RESUMEN
OBJECTIVE: To identify the risk factors for early mortality and morbidity in a population with distal esophageal atresia (EA)-tracheoesophageal fistula. STUDY DESIGN: Cohort study from a national register. Main outcomes and measures included early mortality, hospital length of stay (LoS), need for nutritional support at 1 year of age as a proxy measure of morbidity, and complications during the first year of life. RESULTS: In total, 1008 patients with a lower esophageal fistula were included from January 1, 2008, to December 31, 2014. The survival rate at 3 months was 94.9%. The cumulative hospital LoS was 31.0 (17.0-64.0) days. Multivariate analysis showed that intrahospital mortality at 3 months was associated with low birth weight (OR 0.52, 95% CI [0.38-0.72], P < .001), associated cardiac abnormalities (OR 6.09 [1.96-18.89], P = .002), and prenatal diagnosis (OR 2.96 [1.08-8.08], P = .034). LoS was associated with low birth weight (-0.225 ± 0.035, P < .001), associated malformations (0.082 ± 0.118, P < .001), surgical difficulties (0.270 ± 0.107, P < .001), and complications (0.535 ± 0.099, P < .001) during the first year of life. Predictive factors for dependency on nutrition support at 1 year of age were complications before 1 year (OR 3.28 [1.23-8.76], P < .02) and initial hospital LoS (OR 1.96 [1.15-3.33], P < .01). CONCLUSIONS: EA has a low rate of early mortality, but morbidity is high during the first year of life. Identifying factors associated with morbidity may help to improve neonatal care of this population.
Asunto(s)
Atresia Esofágica/mortalidad , Tiempo de Internación/estadística & datos numéricos , Diagnóstico Prenatal/estadística & datos numéricos , Fístula Traqueoesofágica/mortalidad , Atresia Esofágica/diagnóstico , Femenino , Francia/epidemiología , Cardiopatías Congénitas/complicaciones , Humanos , Lactante , Recién Nacido de Bajo Peso , Recién Nacido , Masculino , Apoyo Nutricional/estadística & datos numéricos , Sistema de Registros , Factores de Riesgo , Encuestas y Cuestionarios , Fístula Traqueoesofágica/diagnósticoRESUMEN
OBJECTIVE: To identify predictors of and factors associated with the performance of antireflux surgery during the first year of life in children born with esophageal atresia. STUDY DESIGN: All patients were included in a French registry for esophageal atresia. All 38 multidisciplinary French centers completed questionnaires about perinatal characteristics and one-year outcome for children born with esophageal atresia. RESULTS: Of 835 infants with esophageal atresia born in France from 2010 to 2014, 682 patients, excluding those with long-gap esophageal atresia, were included. Three patients had type I, 669 had type III, and 10 had type IV esophageal atresia. Fifty-three children (7.8%) received fundoplication during the first year of life. The median age at the time of the end-to-end esophageal anastomosis was 1.1 day (range 0-15). Multivariate analysis identified three perioperative factors that predicted the need for early antireflux surgery: anastomotic tension (P = .004), associated malformations (P = .019), and low birth weight (P = .018). Six other factors, measured during the first year of life, were associated with the need for antireflux surgery: gastroesophageal reflux (P < .001), anastomotic stricture (P < .001), gastrostomy (P < .001), acute life-threatening event (P = .002), respiratory complications (P = .045), and poor nutritional status (P < .001). CONCLUSIONS: Gastroesophageal reflux disease, low birth weight, poor nutrition, and surgical anastomosis difficulties predicted the performance of antireflux surgery in the first year of life in infants with esophageal atresia.
