RESUMO
Down syndrome (DS) is associated with increased susceptibility to infections, auto-immunity, immunodeficiency and haematological malignancies. The exact underlying immunological pathophysiology is still unclear. The immunophenotype and clinical characteristics of DS resemble those of Activated PI3K Delta Syndrome (APDS), in which the PI3K/AKT/mTOR pathway is overactivated. We hypothesized that T cell exhaustion and the hyperactivation of the AKT signalling pathway is also present in immune cells of children with DS. In this observational non-interventional cohort study we collected blood samples of children with DS (n=22) and healthy age-matched controls (n=21) for flowcytometric immunophenotyping, phospho-flow AKT analysis and exhaustion analysis of T cells. The median age was 5 years (range 1-12y). Total T and NK cells were similar for both groups, but absolute values and transitional B cells, naive memory B cells and naive CD4+ and CD8+ T cells were lower in DS. pAKT and AKT were increased for CD3+ and CD4+ T cells and CD20+ B cells in children with DS. Total AKT was also increased in CD8+ T cells. Children with DS showed increased expression of inhibitory markers Programmed cell dealth-1 (PD-1), CD244 and CD160 on CD8+ T cells and increased PD-1 and CD244+ expression on CD4+ T cells, suggesting T cell exhaustion. Children with DS show increased pAKT and AKT and increased T cell exhaustion, which might contribute to their increased susceptibility to infections, auto immunity and haematological malignancies.
Assuntos
Síndrome de Down , Proteínas Proto-Oncogênicas c-akt , Linfócitos T , Criança , Pré-Escolar , Estudos de Coortes , Síndrome de Down/imunologia , Neoplasias Hematológicas , Humanos , Lactente , Fosfatidilinositol 3-Quinases , Receptor de Morte Celular Programada 1/metabolismo , Proteínas Proto-Oncogênicas c-akt/química , Linfócitos T/citologiaRESUMO
INTRODUCTION: Pectus excavatum repair is associated with substantial postoperative pain, despite the use of epidural analgesia and other analgesic regimens. Perioperative recorded music interventions have been shown to alleviate pain and anxiety in adults, but evidence for children and adolescents is still lacking. This study protocol describes a randomised controlled trial that evaluates the effects of recorded music interventions on postoperative pain relief in children and adolescents after pectus excavatum repair. METHODS: A multicentre randomised controlled trial was set up comparing the effects of perioperative recorded music interventions in addition to standard care with those of standard care only in patients undergoing a Nuss procedure for pectus excavatum repair. One hundred and seventy subjects (12-18 years of age) will be included in three centres in the Netherlands. Patient inclusion has started in November 2018, and is ongoing. The primary outcome is self-reported perceived pain measured on the visual analogue scale. Secondary outcomes are anxiety level, analgesics consumption, vital parameters such as heart rate, blood pressure and respiratory rate, length of hospital stay, postoperative complications, quality of life and cost-effectiveness. ETHICS AND DISSEMINATION: This study is being conducted in accordance with the Declaration of Helsinki. The Medical Ethics Review Board of Erasmus University Medical Centre Rotterdam, The Netherlands, has approved this protocol. Results will be disseminated via peer-reviewed scientific journals and conference presentations. TRIAL REGISTRATION NUMBER: NL6863.
Assuntos
Tórax em Funil , Musicoterapia , Música , Adolescente , Adulto , Analgésicos Opioides , Criança , Tórax em Funil/cirurgia , Humanos , Estudos Multicêntricos como Assunto , Países Baixos , Dor Pós-Operatória/prevenção & controle , Qualidade de Vida , Ensaios Clínicos Controlados Aleatórios como AssuntoRESUMO
INTRODUCTION: Pectus excavatum (PE) is the most common chest wall deformity. Patients with PE may have cosmetic complaints, restricted physical capabilities, or both and may seek surgical correction. One method to assess satisfaction after surgery is the single step questionnaire (SSQ). Although the developers state that the SSQ produces a stabile score and only needs to be used once, we hypothesized that the score may depend on point in time after surgery. MATERIALS AND METHODS: One hundred and eight patients from a longitudinal cohort of patients undergoing a Nuss bar placement for PE were selected. Mean age was 16.0 years (range: 12-29). SSQ was completed at 6 weeks, 6 months, 1 year, and 2 years postoperatively. Mean and median scores per question and total scores were calculated on each measurement moment. Overall scores were tested using the Friedman test. RESULTS: There were significant differences in overall SSQ scores (p < 0.009) throughout the postoperative period, especially between 6 weeks and 6 months (p = 0.006). Scores on general health, exercise capacity, impact on social life, pain during hospital stay, and after discharge changed also significant in the first 2 years after Nuss bar placement. CONCLUSION: There were significant differences in total SSQ score depending on the time of application postoperatively. However, the most clinical relevant difference was between 6 weeks and 6 months. Assessment of the overall satisfaction postoperative with the SSQ questionnaire should not be done with a single measurement but rather at different postoperative time intervals before and after 6 months postoperatively.
