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1.
Artículo en Inglés | MEDLINE | ID: mdl-38975981

RESUMEN

INTRODUCTION: Debate exists regarding the ideal timing for surgery in Hirschsprung disease (HSCR) in various groups of age. The aim of this paper was to suggest a possible strategy to determine the optimal timing for reconstructive surgery in patients affected by HSCR. EVIDENCE ACQUISITION: A systematic literature search of papers published on PubMed and Embase during the last decade, addressing "Hirschsprung," "preoperative enterocolitis," "preoperative mortality," "complications," and "timing" in all possible combinations, was performed. EVIDENCE SYNTHESIS: A total of 10 out of 170 identified papers addressed this issue in detail and were subsequently assessed for in-depth analysis. Our review confirmed that the most important issue to guide surgical timing is represented by HSCR Associated Enterocolitis (HAEC). Most authors suggest performing pull-through at around 3 months of age after effective bowel decompression, which should not be continued indefinitely to avoid complications. CONCLUSIONS: Based on this systematic review we suggest the following: 1) healthy neonates should undergo surgical reconstruction at 3 months of age; 2) urgent surgery (levelling enterostomy) might be required in critically unwell patients, those with Total Colonic HSCR, or those in whom nursing proved to be ineffective; 3) surgery can be safely postponed only in older patients with a lower likelihood of HAEC (i.e. without previous HAEC occurrences) always avoiding long-lasting rectal irrigations.

2.
J Vasc Access ; : 11297298241256999, 2024 Jun 10.
Artículo en Inglés | MEDLINE | ID: mdl-38856094

RESUMEN

In pediatric patients, the choice of the venous access device currently relies upon the operator's experience and preference and on the local availability of specific resources and technologies. Though, considering the limited options for venous access in children if compared to adults, such clinical choice has a great critical relevance and should preferably be based on the best available evidence. Though some algorithms have been published over the last 5 years, none of them seems fully satisfactory and useful in clinical practice. Thus, the GAVePed-which is the pediatric interest group of the most important Italian group on venous access, GAVeCeLT-has developed a national consensus about the choice of the venous access device in children. After a systematic review of the available evidence, the panel of the consensus (which included Italian experts with documented competence in this area) has provided structured recommendations answering 10 key questions regarding the choice of venous access both in emergency and in elective situations, both in the hospitalized and in the non-hospitalized child. Only statements reaching a complete agreement were included in the final recommendations. All recommendations were also structured as a simple visual algorithm, so as to be easily translated into clinical practice.

3.
Pediatr Surg Int ; 40(1): 65, 2024 Mar 04.
Artículo en Inglés | MEDLINE | ID: mdl-38436753

RESUMEN

INTRODUCTION: Diagnostic delay in Hirschsprung disease is uncommon. Different definitions have been proposed but that of a diagnosis achieved after 12 months of age seems to be the most reliable and resorted to. Some authors reported a worse outcome in case of delay. Our study aims at providing the most relevant features of a series of patients who received a delayed diagnosis of Hirschsprung disease. MATERIALS AND METHODS: All consecutive patients admitted to our Center with a delayed diagnosis of Hirschsprung diseases between January 2017 and July 2023 have been retrospectively enrolled. Demographic data, phenotype, genotype, surgical complications, and outcome were assessed and compared to those of literature. A number of variables were also compared to those of a series of patients admitted during the same study period without a delayed diagnosis. RESULTS: A total of 45 patients were included (16.4% out of a series of 346 patients with data regarding age at diagnosis). Male to female ratio was 3.1:1. Median age at diagnosis was 41 months with a wide variation (range between 17 months and 58 years). All patients but 2 suffered from classic rectosigmoid aganglionosis. Normal meconium passage (58%) was reported in a significantly higher number of patients compared to what observed in a series without diagnostic delay (p = 0.0140). All other variables (associated anomalies, preoperative enterocolitis, complications, and functional outcome) proved not to have statistically significant differences compared to a series of patients without a diagnostic delay. CONCLUSIONS: The results of our study underline that a significant percentage of patients are basically missed in the neonatal period mostly due to mild symptoms. Overall outcome does not differ from that of patients without diagnostic delay. Nonetheless, we underline the importance of a throughout investigation of all patients with meconium delay/failure and that of adopting a low threshold for performing rectal suction biopsies in constipated children to avoid misdiagnosis to serve the best for our patients.


