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Latest myopathy publications Archive Dec 2007:-

High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. Related Articles

High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.

Am Heart J. 2007 Dec;154(6):1130-9

Latest myopathy articles Authors: van Tintelen JP, Hofstra RM, Katerberg H, Rossenbacker T, Wiesfeld AC, du Marchie Sarvaas GJ, Wilde AA, van Langen IM, Nannenberg EA, van der Kooi AJ, Kraak M, van Gelder IC, van Veldhuisen DJ, Vos Y, van den Berg MP,

BACKGROUND: Among the most frequently encountered mutations in dilated cardiomyopathy (DCM) are those in the lamin A/C (LMNA) gene. Our goal was to analyze the LMNA gene in patients with DCM and/or conduction disease referred to the cardiogenetics outpatient clinic and to evaluate the prevalence of LMNA mutations and their clinical expression. METHODS AND RESULTS: The LMNA gene was screened in 61 index patients. Eleven mutations (including 6 novel) were identified, mainly in the subgroup of familial DCM with cardiac conduction disease (3/10 index patients) and in patients with DCM and Emery-Dreifuss, Limb-Girdle, or unclassified forms of muscular dystrophy (7/8 index patients). In addition, a mutation was identified in 1 of 4 families with only cardiac conduction disease. We did not identify any large deletions or duplications. Genotype-phenotype relationships revealed a high rate of sudden death and cardiac transplants in carriers of the p.N195K mutation. Our study confirmed that the p.R225X mutation leads to cardiac conduction disease with late or no development of DCM, underscoring the importance of this mutation in putative familial "lone conduction disease." Nearly one third of LMNA mutation carriers had experienced a thromboembolic event. CONCLUSIONS: This study highlights the role of LMNA mutations in DCM and related disorders. A severe phenotype in p.N195K mutation carriers and preferential cardiac conduction disease in p.R225X carriers was encountered. Because of the clinical variability, including the development of associated symptoms in time, LMNA screening should be considered in patients with DCM or familial lone conduction disease.

Latest myopathy articles PMID: 18035086 [PubMed - indexed for MEDLINE]Choreoacanthocytosis in a Mexican family. Related Articles

Choreoacanthocytosis in a Mexican family.

Arch Neurol. 2007 Nov;64(11):1661-4

Latest myopathy articles Authors: Ruiz-Sandoval JL, García-Navarro V, Chiquete E, Dobson-Stone C, Monaco AP, Alvarez-Palazuelos LE, Padilla-Martínez JJ, Barrera-Chairez E, Rodríguez-Figueroa EI, Pérez-García G

BACKGROUND: Choreoacanthocytosis (CHAC) (Online Mendelian Inheritance in Man accession No. 200150) is a hereditary neurodegenerative syndrome characterized by movement disorders, cognitive decline, myopathy, behavioral changes, and acanthocytosis and is caused by mutations in the VPS13A gene. OBJECTIVE: To describe the cases of 2 Mexican women with clinical and molecular characteristics compatible with CHAC. DESIGN: Case reports. Patients Choreoacanthocytosis was identified in 2 Mexican mestizo sisters with healthy consanguineous parents. Clinical manifestations began at different ages. RESULTS: The onset of signs and symptoms of CHAC in the proband was at age 32 years and was characterized by balancing problems followed by chorea, compulsive lip and tongue biting with buccolingual self-mutilation, dysarthria, dysphagia, and weight loss. The first clinical manifestations in the proband's sister occurred at age 45 years and included multiple motor and verbal tics, with coprolalia, followed by lip and tongue biting, self-mutilation, and chorea. The clinical findings in both sisters were remarkable for acanthocytosis that developed late, when neurologic changes were already evident. Mutation screening of the VPS13A gene revealed homozygosity for the frameshift mutation c.3556_3557dupAC in exon 33. Currently, the proband's sister, in whom neurologic defects developed 13 years after onset of CHAC in the proband, is the least affected. CONCLUSIONS: The same mutation of the VPS13A gene can be expressed differently in the same family. This observation confirms the notion that there is considerable heterogeneity in the clinical manifestation of CHAC.

Latest myopathy articles PMID: 17998451 [PubMed - in process]Coenzyme Q10 in statin-associated myopathy. Related Articles

Coenzyme Q10 in statin-associated myopathy.

J Am Coll Cardiol. 2007 Nov 6;50(19):1911; author reply 1911

Latest myopathy articles Authors: Wolinsky H

Latest myopathy articles PMID: 17980261 [PubMed - in process]A 'natural' threat. Related Articles

A 'natural' threat.

Am J Med. 2007 Nov;120(11):e3-4

Latest myopathy articles Authors: Cartin-Ceba R, Lu LB, Kolpakchi A

Latest myopathy articles PMID: 17976405 [PubMed - indexed for MEDLINE]Magnetic resonance imaging of soft-tissue tumors: determinate and indeterminate lesions. Related Articles

Magnetic resonance imaging of soft-tissue tumors: determinate and indeterminate lesions.

J Bone Joint Surg Am. 2007 Oct;89 Suppl 3:103-15

Latest myopathy articles Authors: Papp DF, Khanna AJ, McCarthy EF, Carrino JA, Farber AJ, Frassica FJ

Latest myopathy articles PMID: 17908876 [PubMed - indexed for MEDLINE]Functional problems and arthrofibrosis following total knee arthroplasty. Related Articles

Functional problems and arthrofibrosis following total knee arthroplasty.

J Bone Joint Surg Am. 2007 Oct;89 Suppl 3:59-69

Latest myopathy articles Authors: Seyler TM, Marker DR, Bhave A, Plate JF, Marulanda GA, Bonutti PM, Delanois RE, Mont MA

Latest myopathy articles PMID: 17908871 [PubMed - indexed for MEDLINE]T cell receptor profiling in muscle and blood lymphocytes in sporadic inclusion body myositis. Related Articles

T cell receptor profiling in muscle and blood lymphocytes in sporadic inclusion body myositis.

Neurology. 2007 Oct 23;69(17):1672-9

Latest myopathy articles Authors: Salajegheh M, Rakocevic G, Raju R, Shatunov A, Goldfarb LG, Dalakas MC

BACKGROUND: Sporadic IBM (sIBM) is characterized by invasion of non-necrotic MHC-I class-expressing muscle fibers by clonally expanded CD8+ cells. Whether the endomysial cells expand in situ or are recruited from the circulation is unclear. METHODS: We used CDR3 spectratyping of the T cell receptor (TCR) V beta chains to determine clonal expansion of T cells in simultaneously obtained muscle and peripheral blood lymphocytes (PBL) from 12 patients with sIBM, and compared the difference between the two compartments. To determine whether the identified clones belonged to autoinvasive T cells, we performed immunohistochemistry on the same muscle specimens. Spectratyping was repeated in four muscle biopsies 1 year after the first. RESULTS: In control PBL, all 24 TCR V beta subfamilies had a polyclonal or Gaussian distribution. In sIBM PBL, 5% of the V beta subfamilies demonstrated a single and 16% up to three peaks. In contrast, in their corresponding muscles, 27% (p = 0.0003) of the V beta subfamilies demonstrated a single and 71% (p < 0.0001) up to three peaks. Among the amplified subfamilies, V beta 9, 10, 11, 16, 18, 23, and 24 showed the highest degree of restriction within muscle. Immunohistochemistry demonstrated that the clonally expanded CD8+ cells were autoinvasive. In follow-up biopsies the clonality persisted with an unchanged degree of restriction, but not always of the same subfamilies, suggesting epitope spreading. CONCLUSION: In sporadic inclusion body myositis, the endomysial T cells are specifically recruited to the muscle or expand in situ. The restriction of multiple V beta subfamilies and their change over time suggests recognition of various local antigens and epitope spreading.