Asunto(s)
Atresia Esofágica/cirugía , Fundoplicación , Anastomosis Quirúrgica/efectos adversos , Constricción Patológica , Atresia Esofágica/clasificación , Femenino , Francia , Reflujo Gastroesofágico/cirugía , Gastrostomía , Humanos , Lactante , Recién Nacido de Bajo Peso , Recién Nacido , Masculino , Análisis Multivariante , Estado Nutricional , Sistema de RegistrosRESUMEN
INTRODUCTION: Medical and para-medical education is one of the key points of healthcare strategy. Training and education based on high-fidelity simulation is one of the gold standards in modern healthcare institutions. We describe a model of training dedicated to ICU nurses in charge of patients with ECMO. The aim of our educational tool was to teach ICU nurses ECMO basic knowledge and skills. METHODS: An ECMO Specialist Course Committee implemented the training programme. It was on two consecutive days and consisted of theoretical, practical and high-fidelity, simulation-based teaching. A content expert implemented each scenario and learning objectives were defined. Participants were assessed pre- and post-test (Group 1 and Group 2). RESULTS: In two years, seven sessions took place and 40 volunteers were enrolled. High-fidelity, simulation-based teaching consisted of seven scenarios. There was a significant improvement in mean score between pre- and post-test. Moreover, we noticed that the basic level (pre-test) of participants was improving over the time. The mean pre-test scores of Group 2 were significantly higher than Group1. CONCLUSION: The implementation of education and training course for ICU nurses in charge of patients on ECMO is feasible and reliable. It improves nurse personal levels, but also shares in improving the global level of the team to which they belong.
Asunto(s)
Competencia Clínica , Simulación por Computador , Oxigenación por Membrana Extracorpórea/educación , Unidades de Cuidados Intensivos/normas , Enfermeras y Enfermeros/normas , Humanos , Grupo de Atención al Paciente , Proyectos PilotoRESUMEN
PURPOSE: While familial forms of complex disorders/differences of sex development have been widely reported, data regarding isolated hypospadias are sparse and a family history is thought to be less frequent. We aimed to determine the frequency of hypospadias in families of boys with hypospadias, to establish whether these familial forms exhibit a particular phenotype and to evaluate the prevalence of genetic defects of the main candidate genes. MATERIALS AND METHODS: A total of 395 boys with hypospadias were prospectively screened for a family history with a standardized questionnaire, extensive clinical description, family tree and sequencing of AR, SF1, SRD5A2 and MAMLD1. RESULTS: Family history of hypospadias was more frequent than expected (88 patients, 22.3%). In 17 instances (19.3%) familial hypospadias cases were multiple. Familial hypospadias was related to the paternal side in 59.1% of cases, consisting of the father himself (30.7%) as well as paternal uncles and cousins. Premature birth, assisted reproductive techniques, other congenital abnormalities and growth retardation were not more frequent in familial hypospadias than in sporadic cases. The severity of phenotype was similar in both groups. The results of genetic analysis combined with previous data on androgen receptor sequencing revealed that familial cases more frequently tend to demonstrate genetic defects than sporadic cases (5.68% vs 1.63%, p = 0.048). CONCLUSIONS: Familial forms of hypospadias are far more frequent than previously reported. Even minor and isolated forms justify a full clinical investigation of the family history. Detecting these hereditary forms may help to determine the underlying genetic defects, and may improve followup and counseling of these patients.
Asunto(s)
Predisposición Genética a la Enfermedad/epidemiología , Hipospadias/epidemiología , Hipospadias/genética , Linaje , 3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa/genética , Preescolar , Estudios de Seguimiento , Humanos , Incidencia , Lactante , Masculino , Tamizaje Masivo/métodos , Estudios Prospectivos , Receptores Androgénicos/genéticaRESUMEN
OBJECTIVE: To evaluate the status of congenital diaphragmatic hernia (CDH) management in France and to assess predictors of adverse outcomes. STUDY DESIGN: We reviewed the first-year outcome of all cases of CDH reported to the French National Register in 2011. RESULTS: A total of 158 cases were included. Of these, 83% (131) were prenatally diagnosed, with a mortality rate of 39% (44 of 112) for live born infants with a known outcome at hospital discharge. Mortality increased to 47% (60 of 128) including those with termination of pregnancy and fetal loss. This contrasts with the 7% (2 of 27) mortality rate of the patients diagnosed postnatally (P = .002). Mortality worsened with 1 prenatal marker of CDH severity (OR 3.38 [1.30-8.83] P = .013) and worsened further with 2 markers (OR 20.64 [5.29-80.62] P < .001). Classic postnatal risk factors of mortality such as side of hernia (nonleft P = .001), prematurity (P < .001), low birth weight (P = .002), and size of the defect (P < .001) were confirmed. Of the 141 live births (114 prenatal and 27 postnatal diagnosis) with known outcomes, 93 (67%) survived to hospital discharge, 68 (60%) with a prenatal diagnosis and 25 (93%) with a postnatal diagnosis. The median time to hospital discharge was 34 days (IQR, 19.25-62). Of these survivors, 71 (76%) were followed up for 1 year. CONCLUSIONS: Despite advances in management of CDH, mortality was high and associated with prenatal risk factors. Postnatally, severe persistent pulmonary hypertension was difficult to predict and presented persistent challenges in management.
