Results 81 to 90 of about 71,442 (257)

Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns

Journal of Clinical Laboratory Analysis, EarlyView.
Among 99 asymptomatic newborns with abnormal low‐resolution chromosomal microarray (LR‐CMA) screening, 70.7% harbored microduplication/microdeletions with syndromic implications. However, only a minority exhibited developmental concerns during early follow‐up, highlighting the need for cautious interpretation.
Naye Choi, Hwa Young Kim, Jung Min Ko
wiley   +1 more source

FDA Approves Eteplirsen for Duchenne Muscular Dystrophy: The Next Chapter in the Eteplirsen Saga

Nucleic Acid Therapeutics, 2017
Eteplirsen, a phosphorodiamidate morpholino antisense oligonucleotide (PMO) that modulates splicing to treat Duchenne muscular dystrophy (DMD) patients, received accelerated approval by Food and Drug Administration (FDA) on September 19, 2016 [1].
A. Aartsma-Rus, A. Krieg
semanticscholar   +1 more source

Expanding the Differential Diagnosis of Ultrasonographic Flexor Digitorum Profundus–Flexor Carpi Ulnaris Dissociation of Echogenicity: Muscular Dystrophies

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Dissociation of echogenicity of the flexor digitorum profundus (FDP) and flexor carpi ulnaris (FCU) on neuromuscular ultrasound has been reported to be a useful sign to differentiate inclusion body myositis (IBM) from more common disease mimics, but it is not clear that this finding is pathognomonic of IBM. Our study aimed to
Anson W. Wilks, Nizar Chahin
wiley   +1 more source

Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report

Journal of Medical Case Reports, 2011
Introduction Diamond-Blackfan anemia and Duchenne muscular dystrophy are two rare congenital anomalies. Both anomalies occurring in the same child is extremely rare.
Kaur Jasmeet, Sharma Sanjeevan, Sharma Ajay, Das Satyaranjan, Nair Velu, Mishra DK   +5 more
doaj   +1 more source

Establishing a telerehabilitation program for patients with Duchenne muscular dystrophy in the COVID-19 pandemic

Wiener Klinische Wochenschrift, 2020
Duchenne muscular dystrophy is a genetic disease characterized by gradual loss of motor function, respiratory failure and cardiomyopathy. During the time of the global coronavirus pandemic, maintenance of social distancing and self-isolation might ...
Agnieszka Sobierajska-Rek, Łukasz Mański, Joanna Jabłońska-Brudło, K. Śledzińska, Aleksandra Ucińska, J. Wierzba   +5 more
semanticscholar   +1 more source

Recurrent drought amplifies drought impacts and increases seasonal synchrony in mountain grassland communities

Oikos, EarlyView.
Climate change increases the recurrence of drought events with strong repercussions on grassland ecosystems. While the effects of single drought events on ecosystem structure and functioning are well understood, it is largely unknown whether and how recurrent drought events modify ecosystem responses to subsequent drought.
Lena M. Müller, Michael Bahn, Maximillian Weidle, Georg Leitinger, Dina in 't Zandt   +4 more
wiley   +1 more source

Variability and trends in corticosteroid use by male United States participants with Duchenne muscular dystrophy in the Duchenne Registry

BMC Neurology, 2019
Background Treatment options for Duchenne muscular dystrophy remain limited, although consensus treatment guidelines recommend corticosteroid use. Methods This retrospective analysis assessed corticosteroid use in ambulatory and nonambulatory US males ...
Leslie Cowen, Maria Mancini, Ann Martin, Ann Lucas, Joanne M. Donovan   +4 more
doaj   +1 more source

Quantitative MRI Findings and Their Relationship to Muscle Histopathology and Ambulatory Clinical Function in Duchenne Muscular Dystrophy. [PDF]

J Cachexia Sarcopenia Muscle
ABSTRACT Background Iterative decomposition of water and fat with echo asymmetry and least‐squares estimation quantitation (IDEAL‐IQ), a quantitative 6‐point Dixon magnetic resonance imaging (MRI) sequence, has been increasingly used for quantifying muscle fat fraction (FF) in neuromuscular disorders.
Lu Y, Yin L, Liu C, Yuan Q, Xie Z, Liao J, Chen S, Gang Q, Zhao Y, Meng L, Zhang W, Xiao J, Wang Z, Yuan Y, Xie Z.   +14 more
europepmc   +2 more sources

The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review

Orphanet Journal of Rare Diseases, 2017
BackgroundDuchenne Muscular Dystrophy (DMD) is a rapidly progressive, lethal neuromuscular disorder, present from birth, which occurs almost exclusively in males. We have reviewed contemporary evidence of burden, epidemiology, illness costs and treatment
S. Ryder, R. Leadley, N. Armstrong, M. Westwood, S. D. Kock, T. Butt, Mohit J. Jain, J. Kleijnen   +7 more
semanticscholar   +1 more source

Shifts in phenology influence synchrony of flowering plants and their pollinators along an elevation gradient

Oikos, EarlyView.
Climatic conditions alter the phenology of species, which may threaten the synchrony of biotic interactions. However, how phenological synchrony across entire communities of plants and their pollinators responds to varying environmental conditions remains poorly understood.
Mikko Tiusanen, Anna Norberg, Anna‐Liisa Laine   +2 more
wiley   +1 more source