Latest myopathy articles PMID: 17954782 [PubMed - indexed for MEDLINE]Communicating foramen between the tendon sheaths of the extensor carpi radialis brevis and extensor pollicis longus muscles: imaging of cadavers and patients. Related Articles

Communicating foramen between the tendon sheaths of the extensor carpi radialis brevis and extensor pollicis longus muscles: imaging of cadavers and patients.

AJR Am J Roentgenol. 2007 Nov;189(5):1190-7

Latest myopathy articles Authors: Cvitanic OA, Henzie GM, Adham M

OBJECTIVE: The purpose of this study was to examine the anatomic features and imaging appearance of the intersection of the extensor pollicis longus (EPL) tendon with the extensor carpi radialis brevis (ECRB) and longus (ECRL) tendons in cadavers and patients. MATERIALS AND METHODS: MR and CT tenography were performed on 10 cadaveric wrists, and tenosynovial endoscopy and dissection of the EPL tendon sheath were performed on five additional cadaveric wrists. A computer-assisted search of dictated MRI reports identified 12 wrists of patients with simultaneous EPL tenosynovitis and ECRB and ECRL tenosynovitis. The relation between EPL tenosynovitis and ECRB and ECRL tenosynovitis was studied with chi-square testing. Interobserver agreement was calculated with kappa statistics. RESULTS: MR and CT tenography revealed a communicating foramen between the sheaths of the ECRB and EPL tendons in all 10 cadavers studied. Endoscopic evaluation and dissection of five additional cadaveric wrists further confirmed the presence of foramina. In the patients, the presence of EPL tenosynovitis and that of ECRB and ECRL tenosynovitis had strong correlation (p < 0.001). The incidence of simultaneous EPL tenosynovitis and ECRB and ECRL tenosynovitis in our referral population of wrist MRI examinations was 0.8% (12/1,540). CONCLUSION: A normal foramen exists between the sheaths of the EPL and ECRB tendons where they intersect in the wrist. Such foramina allow synovial fluid to communicate between the tendon sheaths and probably account for the high prevalence of tenosynovitis in more than one tendon on clinical MRI studies.

Latest myopathy articles PMID: 17954660 [PubMed - indexed for MEDLINE]Abdominal compartment syndrome. Related Articles

Abdominal compartment syndrome.

AJR Am J Roentgenol. 2007 Nov;189(5):1037-43

Latest myopathy articles Authors: Patel A, Lall CG, Jennings SG, Sandrasegaran K

OBJECTIVE: The purpose of this article is to discuss the pathogenesis, clinical features, radiologic findings, and treatment of abdominal compartment syndrome, which is defined as an acute elevation of the intraabdominal pressure with organ dysfunction. CONCLUSION: Abdominal compartment syndrome is not well reported in the radiology literature. In this review, we discuss a range of CT signs such as elevated diaphragm, collapsed inferior vena cava, bowel wall thickening, bowel mucosal hyperenhancement, hemoperitoneum, and increasing abdominal girth, which, in combination, may allow the radiologist to raise the possibility of abdominal compartment syndrome.

Latest myopathy articles PMID: 17954637 [PubMed - indexed for MEDLINE]Osteoid osteoma of the radial styloid mimicking de quervain tenosynovitis. Related Articles

Osteoid osteoma of the radial styloid mimicking de quervain tenosynovitis.

South Med J. 2007 Oct;100(10):1045-7

Latest myopathy articles Authors: Chloros GD, Themistocleous GS, Papagelopoulos PJ, Khaldi L, Efstathopoulos DG, Soucacos PN

A very unusual location of osteoid osteoma arising in the radial styloid is presented, which strongly mimicked de Quervain tenosynovitis, thereby resulting in the patient undergoing an additional unnecessary operation and a substantial delay of more than 2 years in diagnosis.

Latest myopathy articles PMID: 17943054 [PubMed - indexed for MEDLINE]Combined ventral and dorsal rhizotomies for dystonic and spastic extremities. Report of six cases. Related Articles

Combined ventral and dorsal rhizotomies for dystonic and spastic extremities. Report of six cases.

J Neurosurg. 2007 Oct;107(4 Suppl):324-7

Latest myopathy articles Authors: Albright AL, Tyler-Kabara EC

Six children with secondary dystonia as the primary movement disorder in their extremities but with coexisting spasticity were treated with combined ventral and dorsal rhizotomies, resulting in long-term improvement in their dystonia and no adverse side effects. Combined rhizotomies can be considered in the treatment of children who are not candidates for intrathecal baclofen, particularly severely disabled children who have dystonia and spasticity in their extremities, but hypotonia in their neck and trunk.

Latest myopathy articles PMID: 17941499 [PubMed - indexed for MEDLINE]Knee buckling: prevalence, risk factors, and associated limitations in function. Related Articles

Knee buckling: prevalence, risk factors, and associated limitations in function.

Ann Intern Med. 2007 Oct 16;147(8):534-40

Latest myopathy articles Authors: Felson DT, Niu J, McClennan C, Sack B, Aliabadi P, Hunter DJ, Guermazi A, Englund M

BACKGROUND: Knee buckling is common in persons with advanced knee osteoarthritis and after orthopedic procedures. Its prevalence in the community is unknown. OBJECTIVE: To examine the prevalence of knee buckling in the community, its associated risk factors, and its relation to functional limitation. DESIGN: Cross-sectional, population-based study. SETTING: The Framingham Osteoarthritis Study. PARTICIPANTS: 2351 men and women age 36 to 94 years (median, 63.5 years). MEASUREMENTS: Participants were asked whether they had experienced knee buckling or "giving way" and whether it led to falling. They were also asked about knee pain and limitations in function by using the Short Form-12 and Western Ontario and McMaster Universities Osteoarthritis Index, had isometric tests of quadriceps strength, and underwent weight-bearing radiography and magnetic resonance imaging of the knee. Radiographs were scored for osteoarthritis by using the Kellgren-Lawrence scale, and magnetic resonance images were read for anterior cruciate ligament tears. The relationship of buckling to functional limitation was examined by using logistic regression that adjusted for age, sex, body mass index, and knee pain severity. RESULTS: Two hundred seventy-eight participants (11.8%) experienced at least 1 episode of knee buckling within the past 3 months; of these persons, 217 (78.1%) experienced more than 1 episode and 35 (12.6%) fell during an episode. Buckling was independently associated with the presence of knee pain and with quadriceps weakness. Over half of those with buckling had no osteoarthritis on radiography. Persons with knee buckling had worse physical function than those without buckling, even after adjustment for severity of knee pain and weakness. For example, 46.9% of participants with buckling and 21.7% of those without buckling reported limitations in their work (adjusted odds ratio, 2.0 [95% CI, 1.5 to 2.7]). LIMITATION: Causal inferences are limited because of the study's cross-sectional design. CONCLUSION: In adults, knee buckling is common and is associated with functional loss.

