Results 141 to 150 of about 6,636,645 (353)

Examining pathways by which socioeconomic instability in adolescence influence sexual health during emerging adulthood in an agricultural setting in California

American Journal of Community Psychology, EarlyView.
Abstract This study investigates the longitudinal impact of socioeconomic instability on teen pregnancy and sexually transmitted infection (STI) diagnosis among adolescents and young adults (AYA) living in an agricultural region and examines pathways including supportive family and social structures, decision making autonomy in romantic relationships ...
Marie C. D. Stoner, Erica N. Browne, Marissa Raymond‐Flesch, Mary Kate Shapley‐ Quinn, Nivedita L. Bhushan, Alondra Jaime‐Aguilar, Carmen Ramirez, Jessica Huante, Daisy Gallardo, Sue Napierala, Megan Comfort, Alexandra M. Minnis   +11 more
wiley   +1 more source

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe, Abbey A. Scott, Lukas Kruidenier, Jessie Conta, Darci L. Sternen, Sarah V. Clowes Candadai, Shannon M. Stasi, Julia Parish‐Morris, Megan Sikes, Margaret P. Adam, Anita E. Beck, Jennifer C. Hayek, Ian Glass, James T. Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M. Dipple, Tara L. Wenger   +22 more
wiley   +1 more source

Language personality’s verbal component structure: the system of basic contexturologemes

Russian Language Studies, 2013
The article studies the specifics of verbal component structure of the synthetic language personality in countercultural linguistic epoch of Russian rock.
D I Ivanov
doaj  

Neuropsychological Characteristics and Quantitative Electroencephalography in Skogholt’s Disease—A Rare Neurodegenerative Disease in a Norwegian Family

Brain Sciences
Members of three generations of a Norwegian family (N = 9) with a rare demyelinating disease were studied. Neuropsychological testing was performed using the Mini Mental Status Examination (MMSE), Wechsler Intelligence Scale-III (WAIS-III), and Hopkins ...
Knut A. Hestad, Jan O. Aaseth, Juri D. Kropotov   +2 more
doaj   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Verbal component of synthetic linguistic personality in russian rock sub-culture

Russian Language Studies, 2014
In the framework of this material we consider the specific features of functioning of slang conceptual codes in the structure of the verbal component of synthetic lingual personality in the space of the subculture epoch of the Russian rock which is a ...
D I Ivanov
doaj  

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Generation of multi-modal dialogue for a net environment [PDF]

, 2002
In this paper an architecture and special purpose markup language for simulated affective face-to-face communication is presented. In systems based on this architecture, users will be able to watch embodied conversational agents interact with each other ...
Baumann, S., Grice, M., Gstrein, E., Klesen, M., Krenn, B., Pirker, H., Piwek, P., Schroeder, M., van Deemter, K.   +8 more
core  

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source