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1.
Pediatr Res ; 95(4): 901-911, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37978315

RESUMEN

In the last few years, current evidence has supported the use of point-of-care ultrasound (POCUS) for a number of diagnostic and procedural applications. Considering the valuable information that POCUS can give, we propose a standardized protocol for the management of neonates with a congenital diaphragmatic hernia (CDH-POCUS protocol) in the neonatal intensive care unit. Indeed, POCUS could be a valid tool for the neonatologist through the evaluation of 1) cardiac function and pulmonary hypertension; 2) lung volumes, postoperative pleural effusion or pneumothorax; 3) splanchnic and renal perfusion, malrotations, and/or signs of necrotizing enterocolitis; 4) cerebral perfusion and eventual brain lesions that could contribute to neurodevelopmental impairment. In this article, we discuss the state-of-the-art in neonatal POCUS for which concerns congenital diaphragmatic hernia (CDH), and we provide suggestions to improve its use. IMPACT: This review shows how point-of-care ultrasound (POCUS) could be a valid tool for managing neonates with congenital diaphragmatic hernia (CDH) after birth. Our manuscript underscores the importance of standardized protocols in neonates with CDH. Beyond the well-known role of echocardiography, ultrasound of lungs, splanchnic organs, and brain can be useful. The use of POCUS should be encouraged to improve ventilation strategies, systemic perfusion, and enteral feeding, and to intercept any early signs related to future neurodevelopmental impairment.


Asunto(s)
Hernias Diafragmáticas Congénitas , Recién Nacido , Humanos , Hernias Diafragmáticas Congénitas/diagnóstico por imagen , Hernias Diafragmáticas Congénitas/terapia , Sistemas de Atención de Punto , Pulmón/patología , Ultrasonografía , Mediciones del Volumen Pulmonar
2.
Pediatr Surg Int ; 40(1): 176, 2024 Jul 05.
Artículo en Inglés | MEDLINE | ID: mdl-38967682

RESUMEN

PURPOSE: Daily postoperative anal dilations after endorectal pull-through for Hirschsprung disease (HD) are still considered a common practice. We analyzed the potential risks of this procedure and its effectiveness compared to a new internal protocol. METHODS: All infants (< 6 months of age) who underwent transanal endorectal pull-through between January 2021 and January 2023 were prospectively enrolled in a new postoperative protocol group without daily anal dilations (Group A) and compared (1:2 fashion) to those previously treated by postoperative anal dilations (Group B). Patients were matched for age and affected colonic tract. Patients with associated syndromes, extended total intestinal aganglionosis, and presence of enterostomy were excluded. Outcomes considered were: anastomotic complications (stenosis, disruption/leakage), incidence of enterocolitis, and constipation. RESULTS: Eleven patients were included in group A and compared to 22 matched patients (group B). There were no significant differences in the occurrence of anastomotic complications between the two groups. We found a lower incidence of enterocolitis and constipation among group A (p = 0.03 and p = 0.02, respectively). CONCLUSION: A non-dilation strategy after endorectal pull-through could be a feasible alternative and does not significantly increase the risk of postoperative anastomotic complications. Moreover, some preliminary advantages such as lower enterocolitis rate and constipation should be further investigated.


Asunto(s)
Enfermedad de Hirschsprung , Complicaciones Posoperatorias , Humanos , Enfermedad de Hirschsprung/cirugía , Lactante , Masculino , Femenino , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/prevención & control , Estudios Prospectivos , Recién Nacido , Enterocolitis/etiología , Enterocolitis/prevención & control , Enterocolitis/epidemiología , Cuidados Posoperatorios/métodos , Canal Anal/cirugía , Procedimientos Quirúrgicos del Sistema Digestivo/métodos
3.
Pediatr Surg Int ; 40(1): 124, 2024 May 07.
Artículo en Inglés | MEDLINE | ID: mdl-38713441

