Results 201 to 210 of about 36,538 (290)

A National Assessment of the Newborn Screening Workforce for Metabolic Conditions, Phase Two Report [PDF]

, 2012
McGrath, Robert J., Stransky, Michelle L.   +1 more
core   +1 more source

Differences in IgG Sialylation Distinguish Asymptomatic from Symptomatic Anti‐Nuclear Antibody Positive Individuals

Arthritis &Rheumatology, Accepted Article.
Objective The transition from asymptomatic anti‐nuclear antibody (ANA) positivity to systemic autoimmune rheumatic disease (SARD) is associated with increased production of pro‐inflamamtory factors such as TNF‐α. Here we investigate whether the relative absence of inflammation in asymptomatic ANA+ individuals (ANA+NS) results from a lack of circulating
Carolina Muñoz‐Grajales, Carmen C. Ucciferri, Sindhu R. Johnson, Zahi Touma, Zareen Ahmad, Dennisse Bonilla, Linda T. Hiraki, Arthur Bookman, Joan E. Wither   +8 more
wiley   +1 more source

The changing epidemiology of paediatric childhood asthma and allergy in different regions of the world. [PDF]

Front Allergy
Adamko DJ, Hildebrand KJ.
europepmc   +1 more source

Prognostic value of lupus anticoagulant and anti‐β2 glycoprotein I antibody in adverse pregnancy outcomes.

Arthritis &Rheumatology, Accepted Article.
Objective International criteria for antiphospholipid syndrome (APS) include lupus anticoagulant (LA), anticardiolipin (aCL) immunoglobulin (Ig) G and IgM, and anti‐β2‐glycoprotein I (β2GPI) IgG and IgM. However, evidence supporting their prognostic value or treatment efficacy in improving live birth rates is limited.
Megumi Nonobe, Takahiro Otani, Hiroyuki Yoshihara, Shinobu Goto, Tamao Kitaori, Naomi Nishikawa, Yuichiro Fujieda, Tatsuya Atsumi, Mayumi Sugiura‐Ogasawara   +8 more
wiley   +1 more source

Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network, helping Brazil and Latin America to identify patients with lysosomal storage diseases. [PDF]

J Community Genet
Trapp FB, Riegel M, Michelin-Tirelli K, da Silva LAL, Iop GD, Bender-Pasetto F, Sebastião FM, da Silva Moraes I, Lopes FF, Dos Santos ORT, da Rosa Pereira F, Silva LP, Luiz AA, da Silva CA, Lucas KDP, Netto ABO, Brasil CS, Leistner S, Brusius-Facchin AC, Deon M, Civallero GES, Giugliani R.   +21 more
europepmc   +1 more source

Serum cytokine profiling differentiates underlying diseases in cytokine storm syndrome

Arthritis &Rheumatology, Accepted Article.
Objective Cytokine storm syndrome (CSS), commonly associated with hemophagocytic lymphohistiocytosis (HLH), is a fatal hyperinflammatory syndrome. Differentiating the underlying diseases responsible for CSS is essential for timely therapeutic decisions. This study explored the clinical usefulness of serum cytokine profiling in distinguishing underlying
Shuya Kaneko, Maho Hatano, Asami Shimbo, Futaba Miyaoka, Hitoshi Irabu, Yuko Akutsu, Yuko Hayashi, Mao Mizuta, Yasuo Nakagishi, Keiji Akamine, Naomi Iwata, Kenji Furuno, Takayuki Tanaka, Kazuyuki Ueno, Shuhei Fujita, Koji Yokoyama, Toshinori Minato, Kazushi Izawa, Takahiro Yasumi, Tadashi Matsubayashi, Tadashi Hosoya, Hiroki Nishikawa, Junya Fujimura, Ryoko Asano, Yuko Sugita, Kenichi Watanabe, Anna Kobayashi, Takuya Endo, Katsuhide Eguchi, Ryuta Nishikomori, Ryuhei Yasuoka, Takaki Asano, Miyako Kanno, Kazuya Hamada, Yuji Fujita, Daisuke Hayashi, Shojiro Watanabe, Takeshi Shiba, Shinsuke Yasuda, Masaaki Mori, Hirokazu Kanegane, Masatoshi Takagi, Masaki Shimizu   +42 more
wiley   +1 more source

Neurological manifestations in an adult with phenylketonuria. [PDF]

Arch Med Sci
Sochań P, Białobrzewski M, Sochań PJ, Domitrz I.   +3 more
europepmc   +1 more source

The Association Between Maternal Asthma and Child Autism: A Systematic Review and Meta‐Analysis

Autism Research, EarlyView.
ABSTRACT Maternal asthma has been linked to child autism. In this study, we systematically reviewed observational studies published between July 2001 and February 2024 that assessed maternal asthma during pregnancy (exposure) and child autism (outcome). Databases searched included MEDLINE, CINAHL, EMBASE, and PsycINFO.
Renee van der Schaaf, Vanessa E. Murphy, Soriah Harvey, Paige Dent, Alison Lane, Olivia Whalen   +5 more
wiley   +1 more source

Inverting the Dominant Paradigm: Looking for Psychiatric Disorders in People With Metabolic Diseases. [PDF]

Biol Psychiatry Glob Open Sci
Ford JM.
europepmc   +1 more source

Protein‐Altering Variants' Analysis in Autism Subgroups Uncovers Early Brain‐Expressed Gene Modules Relevant to Autism Pathophysiology

Autism Research, EarlyView.
ABSTRACT Understanding the functional implications of genes' variants in autism heterogeneity is challenging. Gene set analysis examines the cumulative effect of multiple functionally converging genes. Here we explored whether a multi‐step analysis could identify gene sets with different loads of protein‐altering variants (PAVs) between two subgroups ...
Gaia Scaccabarozzi, Luca Fumagalli, Maddalena Mambretti, Roberto Giorda, Marco Villa, Silvia Busti Ceccarelli, Laura Villa, Elisa Mani, Maria Nobile, Massimo Molteni, Uberto Pozzoli, Alessandro Crippa   +11 more
wiley   +1 more source