Latest myopathy articles PMID: 17938391 [PubMed - indexed for MEDLINE]Summaries for patients. Knee buckling in older adults.

Summaries for patients. Knee buckling in older adults.

Ann Intern Med. 2007 Oct 16;147(8):I41

Latest myopathy articles Authors:

Latest myopathy articles PMID: 17938387 [PubMed - indexed for MEDLINE]Infusion of intrathecal baclofen for acute withdrawal. Technical note. Related Articles

Infusion of intrathecal baclofen for acute withdrawal. Technical note.

J Neurosurg. 2007 Oct;107(4):878-80

Latest myopathy articles Authors: Duhon BS, MacDonald JD

Acute baclofen withdrawal syndrome is a life-threatening situation that demands early recognition and urgent treatment. The current therapy of choice for this syndrome is administration of intravenous benzodiazepines, propofol, and chemical paralytic drugs until the intrathecal system can be restored. The authors present a novel technique for administering baclofen intrathecally using a lumbar drain and a standard patient-controlled analgesia pump (in continuous infusion mode). In one case, this method was used to wean the patient from high-dose intrathecal baclofen treatment. In a second case, this method was used as a temporizing measure until the indwelling pump system could be repaired. In both cases, the patients recovered to their neurological baseline level, and lasting consequences of serious withdrawal were avoided.

Latest myopathy articles PMID: 17937239 [PubMed - indexed for MEDLINE]Regional anaesthesia in a patient with centronuclear (myotubular) myopathy. Related Articles

Regional anaesthesia in a patient with centronuclear (myotubular) myopathy.

Anaesthesia. 2007 Nov;62(11):1190

Latest myopathy articles Authors: Ranganathan M, Mendonca C

Latest myopathy articles PMID: 17924914 [PubMed - indexed for MEDLINE]Continuous spectrum of pharyngeal-cervical-brachial variant of Guillain-Barré syndrome. Related Articles

Continuous spectrum of pharyngeal-cervical-brachial variant of Guillain-Barré syndrome.

Arch Neurol. 2007 Oct;64(10):1519-23

Latest myopathy articles Authors: Nagashima T, Koga M, Odaka M, Hirata K, Yuki N

BACKGROUND: Pharyngeal-cervical-brachial weakness (PCB) is considered a variant of Guillain-Barré syndrome (GBS). Because of its rarity, there have been no studies of large numbers of patients with PCB. OBJECTIVE: To clarify the nosological classification of PCB. DESIGN: Retrospective study. SETTING: Academic research. Patients Medical records were reviewed of patients who manifested progressive weakness of the pharynx, neck, and upper limbs within 4 weeks of initial onset. MAIN OUTCOME MEASURES: Clinical features were analyzed, and antecedent infections and antiganglioside antibodies were investigated. RESULTS: Diagnoses for 100 patients were "pure PCB" (n = 13), PCB with preserved muscle stretch reflexes (n = 8), GBS overlap (n = 48), Fisher syndrome overlap (n = 26), and Bickerstaff brainstem encephalitis overlap (n = 5). Serological test results showed that 31.0% of antecedent infections in PCB were caused by Campylobacter jejuni. Of the antiganglioside antibodies tested, anti-GT1a IgG antibodies were positive in 51.0% of the patients. Anti-GQ1b IgG antibodies (a serological marker of Fisher syndrome and Bickerstaff brainstem encephalitis) were positive in 39.0%. The IgG antibodies to GM1, GM1b, GD1a, or GalNAc-GD1a (serological markers of an axonal GBS subtype) were positive in 27.0%. CONCLUSION: This large study identified the clinical profiles of PCB. Clinical overlapping, frequent C jejuni infection, and common antiganglioside antibodies present in PCB, GBS, Fisher syndrome, and Bickerstaff brainstem encephalitis provide conclusive evidence that PCB and these conditions form a continuous spectrum.

Latest myopathy articles PMID: 17923636 [PubMed - indexed for MEDLINE]Teaching NeuroImage: the L5 spinal cord segment. Related Articles

Teaching NeuroImage: the L5 spinal cord segment.

Neurology. 2007 Oct 9;69(15):E15

Latest myopathy articles Authors: Katirji B

Latest myopathy articles PMID: 17923607 [PubMed - indexed for MEDLINE]Myopathy, statins, and vitamin D deficiency. Related Articles

Myopathy, statins, and vitamin D deficiency.

Am J Cardiol. 2007 Oct 15;100(8):1328

Latest myopathy articles Authors: Goldstein MR

Latest myopathy articles PMID: 17920382 [PubMed - indexed for MEDLINE]Current understanding of tendinopathies and treatment options. Related Articles

Current understanding of tendinopathies and treatment options.

Am Fam Physician. 2007 Sep 15;76(6):773-4

Latest myopathy articles Authors: Jaworski CA

Latest myopathy articles PMID: 17910290 [PubMed - indexed for MEDLINE]Disease progression in Hutchinson-Gilford progeria syndrome: impact on growth and development. Related Articles

Disease progression in Hutchinson-Gilford progeria syndrome: impact on growth and development.

Pediatrics. 2007 Oct;120(4):824-33

Latest myopathy articles Authors: Gordon LB, McCarten KM, Giobbie-Hurder A, Machan JT, Campbell SE, Berns SD, Kieran MW

OBJECTIVES: Hutchinson-Gilford progeria syndrome is a rare and uniformly fatal segmental "premature aging" disease that affects a variety of organ systems. We sought to more clearly define the bone and weight abnormalities in patients with progeria as potential outcome parameters for prospective clinical trials. PATIENTS AND METHODS: We collected and analyzed longitudinal medical information, both retrospectively and prospectively, from a total of 41 children with Hutchinson-Gilford progeria syndrome spanning 14 countries, from the Progeria Research Foundation Medical and Research Database at the Brown University Center for Gerontology. RESULTS: In addition to a number of previously well-defined phenotypic findings in children with progeria, this study identified abnormalities in the eruption of secondary incisors lingually and palatally in the mandible and maxilla, respectively. Although bony structures appeared normal in early infancy, clavicular resorption, coxa valga, avascular necrosis of the femoral head, modeling abnormalities of long bones with slender diaphyses, flared metaphyses, and overgrown epiphyses developed. Long bones showed normal cortical thickness centrally and progressive focal demineralization peripherally. The most striking finding identified in the retrospective data set of 35 children was an average weight increase of only 0.44 kg/year, beginning at approximately 24 months of age and persisting through life, with remarkable intrapatient linearity. This rate is >2 SD below normal weight gain for any corresponding age and sharply contrasts with the parabolic growth pattern for normal age- and gender-matched children. This finding was also confirmed prospectively. CONCLUSIONS: Our analysis shows evidence of a newly identified abnormal growth pattern for children with Hutchinson-Gilford progeria syndrome. The skeletal and dental findings are suggestive of a developmental dysplasia rather than a classical aging process. The presence of decreased and linear weight gain, maintained in all of the patients after the age of 2 years, provides the ideal parameter on which altered disease status can be assessed in clinical trials.

Latest myopathy articles PMID: 17908770 [PubMed - indexed for MEDLINE]Development of a French isometric strength normative database for adults using quantitative muscle testing. Related Articles

Development of a French isometric strength normative database for adults using quantitative muscle testing.