RESUMEN

PURPOSE: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a well described clinical condition, but reports are focused on microcolon and intestinal hypoperistalsis, while data on bladder management are scant. Aim of the study is to present urological concerns in MMIHS. METHODS: Retrospective evaluation of clinical data on urological management of MMIHS patients treated in the last 10 years. RESULTS: Six patients were enrolled (3 male, 3 female). Three girls had prenatal diagnosis of megacystis (1 vesicoamniotic shunt was placed). All patients had genetic diagnosis: 5 had ACTG2 gene mutations and 1 MYH11 mutation. All patients were addressed to our attention for urinary symptoms, such as urinary retention, urinary tract infections, acute renal injury. Two patients presented frequent stoma prolapses. All children underwent a complete urological evaluation, and then started a bladder management protocol (clean intermittent catheterization, via urethra or cystostomy-tube placement), with improvement of urinary infections, upper urinary tract dilation and stoma prolapses, if present. All patients had good renal function at last follow-up. CONCLUSION: We believe that MMIHS patients must be addressed soon and before onset of symptoms for a multidisciplinary evaluation, including an early assessment by a pediatric urologist expert in functional disorder, to preserve renal function at its best.


Asunto(s)
Anomalías Múltiples , Colon , Colon/anomalías , Seudoobstrucción Intestinal , Vejiga Urinaria , Vejiga Urinaria/anomalías , Humanos , Femenino , Estudios Retrospectivos , Masculino , Anomalías Múltiples/cirugía , Colon/cirugía , Vejiga Urinaria/cirugía , Lactante , Seudoobstrucción Intestinal/cirugía , Seudoobstrucción Intestinal/diagnóstico , Recién Nacido , Preescolar , Mutación
4.
Pediatr Surg Int ; 40(1): 53, 2024 Feb 10.
Artículo en Inglés | MEDLINE | ID: mdl-38340215

RESUMEN

INTRODUCTION: Over the years, congenital lung malformations (CLM) management remains a controversial topic in pediatric thoracic surgery. The Italian Society of Pediatric Surgery performed a national survey to study the current management variability among centers, trying to define national guidelines and a standardized approach of children with congenital lung malformations. METHODS: Following a National Society approval, an electronic survey including 35 items on post-natal management was designed, focusing on surgical, anesthesiology, radiology and pneumology aspects. The survey was conducted contacting all pediatric surgical units performing thoracic surgery. RESULTS: 39 pediatric surgery units (97.5%) participated in the study. 13 centers (33.3%) were classified as high-volume (Group A), while 26 centers (66.7%) were low volume (Group B). Variances in diagnostic imaging protocols were observed, with Group A performing fewer CT scans compared to Group B (p = 0.012). Surgical indications favored operative approaches for asymptomatic CLM and pulmonary sequestrations in both groups, while a wait-and-see approach was common for congenital lobar emphysema. Surgical timing for asymptomatic CLM differed significantly, with most high-volume centers operating on patients younger than 12 months (p = 0.02). Thoracoscopy was the preferred approach for asymptomatic CLM in most of centers, while postoperative long-term follow-up was not performed in most of the centers. CONCLUSION: Thoracoscopic approach seems uniform in asymptomatic CLM patients and variable in symptomatic children. Lack of uniformity in surgical timing and preoperative imaging assessment has been identified as key areas to establish a common national pattern of care for CLM.


Asunto(s)
Enfermedades Pulmonares , Anomalías del Sistema Respiratorio , Humanos , Niño , Enfermedades Pulmonares/congénito , Anomalías del Sistema Respiratorio/cirugía , Neumonectomía/métodos , Pulmón/diagnóstico por imagen , Pulmón/cirugía , Pulmón/anomalías , Italia , Estudios Retrospectivos
5.
Pediatr Surg Int ; 39(1): 226, 2023 Jul 06.
Artículo en Inglés | MEDLINE | ID: mdl-37410181

