Results 51 to 60 of about 26,572 (220)

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

American Journal of Medical Genetics Part A, EarlyView.
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

Pulmonary thromboembolism in a patient with myotonic dystrophy type 1

Annals of Indian Academy of Neurology, 2012
Thromboembolism is a rare complication in patients with myotonic dystrophy. While immobilization of patients with advanced disease predisposes to high risk for venous thromboembolism, hypercoagulability could account for venous thromboembolism in ...
Joong-Yang Cho, So-Young Seo, Yong-Jin Cho, Keun-Sik Hong, Hee Kyung Park, Ju Hyun Lee, Sung-Soon Lee   +6 more
doaj   +1 more source

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

Anesthetic management for a patient with myotonic dystrophy with remimazolam

JA Clinical Reports, 2021
Background Patients with myotonic dystrophy may have increased sensitivity to drugs used for anesthesia. We successfully managed general anesthesia in a patient with myotonic dystrophy using a novel intravenous anesthetic, remimazolam.
Yasuhiro Morimoto, Aya Yoshimatsu, Manabu Yoshimura   +2 more
doaj   +1 more source

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

Prenatal Diagnosis, EarlyView.
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

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Orphanet Journal of Rare Diseases, 2018
Background Myotonic Dystrophy is the most common form of muscular dystrophy in adults, affecting an estimated 10 per 100,000 people. It is a multisystemic disorder affecting multiple generations with increasing severity.
Libby Wood, Guillaume Bassez, Corinne Bleyenheuft, Craig Campbell, Louise Cossette, Aura Cecilia Jimenez-Moreno, Yi Dai, Hugh Dawkins, Jorge Alberto Diaz Manera, Celine Dogan, Rasha el Sherif, Barbara Fossati, Caroline Graham, James Hilbert, Kristinia Kastreva, En Kimura, Lawrence Korngut, Anna Kostera-Pruszczyk, Christopher Lindberg, Bjorn Lindvall, Elizabeth Luebbe, Anna Lusakowska, Radim Mazanec, Giovani Meola, Liannna Orlando, Masanori P. Takahashi, Stojan Peric, Jack Puymirat, Vidosava Rakocevic-Stojanovic, Miriam Rodrigues, Richard Roxburgh, Benedikt Schoser, Sonia Segovia, Andriy Shatillo, Simone Thiele, Ivailo Tournev, Baziel van Engelen, Stanislav Vohanka, Hanns Lochmüller   +38 more
doaj   +1 more source

Generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy (CBRCULi012-A and CBRCULi013-A) and Age-Matched controls (CBRCULi010-A and CBRCULi011-A)

Stem Cell Research, 2023
Congenital myotonic dystrophy (CDM) is an autosomal dominant multisystemic disorder attributed to a large expansion of CTG trinucleotide repeats within the myotonic dystrophy protein kinase (DMPK) gene.
Thiéry De Serres-Bérard, Dominic Jauvin, Jack Puymirat, Mohamed Chahine   +3 more
doaj   +1 more source

Steinert's syndrome presenting as anal incontinence: a case report

Journal of Medical Case Reports, 2011
Introduction Myotonic dystrophy (MD) or Steinert's syndrome is a rare cause of chronic diarrhea and anal incontinence. In the presence of chronic diarrhea and fecal incontinence with muscle weakness, neuromuscular disorders such as myotonic dystrophy ...
Uzum Ayse, Toros Ahmet, Erdenen Fusun, Sacak Sirin   +3 more
doaj   +1 more source

Assessment of the Use of Non-Pharmacological Methods for Managing Depression in Patients with Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD) [PDF]

, 2018
Background: Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are two types of muscular dystrophies with multi-system manifestations.
Miller, Kimberly, Parkhill, Amy L., Roberts, Mackenzie, Skalla, Deidre   +3 more
core   +1 more source

Tibialis anterior muscle needle biopsy and sensitive biomolecular methods: A useful tool in myotonic dystrophy type 1 [PDF]

, 2015
Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by a CTG repeat expansion in 3\u2019UTR of DMPK gene. This mutation causes accumulation of toxic RNA in nuclear foci leading to splicing misregulation of specific genes. In view of future
Cardani, Rosanna, Costa, E., Cuomo, G., Fossati, B., Iachettini, Sara, Marchesi, Andrea, Meola, G., Perfetti, A., Vaienti, L., Valaperta, R.   +9 more
core   +3 more sources