Results 111 to 120 of about 38,143 (313)

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

open access: yesJournal 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   +5 more
wiley   +1 more source

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

open access: yesJournal 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

PERCC1‐associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide

open access: yesJPGN Reports, EarlyView.
Abstract Congenital diarrheas and enteropathies (CODE) are rare inherited disorders characterized by early‐onset intractable diarrhea. Though progress has been made in elucidating the genetic basis of CODE, much remains to be discovered. Another challenge is the lack of curative therapies—treatment is primarily supportive including enteral and ...
Angela Tran, Vivien Nguyen, Phuong Huynh
wiley   +1 more source

Gastric duplication cyst causing hypergastrinemia in an infant

open access: yesJPGN 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

Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review

open access: yesMolecular Genetics and Metabolism Reports
Broad biochemical complexity and frequent overlapping clinical symptoms of inborn errors of metabolism (IEM), especially in energy-deficient patients, make accurate diagnosis difficult.
Fatimah Diana Amin Nordin   +5 more
doaj   +1 more source

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

open access: yesThe 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   +3 more
wiley   +1 more source

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

open access: yes, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima   +18 more
core  

Antithrombin: Deficiency, Diversity, and the Future of Diagnostics

open access: yesMass 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   +2 more
wiley   +1 more source

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

open access: yesMovement 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   +4 more
wiley   +1 more source

Incidence and geographic distribution of biliary atresia in children under 1 year of age in Colombia during the period 2018-2021

open access: yesRevista de la Facultad de Medicina
Introduction: Biliary atresia (BA) is the most common cause of obstructive jaundice in the first months of life. If not treated promptly, BA rapidly progresses to biliary cirrhosis and eventually leads to early death.
Angie Vanessa Vergara-Espitia   +3 more
doaj   +1 more source

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