Asunto(s)
Enfermedad de Hirschsprung , Niño , Recién Nacido , Humanos , Femenino , Masculino , Lactante , Enfermedad de Hirschsprung/diagnóstico , Enfermedad de Hirschsprung/cirugía , Diagnóstico Tardío , Estudios Retrospectivos , Biopsia , Estreñimiento
4.
Artículo en Inglés | MEDLINE | ID: mdl-38376460

RESUMEN

BACKGROUND: Pediatric continence dysfunction is not uncommon. It causes long-term disability, impairing quality of life, activities and relationships with pears and can affect until adulthood. A high-risk population are children with Hirschsprung's disease and congenital anorectal malformation. Conservative medical and surgical management of continence dysfunction in this population is deeply described, while the rehabilitation issues are still unexplored. Aim of this study is to preliminary verify the feasibility, tolerance and effectiveness of an intensive technological aided and individualized pelvic floor rehabilitation program for pediatric patients. METHODS: This is a single-center, retrospective observational study. The assessment was performed by collecting demographic data, general and local physical examination and scoring assessment tools (Rintala Continence Score and Wexner Score). The study was conducted in the Rehabilitation Unit of the pediatric Giannina Gaslini Institute, a tertiary care pediatric hospital in Genoa (Italy) between September 2015 to August 2019. We enrolled 31 children; 25 male (80.6%) and six females (19%), aged between 5 and 14 years (mean age 9 years) at the beginning of the training. Twenty children (65.5%) had Hirschsprung's disease, and 11 children (34.5%) had a congenital anorectal malformation. The rehabilitation training program was customized on the compromised function, the anatomic characteristics, the child's age and compliance. The training was aimed at improving tone, strength, endurance of the pelvic floor, compliance and rectal sensitivity, and also the frequency of the bowel movements. All patients enrolled in the study underwent an intensive outpatient treatment lasted 5 days for children older than 7 years; 10 days for younger. The intensive rehabilitation treatment was followed by a continuous home training program. RESULTS: Twenty-nine children (96.8%) completed the training. A global improvement is observed in continence functioning in all the cohort at T1 (P<0.0001), maintained at T3 (P<0.0001) at both Rintala Continence Score and Wexner Score. No adverse effects have been referred. CONCLUSIONS: Our specific pediatric training program for pelvic floor rehabilitation is effective and safe for children with continence dysfunctions after pelvic surgery due to Hirschsprung's disease and anorectal malformations. The continence rehabilitation multimodal program should be integrated in the care of children with continence dysfunctions. It cooperates in the prevention of the long-term health global impairment and also in the reduction of social economic effort.

5.
Minerva Pediatr (Torino) ; 75(4): 482-489, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-30419742

RESUMEN

BACKGROUND: Intrasphincteric botulinum toxin (Botox) injection for symptomatic postoperative anal achalasia in Hirschsprung's disease (HSCR) has found wide application in the last twenty years. The aim of this study was to describe effectiveness and functional outcome of a series of patients treated over a 10-year period. METHODS: All consecutive HSCR patients who received intrasphincteric Botox injections between January 2007 and December 2016 were included. Demographic data and clinical features were collected. A detailed questionnaire focusing on outcome in the medium and long-term was administered to all families. RESULTS: In the study period 64 intrasphincteric Botox injections were performed in 31 patients. Completed questionnaires were returned by 27 out of 28 eligible patients (96%) reporting improvement or symptoms resolution in 16 (59%). The highest success rates were experienced by patients younger than 4, with long HSCR forms and with recurrent enterocolitis (75%, 100% and 100% of success rates, respectively). No major complications occurred. Minor complications were described by 7 patients (26%). CONCLUSIONS: Intrasphincteric Botox injection proved to be feasible, safe and reasonably effective in children with HSCR and postoperative anal achalasia. Infants and toddlers with long HSCR forms and recurrent bouts of enterocolitis are those who would benefit most from this treatment.