Asunto(s)
Hernias Diafragmáticas Congénitas/mortalidad , Femenino , Francia , Hernias Diafragmáticas Congénitas/terapia , Humanos , Lactante , Mortalidad Infantil , Recién Nacido , Masculino , Embarazo , Atención Prenatal , Diagnóstico Prenatal , Estudios Prospectivos , Sistema de Registros , Factores de Riesgo , Tasa de Supervivencia , Resultado del TratamientoRESUMEN
BACKGROUND: Wounds of the finger nail bed represent a frequent injury, especially in children. Residents often learn nail bed repair on patients without prior training. We aimed to develop and evaluate a "low-fidelity" simulation model of nail bed repair. METHODS: The model consists of a false nail on a plastic finger and a hydrocolloid dressing, which is pasted on the nail bed site and cut horizontally. This model allows nail bed suture and nail fixation. The cost of each model is about $1. Thirty-three doctors evaluated this model on 10 items, rated out of five, concerning the realism, the difficulty of the procedure, and the educational value. The duration of the procedure was also noted. We evaluated the clinical effectiveness by comparing through Fisher's exact test the ratio of unsuitable events (revision surgeries, surgical site infections, and complaint letters) on two periods-3 y before and 18 mo after the implementation of this model in our institution, respectively. RESULTS: Average mark was 4.16/5. The model was considered reliable, reproducible, and realistic. All the testers recognized a big educational value. The overall duration of the procedure averaged 23 min for residents and 11 min for surgeons. We collected 17 unsuitable events out of 84 patients from the period "before" and 2 out of 54 patients from the period "after" (P = 0.005). Revision surgeries were 10/84 from the period before and 2/54 from the period after (P = 0.04). CONCLUSIONS: The results of the internal and clinical evaluations are encouraging. We suggest integration of this model into the training program of residents.
Asunto(s)
Traumatismos de los Dedos/cirugía , Modelos Anatómicos , Procedimientos Ortopédicos/educación , Procedimientos de Cirugía Plástica/educación , Entrenamiento Simulado/métodos , Humanos , Internado y Residencia , Uñas/anatomía & histología , Uñas/lesiones , Tempo Operativo , Procedimientos Ortopédicos/efectos adversos , Procedimientos Ortopédicos/métodos , Procedimientos de Cirugía Plástica/efectos adversos , Procedimientos de Cirugía Plástica/métodos , Reoperación/estadística & datos numéricos , Entrenamiento Simulado/economía , Técnicas de Sutura , Resultado del TratamientoRESUMEN
OBJECTIVES: To develop a reliable and validated tool to evaluate technical resuscitation skills in a pediatric simulation setting. STUDY DESIGN: Four Resuscitation and Emergency Simulation Checklist for Assessment in Pediatrics (RESCAPE) evaluation tools were created, following international guidelines: intraosseous needle insertion, bag mask ventilation, endotracheal intubation, and cardiac massage. We applied a modified Delphi methodology evaluation to binary rating items. Reliability was assessed comparing the ratings of 2 observers (1 in real time and 1 after a video-recorded review). The tools were assessed for content, construct, and criterion validity, and for sensitivity to change. RESULTS: Inter-rater reliability, evaluated with Cohen kappa coefficients, was perfect or near-perfect (>0.8) for 92.5% of items and each Cronbach alpha coefficient was ≥0.91. Principal component analyses showed that all 4 tools were unidimensional. Significant increases in median scores with increasing levels of medical expertise were demonstrated for RESCAPE-intraosseous needle insertion (P = .0002), RESCAPE-bag mask ventilation (P = .0002), RESCAPE-endotracheal intubation (P = .0001), and RESCAPE-cardiac massage (P = .0037). Significantly increased median scores over time were also demonstrated during a simulation-based educational program. CONCLUSIONS: RESCAPE tools are reliable and validated tools for the evaluation of technical resuscitation skills in pediatric settings during simulation-based educational programs. They might also be used for medical practice performance evaluations.