RESUMEN

Anorectal malformation (ARM) is often associated to other congenital malformations, requiring a tailored management. Hypospadias' treatment in ARM is poorly described. Aim of study is to describe our experience in ARM-hypospadias patients especially in relation to occult spinal dysraphism (OSD). ARM patients treated from 1999 to 2022 were retrospectively reviewed, selecting male with hypospadias. Clinical data, hypospadias's severity, ARM sub-type (Group A: perineal fistula; Group B: urethral fistula, bladder fistula, no fistula), OSD, other associated malformations, NLUTD were evaluated. Exclusion criteria: uncomplete data. Among 395 ARMs, 222 were males, 22 (10%) had hypospadias. Two patients were excluded. Group A: 8 patients, Group-B: 12. Hypospadias: proximal 9 patients, distal 11. Neuro-urological evaluation was performed before hypospadias repair. Eleven patients (55%) had OSD. Four OSD patients presented NLUTD and underwent detethering and CIC (two via cystostomy button, two via appendicostomy); two of them had hypospadias repaired. All proximal hypospadias underwent two stages of surgery. Distal hypospadias was corrected in 4/11 cases. Hypospadias is quite common in ARM patients and its surgical management must be scheduled considering the possible OSD and NLUTD, with the possible need for intermittent catheterization. Complexity of ARM and hypospadias appears to be related to each other.


Asunto(s)
Malformaciones Anorrectales , Hipospadias , Defectos del Tubo Neural , Fístula Urinaria , Humanos , Niño , Masculino , Femenino , Hipospadias/complicaciones , Hipospadias/cirugía , Malformaciones Anorrectales/complicaciones , Malformaciones Anorrectales/cirugía , Estudios Retrospectivos , Uretra/cirugía , Defectos del Tubo Neural/cirugía
6.
Pediatr Cardiol ; 43(6): 1383-1391, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35260923

RESUMEN

Herein we report the case of a neonate with a prenatally diagnosed large pulmonary arteriovenous malformation, managed with minimally invasive hemodynamic monitoring in our Neonatal Intensive Care Unit. The combination of Near-Infrared Spectroscopy and Pressure Recording Analytical Method could guide neonatal management of critical cases of vascular anomalies: immediate data are offered to clinicians, from which therapeutic decisions such as timing of surgical resection are made to achieve a positive outcome. We also systemically collected and summarized information on patients' characteristics of previous cases reported in literature to data, and we compared them to our case.


Asunto(s)
Fístula Arteriovenosa , Malformaciones Arteriovenosas , Venas Pulmonares , Fístula Arteriovenosa/diagnóstico por imagen , Fístula Arteriovenosa/cirugía , Malformaciones Arteriovenosas/diagnóstico por imagen , Malformaciones Arteriovenosas/cirugía , Hemodinámica , Humanos , Recién Nacido , Unidades de Cuidado Intensivo Neonatal , Arteria Pulmonar/anomalías , Arteria Pulmonar/diagnóstico por imagen , Arteria Pulmonar/cirugía , Venas Pulmonares/anomalías , Venas Pulmonares/diagnóstico por imagen , Venas Pulmonares/cirugía
7.
J Pediatr ; 228: 155-163.e1, 2021 01.
Artículo en Inglés | MEDLINE | ID: mdl-32918920

RESUMEN

OBJECTIVE: To analyze the findings of both multichannel intraluminal impedance with pH (MII-pH) and endoscopy/histopathology in children with esophageal atresia at age 1 year, according to current recommendations for the evaluation of gastroesophageal reflux disease (GERD) in esophageal atresia. STUDY DESIGN: We retrospectively reviewed both MII-pH and endoscopy/histopathology performed in 1-year-old children with esophageal atresia who were followed up in accordance with international recommendations. Demographic data and clinical characteristics were also reviewed to investigate factors associated with abnormal GERD investigations. RESULTS: In our study cohort of 48 children with esophageal atresia, microscopic esophagitis was found in 33 (69%) and pathological esophageal acid exposure on MII-pH was detected in 12 (25%). Among baseline variables, only the presence of long-gap esophageal atresia was associated with abnormal MII-pH. Distal baseline impedance was significantly lower in patients with microscopic esophagitis, and it showed a very good diagnostic performance in predicting histological changes. CONCLUSIONS: Histological esophagitis is highly prevalent at 1 year after esophageal atresia repair, but our results do not support a definitive causative role of acid-induced GERD. Instead, they support the hypothesis that chronic stasis in the dysmotile esophagus might lead to histological changes. MII-pH may be a helpful tool in selecting patients who need closer endoscopic surveillance and/or benefit from acid suppression.


