Results 21 to 30 of about 890,254 (268)

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

Are Fertility Preservation Procedures Before Gonadotoxic Therapy and Hematopoietic Stem Cell Transplantation Feasible and Safe in Very Young Children? A Retrospective Cohort Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Fertility preservation (FP) is increasingly integrated into the care of pediatric patients exposed to gonadotoxic therapy or conditioning for hematopoietic stem cell transplantation (HSCT), yet perioperative data in infants and toddlers remain scarce.
Kerstin Saalabian, Yannick Braun, Till‐Martin Theilen, Anke Barnbrock, Theresa Rohm, Fabienne Hammant, Nicole Sänger, Aynura Abbasova‐Semiz, Jan‐Henning Klusmann, Thomas Klingebiel, Udo Rolle, Peter Bader, Henning C. Fiegel, Andrea Jarisch   +13 more
wiley   +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

Guidelines for Pediatric Radiotherapy Simulation: A Report From the Children's Oncology Group Radiation Oncology Discipline

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric radiation therapy presents unique challenges compared to adult treatments, including those of immobilization, potential need for sedation, and the critical importance of accurate, reproducible positioning. Additionally, heightened attention to imaging doses is necessary to minimize long‐term toxicity in survivors.
Parham Alaei, Stephen Mihalcik, Sujith Baliga, Young Kwok, Dana Casey, Eric Ehler, Christiane Burton, John C. Breneman, Daphne A. Haas‐Kogan, Suzanne L. Wolden, Arnold C. Paulino, Nadia N. Laack, Natia Esiashvili, Sarah Milgrom, Christine Hill‐Kayser, Thomas J. Fitzgerald, John A. Kalapurakal, Chia‐Ho Hua   +17 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

Parent Parenting with Aggressiveness [PDF]

Jurnal Counseling Care, 2019
The background of the research is the use of parenting that is wrong from parents to children. The purpose of this research is to look at the relationship between parenting parents and the aggressiveness of students. This type of research is quantitative with a correlation approach.
Nuzliah Jamaluddin, Juli Andriyani
openaire   +1 more source

The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo, Miriam A. Bornhorst, Angela J. Waanders, Sara Zarnegar‐Lumley, Ashwin Lakshman Koppayi, Lucy A. Godley   +5 more
wiley   +1 more source