Asunto(s)
Toxinas Botulínicas Tipo A , Enterocolitis , Acalasia del Esófago , Enfermedad de Hirschsprung , Lactante , Humanos , Toxinas Botulínicas Tipo A/uso terapéutico , Enfermedad de Hirschsprung/cirugía , Enfermedad de Hirschsprung/complicaciones , Enfermedad de Hirschsprung/tratamiento farmacológico , Acalasia del Esófago/complicaciones , Acalasia del Esófago/tratamiento farmacológico , Resultado del Tratamiento , Enterocolitis/complicaciones , Enterocolitis/tratamiento farmacológico
6.
J Robot Surg ; 17(3): 897-904, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-36334254

RESUMEN

Robotic surgery has been increasingly applied to Hirschsprung patients with encouraging results. We report the results of a 5 year unicentric experience. All consecutive HSCR patients older than 12 months who underwent a surgical procedure with robotic approach between September 2017 and August 2022 were prospectively included. We collected data regarding demographics, extent of aganglionosis, associated anomalies, indications to surgery, and a number of perioperative data such as surgical details, intraoperative and perioperative complications, length of surgery, length of hospital stay, and functional outcome. A total of 28 patients underwent 31 robotic procedures during the study period. Median age at surgery was 82 months. Eleven primary Totally Robotic Soave Pull-Through, 12 redoes, 5 innervative mapping, 2 redundant rectal pouch excision, and 1 Miles' procedures have been performed. Median console time was 145 min. No conversion to either laparoscopy nor to laparotomy was required. Median length of hospital stay was 6 days. Two patients experienced complications requiring reiterative surgery. One patient experienced mild postoperative enterocolitis. Normal continence was achieved by 70% of patients after a median of 16 months postoperatively (80% for primary pull-throughs, 55% for redoes). To conclude, robotic surgery for older HSCR patients proved to be feasible, safe, and effective. Patients with complex surgical requirements seem to benefit most from this promising approach. Provided the economic burden is addressed and solved, robotic surgery will represent an excellent alternative for the surgical treatment of HSCR patients.


Asunto(s)
Procedimientos Quirúrgicos del Sistema Digestivo , Enfermedad de Hirschsprung , Laparoscopía , Procedimientos Quirúrgicos Robotizados , Robótica , Humanos , Niño , Enfermedad de Hirschsprung/cirugía , Enfermedad de Hirschsprung/etiología , Procedimientos Quirúrgicos Robotizados/métodos , Procedimientos Quirúrgicos del Sistema Digestivo/métodos
7.
Eur J Pediatr Surg ; 32(6): 497-503, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-35882355

RESUMEN

INTRODUCTION: This article assesses (1) access to splenic embolization (SE), (2) indications for SE, and (3) post-embolization management in high-grade splenic trauma in children. MATERIALS AND METHODS: An online questionnaire was sent in 2021 to all members of European Pediatric Surgeons' Association. RESULTS: There were a total of 157 responses (50 countries, 83% academic hospitals). Among them, 68% have access to SE (SE) and 32% do not (nSE). For a hemodynamic stable patient with high-grade isolated splenic trauma without contrast extravasation (CE) on computed tomography (CT) scan, 99% SE and 95% nSE respondents use nonoperative management (NOM). In cases with CE, NOM decreases to 50% (p = 0.01) and 51% (p = 0.007) in SE and nSE centers, respectively. SE respondents report a significant reduction of NOM in stable patients with an associated spine injury requiring urgent surgery in prone position, both without and with CE (90 and 28%, respectively). For these respondents, in stable patients the association of a femur fracture only tends to decrease the NOM, both without and with CE (93 and 39%, respectively). There was no significant difference in NOM in group nSE with associated injuries with or without CE. After proximal SE with preserved spleen vascularization on ultrasound Doppler, 44% respondents prescribe antibiotics and/or immunizations. CONCLUSION: Two-thirds of respondents have access to SE. For SE respondents, SE is used even in stable patients when CE showed on initial CT scan and its use increased with the concomitant need for spinal surgery. There is currently a variation in the use of SE and antibiotics/immunizations following SE.


