Results 101 to 110 of about 8,524 (262)

The safe and effective use of tofacitinib and ustekinumab combination therapy in infantile onset inflammatory bowel disease

JPGN Reports, EarlyView.
Abstract Infantile‐onset inflammatory bowel disease (IOIBD) is a rare and severe subset of very‐early‐onset IBD, often associated with immune dysregulation and poor response to conventional therapies. Data regarding the use of Janus kinase inhibitors (JAKI) in this population is limited.
Smridhi Mahajan, Christian Wysocki, Bhaskar Gurram   +2 more
wiley   +1 more source

Whole-exome sequencing for detecting inborn errors of immunity: overview and perspectives [version 1; referees: 2 approved]

F1000Research, 2017
The study of inborn errors of immunity is based on a comprehensive clinical description of the patient’s phenotype and the elucidation of the underlying molecular mechanisms and their genetic etiology.
Barbara Bosch, Yuval Itan, Isabelle Meyts   +2 more
doaj   +1 more source

Refractory Eczema as a Presenting Feature of Common Variable Immunodeficiency

JEADV Clinical Practice, EarlyView.
ABSTRACT Common variable immunodeficiency (CVID) is the most prevalent symptomatic inborn error of immunity (IEI) in adults. It presents with recurrent infections and non‐infectious complications, including autoimmunity, lymphoproliferation and dermatitis.
Mercedes Sanchez‐Diaz, Lars Matthies, Andrea Vanegas Ramirez   +2 more
wiley   +1 more source

Clinical periodontal diagnosis

Periodontology 2000, EarlyView., 2023
Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi, Andrea Roccuzzo, Jean‐Claude Imber, Alexandra Stähli, Björn Klinge, Niklaus P. Lang   +5 more
wiley   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

AIOLOS-Associated Inborn Errors of Immunity

Journal of Clinical Immunology
AbstractAIOLOS, encoded by the IKZF3 gene, belongs to the Ikaros zinc finger transcription factor family and plays a pivotal role in regulating lymphocyte development. Recently, heterozygous missense loss-of-function variants within the DNA-binding domain of the IKZF3 gene (G159R, N160S, and G191R) have been identified in patients with inborn errors of
Yamashita, Motoi, Morio, Tomohiro
openaire   +2 more sources

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Maria C. Vladoiu, Sen Zhao, Roni Zemet, Christian M. Parobek, Jefferson Cruz Sinson, Stacy Tankersley, Ignatia B. Van den Veyver, Pengfei Liu   +7 more
wiley   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Current genetic diagnostics in inborn errors of immunity

Frontiers in Pediatrics
New technologies in genetic diagnostics have revolutionized the understanding and management of rare diseases. This review highlights the significant advances and latest developments in genetic diagnostics in inborn errors of immunity (IEI), which ...
Sandra von Hardenberg, Isabel Klefenz, Doris Steinemann, Nataliya Di Donato, Ulrich Baumann, Bernd Auber, Christian Klemann, Christian Klemann   +7 more
doaj   +1 more source

Applications and prospects of artificial intelligence and digital medicine in pediatric nasal skull base tumors

Pediatric Investigation, EarlyView.
Pediatric nasal skull base tumors present diagnostic and therapeutic challenges due to their deep location, nonspecific symptoms, and the narrow nasal cavity in children. Although artificial intelligence (AI) and digital medicine have advanced early diagnosis, multidisciplinary treatment, and prognosis, their application in these rare tumors remains ...
Xiuping Wu, Jing Wei, Chen Liu, Pengpeng Wang, Wentong Ge, Yang Han   +5 more
wiley   +1 more source