scholarly journals Centronuclear myopathy: histopathological aspects in ten patients with chilfhood onset

1998 ◽  
Vol 56 (1) ◽  
pp. 01-08 ◽  
Author(s):  
EDMAR ZANOTELI ◽  
ACARY SOUZA BULLE OLIVEIRA ◽  
BEATRIZ HITOMI KIYOMOTO ◽  
BENY SCHMIDT ◽  
ALBERTO ALAIN GABBAI
Keyword(s):  
Ultrastructural Study ◽  
Fiber Type ◽  
Signs And Symptoms ◽  
Congenital Myopathy ◽  
Great Variability ◽  
Type I ◽  
Centronuclear Myopathy ◽  
Adult Onset ◽  
Childhood Onset

Centronuclear myopathy is a rare congenital myopathy. According to the period of onset of signs and symptoms and the degree of muscular involvement three clinical forms are distinguished: severe neonatal; childhood onset; and adult onset. We describe herein the muscle biopsy findings of ten patients with the childhood onset form of the disease including three cases with ultrastructural study. The biopsies disclosed increased nuclear centralization that varied from 25 to 90% of the fibers, type 1 predominance, great variability in fiber diameters, involvement in the internal fiber's architecture, and focal areas of myofilament disorganization. The main histopathologic differential diagnoses included type I fiber predominance, congenital fiber type disproportion, and myotonic dystrophy. The histologic abnormalities in centronuclear myopathy may be due to an arrest of maturation on the fetal myotubular stage. The cause of this arrest remains elusive.

scholarly journals Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark

2017 ◽  
Vol 3 (2) ◽  
pp. e140 ◽  
Author(s):  
Nanna Witting ◽  
Ulla Werlauff ◽  
Morten Duno ◽  
John Vissing
Keyword(s):  
Fiber Type ◽  
Adult Population ◽  
Congenital Myopathy ◽  
Compound Heterozygous ◽  
Walking Ability ◽  
Type I ◽  
Centronuclear Myopathy ◽  
Normal Limits ◽  
National Cohort ◽  
Nosologic Entity

Objective:Congenital myopathy as a nosologic entity has long been recognized, but knowledge of overall and subtype prevalence and phenotype-genotype relationship is scarce, especially in the adult population.Methods:A national cohort of 107 patients ≥5 years diagnosed with congenital myopathy were prospectively assessed clinically, histologically, and genetically.Results:Twenty-five patients were excluded because of atypical features or alternative etiologies. The remaining 82 were on average 28 years old. Histologic examination revealed 14 (17%) with core disease, 15 (18%) centronuclear myopathy, 12 (15%) nemaline rods, 27 (33%) congenital fiber-type disproportion or type I predominance, and 14 (17%) nonspecific myopathic changes. Genetic etiology was identified in 46 patients (56.1%); 22.0% were heterozygous or compound heterozygous for mutations in RYR1, 7.3% had DNM2 mutations, and 7.3% NEB mutations. Less than 5% had mutations in ACTA1, TPM2/3, MTM1, TTN, SEPN1, or SC4NA. A genetic cause was established in 83% with specific histology (cores/rods/centronuclear myopathy) vs 29% with unspecific histology. The detailed clinical examination found gene-dependent discrepancies in the pattern of muscle affection and walking ability. Although walking ability was delayed in patients with ACTA1, TPM2/3, and RYR1 mutations, it was within normal limits in patients with NEB and DNM2 mutations.Conclusions:We found that overall, genetic and histologic prevalence of congenital myopathy in Denmark differs from previous retrospective reports. Less RYR1 and more DNM2 and NEB mutations and less core histology were present in our cohort. These differences may be explained by our prospective design, the older cohort of patients, and by differences in genetic background.

scholarly journals Insulin micro-secretion in Type 1 diabetes and related microRNA profiles

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Andrzej S. Januszewski ◽  
Yoon Hi Cho ◽  
Mugdha V. Joglekar ◽  
Ryan J. Farr ◽  
Emma S. Scott ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Cross Sectional Study ◽  
Diabetes Duration ◽  
Adult Onset ◽  
Sectional Study ◽  
Childhood Onset ◽  
Cross Sectional ◽  
C Peptide ◽  
Adult Onset Diabetes

