Results 61 to 70 of about 28,682 (252)

Case reports of oral appliance therapy on three young adults with Down syndrome and OSA

open access: yesJournal of Prosthodontics, EarlyView.
Abstract Patients with Down syndrome (DS) have a high incidence of obstructive sleep apnea (OSA) due to hypotonia, weight, underdeveloped midface, and relative macroglossia. This article presents three cases of young adults with DS, who were diagnosed with mild to severe OSA and unable to tolerate positive airway pressure therapy.
Jingjing Zhang   +3 more
wiley   +1 more source

Neonatal screening: 9% of children with filter paper thyroid‐stimulating hormone levels between 5 and 10 μIU/mL have congenital hypothyroidism

open access: yesJornal de Pediatria (Versão em Português), 2017
Objectives: To determine the prevalence of congenital hypothyroidism in children with filter paper TSH levels (f‐TSH) between 5 and 10 μUI/mL in the neonatal screening. Methods: This was a retrospective study including children screened from 2003 to 2010,
Flávia C. Christensen‐Adad   +7 more
doaj   +1 more source

Phenotyping Neurodisability in Hospital Records in England: A National Birth Cohort Using Linked Administrative Data

open access: yesPaediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Children with neurodisability often have complex healthcare and educational needs. Evidence from linked administrative health and education data could improve joint working between services. Objective To develop a diagnostic code list to identify neurodisability in hospital admission records; to assess the representativeness of this
Ania Zylbersztejn   +25 more
wiley   +1 more source

The congenital hypothyroidism: the incidence and clinical features of different forms

open access: yesMìžnarodnij Endokrinologìčnij Žurnal, 2017
Background. Congenital hypothyroidism (CH) as the most common hereditary thyroid pathology is a serious social, economic and psychological burden for a family, where the sick child was born, as well as for the society.
T.V. Sorokman
doaj   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods   +16 more
wiley   +1 more source

Specific and Non-Specific Thalamocortical Afferents to the Whisker–Related Sensory Cortical Region in Rats with Congenital Hypothyroidism [PDF]

open access: yesJournal of Kerman University of Medical Sciences, 2015
Background & Aims: Thyroid hormones are of great importance in the development of the central nervous system. Congenital hypothyroidism may affect the reorganization of specific and non-specific thalamocortical afferents to whisker–related sensory (wS1 ...
Mohammad-Reza Afarinesh, Gila Behzadi
doaj  

Oral and systemic manifestations of congenital hypothyroidism in children. A case report.

open access: yesJournal of Oral Research, 2015
Hypothyroidism is the most common thyroid disorder. It may be congenital if the thyroid gland does not develop properly. A female predominance is characteristic. Hypothyroidism is the most common congenital pediatric disease and its first signs and early
Carmen Ayala, Obed Lemus, Maribel Frías
doaj   +1 more source

Exploring a Circulating miRNA Signature for PMM2‐CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring

open access: yesJournal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Phosphomannomutase deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation, characterized by variable early‐onset neurological (hypotonia, cerebellar syndrome, developmental delay) and multi‐organ manifestations. Although several clinical trials are ongoing, current biomarkers lack prognostic or monitoring utility ...
Florencia Epifani   +14 more
wiley   +1 more source

Timing and Predictive Value of Clinical Conditions Preceding Multiple Sclerosis in the UK Biobank

open access: yesAnnals of Clinical and Translational Neurology, Volume 12, Issue 10, Page 1952-1961, October 2025.
ABSTRACT Objectives Multiple sclerosis (MS) patients often experience a higher incidence of clinical conditions before diagnosis, suggesting a prodromal phase. However, their predictive value and temporal trajectories remain underexplored. We investigated these aspects using the large UK Biobank's population‐based cohort, which provided clinical ...
Andrea Nova   +5 more
wiley   +1 more source

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