Comparison of Clinical Characteristics Between Congenital Fiber Type Disproportion Myopathy and Congenital Myopathy with Type 1 Fiber Predominance

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.

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Centronuclear myopathy: histopathological aspects in ten patients with chilfhood onset

Arquivos de Neuro-Psiquiatria ◽

10.1590/s0004-282x1998000100001 ◽

1998 ◽

Vol 56 (1) ◽

pp. 01-08 ◽

Cited By ~ 2

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.

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The clinical characteristics of primary hyperparathyroidism (PHPT) in patients with multiple endocrine neoplasia (MEN) type 1

Endocrine Abstracts ◽

10.1530/endoabs.32.p527 ◽

2013 ◽

Author(s):

Liliya Rostomyan ◽

Nataliya Mokrysheva ◽

Anatoly Tiulpakov ◽

Alla Artemova ◽

Nataliya Kirdyankina ◽

...

Keyword(s):

Primary Hyperparathyroidism ◽

Clinical Characteristics ◽

Multiple Endocrine Neoplasia ◽

Endocrine Neoplasia

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Biochemical and clinical characteristics of polysystic ovarian syndrome (PCOS) in women with and without type 1 diabetes (TID)

Endocrine Abstracts ◽

10.1530/endoabs.49.ep1150 ◽

2017 ◽

Author(s):

Anjuli Gunness ◽

Agnieska Pazderska ◽

Mohamed Ahmed ◽

Niamh Phelan ◽

Gerard Boran ◽

...

Keyword(s):

Type 1 Diabetes ◽

Clinical Characteristics ◽

Ovarian Syndrome

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Glycemic control status, diabetes management patterns, and clinical characteristics of adults with type 1 diabetes in Japan: Study of Adults’ Glycemia in T1DM subanalysis

Diabetology International ◽

10.1007/s13340-021-00504-7 ◽

2021 ◽

Author(s):

Norio Abiru ◽

Akira Shimada ◽

Rimei Nishimura ◽

Munehide Matsuhisa ◽

Asuka Ozaki ◽

...

Keyword(s):

Type 1 Diabetes ◽

Glycemic Control ◽

Clinical Characteristics ◽

Diabetes Management

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Circulating miRNA-202-3p is a potential novel biomarker for diagnosis of type 1 gastric neuroendocrine neoplasms

BMC Gastroenterology ◽

10.1186/s12876-021-01769-7 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Dou Dou ◽

Xiao-kou Li ◽

Qi-sheng Xia ◽

Ying-ying Chen ◽

Yuan-liang Li ◽

...

Keyword(s):

Clinical Characteristics ◽

Matched Control ◽

Future Research ◽

Control Group ◽

Neuroendocrine Neoplasms ◽

Diagnostic Biomarkers ◽

Standard Curve ◽

Qrt Pcr ◽

Age And Sex

Abstract Background Currently, there are no circulating diagnostic biomarkers for gastric neuroendocrine neoplasms (g-NENs). In previous studies, we found that miRNA-202-3p is overexpressed in the tumour tissue of type 1 g-NEN. We speculated that miRNA-202-3p is also likely to be highly expressed in circulating blood. Methods A total of 27 patients with type 1 g-NEN and 27 age- and sex-matched control participants were enrolled in this study. The miRNA-202-3p levels in serum obtained from the participants were measured by qRT‐PCR. The expression level of miRNA-202-3p in the samples was calculated by comparison with a standard curve. Results The clinical characteristics of the patients were similar to those of the patient samples in previous reports. Expression of miRNA-202-3p was significantly higher in the patient group (3.84 × 107 copies/nl) than in the control group (0.635 × 107 copies/nl). The area under the ROC curve (AUC) was 0.878 (95% CI: 0.788–0.968), and the optimal cut-off point was approximately 1.12 × 107 copies/nl. The sensitivity and specificity were 88.9% and 77.8%, respectively. Conclusion This study suggests that miRNA-202-3p is potentially useful as a biomarker of type 1 g-NEN; further investigation and verification should be performed in future research.

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Clinical characteristics of metabolic associated fatty liver disease (MAFLD) in subjects with myotonic dystrophy type 1 (DM1)

Digestive and Liver Disease ◽

10.1016/j.dld.2020.12.010 ◽

2021 ◽

Cited By ~ 1

Author(s):

Luca Miele ◽

Alessia Perna ◽

Marianxhela Dajko ◽

Maria A. Zocco ◽

Antonio De Magistris ◽

...

Keyword(s):

Liver Disease ◽

Fatty Liver ◽

Myotonic Dystrophy ◽

Fatty Liver Disease ◽

Clinical Characteristics ◽

Myotonic Dystrophy Type 1 ◽

Myotonic Dystrophy Type

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The prevalence, immune profile, and clinical characteristics of children with celiac disease and type 1 diabetes mellitus in the state of Qatar

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2021-0452 ◽

2021 ◽

Vol 0 (0) ◽

Author(s):

Basma Haris ◽

Ahmed Abdellatief ◽

Houda Afyouni ◽

Tasneem Abdel-Karim ◽

Shayma Mohammed ◽

...

Keyword(s):

Diabetes Mellitus ◽

Type 1 Diabetes ◽

Celiac Disease ◽

Type 1 Diabetes Mellitus ◽

Clinical Characteristics ◽

Family History Of Diabetes ◽

Positive Type ◽

Immune Profile ◽

Insulin Autoantibody

Abstract Objectives Children with antibody positive type 1 diabetes mellitus (type 1 diabetes) are at an increased risk of developing celiac disease (CD) which suggests a common autoimmune basis with both high-risk human lymphocyte antigen (HLA) and non-HLA factors playing a role in the pathophysiology. We aim to describe the prevalence, immune profile, and clinical characteristics of children with CD who have type 1 diabetes mellitus in Qatar. Methods All children (aged 0–18 years) attending a regional diabetes clinic with antibody positive type 1 diabetes were screened for CD. Measurement of tissue transglutaminase IgA and IgG as well as anti-endomysial antibody, was done, clinical details about the birth history, family history of diabetes and CD, age of onset, and ethnicity were collected. Results Out of the 1,325 children with antibody positive type 1 diabetes, 54 were identified to have CD on screening and then confirmed on small bowel biopsy. The prevalence of CD in the type 1 diabetes childhood population in Qatar is 4.07%. CD and type 1 diabetes were more prevalent in the Qatari children (n=32) as compared to non-Qatari (n=22) and occurred mostly in the age group 6–10 years. The most common type 1 diabetes antibodies in children with CD were glutamic acid decarboxylase and insulin autoantibody. Twelve subjects were asymptomatic for CD symptoms and picked up only on screening. Conclusions The prevalence of CD in children with type 1 diabetes in Qatar is comparable to reports from around the world. Many children were asymptomatic and thus routine screening is recommended.

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