Needleless inhaled anesthesia with sevoflurane: Advantages of a simplified approach for children with spinal muscular atrophy undergoing intrathecal administration of nusinersen.

BACKGROUND: Intrathecal nusinersen administration, a fundamental step in the treatment of spinal muscular atrophy, is challenging in children. AIMS: This retrospective monocentric analysis of prospectively collected data evaluated the feasibility of needleless general anesthesia exclusively with sevoflurane, without imaging guidance, for children undergoing nusinersen administration in a 24-month period. METHODS: Clinical data included demographics, type of spinal muscular atrophy, presence and severity of scoliosis. Primary outcome was defined by the number of predefined sentinel adverse events related to anesthesia. Secondary outcomes were assessed by duration of the procedure, number of lumbar puncture attempts, and number of failures. Other measures included number and type of moderate, minor and minimal adverse events, as well as number and type of puncture-related adverse events. RESULTS: 116 patients (mean age: 8.7 (SD 6.9) years; with scoliosis: 49.1%) underwent 250 lumbar punctures; two cases of prolonged desaturation, considered as sentinel adverse events, (0.8%) were recorded during anesthesia (primary outcome). None of the patients underwent orotracheal intubation nor required an unplanned admission in the Pediatric Intensive Care Unit. No patient required an unplanned or prolonged hospitalization after the procedure. Mean number of puncture attempts was 1.6 (SD 1.3), and mean duration of the procedure was 14.1 (SD 8.3) minutes. No failure in the drug administration occurred (secondary outcomes). CONCLUSION: In this single-center experience, needleless general anesthesia with inhaled sevoflurane without imaging guidance has been shown to be feasible for children with spinal muscular atrophy undergoing lumbar puncture for nusinersen administration.

Early pediatric palliative care involvement in a child with a large deletion of the short arm (p) of chromosome 10: a case report.

BACKGROUND: We present a case of a Chinese child with one of the largest terminal deletions (21 Mb) of the short arm of chromosome 10 (10p) reported to date. Distal monosomy 10p is a rare chromosomal disorder characterized by intellectual disability, postnatal growth retardation, structural birth defects and dysmorphisms. Mutations in certain 10p regions have been associated with distinct clinical features, but the real weight of each component cannot be estimated in a large deletion like that of our child; therefore, long-term prognosis is difficult to predict precisely, although it certainly foresees a severe impact on the psychomotor development of the child. CASE DESCRIPTION: Diagnosis was made in the early neonatal period because of several dysmorphic features and multiple organ involvement. Since the patient's care needs were complex, the Pediatric Palliative Care (PPC) and Pain Service team was involved as a case manager and coordinator from the beginning. In the Veneto region of Italy, our PPC center offers a palliative care approach, through the national health system, embedded with curative-restorative care providing many support activities (such as physiotherapy, physiological support and home assistance) valuable for patients and their families' quality of life. Despite overlap in many characteristics of our child and other children who receive PPC services, the experience of children who have rare genetic conditions and undetermined prognosis with PPC services is still largely unknown. Periodic hospitalization for multidisciplinary follow-up and reassessment of patient's needs were arranged and any rehabilitation program focused on improving her skills was followed. At 5 years of age, her medical condition is controlled and well managed. CONCLUSIONS: This case represents a good example of complex care management by the PPC team, which takes into account the patient's and family's needs enhancing their quality of lives, as reported and underlined by parents themselves. This approach could be considered for other children with rare medical conditions without a definite prognosis.

Old Drug, New Pain. Roles and Challenges of Methadone Therapy in Pediatric Palliative Care: A Systematic Review.

Background: Pediatric palliative care (PPC) is defined as the prevention and relief from suffering of families and children with life-limiting (LLDs) or life-threatening diseases (LTDs). These patients often experience pain, with morphine being the most widely used drug to treat it. Few studies investigated the role of methadone in PPC patients, although it is considered among the most effective and underutilized drugs in PPC. Objectives: Our aim was to evaluate the efficacy, safety, and dosage of methadone in PPC. Methods: Between August and October 2021 PubMed, Scopus and the Cochrane Library were searched for studies on the use of methadone in children with LLDs and LTDs. Articles were included if they met the following criteria: published in the last 10 years, English language, patients aged 0-23 years; children enrolled in a PPC center or receiving declared support from a PPC service; reporting of specific data on methadone in interventional trials, observational studies, or case series on >10 patients. The reporting of the article was guided by the PRISMA guidelines, and a critical appraisal of the included studies was performed using the JBI-tool. Results: After duplicates removal and full-text assessment, four studies were included and another one was added after checking the references of the retrieved papers. All were retrospective, and the literature is concordant in documenting the lack of evidence. A total of 116 children received methadone in PPC. From our review emerges the poor quality of data collection: in only one study pain was assessed with standardized scales. All studies documented the effectiveness of methadone in treating complex pain, either nociceptive or neuropathic. No serious adverse events were reported, with no cases of cardiac arrhythmias. Conclusion: Our results suggest that methadone could represent a suitable strategy for treating pain in PPC. However, the evidence base is insufficient, and further research is warranted.

Efficacy of recombinant versus human derived follicle stimulating hormone on the oocyte and embryo quality in IVF-ICSI cycles: Randomised, controlled, multi-centre trial.

The aim of this trial, comparing human follicle stimulating hormone (hFSH) and recombinant FSH (rFSH) was to evaluate the efficacy on oocyte and embryo quality in in vitro fertilisation/intracytoplasmic sperm injection cycles. Four-hundred and one women were randomised in two groups to receive or hFSH or rFSH in stimulation protocols. The primary end point of this study was the oocyte/embryo quality. No significant difference in oocyte/embryo quality was observed between the two groups. The number of oocytes retrieved was significantly higher in the hFSH group (6 +/- 2.8 in hFSH group vs. 5 +/- 2.6 in rFSH group; P = 0.003). A less amounts of gonadotropins consumed (2106 +/- 719 IU in hFSH group vs. 3536 +/- 1099 IU in rFSH group; P < 0.0001) and shorter duration of stimulation (human chorionic gonadotropin day of administration: Day 12.3 +/- 1.0 in hFSH and Day 13.3 +/- 1.2 in rFSH group, respectively; P < 0.0001) was registered in hFSH group. Fertilisation, cleavage and implantation rates, pregnancy and abortion rates were similar in both groups. However, lower clinical abortion rate (not significant) in hFSH group might be noteworthy. In our study, we demonstrated that hFSH and rFSH products are equivalent in terms of clinical efficacy.