Asunto(s)
Lista de Verificación , Pediatría/educación , Resucitación/educación , Entrenamiento Simulado , Adulto , Competencia Clínica , Técnica Delphi , Evaluación Educacional , Femenino , Francia , Humanos , Internado y Residencia , Intubación Intratraqueal , Masculino , Maniquíes , Pediatras , Análisis de Componente Principal , Reproducibilidad de los Resultados , Estudiantes de Medicina , Adulto JovenRESUMEN
To study the management of acute appendicitis in neutropenic patients, we retrospectively reviewed cases of acute appendicitis in neutropenic children treated for cancer. The patients' demographics, medical records, and outcomes were tracked. We compared nonoperative treatment versus emergency or delayed surgery. The cases of 30 patients with a mean age of 8.8 years in 12 French departments of Pediatric Hematology/Oncology between 1995 and 2013 were studied. Most patients (90%) were treated for hematological malignancies. Seven of the 30 children were successfully treated with exclusive medical treatment. Early surgery was performed in 6 patients, and the remaining 17 underwent combined management with a first-line antibiotic treatment and delayed appendectomy. Treatments were successful in all cases with transitory complications in only 3 patients. No death linked to infection was reported. Surgery was well tolerated even in the neutropenic period. Appendix perforation was a major risk factor of prolonged hospitalization. Histologic as well as bacteriologic and mycologic/parasitologic analyses were required in case of surgery. Analysis of diagnostic assessments showed the major importance of imaging (ultrasonography and tomography) on diagnosis confirmation. We could not come to a conclusion in the few numbers of reviewed cases because of a significant difference in management strategies, but we can conclude that early surgery after adequate supportive care is an acceptable modality of treatment and must be chosen in the face of life-threatening conditions.
Asunto(s)
Apendicitis/complicaciones , Apendicitis/terapia , Neutropenia/complicaciones , Adolescente , Apendicitis/cirugía , Niño , Preescolar , Diagnóstico por Imagen , Femenino , Humanos , Lactante , Tiempo de Internación , Masculino , Estudios Retrospectivos , Tiempo de Tratamiento , Resultado del TratamientoRESUMEN
INTRODUCTION: Duplex renal collecting system or duplex kidney (DK) commonly is associated with uropathy, with upper pole obstruction or lower pole vesicoureteral reflux (VUR). Its management is variable, ranging from therapeutic abstention to total nephrectomy. In case of damage to a single renal pole, uretero-ureteral anastomosis (UUA) is one of the surgical techniques for preserving the pathological pole. It can be performed by laparotomy, laparoscopy, or both. The aims of this study are to report the results of UUA in pathological DK, and compare outcomes depending on the surgical approach. METHODS: This is a retrospective analysis study over 20 years, from April 2002 to July 2022, including all children from 0 to 15 years old who underwent UUA for a DK. Outcome measure included per- and post-operative complications, the occurrence of urinary tract infections and ultrasound measurements during follow-up. RESULTS: Thirty-three children underwent an UUA over 20 years. The median age at diagnosis was 25 days (range: 1 day-12 years). The median age at surgery was 13 months (range: 2 months - 13 years). The sex ratio was 0.22. Prenatal diagnosis was made in 87.9 % of cases (n = 29). The left kidney was affected in 72.7 % of cases. Twenty-seven children (81.8 %) had an ectopic ureteral opening of the upper pole ureter; four children (12.1 %) had ureterocele of the upper pole and 2 children (6.1 %) had vesicoureteral reflux of the inferior pole. UUA was performed by inguinal approach (laparotomy) in 17 children (51.5 %), by laparoscopy in 9 cases (27.3 %), and by laparoscopy combined with laparotomy in 7 cases (21.2 %). The complication rate was 12.1 % (n = 4), including recurrent pyelonephritis with superior polar hydronephrosis (n = 2); iatrogenic injury of the lower pole ureter (n = 1) and a urinoma (n = 1), that all required surgical management with a polar nephrectomy. Between each surgical approach, there were no significant differences in operative time, hospital stay, complications. CONCLUSION: UUA is an effective therapeutic option in duplex kidneys as it allows the preservation of the pathological pole with low complication rates, regardless of the surgical approach.