Arch Phys Med Rehabil. 2007 Oct;88(10):1289-97

Latest myopathy articles Authors: Hogrel JY, Payan CA, Ollivier G, Tanant V, Attarian S, Couillandre A, Dupeyron A, Lacomblez L, Doppler V, Meininger V, Tranchant C, Pouget J, Desnuelle C

OBJECTIVE: To establish a normative database for isometric strength measured by quantitative muscle testing (QMT) for a French adult population. DESIGN: Measurement of maximal voluntary isometric contraction. SETTING: Four clinical centers involved in neuromuscular disorders. PARTICIPANTS: A total of 315 healthy adults (147 men, 168 women) ages 20 to 80 years. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURE: Isometric torque values of 14 muscle functions (13 bilaterally and neck). RESULTS: This study led to the development of a French isometric strength normative database for adults measured by QMT. For each muscle function, predictive regression models using age, sex, and weight are proposed. Some methodologic issues concerning strength measurement are discussed. CONCLUSIONS: This database can be used to compute relative deficits in muscle strength for 27 muscle functions and also to estimate composite scores for follow-up of patients either during the natural history of their disease or during a therapeutic trial.

Latest myopathy articles PMID: 17908571 [PubMed - indexed for MEDLINE]Predictability of the clinical course of juvenile dermatomyositis based on initial muscle biopsy: a retrospective study of 72 patients. Related Articles

Predictability of the clinical course of juvenile dermatomyositis based on initial muscle biopsy: a retrospective study of 72 patients.

Arthritis Rheum. 2007 Oct 15;57(7):1183-91

Latest myopathy articles Authors: Miles L, Bove KE, Lovell D, Wargula JC, Bukulmez H, Shao M, Salisbury S, Bean JA

OBJECTIVE: Except when the diagnosis of juvenile dermatomyositis (DM) is in doubt, a case has not been made for routine muscle biopsy (MB). We sought to determine whether MB findings prior to systemic therapy have prognostic value. METHODS: We reviewed the hospital records and slides prepared from the initial open MB of 72 patients treated at one center between 1977 and 2002 and followed for a minimum of 2 years. None of the patients had received a course of systemic corticosteroid therapy at the time of MB. Our approach to MB evaluation was based on recent discussions with muscle pathology experts to develop criteria for assessing inflammation, vasculopathy, myofiber atrophy, regeneration, acute and chronic myopathic change, and stromal changes. Using simple and multivariate logistic regression, we tested each MB parameter for ability to predict outcome using 2 published classification systems. RESULTS: Extensive active myopathic changes (excluding regeneration) and central nuclei without basophilia predicted chronic juvenile DM. Severe arteropathic change, positive arterial direct immunofluorescence, obvious foci of severe capillary loss/endomysial fibrosis, and muscle infarcts predicted chronic juvenile DM, particularly with ulceration. Other MB parameters, regardless of severity, were not significant predictors of chronic juvenile DM versus limited disease. CONCLUSION: A scoring system for evaluating pretreatment MB in juvenile DM that focuses on extent of necrotizing myopathy, severity of vasculopathy, and features of established chronicity such as central nucleation of nonbasophilic myofibers may provide a basis for stratification of therapeutic regimens according to risk for chronic disease. The validity of our findings should be prospectively tested.

Latest myopathy articles PMID: 17907236 [PubMed - in process]Prospective evaluation of vacuum-assisted closure in abdominal compartment syndrome and severe abdominal sepsis. Related Articles

Prospective evaluation of vacuum-assisted closure in abdominal compartment syndrome and severe abdominal sepsis.

J Am Coll Surg. 2007 Oct;205(4):586-92

Latest myopathy articles Authors: Perez D, Wildi S, Demartines N, Bramkamp M, Koehler C, Clavien PA

BACKGROUND: Open abdomen treatment because of severe abdominal sepsis and abdominal compartment syndrome remains a difficult task. Different surgical techniques are available and are often used according to the surgeon's personal experience. Recently, the abdominal vacuum-assisted closure (VAC) system has been introduced, providing a new possibility to treat an open abdomen. In this study, we evaluate the role of this treatment option. STUDY DESIGN: This prospective observational cohort study includes 37 consecutive patients who were temporarily treated with VAC for severe abdominal sepsis or abdominal compartment syndrome, or both. Patients with abdominal trauma were excluded from the study. Thirty-seven patients undergoing major elective laparotomy and primary abdominal closure served as control group. Primary end points were fascial closure rate, physicoemotional recovery, and appearance outcomes 1 year after closure. Secondary end points included mortality, duration of open abdomen, length of ICU stay, and hospitalization time. RESULTS: Abdomens were left open for 23 days (range 3 to 122 days) with 3.8 dressing changes (range 1 to 22) per patient. Abdominal closure was achieved in 70% (n = 26), with no marked relation to duration of open abdomen treatment (p > 0.05). After 3 months, patients with VAC treatment recovered to a physical and mental health status similar to patients in the control group (p > 0.05). This status remained stable until the end of the study. Aesthetic outcomes (according to the Vancouver Scar Scale) were considerably poorer in the VAC group compared with controls (p < 0.01). CONCLUSIONS: Treatment of laparostomy with VAC for abdominal sepsis and abdominal compartment syndrome results in a high rate of successful abdominal closure. In addition, patients recover more rapidly, although hypertrophic scars might interfere with body perception. We recommend abdominal VAC system as first option if open abdomen treatment is indicated.

Latest myopathy articles PMID: 17903734 [PubMed - indexed for MEDLINE]Adult coeliac disease: Rheumatic presentations are common. Related Articles

Adult coeliac disease: Rheumatic presentations are common.

BMJ. 2007 Sep 29;335(7621):627

Latest myopathy articles Authors: Hepburn AL

Latest myopathy articles PMID: 17901475 [PubMed - indexed for MEDLINE]A prefabricated, tissue-engineered Integra free flap. Related Articles

A prefabricated, tissue-engineered Integra free flap.

Plast Reconstr Surg. 2007 Oct;120(5):1322-5

Latest myopathy articles Authors: Houle JM, Neumeister MW

Latest myopathy articles PMID: 17898607 [PubMed - indexed for MEDLINE]Does fascia lata repair facilitate closure and does it affect compartment pressures of the anterolateral thigh flap donor site? Related Articles

Does fascia lata repair facilitate closure and does it affect compartment pressures of the anterolateral thigh flap donor site?

Plast Reconstr Surg. 2007 Oct;120(5):1300-4

Latest myopathy articles Authors: Rodriguez ED, Bluebond-Langner R, Park J, You X, Rosson G, Singh N

Latest myopathy articles PMID: 17898603 [PubMed - indexed for MEDLINE]Postoperative hyperthermia, rhabdomyolysis, critical temperature, and death in a former premature infant after his ninth general anesthetic. Related Articles

Postoperative hyperthermia, rhabdomyolysis, critical temperature, and death in a former premature infant after his ninth general anesthetic.

