Results 151 to 160 of about 343,838 (345)

Asynchrony Related to Mechanical Ventilation Exacerbates Diaphragm Dysfunction in a Mouse Model of Duchenne Muscular Dystrophy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims In dystrophic mice (mdx, a genetic homolog of Duchenne muscular dystrophy: DMD), previous studies showed that mechanical ventilation (MV) induces ventilator‐induced diaphragmatic dysfunction (VIDD). However, susceptibility to mechanical stress caused by asynchrony remains unknown.
Mohamad Yehya, Haikel Dridi, Eric Estève, Johan Moreau, Steven Reiken, Andrew R. Marks, Alain Lacampagne, Stefan Matecki   +7 more
wiley   +1 more source

Congenital Myopathies and Muscular Dystrophies: A Single Tertiary Center Experience and Factors Associated With Long‐Term Outcomes

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu, Margaret McGurn, Susan Iannaccone, Zurisadai Gonzalez Castillo, Kaitlin Batley   +4 more
wiley   +1 more source

With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley   +1 more source

Error Traps in Pediatric Neuromuscular Block

Pediatric Anesthesia, EarlyView.
ABSTRACT Background Neuromuscular blocking agents are essential for safe pediatric anesthesia but remain a frequent source of preventable morbidity when misused, inadequately monitored, or incompletely reversed. Children, particularly neonates and infants, are especially vulnerable to residual neuromuscular block due to developmental pharmacological ...
Gabriel Soares de Sousa, Debra Faulk, Vinicius Caldeira Quintao, Niekoo Abbasian, Hans D. de Boer, Ricardo Vieira Carlos   +5 more
wiley   +1 more source

Unraveling the spatial landscape of dystrophinopathies: a transcriptomic approach to Becker and Duchenne muscular dystrophies

The Journal of Pathology, EarlyView.
Abstract Dystrophinopathies are caused by pathogenic variants in the DMD gene, resulting in partial (Becker) or complete loss (Duchenne) of dystrophin. Becker (BMD) and Duchenne muscular dystrophy (DMD) are characterized by progressive muscle wasting, fatty replacement, fibrosis, and loss of function.
Laura GM Heezen, Qirong Mao, Stefan Nicolau, Claudio Novella Rausell, Julia van der Weerd, Jan Kueckelhaus, Rasya Gokul Nath, Jordi Diaz‐ Manera, Hermien E Kan, Erik H Niks, Maaike van Putten, Annemieke Aartsma‐Rus, Kevin M Flanigan, Ahmed Mahfouz, Pietro Spitali   +14 more
wiley   +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

Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs. [PDF]

, 2017
Inherited retinal dystrophies are an important cause of blindness, for which currently there are no effective treatments. In order to study this heterogeneous group of diseases, adequate disease models are required in order to better understand pathology
Carr, Amanda-Jayne F, Cheetham, Michael E, Chen, Li Li, Coffey, Peter J, da Cruz, Lyndon, J K Smart, Matthew, Moore, Anthony T, Muthiah, Manickam N, Nommiste, Britta, Powner, Michael B, R Lane, Amelia, Ramsden, Conor M, Webster, Andrew R   +12 more
core   +1 more source

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

DNA diagnostic tests in Xp21 dystrophy families for prenatal diagnosis

The Turkish Journal of Pediatrics, 1998
Duchenne and Becker muscular dystrophies are X-linked genetic disorders characterized by dystrophin gene defects. We have studied 250 families with Duchenne and Becker muscular dystrophies (D/BMD) by molecular genetic methods since 1992.
P Dinçer, H Topaloğlu, S Ayter
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