Asunto(s)
Anastomosis Quirúrgica , Riñón , Uréter , Humanos , Estudios Retrospectivos , Femenino , Uréter/cirugía , Uréter/anomalías , Masculino , Anastomosis Quirúrgica/métodos , Niño , Preescolar , Lactante , Adolescente , Riñón/anomalías , Riñón/cirugía , Recién Nacido , Resultado del Tratamiento , Procedimientos Quirúrgicos Urológicos/métodosRESUMEN
Objective: The multidisciplinary antenatal diagnosis staff bring together practitioners who are involved in the management of the antenatal period at birth. This project was designed following the French experience to institute multidisciplinary consultation meetings for prenatal diagnosis (MCMPD) in Benin. Methods: This is a descriptive cross-sectional study examining the knowledge, attitudes, and practices of Beninese practitioners in the field of MCMPD to develop the pilot phase of the project. Results: We collected 108 participants from different specialties. Pediatricians and pediatric surgeons were in the majority at 23.9% and 16.5%, respectively. Sixty-seven percent of participants were from the public sector (n=75). One practitioner felt that it was not a good idea to implement these meetings. Almost all staff (96.2%) agreed that this meeting would have a positive impact on reducing neonatal mortality. Omphalocele (58.5%), spina bifida aperta (43.6%), and gastroschisis (34%) were the most commonly diagnosed antenatal conditions in Benin. No neonatal pathology required medical termination of the pregnancy according to 35.6% of the participants. Conclusions: The objective of reducing infant mortality due to medical and surgical pathologies is a noble one and deserves to be supported. This innovative project, developed through this study, the first of its kind in the subregion, will contribute inexorably to the achievement of the third Goal Sustainable Development.
RESUMEN
ABSTRACT: In pediatric patients, pain remains the most common complaint after surgery. This French multicenter epidemiological study (AlgoDARPEF) aimed to evaluate the use of a smartphone application (App) to assess the duration and severity of pain experienced by children undergoing outpatient surgery. Children younger than 18 years scheduled for an elective outpatient procedure in one of the participating centers were eligible. Parents were invited to provide daily information for 10 days regarding their child's pain and comfort through a smartphone App using the Parents' Postoperative Pain Measure-Short-Form (PPPM-SF). Children older than 6 years could also provide self-assessments of pain using a numerical rating scale (NRS)-11. Data regarding pain medication, preoperative anxiety, postoperative nausea and vomiting, and parent satisfaction were also analyzed. Repeated-measures analyses of variances (ANOVAs) were used to compare the self-assessments and hetero-assessments of pain. Eleven centers participated in the study, and 1573 patients were recruited. Forty-nine percentage of parents (n = 772) actually used the App at least once. In all surgeries, the average pain rating on the PPPM-SF scale did not exceed 3/10 throughout the follow-up period, as well as for 4 main surgical specialties. Age, visceral surgery, and preoperative anxiety ≥ 4/10 were identified as independent risk factors for experiencing at least 1 episode of pain ≥4/10 during the first 48 postoperative hours. Although these findings indicated that postoperative pain management seems to be satisfactory in the families who used the App, some improvements in anxiety management are suggested. This study shows that inviting parents to use a smartphone App to assess and report the quality of postoperative management in pediatric patients provides useful information. A continuous report regarding pain and adverse events over a 10-day postoperative period by a self-reporting or parent's contribution is possible. Future studies should investigate the ability of live data collection using an App to ensure fast, efficient interactions between patients and physicians.
Asunto(s)
Procedimientos Quirúrgicos Ambulatorios , Teléfono Inteligente , Procedimientos Quirúrgicos Ambulatorios/efectos adversos , Niño , Estudios de Seguimiento , Humanos , Dolor Postoperatorio/tratamiento farmacológico , Estudios ProspectivosRESUMEN
Objective: Despite recent progress in caring for patients born with esophageal atresia (EA), undernutrition and stunting remain common. Our study objective was to assess nutritional status in the first year after birth with EA and to identify factors associated with growth failure. Study design: We conducted a population-based study of all infants born in France with EA between 2010 and 2016. Through the national EA register, we collected prenatal to 1 year follow-up data. We used body mass index and length-for-age ratio Z scores to define patients who were undernourished and stunted, respectively. Factors with P < 0.20 in univariate analyses were retained in a logistic regression model. Results: Among 1,154 patients born with EA, body mass index and length-for-age ratio Z scores at 1 year were available for about 61%. Among these, 15.2% were undernourished and 19% were stunted at the age of 1 year. There was no significant catch-up between ages 6 months and 1 year. Patients born preterm (41%), small for gestational age (17%), or with associated abnormalities (55%) were at higher risk of undernutrition and stunting at age 1 year (P < 0.05). Neither EA type nor surgical treatment was associated with growth failure. Conclusion: Undernutrition and stunting are common during the first year after birth in patients born with EA. These outcomes are significantly influenced by early factors, regardless of EA type or surgical management. Identifying high-risk patient groups with EA (i.e., those born preterm, small for gestational age, and/or with associated abnormalities) may guide early nutritional support strategies.
