2016-11-01

Scientific information about the effects of caffeine intake on combat sport performance is scarce and controversial. The aim of this study was to investigate the effectiveness of caffeine to improve Brazilian Jiu-jitsu (BJJ)-specific muscular performance. Fourteen male and elite BJJ athletes (29.2 ± 3.3 years; 71.3 ± 9.1 kg) participated in a randomized double-blind, placebo-controlled and crossover experiment. In two different sessions, BJJ athletes ingested 3 mg kg(-1) of caffeine or a placebo. After 60 min, they performed a handgrip maximal force test, a countermovement jump, a maximal static lift test and bench-press tests consisting of one-repetition maximum, power-load, and repetitions to failure. In comparison to the placebo, the ingestion of the caffeine increased: hand grip force in both hands (50.9 ± 2.9 vs. 53.3 ± 3.1 kg; respectively p caffeine also increased the one-repetition maximum (90.5 ± 7.7 vs. 93.3 ± 7.5 kg; p = .02), maximal power obtained during the power-load test (750.5 ± 154.7 vs. 826.9 ± 163.7 W; p caffeine increased dynamic and isometric muscular force, power, and endurance strength in elite BJJ athletes. Thus, caffeine might be an effective ergogenic aid to improve physical performance in BJJ.

Predicting drive for muscularity behavioural engagement from body image attitudes and emotions.

Science.gov (United States)

Tod, David; Edwards, Christian

2013-01-01

We examined the potential moderating effects of appearance investment, body image disturbance, and situational body image dysphoria on the drive for muscularity attitude-behaviour relationship. Participants (339 British college men, M(AGE)=20.00 years, SD=2.59) completed drive for muscularity attitude and behaviour, appearance investment, body image disturbance, and situational body image dysphoria measures. Results indicated higher levels of appearance investment, body image disturbance, and situational body image dysphoria were associated with increases in the drive for muscularity attitude's relationship with physique-enhancing behavioural engagement. Results help extend recent research that has moved beyond identifying correlates to examining ways that groups of variables interact to predict drive for muscularity behavioural engagement and may contribute to theory development. Copyright © 2012 Elsevier Ltd. All rights reserved.

Prevention of pectus excavatum for children with spinal muscular atrophy type 1.

Science.gov (United States)

Bach, John R; Bianchi, Carlo

2003-10-01

To demonstrate the elimination of pectus excavatum and promotion of more normal lung growth and chest wall development by the use of high-span positive inspiratory pressure plus positive end-expiratory pressure (PIP+PEEP), patients with spinal muscular atrophy type 1 with paradoxical breathing were placed on high-span PIP+PEEP when sleeping from the point of diagnosis of spinal muscular atrophy. Although the appearance of pectus excavatum is ubiquitous in untreated infants with spinal muscular atrophy type 1, after institution of high-span PIP+PEEP, pectus resolves and lungs and chest walls grow more normally. High-span PIP+PEEP is indicated for all infants diagnosed with spinal muscular atrophy who demonstrate paradoxical breathing for the purpose of promoting more normal lung and chest development.

Some Dynamics of Personality Development in Boys Suffering from Muscular Dystrophy

Science.gov (United States)

Mearig, Judith S.

1973-01-01

Discussed are personality aspects of Duchenne or pseudohypertrophic muscular dystrophy, a progressive wasting of muscular tissue, which afflicts only boys, and usually has its noticeable onset before the age of 6 years; and described is the development of three male dystrophic siblings. (DB)

Deficiência muscular de carnitina: relato de 8 casos com estudo clínico, eletromiográfico, histoquímico e bioquímico muscular

Directory of Open Access Journals (Sweden)

Lineu Cesar Werneck

1985-09-01

Full Text Available São relatados os casos de 8 pacientes, sendo 7 do sexo masculino, cuja idade variou entre 5 dias e 64 anos. Sete pacientes apresentavam diminuição da força muscular e todos apresentavam, nas biópsias musculares, acúmulo de lipídios. Os sintomas iniciaram nos primeiros dias de vida em três pacientes, na infância em dois, na idade adulta em dois; um dos casos apresentava-se assinto-mático aos 64 anos de idade (heterozigoto?. Em graus variáveis os pacientes apresentavam dificuldades na deglutição, hipotonia, atrofia muscular, dificuldades na mastigação, parestesias em membros inferiores, hepatomegalia e esplenome-galia. Cinco casos tinham história familiar e um relatava recorrências dos sintomas. Todos apresentavam aumento dos enzimas séricos, principalmente da creatinoquinase. A eletromiografia foi compatível a envolvimento muscular primário em um caso, desenervação em dois e neuromiopático em dois, não tendo sido realizada em três casos. Na biópsia muscular, em todos os casos, além do acúmulo de lipídios, ocorriam: componente de desenervação em 4, miopa-tia crônica em 4, atrofia de fibras do tipo II em um. Em dois casos, as alterações histológicas eram sugestivas de atrofia espinhal infantil. Um dos casos, possivelmente pertencente à forma sistêmica de deficiência de carnitina, possuía importante envolvimento miocárdico, vindo a falecer. São discutidos aspectos clínicos, metabólicos e terapêuticos das deficiências musculares de carnitina.

[Atypical reaction to anesthesia in Duchenne/Becker muscular dystrophy].

Science.gov (United States)

Silva, Helga Cristina Almeida da; Hiray, Marcia; Vainzof, Mariz; Schmidt, Beny; Oliveira, Acary Souza Bulle; Amaral, José Luiz Gomes do

2017-05-31

Duchenne/Becker muscular dystrophy affects skeletal muscles and leads to progressive muscle weakness and risk of atypical anesthetic reactions following exposure to succinylcholine or halogenated agents. The aim of this report is to describe the investigation and diagnosis of a patient with Becker muscular dystrophy and review the care required in anesthesia. Male patient, 14 years old, referred for hyperCKemia (chronic increase of serum creatine kinase levels - CK), with CK values of 7,779-29,040IU.L -1 (normal 174IU.L -1 ). He presented with a discrete delay in motor milestones acquisition (sitting at 9 months, walking at 18 months). He had a history of liver transplantation. In the neurological examination, the patient showed difficulty in walking on one's heels, myopathic sign (hands supported on the thighs to stand), high arched palate, calf hypertrophy, winged scapulae, global muscle hypotonia and arreflexia. Spirometry showed mild restrictive respiratory insufficiency (forced vital capacity: 77% of predicted). The in vitro muscle contracture test in response to halothane and caffeine was normal. Muscular dystrophy analysis by Western blot showed reduced dystrophin (20% of normal) for both antibodies (C and N-terminal), allowing the diagnosis of Becker muscular dystrophy. On preanesthetic assessment, the history of delayed motor development, as well as clinical and/or laboratory signs of myopathy, should encourage neurological evaluation, aiming at diagnosing subclinical myopathies and planning the necessary care to prevent anesthetic complications. Duchenne/Becker muscular dystrophy, although it does not increase susceptibility to MH, may lead to atypical fatal reactions in anesthesia. Copyright © 2017 Sociedade Brasileira de Anestesiologia. Publicado por Elsevier Editora Ltda. All rights reserved.

The Effect of Fatigue in Proxmal and Distal Muscles of Lower Extremity on Postural Control

Directory of Open Access Journals (Sweden)

Mozhgan Moghadam

2003-07-01

Full Text Available Objective: Several studies have shown the effects of muscular fatigue on proprioception and neuromuscular control. However all available researches have studied just the effect of local fatigue in ankle joint muscles on postural control, and no study have found about the effect of fatigue in proximal muscles of the lower extremity on postural control. To compare changes in postural control parameters after isokinetic fatigue of proximal and distal muscles of lower extremity. Materials & Methods: Subjects were twenty healthy men (age: 22.6±2.4 years, height: 173.7± 3.6 cm, weight: 63.3±7.9kg. There were 4 test sessions, with a randomized order according to site and plane of fatigue. During each session one of these muscle groups was fatigued using a Biodex isokinetic dynamometer: ankle plantar / dorsi flexors, ankle evertor / inventors, hip flexor / extensors and hip abductor/adductors. The biodex stability system was used to perform dynamic balance test before and after muscle fatigue in each session. Overall, anterior / posterior, and medial/lateral stability indices were recorded. The higher the stability indices, the lower the balancing skill. Results: Analysis of pre-and post fatigue balance results of all sessions, demonstrated significant increase (P<0.05 in all stability indices. Repeated measures ANOVA performed on the rate of changes in stability indices during each session revealed that hip muscle fatigue caused much more increase in stability indices than ankle muscle fatigue (P<0.05. Conclusion: Isokinetic fatigue of both ankle and hip muscles significantly decreases postural control ability in healthy young men. In addition, our findings suggest that the hip joint musculature plays a more prominent role in postural control.

Muscular Dystrophies at Different Ages: Metabolic and Endocrine Alterations

Directory of Open Access Journals (Sweden)

Oriana del Rocío Cruz Guzmán

2012-01-01

Full Text Available Common metabolic and endocrine alterations exist across a wide range of muscular dystrophies. Skeletal muscle plays an important role in glucose metabolism and is a major participant in different signaling pathways. Therefore, its damage may lead to different metabolic disruptions. Two of the most important metabolic alterations in muscular dystrophies may be insulin resistance and obesity. However, only insulin resistance has been demonstrated in myotonic dystrophy. In addition, endocrine disturbances such as hypogonadism, low levels of testosterone, and growth hormone have been reported. This eventually will result in consequences such as growth failure and delayed puberty in the case of childhood dystrophies. Other consequences may be reduced male fertility, reduced spermatogenesis, and oligospermia, both in childhood as well as in adult muscular dystrophies. These facts all suggest that there is a need for better comprehension of metabolic and endocrine implications for muscular dystrophies with the purpose of developing improved clinical treatments and/or improvements in the quality of life of patients with dystrophy. Therefore, the aim of this paper is to describe the current knowledge about of metabolic and endocrine alterations in diverse types of dystrophinopathies, which will be divided into two groups: childhood and adult dystrophies which have different age of onset.

Effect of human-robot interaction on muscular synergies on healthy people and post-stroke chronic patients.

Science.gov (United States)

Scano, A; Chiavenna, A; Caimmi, M; Malosio, M; Tosatti, L M; Molteni, F

2017-07-01

Robot-assisted training is a widely used technique to promote motor re-learning on post-stroke patients that suffer from motor impairment. While it is commonly accepted that robot-based therapies are potentially helpful, strong insights about their efficacy are still lacking. The motor re-learning process may act on muscular synergies, which are groups of co-activating muscles that, being controlled as a synergic group, allow simplifying the problem of motor control. In fact, by coordinating a reduced amount of neural signals, complex motor patterns can be elicited. This paper aims at analyzing the effects of robot assistance during 3D-reaching movements in the framework of muscular synergies. 5 healthy people and 3 neurological patients performed free and robot-assisted reaching movements at 2 different speeds (slow and quasi-physiological). EMG recordings were used to extract muscular synergies. Results indicate that the interaction with the robot very slightly alters healthy people patterns but, on the contrary, it may promote the emergency of physiological-like synergies on neurological patients.

Traumatic Distal Ulnar Artery Thrombosis

Directory of Open Access Journals (Sweden)

Ahmet A. Karaarslan

2014-01-01

Full Text Available This paper is about a posttraumatic distal ulnar artery thrombosis case that has occurred after a single blunt trauma. The ulnar artery thrombosis because of chronic trauma is a frequent condition (hypothenar hammer syndrome but an ulnar artery thrombosis because of a single direct blunt trauma is rare. Our patient who has been affected by a single blunt trauma to his hand and developed ulnar artery thrombosis has been treated by resection of the thrombosed ulnar artery segment. This report shows that a single blunt trauma can cause distal ulnar artery thrombosis in the hand and it can be treated merely by thrombosed segment resection in suitable cases.

Clinical Outcome After DK Crush Versus Culotte Stenting of Distal Left Main Bifurcation Lesions: The 3-Year Follow-Up Results of the DKCRUSH-III Study.

Science.gov (United States)

Chen, Shao-Liang; Xu, Bo; Han, Ya-Ling; Sheiban, Imad; Zhang, Jun-Jie; Ye, Fei; Kwan, Tak W; Paiboon, Chitprapai; Zhou, Yu-Jie; Lv, Shu-Zheng; Dangas, George D; Xu, Ya-Wei; Wen, Shang-Yu; Hong, Lang; Zhang, Rui-Yan; Wang, Hai-Chang; Jiang, Tie-Ming; Wang, Yan; Sansoto, Teguh; Chen, Fang; Yuan, Zu-Yi; Li, Wei-Min; Leon, Martin B

2015-08-24

The present study aimed to investigate the difference in major adverse cardiac events (MACE) at 3 years after double-kissing (DK) crush versus culotte stenting for unprotected left main distal bifurcation lesions (LMDBLs). The multicenter and randomized DKCRUSH-III (Comparison of double kissing crush versus culotte stenting for unprotected distal left main bifurcation lesions: results from a multicenter, randomized, prospective study) showed that DK crush stenting was associated with fewer MACE at 1-year follow-up in patients with LMDBLs compared with culotte stenting. Here, we report the 3-year clinical outcome of the DKCRUSH-III study. A total of 419 patients with LMDBLs who were randomly assigned to either the DK crush or culotte group in the DKCRUSH-III study were followed for 3 year. The primary endpoint was the occurrence of a MACE at 3 years. Stent thrombosis (ST) was the safety endpoint. Patients were classified by simple and complex LMDBLs according to the DEFINITION (Definition and Impact of Complex Bifurcation Lesions on Clinical Outcomes After Percutaneous Coronary Intervention Using Drug-Eluting Stents) study criteria. At 3 years, MACE occurred in 49 patients the culotte group and in 17 patients in the DK crush group (cumulative event rates of 23.7% and 8.2%, respectively; p DK crush group (p = 0.007). Complex LMDBLs were associated with a higher rate of MACE (35.3%) at 3 years compared with a rate of 8.1% in patients with simple LMDBLs (p DK] Crush Versus Culotte Stenting for the Treatment of Unprotected Distal Left Main Bifurcation Lesions: DKCRUSH-III, a Multicenter Randomized Study Comparing Double-Stent Techniques; ChiCTR-TRC-11001877). Copyright © 2015 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

[Sciatic nerve block "out-of-plane" distal to the bifurcation: effective and safe].

Science.gov (United States)

Geiser, T; Apel, J; Vicent, O; Büttner, J

2017-03-01

Ultrasound guided distal sciatic nerve block (DSB) at bifurcation level shows fast onset and provides excellent success rates. However, its safe performance might be difficult for the unexperienced physician. Just slightly distal to the bifurcation, the tibial nerve (TN) and common fibular nerve (CFN) can be shown clearly separated from each other. Therefore, we investigated if a block done here would provide similar quality results compared to the DSB proximally to the division, with a potentially lower risk of nerve damage. In this randomized, prospective trial, 56 patients per group received either a DSB distal to the bifurcation "out-of-plane" (dist.) or proximally "in-plane" (prox.) with 30 ml of Mepivacaine 1% each. Success was tested by a blinded examiner after 15 and 30 min respectively (sensory and motor block of TN and CFN: 0 = none, 2 = complete, change of skin temperature). Videos of the blocks were inspected by an independent expert retrospectively with regard to the spread of the local anesthetic (LA) and accidental intraneural injection. Cumulative single nerve measurements and temperature changes revealed significant shorter onset and better efficacy (dist/prox: 15 min: 3.13 ± 1.86/1.82 ± 1.62; 30 min: 5.73 ± 1.92/3.21 ± 1.88; T 15 min : 30.3 ± 3.48/28.0 ± 3.67, T 30 min . 33.0 ± 2.46/30.6 ± 3.86; MV/SD; ANOVA; p safe application of the LA, so an effective block can be done with just one injection. DSB slightly distal to the bifurcation, in an out-of-plane technique between the TN and CFN, can be done fast, effectively and safe.