Asunto(s)
Traumatismos Abdominales , Embolización Terapéutica , Cirujanos , Heridas no Penetrantes , Niño , Humanos , Bazo/diagnóstico por imagen , Estudios Retrospectivos , Heridas no Penetrantes/diagnóstico por imagen , Heridas no Penetrantes/terapia , Traumatismos Abdominales/diagnóstico por imagen , Traumatismos Abdominales/terapia , Embolización Terapéutica/métodos , Extravasación de Materiales Terapéuticos y Diagnósticos , Encuestas y Cuestionarios , Antibacterianos , Puntaje de Gravedad del Traumatismo , Centros Traumatológicos
8.
Eur J Pediatr Surg ; 32(6): 504-511, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-35073590

RESUMEN

INTRODUCTION: To investigate the current experience of the ARM-Net Consortium in the management of epididymo-orchitis (EO) in patients with anorectal malformations (ARMs), and to identify specific risk factors and the need for urological care involvement. MATERIALS AND METHODS: We retrospectively collected data of EO in patients with ARM between 2015 and 2019. Data on urological aspects, ARM type, surgical approach, associated anomalies, diagnosis, and treatment of EO were collected and analyzed. RESULTS: Twenty-nine patients were reported by 12 centers. Twenty-six patients with EO (90%) had ARM with a rectourinary fistula. Median age at first EO was 2 years (range: 15 days-27 years). Twenty patients (69%) experienced multiple EO, and 60% of recurrences were ipsilateral. Associated urological anomalies included vesicoureteral reflux (48%), urethral anomalies (41%), neurogenic bladder (41%), and ectopic vas (10%). A positive urine culture during EO was present in 69%. EO was treated with antibiotics (90%), limiting surgical exploration to 14%. Prevention of recurrences included surgery (bulking agents 15%, vasectomy 15%, and orchiectomy 5%) and antibiotic prophylaxis (20%). CONCLUSION: Urologists may encounter patients with EO in ARM patients, frequently with positive urine culture. An appropriate urologic work-up for most ARM patients is necessary to identify and treat underlying risk factors. A practical scheme for the work-up is suggested for a close collaboration between pediatric surgeons and urologists.


Asunto(s)
Malformaciones Anorrectales , Epididimitis , Orquitis , Niño , Masculino , Humanos , Recién Nacido , Orquitis/complicaciones , Orquitis/diagnóstico , Malformaciones Anorrectales/complicaciones , Malformaciones Anorrectales/cirugía , Estudios Retrospectivos , Epididimitis/complicaciones , Epididimitis/diagnóstico , Recurrencia
9.
Pediatr Surg Int ; 38(1): 83-98, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34677676

RESUMEN

BACKGROUND: Hirschsprung disease (HSCR) is a congenital anomaly of the enteric nervous system. Abnormal microbiome composition was reported in HSCR patients. In this study, we addressed and analyzed microbiome modifications with relation tosurgery and HSCR associated enterocolitis (HAEC). METHODS: The faecal microbiome of 31 HSCR patients (overall 64 samples) was analyzed. HAEC was diagnosed and classified according to a combination of Pastor's and Elhalabi's criteria. Stool samples were analyzed by 16S sequencing (7 out of 9 polymorphic regions). Compositional and relative abundance profiles, as well as the functional potentials of the microbial community, were analyzed with the marker gene sequencing profiles using PICRUSt. RESULTS: The relative abundance of Bacteroidetes showed a severe decrease with slow recovery after surgery. Conversely, Proteobacteria transiently increased their abundance. Noteworthy, a strong linkage has been found between Proteobacteria descendants and HAEC occurrences. The inferred functional analysis indicated that virulence factors and fimbriae or pili might be associated with HAEC. CONCLUSIONS: Our study, addressing microbiome dynamics, demonstrated relevant changes after surgical manipulation. Alpha-diversity analyses indicated that surgery deeply affects microbiome composition. Proteobacteria and Enterobacteriaceae seem to play a pivotal role in HAEC occurrences. Several virulence factors, such as fimbriae or pili, might explain the HAEC-predisposing potential of selected microbiomes. These results suggest some innovative therapeutic approaches that deserve to be tested in appropriate clinical trials.