RESUMEN
BACKGROUND: Healthcare curricula need summative assessments relevant to and representative of clinical situations to best select and train learners. Simulation provides multiple benefits with a growing literature base proving its utility for training in a formative context. Advancing to the next step, "the use of simulation for summative assessment" requires rigorous and evidence-based development because any summative assessment is high stakes for participants, trainers, and programs. The first step of this process is to identify the baseline from which we can start. METHODS: First, using a modified nominal group technique, a task force of 34 panelists defined topics to clarify the why, how, what, when, and who for using simulation-based summative assessment (SBSA). Second, each topic was explored by a group of panelists based on state-of-the-art literature reviews technique with a snowball method to identify further references. Our goal was to identify current knowledge and potential recommendations for future directions. Results were cross-checked among groups and reviewed by an independent expert committee. RESULTS: Seven topics were selected by the task force: "What can be assessed in simulation?", "Assessment tools for SBSA", "Consequences of undergoing the SBSA process", "Scenarios for SBSA", "Debriefing, video, and research for SBSA", "Trainers for SBSA", and "Implementation of SBSA in healthcare". Together, these seven explorations provide an overview of what is known and can be done with relative certainty, and what is unknown and probably needs further investigation. Based on this work, we highlighted the trustworthiness of different summative assessment-related conclusions, the remaining important problems and questions, and their consequences for participants and institutions of how SBSA is conducted. CONCLUSION: Our results identified among the seven topics one area with robust evidence in the literature ("What can be assessed in simulation?"), three areas with evidence that require guidance by expert opinion ("Assessment tools for SBSA", "Scenarios for SBSA", "Implementation of SBSA in healthcare"), and three areas with weak or emerging evidence ("Consequences of undergoing the SBSA process", "Debriefing for SBSA", "Trainers for SBSA"). Using SBSA holds much promise, with increasing demand for this application. Due to the important stakes involved, it must be rigorously conducted and supervised. Guidelines for good practice should be formalized to help with conduct and implementation. We believe this baseline can direct future investigation and the development of guidelines.
RESUMEN
BACKGROUND: Next-generation sequencing (NGS) is generally used for patients with severe disorders of sex development (DSD). However, NGS has not been applied extensively for patients with hypospadias only, and most affected children do not benefit from an etiological diagnosis. OBJECTIVE: To evaluate the clinical usefulness of NGS for patients with hypospadias, regardless of severity. DESIGN, SETTING, AND PARTICIPANTS: Prospective multicenter research included 293 children with glandular to penoscrotal hypospadias (no undescended testis and no micropenis). After excluding likely pathogenic androgen receptor (AR) variants by Sanger sequencing, an NGS panel tested 336 genes including unexplored candidates in 284 patients. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: The rate of pathogenic and likely pathogenic variants was assessed using REVEL, ClinVar, and in-house tools (Captain-ACHAB, MobiCNV, and MobiDetails). RESULTS AND LIMITATIONS: Likely pathogenic variants were identified in 16 (5.5%) patients with both Sanger sequencing and NGS taken into account. Some genes were related to DSD (AR, NR5A1, HSD17B3, and MAMLD1), but reverse phenotyping revealed two syndromic disorders with midline defects (MID1) and alteration in the retinoic acid signaling pathway (RARA). Coverage analysis revealed an 18q deletion. Identification of likely pathogenic variants increased with hypospadias severity. Other variants of unknown significance (VUSs) in genes implicated in hypogonadotropic hypogonadism, Noonan syndrome, and genital tubercle development were also identified. Genetic study mainly focused on exonic variants, and most cases remain unexplained. CONCLUSIONS: NGS reveals minor forms of DSD, undiagnosed syndromes, or candidate rare variants in new genes, indicating that even patients with mild hypospadias benefit from advanced sequencing techniques. Early molecular diagnosis would help improve follow-up at puberty and medical counseling for initially undiagnosed syndromes. Future studies will improve the diagnosis by investigating the contribution of VUSs. PATIENT SUMMARY: Next-generation sequencing enables simultaneous testing of numerous genes and should not be limited to disorders of sex development cases. Even patients with mild hypospadias would benefit from early diagnosis of a genetic defect implicated in sex development or other syndromes.