Assuntos
Tórax em Funil/cirurgia , Satisfação do Paciente , Adolescente , Feminino , Tórax em Funil/psicologia , Humanos , Estudos Longitudinais , Masculino , Inquéritos e Questionários , Fatores de TempoRESUMO
PURPOSE: Pectus excavatum (PE) is the most common chest wall deformity in adolescents. The main complaint is cosmetic, but many patients also complain about exertional dyspnea. This may lead to the patient seeking surgery of the thoracic wall deformity (TWD). The assumption is that both, appearance and physical complaints will have a negative effect on being able or wanting to engage in sport activity. METHODS: In December 2011 a prospective registration of sport activity in pectus excavatum patients started. Sport activity was assessed using questionnaires (CHQ, SF-36 and PEEQ). Measurements were taken before corrective surgery (preoperatively) and 12â¯months postoperatively. RESULTS: 127 patients have been included. The number of patients who were active in sports preoperatively and after 12â¯months remained steady. The type of sport activity, individual sport or team sport showed no significant change. The CHQ showed that physical activity caused fewer complaints (pâ¯<â¯0.001). The PEEQ showed a decrease in difficulties with sports activity performance after 12â¯months (pâ¯<â¯0.001). CONCLUSIONS: Twelve months after surgical correction of PE there was no significant increase in the number of patients performing sport activities. However there was a significant decrease of complaints or difficulties during sport compared to preoperatively. LEVEL OF EVIDENCE: Level IV.
Assuntos
Tórax em Funil/cirurgia , Esportes , Adolescente , Dispneia/etiologia , Feminino , Tórax em Funil/complicações , Humanos , Masculino , Países Baixos , Período Pós-Operatório , Período Pré-Operatório , Estudos Prospectivos , Inquéritos e Questionários , Adulto JovemRESUMO
OBJECTIVES: The surgical correction of pectus excavatum (PE) with a Nuss bar provides satisfactory outcomes, but its cost-effectiveness is yet unproven. We prospectively analysed early outcomes and costs for Nuss bar placement. METHODS: Fifty-four patients aged 16 years or older (6 females and 48 males; mean age, 17.9 years; range 16.0-29.4 years) with a PE filled out a Short Form-36 Health Survey (SF-6D) preoperatively and 1 year after a Nuss procedure. Costs included professional fees and fees for the operating room, materials and hospital care. Changes in the responses to the SF-36 or its domains were compared using the Wilcoxon signed rank test and the utility test results were calculated preoperatively and postoperatively from the SF-6D. The quality-adjusted life years (QALYs) were calculated from the results of these tests. RESULTS: Significant improvements in physical functioning, social functioning, mental health and health transition (all P < 0.05) were noted. The other SF-36 subgroups showed improvement; however, the improvement was not significant. The SF-6D utility showed improvement from 0.76 preoperatively to 0.79 at the 1-year follow-up (P = 0.096). The mean direct costs were 8805. The 1-year discounted QALY gain was 0.03. The estimated cost-utility ratio was 293 500 per QALY gained. CONCLUSIONS: Despite a significant improvement in many domains of the SF-36, the results of the SF-6D cost-utility analysis showed only a small improvement in cost-effectiveness (> 80 000/QALY) for patients with PE 1 year after Nuss bar placement. Based on this discrepancy, general health outcome measurements as the basis for cost-utility analysis in patients with PE may not be the best way forward.
Assuntos
Tórax em Funil/cirurgia , Procedimentos Cirúrgicos Torácicos/métodos , Atividades Cotidianas/psicologia , Adolescente , Adulto , Análise Custo-Benefício , Feminino , Tórax em Funil/economia , Tórax em Funil/psicologia , Custos de Cuidados de Saúde , Humanos , Masculino , Próteses e Implantes , Implantação de Prótese/economia , Implantação de Prótese/instrumentação , Implantação de Prótese/métodos , Qualidade de Vida/psicologia , Anos de Vida Ajustados por Qualidade de Vida , Estatísticas não Paramétricas , Procedimentos Cirúrgicos Torácicos/economia , Procedimentos Cirúrgicos Torácicos/instrumentação , Adulto JovemRESUMO
A 5-year-old boy was seen for a second opinion as he had episodes of severe abdominal pain and a variably distended abdomen. Ultrasonography showed a suspected duplication cyst of the terminal ileum. A laparoscopically assisted resection was performed. Histology confirmed the diagnosis of a duplication cyst. A few months later a 10-year-old boy presented with a history of abdominal pain, diarrhoea and vomiting. Abdominal ultrasonography showed an intussusception halfway up the transverse colon where a cyst was seen with a fluid level. The intussusception was reduced during laparoscopy and resection of the duplication cyst of the ileum was performed. Although intestinal duplication cysts are rare (prevalence 1:4500), it is important to know they exist. Laparoscopically assisted resection is an elegant way of treating duplication cysts in children.
Assuntos
Cistos/diagnóstico , Duodenopatias/diagnóstico , Doenças do Íleo/diagnóstico , Intussuscepção/diagnóstico , Laparoscopia , Criança , Pré-Escolar , Cistos/cirurgia , Duodenopatias/cirurgia , Humanos , Doenças do Íleo/cirurgia , Intussuscepção/cirurgia , Masculino , Resultado do TratamentoRESUMO
A 6-year-old girl had an eosinophilic granuloma on the parietal skull due to Langerhans cell histiocytosis.