Results 41 to 50 of about 155,129 (176)

Toileting Problems and Associated Factors in Adults Enrolled in the Global Angelman Syndrome Registry

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Angelman Syndrome (AS) is a rare neurodevelopmental disorder caused by the lack of expression of the UBE3A gene, which can result from abnormalities of the maternally inherited chromosome 15q11‐q13. The purpose of this study is to investigate the most common types of toileting problems in adults with AS and the associated factors of
Emma Walsh, Arlene Mannion, Sally Whelan, Evan Flynn, Megan Tones, Helen Heussler, Matthew Bellgard, Geraldine Leader   +7 more
wiley   +1 more source

A novel splice site mutation in anthrax toxin receptor 2 (Capillary morphogenesis protein 2) gene results in systemic hyalinosis

Indian Journal of Paediatric Dermatology, 2022
Infantile Systemic Hyalinosis, now included under the unifying term, “hyaline fibromatosis syndrome” (HFS) is a rare, progressive and fatal autosomal recessive disorder characterized by various dermatological manifestations such as thickened skin ...
Indhra Priyadharshini, Sirisha Varala, Tallapaka Karthik Bharadwaj, Ananthula Venkata Krishna   +3 more
doaj   +1 more source

Infantile hepatic haemangioendothelioma: a case report [PDF]

, 2004
Infantile haemangioendothelioma is a rare tumour of infancy arising from mesenchymal tissue. The liver is the commonest site for this tumour in children.
L. B. Chirdan, B. M. Mandong, A. F. Uba, F. Bode-Thomas   +3 more
core  

Orchestrated molecular changes of proliferative, migratory‐fibrillar, synaptic, and postmigratory compartments align with precocious cortex‐type specification in the early human pallium

Journal of Anatomy, EarlyView.
Early human cortical development is organized by transient cellular compartments that define cortical types before mature layers form. Analysis of the human fetal pallium (7.5–15 PCW) shows distinct spatiotemporal trajectories for the archicortex, mesocortex, and neocortex, with delayed but accelerated differentiation in allocortical regions.
Janja Kopić, Fran Božić, Alisa Junaković Munjas, Željka Krsnik, Ivica Kostović   +4 more
wiley   +1 more source

Localized, diffuse, and aggregative-adhering Escherichia coli from infants with acute diarrhea and matched-controls

Memorias do Instituto Oswaldo Cruz, 1992
Of 126 infants under 2 years, enrolled in a study on the etiology of acute diarrhea in Recife, Brazil, we selected 37 from whom no recognized enteropathogens, except classic enteropathogenic Escherichia coli, were identified.
Marcelo Magalhães, Rosemary J. M. Amorim, Yoshifumi Takeda, Teizo Tsukamoto, Maria G. Antas, Seiki Tateno   +5 more
doaj   +1 more source

CHENlab-Yale/drought-diarrhea: First release of the public repository for the drought diarrhea paper

, 2022
First release of the public repository for the drought-diarrhea ...
CHENlab-Yale
core   +1 more source

Language Games About Language Games: Wittgensteinian Hermeneutics Between Imaginative Participation and Analysis

Philosophical Investigations, EarlyView.
ABSTRACT Drawing on Remarks on Frazer's Golden Bough and Philosophical Grammar, it is shown that, from a hermeneutic perspective, the Middle Wittgenstein, develops a fluid model of understanding which supposes a fixable meaning of any given text. In this context, to understand a text (intransitively) means to (imaginatively) play the language games ...
Sebastian Abel
wiley   +1 more source

South Korean first-time mothers’ knowledge of digestive health problems in infancy and their utilization of health care facilities for digestive health concerns: a descriptive study [PDF]

Child Health Nursing Research
Purpose This study aimed to assess the knowledge level of first-time mothers regarding digestive health issues in infancy and to examine the utilization of healthcare facilities for such problems. Methods Data from 119 first-time mothers of infants under
Yijin Lee, Kyung-Sook Bang
doaj   +1 more source

Efficacy of Probiotic-Supplemented Infant Formula in Treating Chronic Diarrhea in Children Aged 6–43 Months: Evidence based on a Randomized Control Trial

Summary of Questionnaires on Infantile Diarrhea and Follow-up Record Form for Infantile ...
Wang, Yifan
core   +1 more source

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source