Results 81 to 90 of about 20,351 (260)

First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain)

Frontiers in Immunology, 2019
Severe combined immunodeficiency (SCID), the most severe form of T-cell immunodeficiency, can be screened at birth by quantifying T-cell receptor excision circles (TRECs) in dried blood spot (DBS) samples.
Ana Argudo-Ramírez, Andrea Martín-Nalda, Jose L. Marín-Soria, Rosa M. López-Galera, Sonia Pajares-García, Jose M. González de Aledo-Castillo, Mónica Martínez-Gallo, Marina García-Prat, Roger Colobran, Roger Colobran, Jacques G. Riviere, Yania Quintero, Tatiana Collado, Judit García-Villoria, Antonia Ribes, Pere Soler-Palacín   +15 more
doaj   +1 more source

Pregnancy Outcomes and Postnatal Health From Transferred Mosaic Embryos Following Preimplantation Genetic Testing for Aneuploidy

iNew Medicine, EarlyView.
This illustration synthesizes the methods and conclusion of this study, demonstrating that the transfer of mosaic embryos following reimplantation genetic testing for aneuploidy does not increase the risk to postnatal health. ABSTRACT Next‐generation sequencing (NGS) has increased the detection of mosaic embryos during preimplantation genetic testing ...
Lili Chen, Dehuan Huang, Jingcheng Sang, Yiqi Yin, Caiyun Wu, Yan Hao, Dawei Chen, Zhiguo Zhang, Yunxia Cao, Ri‐Cheng Chian, Ping Zhou   +10 more
wiley   +1 more source

A Framework to Establish Diet and Nutrition Competencies for Oral Health Care Education

Journal of Dental Education, EarlyView.
ABSTRACT Objective: To prevent and manage oral disease, oral health care practitioners (OHCPs) must provide dietary counseling based on nutrition science. OHCPs are often ill‐equipped to provide such counseling due to fragmented and inadequate dietary education, which is typically attributed to limited curricular time or appropriately qualified faculty.
Teresa A. Marshall, Michael Crowe, Riva Touger‐Decker   +2 more
wiley   +1 more source

Patient and hospitalization differences in incarcerated versus nonincarcerated men: Insights from a 10‐year cohort study

Journal of Hospital Medicine, EarlyView.
Abstract Background The incarcerated population in the United States is underserved and aging rapidly; there is a dearth of information regarding their health, including hospital care. Epidemiological information is crucial to guide policymakers’ planning.
Farah Acher Kaiksow, Amir Forati, Kristin Merss, Karen Reece, Marguerite Burns, Eduard Eric Vasilevskis   +5 more
wiley   +1 more source

National trends in pediatric sepsis hospitalizations, case mix, and mortality, 2016–2022

Journal of Hospital Medicine, EarlyView.
Abstract Introduction Sepsis is a life‐threatening organ dysfunction caused by a dysregulated host response to infection. We evaluated changes in hospitalizations for children with sepsis between 2016 and 2022 and investigated factors associated with in‐hospital mortality.
Sriram Ramgopal
wiley   +1 more source

Gastric duplication cyst causing hypergastrinemia in an infant

JPGN Reports, EarlyView.
Abstract Gastric duplication cysts are rare congenital anomalies, with fewer than 10% occurring in the stomach. We report a 14‐month‐old girl presenting with failure to thrive, recurrent emesis, hematemesis, and severe duodenitis with ulceration. Laboratory evaluation revealed marked hypergastrinemia (1781 pg/mL), and initial imaging was unrevealing ...
Nathan Bryan, Ian Leibowitz
wiley   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, EarlyView.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Antithrombin: Deficiency, Diversity, and the Future of Diagnostics

Mass Spectrometry Reviews, EarlyView.
ABSTRACT Our healthcare system provides reactive sick‐care, treating patients after symptoms have appeared by prescription of generic and often suboptimal therapy. This strategy brings along high costs and high pressure which is not sustainable.
Mirjam Kruijt, Christa M. Cobbaert, L. Renee Ruhaak   +2 more
wiley   +1 more source

Isobutyryl-coenzyme a dehydrogenase deficiency: disease, or non-disease?

Orphanet Journal of Rare Diseases
Background Isobutyryl-coenzyme A dehydrogenase deficiency (IBDD) is a rare inborn error of valine metabolism caused by variants in the ACAD8 gene. Since its initial description in 1998, a wide range of clinical features has been reported, but the disease
María Daniela Santacruz Reyes, Jörn Oliver Sass   +1 more
doaj   +1 more source

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source