Anesth Analg. 2007 Oct;105(4):977-80, table of contents

Latest myopathy articles Authors: Phadke A, Broadman LM, Brandom BW, Ozolek J, Davis PJ

An 8-mo-old infant born at 24-wk of gestation died unexpectedly 12 h after his ninth uneventful general anesthetic. Preoperatively, he required low-flow nasal oxygen due to bronchopulmonary dysplasia, chronic diuretic therapy, and IV alimentation. As planned preoperatively, the infant remained tracheally intubated after his elective surgery and went to the Neonatal Intensive Care Unit in stable condition. However, over the next 6 h, he developed fever. The diagnosis of postoperative sepsis was considered. One hour before his death his temperature reached 43 degrees C. Autopsy documented Duchenne's muscular dystrophy and renal tubules containing myoglobin.

Latest myopathy articles PMID: 17898376 [PubMed - indexed for MEDLINE]Studies point way to new therapeutic prospects for muscular dystrophy. Related Articles

Studies point way to new therapeutic prospects for muscular dystrophy.

JAMA. 2007 Sep 26;298(12):1385-6

Latest myopathy articles Authors: Kuehn BM

Latest myopathy articles PMID: 17895449 [PubMed - indexed for MEDLINE]Pyomyositis secondary to chickenpox. Related Articles

Pyomyositis secondary to chickenpox.

Arch Dis Child. 2007 Oct;92(10):871

Latest myopathy articles Authors: Rastogi D, Thakur A

Latest myopathy articles PMID: 17895335 [PubMed - indexed for MEDLINE]Successful use of succinylcholine for cesarean delivery in a patient with postpolio syndrome. Related Articles

Successful use of succinylcholine for cesarean delivery in a patient with postpolio syndrome.

Anesthesiology. 2007 Oct;107(4):680-1

Latest myopathy articles Authors: Wernet A, Bougeois B, Merckx P, Paugam-Burtz C, Mantz J

Latest myopathy articles PMID: 17893480 [PubMed - indexed for MEDLINE]The Cutaneous Assessment Tool: development and reliability in juvenile idiopathic inflammatory myopathy. Related Articles

The Cutaneous Assessment Tool: development and reliability in juvenile idiopathic inflammatory myopathy.

Rheumatology (Oxford). 2007 Oct;46(10):1606-11

Latest myopathy articles Authors: Huber AM, Dugan EM, Lachenbruch PA, Feldman BM, Perez MD, Zemel LS, Lindsley CB, Rennebohm RM, Wallace CA, Passo MH, Reed AM, Bowyer SL, Ballinger SH, Miller FW, Rider LG,

OBJECTIVES: Clinical care and therapeutic trials in idiopathic inflammatory myopathies (IIM) require accurate and consistent assessment of cutaneous involvement. The Cutaneous Assessment Tool (CAT) was designed to measure skin activity and damage in IIM. We describe the development and inter-rater reliability of the CAT, and the frequency of lesions endorsed in a large population of juvenile IIM patients. METHODS: The CAT includes 10 activity, 4 damage and 7 combined lesions. Thirty-two photographic slides depicting IIM skin lesions were assessed by 11 raters. One hundred and twenty-three children were assessed by 11 paediatric rheumatologists at 10 centres. Inter-rater reliability was assessed using simple agreements and intra-class correlation coefficients (ICC). RESULTS: Simple agreements in recognizing lesions as present or absent were generally high (0.5-1.0). ICCs for CAT lesions were moderate (0.4-0.75) in both slides and real patients. ICCs for the CAT activity and damage scores were 0.71 and 0.81, respectively. CAT activity scores ranged from 0 to 44 (median 7, potential range 0-96) and CAT damage scores ranged from 0 to 13 (median 1, potential range 0-22). The most common cutaneous lesions endorsed were periungual capillary loop changes (63%), Gottron's papules/sign (53%), heliotrope rash (49%) and malar/facial erythema (49%). CONCLUSIONS: Total CAT activity and damage scores have moderate to good reliability. Assessors generally agree on the presence of a variety of cutaneous lesions. The CAT is a promising, semi-quantitative tool to comprehensively assess skin disease activity and damage in IIM.

Latest myopathy articles PMID: 17890275 [PubMed - in process]Sonographically guided intratendinous injection of hyperosmolar dextrose to treat chronic tendinosis of the Achilles tendon: a pilot study. Related Articles

Sonographically guided intratendinous injection of hyperosmolar dextrose to treat chronic tendinosis of the Achilles tendon: a pilot study.

AJR Am J Roentgenol. 2007 Oct;189(4):W215-20

Latest myopathy articles Authors: Maxwell NJ, Ryan MB, Taunton JE, Gillies JH, Wong AD

OBJECTIVE: Chronic tendinosis of the Achilles tendon is a common overuse injury that is difficult to manage. We report on a new injection treatment for this condition. SUBJECTS AND METHODS: Thirty-six consecutive patients (25 men, 11 women; mean age, 52.6 years) with symptoms for more than 3 months (mean, 28.6 months) underwent sonography-guided intratendinous injection of 25% hyperosmolar dextrose every 6 weeks until symptoms resolved or no improvement was shown. At baseline and before each injection, clinical assessment was performed using a visual analogue scale (VAS) for pain at rest (VAS1), pain during normal daily activity (VAS2), and pain during or after sporting or other physical activity (VAS3). Sonographic parameters including tendon thickness, echogenicity, and neovascularity were also recorded. Posttreatment clinical follow-up was performed via telephone interview. RESULTS: Thirty-three tendons in 32 patients were successfully treated. The mean number of treatment sessions was 4.0 (range, 2-11). There was a mean percentage reduction for VAS1 of 88.2% (p < 0.0001), for VAS2 of 84.0% (p < 0.0001), and for VAS3 of 78.1% (p < 0.0001). The mean tendon thickness decreased from 11.7 to 11.1 mm (p < 0.007). The number of tendons with anechoic clefts or foci was reduced by 78%. Echogenicity improved in six tendons (18%) but was unchanged in 27 tendons (82%). Neovascularity was unchanged in 11 tendons (33%) but decreased in 18 tendons (55%); no neovascularity was present before or after treatment in the four remaining tendons. Follow-up telephone interviews of the 30 available patients a mean of 12 months after treatment revealed that 20 patients were still asymptomatic, nine patients had only mild symptoms, and one patient had moderate symptoms. CONCLUSION: Intratendinous injections of hyperosmolar dextrose yielded a good clinical response--that is, a significant reduction in pain at rest and during tendon-loading activities--in patients with chronic tendinosis of the Achilles tendon.

Latest myopathy articles PMID: 17885034 [PubMed - indexed for MEDLINE]Calcium pyrophosphate deposition of the temporomandibular joint with massive bony erosion. Related Articles

Calcium pyrophosphate deposition of the temporomandibular joint with massive bony erosion.

J Oral Maxillofac Surg. 2007 Oct;65(10):2086-9

Latest myopathy articles Authors: Nicholas BD, Smith JL, Kellman RM

Latest myopathy articles PMID: 17884544 [PubMed - indexed for MEDLINE]Synovial chondromatosis of the temporomandibular joint with cranial extension: a case report and literature review. Related Articles

Synovial chondromatosis of the temporomandibular joint with cranial extension: a case report and literature review.