Asunto(s)
Atresia Esofágica/cirugía , Esofagoplastia/efectos adversos , Esófago/fisiopatología , Reflujo Gastroesofágico/diagnóstico , Complicaciones Posoperatorias , Adolescente , Niño , Impedancia Eléctrica , Endoscopía Gastrointestinal , Monitorización del pH Esofágico/métodos , Esófago/metabolismo , Femenino , Estudios de Seguimiento , Reflujo Gastroesofágico/etiología , Reflujo Gastroesofágico/fisiopatología , Humanos , Masculino , Manometría , Estudios Retrospectivos , Factores de Tiempo
8.
Dis Esophagus ; 33(1)2020 Jan 16.
Artículo en Inglés | MEDLINE | ID: mdl-31907526

RESUMEN

Although eating problems have been described as long-term morbidities of esophageal atresia (EA), there have been few studies exploring eating outcomes in children born with EA as primary aim. Parents of children operated on for EA in our Institution from January 2012 to January 2016, answered a telephone structured interview developed specifically to conduct the present study, assessing eating skills at 3 years of age. Clinical data were collected from children's medical records. Parents (45 mothers and 6 fathers) of 51 children (male = 34; female = 17) with a median age of 3.5 years form the object of the study. Considering eating problems, parents reported that 23 children (45%) still have episodes of choking during meals at 3 years of age, 9 (45%) of these have more than one episode a week, and 19 parents (39%) reported higher levels of anxiety during mealtimes. Forty-four children (86%) were described by their parents as able to eat alone, 32 (65%) accepted all food textures and 45 (90%) was described as curious about food (3 years). Forty-three (86%) parents let their children eat with other people. Correlations showed that weaning age was significantly associated with number of dilatations (rs = 0.35, P = 0.012), days of mechanical ventilation (rs = 0.40, P < 0.001), and presence of gastrostomy tube at discharge (rs = 0.45, P < 0.001). Chewing age resulted associated with number of dilatations (rs = 0.34, P < 0.01) and days of mechanical ventilation (rs = 0.38, P < 0.01). Presence of choking episodes was associated with curiosity about food (rs = 0.29, P < 0.05), while frequent choking episodes were associated with higher parental anxiety during mealtimes (rs = 0.45, P < 0.05). In order to prevent delay in the achievement of eating developmental milestones in children operated on of EA, we advocate a dedicated preventive intervention from birth to follow-up.


Asunto(s)
Obstrucción de las Vías Aéreas/epidemiología , Atresia Esofágica/fisiopatología , Trastornos de Alimentación y de la Ingestión de Alimentos/epidemiología , Obstrucción de las Vías Aéreas/etiología , Preescolar , Atresia Esofágica/complicaciones , Atresia Esofágica/terapia , Conducta Alimentaria/fisiología , Trastornos de Alimentación y de la Ingestión de Alimentos/etiología , Femenino , Humanos , Masculino , Masticación/fisiología , Padres , Encuestas y Cuestionarios
9.
Am J Med Genet A ; 170(3): 707-11, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26639892

RESUMEN

Gershoni-Baruch syndrome is an extremely rare malformation complex characterized by omphalocele, diaphragmatic hernia, radial ray defects, and cardiovascular abnormalities. Autosomal recessive inheritance was suggested. To date, academic literature described only seven patients fulfilling the diagnostic criteria for the condition. None survived the neonatal period. This study reports the first individual with Gershoni-Baruch syndrome surviving past early infancy.


Asunto(s)
Enfermedades Hereditarias del Ojo/diagnóstico , Hernia Umbilical/diagnóstico , Hernias Diafragmáticas Congénitas/diagnóstico , Anomalías Múltiples , Humanos , Lactante , Masculino , Fenotipo , Radiografía Abdominal , Ultrasonografía Prenatal
10.
Fetal Pediatr Pathol ; 35(1): 37-42, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-26720091

RESUMEN

Bladder agenesis is a rare condition, mostly affecting females, where diagnosis is usually made in infancy when investigating urinary incontinence. Neonatal cases are uncommon, and none have been reported antenatally. The few male patients with this condition rarely survive: among associated anomalies, different degrees of penoscrotal transposition are the most evident feature. The association of genital transposition in a female infant with prenatal description of bladder agenesis has not been previously reported. Early diagnosis is important, enabling planning of surgical reconstruction early in life and appropriate parental counseling.


