Results 131 to 140 of about 552,573 (310)

A twin with a novel pathogenic variant in CYBB induced X-linked chronic granulomatous disease: a rare case report of misdiagnosis as congenital cystic lung disease

BMC Pediatrics
Background Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder caused by defects in phagocyte NADPH oxidase. X-linked CGD, resulting from CYBB gene mutations, accounts for approximately two-thirds of cases.
Lin Lin, Zongrong Gong, Genquan Yin, Gen Lu, Junzheng Peng   +4 more
doaj   +1 more source

Peripheral Neutrophil Activation and Extracellular Trap Formation in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
Markers of neutrophil activation are increased in plasma during ALS, and markers of NET formation associate with ALS survival. ABSTRACT Objectives Peripheral neutrophil levels in amyotrophic lateral sclerosis (ALS) inversely correlate with survival, suggesting a role for neutrophils in disease progression.
Lillia A. Baird, Haley McQuown, Jihyun Park, Samuel J. Teener, Ian F. Webber‐Davis, Andrew D. Carter, Dae‐Gyu Jang, Eva L. Feldman, Stephen A. Goutman, Benjamin J. Murdock   +9 more
wiley   +1 more source

Sex‐Stratified Association of Regional Dopamine Transporter Binding With Disease Progression in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To clarify the clinical relevance of dopamine transporter single‐photon emission computed tomography (DAT‐SPECT) abnormalities in amyotrophic lateral sclerosis (ALS), with a prespecified focus on sex‐stratified associations with disease progression and short‐term prognosis.
Tomoya Kawazoe, Keizo Sugaya, Kentaro Hayashi, Keiko Hino, Yasuhiro Nakata, Kota Bokuda, Toshio Shimizu, Kazushi Takahashi   +7 more
wiley   +1 more source

Effect of COVID-19 infection in the third trimester of pregnancy on innate immunity parameters, association with obstetric and perinatal outcomes

Бюллетень сибирской медицины
Aim. To analyze and compare parameters of innate immunity with obstetric and perinatal outcomes in patients with COVID-19 in the third trimester of pregnancy. Materials and methods.
I. A. Andrievskaya, K. S. Lyazgiyan, I. V. Zhukovets, E. M. Ustinov   +3 more
doaj   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

La respiration périodique et la respiration superflue ou de luxe

, 1886
LA RESPIRATION PÉRIODIQUE ET LA RESPIRATION SUPERFLUE OU DE LUXE La respiration périodique et la respiration superflue ou de luxe (5) (-
Mosso, A
core   +1 more source

Phenotypic composition of umbilical blood monocytes and health status of newborns from mothers with COVID-19

Acta Biomedica Scientifica
Background. COVID-19 during pregnancy affects the  development of  inflammatory reactions in the fetus. However, data on the impact of maternal COVID-19 on the phenotypic composition of umbilical blood monocytes in newborns are insufficiently presented ...
I. A. Andrievskaya, K. S. Lyazgiyan, E. M. Ustinov   +2 more
doaj   +1 more source

Prokaryotic respiration and growth in Baltic and north Seas 2017

Data was collected in a project investigating the importance of prokaryotic maintenance respiration in the marine environment. Prokaryotic respiration, growth and abundance was measured at multiple stations encompassing three sites along the Baltic Sea ...
Wikner, Johan,, Vikström, Kevin,, Wikner, Johan, Vikström, Kevin   +3 more
core   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source