Results 21 to 30 of about 1,149,113 (317)

Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency

Orphanet Journal of Rare Diseases, 2021
Background Adenylosuccinate lyase deficiency (ADSLD) is an ultrarare neurometabolic recessive disorder caused by loss-of-function mutations in the ADSL gene. The disease is characterized by wide clinical variability.
Gerarda Mastrogiorgio, Marina Macchiaiolo, Paola Sabrina Buonuomo, Emanuele Bellacchio, Matteo Bordi, Davide Vecchio, Kari Payne Brown, Natalie Karen Watson, Benedetta Contardi, Francesco Cecconi, Marco Tartaglia, Andrea Bartuli   +11 more
doaj   +1 more source

Cannabis, connectivity, and coming of age: Associations between cannabis use and anterior cingulate cortex connectivity during the transition to adulthood

Frontiers in Human Neuroscience, 2022
Cannabis use is common among adolescents and emerging adults and is associated with significant adverse consequences for a subset of users. Rates of use peak between the ages of 18–25, yet the neurobiological consequences for neural systems that are ...
Sarah D. Lichenstein, Daniel S. Shaw, Erika E. Forbes   +2 more
doaj   +1 more source

Advancing pharmacogenomic research in US Hmong populations: prevalence of key single nucleotide variations in California Hmong

Frontiers in Pharmacology
IntroductionIn collaboration with the Minnesota Hmong community, we have previously discovered significant differences in allele frequencies for key Single Nucleotide Variations (SNVs) within Very Important Pharmacogenes (VIPs) between Hmong and East ...
Boguang Sun, Tou Thao, Kathleen Culhane-Pera, Eric Yang, Mai Yang Thor, Pao Yang, Metta Xiong, Zoua Vang, Robert J. Straka   +8 more
doaj   +1 more source

Pregnancy denial and early infant development: a case-control observational prospective study

BMC Psychology, 2019
Background The denial of pregnancy is the non-recognition of the state of the current pregnancy by a pregnant woman. It lasts for a few months or for the whole pregnancy, with generally few physical transformations.
Julie Auer, Coralie Barbe, Anne-Laure Sutter, Dominique Dallay, Laurianne Vulliez, Didier Riethmuller, Violaine Gubler, Valérie Verlomme, Stéphanie Saad-Saint-Gilles, Alain Miton, Emmanuelle Tessier, Olivier Parant, Julie Le Foll, Agnès Bourgeois-Moine, Sylvie Viaux, Marc Dommergues, Gisèle Apter, Joëlle Belaisch-Allart, Anne Danion, Israël Nisand, Olivier Graesslin, Alexandre Novo, Julien Eutrope, Anne-Catherine Rolland   +23 more
doaj   +1 more source

Dengue in hospitalized children with sickle cell disease: A retrospective cohort study in the French departments of America

Journal of Infection and Public Health, 2020
Background: To describe the characteristics of dengue in sickle cell children and try to identify risk factors of severity. Methods: In this retrospective study, we describe the evolution according to genotype (SS or SC and controls) and severity ...
Narcisse Elenga, Donald Celicourt, Blandine Muanza, Gisèle Elana, Sévérine Hocquelet, Vanessa Tarer, Frédéric Maillard, Gérard Sibille, Lydia Divialle Doumdo, Marie Petras, Benoit Tressières, Maryse Etienne-Julan   +11 more
doaj   +1 more source

Sickle Cell Disease Is an Inherent Risk for Asthma in a Sibling Comparison Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Sickle cell disease (SCD) and asthma share a complex relationship. Although estimates vary, asthma prevalence in children with SCD is believed to be comparable to or higher than the general population. Determining whether SCD confers an increased risk for asthma remains challenging due to overlapping symptoms and the ...
Suhei C. Zuleta De Bernardis, Okeleji Olayinka, Mariam Z. Quraishi, Lakshmi V. Srivaths, Deborah L. Brown, Neethu M. Menon, Ricardo A. Mosquera, Ashwin P. Patel, James M. Stark, Aravind Yadav   +9 more
wiley   +1 more source

FUT2 secretor genotype and susceptibility to infections and chronic conditions in the ALSPAC cohort [version 2; referees: 2 approved]

Wellcome Open Research, 2018
Background: The FUT2 (fucosyltransferase-2) gene determines blood group secretor status. Being homozygous for the inactive “non-secretor” rs601338(A) allele confers resistance to certain infections (e.g. Norovirus, Rotavirus) and susceptibility to others
Meghan B. Azad, Kaitlin H. Wade, Nicholas J. Timpson   +2 more
doaj   +1 more source

Psychosocial Outcomes in Patients With Endocrine Tumor Syndromes: A Systematic Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction The combination of disease manifestations, the familial burden, and varying penetrance of endocrine tumor syndromes (ETSs) is unique. This review aimed to portray and summarize available data on psychosocial outcomes in patients with ETSs and explore gaps and opportunities for future research and care.
Daniël Zwerus, Floortje Strobbe, Annemarie A. Verrijn Stuart, Hanneke M. van Santen, Gerlof D. Valk, Sasja A. Schepers, Rachel S. van Leeuwaarde   +6 more
wiley   +1 more source

Parental perceptions of the COVID-19 vaccine for 5- to 11-year-old children: Focus group findings from Worcester Massachusetts

Human Vaccines & Immunotherapeutics, 2022
Vaccine hesitancy is a long-standing public health issue. The present work describes parental perceptions of COVID-19 vaccination for 5- to 11-year-old children, to aid in vaccination efforts.
Melissa Goulding, Grace W. Ryan, Princilla Minkah, Amy Borg, Maricelis Gonzalez, Nelly Medina, Pamela Suprenant, Milagros C. Rosal, Stephenie C. Lemon   +8 more
doaj   +1 more source

Nutritional and Behavioral Intervention for Long‐Term Childhood Acute Leukemia Survivors With Metabolic Syndrome

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Metabolic syndrome (MetS) is a common complication in survivors of childhood acute lymphoblastic and myeloid leukemia (AL), and a major risk factor for premature cardiovascular disease, type‐2‐diabetes, and metabolic dysfunction‐associated steatotic liver disease (MASLD).
Visentin Sandrine, Béliard Sophie, Renard Cécile, Caussy Cyrielle, Hamidou Zeinab, Romano David, Gacem Mélanie, Petit Arnaud, Saultier Paul, Borentain Patrick, Michel Gérard   +10 more
wiley   +1 more source