X-ray diagnostic sign for the differentiation of neurogenic and primary muscular diseases

International Nuclear Information System (INIS)

Palvoelgyi, R.; Gallai, M.

1981-01-01

The authors give an account of X-ray examinations of the limb musculature of 70 patients suffering from neurogenic muscular diseases, 42 suffering from primary muscular diseases and 45 suffering from senile degeneration of the muscles. Different degree of damage to different parts of the same muscle could only been observed in one case of neurogenic atrophy (in the postpoliomyelitic states) and in two cases of senile degeneration, while it was found in 11 cases (20%) for the other muscular diseases. In the latter cases the more severe muscle damage, which could be demonstrated radiographically, was always found in the part of the muscle adjacent to a tendon. On the above reasons the authors consider that radiographically demonstrable partial or uneven damage to any particular muscle can be used as a new diagnostical information in distinguishing muscular diseases from neurogenic muscular atrophy. (orig.) [de

Nodular type of muscular sarcoidosis : a case report

International Nuclear Information System (INIS)

Chae, Soo Hyun; Kim, Hong Soo; Park, Sook Hee; Kim, Sung Me

1999-01-01

Muscular involvement of sarcoidosis is rare and occurs in two forms:nodular and myopathic. In the nodular variety, lesions are long and extend along muscle fibers. Axial MR imaging reveals a star-shaped central structure of decreased signal intensity. Sagittal and coronal MR images show three stripes:an inner stripe of decreased signal intensity and outer stripes of increased signal intensity. Longitudinal sonography shows an echogenic inner stripe and hypoechoic outer stripes. We report a case of nodular- type muscular sarcoidosis in a 53-year-old man, describing the findings of MRI and ultrasonography

Muscular forearm activation in hand-grip tasks with superimposition of mechanical vibrations.

Science.gov (United States)

Fattorini, L; Tirabasso, A; Lunghi, A; Di Giovanni, R; Sacco, F; Marchetti, E

2016-02-01

The purpose of this paper is to evaluate the muscular activation of the forearm, with or without vibration stimuli at different frequencies while performing a grip tasks of 45s at various level of exerted force. In 16 individuals, 9 females and 7 males, the surface electromyogram (EMG) of extensor carpi radialis longus and the flexor carpi ulnari muscles were assessed. At a short latency from onset EMG, RMS and the level of MU synchronization were assessed to evaluate the muscular adaptations. Whilst a trend of decay of EMG Median frequency (MDFd) was employed as an index of muscular fatigue. Muscular tasks consists of the grip of an instrumented handle at a force level of 20%, 30%, 40%, 60% of the maximum voluntary force. Vibration was supplied by a shaker to the hand in mono-frequential waves at 20, 30, 33 and 40Hz. In relation to EMG, RMS and MU synchronization, the muscular activation does not seem to change with the superimposition of the mechanical vibrations, on the contrary a lower MDFd was observed at 33Hz than in absence of vibration. This suggests an early muscular fatigue induced by vibration due to the fact that 33Hz is a resonance frequency for the hand-arm system. Copyright © 2015 Elsevier Ltd. All rights reserved.

Serum Osteopontin as a Novel Biomarker for Muscle Regeneration in Duchenne Muscular Dystrophy.

Science.gov (United States)

Kuraoka, Mutsuki; Kimura, En; Nagata, Tetsuya; Okada, Takashi; Aoki, Yoshitsugu; Tachimori, Hisateru; Yonemoto, Naohiro; Imamura, Michihiro; Takeda, Shin'ichi

2016-05-01

Duchenne muscular dystrophy is a lethal X-linked muscle disorder. We have already reported that osteopontin (OPN), an inflammatory cytokine and myogenic factor, is expressed in the early dystrophic phase in canine X-linked muscular dystrophy in Japan, a dystrophic dog model. To further explore the possibility of OPN as a new biomarker for disease activity in Duchenne muscular dystrophy, we monitored serum OPN levels in dystrophic and wild-type dogs at different ages and compared the levels to other serum markers, such as serum creatine kinase, matrix metalloproteinase-9, and tissue inhibitor of metalloproteinase-1. Serum OPN levels in the dystrophic dogs were significantly elevated compared with those in wild-type dogs before and 1 hour after a cesarean section birth and at the age of 3 months. The serum OPN level was significantly correlated with the phenotypic severity of dystrophic dogs at the period corresponding to the onset of muscle weakness, whereas other serum markers including creatine kinase were not. Immunohistologically, OPN was up-regulated in infiltrating macrophages and developmental myosin heavy chain-positive regenerating muscle fibers in the dystrophic dogs, whereas serum OPN was highly elevated. OPN expression was also observed during the synergic muscle regeneration process induced by cardiotoxin injection. In conclusion, OPN is a promising biomarker for muscle regeneration in dystrophic dogs and can be applicable to boys with Duchenne muscular dystrophy. Copyright © 2016 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.

Distinct subclassification of DRG neurons innervating the distal colon and glans penis/distal urethra based on the electrophysiological current signature.

Science.gov (United States)

Rau, Kristofer K; Petruska, Jeffrey C; Cooper, Brian Y; Johnson, Richard D

2014-09-15

Spinal sensory neurons innervating visceral and mucocutaneous tissues have unique microanatomic distribution, peripheral modality, and physiological, pharmacological, and biophysical characteristics compared with those neurons that innervate muscle and cutaneous tissues. In previous patch-clamp electrophysiological studies, we have demonstrated that small- and medium-diameter dorsal root ganglion (DRG) neurons can be subclassified on the basis of their patterns of voltage-activated currents (VAC). These VAC-based subclasses were highly consistent in their action potential characteristics, responses to algesic compounds, immunocytochemical expression patterns, and responses to thermal stimuli. For this study, we examined the VAC of neurons retrogradely traced from the distal colon and the glans penis/distal urethra in the adult male rat. The afferent population from the distal colon contained at least two previously characterized cell types observed in somatic tissues (types 5 and 8), as well as four novel cell types (types 15, 16, 17, and 18). In the glans penis/distal urethra, two previously described cell types (types 6 and 8) and three novel cell types (types 7, 14, and 15) were identified. Other characteristics, including action potential profiles, responses to algesic compounds (acetylcholine, capsaicin, ATP, and pH 5.0 solution), and neurochemistry (expression of substance P, CGRP, neurofilament, TRPV1, TRPV2, and isolectin B4 binding) were consistent for each VAC-defined subgroup. With identification of distinct DRG cell types that innervate the distal colon and glans penis/distal urethra, future in vitro studies related to the gastrointestinal and urogenital sensory function in normal as well as abnormal/pathological conditions may be benefitted. Copyright © 2014 the American Physiological Society.

A preliminary study of muscular artifact cancellation in single-channel EEG.

Science.gov (United States)

Chen, Xun; Liu, Aiping; Peng, Hu; Ward, Rabab K

2014-10-01

Electroencephalogram (EEG) recordings are often contaminated with muscular artifacts that strongly obscure the EEG signals and complicates their analysis. For the conventional case, where the EEG recordings are obtained simultaneously over many EEG channels, there exists a considerable range of methods for removing muscular artifacts. In recent years, there has been an increasing trend to use EEG information in ambulatory healthcare and related physiological signal monitoring systems. For practical reasons, a single EEG channel system must be used in these situations. Unfortunately, there exist few studies for muscular artifact cancellation in single-channel EEG recordings. To address this issue, in this preliminary study, we propose a simple, yet effective, method to achieve the muscular artifact cancellation for the single-channel EEG case. This method is a combination of the ensemble empirical mode decomposition (EEMD) and the joint blind source separation (JBSS) techniques. We also conduct a study that compares and investigates all possible single-channel solutions and demonstrate the performance of these methods using numerical simulations and real-life applications. The proposed method is shown to significantly outperform all other methods. It can successfully remove muscular artifacts without altering the underlying EEG activity. It is thus a promising tool for use in ambulatory healthcare systems.

Distrofia muscular progressiva: alguns aspectos do diagnõstico diferencial

Directory of Open Access Journals (Sweden)

Sylvio Saraiva

1960-09-01

Full Text Available The authors call attention to some clinical entities which are less known and more difficult to recognize and with which differential diagnosis of progressive muscular dystrophy should be made (infantile spinal muscular atrophy, amyotonia congenita, congenital acute anterior poliomyelitis, anthro-griposis multiplex, von Gierke's disease, central core disease, chronical polymyositis and dermatomyositis, thyrotoxic myopathy and menopausal dys- trophy. The importance of muscle biopsy in the differential diagnosis is emphasized.

Nonunions of the distal tibia treated by reamed intramedullary nailing

NARCIS (Netherlands)

Richmond, Jeffrey; Colleran, Kevin; Borens, Olivier; Kloen, Peter; Helfet, David L.

2004-01-01

The purpose of this study is to determine the efficacy of reamed intramedullary nailing in the treatment of nonunions of the distal one-fourth of the tibia. Nonunions of the distal tibia are particularly difficult to treat given the short distal segment, the proximity to the ankle joint, and the

Detecting the transport of materials with axoplasm along the axon at the early stage after phrenic nerve neurotization via SPECT on a rabbit model

International Nuclear Information System (INIS)

Xu Wendong; Xu Jianguang; Gu Yudong; Jin Shaojin; Lin Xiangtong

2003-01-01

Objective: To study the feasibility of estimating the regenerative quality of transferred phrenic nerve by SPECT. Methods: Two tracers, 131 I-tyrosine and 99 Tc m -methylene diphosphonic acid (MDP) were selected. SPECT compounded with high-energy collimation implement (for 131 I) and low-energy collimation implement (for 99 Tc m ) was used. A rabbit model was set up. 131 I-tyrosine was injected into the normal sciatic nerve and transferred phrenic nerve by micro-syringe. The SPECT scanning was carried out at different intervals. The tracing image of 131 I was used for detecting the material migration along the axon and bone image of 99 Tc m -MDP was used for the bone orientation, these two images were interinfiltrated then. Results: The radioactivity of 131 I-tyrosine could be detected by SPECT, the transportation speed was about 30 mm/d in rabbit's normal sciatic nerve. For phrenic nerve transfer group, the 131 I-tyrosine was transported distally to the anastomotic site along with axoplasm in good regeneration group one month after anastomosis, the transportation speed was 40 mm/d. In scar group, the 131 I-tyrosine was accumulated approximately at the anastomotic site and could not be transported distally. Conclusions: The image of 131 I-tyrosine transported with nerve axoplasm could be displayed by SPECT in vivo. The method could be used to detect the circulation of regenerated axoplasm passing through the anastomotic site at the early stage after nerve transferring operation

Distrofia muscular congênita e deficiência de merosina Congenital muscular dystrophy and merosin deficiency

Directory of Open Access Journals (Sweden)

Lineu Cesar Werneck

1997-01-01

Full Text Available Uma proporção variável de pacientes com distrofia muscular congênita (DMC da forma clássica ou ocidental apresenta deficiência da cadeia α2 da merosina, uma proteína da matriz extracelular. Foi realizado estudo das características clínicas, laboratoriais e histopatológicas de 18 pacientes com DMC, relacionadas com o padrão de merosina encontrado na biópsia muscular. Estudo imuno-histoquímico demonstrou que 11 pacientes eram merosina-deficiente (MD e sete pacientes eram merosina-positiva (MP. Nenhum dos nove pacientes MD com idade suficiente para serem avaliados alcançaram a capacidade de deambulação, enquanto quatro dos sete pacientes MP atingiram deambulação sem auxílio. Os níveis de creatinoquinase estavam mais aumentados nos pacientes MD, mas a diferença entre os dois grupos não foi estatisticamente significativa. Estudo da condução nervosa motora foi realizado em 12 pacientes. Todos os quatro pacientes MP apresentaram exames normais, enquanto dois de oito pacientes MD apresentaram diminuição da velocidade de condução nervosa motora. Entre 69 parâmetros de biópsia muscular avaliados, não foi encontrada diferença estatisticamente significativa entre os grupos MP e MD. Esses resultados sugerem que a diferenciação entre os casos MP e MD serve para fins de prognóstico, pois os pacientes MP chegam a deambular. Além disso, este estudo indica que não existe relação entre a ausência de merosina e as alterações histológicas encontradas na biópsia muscular.Merosin α2 chain, an extracellular matrix protein, is deficient in a proportion of patients with classical congenital muscular dystrophy (CMD. A study of clinical, laboratory and histopathological features of 18 patients with CMD was performed in relation to the merosin expression in muscle biopsy. Immunohistochemistry study showed that merosin was deficient in 11 patients and present in 7. None of the 9 merosin-deficient patient: evaluated achieved

Bilateral en-masse distalization of maxillary posterior teeth with skeletal anchorage: a case report

Directory of Open Access Journals (Sweden)

Saeed Noorollahian

Full Text Available ABSTRACT Objective: The aim of this study was to introduce a new method for bilateral distal movement of the entire maxillary posterior segment. Case report: A 17-year-old girl with Class I skeletal malocclusion (end-to-end molar relationships, deviated midline and space deficiency for left maxillary canine was referred for orthodontic treatment. She did not accept maxillary first premolars extraction. A modified Hyrax appliance (Dentaurum Ispringen, Germany was used for bilateral distalization of maxillary posterior teeth simultaneously. Expansion vector was set anteroposteriorly. Posterior legs of Hyrax were welded to first maxillary molar bands. All posterior teeth on each side consolidated with a segment of 0.017 × 0.025-in stainless steel wire from the buccal side. Anterior legs of Hyrax were bent into eyelet form and attached to the anterior palate with two mini-screws (2 × 10 mm (Jeil Medical Corporation Seoul, South Korea. Hyrax opening rate was 0.8 mm per month. Lateral cephalometric radiographs were used to evaluate the extent of distal movement. 3.5-mm distalization of posterior maxillary teeth was achieved in five months. Results: A nearly bodily distal movement without anchorage loss was obtained. Conclusion: The mini-screw-supported modified Hyrax appliance was found to be helpful for achieving en-masse distal movement of maxillary posterior teeth.

Sex differences in muscular load among house painters performing identical work tasks

DEFF Research Database (Denmark)

Meyland, Jacob; Heilskov-Hansen, Thomas; Alkjær, Tine

2014-01-01

PURPOSE: The present study aimed to estimate possible differences in upper body muscular load between male and female house painters performing identical work tasks. Sex-related differences in muscular load may help explain why women, in general, have more musculoskeletal complaints than men....... METHODS: In a laboratory setting, 16 male and 16 female house painters performed nine standardised work tasks common to house painters. Unilateral electromyography (EMG) recordings were obtained from the supraspinatus muscle by intramuscular electrodes and from the trapezius, extensor and flexor carpi...... radialis muscles by surface electrodes. Relative muscular loads in %EMGmax as well as exerted force in Newton, based on ramp calibrations, were assessed. Sex differences were tested using a mixed model approach. RESULTS: Women worked at about 50% higher relative muscular loads than men in the supraspinatus...

