Basophilic accumulations, which stained intensely with the NADH-TR reaction, were present in both fibre types. Electron microscopy revealed that these consisted of tightly packed parallel tubular arrays. [ncbi.nlm.nih.gov]

Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. [books.google.de]

• Inflammation

  (G71.1) Myotonia Neuromyotonia (G71.2) The congenital myopathies do not show evidence for either a progressive dystrophic process (i.e., muscle death) or inflammation, but instead characteristic microscopic changes are seen in association with reduced [en.wikipedia.org]

  Using Dixon technique, fat replacement of muscle can be quantified objectively and using STIR or T2-mapping, signs of inflammation can be identified and followed. [neuromuscular.dk]

  Causes of muscle disorders include Injury or overuse, such as sprains or strains, cramps or tendinitis A genetic disorder, such as muscular dystrophy Some cancers Inflammation, such as myositis Diseases of nerves that affect muscles Infections Certain [icdlist.com]

  No inflammation or fibre necrosis was seen. Electron microscopy confirmed the presence of tubular aggregates (fig 2). [jnnp.bmj.com]

• Asymptomatic

  All patients had a mild, late onset TAM revealed by asymptomatic creatine kinase (CK) elevation and congenital miosis consistent with a Stormorken-like Syndrome, in the absence of thrombocytopathy. [ncbi.nlm.nih.gov]

  […] tubular aggregates in 1991, but the reasons why were unclear. [11] Last updated: 12/28/2016 The symptoms and severity of tubular aggregate myopathy (TAM) can vary from person to person, even within the same family. [2] [4] Some individuals may even appear asymptomatic [rarediseases.info.nih.gov]

  The different distribution patterns shown by variations in the intensity and severity of muscle involvement may help to achieve differential diagnosis, to identify asymptomatic subjects and to follow up myopathic patients [2] – [7]. [journals.plos.org]

• Pathologist

  Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication [invitae.com]

• Hypercapnic Respiratory Failure

  Acute hypercapnic respiratory failure (AHRF) is a common reason for hospital admission. Most patients have an underlying chronic lung disease such as chronic obstructive pulmonary disease. [ncbi.nlm.nih.gov]

• Nausea

  […] of hospitalization, rates of antibiotic use, rates of pulmonary infections, pneumothorax, atelectasis, aspiration and adverse complaints including bloating, constipation, chest pain, dyspnea assessed by a validated breathing assessment, vomiting and nausea [clinicaltrials.gov]

• Vomiting

  […] including rates of hospitalization, rates of antibiotic use, rates of pulmonary infections, pneumothorax, atelectasis, aspiration and adverse complaints including bloating, constipation, chest pain, dyspnea assessed by a validated breathing assessment, vomiting [clinicaltrials.gov]

• Myopathy

  KEYWORDS: MRI pattern; Muscle MRI; Muscle imaging; STIM1; Tubular aggregate myopathy [ncbi.nlm.nih.gov]

  Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1. [forskning.ku.dk]

  They are a nonspecific pathologic finding that may occur in a variety of circumstances, including alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness, and inherited myopathies. [link.springer.com]

• Fracture

  Scholar, Google, WikiPedia 近位樹状突起 proximal gastrectomy * PubMed, Scholar, Google, WikiPedia 噴門側胃切除 proximal gastric vagotomy * シソーラス PubMed, Scholar, Google, WikiPedia (胃潰瘍治療法) 近位胃迷走神経切離術, 近位胃迷走神経切断術 【類義語】 highly selective vagotomy proximal humeral fracture [lsd-project.jp]

  Movement (REM) sleep apnea hypopnea index and mean oxygen saturation during REM and total sleep study, age, gender, type of treatment center location (national referral center, tertiary care hospital, community hospital), gastrostomy tube, total number of fractures [clinicaltrials.gov]

  Other features included ophthalmoparesis and pathological fractures. [emedicine.medscape.com]

  M97-M97 Periprosthetic fracture around internal ... M99-M99 Biomechanical lesions, not elsewhere cla... [icd10data.com]

More on Genetics of Tubular aggregate myopathy » Treatments: Tubular aggregate myopathy Treatment : Currently, we are unaware of any targeted therapies for tubular aggregate myopathy. [familydiagnosis.com]

The biggest downer is being told by the medical profession that they know nothing about it and that there is no treatment. There definitely is treatment that helps some TAM folk. [braintalkcommunities.org]

Botulism: the challenge of diagnosis and treatment. Rev Neurol Dis. 2006;3:182-189. Chalk C, Benstead TJ, Keezer M. Medical treatment for botulism. Cochrane Database Syst Rev. 2011;(3):CD008123. Dembek ZF, Smith LA, Rusnak JM. [tankonyvtar.hu]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

No effective treatment is known. [en.wikipedia.org]

In recent years, MDA-supported scientists have learned that centronuclear myopathies encompass a larger group of diseases than just X-linked myotubular myopathy, and that these types often have a better prognosis than the X-linked type. [mda.org]

[…] for Neurology and Neurosurgery Subject Biopsy; Chronic Disease; DNA Mutational Analysis; DNA, Mitochondrial/analysis; DNA, Mitochondrial/genetics; Gene Deletion; Humans; Inclusion Bodies/pathology; Iris/pathology; Iris/physiopathology; Iris Diseases/etiology [collections.lib.utah.edu]

Altogether, these results pave the way for understanding the etiology of this rare neuromuscular disorder that may be considered as a “tubular aggregates myopathy with synaptopathy”. [springermedizin.de]

Références bibliographiques Arbogast S, Beuvin M, Fraysse B, et al. (2007) Oxydative stress in SEP N1-related myopathy:from pathophysiology to treatment. [link.springer.com]

No obvious pathophysiology groups are present in these diseases caused by loss-of-function mutations. Additional file 1 : Tables S7 and S8 list all gain-of-function and loss-of-function mutation candidates passed our computational filter. [ojrd.biomedcentral.com]

Tubular aggregates derive from the sarcoplasmic reticulum and are believed to represent an adaptive mechanism to regulate an increased intracellular level of calcium and prevent hypercontraction and necrosis of muscle fibers. [link.springer.com]

[…] kinaseマップキナーゼ MELAS syndromeMELAS症候群 MIN6 cellMIN6細胞 MODY若年発症成人型糖尿病 MSHメラニン細胞刺激ホルモン MafAMafA Maillard productMaillard 反応産生物 Maillard productマイヤール反応産生物 Maillard productメイラード反応産生物 Maillard reactionマイヤール反応 Management of elevated cholesterol in the primary prevention [jds.or.jp]