Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation.

Primary carnitine deficiency (PCD) is an inherited disease of fatty acid beta-oxidation with autosomal recessive inheritance. The disease manifests as metabolic decompensation with hypoketotic hypoglycaemia associated with cardiomyopathy, hepatomegaly, rhabdomyolysis, and seizures. Various outcomes are described from asymptomatic adults to dramatic sudden infant death syndrome cases.

Post-infusion CAR T cells identify patients resistant to CD19-CAR therapy.

Approximately 60% of patients with large B cell lymphoma treated with chimeric antigen receptor (CAR) T cell therapies targeting CD19 experience disease progression, and neurotoxicity remains a challenge. Biomarkers associated with resistance and toxicity are limited. In this study, single-cell proteomic profiling of circulating CAR T cells in 32 patients treated with CD19-CAR identified that CD4Helios CAR T cells on day 7 after infusion are associated with progressive disease and less severe neurotoxicity.

Neonatal morbidity and mortality for preterm in breech presentation regarding the onset mode of labor.

Purpose: To assess severe neonatal morbidity and mortality in induced labor in preterm breech deliveries, compared to spontaneous labor.

Methods: This is a retrospective study conducted in a tertiary university center in France. Women with single live breech pregnancy between 28 + 0 and 36 + 6 weeks gestation were included.

Monitoring of Circulating Tumor DNA Improves Early Relapse Detection After Axicabtagene Ciloleucel Infusion in Large B-Cell Lymphoma: Results of a Prospective Multi-Institutional Trial.

Purpose: Although the majority of patients with relapsed or refractory large B-cell lymphoma respond to axicabtagene ciloleucel (axi-cel), only a minority of patients have durable remissions. This prospective multicenter study explored the prognostic value of circulating tumor DNA (ctDNA) before and after standard-of-care axi-cel for predicting patient outcomes.

Methods: Lymphoma-specific variable, diversity, and joining gene segments (VDJ) clonotype ctDNA sequences were frequently monitored via next-generation sequencing from the time of starting lymphodepleting chemotherapy until progression or 1 year after axi-cel infusion.

Immune reconstitution and infectious complications following axicabtagene ciloleucel therapy for large B-cell lymphoma.

Chimeric antigen receptor (CAR) T-cell therapy targeting CD19 has significantly improved outcomes in the treatment of refractory or relapsed large B-cell lymphoma (LBCL). We evaluated the long-term course of hematologic recovery, immune reconstitution, and infectious complications in 41 patients with LBCL treated with axicabtagene ciloleucel (axi-cel) at a single center. Grade 3+ cytopenias occurred in 97.

Management of hospitalised osteoporotic vertebral fractures.

Unlabelled: Management of hospitalised osteoporotic vertebral fracture patients was explored across all major trauma orthopaedic hospitals in Ireland. Findings, based on a survey of orthopaedic doctors and physiotherapists, indicate a lack of standardised clinical care pathways. This study will inform development of clinical audit mechanisms and health service development for this large and growing fracture population in both Ireland and internationally.

[Medication administration and cognitive disorders: from crushing to consent?].

As part of the 'Legislation, ethics, professional conduct' teaching unit, a group of student nurses analysed the initiative, taken by a nurse, to crush and conceal medicines without the patient's consent, in a context of cognitive disorders. This situation was the focus of a collaborative study involving students and different stakeholders from the training institute.

[A spectrum signals detection method for surface enhanced Raman scattering under high fluorescence and background noise].

A spectrum signals detection method has been designed for surface enhanced Raman scattering (SERS) under high fluorescence and background noise. The components of the fluorescence and background noise in SERS spectrum signal were analyzed first. Then they were evaluated by some models, such as polynomial model and AR model.

Risk-adjusted monitoring of veno-occlusive disease following Bayesian individualization of busulfan dosage for bone marrow transplantation in paediatrics.

In order to assess the performance of Bayesian individualization of busulfan (BU) dosage regimens, veno-occlusive disease (VOD) rate was monitored for paediatric patients undergoing allogeneic bone marrow transplantation (BMT). Consecutive patients undergoing allogeneic BMT with BU as conditioning regimen during 5-years period (January 2000-February 2006) were reviewed. VOD was a major outcome variable.

The robotized workstation "MASTER" for users with tetraplegia: description and evaluation.

The rehabilitation robotics MASTER program was developed by the French Atomic Energy Commission (CEA) and evaluated by the APPROCHE Rehabilitation centers. The aim of this program is to increase the autonomy and quality of life of persons with tetraplegia in domestic and vocational environments. Taking advantage of its experience in nuclear robotics, the CEA has supported studies dealing with the use of such technical aids in the medical area since 1975 with the SPARTACUS project, followed by MASTER 10 years later, and its European extension in the framework of the TIDE/RAID program.

Energy consumption of paraplegic locomotion using reciprocating gait orthosis.

The energy cost of walking using a reciprocating gait orthosis (RGOII) with functional electrical stimulation (FES) was assessed in 14 patients with spastic complete paraplegia from six rehabilitation centres. Before and after training asing RGOII with FES, the subjects performed a progressive maximal test on an arm-crank ergometer to obtain their laboratory peak oxygen uptake (LVO2peak), heart rate (HR) and blood lactate concentration changes. At the end of the training session, oxygen uptake (VO2) was measured during a walking test with orthosis at different speeds (6 min steady state at 0.

Restoration of functional gait in paraplegic patients with the RGO-II hybrid orthosis. A multicenter controlled study. II: Physiological evaluation.

We have investigated physiological changes in 21 patients with a spinal cord injury who were fitted with the RGO-II hybrid orthosis. All parameters were measured before and after a training programme in order to evaluate the benefit of gait rehabilitation, cardiovascular adaptation, constipation, spasticity and osteoporosis. A tendency for the improvement in cardiovascular function was noticed, and a segmental decrease in right colonic transit time was observed.

Restoration of functional gait in paraplegic patients with the RGO-II hybrid orthosis. A multicentre controlled study. I. Clinical evaluation.

By means of a multicentric study in six rehabilitation centres, we assessed the RGO-II orthosis to restore functional gait in patients with spinal cord injuries. The 26 subjects participating in the study had spastic complete paraplegia. Twenty one had progressed to the training programme and 19 were able to stand up alone.

[Social-professional rehabilitation of patients with multiple trauma without brain or spinal cord injuries].

Social and professional rehabilitation was studied in 77 patients who had sustained 1 to 5 years before a polytraumatism without brain or spinal cord injury. 36 patients (46%) remain professionally disabled, most of them manual workers, despite of long-term specific treatments. Only 41 patients (53%) judge their present quality of life good or satisfactory.