Results 241 to 250 of about 3,970,671 (303)

Childhood Behind Bars: Children and the US Juvenile Legal System. [PDF]

Adv Pediatr
Barnert ES.
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

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Navigating healthcare decision-making for children requiring life-sustaining medical treatment in Ireland: exploring clinician perspectives through the lens of the Irish legal system. [PDF]

BMC Med Ethics
Brenner M, Lombard J, Quirke M, Cassidy L, Alexander D.   +4 more
europepmc   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

The association between age and functional disability in US adults with lifetime exposure to the criminal legal system, 2015-2019. [PDF]

J Affect Disord
Hawks LC, Iregbu S, Walker RJ, Egede LE.
europepmc   +1 more source

Parental Legal System Involvement, Positive Childhood Experiences, and Suicide Risk. [PDF]

Pediatrics
Bravo LG, Meza J, Schiff SJ, Ahmed C, Elliot T, La Charite J, Choi K.   +6 more
europepmc   +1 more source

Screening for STIs among criminal legal system involved youth of color in community settings. [PDF]

Health Justice
Cohall A, Cohall R, Staeheli L, Dolezal C, Campos S, Lee S, O'Grady M, Tross S, Wilson P, Elkington K.   +9 more
europepmc   +1 more source

"Wing leaders" in recovery residences: staff key approaches supporting criminal legal system-involved residents receiving medication for opioid use disorder. [PDF]

Front Public Health
Dewey JM, Tompkins J, Mericle A, Watson DP.   +3 more
europepmc   +1 more source

The consequences of sibling criminal legal system contact for family life. [PDF]

J Marriage Fam
Wakefield S, Baker G, Wildeman C.
europepmc   +1 more source