Single absorbable polydioxanone pin fixation for distal chevron bunion osteotomies.

Science.gov (United States)

Deorio, J K; Ware, A W

2001-10-01

The distal chevron osteotomy is a well-established technique for correction of symptomatic mild to moderate metatarsus primus varus with hallux valgus deformity. Fixation of the osteotomy ranges from none to bone pegs, Kirschner wires, screws, or absorbable pins. We evaluated one surgeon's (J.K.D.) results of distal chevron osteotomy fixation with a single, nonpredrilled, 1.3-mm poly-p-dioxanone pin and analyzed any differences in patients with unilateral or bilateral symptomatic metatarsus primus varus with hallux valgus deformities. All osteotomies healed without evidence of infection, osteolysis, nonunion, or necrosis. Equal correction was achieved in unilateral and bilateral procedures. The technique is quick and easy, and adequate fixation is achieved.

Dystrophin in frameshift deletion patients with Becker Muscular Dystrophy

Energy Technology Data Exchange (ETDEWEB)

Gangopadhyay, S.B.; Ray, P.N.; Worton, R.G.; Sherratt, T.G.; Heckmatt, J.Z.; Dubowitz, V.; Strong, P.N.; Miller, G. (Penn State College of Medicine, Hershey, PA (United States)); Shokeir, M. (Univ. Hospital, Saskatchewan (Canada))

1992-09-01

In a previous study the authors identified 14 cases with Duchenne muscular dystrophy (DMD) or its milder variant, Becker muscular dystrophy (BMD), with a deletion of exons 3-7, a deletion that would be expected to shift the translational reading frame of the mRNA and give a severe phenotype. They have examined dystrophin and its mRNA from muscle biopsies of seven cases with either mild or intermediate phenotypes. In all cases they detected slightly lower-molecular-weight dystrophin in 12%-15% abundance relative to the normal. By sequencing amplified mRNA they have found that exon 2 is spliced to exon 8, a splice that produces a frameshifted mRNA, and have found no evidence for alternate splicing that might be involved in restoration of dystrophin mRNA reading frame in the patients with a mild phenotype. Other transcriptional and posttranscriptional mechanisms such as cryptic promoter, ribosomal frameshifting, and reinitiation are suggested that might play some role in restoring the reading frame. 34 refs., 5 figs. 1 tab.

Expression of Pannexin 1 and Pannexin 3 during skeletal muscle development, regeneration, and Duchenne muscular dystrophy.

Science.gov (United States)

Pham, Tammy L; St-Pierre, Marie-Eve; Ravel-Chapuis, Aymeric; Parks, Tara E C; Langlois, Stéphanie; Penuela, Silvia; Jasmin, Bernard J; Cowan, Kyle N

2018-05-10

Pannexin 1 (Panx1) and Pannexin 3 (Panx3) are single membrane channels recently implicated in myogenic commitment, as well as myoblast proliferation and differentiation in vitro. However, their expression patterns during skeletal muscle development and regeneration had yet to be investigated. Here, we show that Panx1 levels increase during skeletal muscle development becoming highly expressed together with Panx3 in adult skeletal muscle. In adult mice, Panx1 and Panx3 were differentially expressed in fast- and slow-twitch muscles. We also report that Panx1/PANX1 and Panx3/PANX3 are co-expressed in mouse and human satellite cells, which play crucial roles in skeletal muscle regeneration. Interestingly, Panx1 and Panx3 levels were modulated in muscle degeneration/regeneration, similar to the pattern seen during skeletal muscle development. As Duchenne muscular dystrophy is characterized by skeletal muscle degeneration and impaired regeneration, we next used mild and severe mouse models of this disease and found a significant dysregulation of Panx1 and Panx3 levels in dystrophic skeletal muscles. Together, our results are the first demonstration that Panx1 and Panx3 are differentially expressed amongst skeletal muscle types with their levels being highly modulated during skeletal muscle development, regeneration, and dystrophy. These findings suggest that Panx1 and Panx3 channels may play important and distinct roles in healthy and diseased skeletal muscles. © 2018 Wiley Periodicals, Inc.

External jig in the placement of distal interlocking screws | Ikem ...

African Journals Online (AJOL)

Retrograde (52.2%) was the commonest surgical approach used for femur. The main indication for SIGN interlocking surgery was recent fracture 77.8%. Open reduction 97.8% was the commonest method of reduction used. The mean±SD bone union time was 3.58±0.56 months and range 3-5 months. Distal screw insertion ...

Cardio-Muscular Conditioner

Science.gov (United States)

1993-01-01

In the mid-sixties, Gary Graham, a Boeing designer, developed a cardiovascular conditioner for a planned Air Force orbiting laboratory. After the project was cancelled, Graham participated in space station conditioning studies for the Skylab program. Twenty years later, he used this expertise to develop the Shuttle 2000-1, a physical therapy and athletic development conditioner, available through Contemporary Designs. The machine is used by football teams, sports clinics and medical rehabilitation centers. Cardiovascular fitness and muscular strength development are promoted through both kinetic and plyometric exercises.

Trends with corticosteroid use in males with Duchenne muscular dystrophy born 1982-2001.

Science.gov (United States)

Fox, Deborah J; Kumar, Anil; West, Nancy A; DiRienzo, A Gregory; James, Katherine A; Oleszek, Joyce

2015-01-01

This study examines trends in corticosteroid use for males with Duchenne muscular dystrophy by birth year, race/ethnicity, and knowledge of Duchenne muscular dystrophy family history. Firstborn males (n = 521) selected from a population-based surveillance system of Duchenne muscular dystrophy were analyzed using Kaplan Meier and regression methods. Comparing males born 1982 to 1986 with males born 1997 to 2001, steroid use increased from 54% to 72% and mean age at steroid initiation decreased from 8.2 to 7.1 years. Hispanics and non-Hispanic Black males used steroids less frequently and delayed initiation compared to white males. Compared to males without a Duchenne muscular dystrophy family history, males with known family history were half as likely to use steroids. Duration of steroid use increased over time and age at initiation decreased. Racial/ethnic disparities exist for steroid use and should be addressed to improve outcome and quality of life for boys with Duchenne muscular dystrophy. © The Author(s) 2014.

Fukuyama type congenital muscular dystrophy with unusual features

International Nuclear Information System (INIS)

Mori, Hideo; Oguni, Hirokazu; Osawa, Makiko; Suzuki, Haruko; Fukuyama, Yukio

1980-01-01

The Fukuyama type congenital muscular dystrophy (F-CMD) has been generally recognized as a well delineated subgroup of progressive muscular dystrophy (PMD) with uniform clinical, pathological, and genetic features. However, there are still debate to be solved as to the etiology of the condition, because several neuropathological findings found in F-CMD brain allowed some investigators to hypothesize the intrauterine infection to be a primary causation. The authors reported here two families with two affected siblings in each. In the pedigree A, consanguineous parents produced two sisters, Case 1 (3-year-old) and Case 2 (14-month-old). Two patients in the pedigree B, the products of non-consanguineous parents, Case 3 (4-month-old male) and his elder sister already decreased, were affected with F-CMD and infantile spasms. In all cases, generalized weakness and hypotonia had been remarkable since their early infancy, and muscle atrophy, myopathic facies multiple joint contractures and mental dullness became evident gradually. The above-mentioned clinical features as well as laboratory findings including elevated serum CPK and myogenic EMG were compatible with those of typical F-CMD. However, they were characterized by the following three unusual features. 1. Muscle biopsy: In addition to an overwhelming myogenic change, there was a distinct inflammatory cell infiltration in all cases, and scattered small groups of atrophic fibers were present in Case 2. 2. Brain CT scanning: A symmetrical and extensive low density area was observed in the cerebral white matter in all cases. 3. A favorable response to prednisolone therapy was noted in all cases. (author)

Influência do processo de familiarização para avaliação da força muscular em testes de 1-RM Influencia del proceso de familiarizacion para evaluación de la fuerza muscular en tests de 1-RM Influence of familiarization process on muscular strength assessment in 1-RM tests

Directory of Open Access Journals (Sweden)

Raphael Mendes Ritti Dias

2005-02-01

Full Text Available Embora testes de uma repetição máxima (1-RM sejam freqüentemente utilizados para a avaliação da força muscular, acredita-se que os resultados obtidos possam ser afetados pela falta de familiarização prévia, até mesmo em sujeitos com experiência em exercícios com pesos. Assim, o objetivo deste estudo foi investigar o impacto do processo de familiarização para avaliação da força muscular em testes de 1-RM. Para tanto, 21 homens (24,5 ± 3,8 anos, aparentemente saudáveis, com experiência prévia de pelo menos seis meses em treinamento com pesos, foram submetidos a testes repetitivos de 1-RM nos exercícios supino em banco horizontal, agachamento e rosca direta de bíceps. Os testes foram executados em quatro sessões, intervaladas a cada 48-72 horas. Um número máximo de três tentativas, com intervalo de três a cinco minutos para recuperação, foi utilizado em cada exercício, nas quatro sessões de testagem. ANOVA para medidas repetidas, seguida pelo teste post hoc de Tukey, quando p 0,05, bem como entre a terceira e a quarta sessão no supino em banco horizontal e no agachamento (p > 0,05. Os resultados indicam que a falta de familiarização prévia com testes de 1-RM pode comprometer a avaliação da força muscular. Portanto, sugere-se, para avaliação mais acurada da força muscular mediante testes de 1-RM, a execução de duas a três sessões de familiarização em homens adultos com experiência em exercícios com pesos.Embora la utilización de tests de una repetición máxima (1-RM es frecuente para la evaluación de la fuerza muscular, se acredita que los resultados obtenidos puedan ser afectados por la falta de familiarización previa, hasta mismo en sujetos con experiencia en ejercicios con pesos. Asi, el objetivo de este estudio fué investigar el impacto del proceso de familiarización para evaluación de la fuerza muscular en tests de 1-RM. Por lo tanto, 21 hombres (24,5 ± 3,8 años, aparentemente

Computer task performance by subjects with Duchenne muscular dystrophy.

Science.gov (United States)

Malheiros, Silvia Regina Pinheiro; da Silva, Talita Dias; Favero, Francis Meire; de Abreu, Luiz Carlos; Fregni, Felipe; Ribeiro, Denise Cardoso; de Mello Monteiro, Carlos Bandeira

2016-01-01

Two specific objectives were established to quantify computer task performance among people with Duchenne muscular dystrophy (DMD). First, we compared simple computational task performance between subjects with DMD and age-matched typically developing (TD) subjects. Second, we examined correlations between the ability of subjects with DMD to learn the computational task and their motor functionality, age, and initial task performance. The study included 84 individuals (42 with DMD, mean age of 18±5.5 years, and 42 age-matched controls). They executed a computer maze task; all participants performed the acquisition (20 attempts) and retention (five attempts) phases, repeating the same maze. A different maze was used to verify transfer performance (five attempts). The Motor Function Measure Scale was applied, and the results were compared with maze task performance. In the acquisition phase, a significant decrease was found in movement time (MT) between the first and last acquisition block, but only for the DMD group. For the DMD group, MT during transfer was shorter than during the first acquisition block, indicating improvement from the first acquisition block to transfer. In addition, the TD group showed shorter MT than the DMD group across the study. DMD participants improved their performance after practicing a computational task; however, the difference in MT was present in all attempts among DMD and control subjects. Computational task improvement was positively influenced by the initial performance of individuals with DMD. In turn, the initial performance was influenced by their distal functionality but not their age or overall functionality.

One-stage lengthening using a locked nailing technique for distal femoral shaft nonunions associated with shortening.

Science.gov (United States)

Wu, Chi-Chuan; Lee, Zhon-Liau

2004-02-01

To assess the effectiveness of a one-stage lengthening using a locked nail technique for the treatment of distal femoral shaft nonunions associated with shortening. Retrospective. University hospital. During a 6-year period, 36 distal femoral shaft nonunions associated with shortening (>1.5 cm) were treated by the one-stage lengthening technique. Indications for this technique were distal femoral shaft aseptic or quiescent infected nonunions, 1.5-5 cm shortening, and a fracture level suitable for the insertion of two distal locked screws. The surgical technique involved skeletal traction using the femoral condyle, local débridement, lengthening by lengthening was 2.5 cm (range 1.5-3.5 cm). One-stage lengthening using the locked nailing technique to treat distal femoral shaft nonunions associated with shortening can achieve a high success rate and low complication rate. The key to successful treatment is the patient's complete cooperation with strictly protected weight bearing until the fracture has healed.

Muscular strength is associated with self-esteem in college men but not women.

Science.gov (United States)

Ciccolo, Joseph T; SantaBarbara, Nicholas J; Dunsiger, Shira I; Busch, Andrew M; Bartholomew, John B

2016-12-01

Muscular strength is a well-known predictor of morbidity and mortality. Similarly, self-esteem is a predictor of health and well-being. The relationship between these two variables, however, is currently unknown. This study examined the cross-sectional relationship between maximal muscular strength (i.e. handgrip and one-repetition-maximum (1-RM) squat) and global self-esteem in 126 college students. Significant correlations were found between both measures of muscular strength and self-esteem. Further analyses revealed that these relationships were only significant for men. Based on these results, additional research is needed to further explore the relationship between muscular strength and self-esteem, especially in other demographic groups and longitudinally. © The Author(s) 2015.

Evaluation of muscular lesions in connective tissue diseases: thallium 201 muscular scans

International Nuclear Information System (INIS)

Guillet, G.; Guillet, J.; Sanciaume, C.; Maleville, J.; Geniaux, M.; Morin, P.

1988-01-01

We performed thallium 201 muscle scans to assess muscular involvement in 40 patients with different connective tissue diseases (7 with dermatomyositis, 7 with systemic lupus erythematosus, 12 with progressive systemic scleroderma, 2 with calcinosis, Raynaud's phenomenon, esophageal involvement, sclerodactyly, and telangiectasia (CREST) syndrome, 3 with monomelic scleroderma, 6 with morphea, and 3 with Raynaud's disease). Only 12 of these patients complained of fatigability and/or myalgia. Electromyography was performed and serum levels of muscle enzymes were measured in all patients. Comparison of thallium 201 exercise recording with the other tests revealed that scan sensitivity is greater than electromyographic and serum muscle enzymes levels. Thallium 201 scans showed abnormal findings in 32 patients and revealed subclinical lesions in 18 patients, while electromyography findings were abnormal in 25 of these 32 patients. Serum enzyme levels were raised in only 8 patients. Thallium 201 scanning proved to be a useful guide for modifying therapy when laboratory data were conflicting. It was useful to evaluate treatment efficacy. Because our data indicate a 100% positive predictive value, we believe that thallium 201 scanning should be advised for severe systemic connective tissue diseases with discordant test results

Evaluation of muscular lesions in connective tissue diseases: thallium 201 muscular scans

Energy Technology Data Exchange (ETDEWEB)

Guillet, G.; Guillet, J.; Sanciaume, C.; Maleville, J.; Geniaux, M.; Morin, P.