Asunto(s)
Enfermedades de los Genitales Femeninos/patología , Enfermedades de la Vejiga Urinaria/patología , Adulto , Femenino , Enfermedades de los Genitales Femeninos/diagnóstico , Enfermedades de los Genitales Femeninos/cirugía , Humanos , Lactante , Embarazo , Diagnóstico Prenatal , Resultado del Tratamiento , Enfermedades de la Vejiga Urinaria/diagnóstico , Enfermedades de la Vejiga Urinaria/cirugía
11.
J Pediatr Gastroenterol Nutr ; 58(4): 438-42, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-24231643

RESUMEN

OBJECTIVE: The patients with ultra-short bowel syndrome (U-SBS) have been considered potential candidates for a preemptive/rehabilitative intestinal transplantation owing to the high risk of death from the underlying disease. We hypothesized that children with U-SBS, in the absence of intestinal failure-associated liver disease (IFALD), could also have a good rate of survival on home parenteral nutrition (HPN). METHODS: A prospective database from the "Bambino Gesù" Artificial Nutrition and Intestinal Failure Program was used to evaluate outcomes and morbidities of consecutive patients with ≤ 10 cm of small bowel enrolled since 2000. RESULTS: Eleven patients were identified with a median bowel length of 7.5 (3-9) cm. Eight patients developed IFALD, which reversed in 7 of them; the IFALD progressively worsened in 1 patient until death. One patient underwent isolated intestinal transplantation and 1 patient is no longer receiving parenteral nutrition (PN) and both are fully enterally fed. The other patients remained at least partially dependent on HPN. The number of days of inpatient care decreased in all of the patients except for the 1 who had repeated episodes of central line infections. CONCLUSIONS: The survival of patients with U-SBS receiving HPN was good. Although IFALD was frequent, it had been manageable in most of the patients, but in a single complex case, it led to death. The multidisciplinary management warranted to these patients to approach the school age, to grow, and to maintain the oral intake. Patients with U-SBS are rare, and to better understand their long-term survival, further studies, including more large patient populations, are required.


Asunto(s)
Hepatopatías/etiología , Nutrición Parenteral en el Domicilio , Síndrome del Intestino Corto/complicaciones , Síndrome del Intestino Corto/terapia , Niño , Desarrollo Infantil , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Intestino Delgado/fisiopatología , Masculino , Estudios Retrospectivos , Síndrome del Intestino Corto/fisiopatología , Tasa de Supervivencia , Factores de Tiempo
12.
Eur J Pediatr Surg ; 34(1): 63-68, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37459887

RESUMEN

INTRODUCTION: The long-term outcomes of children who underwent surgery for congenital cystic adenomatoid malformation of the lung (CCAML) are not well documented, particularly regarding orthopaedic and respiratory follow-up (FU). The aim of this study was to assess the long-term pulmonary and orthopaedic outcomes of surgically treated CCAML in newborns, infants, and toddlers. MATERIALS AND METHODS: Retrospective examination of prospectively recorded data of consecutive patients with CCAML who underwent surgery at our tertiary referral institution from January 2000 to December 2015 (newborns, infants, and toddlers). Clinical, radiological, and surgical data, as well as FU data were revised. A multidisciplinary team followed the patients after discharge at scheduled time points. RESULTS: Seventy-seven patients were included. After surgery, patients were followed for a median of 8 years (range: 1-19 years) until they reached a median age of 8 years (range: 2-19 years). Thirty patients (39%) developed wheezing and 21 (27%) had lower respiratory tract infections (LRTIs) within 4 years of age. However, more than 50% of patients with respiratory symptoms underwent complete remission in the following 4 years. Thirty-one patients (40%) developed at least one minimal musculoskeletal deformity. Eighteen (23%) had scoliosis, 17 (22%) thoracic asymmetry, 10 (12%) pectus excavatum, and 5 (6%) winged scapula. CONCLUSIONS: Patients operated for CCAML had good overall outcomes despite pulmonary symptoms and musculoskeletal sequelae. Even though these issues are frequently paucisymptomatic, trying to use less-invasive procedures (such as minimally axillary open "muscle-sparing" thoracotomy or thoracoscopy) may reduce this burden. A structured multidisciplinary FU is required.


