Results 231 to 240 of about 524,540 (290)

Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment

Teresa Hoi-Yee Wu, Heather A. Brown, Heather J. Church, Christopher J. Kershaw, Rebekah Hutton, Christine Egerton, James A. Cooper, Karen Tylee, Rebecca N. Cohen, David Gokhale, Dipak Ram, Georgina Morton, Michael W. Henderson, Brian Bigger, Simon Jones   +14 more
openalex   +1 more source

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa, Alexandre Rodrigues Ferreira, Adriana Teixeira Rodrigues, Rodrigo Rezende Arantes, Thais Costa Nascentes Queiroz, Elisa de Carvalho, Gilda Porta, Irene Kazue Miura, Maria Tereza Galvão Guiotti, Rafaella Karen Sousa Monterlei, Adriana Maria Alves de Tommaso, Gabriel Hessel, Maria Ângela Bellomo‐Brandão, Roberta Vacari de Alcantara, Maria Julia Rodrigues Teixeira de Araujo, Daniela Góis Meneses, Regina Sawamura, Cibele Dantas Ferreira Marques, Lucas Rocha Alvarenga, Marise Helena Cardoso Tofoli, Ana Cristina Vieira de Melo, Jussara Melo de Cerqueira Maia, Leticia Helena Caldas Lopes, Eleonora Druve Tavares Fagundes   +23 more
wiley   +1 more source

Elevated Blood Pressure in Newborns From Hypertensive Disorders of Pregnancy During the Immediate Postnatal Period. [PDF]

J Clin Hypertens (Greenwich)
Freel CI, Bavari AE, Mauch TJ, Hanson CK, Mishra PK, Anderson-Berry AL.   +5 more
europepmc   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Primary Care Providers' Perspectives of Knowledge and Skill Acquisition, and Benefits Following University Faculty-Led Continuing Medical Education Sessions: Results of a Qualitative Assessment in Southwest Uganda. [PDF]

Cureus
Mulogo E, Ntaro M, Turyakira E, Matte M, Wesuta A, Mwebembezi F, Agaba F, Nabimanya P, Tushabe A, Kawungezi P.   +9 more
europepmc   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Newborn Screening for Hemoglobinopathies and Thalassemias: Brief History, Recent Activities, and Global Status-2026. [PDF]

Int J Neonatal Screen
Therrell BL.
europepmc   +1 more source

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales, Kathleen Shields, Meagan Choates, Paul Hillman, Laura Farach, Theresa Wittman, Kathryn Leal   +6 more
wiley   +1 more source

Pathways of change for essential newborn care practices and health care seeking: a process evaluation of Mamás del Río, a community-based, maternal and neonatal health intervention in the Peruvian Amazon. [PDF]

Health Policy Plan
Reinders S, Blas MM, Alva A, Huicho L, Ronsmans C, Lange IL.   +5 more
europepmc   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source