1988-04-01

We performed thallium 201 muscle scans to assess muscular involvement in 40 patients with different connective tissue diseases (7 with dermatomyositis, 7 with systemic lupus erythematosus, 12 with progressive systemic scleroderma, 2 with calcinosis, Raynaud's phenomenon, esophageal involvement, sclerodactyly, and telangiectasia (CREST) syndrome, 3 with monomelic scleroderma, 6 with morphea, and 3 with Raynaud's disease). Only 12 of these patients complained of fatigability and/or myalgia. Electromyography was performed and serum levels of muscle enzymes were measured in all patients. Comparison of thallium 201 exercise recording with the other tests revealed that scan sensitivity is greater than electromyographic and serum muscle enzymes levels. Thallium 201 scans showed abnormal findings in 32 patients and revealed subclinical lesions in 18 patients, while electromyography findings were abnormal in 25 of these 32 patients. Serum enzyme levels were raised in only 8 patients. Thallium 201 scanning proved to be a useful guide for modifying therapy when laboratory data were conflicting. It was useful to evaluate treatment efficacy. Because our data indicate a 100% positive predictive value, we believe that thallium 201 scanning should be advised for severe systemic connective tissue diseases with discordant test results.

Minimally-invasive plate osteosynthesis in distal tibial fractures: Results and complications.

Science.gov (United States)

Vidović, Dinko; Matejčić, Aljoša; Ivica, Mihovil; Jurišić, Darko; Elabjer, Esmat; Bakota, Bore

2015-11-01

Distal tibial or pilon fractures are usually the result of combined compressive and shear forces, and may result in instability of the metaphysis, with or without articular depression, and injury to the soft tissue. The complexity of injury, lack of muscle cover and poor vascularity make these fractures difficult to treat. Surgical treatment of distal tibial fractures includes several options: external fixation, IM nailing, ORIF and minimally-invasive plate osteosynthesis (MIPO). Management of distal tibial fractures with MIPO enables preservation of soft tissue and remaining blood supply. This is a report of a series of prospectively studied closed distal tibial and pilon fractures treated with MIPO. A total of 21 patients with closed distal tibial or pilon fractures were enrolled in the study between March 2008 and November 2013 and completed follow-up. Demographic characteristics, mechanism of injury, time required for union, ankle range of motion and complications were recorded. Fractures were classified according to the AO/OTA classification. Nineteen patients were initially managed with an ankle-spanning external fixator. When the status of the soft tissue had improved and swelling had subsided enough, a definitive internal fixation with MIPO was performed. Patients were invited for follow-up examinations at 3 and 6 weeks and then at intervals of 6 to 8 weeks until 12 months. Mean age of the patients was 40.1 years (range 19-67 years). Eighteen cases were the result of high-energy trauma and three were the result of low-energy trauma. According to the AO/OTA classification there were extraarticular and intraarticular fractures, but only simple articular patterns without depression or comminution. The average time for fracture union was 19.7 weeks (range 12-38 weeks). Mean range of motion was 10° of dorsiflexion (range 5-15°) and 28.3° of plantar flexion (range 20-35°). Three cases were metalwork-related complications. Two patients underwent plate removal

Respuesta al entrenamiento en EPOC: Diferencia entre limitación por fatiga muscular y por disnea

OpenAIRE

Martín Sívori; Laura Bustamante; Alejandro Martínez Fraga; Marta Almeida; César Saenz

2011-01-01

Este estudio comparó la respuesta post entrenamiento al ejercicio en pacientes limitados por fatiga muscular (LF) vs. disnea (LD). Se incluyeron pacientes con EPOC moderada y grave (definición GOLD), clasificándolos en LF si la respuesta a cicloergometría máxima tenía ≥ 2 puntos en la escala de Borg para fatiga muscular vs. disnea; LD a la inversa. Se realizaron ergometría submáxima, 6 minutos y pruebas de calidad de vida mediante cuestionario. Fueron entrenados 3 veces/semana, 90 min/sesión ...

Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: a randomised, double-blind, placebo-controlled trial.

Science.gov (United States)

Raman, Subha V; Hor, Kan N; Mazur, Wojciech; Halnon, Nancy J; Kissel, John T; He, Xin; Tran, Tam; Smart, Suzanne; McCarthy, Beth; Taylor, Michael D; Jefferies, John L; Rafael-Fortney, Jill A; Lowe, Jeovanna; Roble, Sharon L; Cripe, Linda H

2015-02-01

Cardiomyopathy is a leading cause of death in patients with Duchenne muscular dystrophy and myocardial damage precedes decline in left ventricular systolic function. We tested the efficacy of eplerenone on top of background therapy in patients with Duchenne muscular dystrophy with early myocardial disease. In this randomised, double-blind, placebo-controlled trial, boys from three centres in the USA aged 7 years or older with Duchenne muscular dystrophy, myocardial damage by late gadolinium enhancement cardiac MRI and preserved ejection fraction received either eplerenone 25 mg or placebo orally, every other day for the first month and once daily thereafter, in addition to background clinician-directed therapy with either angiotensin-converting enzyme inhibitors (ACEI) or angiotensin receptor blockers (ARB). Computer-generated randomisation was done centrally using block sizes of four and six, and only the study statistician and the investigational pharmacy had the preset randomisation assignments. The primary outcome was change in left ventricular circumferential strain (Ecc) at 12 months, a measure of contractile dysfunction. Safety was established through serial serum potassium levels and measurement of cystatin C, a non-creatinine measure of kidney function. This trial is registered with ClinicalTrials.gov, number NCT01521546. Between Jan 26, 2012, and July 3, 2013, 188 boys were screened and 42 were enrolled. 20 were randomly assigned to receive eplerenone and 22 to receive placebo, of whom 20 in the eplerenone group and 20 in the placebo group completed baseline, 6-month, and 12-month visits. After 12 months, decline in left ventricular circumferential strain was less in those who received eplerenone than in those who received placebo (median ΔEcc 1·0 [IQR 0·3-2·2] vs 2·2 [1·3-3·1]; p=0·020). Cystatin C concentrations remained normal in both groups, and all non-haemolysed blood samples showed normal potassium concentrations. One 23-year-old patient in

Autonomic Dysfunction in Muscular Dystrophy: A Theoretical Framework for Muscle Reflex Involvement

Directory of Open Access Journals (Sweden)

Scott Alan Smith

2014-02-01

Full Text Available Muscular dystrophies are a heterogeneous group of genetically inherited disorders whose most prominent clinical feature is progressive degeneration of skeletal muscle. In several forms of the disease, the function of cardiac muscle is likewise affected. The primary defect in this group of diseases is caused by mutations in myocyte proteins important to cellular structure and/or performance. That being stated, a growing body of evidence suggests that the development of autonomic dysfunction may secondarily contribute to the generation of skeletal and cardio-myopathy in muscular dystrophy. Indeed, abnormalities in the regulation of both sympathetic and parasympathetic nerve activity have been reported in a number of muscular dystrophy variants. However, the mechanisms mediating this autonomic dysfunction remain relatively unknown. An autonomic reflex originating in skeletal muscle, the exercise pressor reflex, is known to contribute significantly to the control of sympathetic and parasympathetic activity when stimulated. Given the skeletal myopathy that develops with muscular dystrophy, it is logical to suggest that the function of this reflex might also be abnormal with the pathogenesis of disease. As such, it may contribute to or exacerbate the autonomic dysfunction that manifests. This possibility along with a basic description of exercise pressor reflex function in health and disease are reviewed. A better understanding of the mechanisms that possibly underlie autonomic dysfunction in muscular dystrophy may not only facilitate further research but could also lead to the identification of new therapeutic targets for the treatment of muscular dystrophy.

Muscular strength and endurance and cardio-metabolic health in disadvantaged Hispanic children from the U.S.

Directory of Open Access Journals (Sweden)

Ryan D. Burns

2017-03-01

Full Text Available The predictive relationship between muscular strength and endurance and cardio-metabolic health, independent from aerobic fitness, is not clear in disadvantaged Hispanic children. The purpose of this study was to examine the predictive relationship between muscular strength and endurance and clustered cardio-metabolic risk, controlling for aerobic fitness, in Hispanic children from low-income schools. Participants were 320 Hispanic children (Mean age = 10.1 ± 1.1 years; 164 girls, 156 boys recruited during the 2014–2015 and 2015–2016 academic years from five low-income schools from the state of Utah in the U.S. Muscular strength and endurance was assessed using the push-up and curl-up tests and estimated VO2 Peak was calculated from the Progressive Aerobic Cardiovascular Endurance Run. A clustered metabolic syndrome composite score (MetS was calculated from cardio-metabolic health measurements consisting of HDL cholesterol, triglycerides, waist circumference, blood glucose, and mean arterial pressure (MAP. Multi-level general linear mixed effects models were used to examine the predictive relationship between muscular strength and endurance and MetS, controlling for the effect of aerobic fitness and the clustering of children within classrooms and schools. Children who were in the middle and upper tertiles for muscular strength and endurance associated with a lower (more favorable MetS score (middle tertile: β = −2.59, 95% C.I. [−4.23, −0.95], p < 0.05; upper tertile: β = −1.57, 95% C.I. [−3.20, −0.16], p < 0.05. The results suggest that higher levels of muscular strength and endurance relate to lower cardio-metabolic risk, independent of aerobic fitness, in Hispanic children from low-income schools.

Changes in Muscular Lipids in Unilateral Isolated Hypertrophy of Gastrocnemius Muscle Can Be Revealed by 1H MR Spectroscopy

International Nuclear Information System (INIS)

Brechtel, Klaus; Machann, Juergen; Pick, Margarete; Schaefer, Juergen F.; Claussen, Claus D.; Schick, Fritz

2009-01-01

To test whether proton magnetic resonance spectroscopy ( 1 H-MRS) reveals changes in the lipid content of the gastrocnemius muscle (GM) and soleus muscle (SOL) of a patient with unilateral isolated hypertrophy of the right GM. 1 H-MRS was performed on a 1.5 Tesla (T) wholebody unit. Muscular lipids inside SOL and GM were assessed in both calves of the patient by a STEAM (stimulated echo acquisition mode) localization sequence. Results were compared to a control group of four healthy volunteers. Total amount of muscular lipids in the hypertrophic GM of the patient was clearly increased compared to the controls (38.7 versus 21.8±3.5 a.u.) while intramyocellular lipids of the adjacent SOL were lower compared to the contralateral healthy leg. Muscular lipids are substrates for metabolism and can be assessed non-invasively by 1 H-MRS. 1 H-MRS is considered to be a helpful tool in clinical assessment of muscle metabolism in cases with muscular hypo- or hypertrophy

Intraoperative closure of infant multiple muscular ventricular septal defects with Amplatzer occluder

International Nuclear Information System (INIS)

Liu Jinfen; Gao Wei; Zhu Zhongqun; Chen Huiwen; Zhang Yuqi

2005-01-01

Objective: To report the preliminary experience of intraoperative hybrid therapy for closure of multiple muscular ventricular septal defects (VSD) in a small infant. Methods: After median sternotomy, a AGA Amplatzer occluder was introduced through right ventricular surface to close 2 muscular ventricular septal defects under transesophageal echocardiographic guidance. Results: The infant survived after the treatment without residual shunting, and rehabilitated rapidly. Conclusions: Intraoperative hybrid therapy with combined surgical technique and interventional procedure for closure of multiple muscular VSD in small infant is a safe and effective method. (authors)

Characterization of dystrophin deficient rats: a new model for Duchenne muscular dystrophy.

Science.gov (United States)

Larcher, Thibaut; Lafoux, Aude; Tesson, Laurent; Remy, Séverine; Thepenier, Virginie; François, Virginie; Le Guiner, Caroline; Goubin, Helicia; Dutilleul, Maéva; Guigand, Lydie; Toumaniantz, Gilles; De Cian, Anne; Boix, Charlotte; Renaud, Jean-Baptiste; Cherel, Yan; Giovannangeli, Carine; Concordet, Jean-Paul; Anegon, Ignacio; Huchet, Corinne

2014-01-01

A few animal models of Duchenne muscular dystrophy (DMD) are available, large ones such as pigs or dogs being expensive and difficult to handle. Mdx (X-linked muscular dystrophy) mice only partially mimic the human disease, with limited chronic muscular lesions and muscle weakness. Their small size also imposes limitations on analyses. A rat model could represent a useful alternative since rats are small animals but 10 times bigger than mice and could better reflect the lesions and functional abnormalities observed in DMD patients. Two lines of Dmd mutated-rats (Dmdmdx) were generated using TALENs targeting exon 23. Muscles of animals of both lines showed undetectable levels of dystrophin by western blot and less than 5% of dystrophin positive fibers by immunohistochemistry. At 3 months, limb and diaphragm muscles from Dmdmdx rats displayed severe necrosis and regeneration. At 7 months, these muscles also showed severe fibrosis and some adipose tissue infiltration. Dmdmdx rats showed significant reduction in muscle strength and a decrease in spontaneous motor activity. Furthermore, heart morphology was indicative of dilated cardiomyopathy associated histologically with necrotic and fibrotic changes. Echocardiography showed significant concentric remodeling and alteration of diastolic function. In conclusion, Dmdmdx rats represent a new faithful small animal model of DMD.

Laparoscopic distal pancreatectomy for pancreatic ductal adenocarcinoma: Long-term oncologic outcomes after standard resection.

Science.gov (United States)

Sahakyan, Mushegh A; Kim, Song Cheol; Kleive, Dyre; Kazaryan, Airazat M; Song, Ki Byung; Ignjatovic, Dejan; Buanes, Trond; Røsok, Bård I; Labori, Knut Jørgen; Edwin, Bjørn

2017-10-01

Surgical resection is the only curative option in patients with pancreatic ductal adenocarcinoma. Little is known about the oncologic outcomes of laparoscopic distal pancreatectomy. This bi-institutional study aimed to examine the long-term oncologic results of standard laparoscopic distal pancreatectomy in a large cohort of patients with pancreatic ductal adenocarcinoma. From January 2002 to March 2016, 207 patients underwent standard laparoscopic distal pancreatectomy for pancreatic ductal adenocarcinoma at Oslo University Hospital-Rikshospitalet (Oslo, Norway) and Asan Medical Centre (Seoul, Republic of Korea). After the exclusion criteria were applied (distant metastases at operation, conversion to an open operation, loss to follow-up), 186 patients were eligible for the analysis. Perioperative and oncologic variables were analyzed for association with recurrence and survival. Median overall and recurrence-free survivals were 32 and 16 months, while 5-year overall and recurrence-free survival rates were estimated to be 38.2% and 35.9%, respectively. Ninety-six (52%) patients developed recurrence: 56 (30%) extrapancreatic, 27 (15%) locoregional, and 13 (7%) combined locoregional and extrapancreatic. Thirty-seven (19.9%) patients had early recurrence (within 6 months of operation). In the multivariable analysis, tumor size >3 cm and no adjuvant chemotherapy were associated with early recurrence (P = .017 and P = .015, respectively). The Cox regression model showed that tumor size >3 cm and lymphovascular invasion were independent predictors of decreased recurrence-free and overall survival. Standard laparoscopic distal pancreatectomy is associated with satisfactory long-term oncologic outcomes in patients with pancreatic ductal adenocarcinoma. Several risk factors, such as tumor size >3 cm, no adjuvant chemotherapy, and lymphovascular invasion, are linked to poor prognosis after standard laparoscopic distal pancreatectomy. Copyright © 2017 Elsevier Inc

MR and ultrasound findings in a case of cerebro-oculo-muscular-syndrome

International Nuclear Information System (INIS)

Simma, B.; Maurer, H.; Gassner, I.; Krassnitzer, S.; Felber, S.