Asunto(s)
Sistema Nervioso Entérico , Enterocolitis , Enfermedad de Hirschsprung , Microbiota , Heces , Enfermedad de Hirschsprung/cirugía , Humanos
10.
Eur J Pediatr Surg ; 32(5): 415-421, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34823267

RESUMEN

AIM: To evaluate the practice patterns of the European Pediatric Surgeons' Association (EUPSA) members regarding the management of primary spontaneous pneumothorax (PSP) in children. METHODS: An online survey was distributed to all members of EUPSA. RESULTS: In total, 131 members from 44 countries participated in the survey. Interventional approach (78%) is the most common choice of treatment in the first episode, and most commonly, chest tube insertion (71%) is performed. In the case of a respiratory stable patient, 60% of the responders insert chest tubes if the pneumothorax is more than 2 cm. While 49% of surgeons prefer surgical intervention in the second episode, 42% still prefer chest tube insertion. Main indications for surgical treatment were the presence of bullae more than 2 cm (77%), and recurrent pneumothorax (76%). Eighty-four percent of surgeons prefer thoracoscopy and perform excision of bullae with safe margins (91%). To prevent recurrences, 54% of surgeons perform surgical pleurodesis with pleural abrasion (55%) and partial pleurectomy (22%). The responders who perform thoracoscopy use more surgical pleurodesis and prefer shorter chest tube duration than the surgeons performing open surgery (p < 0.05). CONCLUSION: Most of the responders prefer chest tube insertion in the management of first episode of PSP and perform surgical treatment in the second episode in case of underlying bullae more than 2 cm and recurrent pneumothorax. The surgeons performing thoracoscopy use more surgical pleurodesis and prefer shorter chest tube duration than the responders performing open surgery. The development of evidence-based guidelines may help standardize care and improve outcomes in children with PSP.


Asunto(s)
Neumotórax , Cirujanos , Vesícula , Niño , Humanos , Pleurodesia , Neumotórax/cirugía , Recurrencia
11.
Artículo en Inglés | MEDLINE | ID: mdl-34748423

RESUMEN

Background: Laparoscopic partial splenectomy is a surgical option for removing part of the spleen with a pathological mass in a way that ensures preservation of the spleen's physiological functions. We aimed to evaluate the efficacy and feasibility of this procedure, performed while preserving the blood supply from the left gastroepiploic artery, in children. Materials and Methods: Following institutional review board approval, this retrospective study was conducted on patients who, between January 2015 and December 2019, underwent laparoscopic partial splenectomy with preservation of blood supply from the left gastroepiploic vessels. In the article, we described patient indications for surgery, surgical technique, surgery time, complications, and follow-up outcomes. Results: Eleven patients (mean age: 12.3 ± 3.4 years) underwent laparoscopic partial splenectomy. Indications for surgery included nonparasitic cysts (n = 8), pseudocysts (n = 2), and hamartomas (n = 1). The mean benign mass diameter was 60 ± 22 mm. The mean operative time was 193.2 ± 55.1 minutes. The mean size of the retained lower pole was 31.1% ± 3.8%. There was no conversion to open splenectomy or any significant complication. The mean postoperative stay was 9 ± 0.7 days. No thrombosis of the splenic and portal veins was noted in the follow-up period, and no splenic remnant infarction occurred. Conclusions: Laparoscopic partial splenectomy with preservation of blood supply arising from the left gastroepiploic vessels seems to be safe in children. However, a larger study is needed to confirm our results.