J Oral Maxillofac Surg. 2007 Oct;65(10):2073-80

Latest myopathy articles Authors: Lieger O, Zix J, Stauffer-Brauch EJ, Iizuka T

Latest myopathy articles PMID: 17884541 [PubMed - indexed for MEDLINE]Childhood temporomandibular joint fracture leading to obstructive sleep apnea syndrome: a case report. Related Articles

Childhood temporomandibular joint fracture leading to obstructive sleep apnea syndrome: a case report.

J Oral Maxillofac Surg. 2007 Oct;65(10):2069-71; discussion 2072

Latest myopathy articles Authors: Paoli JR, Dekeister C, Mayorca A

Latest myopathy articles PMID: 17884539 [PubMed - indexed for MEDLINE]Walker repair of the temporomandibular joint: a retrospective evaluation of 117 patients. Related Articles

Walker repair of the temporomandibular joint: a retrospective evaluation of 117 patients.

J Oral Maxillofac Surg. 2007 Oct;65(10):1958-62

Latest myopathy articles Authors: Griffitts TM, Collins CP, Collins PC, Beirne OR

PURPOSE: This study evaluated the outcome of a high condylar shave with meniscal repositioning (Walker repair) in patients with internal derangement of the temporomandibular joint (TMJ). Changes in incisal opening, pain level, chewing ability, and preoperative TMJ symptoms (tinnitus, vertigo, and crepitus) were evaluated. PATIENTS AND METHODS: A retrospective evaluation of 202 patients undergoing the Walker repair was completed using a questionnaire. A total of 117 patients responded to the questionnaire. Preoperative and postoperative examination findings, subjective questionnaire results, and panorex radiographs were analyzed. RESULTS: The Walker repair resulted in a statistically significant (P < .001) decrease in pain by an average of 5.6 points on a scale of 0 to 10. The procedure also improved incisal opening by an average of 5.8 mm (P < .001). Improvements of 69% in tinnitus, 72% in vertigo, and 66% in crepitus were documented. Patients evaluated their motion, diet, comfort, and overall improvement; each area was rated as good or excellent by more than 90% of patients. The overall success rate for the Walker repair was 86%. CONCLUSIONS: The Walker repair is an effective surgical treatment for internal derangement that significantly decreases pain level and increases incisal opening. No statistically significant difference in the success rate between unilateral and bilateral procedures was noted.

Latest myopathy articles PMID: 17884522 [PubMed - indexed for MEDLINE]Superoxide dismutase activity in synovial fluids in patients with temporomandibular joint internal derangement. Related Articles

Superoxide dismutase activity in synovial fluids in patients with temporomandibular joint internal derangement.

J Oral Maxillofac Surg. 2007 Oct;65(10):1940-3

Latest myopathy articles Authors: Güven O, Tekin US, Durak I, Keller EE, Hatipoglu M

PURPOSE: To measure the activity of superoxide dismutase (SOD) in the synovial fluid of patients with temporomandibular joint internal derangement and to show the relationship between the activity of SOD and the severity of the disease. MATERIALS AND METHODS: Twenty patients with internal derangement were classified according to Wilkes by clinical radiological examinations. SOD activity was measured by the method based on nitrobluetetrazolium reduction rate. RESULTS: The activity of SOD seemed to be progressively decreased as the stage of the disease increased. CONCLUSION: The reduction of SOD activity observed may result from insufficient scavenging capacity of free radicals. Further investigation and longitudinal studies are required to determine the role of antioxidants that scavenge the free radicals in temporomandibular joint disorders.

Latest myopathy articles PMID: 17884519 [PubMed - indexed for MEDLINE]Experimental animal models of muscle wasting in intensive care unit patients. Related Articles

Experimental animal models of muscle wasting in intensive care unit patients.

Crit Care Med. 2007 Sep;35(9 Suppl):S484-7

Latest myopathy articles Authors: Larsson L

The muscle wasting and loss of muscle function associated with critical illness and intensive care have significant negative consequences for weaning from the respirator, duration of hospital stay, and quality of life for long periods after hospital discharge. There is, accordingly, a significant demand for focused research aiming at improving our understanding of the mechanisms underlying the impaired neuromuscular function in intensive care unit (ICU) patients. However, the study of generalized muscle weakness in critically ill ICU patients is further complicated by the coexistence of multiple independent factors, such as different primary diseases, large variability in pharmacologic treatment, collection of muscle samples several weeks after admission to the ICU, and exposure to causative agents. This has led to the design of specific animal models mimicking ICU conditions. These models have often been used to study the mechanisms underlying the paralysis and muscle wasting associated with acute quadriplegic myopathy in ICU patients. This short review aims at presenting existing and recently introduced experimental animal models mimicking the conditions in the ICU (i.e., models designed to determine the mechanisms underlying the muscle wasting associated with ICU treatment).

Latest myopathy articles PMID: 17713397 [PubMed - indexed for MEDLINE]Pregabalin (Lyrica) for fibromyalgia. Related Articles

Pregabalin (Lyrica) for fibromyalgia.

Med Lett Drugs Ther. 2007 Sep 24;49(1270):77-8

Latest myopathy articles Authors:

Latest myopathy articles PMID: 17878888 [PubMed - indexed for MEDLINE]Autoantibodies in canine masticatory muscle myositis recognize a novel myosin binding protein-C family member. Related Articles

Autoantibodies in canine masticatory muscle myositis recognize a novel myosin binding protein-C family member.

J Immunol. 2007 Oct 1;179(7):4939-44

Latest myopathy articles Authors: Wu X, Li ZF, Brooks R, Komives EA, Torpey JW, Engvall E, Gonias SL, Shelton GD

Inflammatory myopathies are a group of autoimmune diseases that affect muscles. In humans, the most common inflammatory myopathies are polymyositis, dermatomyositis, and inclusion body myositis. Autoantibodies may be found in humans with inflammatory myopathies, and these play an important role in diagnosis and disease classification. However, these Abs are typically not muscle specific. Spontaneously occurring canine inflammatory myopathies may be good parallel disorders and provide insights into human myositis. In dogs with inflammatory myopathy, muscle-specific autoantibodies have been found, especially in masticatory muscle myositis. We have identified the major Ag recognized by the autoantibodies in canine masticatory muscle myositis. This Ag is a novel member of the myosin binding protein-C family, which we call masticatory myosin binding protein-C (mMyBP-C). mMyBP-C is localized not only within the masticatory muscle fibers, but also at or near their cell surface, perhaps making it accessible as an immunogen. The gene for mMyBP-C also exists in humans, and mMyBP-C could potentially play a role in certain human inflammatory myopathies. Understanding the role of mMyBP-C in this canine inflammatory myopathy may advance our knowledge of mechanisms of autoimmune inflammatory muscle diseases, not only in dogs, but also in humans.

