ABSTRACT
Nurses are omniscient in the French healthcare system. They are an essential link in the healthcare system, and their added value is unquestionable. The profession needs to be revamped to keep pace with current developments in nursing practices and the needs of the population.
Subject(s)
Delivery of Health Care , Humans , France , Delivery of Health Care/organization & administration , Nurse's RoleABSTRACT
BACKGROUND: Although the group of paroxysmal kinesigenic dyskinesia (PKD) genes is expanding, the molecular cause remains elusive in more than 50% of cases. OBJECTIVE: The aim is to identify the missing genetic causes of PKD. METHODS: Phenotypic characterization, whole exome sequencing and association test were performed among 53 PKD cases. RESULTS: We identified four causative variants in KCNJ10, already associated with EAST syndrome (epilepsy, cerebellar ataxia, sensorineural hearing impairment and renal tubulopathy). Homozygous p.(Ile209Thr) variant was found in two brothers from a single autosomal recessive PKD family, whereas heterozygous p.(Cys294Tyr) and p.(Thr178Ile) variants were found in six patients from two autosomal dominant PKD families. Heterozygous p.(Arg180His) variant was identified in one additional sporadic PKD case. Compared to the Genome Aggregation Database v2.1.1, our PKD cohort was significantly enriched in both rare heterozygous (odds ratio, 21.6; P = 9.7 × 10-8) and rare homozygous (odds ratio, 2047; P = 1.65 × 10-6) missense variants in KCNJ10. CONCLUSIONS: We demonstrated that both rare monoallelic and biallelic missense variants in KCNJ10 are associated with PKD. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Subject(s)
Mutation, Missense , Potassium Channels, Inwardly Rectifying , Humans , Male , Mutation, Missense/genetics , Female , Potassium Channels, Inwardly Rectifying/genetics , Adult , Adolescent , Child , Dystonia/genetics , Young Adult , Pedigree , Middle Aged , Exome Sequencing , Child, PreschoolABSTRACT
Transition support is an integral part of the care of adolescents in clinical services. To avoid disruptions in the care pathway, transition spaces in pediatric and adult hospitals are emerging. There are currently fifteen in France. The professionals working there and the tools and methods used are heterogeneous, but with a common challenge which is the reduction of the major risk of disruption of the care pathway and support for the life course.
Subject(s)
Transition to Adult Care , Adult , Humans , Child , Adolescent , Hospitals , FranceABSTRACT
Transition is a complex process that enables a young person living with a chronic illness to become an adult. It begins early in adolescence and ends once the transfer to the adult service is complete. The high risk of disruption during this transition calls for coordinated care focused on the patient and his or her life course. Many programs are dedicated to this delicate stage, including Jump, developed within the neurology department of a Paris hospital.
Subject(s)
Advanced Practice Nursing , Male , Adult , Adolescent , Female , Humans , Chronic Disease , ParisABSTRACT
Advanced practice nurses, whether they practice on an outpatient basis or in a health care establishment, constitute an essential link in the articulation of patient follow-up thanks to a network of partners. This article describes the missions of two nurses, one working in an epileptology department and the other in a cardiology practice, as well as the partnerships they have implemented.
Subject(s)
Health Facilities , Hospitals , HumansABSTRACT
BACKGROUND: "JUMP" is a multidisciplinary program based at the Pitie-Salpêtrière Hospital Paris that transitions young adults with chronic neurological conditions from paediatric to adult healthcare. Transitional care programs have been shown to improve medical, educational and psychosocial outcomes for adolescent patients. METHODS: Demographic details and health-related variables of all patients referred to the JUMP program were collected. Satisfaction outcome measures were the 18-item On Your Own Feet Transfer Experience Scale (OYOF-TES) and a visual analogue scale, which assessed overall satisfaction with the transfer process. Scales were sent to JUMP patients attending the JUMP day hospital (nâ¯=â¯94) and their parents (nâ¯=â¯94). RESULTS: Since its inception, 111 patients have been seen in the JUMP program. Nine neurological clinical syndromes and four main underlying etiologies were identified. Approximately half of all questionnaires and scales (86/188) sent to patients and parents were returned. Eighty-nine percent of patients and 91% of parents were very satisfied with their transfer experience. There was a strong, positive correlation between patient and parent satisfaction [râ¯=â¯0.910; pâ¯<â¯0.0001]. CONCLUSION: The JUMP program which is rooted in a multidisciplinary and coordinated approach to transitional care encompasses a broad range of neuro-pathologies. Overall, satisfaction levels were high amongst patients within the program, and their parents. The key role played by the coordination nurse specialists throughout the transfer process is a likely key determinant in satisfaction levels.
