Results 91 to 100 of about 15,859 (215)

Autoimmune polyglandular disorders in myotonic dystrophy

Problems of Endocrinology, 2019
Myotonic dystrophy (MD) is the most common muscle disorder in adults. MD is a hereditary disease with an autosomal dominant mode of inheritance, almost 100% penetrance and pronounced clinical polymorphism. The mechanism for the development of the disease is that a mutation of the DMPK (dystrophia myotonica protein kinase) gene disrupts the normal ...
Ekaterina A. Troshina, Elena A. Panfilova, Taras S. Panevin   +2 more
openaire   +2 more sources

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1326-1336, June 2026.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe, Abbey A. Scott, Lukas Kruidenier, Jessie Conta, Darci L. Sternen, Sarah V. Clowes Candadai, Shannon M. Stasi, Julia Parish‐Morris, Megan Sikes, Margaret P. Adam, Anita E. Beck, Jennifer C. Hayek, Ian Glass, James T. Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M. Dipple, Tara L. Wenger   +22 more
wiley   +1 more source

Oligonucleotide-based therapy for FTD/ALS caused by the C9orf72 repeat expansion: a perspective [PDF]

, 2013
Amyotrophic lateral sclerosis (ALS) is a progressive and lethal disease of motor neuron degeneration, leading to paralysis of voluntary muscles and death by respiratory failure within five years of onset. Frontotemporal dementia (FTD) is characterised by
Aoki, Yoshitsugu, Douglas, Andrew G.L., Fernandes, Stephanie A., Varela, Miguel A., Wood, Matthew J.A.   +4 more
core   +2 more sources

A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping

Annals of Clinical and Translational Neurology, Volume 13, Issue 5, Page 1078-1083, May 2026.
ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari, Arens Taga, Sonya Ulrike Steele, Ahmet Hoke   +3 more
wiley   +1 more source

Can human pluripotent stem cell-derived cardiomyocytes advance understanding of muscular dystrophies? [PDF]

, 2016
Muscular dystrophies (MDs) are clinically and molecularly a highly heterogeneous group of single-gene disorders that primarily affect striated muscles.
Denning, Chris, Kalra, Spandan, Montanaro, Federica   +2 more
core   +4 more sources

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 771-779, May 2026.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Britannia Morgan Fleming, Hagit Baris Feldman, Lena Sagi‐Dain, Mordechai Shohat, Rayna Joy Goldstein, Yuval Yaron, Michal Levy   +11 more
wiley   +1 more source

Anxiety, depression: comorbidity of chronic orofacial pain disorder in temporomandibular joint dysfunction syndrom

Обозрение психиатрии и медицинской психологии имени В.М. Бехтерева
Persistent orofacial pain belongs to a group of pain conditions of non-dental etiology affecting the face and mouth, significantly impacting quality of life and having a biopsychosocial nature.
Yulia V. Kotsiubinskaya
doaj   +1 more source

Expandable DNA Repeat and Human Hereditary Disorders [PDF]

Journal of Kerman University of Medical Sciences, 2016
Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of copies of simple repeats in genomic DNA, including fragile X syndrome, myotonic dystrophy, Huntington’s disease, and Friedreich’s ataxia.
Shahin Ramazi, Ali Fasihi, Maryam Godarziyan, Morteza Hashemzadeh-Chaleshtori   +3 more
doaj  

Clinical and laboratory correlates of selective autonomic dysfunction due to Ross syndrome

Journal of Family Medicine and Primary Care, 2019
Ross syndrome is diagnosed by the presence of the characteristic triad of segmental anhidrosis, depressed deep tendon reflex, and tonic pupils. It is a rare, misdiagnosed autonomic disorder with less than 80 cases reported in the world literature.
Samhita Panda, Diwakar Verma, Anil Budania, Jyotsna N Bharti, Rajesh K Sharma   +4 more
doaj   +1 more source

Polymorphic myopathological findings in a 77‐year‐old woman with oculo‐bulbo‐facial and distal weakness

Brain Pathology, EarlyView.
Michele Tosi, Angela Puma, Elena Faedo, Gianmarco Severa, Luisa Villa, Sabrina Sacconi, Edoardo Malfatti   +6 more
wiley   +1 more source