Palliative care would fill a need and could save health care dollars in the process. But providers often need to patch together CPT codes to get paid for it.
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Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.
J Med Genet
January 2025
Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France
Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.
View Article and Find Full Text PDFImplementation of a program to strengthen oral hygiene in patient with cleft deformities: a prospective randomized controlled clinical trial.
Trials
January 2025
INSERM, Regenerative Medicine and Skeleton, RMeS, CHU Nantes, Nantes Université, UMR 1229, Nantes, 44000, France.
Background: Cleft lip and/or palate is the most common congenital orofacial deformity, affecting 1/800 births. A thorough review of the literature has shown that children with cleft have poorer oral hygiene and dental health than other children, with higher levels of caries in both temporary and permanent teeth and poorer periodontal health. Cleft patients are treated by a multidisciplinary team that aims to provide comprehensive care from pre- or post-natal diagnosis to early adulthood and the end of growth.
View Article and Find Full Text PDFEvaluation of the implementation in primary care of genetic testing for the screening of MODY2 (iMOgene): protocol for an implementation pilot study.
BMJ Open
January 2025
Research Centre of Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean (CIUSSS-SLSJ), Saguenay, Quebec, Canada
Introduction: MODY2 (maturity-onset diabetes of the young type 2, MIM125851) is a monogenic diabetes with an autosomal dominant transmission caused by a variant of the gene. MODY2 is often confused with type 1 or type 2 diabetes, but despite a slightly elevated blood glucose level, it does not induce long-term vascular complications, nor does it require pharmacological treatment. Genetic testing for the diagnosis of MODY2 is currently reserved for genetic specialists and some physicians.
View Article and Find Full Text PDFLong-term mortality of Dutch COVID-19 patients admitted to the intensive care medicine: a retrospective analysis from a national quality registry.
Crit Care Sci
January 2025
Noordwest Ziekenhuisgroep - Alkmaar, The Netherlands.
Objective: To describe the 12-month mortality of Dutch COVID-19 intensive care unit patients, the total COVID-19 population and various subgroups on the basis of the number of comorbidities, age, sex, mechanical ventilation, and vasoactive medication use.
Methods: We included all patients admitted with COVID-19 between March 1, 2020, and March 29, 2022, from the Dutch National Intensive Care (NICE) database. The crude 12-month mortality rate is presented via Kaplan-Meier survival curves for each patient subgroup.
User Experience of a Semi-Immersive Musical Serious Game to Stimulate Cognitive Functions in Hospitalized Older Patients: Questionnaire Study.
JMIR Serious Games
January 2025
Department of Medical and Rehabilitation Care, Angers University Hospital, Angers, France.
Background: Reminiscence therapy through music is a psychosocial intervention with benefits for older patients with neurocognitive disorders. Therapies using virtual or augmented reality are efficient in ecologically assessing, and eventually training, episodic memory in older populations. We designed a semi-immersive musical game called "A Life in Songs," which invites patients to immerse themselves in a past era through visuals and songs from that time period.
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