1990-01-01

We report on a boy with type II lissencephaly and congenital muscular dystrophy. The patient presented with the features of a cerebro-oculo-muscular-syndrome (COMS). We describe the clinical presentations and the characteristic sonographic and MR findings. (orig.)

Intramuscular renin-angiotensin system is activated in human muscular dystrophy.

Science.gov (United States)

Sun, Guilian; Haginoya, Kazuhiro; Dai, Hongmei; Chiba, Yoko; Uematsu, Mitsugu; Hino-Fukuyo, Naomi; Onuma, Akira; Iinuma, Kazuie; Tsuchiya, Shigeru

2009-05-15

To investigate the role of the muscular renin-angiotensin system (RAS) in human muscular dystrophy, we used immunohistochemistry and Western blotting to examine the cellular localization of angiotensin-converting enzyme (ACE), the angiotensin II type 1 receptor (AT1) and the angiotensin II type 2 receptor (AT2) in muscle biopsies from patients with Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and congenital muscular dystrophy (CMD). In normal muscle, ACE was expressed in vascular endothelial cells and neuromuscular junctions (NMJs), whereas AT1 was immunolocalized to the smooth muscle cells of blood vessels and intramuscular nerve twigs. AT2 was immunolocalized in the smooth muscle cells of blood vessels. These findings suggest that the RAS has a functional role in peripheral nerves and NMJs. ACE and AT1, but AT2 immunoreactivity were increased markedly in dystrophic muscle as compared to controls. ACE and the AT1 were strongly expressed in the cytoplasm and nuclei of regenerating muscle fibers, fibroblasts, and in macrophages infiltrating necrotic fibers. Double immunolabeling revealed that activated fibroblasts in the endomysium and perimysium of DMD and CMD muscle were positive for ACE and AT1. Triple immunolabeling demonstrated that transforming growth factor-beta1 (TGF-beta1) and ACE were colocalized on the cytoplasm of activated fibroblasts in dystrophic muscle. Furthermore, Western blotting showed increases in the expression of AT1 and TGF-beta1 protein in dystrophic muscle, which coincided with our immunohistochemical results. The overexpression of ACE and AT1 in dystrophic muscle would likely result in the increased production of Ang II, which may act on these cells in an autocrine manner via AT1. The activation of AT1 may induce fibrous tissue formation through overexpression of TGF-beta1, which potently activates fibrogenesis and suppresses regeneration. In conclusion, our results imply that the intramuscular RAS-TGF-beta1 pathway

The role of imaging in diagnosing diseases of the distal radioulnar joint, triangular fibrocartilage complex, and distal ulna.

Science.gov (United States)

Squires, Judy H; England, Eric; Mehta, Kaushal; Wissman, Robert D

2014-07-01

The purpose of this article is to review the anatomy, biomechanics, and multimodality imaging findings of common and uncommon distal radioulnar joint (DRUJ), triangular fibrocartilage complex, and distal ulna abnormalities. The DRUJ is a common site for acute and chronic injuries and is frequently imaged to evaluate chronic wrist pain, forearm dysfunction, and traumatic forearm injury. Given the complex anatomy of the wrist, the radiologist plays a vital role in the diagnosis of wrist pain and dysfunction.

Fibroblast cultures in duchenne muscular dystrophy

International Nuclear Information System (INIS)

Ionasescu, V.; Lara-Braud, C.; Zellweger, H.; Ionasescu, R.; Burmeister, L.

1977-01-01

Primary skin fibroblast cultures were grown from forearm pinch skin biopsies obtained from 24 patients with Duchenne muscular dystrophy (DMD) and ten normal controls matched for sex and age. The first subcultures were grown for 7 days and incubated with L-( 3 H)-proline for 24 hours. Intracellular collagen incoption was significantly decreased (2.2 X) and extracellular collagen incorporation significantly increased (1.8 X) in fibroblast cultures from patients with DMD by both collagenase assay and polyacrylamide gel electrophoresis. The synthesis of noncollagen proteins showed low values from the DMD fibroblast cultures. The alterations in synthesis and secretion of collagen and noncollagen proteins were characteristic only for the log phase of DMD fibroblasts. (author)

Alignment After Intramedullary Nailing of Distal Tibia Fractures Without Fibula Fixation.

Science.gov (United States)

De Giacomo, Anthony F; Tornetta, Paul

2016-10-01

To evaluate the efficacy of intramedullary nailing of distal tibia fractures using modern techniques, without fibula fixation, in obtaining and maintaining alignment. Retrospective case review. Level-I academic trauma center. One hundred thirty-two consecutive patients with distal tibia fractures. Intramedullary nail of distal tibia fracture, without fibula fixation, was performed in consecutive patients using modern reduction techniques. Malalignment and malunion were defined as >5 degrees of varus/valgus angulation or anterior/posterior angulation on the initial postoperative or final anteroposterior and lateral x-rays. There were 122 consecutive patients (86 men and 36 women) 16-93 years of age (average, 43 years) with 36 (30%) open and 85 (70%) closed fractures with complete follow-up. Mechanism of injury did not predict the presence or level of fibula fracture. Upon presentation, varus/valgus and procurvatum/recurvatum angulation was greatest when the fibula was fractured at the level of the tibia fracture (P = 0.001 and 0.028). The most common intraoperative reduction aids were nailing in relative extension, transfixion external fixation, and clamps at the fracture site. The OTA fracture type or level/presence of fibula fracture did not influence malalignment (P = 0.86 and 0.66), malunion (P = 0.81 and 0.79), or the change in alignment during union, which averaged 0.9 degrees. We found an overall low rate of both malalignment (2%) and malunion (3%) after intramedullary nailing of distal tibial shaft fracture without fibula fixation. We conclude that when modern nailing techniques are used, which allow for confirmation of reduction by visualization in fluoroscopy, from nail placement to distal interlocking, fibula fixation is not necessary to obtain or maintain alignment. Furthermore, standard 2 medial to lateral screws distally afford adequate stability to hold the reduction during union with a 0.9-degree difference in the initial postoperative and final

Minimally invasive percutaneous plate fixation of distal tibia fractures.

LENUS (Irish Health Repository)

Bahari, Syah

2007-10-01

We report a series of 42 patients reviewed at a mean of 19.6 months after treatment of distal tibial and pilon fractures using the AO distal tibia locking plate with a minimally invasive percutaneous plate osteosynthesis (MIPPO) technique. Mean time to union was 22.4 weeks. All fractures united with acceptable alignment and angulation. Two cases of superficial infection were noted, with one case of deep infection. Mean SF36 score was 85 and mean AOFAS score was 90 at a mean of 19 months follow-up. We report satisfactory outcomes with the use of the AO distal tibia locking plate in treatment of unstable distal tibial fractures. Eighty-nine percent of the patients felt that they were back to their pre injury status and 95% back to their previous employment.

Hereditary muscular dystrophies and the heart

NARCIS (Netherlands)

Hermans, M. C. E.; Pinto, Y. M.; Merkies, I. S. J.; de Die-Smulders, C. E. M.; Crijns, H. J. G. M.; Faber, C. G.

2010-01-01

Cardiac disease is a common clinical manifestation of neuromuscular disorders, particularly of muscular dystrophies. Heart muscle cells as well as specialized conducting myocardial fibres may be affected by the dystrophic process. The incidence and nature of cardiac involvement vary with different

Effect of sildenafil on skeletal and cardiac muscle in Becker muscular dystrophy

DEFF Research Database (Denmark)

Witting, Nanna; Kruuse, Christina; Nyhuus, Bo

2014-01-01

OBJECTIVE: Patients with Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy lack neuronal nitric oxide synthase (nNOS). nNOS mediates physiological sympatholysis, thus ensuring adequate blood supply to working muscle. In mice lacking dystrophin, restoration of nNOS effects...

Investigation of Poor Academic Achievement in Children with Duchenne Muscular Dystrophy

Science.gov (United States)

Hinton, V. J.; De Vivo, D. C.; Fee, R.; Goldstein, E.; Stern, Y.

2004-01-01

Duchenne Muscular Dystrophy (DMD) is a neurogenetic developmental disorder that presents with progressive muscular weakness. It is caused by a mutation in a gene that results in the absence of specific products that normally localize to muscle cells and the central nervous system (CNS). The majority of affected individuals have IQs within the…

Meeting the Assistive Technology Needs of Students with Duchenne Muscular Dystrophy

Science.gov (United States)

Heller, Kathryn Wolff; Mezei, Peter J.; Avant, Mary Jane Thompson

2009-01-01

Students with Duchenne muscular dystrophy (DMD) have a degenerative disease that requires ongoing changes in assistive technology (AT). The AT team needs to be knowledgeable about the disease and its progression in order to meet these students' changing needs in a timely manner. The unique needs of students with Duchenne muscular dystrophy in…

Respuestas y adaptaciones de la funci??n y estructura musculares al entrenamiento oclusivo con resistencias de baja intensidad

OpenAIRE

Mart??n Hern??ndez, Juan

2013-01-01

137 p. Los objetivos de esta tesis doctoral, que se presenta como compendio de publicaciones, fueron: (1) Estudiar las respuestas de la arquitectura muscular a una sola sesi??n de entrenamiento oclusivo y comparar ??stas con las observadas tras una sesi??n de entrenamiento tradicional con resistencias de alta intensidad; (2) Estudiar las adaptaciones de la fuerza din??mica y el grosor muscular a dos vol??menes diferentes de entrenamiento oclusivo; (3) Comparar estos resultados con los obte...

Electroestimulación neuromuscular intradiálisis, fuerza muscular, capacidad funcional y composición corporal

Directory of Open Access Journals (Sweden)

Sandra Rubio Páez

2015-12-01

Full Text Available Introducción: La capacidad funcional disminuida y la importante atrofia muscular caracterizan a los pacientes en hemodiálisis (HD. El ejercicio físico intradiálisis y recientemente la electroestimulación neuromuscular (EMS, representan dos serias opciones terapéuticas para mejorar esta deteriorada condición física. Actualmente, no existen estudios publicados sobre el papel de la EMS y la composición corporal en los pacientes en HD. Objetivo: Analizar que efecto produce un programa de EMS sobre la fuerza muscular, capacidad funcional, parámetros nutricionales y composición corporal en nuestros pacientes en HD. Material y Métodos: Estudio unicéntrico, prospectivo de 12 semanas de duración. Los pacientes incluidos realizaron un programa adaptativo de EMS en ambos cuádriceps intradiálisis mediante el dispositivo Compex R Theta 500i. Analizamos: 1.- Parámetros nutricionales (Albumina, pre albúmina, triglicéridos, colesterol total y fracciones, ferritina y Proteína C reactiva. 2.- Datos musculares: Composición muscular cuadriceps, Fuerza extensión máxima cuádriceps (FEMQ y handgrip (HG brazo dominante. 3.- Test funcionales: "Sit to stand to sit" (STS10 y "six-minutes walking test" (6MWT. 4.- Composición corporal mediante biompedancia electrica (BIA. Resultados: 13 pacientes incluidos: (69.2% hombres. Edad media: 65.7 años y 33.9 meses en HD. I.Charlson medio 9.1. La principal etiología de la ERC fue la DM (38.5%. Al final del estudio se observó una mejoría en (*p<0.05: FEMQ* (11.7±7.1 vs 13.4±7.4 Kg, STS10 (39.3±15.5 vs 35.8±13.7 seg, 6MWT* (9.9%, 293.2 vs 325.2 m. En relación a la composición corporal, se observó únicamente un aumento significativo del área muscular (AMQ*: 128.6 ± 30.2 vs 144.6 ± 22.4 cm² y una disminución del área grasa (AGQ*: 76.5 ± 26.9 vs 62.1 ± 20.1 cm² a nivel quadricipital, sin cambios en el resto de datos analizados (% grasa abdominal, peso graso, peso magro, agua corporal total

Coexisting diseases of moyamoya vasculopathy.

Science.gov (United States)

Wei, Yi-Chia; Liu, Chi-Hung; Chang, Ting-Yu; Chin, Shy-Chyi; Chang, Chien-Hung; Huang, Kuo-Lun; Chang, Yeu-Jhy; Peng, Tsung-I; Lee, Tsong-Hai

2014-07-01

Several coexisting diseases have been reported in patients with moyamoya vasculopathy (MMV), but studies of quasi-moyamoya disease (quasi-MMD) are rare. This study aims to investigate the frequency of known coexisting diseases in patients with quasi-MMD and to compare quasi-MMD with moyamoya disease (MMD). Between 2000 and 2011, we retrospectively screened patients with International Classification of Diseases, Ninth Revision, code of 4375 (MMD) in the Health Information System of our hospital. The vascular images of each patient were confirmed by 2 neurologists and 1 neuroradiologist based on the diagnostic criteria of Japan Ministry of Health and Welfare. We excluded the patients with missing images and erroneous diagnosis. Demographics, coexisting diseases, laboratory data, treatment, and recurrent strokes were recorded. The eligible patients were divided into quasi-MMD and MMD groups according to the presence or absence of coexisting diseases. MMV was found in 90 patients including 37 (41.1%) quasi-MMD and 53 (58.9%) MMD. Atherosclerosis (32.4%) and thyroid disease (29.7%) were the leading coexisting diseases in quasi-MMD. Patients with MMD became symptomatic in a bimodal age distribution, whereas patients with quasi-MMD became symptomatic in a single-peak distribution. The prognosis of recurrent strokes was similar between quasi-MMD and MMD based on Kaplan-Meier analysis. A bimodal distribution of onset age was noted in MMD, whereas a single-peak distribution was found in quasi-MMD. Coexisting diseases were usually underevaluated but were more common than expected in patients with MMV. Atherosclerosis and thyroid diseases were the leading coexisting diseases in different preferential age. Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.

Implementation of enhanced recovery programme for laparoscopic distal pancreatectomy: feasibility, safety and cost analysis.

Science.gov (United States)

Richardson, John; Di Fabio, Francesco; Clarke, Hannah; Bajalan, Mohammed; Davids, Joe; Abu Hilal, Mohammed

2015-01-01

The adoption of laparoscopy for distal pancreatectomy has proven to substantially improve short-term outcomes. Stress response after major surgery can be further minimized within an enhanced recovery programme (ERP). However, data on the potential benefit of an ERP for laparoscopic distal pancreatectomy are still lacking. The aim was to assess the feasibility, safety and cost of ERP for patients undergoing laparoscopic distal pancreatectomy. This is a case-control study from a Tertiary University Hospital. Sixty-six consecutive patients who underwent laparoscopic distal pancreatectomy were analyzed. Twenty-two patients were enrolled for the ERP and compared with previous consecutive 44 patients managed traditionally (1:2 ratio). Operative details, post-operative outcome and cost analysis were compared in the two groups. Patients enrolled in the ERP had similar intraoperative blood loss (median 165 ml vs. 200 ml; p = 0.176), operation time (225 min vs. 210 min; p = 0.633), time to remove naso-gastric tube (1 vs. 1 day; p = 0.081) but significantly shorter time to mobilization (median 1 vs. 2 days; p = 0.0001), start solid diet (2 vs. 3 days; p = 0004), and pass stools (3 vs. 5 days; p = 0.002) compared to the control group. Median length of stay was significantly shorter in the ERP group (3 vs. 6 days; p pancreatectomy with significant earlier return to normal gut function, reduced length of stay and cost saving. Copyright © 2015 IAP and EPC. Published by Elsevier B.V. All rights reserved.

