The effect of repeated muscle biopsy sampling on ATP and glycogen resynthesis following exercise in man

1996 ◽  
Vol 73 (1-2) ◽  
pp. 186-190 ◽  
Author(s):  
D. Constantin-Teodosiu ◽  
A. Casey ◽  
A. H. Short ◽  
E. Hultman ◽  
P. L. Greenhaff
1994 ◽  
Vol 87 (s1) ◽  
pp. 70-71
Author(s):  
D Constantin-Teodosiu ◽  
A Casey ◽  
AH Short ◽  
PL Greenhaff

PEDIATRICS ◽  
2016 ◽  
Vol 137 (Supplement 3) ◽  
pp. 583A-583A
Author(s):  
Mihir Thacker ◽  
Monica Payares Lizano ◽  
Brian Deignan ◽  
Corrine Link ◽  
Kenneth Rogers ◽  
...  

2014 ◽  
Vol 99 (791) ◽  
pp. 40-40
Author(s):  
Fernando Leiva-Cepas

1997 ◽  
Vol 38 (5) ◽  
pp. 903-906 ◽  
Author(s):  
Katsuyuki Nakanishi ◽  
S. Shimamoto ◽  
M. Kishi ◽  
T. Yoshioka ◽  
T. Ishida ◽  
...  

Neurology ◽  
2000 ◽  
Vol 55 (5) ◽  
pp. 636-643 ◽  
Author(s):  
M. P. Collins ◽  
J. R. Mendell ◽  
M. I. Periquet ◽  
Z. Sahenk ◽  
A. A. Amato ◽  
...  

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1848.1-1848
Author(s):  
T. Mori ◽  
N. Yokogawa ◽  
K. Shimada

Background:We previously reported the utility of open muscle biopsies in diagnosing vasculitis [1]. The number of open muscle biopsies performed at our department has increased to over 200. The purpose of the present study was to evaluate the diagnostic utility of vasculitis and the safety of the open muscle biopsies.Objectives:To clarify the diagnostic utility of vasculitis and the safety profile of the open muscle biopsy.Methods:We retrospectively examined all cases of open muscle biopsy performed between May 2012 and June 2018 in our department. The biopsy results, the presence or absence of adverse events, and blood test data at the time of the biopsy were extracted from the patients’ electronic medical records.Results:Between May 2012 and June 2018, 210 open muscle biopsies were performed, 120 of which were done for vasculitis diagnosis. Diagnostic histopathological findings were obtained in 42 of the 120 cases (35%). The definitive diagnosis in these cases was microscopic polyangiitis (30 cases), eosinophilic granulomatosis with polyangiitis (seven cases), granulomatosis with polyangiitis (one case), polyarteritis nodosa (three cases), and other vasculitis (one case). In 57 cases with myeloperoxidase-anti-neutrophil cytoplasmic antibody (MPO-ANCA) ≥ 10 U/ml, 31 cases (54.3%) showed histopathology of vasculitis. In six cases with protainase-3-ANCA (PR3-ANCA) ≥ 10 U/ml, histopathology of vasculitis was found in one case (16.7%).In all 210 open muscle biopsy cases, complications included minor wound dehiscence (11 cases) and small subcutaneous hematoma (six cases), which were able to be managed by local treatment. Albumin was significantly lower in the patients with wound dehiscence (mean 3.2 vs 2.7, p = 0.049)Serious complications included anaphylaxis due to local anesthesia (one case), compartment syndrome due to hematoma (one case), hematoma requiring surgical removal (one case), and arterial hemorrhage requiring surgical intervention (one case). The patients in the latter three hemorrhagic cases were receiving antiplatelet drugs.Conclusion:An open muscle biopsy is useful for diagnosing vasculitis, especially for MPO-ANCA-positive anca-associated vasculitis. Its safety profile is acceptable. Serious adverse events are rare, but the procedure should be performed carefully when patients are receiving antiplatelet drugs.References:[1]Nunokawa T. et al. The use of muscle biopsy in the diagnosis of systemic vasculitis affecting small to medium-sized vessels: A prospective evaluation in Japan. Scand. J. Rheumatol. 2016;45:210–214Disclosure of Interests:None declared


Author(s):  
Karen Baty ◽  
Maria E. Farrugia ◽  
Sila Hopton ◽  
Gavin Falkous ◽  
Andrew M. Schaefer ◽  
...  