Asunto(s)
Malformación Adenomatoide Quística Congénita del Pulmón , Tórax en Embudo , Lactante , Humanos , Recién Nacido , Preescolar , Niño , Adolescente , Adulto Joven , Adulto , Malformación Adenomatoide Quística Congénita del Pulmón/diagnóstico por imagen , Malformación Adenomatoide Quística Congénita del Pulmón/cirugía , Estudios Retrospectivos , Pulmón/anomalías , Neumonectomía , Tórax en Embudo/cirugía
13.
Pediatr Neonatol ; 65(4): 381-385, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38163746

RESUMEN

OBJECTIVE: Congenital heart diseases (CHD) are the most frequently associated anomalies with anorectal malformations (ARM). Nevertheless, many specific aspects of CHD in ARM patients have yet to be studied. The aims of this study were to evaluate the prevalence and distribution of CHD in neonates-infants with ARM, and to explore whether the severity of ARM, and the presence of VACTERL association, had an impact on CHD rate, severity, and timing at first cardiac surgery. STUDY DESIGN: All consecutive newborn-infants with ARM managed in our tertiary center (January-1999; December-2021) were collected from a prospective database and retrospectively analyzed. Prevalence and distribution of CHD in ARM patients were assessed. Patients were divided into groups depending on ARM severity and presence of VACTERL association. Pairwise comparison for CHD prevalence, severity, and timing at first cardiac surgery was performed between groups. RESULTS: Of 396 ARM patients identified, those with severe ARM showed a higher number of overall CHD compared to patients with non-severe ARM (36.7 % vs. 25.2 %, p = 0.032). VACTERL + patients had a significantly higher prevalence of CHD (73.4 % vs. 16.4 %; p <0.001) and major CHD (51.7 % vs. 26.9 %; p = 0.008) when compared with VACTERL-patients. Furthermore, VACTERL + patients underwent first cardiac surgery at a significantly younger age than VACTERL-patients (5.2 ± 15.2 months vs. 11.9 ± 6.3, p = 0.039). CONCLUSIONS: Patients with severe ARM had a higher number of CHD compared to patients with non-severe ARM. VATERL + patients had significantly more CHD and more severe CHD than VACTERL-patients. Early screening for CHD is strongly recommended in all newborns diagnosed with ARM before surgery. LEVEL OF EVIDENCE: III retrospective comparative study.


Asunto(s)
Canal Anal , Malformaciones Anorrectales , Cardiopatías Congénitas , Deformidades Congénitas de las Extremidades , Recto , Centros de Atención Terciaria , Tráquea , Humanos , Cardiopatías Congénitas/epidemiología , Canal Anal/anomalías , Recién Nacido , Estudios Retrospectivos , Masculino , Femenino , Malformaciones Anorrectales/epidemiología , Deformidades Congénitas de las Extremidades/epidemiología , Tráquea/anomalías , Recto/anomalías , Recto/cirugía , Prevalencia , Esófago/anomalías , Esófago/cirugía , Columna Vertebral/anomalías , Índice de Severidad de la Enfermedad , Anomalías Múltiples/epidemiología , Riñón/anomalías
14.
Children (Basel) ; 11(7)2024 Jul 18.
Artículo en Inglés | MEDLINE | ID: mdl-39062322