Asunto(s)
Trastornos del Desarrollo Sexual , Hipogonadismo , Hipospadias , Niño , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Hipospadias/diagnóstico , Hipospadias/genética , Masculino , Mutación , Estudios Prospectivos , SíndromeRESUMEN
INTRODUCTION: Urinary tract infections occur in around 1%-4% of boys and 3%-8% of girls under 2 years old. Diagnosis is difficult because of non-specific symptoms and the risk of urine analysis contamination depending on the sampling method used for precontinent infants. The American Academy of Pediatrics recommend transurethral catheterisation and suprapubic aspiration because of a low contamination rate but these techniques are invasive. On the other hand, while the National Institute for Health and Care Excellence advocate clean catch urine for its minimal invasiveness and acceptable contamination rate, it is difficult to accomplish in precontinent infants. Two recent methods have been described: the Quick-Wee method by Kaufman et al (suprapubic stimulation with cold saline-soaked gauze); and bladder stimulation by Herreros et al then by Tran et al (pubic tapping alternating with lumbar massage). This study aims to compare the effectiveness in collecting midstream urine by bladder stimulation vs the Quick-Wee method in infants under 1 year, before walking. METHODS AND ANALYSIS: This study is a multicentre randomised controlled trial of 230 infants under 1 year and before walking who need urine analysis, conducted in four paediatric emergency departments in France. Patients will be randomised into two groups: bladder stimulation and Quick-Wee method.The primary endpoint will be the success rate of voiding at least 2 mL of urine in less than 5 min.Secondary outcomes are the time to collect at least 2 mL of urine, comfort, quality of urine and the risk factors associated with failure of the two techniques. ETHICS AND DISSEMINATION: The study protocol was approved by the French national ethic committee (consultative committee of the protection of persons). The results of the study will be published in a peer-reviewed journal. TRIAL REGISTRATION NUMBER: Clinical Trials Registry - NCT04587999. DATE AND PROTOCOL VERSION IDENTIFIER: October 2020, V.1.
Asunto(s)
Vejiga Urinaria , Infecciones Urinarias , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Estudios Multicéntricos como Asunto , Ensayos Clínicos Controlados Aleatorios como Asunto , Urinálisis , Micción , Toma de Muestras de OrinaRESUMEN
BACKGROUND AND OBJECTIVES: Respiratory diseases are common in children with esophageal atresia (EA), leading to increased morbidity and mortality in the first year. The primary study objective was to identify the factors associated with readmissions for respiratory causes in the first year in EA children. METHODS: A population-based study. We included all children born between 2008 and 2016 with available data and analyzed factors at birth and 1 year follow-up. Factors with a P value <.10 in univariate analyses were retained in logistic regression models. RESULTS: Among 1460 patients born with EA, 97 (7%) were deceased before the age of 1 year, and follow-up data were available for 1287 patients, who constituted our study population. EAs were Ladd classification type III or IV in 89%, preterm birth was observed in 38%, and associated malformations were observed in 52%. Collectively, 61% were readmitted after initial discharge in the first year, 31% for a respiratory cause. Among these, respiratory infections occurred in 64%, and 35% received a respiratory treatment. In logistic regression models, factors associated with readmission for a respiratory cause were recurrence of tracheoesophageal fistula, aortopexy, antireflux surgery, and tube feeding; factors associated with respiratory treatment were male sex and laryngeal cleft. CONCLUSIONS: Respiratory morbidity in the first year after EA repair is frequent, accounting for >50% of readmissions. Identifying high risk groups of EA patients (ie, those with chronic aspiration, anomalies of the respiratory tract, and need for tube feeding) may guide follow-up strategies.