13.
Int J Mol Sci ; 22(8)2021 Apr 07.
Artículo en Inglés | MEDLINE | ID: mdl-33917126

RESUMEN

Hirschsprung (HSCR) Associated Enterocolitis (HAEC) is a common life-threatening complication in HSCR. HAEC is suggested to be due to a loss of gut homeostasis caused by impairment of immune system, barrier defense, and microbiome, likely related to genetic causes. No gene has been claimed to contribute to HAEC occurrence, yet. Genetic investigation of HAEC by Whole-Exome Sequencing (WES) on 24 HSCR patients affected (HAEC) or not affected (HSCR-only) by enterocolitis and replication of results on a larger panel of patients allowed the identification of the HAEC susceptibility variant p.H187Q in the Oncostatin-M receptor (OSMR) gene (14.6% in HAEC and 5.1% in HSCR-only, p = 0.0024). Proteomic analysis on the lymphoblastoid cell lines from one HAEC patient homozygote for this variant and one HAEC patient not carrying the variant revealed two well distinct clusters of proteins significantly up or downregulated upon OSM stimulation. A marked enrichment in immune response pathways (q < 0.0001) was shown in the HAEC H187 cell line, while proteins upregulated in the HAEC Q187 lymphoblasts sustained pathways likely involved in pathogen infection and inflammation. In conclusion, OSMR p.H187Q is an HAEC susceptibility variant and perturbates the downstream signaling cascade necessary for the gut immune response and homeostasis maintenance.


Asunto(s)
Susceptibilidad a Enfermedades , Enterocolitis/etiología , Enterocolitis/metabolismo , Enfermedad de Hirschsprung/complicaciones , Enfermedad de Hirschsprung/genética , Subunidad beta del Receptor de Oncostatina M/genética , Transducción de Señal , Alelos , Enterocolitis/patología , Expresión Génica , Frecuencia de los Genes , Variación Genética , Genotipo , Enfermedad de Hirschsprung/diagnóstico , Humanos , Modelos Moleculares , Subunidad beta del Receptor de Oncostatina M/química , Subunidad beta del Receptor de Oncostatina M/metabolismo , Conformación Proteica , Proteómica/métodos , Relación Estructura-Actividad , Secuenciación del Exoma , Secuenciación Completa del Genoma
14.
Pediatr Nephrol ; 36(10): 3151-3158, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-33834290

RESUMEN

BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) have been underestimated in Hirschsprung disease (HSCR). This paper aims at reporting results of patients with HSCR who underwent kidney and urinary tract assessment. METHODS: Patients seen between December 2005 and November 2020 underwent a complete kidney and urinary tract diagnostic workup. Data regarding CAKUT, gender, length of aganglionosis, familial history, HSCR-associated enterocolitis (HAEC), RET genotype, and outcome were collected. RESULTS: Out of 472 patients, 280 completed the workup and represented the focus. Male to female ratio was 3.24:1. Familial cases accounted for 9.8% of patients. RET mutations were detected in 19.8%. We encountered a total of 61 patients with 70 nephrological issues (21.8%), including 28 hypoplasia/dysplasia, 12 hydronephrosis, 11 vesicoureteric reflux, 7 duplex collecting system, 2 kidney agenesis, 2 horseshoe kidney, and 8 miscellanea, involving 91 kidneys without side preponderance (50 right, 41 left). Of these 61 patients, 20 (7.1% of the whole series) required medical or surgical treatment. When comparing patients with and without CAKUT, familial history proved to occur with a significantly lower frequency in the former as did better patient perspectives of outcome. CONCLUSIONS: We confirmed that all diagnostic workups in HSCR should include a complete kidney and urinary tract diagnostic workup. Our study suggests that genes other than RET could play a role in determining CAKUT. Given worse patient perspectives of outcome, CAKUT seems to significantly interfere with quality of life thus confirming the need for early diagnosis and tailored prevention strategies.