RESUMEN

(1) Background: The use of N-acetylcysteine (NAC) to relieve meconium obstruction of prematurity in the first days of life has been reported, with NAC reducing the viscosity of luminal contents by cleaving the disulfide bonds of mucoproteins. However, its use in this population should be further explored since it has been associated with hypernatremia and transient increase in transaminases and bilirubin. (2) Methods: In this retrospective study, we included neonates admitted because of enteral feeding intolerance and intestinal obstruction from 2019 to 2021 who received NAC as a rescue therapy before explorative laparotomy. (3) Results: We summarized the clinical presentation of six preterm neonates with enteral feeding intolerance and intestinal obstruction who received NAC as a rescue therapy. Four infants (66.7%) gradually improved without the need for explorative laparotomy, whereas two infants (33.3%) underwent the creation of an ileostomy. No cases of hypernatremia or hepatic derangement associated with NAC therapy were observed. (4) Conclusions: We described the use of NAC treatment by nasogastric tube and/or rectal enemas in preterm infants with enteral feeding intolerance and intestinal obstruction after a multidisciplinary assessment, but the limited sample size did not allow us to obtain definitive conclusions and further research is needed in this field, given the limited evidence about NAC treatment in preterm infants.

15.
Horm Res Paediatr ; 2024 Apr 04.
Artículo en Inglés | MEDLINE | ID: mdl-38574486

RESUMEN

INTRODUCTION: GATA6 is a gene that encodes a transcription factor with a key role in the development of several organ systems, including the development of the pancreas. It is associated with neonatal diabetes but also with other extra-pancreatic anomalies. CASE PRESENTATION: This report describes the association of tracheoesophageal fistula (TEF), pulmonary vein stenosis (PVS), and neonatal diabetes caused by a novel mutation of the GATA6 gene in a small-for-gestational-age male neonate born at 32 weeks of gestation. Next-Generation Sequencing revealed the novel heterozygous variant c.1502C>G in the GATA6 gene, which determines the introduction of the premature stop codon p.Ser501Ter at the protein level. This de novo nonsense variant was not detected in the analyzed parental DNA samples and has not been previously described in the literature. At about two months of life, a PVS was suspected. The PVS progressively increased with the development of an intramural component, resulting in severe postcapillary pulmonary hypertension. The child died at about 4 months of life. CONCLUSION: TEF can be associated with GATA6 variants. In the case of neonatal diabetes and TEF, neonatologists should be aware of this association and should also investigate the child for complex congenital heart disorders, such as in our case, with a cardiac computed tomography.

16.
Children (Basel) ; 11(4)2024 Apr 02.
Artículo en Inglés | MEDLINE | ID: mdl-38671640

RESUMEN

BACKGROUND: Congenital h-type tracheoesophageal fistula (H-TEF) without esophageal atresia (EA) represents about 4% of congenital esophageal anomalies. The diagnosis is challenging, and surgery is considered curative. The aim was to report a national survey on the diagnosis, management, and outcome of patients with congenital H-TEF. METHODS: Following approval of the Italian Society of Pediatric Surgery, a survey was sent to all Pediatric Surgery Units to retrospectively collect H-TEF treated in the period 2010-2022. Descriptive analysis was performed, and results are given as prevalence, mean ± standard deviation (SD), or median and interquartile range (IQR). RESULTS: The survey was sent to 65 units. Seventeen responded with one or more cases; 78 patients were diagnosed with H-TEF during the study period. Associated malformations were present in 43%, mostly cardiac (31%). The most frequent symptoms were cough (36%), bronchopneumonia (24%), and dysphagia (19%). H-TEF was detected by tracheobronchoscopy (90%), and/or upper GI (58%), and/or esophagoscopy (32%). The median age at diagnosis was 23 days (1 day-18 years). The most common approach was cervicotomy (76%), followed by thoracoscopy (14%) and thoracotomy (9%). The fistula underwent ligation and section of the fistula in 90% of the patients and clip closure and section in 9%. In one patient, the fistula was cauterized endoscopically. H-TEF preoperative cannulation was performed in 68% of cases, and a drain was placed in 26%. One month after surgery, 13% of the patients had mild persisting symptoms, mainly hypophonia. Recurrence occurred in 5%, and a second recurrence occurred in 1%. CONCLUSIONS: H-TEF prevalence was six cases/year, consistent with the expected rate of five cases/year in our country. The diagnosis was challenging, sometimes delayed, and, in most patients, required multiple examinations. Fistula ligation and section through cervicotomy were the most frequent treatment. Long-term outcomes are good, and recurrence is a rare event.