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Natsumi Miyazaki ◽  
Takayuki Kobayashi ◽  
Takako Komiya ◽  
Toshio Okada ◽  
Yusuke Ishida ◽  
...  

Abstract Background Malignant hyperthermia (MH) is a rare genetic disease characterized by the development of very serious symptoms, and hence prompt and appropriate treatment is required. However, postoperative MH is very rare, representing only 1.9% of cases as reported in the North American Malignant Hyperthermia Registry (NAMHR). We report a rare case of a patient who developed sudden postoperative hyperthermia after mastectomy, which was definitively diagnosed as MH by the calcium-induced calcium release rate (CICR) measurement test. Case presentation A 61-year-old Japanese woman with a history of stroke was hospitalized for breast cancer surgery. General anesthesia was introduced by propofol, remifentanil, and rocuronium. After intubation, anesthesia was maintained using propofol and remifentanil, and mastectomy and muscle flap reconstruction surgery was performed and completed without any major problems. After confirming her spontaneous breathing, sugammadex was administered and she was extubated. Thereafter, systemic shivering and masseter spasm appeared, and a rapid increase in body temperature (maximum: 38.9 °C) and end-tidal carbon dioxide (ETCO2) (maximum: 59 mmHg) was noted. We suspected MH and started cooling the body surface of the axilla, cervix, and body trunk, and administered chilled potassium-free fluid and dantrolene. After her body temperature dropped and her shivering improved, dantrolene administration was ended, and finally she was taken to the intensive care unit (ICU). Body cooling was continued within the target range of 36–37 °C in the ICU. No consciousness disorder, hypotension, increased serum potassium level, metabolic acidosis, or cola-colored urine was observed during her ICU stay. Subsequently, her general condition improved and she was discharged on day 12. Muscle biopsy after discharge was performed and provided a definitive diagnosis of MH. Conclusions The occurrence of MH can be life-threatening, but its frequency is very low, and genetic testing and muscle biopsy are required to confirm the diagnosis. On retrospective evaluation using the malignant hyperthermia scale, the present case was almost certainly that of a patient with MH. Prompt recognition and immediate treatment with dantrolene administration and body cooling effectively reversed a potentially fatal syndrome. This was hence a valuable case of a patient with postoperative MH that led to a confirmed diagnosis by CICR.


2021 ◽  
Vol 11 (5) ◽  
pp. 2333
Author(s):  
Claudia Ciaccio ◽  
Chiara Pantaleoni ◽  
Franco Taroni ◽  
Daniela Di Bella ◽  
Stefania Magri ◽  
...  

Background: Cerebellar atrophy is a neuroradiological definition that categorizes conditions heterogeneous for clinical findings, disease course, and genetic defect. Most of the papers proposing a diagnostic workup for pediatric ataxias are based on neuroradiology or on the literature and experimental knowledge, with a poor participation of clinics in the process of disease definition. Our study aims to offer a different perspective on the way we approach cerebellar atrophy in developmental age, building a clinical-based diagnostic workup to guide molecular diagnosis. Methods: we recruited 52 patients with pediatric-onset cerebellar atrophy and definite disease categorization. Children underwent brain MRI, neurophysiological exams, metabolic investigations, and muscle biopsy with respiratory chain complex study. Single-gene sequencing, next-generation sequencing NGS panels, whole-exome sequencing (WES), and disease-specific techniques have been used to reach genetic confirmation. Results: Brain MRI is the main method of diagnosis, followed by tests on muscle biopsy and peripheral nervous system study. Other exams (e.g., metabolic investigations or evoked potentials) may be useful to narrow the list of diagnostic possibilities. Conclusions: We propose a diagnostic approach to cerebellar atrophy in children based on clinical findings, and support the evidence that a precise phenotypic definition may lead to the formulation of a definite diagnosis or otherwise guide the back phenotyping process derived from large molecular data.


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