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Sleep apnea syndrome occurs when, during sleep, breathing stops for 10 seconds or longer, with an index of 5 times or more an hour. It is clinically characterized by loud snoring at night, continuous or interrupted by pauses followed by loud breathing. Sleep is fitful, broken by arousals, and yields little rest. There is daytime excessive sleepiness with repeated involuntary falling asleep, often unknown by the subject. In this article, we describe an observation of central sleep apnea syndrome in a female patient receiving an opiate replacement therapy. An analysis of the before and after methadone withdrawal polysomnograhic tracing was done for this patient. This diagnosis etiology and physiopathology are critically approached. Clinicians should be careful in treating induced sleep disorders in such patients. Prescribing benzodiazepines during an opiate withdrawal of the methadone type is not recommended when central apnea occurs.

Position du problème: Le syndrome d'apnées du sommeil se définit par la survenue, pendant le sommeil, d'arrěts respiratoires de durée supérieure ou égale à 10 secondes, selon un index supérieur ou égal à 5 par heure. Cliniquement, il se caractérise par la présence de ronflements nocturnes sonores continus ou entrecoupés de pauses avec reprise respiratoire bruyante. Le sommeil est agité, entrecoupé d'éveils, peu reposant. Il existe une hypersomnolence diurne avec présence d'endormissements involontaires répétés et souvent méconnus par le sujet. Description clinique: Dans cet article, une observation de syndrome d'apnées du sommeil d'origine centrale chez une patiente en thérapeutique de substitution par opiacés est décrite. Méthodologie: Une analyse du tracé polysomnographique avant et après sevrage de méthadone est réalisée chez cette patiente. Discussion: L'étiologie et la physiopathologie de ce diagnostic font l'objet d'une approche critique. Le rappel d'une attention nécessaire de la part du clinicien face à de tels patients dans le cadre du traitement de troubles du sommeil induits est posé. Conclusion: La présence d'apnées centrales est une contre-indication à la prescription de benzodiazépines durant le sevrage d'opiacés de type méthadone.

Background Next generation sequencing (NGS) has been a handy tool in clinical practice, mainly due to its efficiency and cost-effectiveness. It has been widely used in genetic diagnosis of several inherited diseases, and, in clinical oncology, it may enhance the discovery of new susceptibility genes and enable individualized care of cancer patients. In this context, we explored a pan-cancer panel in the investigation of germline variants in Brazilian patients presenting clinical criteria for hereditary cancer syndromes or familial history. Methods Seventy-one individuals diagnosed or with familial history of hereditary cancer syndromes were submitted to custom pan-cancer panel including 16 high and moderate penetrance genes previously associated with hereditary cancer syndromes ( APC, BRCA1, BRCA2, CDH1, CDKN2A, CHEK2, MSH2, MSH6, MUTYH, PTEN, RB1, RET, TP53, VHL, XPA and XPC ). All pathogenic variants were validated by Sanger sequencing. Results We identified a total of eight pathogenic variants among 12 of 71 individuals (16.9%). Among the mutation-positive subjects, 50% were diagnosed with breast cancer and had mutations in BRCA1 , CDH1 and MUTYH . Notably, 33.3% were individuals diagnosed with polyposis or who had family cases and harbored pathogenic mutations in APC and MUTYH . The remaining individuals (16.7%) were gastric cancer patients with pathogenic variants in CDH1 and MSH2 . Overall, 54 (76.05%) individuals presented at least one variant uncertain significance (VUS), totalizing 81 VUS. Of these, seven were predicted to have disease-causing potential. Conclusion Overall, analysis of all these genes in NGS-panel allowed the identification not only of pathogenic variants related to hereditary cancer syndromes but also of some VUS that need further clinical and molecular investigations. The results obtained in this study had a significant impact on patients and their relatives since it allowed genetic counselling and personalized management decisions.

Traumatic spinal cord injury (SCI) is a devastating condition without an effective therapy. Cellular therapies are among the promising treatment strategies. Adult stem cells, such as mesenchymal stem cells, are often used clinical research for their immunomodulatory and regenerative potential. This study aimed to evaluate the effect of human adipose tissue-derived stem cells (ADSC) infusion through the cauda equina in rats with SCI. The human ADSC from bariatric surgery was isolated, expanded, and characterized. Wistar rats were subjected to blunt SCI and were divided into four groups. Two experimental groups (EG): EG1 received one ADSC infusion after SCI, and EG2 received two infusions, the first one after SCI and the second infusion seven days after the injury. Control groups (CG1 and CG2) received infusion with a culture medium. In vivo, cell tracking was performed 48 h and seven days after ADSC infusion. The animals were followed up for 40 days after SCI, and immunohistochemical quantification of myelin, neurons, and astrocytes was performed. Cellular tracking showed cell migration towards the injury site. ADSC infusion significantly reduced neuronal loss, although it did not prevent the myelin loss or enhance the area occupied by astrocytes compared to the control group. The results were similar when comparing one or two cell infusions. The injection of ADSC distal to the injured area was shown to be a safe and effective method for cellular administration in spinal cord injury.

Purpose Preoperative preparation with halo gravity traction (HGT) has several advantages but is still controversial. A multicenter, observational, retrospective study was conducted to determine whether HGT provides better frontal correction in surgery for adolescent idiopathic scoliosis (AIS). Methods Between 2010 and 2020, all patients who underwent posterior spinal fusion (PSF) AIS with a Cobb angle greater than 80° were included. The included patients who underwent HGT were compared (complications rate and radiographic parameters) to patients who did not undergo traction (noHGT). For patients who underwent HGT, a spinal front X-ray at the end of the traction procedure was performed. Results Sixty-four in noHGT and forty-seven in HGT group were analyzed with a 31-month mean follow-up. The mean ratio of Cobb angle correction was 58.8% in noHGT and 63.6% in HGT group ( p  = 0.023). In HGT, this ratio reached 9% if the traction lasted longer than 30 days ( p  = 0.009). The complication rate was 11.7% with a rate of 6.2% in noHGT and 19.1% in HGT group ( p  = 0.07). In patient whose preoperative Cobb angle was greater than 90°, the mean ratio of Cobb angle correction increases to 6.7% ( p  = 0.035) and the complications rate increased to 14% in the no HGT group and decreased to 13% in the HGT group ( p  = 0.9). Conclusion HGT preparation in the management of correction of AIS with a Cobb angle greater than 90° is a technique providing a greater frontal correction gain with similar complication rate than PSF correction alone. We recommend a minimum halo duration of 4 weeks.