Results 21 to 30 of about 3,074,878 (364)

Phenotypic continuum of NFU1‐related disorders

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022
Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian   +45 more
wiley   +1 more source

Well/Ill-posedness of the Boltzmann Equation with Soft Potential [PDF]

Communications in Mathematical Physics 405 (2024), Article 283, 1-51, 2023
We consider the Boltzmann equation with the soft potential and angular cutoff. Inspired by the methods from dispersive PDEs, we establish its sharp local well-posedness and ill-posedness in $H^{s}$ Sobolev space. We find the well/ill-posedness separation at regularity $s=\frac{d-1}{2}$, strictly $\frac{1}{2}$-derivative higher than the scaling ...
arxiv   +1 more source

The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1941-1952, December 2022., 2022
Abstract Objective The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) and to determine if aberrant cellular ceramide accumulation could be normalized by enzyme replacement.
Michelle M. Lee, Graeme S. V. McDowell, Darryl C. De Vivo, Daniel Friedman, Samuel F. Berkovic, Maria Spanou, Argirios Dinopoulos, Katheryn Grand, Pedro A. Sanchez‐Lara, Michelle Allen‐Sharpley, Jodi Warman‐Chardon, Alexander Solyom, Thierry Levade, Edward H. Schuchman, Steffany A. L. Bennett, David A. Dyment, Toni S. Pearson   +16 more
wiley   +1 more source

SNAPPE II: ANALYSIS OF ACCURACY AND DETERMINATION OF THE CUTOFF POINT AS A DEATH PREDICTOR IN A BRAZILIAN NEONATAL INTENSIVE CARE UNIT

Revista Paulista de Pediatria, 2020
Objective: To analyze the accuracy of the Score for Neonatal Acute Physiology Perinatal Extension (SNAPPE II) as a death predictor, to determine the cutoff point for mortality, and to analyze the association of independent variables with death. Methods:
Maria Marcia Farias Trajano Fontenele, Cristiana Ferreira Silva, Álvaro Jorge Madeiro Leite, Eveline Campos Monteiro Castro, Francisco Herlânio Costa Carvalho, Ana Valeska Siebra e Silva   +5 more
doaj   +2 more sources

COVID‐19 and the risk of Alzheimer's disease, amyotrophic lateral sclerosis, and multiple sclerosis

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1953-1961, December 2022., 2022
Abstract Background The coronavirus disease 2019 (COVID‐19) pandemic has had an unprecedented impact on the healthcare system, economy, and society. Studies have reported that COVID‐19 may cause various neurologic symptoms, including cognitive impairment.
Hanyu Zhang, Zengyuan Zhou
wiley   +1 more source

Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1999-2009, December 2022., 2022
Abstract Objectives Metachromatic leukodystrophy (MLD) has characteristic white matter (WM) changes on brain MRI, which often trigger biochemical and genetic confirmation of the diagnosis. In early or pre‐symptomatic disease stages, these typical MRI changes might be absent, hampering early diagnosis.
Daphne H. Schoenmakers, Shanice Beerepoot, Ingeborg Krägeloh‐Mann, Saskia Elgün, Benjamin Bender, Marjo S. van der Knaap, Nicole I. Wolf, Samuel Groeschel   +7 more
wiley   +1 more source

Influence of disease activity on functional capacity in patients with rheumatoid arthritis [PDF]

Vojnosanitetski Pregled, 2015
Background/Aim. Progressive erosive changes in cartilage and bone in rheumatoid arthritis (RA) ultimately lead to joint deformities and disability which may be early, severe and permanent.
Jovanović Jelena, Stojanović Miodrag, Jovanović Vladimir, Dimić Aleksandar, Božilov Slađana, Stamenković Bojana, Milenković Saša   +6 more
doaj   +1 more source

Colonization by S. Aureusincreases the EASI and the number of appointments by patients with atopic dermatitis: cohort with 93 patients [PDF]

Anais Brasileiros de Dermatologia, 2013
BACKGROUND:Atopic dermatitis leads to epidermal barrier dysfunction and bacteria colonization. The relationship of the last factor with the severity of the disease and the frequency of exacerbation is not fully known.OBJECTIVES:Verify the severity of the
Caroline Lipnharski, Pedro Alves d'Azevedo, Vanessa Petry Quinto, Giancarlo Bessa, Renan Rangel Bonamigo   +4 more
doaj   +1 more source

Body mass index in the middle-aged offspring of parents with severe mental illness

Psychological Medicine, 2022
AbstractBackgroundPeople with severe mental illness (SMI) have an elevated risk of obesity but the causes and mechanisms are unclear. We explored the familial association between parental SMI and body mass index (BMI) in middle-aged offspring. Our objective was to determine if the offspring of either parent with SMI have an increased risk for obesity ...
Maria Protsenko, Martta Kerkelä, Jouko Miettunen, Juha Auvinen, Marjo-Riitta Järvelin, Peter B. Jones, Mika Gissler, Juha Veijola   +7 more
openaire   +3 more sources

Factor structure of the autonomy preference index in people with severe mental illness [PDF]

Psychiatry Research, 2015
People vary in the amount of control they want to exercise over decisions about their healthcare. Given the importance of patient-centered care, accurate measurement of these autonomy preferences is critical. This study aimed to assess the factor structure of the Autonomy Preference Index (API), used widely in general healthcare, in individuals with ...
Bonfils, Kelsey A., Adams, Erin L., Mueser, Kim T., Wright-Berryman, Jennifer L., Salyers, Michelle P.   +4 more
openaire   +3 more sources