Cost-effectiveness of laparoscopic versus open distal pancreatectomy for pancreatic cancer

NARCIS (Netherlands)

Gurusamy, Kurinchi Selvan; Riviere, Deniece; van Laarhoven, C. J. H.; Besselink, Marc; Abu-Hilal, Mohammed; Davidson, Brian R.; Morris, Steve

2017-01-01

A recent Cochrane review compared laparoscopic versus open distal pancreatectomy for people with for cancers of the body and tail of the pancreas and found that laparoscopic distal pancreatectomy may reduce the length of hospital stay. We compared the cost-effectiveness of laparoscopic distal

A Comprehensive Reanalysis of the Distal Iliotibial Band: Quantitative Anatomy, Radiographic Markers, and Biomechanical Properties.

Science.gov (United States)

Godin, Jonathan A; Chahla, Jorge; Moatshe, Gilbert; Kruckeberg, Bradley M; Muckenhirn, Kyle J; Vap, Alexander R; Geeslin, Andrew G; LaPrade, Robert F

2017-09-01

(ridges). The proximal and distal bundles inserted on the distal femur 53.6 mm (95% CI, 50.7-56.6 mm) and 31.4 mm (95% CI, 27.3-35.5 mm) proximal to the lateral epicondyle, respectively. The centers of the bundle insertions were 22.5 mm (95% CI, 19.1-25.9 mm) apart. The total insertion area of the distal ITB on the proximal tibia was 429.1 mm 2 (95% CI, 349.2-509.1 mm 2 ). A distinct capsulo-osseous layer of the distal ITB was also identified that was intimately related to the lateral knee capsule. Its origin was in close proximity to the lateral gastrocnemius tubercle, and it inserted on the proximal tibia at the lateral tibial tubercle between the fibular head and the Gerdy tubercle. Radiographic analysis supported the quantitative anatomic findings. The mean maximum load during pull-to-failure testing was 71.3 N (95% CI, 41.2-101.4 N) and 170.2 N (95% CI, 123.6-216.8 N) for the proximal and distal Kaplan bundles, respectively. The most important finding of this study was that 2 distinct deep bundles (Kaplan fibers) of the distal ITB were identified. Each bundle of the deep layer of the ITB was associated with a newly identified distinct bony ridge. Radiographic analysis confirmed the measurements previously recorded and established reproducible landmarks for the newly described structures. Biomechanical testing revealed that the Kaplan fibers had a strong attachment to the distal femur, thereby supporting a role in rotational knee stability. The identification of 2 distinct deep fiber (Kaplan) attachments clarifies the function of the ITB more definitively. The results also support the role of the ITB in rotatory knee stability because of the fibers' vectors and their identified maximum loads. These findings provide the anatomic and biomechanical foundation needed for the development of reconstruction or repair techniques to anatomically address these deficiencies in knee ligament injuries.

[Comparison of laparoscopic distal pancreatectomy and open distal pancreatectomy in pancreatic ductal adenocarcinoma].

Science.gov (United States)

Xu, K; Su, J J; Su, M; Yan, L; Feng, J; Xin, X L; Chen, Y L

2017-10-23

Objective: To compare and evaluate the curative effect of laparoscopic distal pancreatectomy(LDP) and traditional open distal pancreatectomy(ODP) in pancreatic ductal adenocarcinoma. Methods: The clinical data of 15 patients treated by LDP and 87 contemporaneous cases treated by ODP from January 2010 to November 2015 was collected, and the curative effect and prognosis of these patients were retrospectively analyzed. Results: The operation time of LDP group was (286.5±48.1) min, significantly longer than that of OPD group(226.6±56.8) min ( P 0.05). In both LDP group and ODP group, none occurred percutaneous drainage, re-admissions, second operation or perioperative death. Conclusions: Compared to ODP, LDP is much safer and more steady in perioperative periodand operation. Patients of pancreatic ductal adenocarcinoma received LDP can acquire more benefit and recovery sooner, and LDP is a safe and effective operative method.

A Comparison of the Effects of Short-Term Plyometric and Resistance Training on Lower Body Muscular Performance.

Science.gov (United States)

Whitehead, Malcolm T; Scheett, Timothy P; McGuigan, Michael R; Auckland, N Z; Martin, Angel V

2017-11-01

The purpose of this study was to compare effects of short-term plyometric and resistance training on lower body muscular performance. A convenience sample of thirty males aged 21.3 ± 1.8 years, height 177.3 ± 9.4 cm, mass 80.0 ± 2.6 kg, body fat 16.1 ± 1.2 % participated in this investigation. Participants were grouped and participated in progressive plyometric (PLT) or resistance training (SRT) twice per week for eight consecutive weeks or a control (CNT) group that did not participate in any training. Performance tests were administered prior to and following the training period and included measures of high-speed muscular strength (standing long jump, vertical jump), low-speed muscular strength (one-repetition maximal back squat), running speed (20-meter sprint) and running agility (505 agility test agility test-Test). Analysis of variance followed by post hoc analyses was performed to determine significant differences between the groups. Significance set at p ≤ 0.05 for all analyses. Significant improvements were observed in the PLT group for standing long jump, vertical jump, and one-repetition maximal back squat compared to the CNT group, and for vertical jump as compared to the SRT group. Significant improvements were observed in the SRT group one-repetition maximal back squat compared to the CNT group. There were no differences observed between any of the groups for the 20-meter sprint or the 505 agility test following the training. These data indicate eight weeks of progressive plyometric training results in improvements in parameters of high and low-speed muscular strength with no appreciable change in speed or agility. Additionally, the improvement in low-speed muscular strength observed from 8-weeks of progressive plyometric training was comparable to the results observed from 8-weeks of progressive strength training.

Retrograde nailing for distal femur fractures in the elderly

Directory of Open Access Journals (Sweden)

Giddie Jasdeep

2015-01-01

Full Text Available Introduction: We report the results of treating a series of 56 fractures in 54 elderly patients with a distal femur fracture with a retrograde femoral nail. Methods: Fifty-four of the nails were inserted percutaneously with a closed reduction. After surgery all patients were allowed to weight bear as tolerated. Four fractures were supported in a temporary external splint. Results: The mean age of patients was 80.6 years (range 51–103 years, 52/54 (96% were females. There were no cases of nail related complications and no re-operations were required. One patient was lost to follow up. The 30-day mortality was 5/54 (9.3% and the one year mortality was 17/54 (31.5%. Conclusions: Distal femoral nail fixation provides a good method of fixation allowing immediate mobilisation for this group of patients.

Dystrophin Immunity in Duchenne’s Muscular Dystrophy

Science.gov (United States)

Mendell, Jerry R.; Campbell, Katherine; Rodino-Klapac, Louise; Sahenk, Zarife; Shilling, Chris; Lewis, Sarah; Bowles, Dawn; Gray, Steven; Li, Chengwen; Galloway, Gloria; Malik, Vinod; Coley, Brian; Clark, K. Reed; Li, Juan; Xiao, Xiao; Samulski, Jade; McPhee, Scott W.; Samulski, R. Jude; Walker, Christopher M.

2010-01-01

SUMMARY We report on delivery of a functional dystrophin transgene to skeletal muscle in six patients with Duchenne’s muscular dystrophy. Dystrophin-specific T cells were detected after treatment, providing evidence of transgene expression even when the functional protein was not visualized in skeletal muscle. Circulating dystrophin-specific T cells were unexpectedly detected in two patients before vector treatment. Revertant dystrophin fibers, which expressed functional, truncated dystrophin from the deleted endogenous gene after spontaneous in-frame splicing, contained epitopes targeted by the autoreactive T cells. The potential for T-cell immunity to self and nonself dystrophin epitopes should be considered in designing and monitoring experimental therapies for this disease. (Funded by the Muscular Dystrophy Association and others; ClinicalTrials.gov number, NCT00428935.) PMID:20925545

Treatment of muscular rheumatism with 99Tc-MDP (one case report)

International Nuclear Information System (INIS)

Wang Jincheng

2001-01-01

Objective: To observe the value of using Yun Ke ( 99 Tc-MDP) to cure muscular rheumatism. Methods: A 10 years old male patient was diagnosed with muscular rheumatism. His symptoms were wandering and muscular pain and tenderness at lumbosacral region, abdomen and double crus. He was given therapy with Yun Ke everyday, intravenous injection of 5 mg for 30 days. Results: After intravenous injection of Yun Ke within 8 to 72 hours, the pain in the left crus, the lumbosacral portion and the right crus was reduced in respective order. Finally, the pain disappeared, and only the abdominal pain remained. Between 6 and 30 days, the area of abdominal pain reduced little by little to the size of 1.0 x 1.0 cm 2 , which was beside the navel. On the 33 rd day after the initial treatment, we injected him in the previous mentioned area with prednisone and the pain disappeared. Conclusion: Yun Ke ( 99 Tc-MDP) is a new medicine for the treatment of rheumatism, and we believe muscular rheumatism is a new indication of Yun Ke

Zebrafish models flex their muscles to shed light on muscular dystrophies.

Science.gov (United States)

Berger, Joachim; Currie, Peter D

2012-11-01

Muscular dystrophies are a group of genetic disorders that specifically affect skeletal muscle and are characterized by progressive muscle degeneration and weakening. To develop therapies and treatments for these diseases, a better understanding of the molecular basis of muscular dystrophies is required. Thus, identification of causative genes mutated in specific disorders and the study of relevant animal models are imperative. Zebrafish genetic models of human muscle disorders often closely resemble disease pathogenesis, and the optical clarity of zebrafish embryos and larvae enables visualization of dynamic molecular processes in vivo. As an adjunct tool, morpholino studies provide insight into the molecular function of genes and allow rapid assessment of candidate genes for human muscular dystrophies. This unique set of attributes makes the zebrafish model system particularly valuable for the study of muscle diseases. This review discusses how recent research using zebrafish has shed light on the pathological basis of muscular dystrophies, with particular focus on the muscle cell membrane and the linkage between the myofibre cytoskeleton and the extracellular matrix.

SIRT1: A Novel Target for the Treatment of Muscular Dystrophies

Directory of Open Access Journals (Sweden)

Atsushi Kuno

2016-01-01

Full Text Available Muscular dystrophies are inherited myogenic disorders accompanied by progressive skeletal muscle weakness and degeneration. Duchenne muscular dystrophy (DMD is the most common and severe form of muscular dystrophy and is caused by mutations in the gene that encodes the cytoskeletal protein dystrophin. The treatment for DMD is limited to glucocorticoids, which are associated with multiple side effects. Thus, the identification of novel therapeutic targets is urgently needed. SIRT1 is an NAD+-dependent histone/protein deacetylase that plays roles in diverse cellular processes, including stress resistance and cell survival. Studies have shown that SIRT1 activation provides beneficial effects in the dystrophin-deficient mdx mouse, a model of DMD. SIRT1 activation leads to the attenuation of oxidative stress and inflammation, a shift from the fast to slow myofiber phenotype, and the suppression of tissue fibrosis. Although further research is needed to clarify the molecular mechanisms underlying the protective role of SIRT1 in mdx mice, we propose SIRT1 as a novel therapeutic target for patients with muscular dystrophies.

Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.

Science.gov (United States)

Momma, Kazunari; Noguchi, Satoru; Malicdan, May Christine V; Hayashi, Yukiko K; Minami, Narihiro; Kamakura, Keiko; Nonaka, Ikuya; Nishino, Ichizo

2012-01-01

Rimmed vacuoles in myofibers are thought to be due to the accumulation of autophagic vacuoles, and can be characteristic in certain myopathies with protein inclusions in myofibers. In this study, we performed a detailed clinical, molecular, and pathological characterization of Becker muscular dystrophy patients who have rimmed vacuoles in muscles. Among 65 Becker muscular dystrophy patients, we identified 12 patients who have rimmed vacuoles and 11 patients who have deletions in exons 45-48 in DMD gene. All patients having rimmed vacuoles showed milder clinical features compared to those without rimmed vacuoles. Interestingly, the rimmed vacuoles in Becker muscular dystrophy muscles seem to represent autophagic vacuoles and are also associated with polyubiquitinated protein aggregates. These findings support the notion that rimmed vacuoles can appear in Becker muscular dystrophy, and may be related to the chronic changes in muscle pathology induced by certain mutations in the DMD gene.

Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.

Directory of Open Access Journals (Sweden)

Kazunari Momma

Full Text Available Rimmed vacuoles in myofibers are thought to be due to the accumulation of autophagic vacuoles, and can be characteristic in certain myopathies with protein inclusions in myofibers. In this study, we performed a detailed clinical, molecular, and pathological characterization of Becker muscular dystrophy patients who have rimmed vacuoles in muscles. Among 65 Becker muscular dystrophy patients, we identified 12 patients who have rimmed vacuoles and 11 patients who have deletions in exons 45-48 in DMD gene. All patients having rimmed vacuoles showed milder clinical features compared to those without rimmed vacuoles. Interestingly, the rimmed vacuoles in Becker muscular dystrophy muscles seem to represent autophagic vacuoles and are also associated with polyubiquitinated protein aggregates. These findings support the notion that rimmed vacuoles can appear in Becker muscular dystrophy, and may be related to the chronic changes in muscle pathology induced by certain mutations in the DMD gene.

Brain Function in Duchenne Muscular Dystrophy

Directory of Open Access Journals (Sweden)

J. Gordon Millichap

2002-02-01

Full Text Available The role of dystrophin disorders in the CNS function of boys with Duchenne muscular dystrophy (DMD and the dystrophin-deficient mdx mouse, an animal model of DMD, is reviewed at the University of New South Wales, University of Sydney, Australia.

Laparoscopic distal pancreatectomy for adenocarcinoma: safe and reasonable?

Science.gov (United States)

Postlewait, Lauren M.

2015-01-01

As a result of technological advances during the past two decades, surgeons now use minimally invasive surgery (MIS) approaches to pancreatic resection more frequently, yet the role of these approaches for pancreatic ductal adenocarcinoma resections remains uncertain, given the aggressive nature of this malignancy. Although there are no controlled trials comparing MIS technique to open surgical technique, laparoscopic distal pancreatectomy for pancreatic adenocarcinoma is performed with increasing frequency. Data from retrospective studies suggest that perioperative complication profiles between open and laparoscopic distal pancreatectomy are similar, with perhaps lower blood loss and fewer wound infections in the MIS group. Concerning oncologic outcomes, there appear to be no differences in the rate of achieving negative margins or in the number of lymph nodes (LNs) resected when compared to open surgery. There are limited recurrence and survival data on laparoscopic compared to open distal pancreatectomy for pancreatic adenocarcinoma, but in the few studies that assess long term outcomes, recurrence rates and survival outcomes appear similar. Recent studies show that though laparoscopic distal pancreatectomy entails a greater operative cost, the associated shorter length of hospital stay leads to decreased overall cost compared to open procedures. Multiple new technologies are emerging to improve resection of pancreatic cancer. Robotic pancreatectomy is feasible, but there are limited data on robotic resection of pancreatic adenocarcinoma, and outcomes appear similar to laparoscopic approaches. Additionally fluorescence-guided surgery represents a new technology on the horizon that could improve oncologic outcomes after resection of pancreatic adenocarcinoma, though published data thus far are limited to animal models. Overall, MIS distal pancreatectomy appears to be a safe and reasonable approach to treating selected patients with pancreatic ductal

Evaluacion del factor central y periferico en fatiga muscular en pacientes com daño piramidal

Directory of Open Access Journals (Sweden)

Carlos G. Schutz

1983-09-01

Full Text Available Para evaluar algunos de los componentes de la fatiga muscular en el daño piramidal, se seleccionó un grupo de 15 pacientes con hemiparesia faciobraquiocrural de severidad variable, los cuales fueron sometidos a un esfuerzo muscular, durante el cual se evaluaron los cambios de la frecuencia y duración de los potenciales positivos y negativos del EMG, asi como los sufridos por la onda M máxima al principio y fin del mismo. El estudio fue realizado en el lado parético, el contralateral y en un grupo control de voluntarios sanos, comparándose los resultados de los 3 grupos. Las curvas de frecuencia y duración del lado parético, el sano y el control mantuvieron las mismas tendencias, así como fue homologable el comportamiento de la onda M máxima en los 3 casos, lo cual indica que en la espasticidad, debido a daño de la vía piramidal, al igual que en la población normal, bajo las presentes condiciones de estudio, es el factor central el condicionante principal en el desarrollo de fatiga muscular.