AbstractThe aim of this cross-sectional study was to compare plasma C-peptide presence and levels in people without diabetes (CON) and with Type 1 diabetes and relate C-peptide status to clinical factors. In a subset we evaluated 50 microRNAs (miRs) previously implicated in beta-cell death and associations with clinical status and C-peptide levels. Diabetes age of onset was stratified as adult (≥ 18 y.o) or childhood (< 18 y.o.), and diabetes duration was stratified as ≤ 10 years, 10–20 years and > 20 years. Plasma C-peptide was measured by ultrasensitive ELISA. Plasma miRs were quantified using TaqMan probe-primer mix on an OpenArray platform. C-peptide was detectable in 55.3% of (n = 349) people with diabetes, including 64.1% of adults and 34.0% of youth with diabetes, p < 0.0001 and in all (n = 253) participants without diabetes (CON). C-peptide levels, when detectable, were lower in the individuals with diabetes than in the CON group [median lower quartile (LQ)–upper quartile (UQ)] 5.0 (2.6–28.7) versus 650.9 (401.2–732.4) pmol/L respectively, p < 0.0001 and lower in childhood versus adult-onset diabetes [median (LQ–UQ) 4.2 (2.6–12.2) pmol/L vs. 8.0 (2.3–80.5) pmol/L, p = 0.02, respectively]. In the childhood-onset group more people with longer diabetes duration (> 20 years) had detectable C-peptide (60%) than in those with shorter diabetes duration (39%, p for trend < 0.05). Nine miRs significantly correlated with detectable C-peptide levels in people with diabetes and 16 miRs correlated with C-peptide levels in CON. Our cross-sectional study results are supportive of (a) greater beta-cell function loss in younger onset Type 1 diabetes; (b) persistent insulin secretion in adult-onset diabetes and possibly regenerative secretion in childhood-onset long diabetes duration; and (c) relationships of C-peptide levels with circulating miRs. Confirmatory clinical studies and related basic science studies are merited.

scholarly journals Chronic Polyhydramnios: A Medical Entity Which Could Be a Model of Muscle Development in Decreased Mechanical Loading Condition

2022 ◽  
Vol 12 ◽  
Author(s):  
Slobodan Sekulić ◽  
Branislava Jakovljević ◽  
Darinka Korovljev ◽  
Svetlana Simić ◽  
Ivan Čapo ◽  
...  
Keyword(s):  
Mechanical Loading ◽  
Muscle Development ◽  
Fiber Type ◽  
Published Data ◽  
Type I ◽  
Muscle Disorders ◽  
Physical Loading ◽  
Extensor Muscles ◽  
Medical Entity

Polyhydramnios is a condition related to an excessive accumulation of amniotic fluid in the third trimester of pregnancy and it can be acute and chronic depending on the duration. Published data suggest that during muscle development, in the stage of late histochemical differentiation decreased mechanical loading cause decreased expression of myosin heavy chain (MHC) type 1 leading to slow-to-fast transition. In the case of chronic polyhydramnios, histochemical muscle differentiation could be affected as a consequence of permanent decreased physical loading. Most affected would be muscles which are the most active i.e., spine extensor muscles and muscles of legs. Long-lasting decreased mechanical loading on muscle should cause decreased expression of MHC type 1 leading to slow-to-fast transition, decreased number of muscle fiber type I especially in extensor muscles of spine and legs. Additionally, because MHC type 1 is present in all skeletal muscles it could lead to various degrees of hypotrophy depending on constituting a percentage of MHC type 1 in affected muscles. These changes in the case of preexisting muscle disorders have the potential to deteriorate the muscle condition additionally. Given these facts, idiopathic chronic polyhydramnios is a rare opportunity to study the influence of reduced physical loading on muscle development in the human fetus. Also, it could be a medical entity to examine the influence of micro- and hypogravity conditions on the development of the fetal muscular system during the last trimester of gestation.

scholarly journals Type 1 Kounis Syndrome in a Patient with Idiopathic Anaphylaxis

2017 ◽  
Vol 8 (2) ◽  
pp. ar.2017.8.0198
Author(s):  
Monica Sandhu ◽  
Jason Casselman ◽  
Brian Peppers ◽  
Haig Tcheurekdjian ◽  
Robert W. Hostoffer
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Signs And Symptoms ◽  
Disease Type ◽  
Myocardial Infarctions ◽  
Type I ◽  
Kounis Syndrome ◽  
Artery Disease ◽  
Idiopathic Anaphylaxis

Anaphylactic insults that cause cardiovascular signs and symptoms have been defined as Kounis syndrome, which has been associated with specific triggered anaphylactic reactions. Kounis syndrome has not been described in patients with no evidence of coronary artery disease (type I Kounis) in a scenario of idiopathic anaphylaxis. We reported a case of a 65-year-old white woman with no evidence of coronary artery disease who experienced two myocardial infarctions on separate occasions attributable to idiopathic anaphylaxis.

NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material

2021 ◽  
Vol 80 (4) ◽  
pp. 366-376
Author(s):  
Karlijn Bouman ◽  
Benno Küsters ◽  
Josine M De Winter ◽  
Cynthia Gillet ◽  
Esmee S B Van Kleef ◽  
...  
Keyword(s):  
Electron Microscopy ◽  
Light Microscopy ◽  
Clinical Phenotype ◽  
Fiber Type ◽  
Muscle Relaxation ◽  
Nemaline Myopathy ◽  
Congenital Myopathy ◽  
Thin Filaments ◽  
Core Myopathy

AbstractNemaline myopathy type 6 (NEM6), KBTBD13-related congenital myopathy is caused by mutated KBTBD13 protein that interacts improperly with thin filaments/actin, provoking impaired muscle-relaxation kinetics. We describe muscle morphology in 18 Dutch NEM6 patients and correlate it with clinical phenotype and pathophysiological mechanisms. Rods were found in in 85% of biopsies by light microscopy, and 89% by electron microscopy. A peculiar ring disposition of rods resulting in ring-rods fiber was observed. Cores were found in 79% of NEM6 biopsies by light microscopy, and 83% by electron microscopy. Electron microscopy also disclosed granulofilamentous protein material in 9 biopsies. Fiber type 1 predominance and prominent nuclear internalization were found. Rods were immunoreactive for α-actinin and myotilin. Areas surrounding the rods showed titin overexpression suggesting derangement of the surrounding sarcomeres. NEM6 myopathology hallmarks are prominent cores, rods including ring-rods fibers, nuclear clumps, and granulofilamentous protein material. This material might represent the histopathologic epiphenomenon of altered interaction between mutated KBTBD13 protein and thin filaments. We claim to classify KBTBD13-related congenital myopathy as rod-core myopathy.

Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with RYR1-Related Congenital Centronuclear Myopathy

2021 ◽  
Author(s):  
Bhanudeep Singanamalla ◽  
Shivan Kesavan ◽  
Divya Aggarwal ◽  
Debajyoti Chatterjee ◽  
Andoni Urtizberea ◽  
...  
Keyword(s):  
Muscle Weakness ◽  
Muscle Biopsy ◽  
De Novo ◽  
Fiber Type ◽  
Neuromuscular Disorders ◽  
Malignant Hyperthermia Susceptibility ◽  
Centronuclear Myopathy ◽  
Childhood Onset ◽  
Congenital Myopathies ◽  
Skeletal Muscle Weakness

AbstractCongenital myopathies are an expanding spectrum of neuromuscular disorders with early infantile or childhood onset hypotonia and slowly or nonprogressive skeletal muscle weakness. RYR1-related myopathies are the most common and frequently diagnosed class of congenital myopathies. Malignant hyperthermia susceptibility and central core disease are autosomal dominant or de novo RYR1 disorder, whereas multiminicore, congenital fiber type disproportion and centronuclear myopathy are autosomal recessive RYR1 disorders. The presence of ptosis, ophthalmoparesis, facial, and proximal muscles weakness, with the presence of dusty cores and multiple internal nuclei on muscle biopsy are clues to the diagnosis. We describe an 18-year-old male, who presented with early infantile onset ptosis, ophthalmoplegia, myopathic facies, hanging lower jaw, and proximal muscle weakness confirmed as an RYR1-related congenital centronuclear myopathy on genetic analysis and muscle biopsy.

Distinct IA-2 Autoantibody Epitope Recognition between Childhood-Onset and Adult-Onset Type 1 Diabetes

2006 ◽  
Vol 958 (1) ◽  
pp. 235-240 ◽  
Author(s):  
EIJI KAWASAKI ◽  
YASUNORI SERA ◽  
NORIO ABIRU ◽  
MIKAKO YAMAUCHI ◽  
MASAKO OZAKI ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Adult Onset ◽  
Childhood Onset ◽  
Onset Type ◽  
Epitope Recognition

scholarly journals Diabetes and Sports

2016 ◽  
Vol 11 (1) ◽  
pp. 58-63
Author(s):  
Michael Yurkewicz ◽  
Michael Cordas ◽  
Amy Zellers ◽  
Michael Sweger
Keyword(s):  
Type 2 Diabetes ◽  
Type 1 Diabetes ◽  
Blood Glucose ◽  
Signs And Symptoms ◽  
The United States ◽  
Care Plan ◽  
Type I ◽  
Adequate Hydration

More than 29 million people in the United States have diabetes mellitus, including both type 1 and type 2 diabetes. The CDC also estimates that upward of 86 million people can be classified as prediabetic, with as many as 30% of these people transitioning into diabetes within the next 5 years. Individuals with type 1 diabetes account for roughly 5% of those patients. Dating back to 2008 and 2009, roughly 18 000 youth were diagnosed with type 1 diabetes each year. The prevalence of diabetes is well known; most of the studies that are completed today relate to the progression and/or treatment of those with type 2 diabetes. Yet most physicians will have to take care of a type 1 diabetic patient who will want to be active. Having a fundamental knowledge of how exercise affects insulin and blood glucose and how to manage these patients is important. Time must be taken to modify each treatment regimen for each individual. One cannot stress enough the importance of providing patient education, ensuring adequate hydration, recognizing signs and symptoms of hypoglycemia/hyperglycemia, and how to treat and prevent these serious complications. All patients must have a care plan and access to supplies during exercise. It is known that poorly controlled blood glucose can have detrimental consequences in the long term. The question is if type I diabetic athletes who are allowed to have higher blood glucose during exercise are at the same risk for these potential complications.

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