Results 171 to 180 of about 40,635 (255)

Urodynamic Voiding Patterns in Multiple Sclerosis

Neurourology and Urodynamics, EarlyView.
ABSTRACT Aims This study aimed to describe urodynamic voiding patterns in patients with MS (PwMS) using standardized assessments, and to compare the performance of the available nomograms and indices for obstruction and bladder contractility. Methods PwMS and lower urinary tract symptoms underwent cystometry and pressure flow studies.
Camille Chesnel, Nicolas Turmel, Maelys Teng, Emilie Blouet, Gérard Amarenco, Claire Hentzen   +5 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

Acetylcholine receptor antibody-positive myasthenia gravis and Kennedy's disease overlap syndrome: a case report and literature review. [PDF]

Front Immunol
Gao GH, Xu YQ, Liu YD, Liu Y, Yuan J.
europepmc   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

Patient reported outcome measures in spinal muscular atrophy and duchenne muscular dystrophy: review of instruments and their inclusion in clinical and regulatory processes. [PDF]

Neurol Sci
Malandrini F, Spataro C, Meregaglia M, Sansone V, D'amico A, Scopinaro A, Ciani O.   +6 more
europepmc   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum, Catherine Lee, Tippi MacKenzie, Billie Lianoglou, Agnieszka Czechowicz   +4 more
wiley   +1 more source

Using wearable sensors during the timed up and go and 6-minute walk test in Spinal Bulbar Muscular Atrophy. [PDF]

PLOS Digit Health
Doreswamy K, Roberts H, Kokkinis A, Joe G, Alqahtani A, Grunseich C, Jain M.   +6 more
europepmc   +1 more source

Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal sequencing of fetuses with abnormalities detected on imaging is expanding globally. Debate continues over whether variants of uncertain significance (VUS) should be reported prenatally, with some recent national position statements opposing this.
A. Gibbs, R. Braham, V. Ramachandran, R. Roberts, C. Willison, T. Ashraf, J. Cobben, A. Gardham, M. Holder‐Espinasse, T. Homfray, S. G. Mehta, D. Tapon, P. Vasudevan, N. J. Chandler   +13 more
wiley   +1 more source

Haloperidol induces neuroprotection and enhances neuromuscular function in both murine and human models of spinal muscular atrophy. [PDF]

Exp Mol Med
Menduti G, Perez-Gomez R, Berenger-Currias N, Ruatti C, Espinosa-Espinosa J, Januel C, Konieczny P, Artero R, Martinat C, Boido M.   +9 more
europepmc   +1 more source