Results 171 to 180 of about 1,197,836 (289)

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Assessing the value of health information exchange organizations to hospital interoperability. [PDF]

Health Aff Sch
Richwine C, Strawley C, Chang W, Everson J.   +3 more
europepmc   +1 more source

Minnesota Hospitals’ Plans for Implementing Statewide Guidance on Allocation of Scarce Critical Care Resources During the COVID-19 Pandemic

Mayo Clinic Proceedings: Innovations, Quality & Outcomes
Objectives: To assess hospitals’ plans for implementing Minnesota’s statewide guidance for allocating scarce critical care resources during the COVID-19 pandemic.
Kirsten A. Riggan, MS, MA, Sarah Kesler, MD, Debra DeBruin, PhD, Susan M. Wolf, JD, Jonathon P. Leider, PhD, Nneka Sederstrom, MPH, PhD, Jeffrey Dichter, MD, Erin S. DeMartino, MD   +7 more
doaj  

Evaluating the implementation of maternal safety bundles for obstetric hemorrhage and severe hypertension during pregnancy in Arkansas. [PDF]

BMC Pregnancy Childbirth
Peng C, Acharya M, Khattab B, Callaghan-Koru JA, Brown D, Perkins R, Eswaran H.   +6 more
europepmc   +1 more source

Discontinuation of Immunotherapy in Patients With Relapsing Myelitis Without AQP4/MOG Antibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study assesses the outcomes of immunotherapy discontinuation in patients with relapsing seronegative idiopathic myelitis (SIM), a condition that remains uninvestigated due to its rarity. We reviewed records from 77 patients with relapsing SIM at the National Cancer Center of Korea, focusing on 11 who discontinued treatment after a median ...
Ki Hoon Kim, You‐Ri Kang, Jae‐Won Hyun, Su‐Hyun Kim, Ho Jin Kim   +4 more
wiley   +1 more source

Comparison of Medicaid financing for birth centers: a nine-state policy analysis. [PDF]

Front Health Serv
Ofrane RH, Kantor L, Blumenfeld J, Rokicki S.   +3 more
europepmc   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

Anticipated effects of centralising complex gastrointestinal surgery in a rural area in Germany - perspective of health professionals: a qualitative study. [PDF]

BMC Health Serv Res
Kugler CM, Gretschel S, Scharfe J, Pfisterer-Heise S, Mantke R, Pieper D.   +5 more
europepmc   +1 more source

Patient Selection in Deep Brain Stimulation: A Role for Transcranial Direct Current Stimulation to Enhance the Levodopa Challenge?

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dopaminergic medication and deep brain stimulation (DBS) improve motor symptoms in Parkinson's disease (PD), but levodopa response alone may not predict DBS outcomes. We retrospectively analyzed 19 PD patients undergoing levodopa challenges with and without prior transcranial direct current stimulation targeting a defined PD response network ...
Lukas L. Goede, Patricia Zvarova, Bahne H. Bahners, Andreas Horn   +3 more
wiley   +1 more source

CSF Biomarker‐Based Cognitive Trajectories in Parkinson's Disease‐Subjective Cognitive Decline

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive complaints without objective cognitive impairment in Parkinson's Disease, termed Parkinson's Disease‐Subjective Cognitive Decline (PD‐SCD), have been associated with cognitive decline. However, its progression is heterogeneous, highlighting the need for improved identification of patients at greater risk for deterioration ...
Jon Rodriguez‐Antiguedad, Arnau Puig‐Davi, Iñigo Ruíz‐Barrio, Javier Pagonabarraga, Anna Vázquez‐Oliver, Andrea Horta‐Barba, Jaime Kulisevsky, Saül Martínez‐Horta   +7 more
wiley   +1 more source