Results 41 to 50 of about 12,338 (187)

Clinical Characteristics, Differential Diagnosis and Genetic Analysis of Concentric Retinitis Pigmentosa

Life, 2021
Concentric retinitis pigmentosa (RP), in which retinal degeneration is limited in the periphery, is rare and little information exists to date on the subject. Herein, we describe the clinical and genetic characteristics of this atypical form of RP.
Mei Nakahara, Akio Oishi, Manabu Miyata, Hanako Ohashi Ikeda, Tomoko Hasegawa, Shogo Numa, Yuki Otsuka, Maho Oishi, Fumihiko Matsuda, Akitaka Tsujikawa   +9 more
doaj   +1 more source

Myotonic dystrophy with pseudohyperkalemia

Nihon Naika Gakkai Zasshi, 2003
症例は43歳,女性. 40歳より筋力低下を自覚. 42歳時高K血症を指摘され来院.特徴的顔貌,ミオトニア,針筋電図より筋強直性ジストロフィーと診断.血清K高値であるが同時採血した動脈血液の全血K値は正常であり,心電図変化も伴わず,偽性高K血症と診断.血清K値は変動し,体動後に上昇する傾向がみられた.筋強直性ジストロフィーでは偽性高K血症を示すことがあり,注意を要すると考えられ報告する.
Ota, Kikuko, Shinto, Atsushi, Nishioka, Tatsuya, Suehiro, Tadashi, Hashimoto, Kozo   +4 more
openaire   +3 more sources

Narcolepsy and rapid eye movement sleep

Journal of Sleep Research, Volume 34, Issue 2, April 2025.
Summary Since the first description of narcolepsy at the end of the 19th Century, great progress has been made. The disease is nowadays distinguished as narcolepsy type 1 and type 2. In the 1960s, the discovery of rapid eye movement sleep at sleep onset led to improved understanding of core sleep‐related disease symptoms of the disease (excessive ...
Francesco Biscarini, Lucie Barateau, Fabio Pizza, Giuseppe Plazzi, Yves Dauvilliers   +4 more
wiley   +1 more source

Senolytics and exercise: Dual modalities for rejuvenating muscle

The Journal of Physiology, EarlyView.
Abstract figure legend The role of senolytics on the heart and skeletal muscle. Senescent cell burden increases with ageing, disuse and disease. The senolytics dasatinib+quercetin (D+Q), navitoclax and fisetin, as well as exercise, eliminate senescent cells, reducing senescent cell burden and their senescence‐associated secretory phenotype (SASP ...
Zeynep Elif Yesilyurt‐Dirican, Ce Qi, Uchenna Okpechi, Maya Strand Ford, Georgina M. Ellison‐Hughes   +4 more
wiley   +1 more source

A pedigree with myotonic dystrophy: electrophysiological and genetic characteristics

Chinese Journal of Contemporary Neurology and Neurosurgery
Objective To summarize the clinical, electrophysiological and genetic characteristics of a pedigree with myotonic dystrophy (DM). Methods and Results The 25-year-old male proband exhibited an occult onset, characterized by a distinctive "hatchet face ...
HUANG Jing, LEI Qian, LEI Xiao-yang, YANG Xiao-min, WAN Xiang-hong, HE Dian   +5 more
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Muscle Strength, Balance, and Indoor Mobility in Oculopharyngeal Muscular Dystrophy: An Exploratory Canadian Multicenter Study

Muscle &Nerve, Volume 74, Issue 3, Page 656-668, September 2026.
ABSTRACT Introduction/Aims Oculopharyngeal muscular dystrophy (OPMD) is a neuromuscular disease presenting with dysphagia, ptosis, and proximal weakness. Muscle strength and indoor mobility capacity have rarely been studied using standardized clinical outcome assessments (COAs). The objectives of this study were to (1) document muscle strength, balance,
Nicolas Bélair, Jean‐Denis Brisson, Bernard Brais, Xavier Rodrigue, Hanns Lochmüller, Luc J. Hébert, Jessica MacGregor, Brenda Dennison, Isabelle Lessard, Isabelle Côté, Elise Duchesne, Cynthia Gagnon   +11 more
wiley   +1 more source

Cancer and Myotonic Dystrophy

Journal of Clinical Medicine, 2023
Myotonic dystrophy (DM) is the most common muscular dystrophy in adults. Dominantly inherited CTG and CCTG repeat expansions in DMPK and CNBP genes cause DM type 1 (DM1) and 2 (DM2), respectively. These genetic defects lead to the abnormal splicing of different mRNA transcripts, which are thought to be responsible for the multiorgan involvement of ...
Eleonora S. D’Ambrosio, Paloma Gonzalez-Perez   +1 more
openaire   +2 more sources

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, Volume 270, Issue 1, Page 83-97, September 2026.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

IDMC-6 - The Sixth International Myotonic Dystrophy Consortium Meeting

European Journal of Histochemistry, 2009
In 1992 three groups of investigators found that myotonic dystrophy of Steinert, classical myotonic dystrophy, now known as myotonic dystrophy type 1 (DM1), results from an unstable CTG repeat expansion in the non-coding 3’ region of serinethreonine ...
G Meola
doaj   +1 more source