Asunto(s)
Sistema Urinario , Anomalías Urogenitales , Femenino , Enfermedad de Hirschsprung/diagnóstico , Enfermedad de Hirschsprung/genética , Humanos , Riñón/anomalías , Masculino , Calidad de Vida , Anomalías Urogenitales/epidemiología , Anomalías Urogenitales/genética , Reflujo Vesicoureteral
15.
Clin Genet ; 99(3): 430-436, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-33294969

RESUMEN

Variants in the ACTG2 gene, encoding a protein crucial for correct enteric muscle contraction, have been found in patients affected with chronic intestinal pseudo-obstruction, either congenital or late-onset visceral myopathy, and megacystis-microcolon-intestinal hypoperistalsis syndrome. Here we report about ten pediatric and one adult patients, from nine families, carrying ACTG2 variants: four show novel still unpublished missense variants, including one that is apparently transmitted according to a recessive mode of inheritance. Four of the remaining five probands carry variants affecting arginine residues, that have already been associated with a severe phenotype. A de novo occurrence of the variants could be confirmed in six of these families. Since a genotype-phenotype correlation is affected by extrinsic factors, such as, diagnosis delay, quality of clinical management, and intra-familial variability, we have undertaken 3D molecular modeling to get further insights into the effects of the variants here described. The present findings and further ACTG2 testing of patients presenting with intestinal pseudo-obstruction, will improve our understanding of visceral myopathies, including implications in the prognosis and genetic counseling of this set of severe disorders.


Asunto(s)
Actinas/genética , Variación Genética , Seudoobstrucción Intestinal/genética , Actinas/química , Alelos , Sustitución de Aminoácidos , Niño , Preescolar , Femenino , Estudios de Asociación Genética , Humanos , Patrón de Herencia , Seudoobstrucción Intestinal/diagnóstico , Masculino , Persona de Mediana Edad , Modelos Moleculares , Técnicas de Diagnóstico Molecular , Mutación Missense , Fenotipo , Pronóstico , Índice de Severidad de la Enfermedad
16.
Eur J Pediatr Surg ; 31(1): 8-13, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-33197945

RESUMEN

INTRODUCTION: The aim of this study was to assess the management of short-bowel syndrome (SBS) at the time of primary surgery, and the strategies used to facilitate enteral autonomy depending on the institutional expertise. MATERIALS AND METHODS: An online questionnaire was sent in 2019 to members of The European Pediatric Surgeons' Association. RESULTS: Among the 65 responding members (26 countries, 85% from university hospitals), 57% manage less than three new patients with SBS per year (group A), and 43% at least three patients (group B). The cut-off of three patients treated yearly used in our study was defined after statistical analysis of different cut-offs. A multidisciplinary intestinal rehabilitation program is significantly more frequent in group B than in group A (85 and 53%, respectively; p = 0.009). Considering the primary surgical management of multiple intestinal atresia and congenital ultra-short bowel with jejunal atresia, primary surgical strategies to optimize bowel length are more often used in group B than group A (p = 0.09 and p = 0.04, respectively). A minimum of one intestinal lengthening procedure every 2 to 3 years is significantly more frequent in group B than group A (95 and 45%, respectively; p = 0.0013). Among the strategies used to promote intestinal adaptation, group B (35%) uses significantly more often glucagon-like peptide 2 analogs than group A (10%) (p = 0.02). CONCLUSION: Based on our survey, a minimum number of SBS patients treated yearly is required to manage this challenging disease according to up-to-date medical and surgical strategies. However, whatever their level of expertise is in managing SBS, most of pediatric surgeons are involved in the primary surgery. Medical education programs about SBS should be more largely available to pediatric surgeons.