Latest myopathy articles PMID: 17878394 [PubMed - indexed for MEDLINE]Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Related Articles

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

Brain. 2007 Oct;130(Pt 10):2725-35

Latest myopathy articles Authors: Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F

Muscular dystrophies with reduced glycosylation of alpha-dystroglycan (alpha-DG), commonly referred to as dystroglycanopathies, are a heterogeneous group of autosomal recessive conditions which include a wide spectrum of clinical severity. Reported phenotypes range from severe congenital onset Walker-Warburg syndrome (WWS) with severe structural brain and eye involvement, to relatively mild adult onset limb girdle muscular dystrophy (LGMD). Specific clinical syndromes were originally described in association with mutations in any one of six demonstrated or putative glycosyltransferases. Work performed on patients with mutations in the FKRP gene has identified that the spectrum of phenotypes due to mutations in this gene is much wider than originally assumed. To further define the mutation frequency and phenotypes associated with mutations in the other five genes, we studied a large cohort of patients with evidence of a dystroglycanopathy. Exclusion of mutations in FKRP was a prerequisite for participation in this study. Ninety-two probands were screened for mutations in POMT1, POMT2, POMGnT1, fukutin and LARGE. Homozygous and compound heterozygous mutations were detected in a total of 31 probands (34 individuals from 31 families); 37 different mutations were identified, of which 32 were novel. Mutations in POMT2 were the most prevalent in our cohort with nine cases, followed by POMT1 with eight cases, POMGnT1 with seven cases, fukutin with six cases and LARGE with only a single case. All patients with POMT1 and POMT2 mutations had evidence of either structural or functional central nervous system involvement including four patients with mental retardation and a LGMD phenotype. In contrast mutations in fukutin and POMGnT1 were detected in four patients with LGMD and no evidence of brain involvement. The majority of patients (six out of nine) with mutations in POMT2 had a Muscle-Eye-Brain (MEB)-like condition. In addition we identified a mutation in the gene LARGE in a patient with WWS. Our data expands the clinical phenotypes associated with POMT1, POMT2, POMGnT1, fukutin and LARGE mutations. Mutations in these five glycosyltransferase genes were detected in 34% of patients indicating that, after the exclusion of FKRP, the majority of patients with a dystroglycanopathy harbour mutations in novel genes.

Latest myopathy articles PMID: 17878207 [PubMed - indexed for MEDLINE]Clinical significance of thyroid disease in patients with inflammatory myopathy. Related Articles

Clinical significance of thyroid disease in patients with inflammatory myopathy.

Medicine (Baltimore). 2007 Sep;86(5):293-8

Latest myopathy articles Authors: Selva-O'Callaghan A, Redondo-Benito A, Trallero-Araguás E, Martínez-Gómez X, Palou E, Vilardell-Tarres M

We conducted the current study to determine the prevalence, incidence density, and clinical significance of thyroid disease in a series of 109 patients diagnosed with idiopathic inflammatory myopathy. We analyzed 109 patients diagnosed with idiopathic inflammatory myopathy during a 20-year period (1986-2006). Routine determination of thyroid profile, including hormone levels and antithyroid antibodies (antithyroid peroxidase and antithyroglobulin antibody systematically, and antithyroid-stimulating hormone receptor antibody when appropriate) was carried out at onset and at least once again during the follow-up period. Human leukocyte antigen (HLA) study was performed by polymerase chain reaction sequence-specific oligonucleotide typing. Six patients (5.5%) developed thyroid disease (hypo- or hyperthyroidism), with an incidence density of 8.7 new cases per 1000 person-years; 4 of the 6 cases were of autoimmune origin (3.6%). Thyroid dysfunction, whether autoimmune or not, was clearly related with onset or relapse of disease activity. Neoplastic disease was detected in 3 of 4 (75%) patients with autoimmune thyroid disease, a significantly higher frequency than was observed in the remaining patients in the series (12 of 103, 11.7%; p < 0.05; RR: 22.8; 95% confidence interval, 2.2-236.6). HLA DRB1*04 was found in 4 of the 6 patients with thyroid disease and inflammatory myopathy. Thyroid disorders are clinically relevant in patients with inflammatory myopathies. An association was observed between autoimmune thyroid disease and cancer. Thyroid assessment is strongly recommended in patients with idiopathic inflammatory myopathy and clinical relapse.

Latest myopathy articles PMID: 17873759 [PubMed - in process]Effects of unilateral repetitive transcranial magnetic stimulation of the motor cortex on chronic widespread pain in fibromyalgia. Related Articles

Effects of unilateral repetitive transcranial magnetic stimulation of the motor cortex on chronic widespread pain in fibromyalgia.

Brain. 2007 Oct;130(Pt 10):2661-70

Latest myopathy articles Authors: Passard A, Attal N, Benadhira R, Brasseur L, Saba G, Sichere P, Perrot S, Januel D, Bouhassira D

Non-invasive unilateral repetitive transcranial magnetic stimulation (rTMS) of the motor cortex induces analgesic effects in focal chronic pain syndromes, probably by modifying central pain modulatory systems. Neuroimaging studies have shown bilateral activation of a large number of structures, including some of those involved in pain processing, suggesting that such stimulation may induce generalized analgesic effects. The goal of this study was to assess the effects of unilateral rTMS of the motor cortex on chronic widespread pain in patients with fibromyalgia. Thirty patients with fibromyalgia syndrome (age: 52.6 +/- 7.9) were randomly assigned, in a double-blind fashion, to two groups, one receiving active rTMS (n = 15) and the other sham stimulation (n = 15), applied to the left primary motor cortex in 10 daily sessions. The primary outcome measure was self-reported average pain intensity over the last 24 h, measured at baseline, daily during the stimulation period and then 15, 30 and 60 days after the first stimulation. Other outcome measures included: sensory and affective pain scores for the McGill pain Questionnaire, quality of life (assessed with the pain interference items of the Brief Pain Inventory and the Fibromyalgia Impact Questionnaire), mood and anxiety (assessed with the Hamilton Depression Rating Scale, the Beck Depression Inventory and the Hospital Anxiety and Depression Scale). We also assessed the effects of rTMS on the pressure pain threshold at tender points ipsi- and contralateral to stimulation. Follow-up data were obtained for all the patients on days 15 and 30 and for 26 patients (13 in each treatment group) on day 60. Active rTMS significantly reduced pain and improved several aspects of quality of life (including fatigue, morning tiredness, general activity, walking and sleep) for up to 2 weeks after treatment had ended. The analgesic effects were observed from the fifth stimulation onwards and were not related to changes in mood or anxiety. The effects of rTMS were more long-lasting for affective than for sensory pain, suggesting differential effects on brain structures involved in pain perception. Only few minor and transient side effects were reported during the stimulation period. Our data indicate that unilateral rTMS of the motor cortex induces a long-lasting decrease in chronic widespread pain and may therefore constitute an effective alternative analgesic treatment for fibromyalgia.

Latest myopathy articles PMID: 17872930 [PubMed - indexed for MEDLINE]Effect on intraocular pressure of extraocular muscle surgery for thyroid-associated ophthalmopathy. Related Articles

Effect on intraocular pressure of extraocular muscle surgery for thyroid-associated ophthalmopathy.

Am J Ophthalmol. 2007 Nov;144(5):654-657

Latest myopathy articles Authors: Gomi CF, Yates B, Kikkawa DO, Levi L, Weinreb RN, Granet DB

PURPOSE: To study the effect of extraocular muscle surgery on intraocular pressure (IOP) in patients with thyroid-associated ophthalmopathy. DESIGN: Retrospective, observational case series. METHODS: The medical records of patients with restrictive myopathy secondary to thyroid-associated ophthalmopathy who underwent strabismus surgery from July 1, 1997 through July 31, 2003 were reviewed and analyzed retrospectively. Seventeen patients met the criteria and were included in this study. All patients were seen at the Thyroid Eye Center at the University of California, San Diego, a university-based tertiary referral center. The main outcome measure was IOP readings obtained before and after surgery in both primary gaze and upgaze. RESULTS: A statistically significant decrease in IOP in upgaze was noted after extraocular muscle recession. The mean IOP before surgery was 16.6 +/- 3.78 mm Hg in primary gaze and 23.2 +/- 7.27 mm Hg in upgaze. After strabismus surgery, the mean IOP after one month was 15.7 +/- 2.36 mm Hg (P = .215) in primary gaze and 18.9 +/- 2.96 mm Hg in upgaze (P = .001). CONCLUSIONS: Strabismus surgery resulted in a significant reduction in IOP in the early postoperative period in patients with restrictive myopathy secondary to thyroid-associated ophthalmopathy.