Assessing mental health in boys with Duchenne muscular dystrophy: Emotional, behavioural and neurodevelopmental profile in an Italian clinical sample.

Science.gov (United States)

Colombo, Paola; Nobile, Maria; Tesei, Alessandra; Civati, Federica; Gandossini, Sandra; Mani, Elisa; Molteni, Massimo; Bresolin, Nereo; D'Angelo, Grazia

2017-07-01

To evaluate through a comprehensive protocol, the psychopathological profile of DMD boys. The primary aim of this observational study was to describe the emotional and behavioural profile and the neurodevelopmental problems of Italian boys with Duchenne Muscular Dystrophy (DMD); the secondary aim was to explore the relation between psychopathological profile and DMD genotype. 47 DMD boys, aged 2-18, were included in the study and assessed through structured and validated tools including Wechsler scales or Griffiths for cognitive ability, Child Behavior Check List (CBCL), Youth Self Report (YSR) and Strengths and Difficulties Questionnaire (SDQ) for emotional and behavioural features. Patients "at risk" based on questionnaires scores were evaluated by a clinical structured interview using Development and Well Being Assessment (DAWBA) or Autism Diagnostic Observation Schedule (ADOS), as required. The 47 enrolled patients, defined with a Full Scale Intelligence Quotient (FSIQ) of 80.38 (one SD below average), and presenting a large and significant difference in FSIQ in relation to the site of mutation along the dystrophin gene (distal mutations associated with a more severe cognitive deficit), were showing Internalizing Problems (23.4%) and Autism Spectrum Disorders (14.8%). Interestingly, an association of internalizing problems with distal deletion of the DMD gene is documented. Even though preliminary, these data show that the use of validated clinical instruments, that focus on the impact of emotional/behaviour problems on everyday life, allows to carefully identify clinically significant psychopathology. Copyright © 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Laparoscopic distal pancreatectomy: results of a prospective non-randomized study from a tertiary center.

Science.gov (United States)

Palanivelu, C; Shetty, R; Jani, K; Sendhilkumar, K; Rajan, P S; Maheshkumar, G S

2007-03-01

Though laparoscopic distal pancreatectomy for benign conditions was first described in the early 1990s, it has not become as popular as other laparoscopic surgeries. Published literature on this topic consists of several case reports and a handful of small series. We present our experience, which, to the best of our knowledge, is the largest series reported to date. Since 1998, 22 patients have undergone distal pancreatectomy at our institute. The technique of distal pancreatosplenectomy, as well as spleen-preserving distal pancreatectomy, is described. Four males and 18 females in the age range of 12-69 years underwent operation. Splenic preservation was possible in 7 patients. The tumor diameter ranged from 2.1 cm to 7.4 cm. The mean operating time was 215 min. The mean length of incision required for specimen retrieval was 3.4 cm. All patients were started on a liquid diet on the first postoperative day. The median hospital stay was 4 days. One patient developed a pancreatic fistula that was managed conservatively. At the end of an average follow-up of 4.6 years, no recurrence has been reported. Laparoscopic distal pancreatectomy is a safe procedure, with minimal morbidity, rapid recovery, and short hospital stay. In appropriate cases, splenic preservation is feasible.

Distal finger replantation.

Science.gov (United States)

Scheker, Luis R; Becker, Giles W

2011-03-01

Reconstruction of the fingertip distal to the flexor tendon insertion by replantation remains controversial and technically challenging, but the anatomy of the fingertip has been well described and provides help in surgical planning. The open-book surgical technique is described with potential complications and is illustrated with clinical cases. Copyright © 2011 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

Influence of Implant Position on Stress Distribution in Implant-Assisted Distal Extension Removable Partial Dentures: A 3D Finite Element Analysis.

Science.gov (United States)

Memari, Yeganeh; Geramy, Allahyar; Fayaz, Amir; Rezvani Habib Abadi, Shirin; Mansouri, Yasaman

2014-09-01

Distal extension removable partial denture is a prosthesis with lack of distal dental support with a 13-fold difference in resiliency between the mucosa and the periodontal ligament, resulting in leverage during compression forces. It may be potentially destructive to the abutments and the surrounding tissues. The aim of this study was to assess the effect of implant location on stress distribution, in distal extension implant assisted removable partial dentures. Three-dimensional models of a bilateral distal extension partially edentulous mandible containing anterior teeth and first premolar in both sides of the arch, a partial removable denture and an implant (4×10mm) were designed. With the aid of the finite element program ANSYS 8.0, the models were meshed and strictly vertical forces of 10 N were applied to each cusp tip. Displacement and von Mises Maps were plotted for visualization of results. When an implant was placed in the second premolar region, the highest stress on implant, abutment tooth and cancellous bone was shown. The lowest stress was shown on implant and bone in the 1(st) molar area. Implants located in the first molar area showed the least distribution of stresses in the analyzed models.

Serum Creatinine Level: A Supplemental Index to Distinguish Duchenne Muscular Dystrophy from Becker Muscular Dystrophy

Directory of Open Access Journals (Sweden)

Huili Zhang

2015-01-01

Full Text Available Background. To improve assessment of dystrophinopathy, the aim of this study was to identify whether serum creatinine (Crn level reflects disease severity. Methods. Biochemical, Vignos score, and genetic data were collected on 212 boys with dystrophinopathy. Results. Serum Crn level had a strong inverse correlation with Vignos score by simple correlation (r=-0.793 and partial correlation analysis after adjustment for age, height, and weight (r=-0.791; both P<0.01. Serum Crn level was significantly higher in patients with in-frame than out-of-frame mutations (Z=-4.716, P<0.01 and in Becker muscular dystrophy (BMD patients than Duchenne muscular dystrophy (DMD patients at ages 4, 5, 7, and 9 yr (all P<0.0125. After adjusting for age, height, and weight, BMD patients still had a significantly higher serum Crn level than DMD patients (β=7.140, t=6.277, P<0.01. Conclusions. Serum Crn level reflected disease severity and may serve as a supplemental index to distinguish DMD from BMD in clinical practice.

Insuficiência cardíaca congestiva na distrofia muscular de Duchenne: um relato de caso

Directory of Open Access Journals (Sweden)

Paula de Souza Dias Lopes

2012-07-01

Full Text Available A distrofia muscular de Duchenne é uma doença neuromuscular, hereditária, recessiva, causada por mutações no gene da distrofina. Clinicamente, caracteriza-se por fraqueza muscular progressiva e simétrica. O diagnóstico é feito pela biópsia muscular com imuno-histoquímica e o tratamento tem a finalidade de retardar a progressão da disfunção muscular, já que uma causa frequente de óbito é a insuficiência cardiorrespiratória.

Clinical and functional outcome of open primary repair of triangular fibrocartilage complex tears associated with distal radius fractures.

Science.gov (United States)

Johandi, Faisal; Sechachalam, Sreedharan

2017-01-01

We evaluate the clinical and functional outcome of open primary repair of acute TFCC tears in distal radius fracture, when there is gross intraoperative distal radioulnar joint (DRUJ) instability after fixation of the distal radius, in the absence of an ulnar styloid fracture or when the ulnar fracture fragment is too small to be fixed. A retrospective review of our institution's distal radius fracture database over a 4-year period (January 2010 to December 2013). A total of 12 (1.38%) out of 3379 patients had an open TFCC repair in the same setting as fixation of distal radius. Assessment of outcome involved the analysis of objective and subjective clinical and functional outcomes. All patient regained Activities of Daily Living (ADL) independence; eleven out of 12 patients (91.7%) returned to pre-injury function and 8 out of 11 patients (72.7%) returned to their jobs. DRUJ stability was preserved in 10 patients (83.3%) with 10 patients (83.3%) having grip strength of at least 50%, compared to the uninjured hand, and 7 (58.3%) with grip strength of more than or equal to 75%. Complications of surgery identified can be classified into 4 broad categories: infection, neurological complications, persistent DRUJ instability and prolonged pain. The authors believe a primary open repair of the TFCC should be considered when patients present with instability during intra-operative DRUJ ballottement test after distal radius fixation, in the absence of an ulnar styloid fracture or when the ulnar fracture fragment is too small to be fixed.

O retardo mental na distrofia muscular de Duchenne

Directory of Open Access Journals (Sweden)

Flávia Nardes

2012-02-01

Full Text Available OBJETIVO: Fazer um levantamento da literatura médica destinada ao estudo das disfunções cognitivas nos pacientes com distrofia muscular de Duchenne, através da descrição dos marcos do desenvolvimento neuropsicomotor e dos testes psicométricos para quantificação da inteligência. FONTES DOS DADOS: Revisão não sistemática sobre os aspectos da cognição na distrofia muscular de Duchenne nas principais bases médicas científicas: MEDLINE, LILACS, Biblioteca Cochrane e SciELO. SÍNTESE DOS DADOS: Os pacientes com distrofia muscular de Duchenne apresentaram atraso para marcha e desenvolvimento da linguagem, os quais se correlacionaram a menores pontuações nos testes de inteligência no futuro. Há marcante disfunção nos subtestes das habilidades verbais. CONCLUSÕES: A média do coeficiente de inteligência encontra-se com um desvio padrão abaixo da média populacional. Quanto maior a disfunção cognitiva, piores serão os aspectos relacionados à morbidade e mortalidade na doença.

Distal femoral osteotomy in genovalgum: internal fixation with blade plate versus casting.

Science.gov (United States)

Makhmalbaf, Hadi; Moradi, Ali; Ganji, Saeid

2014-10-01

To compare the results of two different ways of distal femoral osteotomy stabilization in patients suffering from genuvalgum: internal fixation with plate, and casting. In a non-randomized prospective study, after distal femoral osteotomy with the zigzag method, patients were divided into two groups: long leg casting, and internal fixation with blade plate. For all patients, questionnaires were filled to obtain data. Information such as range of motion, tibiofemoral anatomical angle and complications were recorded. 38 knees with valgus deformity underwent distal femoral supracondylar osteotomy. (8 with plaster cast and 30 with internal fixation using a blade plate). Preoperative range of motion was 129±6° and six months later it was 120±14°. The preoperative tibiofemoral angle was 32±6°; postoperative tibiofemoral angles were 3±3°, 6±2°, and 7±3° just after operation, six months, and two years later, respectively. Although this angle was greater among the group stabilized with a cast, this difference was not statistically significant. In postoperative complications, over-correction was found in five, recorvatom deformity in one, knee stiffness in three and superficial wound infection was recorded in three knees. There is no prominent difference in final range of motion and alignment whether fixation is done with casting or internal fixation. However, the complication rate seems higher in the casting method.

Distal renal tubular acidosis and hepatic lipidosis in a cat.

Science.gov (United States)

Brown, S A; Spyridakis, L K; Crowell, W A

1986-11-15

Clinical and laboratory evidence of hepatic failure was found in a chronically anorectic cat. Simultaneous blood and urine pH determinations established a diagnosis of distal renal tubular acidosis. The cat did not respond to treatment. Necropsy revealed distal tubular nephrosis and hepatic lipidosis. The finding of distal renal tubular acidosis in a cat with hepatic lipidosis emphasizes the importance of complete evaluation of acid-base disorders in patients.

Multicenter comparative study of laparoscopic and open distal pancreatectomy using propensity score-matching.

Science.gov (United States)

Nakamura, Masafumi; Wakabayashi, Go; Miyasaka, Yoshihiro; Tanaka, Masao; Morikawa, Takanori; Unno, Michiaki; Tajima, Hiroshi; Kumamoto, Yusuke; Satoi, Sohei; Kwon, Masanori; Toyama, Hirochika; Ku, Yonson; Yoshitomi, Hideyuki; Nara, Satoshi; Shimada, Kazuaki; Yokoyama, Takahide; Miyagawa, Shinichi; Toyama, Yoichi; Yanaga, Katsuhiko; Fujii, Tsutomu; Kodera, Yasuhiro; Tomiyama, Yasuyuki; Miyata, Hiroaki; Takahara, Takeshi; Beppu, Toru; Yamaue, Hiroki; Miyazaki, Masaru; Takada, Tadahiro

2015-10-01

Laparoscopic distal pancreatectomy has been shown to be associated with favorable postoperative outcomes using meta-analysis. However, there have been no randomized controlled studies yet. This study aimed to compare laparoscopic and open distal pancreatectomy using propensity score-matching. We retrospectively collected perioperative data of 2,266 patients who underwent distal pancreatectomy in 69 institutes from 2006-2013 in Japan. Among them, 2,010 patients were enrolled in this study and divided into two groups, laparoscopic distal pancreatectomy and open distal pancreatectomy. Perioperative outcomes were compared between the groups using unmatched and propensity matched analysis. After propensity score-matching, laparoscopic distal pancreatectomy was associated with favorable perioperative outcomes compared with open distal pancreatectomy, including higher rate of preservation of spleen and splenic vessels (P pancreatectomy was associated with more favorable perioperative outcomes than open distal pancreatectomy. © 2015 Japanese Society of Hepato-Biliary-Pancreatic Surgery.

