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Total 442 results found since Jan 2013.

Genes, Vol. 13, Pages 1991: Genetic and Clinical Spectrum of GNE Myopathy in Russia
r Polyakov Elena Dadali Sergey Kutsev GNE myopathy (GNEM) is a rare hereditary disease, but at the same time, it is the most common distal myopathy in several countries due to a founder effect of some pathogenic variants in the GNE gene. We collected the largest cohort of patients with GNEM from Russia and analyzed their mutational spectrum and clinical data. In our cohort, 10 novel variants were found, including 2 frameshift variants and 2 large deletions. One novel missense variant c.169_170delGCinsTT (p.(Ala57Phe)) was detected in 4 families in a homozygous state and in 3 unrelated patients in a compound heteroz...
Source: Genes - October 31, 2022 Category: Genetics & Stem Cells Authors: Aysylu Murtazina Sergey Nikitin Galina Rudenskaya Inna Sharkova Artem Borovikov Peter Sparber Olga Shchagina Alena Chukhrova Oksana Ryzhkova Olga Shatokhina Anna Orlova Vasilisa Udalova Ilya Kanivets Sergey Korostelev Alexander Polyakov Elena Dadali Serge Tags: Article Source Type: research

Anti-SRP immune-mediated necrotizing myopathy: A critical review of current concepts
Purpose of reviewThis review aims to describe clinical and histological features, treatment, and prognosis in patients with anti-signal recognition particle (SRP) autoantibodies positive immune-mediated necrotizing myopathy (SRP-IMNM) based on previous findings.Previous findingsAnti-SRP autoantibodies are specific in IMNM. Humoral autoimmune and inflammatory responses are the main autoimmune characteristics of SRP-IMNM. SRP-IMNM is clinically characterized by acute or subacute, moderately severe, symmetrical proximal weakness. Younger patients with SRP-IMNM tend to have more severe clinical symptoms. Patients with SRP-IMNM...
Source: Frontiers in Immunology - October 13, 2022 Category: Allergy & Immunology Source Type: research

independent origin for M.3243A & gt;G mitochondrial mutation in three venezuelan cases of melas syndrome
Clin Biochem. 2022 Sep 18:S0009-9120(22)00221-1. doi: 10.1016/j.clinbiochem.2022.09.007. Online ahead of print.ABSTRACTMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a multisystem and progressive neurodegenerative mitochondrial disease, caused by point nucleotide changes in the mtDNA where 80% of cases have the mutation m.3243A>G in the MT-TL1 gene. In this work, we described the clinical, biochemical and molecular analysis of three Venezuelan patients affected with MELAS syndrome. All cases showed lactic acidosis, cortical cerebral atrophy on magnetic resonance imaging and ...
Source: Clinical Biochemistry - September 21, 2022 Category: Biochemistry Authors: Ingrid Florez Irune Pirrone Liliana Casique Carmen Luisa Dom ínguez Antonieta Mahfoud Tania Rodr íguez Daniel Rodr íguez Marisel De Lucca Jos é Luis Ramírez Source Type: research

Anti-signal Recognition Particle Antibody-positive Immune-mediated Myopathy after mRNA-1273 SARS-CoV-2 Vaccination
Intern Med. 2022 Sep 13. doi: 10.2169/internalmedicine.0404-22. Online ahead of print.ABSTRACTA 26-year-old Japanese woman developed a fever, myalgia and gait disturbance one day after receiving the second dose of the mRNA-1273 severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccine. A neurological examination revealed symmetrical weakness and myalgia in proximal lower limbs, and a blood examination showed prominent elevation of creatinine kinase. Magnetic resonance imaging (MRI) revealed a high signal intensity in the thigh muscles on short-tau inversion recovery images, and antibody testing revealed positive...
Source: Internal Medicine - September 14, 2022 Category: Internal Medicine Authors: Masanobu Tanemoto Ryosuke Oda Yuichiro Toyama Hirohiko Shizukawa Kazuki Yokokawa Taro Saito Syuuichirou Suzuki Akihiro Matsumura Shin Hisahara Source Type: research

129 Limb girdle muscular dystrophy R12 (LGMD 2L, anoctaminopathy) presenting as refractory myositis: a case series
The idiopathic inflammatory myopathy (IIMs) are a rare heterogenous group of immune-mediated diseases leading to muscle inflammation. Prompt and accurate diagnosis is important so that immunosuppressive treatment can commence and irreversible tissue damage be avoided. Other rare conditions may mimic IIM, making confirmation of diagnosis sometimes difficult. Limb girdle muscular dystrophy type R12 (LGMD 2L, anoctaminopathy) is a recessive genetic myopathy which may present in adulthood and is caused by pathogenic variants in the ANO5 gene. Clinical pres- entation can vary from asymptomatic hyper-CK-aemia to exertional myalg...
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Marago, I., Chinoy, H., Roberts, M., Roncaroli, F., Duplessis, D., Marini-Bettolo, C., Lilleker, J. Tags: Live Poster, 13 May Poster Session 1 Source Type: research

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis: A case report
Radiol Case Rep. 2022 May 8;17(7):2428-2431. doi: 10.1016/j.radcr.2022.04.019. eCollection 2022 Jul.ABSTRACTMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome presents with the features of herpes simplex encephalitis (HSE), which is rare and has been described in only a few case reports. Our case describes a 17-year-old female with no significant previous medical history presenting with an acute onset of fever, headache, and epilepsy, similar to HSE. Computed tomography of the brain showed bilateral basal ganglia calcification. Magnetic resonance imaging demonstrated gyriform...
Source: Herpes - May 23, 2022 Category: Infectious Diseases Authors: Wen-Gao Zeng Wan-Min Liao Jue Hu Su-Fen Chen Zhen Wang Source Type: research

The role of multimodality imaging in patients with heart failure with reduced and preserved ejection fraction
Purpose of review The burden of clinical heart failure, both heart failure with a reduced ejection fraction (HFrEF) and with a preserved ejection fraction (HFpEF), continues to increase both nationally and globally. This review summarizes the expanding role of multimodality imaging techniques in the evaluation and management these patients. Recent findings Echocardiographic assessment for heart failure continues to expand and should include a robust hemodynamic and strain assessment. Nuclear techniques have also continued to evolve and advances including computed tomography attenuation correction for single phot...
Source: Current Opinion in Cardiology - May 1, 2022 Category: Cardiology Tags: HEART FAILURE: Edited by Jerry Estep Source Type: research

Using magnetic resonance imaging to map the hidden burden of muscle involvement in systemic sclerosis
Skeletal muscle can be directly affected by systemic sclerosis (SSc); however, a significant burden of SSc-associated myopathy is undetected because clinical parameters such as weakness and creatine kinase (CK...
Source: Arthritis Research and Therapy - April 11, 2022 Category: Rheumatology Authors: Laura Ross, Anniina Lindqvist, Benedict Costello, Dylan Hansen, Zoe Brown, Jessica A. Day, Wendy Stevens, Andrew Burns, Warren Perera, Marcus Pianta, Andr é La Gerche and Mandana Nikpour Tags: Research Source Type: research