Results 191 to 200 of about 1,525,569 (308)

EHA Recommendations for preconceptual and antenatal screening and prenatal diagnosis for hemoglobinopathies. [PDF]

Hemasphere
de Montalembert M, Cappellini MD, Iolascon A, de Franceschi L, Ömur E, Abi Saad M, Andolfo I, Bento C, Berghs M, Bonnet D, Glenthoj A, Gulbis B, Dolai TK, Lima J, Motta I, Russo R, Taher A, Tshilolo L, Almeida A, Rees D.   +19 more
europepmc   +1 more source

Feasibility and Tolerability of Performing Portable MRI for Neurological Disorders in an Outpatient Neurology Clinic: A Prospective Cohort

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Accessing brain magnetic resonance imaging (MRI) can be challenging, especially for underserved patients, which may lead to disparities in neurological diagnosis. Method This mixed‐methods study enrolled adults with one of four neurological disorders: mild cognitive impairment or dementia of the Alzheimer type, multiple sclerosis ...
Maya L. Mastick, Nomin Enkhtsetseg, Joseph Sadok, Matheus Mochetti, Annabel Sorby Adams, Jennifer Guo, Cristina Trapaga Hacker, Isabella Gomez Hjerthen, Seungwon Lee, Siddharth Satish, Andrew S. Ham, Justin Hill, Denis Balaban, Kevin Kyle, Rebecca L. Gillani, Marcelo Matiello, Aleksandar Videnovic, Eric C. Klawiter, W. Taylor Kimberly, Farrah J. Mateen   +19 more
wiley   +1 more source

Latin American expert opinion paper on the diagnosis and treatment of pulmonary hypertension associated with interstitial lung disease. [PDF]

Front Med (Lausanne)
Lescano A, Pulido Zamudio T, Conde Camacho R, Caro FM, Espitia Hernández G, Fernandes CJCDS, García Cuéllar JA, Zagolín Blancaire M, Zayas Hernández N, Tobón M.   +9 more
europepmc   +1 more source

Structure–Function Decoupling of the Sensorimotor and Default Mode Networks in Black Americans With MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Multiple sclerosis (MS) exhibits racially disparate rates of disease progression. Black people with MS (B‐PwMS) experience a more severe disease course than non‐Hispanic White people with MS (NHW‐PwMS). Here we investigated structural and functional connectivity as well as structure–function decoupling in the ...
Emilio Cipriano, Giacomo Boffa, Maria Petracca, Marta Ponzano, Nicole Graziano, Claire Wigley, Claire Riley, Jonathan Howard, Pietro Bontempi, Sylvia Klineova, Fred Lublin, Matilde Inglese   +11 more
wiley   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Clinical Benefits of the Introduction of the ERAS Protocol in Thyroid Surgery: A Propensity Score Matching Analysis. [PDF]

J Clin Med
Di Filippo G, Mastrangeli S, Gobbo G, Lazzari G, Morelli E, Serbusca D, Mazzola M, Cantaluppi F, Milan B, Polati E, Donadello K, Ruzzenente A.   +11 more
europepmc   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Comparison of primary and secondary stroke outcomes between government and private healthcare institutions: insights from the SPRINT India trial. [PDF]

Front Stroke
Verma SJ, Nanda B, Kaur P, K S AD, Arora D, Dhasan A, Sylaja PN, Khurana D, Pamidimukkala V, Ray BK, Nambiar V, Aaron S, Mittal G, Pai AR, Gorthi SP, Kumaravelu S, Reddy YM, Narayan S, Borah NC, Das R, Kulkarni GB, Huded V, Mathew T, Bhatia R, Ojha PK, Roy J, Vaishnav AG, Sharma A, Pathak A, Bhoi SK, Sharma S, Sulena S, Saroja AO, Ramrakhiani N, Kempegowda MB, Kate M, George T, Sebastian I, Sharma M, Dhaliwal R, Pandian JD.   +40 more
europepmc   +1 more source

Location‐Specific Hematoma Volume Predicts Early Neurological Deterioration in Supratentorial ICH

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Early neurological deterioration (END) adversely affects outcomes in patients with intracerebral hemorrhage (ICH). This study aimed to determine the location‐specific hematoma volumes for END in supratentorial ICH patients. Methods We retrospectively analyzed supratentorial ICH patients presenting from two prospective cohorts.
Zuoqiao Li, Guilin Meng, Zijie Wang, Xiao Hu, Jing Cheng, Chu Chen, Tiannan Yang, Jiaxin Luo, Zizhen Meng, Xueyun Liu, Qi Li   +10 more
wiley   +1 more source