Results 31 to 40 of about 11,358 (182)

The Role of Familial Mediterranean Fever Gene Mutation in Treatment of Infantile Colitis With Resistant Perianal Fistula

The Turkish Journal of Gastroenterology, 2018
Symptoms of infantile inflammatory bowel disease (I-IBD) can be life-threatening and associated with poor prognosis. The presence of Mediterranean fever (MEFV) gene mutations play an important role in treatment of I-IBD.
Maşallah BARAN, Yeliz ÇAĞAN APPAK, Pınar GARİPCİN, Yavuz DEMİRÇELİK, Emel Ebru PALA, Berk ÖZYILMAZ, Miray KARAKOYUN, Orkan ERGÜN   +7 more
doaj  

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

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

Meta Analysis of Effectiveness of Acupoint Application Therapy for Infantile Diarrhea

针刺研究, 2013
Objective To analyze the effectiveness of acupoint application therapy for infantile diarrhea so as to provide an objective evidence for clinical decision making.Methods The authors of the present paper did a literature retrieval using The China National
ZHANG Xin, JIA Chun-sheng, SHI Jing1, WANG Jian-ling1, LI Xiao-feng, ZHANG Xuan-ping, SUN Yan-hui, QIN Liang2   +7 more
doaj  

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

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1934-1941, August 2026.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
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

Diagnostic Challenges in Choroid Plexus Tumours

Neuropathology and Applied Neurobiology, Volume 52, Issue 4, August 2026.
In this review, we summarise the diagnostic spectrum of choroid plexus tumours, highlight key age‐dependent differential diagnoses across infants, children/adolescents and adults, and outline how histopathology, immunohistochemistry and molecular profiling support accurate tumour classification.
Christian Thomas, Martin Hasselblatt
wiley   +1 more source

Hidratación oral con una solución de baja osmolaridad en niños deshidratados por enfermedades diarreicas: un estudio clínico controlado.

Biomédica: revista del Instituto Nacional de Salud, 2003
Se realizó un estudio clínico controlado para comparar la efectividad de un suero de baja osmolaridad (SBO) (245 mOsm/L), en relación con la solución de hidratación oral estándar recomendada por la OMS (SHO/OMS). El grupo 1 (69 niños) recibió el suero de
Carlos Bernal, Claudia Velásquez, Guillermo García, Gustavo Uribe, Carlos Mauricio Palacio   +4 more
doaj   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source