Latest myopathy articles PMID: 17870046 [PubMed - indexed for MEDLINE]NICE behaviour: ME guideline is unworkable. Related Articles

NICE behaviour: ME guideline is unworkable.

BMJ. 2007 Sep 15;335(7619):528

Latest myopathy articles Authors: Shepherd CB

Latest myopathy articles PMID: 17855294 [PubMed - indexed for MEDLINE]Late-onset intermediate syndrome due to organophosphate poisoning. Related Articles

Late-onset intermediate syndrome due to organophosphate poisoning.

Clin Toxicol (Phila). 2007 Sep;45(6):733-4

Latest myopathy articles Authors: Yardan T, Baydin A, Aygun D, Karatas AD, Deniz T, Doganay Z

Latest myopathy articles PMID: 17849254 [PubMed - indexed for MEDLINE]Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease. Related Articles

Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease.

Neurology. 2007 Sep 11;69(11):1152-9

Latest myopathy articles Authors: Luoma PT, Eerola J, Ahola S, Hakonen AH, Hellström O, Kivistö KT, Tienari PJ, Suomalainen A

OBJECTIVE: Dysfunction of mitochondrial DNA polymerase gamma (POLG) has been recently recognized as an important cause of inherited neurodegenerative diseases. We have reported dominant and recessive inheritance of parkinsonism, mitochondrial myopathy, and premature amenorrhea in five ethnically distinct families with POLG1 mutations. This prompted us to carry out a detailed analysis of the coding region and intron-exon boundaries of POLG1 in Finnish patients with idiopathic sporadic Parkinson disease (PD) and in nonparkinsonian controls. METHODS: The coding region of POLG1 was analyzed in 140 Finnish patients with PD and their 127 spouses as age- and ethnically matched controls. Further, we analyzed the intragenic CAG-repeat region of POLG1 in 126 additional patients with nonparkinsonian neurologic disorders and in 516 Finnish population controls. RESULTS: We found clustering of rare variants of the POLG1 CAG-repeat, encoding a polyglutamine tract, in Finnish patients with idiopathic PD as compared to their spouses (p = 0.003; OR 3.01, 95% CI 1.35 to 6.71), population controls (p = 0.001; OR 2.45, 95% CI 1.45 to 4.14), and patients with nonparkinsonian neurologic disorders (p = 0.05, OR 1.98, 95% CI 0.97 to 4.05). We found several amino acid substitutions, none of them associating with PD. These included a previously parkinsonism-associated POLG variant Y831C, found in one patient with PD, but also in five controls, suggesting that it is a neutral amino acid polymorphism. CONCLUSIONS: Our results suggest that POLG polyglutamine tract variants should be considered as a predisposing genetic factor in idiopathic sporadic Parkinson disease.

Latest myopathy articles PMID: 17846414 [PubMed - indexed for MEDLINE]Isolated CNS Whipple disease with a variant of oculofacial-skeletal myorhythmia (OFSM). Related Articles

Isolated CNS Whipple disease with a variant of oculofacial-skeletal myorhythmia (OFSM).

Neurology. 2007 Sep 11;69(11):E12

Latest myopathy articles Authors: de Andrade DC, Nogueira RC, Lucato LT, Marchiori PE, Machado LR, Teixeira MJ, Scaff M

Latest myopathy articles PMID: 17846404 [PubMed - indexed for MEDLINE]Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy. Related Articles

Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy.

Arch Neurol. 2007 Sep;64(9):1339-43

Latest myopathy articles Authors: Meulemans A, De Paepe B, De Bleecker J, Smet J, Lissens W, Van Coster R, De Meirleir L, Seneca S

BACKGROUND: Defects in the oxidative phosphorylation system can cause a broad spectrum of clinical symptoms ranging from an isolated myopathy to a multisystemic disorder. OBJECTIVE: To study and identify the underlying molecular defect in a patient with limb-girdle myopathy. DESIGN: Biochemical, histochemical, and immunocytochemical analyses were performed in combination with polymerase chain reaction-single-strand conformation polymorphism and restriction fragment length polymorphism-polymerase chain reaction techniques. SETTING: University hospital. PATIENT: A 48-year-old woman with limb-girdle myopathy. MAIN OUTCOME MEASURES: The pathogenic characteristics of the identified nucleotide alterations were defined using single-muscle fiber analysis. RESULTS: A complex III deficiency was detected using blue native-polyacrylamide gel electrophoresis, while immunocytochemical results showed a mosaic staining pattern for complexes I and IV. After molecular analyses, 2 novel heteroplasmic mitochondrial DNA (mtDNA) nucleotide aberrations, m.5888insA and m.14639A>G, were identified in muscle tissue. Single-muscle fiber analyses demonstrated that cytochrome c oxidase-deficient fibers, compared with cytochrome c oxidase-positive fibers, harbored statistically significantly higher levels of both mtDNA mutations (P < .001, t test). CONCLUSIONS: These results, together with previously defined canonical criteria determining the pathogenic characteristics of mtDNA mutations, suggest that both nucleotide changes are pathogenic mutations. To our knowledge, this is only the third report of the coexistence of 2 pathogenic mtDNA mutations present in different genes within individual skeletal muscle fibers of a patient.

Latest myopathy articles PMID: 17846276 [PubMed - indexed for MEDLINE]Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2). Related Articles

Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2).

Arch Neurol. 2007 Sep;64(9):1334-8

Latest myopathy articles Authors: Tajsharghi H, Ohlsson M, Lindberg C, Oldfors A

OBJECTIVE: To describe the clinical, morphologic, and genetic findings in a family in which one woman had nemaline myopathy, whereas her daughter showed features of cap disease. PATIENTS: A 66-year-old woman and her 35-year-old daughter had congenital, slowly progressive muscle weakness. They had weakness in both proximal and distal muscles and facial diplegia with bilateral ptosis, a long narrow face, a high arched palate, and micrognathia. RESULTS: Muscle biopsy specimens in the mother at age 57 years had shown nemaline myopathy, whereas a biopsy specimen at age 32 years had demonstrated no rods. Muscle biopsy specimens in the daughter at age 26 years had shown features of cap disease and no apparent nemaline rods. A missense mutation, Glu41Lys, in the beta-tropomyosin gene TPM2 was identified in both patients but was absent in their healthy relatives. CONCLUSIONS: The results indicate that mutations in TPM2 may cause nemaline myopathy as well as cap disease with a dominant mode of inheritance. These disorders may thus be phenotypic variants of the same genetic defect.

Latest myopathy articles PMID: 17846275 [PubMed - indexed for MEDLINE]

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