Results 61 to 70 of about 31,854 (258)

Critical mistakes in managing chronic constipation in the older person and how to avoid them: A narrative review

Journal of General and Family Medicine, EarlyView.
Abstract Objectives This narrative review identifies pitfalls in managing constipation in older adults and provides evidence‐based recommendations to avoid them. Methods A selective literature search was conducted across electronic databases (PubMed, MEDLINE, Embase, and Cochrane Library) to identify relevant publications on constipation management in ...
Madunil Niriella, Hiruni Jayasena, Prathibha Wijesingha, Janaka de Silva   +3 more
wiley   +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

Consensus-based care recommendations for adults with myotonic dystrophy type 1 [PDF]

, 2018
Purpose of review Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects between 1 in 3,000 and 8,000 individuals globally.
Angeard, Nathalie, Ashizawa, Tetsuo, Bassez, Guillaume, Berggren, Kiera N, Bhakta, Deepak, Bozzali, Marco, Broderick, Ann, Byrne, Janice L B, Campbell, Craig, Cup, Edith, Day, John W, De Mattia, Elisa, Duboc, Denis, Duong, Tina, Eichinger, Katy, Ekstrom, Anne-Berit, Esparis, Belen, Eymard, Bruno, Ferschl, Marla, Gadalla, Shahinaz M, Gagnon, Cynthia, Gallais, Benjamin, Goodglick, Todd, Groh, William J, Gutmann, Laurie, Heatwole, Chad, Hilbert, James, Holland, Venessa, Johnson, Nicholas E, Kierkegaard, Marie, Koopman, Wilma J, Lane, Kari, Maas, Daphne, Mankodi, Ami, Mathews, Katherine D, Meola, Giovanni, Monckton, Darren G, Moser, David, Moxley, Richard, Nazarian, Saman, Nguyen, Linda, Nopoulos, Peg, Pandya, Shree, Petty, Richard, Phetteplace, Janel, Puymirat, Jack, Raman, Subha, Richer, Louis, Rogers, Mark T, Roma, Elisabetta, Sampson, Jacinda, Sansone, Valeria, Schoser, Benedikt, Simpson, Ericka, Statland, Jeffrey, Sterling, Laurie, Subramony, S H, Tian, Cuixia, Tomaselli, Gordon, Trujillo, Careniña, Turner, Chris, van Engelen, Baziel, Venance, Shannon, Verma, Aparajitha, White, Molly, Winblad, Stefan   +65 more
core   +5 more sources

Exploration of Neurodegenerative Diseases Using Long‐Read Sequencing and Optical Genome Mapping Technologies

Movement Disorders, EarlyView.
Abstract Genetic factors play a central role in neurodegenerative disorders. Over the past few decades, significant progress has been made in identifying the causative genes of numerous monogenic disorders, largely due to the widespread adoption of next‐generation sequencing (NGS) technologies in both research and clinical settings.
Guillaume Cogan, Kensuke Daida, Cornelis Blauwendraat, Kimberley Billingsley, Alexis Brice   +4 more
wiley   +1 more source

Repeat Expansions with Small TTTCA Insertions in MARCHF6 Cause Familial Myoclonus without Epilepsy

Movement Disorders, EarlyView.
Abstract Background Familial adult myoclonus epilepsy (FAME) is a rare autosomal dominant disorder caused by the same intronic TTTTA/TTTCA repeat expansion in seven distinct genes. TTTTA‐only expansions are benign, whereas those containing TTTCA insertions are pathogenic.
Theresa Kühnel, Elsa Leitão, Renate Lunzer, Fabian Kilpert, Sabine Kaya, Claudia Del Gamba, Kelly Astudillo, Steven Frucht, Marion Simonetta‐Moreau, Eric Bieth, Iris Unterberger, Giulietta Maria Riboldi, Christel Depienne   +12 more
wiley   +1 more source

New insight into genetic disease : the role of trinucleotide repeat expansions [PDF]

, 1995
The development of genetics in the last few decades is replete with surprise phenomena and new findings. One such phenomenon is the trinucleotide repeat expansion, a new type of mutation first discovered in 1991.
Cuschieri, Alfred
core  

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

Genetic Risk Factors in Normal Pressure Hydrocephalus: What We Know and What Is Next

Movement Disorders, EarlyView.
Abstract Knowledge of the genetic factors in normal pressure hydrocephalus (NPH) is rapidly evolving, with significant advances in recent years. We conducted a systematic review examining genetic contributions to NPH risk. Ovid Embase, Ovid Medline, Web of Science, and Cochrane Central were searched from inception through October 14, 2024, for human ...
Camila C. Piccinin, Saar Anis, Jeryl Ritzi T. Yu, Philippe A. Salles, Henry Mauricio Chaparro‐Solano, Avery Kundrick, Shelley Ivary, James Y. Liao, Sean J. Nagel, Ignacio F. Mata   +9 more
wiley   +1 more source

Obstructive Sleep Apnea Treatment with Oral Appliance in a Myotonic Dystrophy Type I Subject: A Case Report

Sleep Science, 2023
Objective to report a myotonic dystrophy type 1 (MD1) subject with obstructive sleep apnea syndrome treated with oral appliance.
Maria de Lourdes Rabelo Guimarães, Milena Carvalho Tourino Ribeiro, Thiago Antunes da Silva Barbosa, Laila Gabriela de Figueiredo Costa, Patricia Souza Bastos   +4 more
doaj   +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