Asunto(s)
Atresia Esofágica/epidemiología , Readmisión del Paciente/estadística & datos numéricos , Trastornos Respiratorios/epidemiología , Estudios de Cohortes , Anomalías Congénitas/epidemiología , Nutrición Enteral , Femenino , Estudios de Seguimiento , Francia/epidemiología , Reflujo Gastroesofágico/epidemiología , Humanos , Lactante , Recién Nacido Pequeño para la Edad Gestacional , Masculino , Nacimiento Prematuro , Sistema de Registros , Fístula Traqueoesofágica/epidemiologíaRESUMEN
PURPOSE: To describe the most severe casualties from the July 14th, 2016 terror attack in Nice that were treated at the Lenval University Children's Hospital (LUCH) of Nice (France). METHODS: Retrospective study about casualties treated at LUCH from Bastille Day Attack with injuries resulting in the need for surgery, resuscitation, or death. The type of lesions and surgery, duration of hospitalizations, complications, psychological status, and outcome at discharge were collected. RESULTS: Eleven patients presented severe traumas including three adults. They were triaged and managed first by the Critical Care Physician on duty and by emergency room nurses with no additional staff. Six pediatric casualties needed surgery; seven patients were hospitalized in Pediatric Intensive Care Unit (PICU). Five deaths were reported. The most relevant injuries were: pelvic disjunction, lower limb fracture, vascular injuries, and head or trunk crush. As soon as it was possible, two surgeons attended the emergency room (ER) to help carry out the triage. Overall we performed twenty-eight surgeries, including two neurological, one vascular, and five orthopedic. We performed closed reduction and internal fixation (CRIF) in three cases of limb fractures. A compartment syndrome was observed. Stress disorders were observed in three patients, which merited psychiatric support and treatment. CONCLUSION: We faced uncommon situations with severe casualties without pre-hospital management. The presence of adult patients and unusual lesions increased the complexity. The presence of surgeons in the ER seemed useful for effective clinical decision-making. CRIF has been a valid option for damage control. Competence in vascular, neurological, major trauma surgery and psychic trauma should be available in any pediatric trauma center.
Asunto(s)
Servicios Médicos de Urgencia/organización & administración , Hospitalización/estadística & datos numéricos , Incidentes con Víctimas en Masa/estadística & datos numéricos , Trastornos por Estrés Postraumático/epidemiología , Heridas y Lesiones/epidemiología , Adulto , Anciano de 80 o más Años , Niño , Preescolar , Femenino , Humanos , Puntaje de Gravedad del Traumatismo , Masculino , Informática Médica , Estudios Retrospectivos , Trastornos por Estrés Postraumático/rehabilitación , Trastornos por Estrés Postraumático/terapia , Terrorismo , Triaje/métodos , Heridas y Lesiones/rehabilitación , Heridas y Lesiones/terapiaRESUMEN
BACKGROUND/PURPOSE: To implement resident curriculum in France based on theoretical teaching and bed side training, the national council known as the "Collège Hospitalier et Universitaire de Chirurgie Pédiatrique" examined the relevance and feasibility of systematically introducing simulation program in the pediatric surgery resident training. MATERIAL AND METHODS: A national simulation training program was developed and took place in a 2-day session organized in 7 simulation centers in France. The program included technical (laparoscopic/suturing technique on low-fidelity models) and nontechnical (6 scenarios for standardized consultation, and a team work scenario based on errors prevention in the operative room) skills. Evaluation of the program (Likert scale from 1 (bad) to 5 (excellent) and notation on 20 points) concerned trainees and trainers. RESULTS: 40 residents (95% of all pediatric surgery French residents) attended with a ratio of trainees/trainer of ½. The training objectives earned a score of 4.46/5. The pedagogical value of the seminar scored 4.7/5, teaching quality 17.95/20, and the overall seminar score was 17.35/20. CONCLUSION: This program, unique nationally, was assessed very favorably by the participating residents and by the involved trainers. To our knowledge, it represents the first mandatory national simulation training program included within a surgical training model. LEVEL OF EVIDENCE: Level IV.
Asunto(s)
Cirugía General/educación , Internado y Residencia/métodos , Entrenamiento Simulado/métodos , Niño , Competencia Clínica/estadística & datos numéricos , Curriculum , Francia , Humanos , Modelos Anatómicos , Médicos , Evaluación de Programas y Proyectos de Salud/métodosRESUMEN
On July 14, 2016, a terrorist attack by truck occurred in Nice, France, during the traditional fireworks for Bastille Day. The authors present the point of view of the doctors from Lenval University Children's Hospital, which is located near the attack place and which had to manage 47 casualties, including 12 adults.