Asunto(s)
Pediatría/métodos , Síndrome del Intestino Corto/cirugía , Adaptación Fisiológica , Niño , Europa (Continente) , Femenino , Humanos , Intestino Delgado/fisiopatología , Masculino , Encuestas y Cuestionarios
17.
J Pediatr Surg ; 56(3): 569-572, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32624202

RESUMEN

INTRODUCTION: Recent reports suggested that blind laparoscopic entry techniques, including Veress needle (VN), might increase the risks of potentially fatal complications. MATERIALS AND METHODS: All consecutive patients who underwent laparoscopy in two Pediatric Hospitals with the use of a Veress needle during a 14-year period have been included. In all cases the first trocar was a radially expanding one (STEP). Complications related to the insertion technique are reported as well as those related to the whole laparoscopic technique. RESULTS: A total of 3463 patients younger than 18 years of age underwent laparoscopy between January 2006 and December 2019. Of these, 205 (5.9%) were younger than 6 months of age at surgery. Two-hundred-eighty-four patients (8.2%) previously underwent abdominal surgery. During first trocar insertion no major or minor vascular injuries occurred. Two patients (0.06%) experienced bowel lesions. Nine (0.26%) experienced failed entry. Fourteen patients (0.4%) experienced postoperative issues related to trocars positioning, namely, 9 omental eviscerations through port site insertion and 5 cases of hemoperitoneum owing to epigastric vessels lesion during operative trocar positioning. No other issues strictly related to laparoscopic entry technique have been recorded during the study period. No specific risk factors predisposing to complications have been identified but the presence of a positive history of previous abdominal procedures proved to be significantly related to a higher occurrence of bowel injury during Veress needle insertion (p = 0.0067). DISCUSSION AND CONCLUSIONS: Although with a number of biases and limitations, our study suggests that creation of pneumoperitoneum with VN combined to first trocar entry with STEP technology in children can represent a safe alternative. An exception is represented by patients who underwent previous abdominal surgeries who should be approached with caution, possibly with an open approach. Anyway, given the relatively poor quality of high-quality studies on this regard, we strongly support the implementation of well-designed RCT in children in order to answer this delicate topic. TYPE OF STUDY: Retrospective. LEVEL OF EVIDENCE: IV.


Asunto(s)
Insuflación , Laparoscopía , Agujas , Niño , Humanos , Estudios Retrospectivos , Instrumentos Quirúrgicos/efectos adversos
18.
Pediatr Med Chir ; 42(1)2020 Nov 03.
Artículo en Inglés | MEDLINE | ID: mdl-33140631

RESUMEN

In the last three decades, fetal ovarian cysts were diagnosed more frequently, due to technological improvement and the increasing use of prenatal screening ultrasound. Nonetheless, treatment uncertainties are still present, either prenatally or postnatally. Recently, significant innovations on diagnosis and treatment have been proposed and a more conservative, minimally invasive approach may be offered to the Pediatrician or the Surgeon who face with this condition during prenatal or neonatal age. (...).


Asunto(s)
Procedimientos Quirúrgicos Mínimamente Invasivos/métodos , Quistes Ováricos/cirugía , Cirugía Asistida por Video/métodos , Femenino , Humanos , Recién Nacido , Italia , Quistes Ováricos/diagnóstico por imagen , Embarazo , Ultrasonografía Prenatal/métodos
20.
Ital J Pediatr ; 46(1): 134, 2020 Sep 16.
Artículo en Inglés | MEDLINE | ID: mdl-32938472

RESUMEN

INTRODUCTION: This is the report of the first official survey from the Italian Society of Pediatric Surgery (ISPS) to appraise the distribution and organization of bedside surgery in the neonatal intensive care units (NICU) in Italy. METHODS: A questionnaire requesting general data, staff data and workload data of the centers was developed and sent by means of an online cloud-based software instrument to all Italian pediatric surgery Units. RESULTS: The survey was answered by 34 (65%) out of 52 centers. NICU bedside surgery is reported in 81.8% of the pediatric surgery centers. A lower prevalence of bedside surgical practice in the NICU was reported for Southern Italy and the islands than for Northern Italy and Central Italy (Southern

Asunto(s)
Unidades de Cuidado Intensivo Neonatal , Pautas de la Práctica en Medicina/estadística & datos numéricos , Procedimientos Quirúrgicos Operativos , Humanos , Recién Nacido , Recien Nacido Prematuro , Italia , Sociedades Médicas , Encuestas y Cuestionarios
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