Duchenne and Becker muscular dystrophy in adolescents: current perspectives

Directory of Open Access Journals (Sweden)

Andrews JG

2018-03-01

Full Text Available Jennifer G Andrews, Richard A Wahl Department of Pediatrics, University of Arizona, Tucson, AZ, USA Abstract: Duchenne muscular dystrophy (DMD and Becker muscular dystrophy (BMD are life-limiting and progressive neuromuscular conditions with significant comorbidities, many of which manifest during adolescence. BMD is a milder presentation of the condition and much less prevalent than DMD, making it less represented in the literature, or more severely affected individuals with BMD may be subsumed into the DMD population using clinical cutoffs. Numerous consensus documents have been published on the clinical management of DMD, the most recent of which was released in 2010. The advent of these clinical management consensus papers, particularly respiratory care, has significantly increased the life span for these individuals, and the adolescent years are now a point of transition into adult lives, rather than a period of end of life. This review outlines the literature on DMD and BMD during adolescence, focusing on clinical presentation during adolescence, impact of living with a chronic illness on adolescents, and the effect that adolescents have on their chronic illness. In addition, we describe the role that palliative-care specialists could have in improving outcomes for these individuals. The increasing proportion of individuals with DMD and BMD living into adulthood underscores the need for more research into interventions and intracacies of adolescence that can improve the social aspects of their lives. Keywords: adolescent health, review, Duchenne muscular dystrophy, Becker muscular dystrophy, dystrophinopathy, palliative care

Proximal spinal muscular atrophy: current orthopedic perspective

Directory of Open Access Journals (Sweden)

Haaker G

2013-11-01

Full Text Available Gerrit Haaker, Albert Fujak Department of Orthopaedic Surgery, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany Abstract: Spinal muscular atrophy (SMA is a hereditary neuromuscular disease of lower motor neurons that is caused by a defective "survival motor neuron" (SMN protein that is mainly associated with proximal progressive muscle weakness and atrophy. Although SMA involves a wide range of disease severity and a high mortality and morbidity rate, recent advances in multidisciplinary supportive care have enhanced quality of life and life expectancy. Active research for possible treatment options has become possible since the disease-causing gene defect was identified in 1995. Nevertheless, a causal therapy is not available at present, and therapeutic management of SMA remains challenging; the prolonged survival is increasing, especially orthopedic, respiratory and nutritive problems. This review focuses on orthopedic management of the disease, with discussion of key aspects that include scoliosis, muscular contractures, hip joint disorders, fractures, technical devices, and a comparative approach of conservative and surgical treatment. Also emphasized are associated complications including respiratory involvement, perioperative care and anesthesia, nutrition problems, and rehabilitation. The SMA disease course can be greatly improved with adequate therapy with established orthopedic procedures in a multidisciplinary therapeutic approach. Keywords: spinal muscular atrophy, scoliosis, contractures, fractures, lung function, treatment, rehabilitation, surgery, ventilation, nutrition, perioperative management

Management of myocardial damage in muscular dystrophy

International Nuclear Information System (INIS)

Tamura, Takuhisa

2011-01-01

Heart failure (HF) is a fatal complication in many muscular dystrophy cases and has become the most common cause of death in Duchenne muscular dystrophy (DMD) since 2001. HF deaths in DMD occur in young patients and increase, along with respiratory failure, in older patients. Managing HF, therefore, is the most important component of DMD treatment. Management of HF is necessary in DMD patients of all ages because myocardial damage progresses regardless of age and disability. Electrocardiography, echocardiography, myocardial single-photon emission computed tomography (SPECT), and natriuretic peptides are used for the diagnosis of myocardial damage and chronic HF. Tissue Doppler echocardiography is in particularly useful for early detection of minute myocardial damage and dysfunction in DMD. The first-line drugs for chronic HF are angiotensin-converting enzyme inhibitors, and the prognosis of DMD patients has been improved using these drugs and beta-blockers. Diuretics are added in the presence of pulmonary congestion. Digoxin is most effective at a blood level of 0.5-0.8 ng/mL because of its pharmacokinetics in DMD. Surgical treatment may be necessary in cases of intractable HF. Cardiac resynchronization therapy (biventricular pacing), a treatment with an artificial pacemaker, is indicated for cases that meet specific criteria, including HF with ventricular dyssynchrony. Applications of partial left ventriculectomy (Batista procedure) and left ventricular assist devices in muscular dystrophy are likely in the near future. (author)

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.

Science.gov (United States)

Nicole, Sophie; Chaouch, Amina; Torbergsen, Torberg; Bauché, Stéphanie; de Bruyckere, Elodie; Fontenille, Marie-Joséphine; Horn, Morten A; van Ghelue, Marijke; Løseth, Sissel; Issop, Yasmin; Cox, Daniel; Müller, Juliane S; Evangelista, Teresinha; Stålberg, Erik; Ioos, Christine; Barois, Annie; Brochier, Guy; Sternberg, Damien; Fournier, Emmanuel; Hantaï, Daniel; Abicht, Angela; Dusl, Marina; Laval, Steven H; Griffin, Helen; Eymard, Bruno; Lochmüller, Hanns

2014-09-01

Congenital myasthenic syndromes are a clinically and genetically heterogeneous group of rare diseases resulting from impaired neuromuscular transmission. Their clinical hallmark is fatigable muscle weakness associated with a decremental muscle response to repetitive nerve stimulation and frequently related to postsynaptic defects. Distal myopathies form another clinically and genetically heterogeneous group of primary muscle disorders where weakness and atrophy are restricted to distal muscles, at least initially. In both congenital myasthenic syndromes and distal myopathies, a significant number of patients remain genetically undiagnosed. Here, we report five patients from three unrelated families with a strikingly homogenous clinical entity combining congenital myasthenia with distal muscle weakness and atrophy reminiscent of a distal myopathy. MRI and neurophysiological studies were compatible with mild myopathy restricted to distal limb muscles, but decrement (up to 72%) in response to 3 Hz repetitive nerve stimulation pointed towards a neuromuscular transmission defect. Post-exercise increment (up to 285%) was observed in the distal limb muscles in all cases suggesting presynaptic congenital myasthenic syndrome. Immunofluorescence and ultrastructural analyses of muscle end-plate regions showed synaptic remodelling with denervation-reinnervation events. We performed whole-exome sequencing in two kinships and Sanger sequencing in one isolated case and identified five new recessive mutations in the gene encoding agrin. This synaptic proteoglycan with critical function at the neuromuscular junction was previously found mutated in more typical forms of congenital myasthenic syndrome. In our patients, we found two missense mutations residing in the N-terminal agrin domain, which reduced acetylcholine receptors clustering activity of agrin in vitro. Our findings expand the spectrum of congenital myasthenic syndromes due to agrin mutations and show an unexpected

Case of early pelviolumeral progressive muscular dystrophy associated with marked heart affection

International Nuclear Information System (INIS)

Gor'kova, N.B.; Starykh, L.M.; Karpova, L.E.

1991-01-01

A case of early pelviolumeral progressive muscular dystrophy detected in childhood and associated with marked heart affection is described. Patient underwent multimodality examination, including ECG, ultrasonography, roentgenography. It is shown that patients with progressive muscular dystrophy should receive medical supervision and treatment of both neuropathologist and therapist

Rehabilitative technology use among individuals with Duchenne/Becker muscular dystrophy.

Science.gov (United States)

Pandya, Shree; Andrews, Jennifer; Campbell, Kim; Meaney, F John

2016-01-01

To document use of rehabilitative technology among individuals with Duchenne/Becker muscular dystrophy (DBMD) among sites of the Muscular Dystrophy Surveillance, Tracking, and Research network (MD STARnet). Data from 362 caregivers who participated in the MD STARnet caregiver interview between April 2006 and March 2012 (54.7% response rate) were analyzed to assess the type, frequency and duration of use of assistive technology. Caregiver reports of technology use by individuals with DBMD across five MD STARnet sites in the US demonstrated significant regional differences in the proportion of individuals who had ever used night splints (36.9%-73.0%), standers (3.1%-22.2%) and scooters (10.7%-54.5%). Among individuals who used night splints 59.7% stopped using them at a mean age of 10.3 years after a mean duration of 2.9 years in spite of the current recommendation to continue using them through the non-ambulatory phase. Results of this comprehensive survey document the frequency of assistive device use by individuals with DBMD in the USA and also provides data on differences across the sites. Further research is needed to understand the reasons for and the impact of these differences on clinical outcomes and health related quality of life of individuals with DBMD.

A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8.

Science.gov (United States)

Bouhy, Delphine; Juneja, Manisha; Katona, Istvan; Holmgren, Anne; Asselbergh, Bob; De Winter, Vicky; Hochepied, Tino; Goossens, Steven; Haigh, Jody J; Libert, Claude; Ceuterick-de Groote, Chantal; Irobi, Joy; Weis, Joachim; Timmerman, Vincent

2018-01-01

Mutations in the small heat shock protein B8 gene (HSPB8/HSP22) have been associated with distal hereditary motor neuropathy, Charcot-Marie-Tooth disease, and recently distal myopathy. It is so far not clear how mutant HSPB8 induces the neuronal and muscular phenotypes and if a common pathogenesis lies behind these diseases. Growing evidence points towards a role of HSPB8 in chaperone-associated autophagy, which has been shown to be a determinant for the clearance of poly-glutamine aggregates in neurodegenerative diseases but also for the maintenance of skeletal muscle myofibrils. To test this hypothesis and better dissect the pathomechanism of mutant HSPB8, we generated a new transgenic mouse model leading to the expression of the mutant protein (knock-in lines) or the loss-of-function (functional knock-out lines) of the endogenous protein Hspb8. While the homozygous knock-in mice developed motor deficits associated with degeneration of peripheral nerves and severe muscle atrophy corroborating patient data, homozygous knock-out mice had locomotor performances equivalent to those of wild-type animals. The distal skeletal muscles of the post-symptomatic homozygous knock-in displayed Z-disk disorganisation, granulofilamentous material accumulation along with Hspb8, αB-crystallin (HSPB5/CRYAB), and desmin aggregates. The presence of the aggregates correlated with reduced markers of effective autophagy. The sciatic nerve of the homozygous knock-in mice was characterized by low autophagy potential in pre-symptomatic and Hspb8 aggregates in post-symptomatic animals. On the other hand, the sciatic nerve of the homozygous knock-out mice presented a normal morphology and their distal muscle displayed accumulation of abnormal mitochondria but intact myofiber and Z-line organisation. Our data, therefore, suggest that toxic gain-of-function of mutant Hspb8 aggregates is a major contributor to the peripheral neuropathy and the myopathy. In addition, mutant Hspb8 induces

Fractures of the bilateral distal radius and scaphoid: a case report

Directory of Open Access Journals (Sweden)

Ozkan Korhan

2008-03-01

Full Text Available Abstract Introduction Bilateral fractures of the distal radius and scaphoid are extremely rare injuries. Case presentation A patient with bilateral comminuted, displaced distal fractures of the radius and bilateral fractures of the scaphoid was treated via internal fixation of the scaphoid fractures with Herbert screws and internal fixation of the distal radius fractures with locked volar plating. Conclusion Rigid internal fixation of distal radius and scaphoid fractures is mandatory to start early active rehabilitation of the wrist without the need for wrist immobilization with a plaster or external skeletal fixation.

Atrofia muscular espinal tipo 1: enfermedad de Werdnig-Hoffmann

OpenAIRE

Zárate-Aspiros, Romeo; Rosas-Sumano, Ana Beatriz; Paz-Pacheco, Alberto; Fenton-Navarro, Patricia; Chinas-López, Silvet; López-Ríos, José Antonio

2013-01-01

Introducción. Las atrofias musculares espinales de la infancia son enfermedades neuromusculares hereditarias, autosómicas, recesivas, caracterizadas por la degeneración de las neuronas motoras del asta anterior de la médula espinal. La atrofia muscular espinal tipo I (enfermedad de Werdnig-Hoffmann) es la forma más severa. Se inicia in útero o durante los primeros meses de vida. La muerte suele ocurrir antes de los dos años de edad. Caso clínico. Lactante de 6 meses de edad que ingresa al Ser...

Magnetic resonance imaging of children with Duchenne muscular dystrophy

Energy Technology Data Exchange (ETDEWEB)

Schreiber, A.; Smith, W.L.; Franken, E.A.; Dunn, V.; Ehrhardt, J.; Ionasescu, V.; Zellweger, H.

1987-10-01

Eight children representing a spectrum of clinical states of biopsy-proven Duchenne muscular dystrophy (DMD) underwent magnetic resonance (MR) scans to assess the degree of muscular involvement and disease progression. Five muscle groups (neck, shoulder girdle, pelvic girdle, thigh and calf) were evaluated. In each case, involved muscles were clearly demarcated. Image estimates of disease severity by degree of muscle involvement correlated well with clinical staging. In our experience MR is useful for assessment of disease stage, selection of appropriate muscles for biopsy and planning for courses of physical and rehabilitation therapy.

Magnetic resonance imaging of children with Duchenne muscular dystrophy

International Nuclear Information System (INIS)

Schreiber, A.; Smith, W.L.; Franken, E.A.; Dunn, V.; Ehrhardt, J.; Ionasescu, V.; Zellweger, H.

1987-01-01

Eight children representing a spectrum of clinical states of biopsy-proven Duchenne muscular dystrophy (DMD) underwent magnetic resonance (MR) scans to assess the degree of muscular involvement and disease progression. Five muscle groups (neck, shoulder girdle, pelvic girdle, thigh and calf) were evaluated. In each case, involved muscles were clearly demarcated. Image estimates of disease severity by degree of muscle involvement correlated well with clinical staging. In our experience MR is useful for assessment of disease stage, selection of appropriate muscles for biopsy and planning for courses of physical and rehabilitation therapy. (orig.)

Muscular outputs during dynamic bench press under stable versus unstable conditions.

Science.gov (United States)

Koshida, Sentaro; Urabe, Yukio; Miyashita, Koji; Iwai, Kanzunori; Kagimori, Aya

2008-09-01

Previous studies have suggested that resistance training exercise under unstable conditions decreases the isometric force output, yet little is known about its influence on muscular outputs during dynamic movement. The objective of this study was to investigate the effect of an unstable condition on power, force, and velocity outputs during the bench press. Twenty male collegiate athletes (mean age, 21.3 +/- 1.5 years; mean height, 167.7 +/- 7.7 cm; mean weight, 75.9 +/- 17.5 kg) participated in this study. Each subject attempted 3 sets of single bench presses with 50% of 1 repetition maximum (1RM) under a stable condition with a flat bench and an unstable condition with a Swiss ball. Acceleration data were obtained with an accelerometer attached to the center of a barbell shaft, and peak outputs of power, force, and velocity were computed. Although significant loss of the peak outputs was found under the unstable condition (p velocity outputs, compared with previous findings. Such small reduction rates of muscular outputs may not compromise the training effect. Prospective studies are necessary to confirm whether the resistance training under an unstable condition permits the improvement of dynamic performance and trunk stability.

Treatment of unstable intraarticular fracture of distal radius: POP casting with external fixation.

Science.gov (United States)

ur Rahman, Obaid; Khan, Mohammad Qadeem; Rasheed, Haroon; Ahmad, Saleem

2012-04-01

To compare radiological and functional outcome of external fixation and distraction with conservative Plaster of Paris (POP) cast for unstable intra-articular fractures of the distal radius. The study was conducted on 60 patients with unstable intra-articular fracture of distal radius who reported to emergency or outpatient Orthopaedic Surgery department of Benazir Bhutto Hospital, Rawalpindi, between March and August 2007. They were divided into two equal groups: Group A and Group B, treated by Plaster of Paris cast, and external fixation with distraction respectively. The functional outcome in terms of freedom from pain, range of movement, grip power and deformity, and the radiological outcome of radial length, incongruity and radio-ulnar joint position were analysed at three months follow-up using a 3-point scoring scale. In Group A, 1 (3%) patient showed excellent result, 8 (27%) patients good results, 19 (63%) patients fair results and 2 (7%) patients poor result. In Group B, 14 (47%) patients showed excellent results, 11 (37%) patients good results, 4 (13%) patients fair results and 1 (3%) patient poor result. The outcome score of the Group B patients was significantly better compared to the Group A patients (p value advantages over conventional Plaster of Paris cast in the treatment of unstable intra-articular fractures of distal radius.

Creatine kinase response to high-intensity aerobic exercise in adult-onset muscular dystrophy

DEFF Research Database (Denmark)

Andersen, Søren P; Sveen, Marie-Louise; Hansen, Regitze S

2013-01-01

We investigated the effect of high-intensity exercise on plasma creatine kinase (CK) in patients with muscular dystrophies.......We investigated the effect of high-intensity exercise on plasma creatine kinase (CK) in patients with muscular dystrophies....

A case of distal extrahepatic cholangiocarcinoma with two positive resection margins.