17.
Pediatr Blood Cancer ; 60(1): 152-5, 2013 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-22997183

RESUMEN

Long-term tunneled central venous catheters (CVC) are employed in critically ill patients. Manufacturers do not provide patient-customized devices; therefore, trimming is required for pediatric use. Scanning Electron Microscopy (SEM) coupled with energy-dispersive X-ray spectroscopy and attenuated total reflection-Fourier transform infrared spectroscopy (ATR-FTIR) was used to assess changes induced by different trimming methods on single and double lumen Hickman-Broviac catheters. Increased roughness, exposure of inorganic macroaggreagates and increase in surface inorganic charges were generated by the trimming procedure, with the scalpel producing a smoother surface compared to scissors. Trimming produces changes on the CVC surface that may influence the rate of long-term complications.


Asunto(s)
Catéteres Venosos Centrales , Catéteres Venosos Centrales/efectos adversos , Niño , Humanos , Microscopía Electrónica de Rastreo , Espectroscopía Infrarroja por Transformada de Fourier
18.
Front Pediatr ; 11: 1194928, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37260794

RESUMEN

Background: Limited evidence exists about outcomes after gastric tube formation as "rescue" technique to avoid esophageal replacement in long gap esophageal atresia (LGEA). The last ERNICA Consensus Conference on the Management of LGEA has placed the techniques of gastric tubulization among the priorities for future research. Aims: Evaluate personal experience with Isoperistaltic Gastric Tube (IGT) and compare its outcomes with other more popular techniques for LGEA. Methods: A case-control study has been conducted. A retrospective monocentric analysis of LGEA patients (period: 2010-19) has been conducted in all consecutive IGT patients and each of these has been type matched with two cases of LGEA treated with other techniques. The follow-up (FU) considered was 24-months. Results: IGT and controls showed no statistically significant differences regarding preoperative variables like sex, gestational age, birth weight, syndromes, and EA type. However, IGT patients had a significantly longer esophageal GAP under boost pressure (4.5 vertebral bodies vs. 3.6, p = 0.019) at time of surgery. The analysis showed no statistical difference among the two groups about perioperative outcomes, ICU, or overall postoperative stay. No differences have been shown between IGT and controls during the follow-up regarding GERD, esophagitis, fundoplication, dysphagia, vocal cord paralysis, stenosis, and dilatations, auxologic data, need for anastomosis revision, oral aversion, and death. Conclusions: Isoperistaltic Gastric Tube is safe and effective even in LGEA patients with longer gaps, with good perioperative, post-operative and middle-term outcomes. This procedure may be considered as an alternative to avoid esophageal substitution when a primary anastomosis seems impossible for a residual gap after traction and growth techniques.

19.
Eur J Pediatr Surg ; 2023 Aug 09.
Artículo en Inglés | MEDLINE | ID: mdl-37557903

RESUMEN

INTRODUCTION: Neonatal ovarian simple cyst management from the pediatric surgical aspect is unclear on cyst size, follow-up, and preferred surgical approach. Therefore, this topic was selected for the 2022 Consensus Session meeting of the European Paediatric Surgeons' Association (EUPSA). METHODS: The literature was reviewed on a predefined set of questions relating to the management of the neonatal ovarian simple cysts by a panel of 7 EUPSA members, on current evidence-based opinion and practice outlined. Each question (1) outcomes of fetal interventions in neonates after birth and consensus on size/timing of intervention, (2) consensus on the type of interventions, and (3) complications in neonatal ovarian cysts and follow-up recommendations in nonoperated/operated cysts, was presented with available evidence to congress session participants. The management approach was agreed by participants and comments were accounted to formulate the consensus statement. RESULTS: There is still limited data on potential benefits and complications of prenatal ultrasound-guided aspiration; however, neonates after such procedures should be followed for 6 months. Neonates with simple ovarian cysts larger than 4 cm should be offered surgical interventions within the 2 weeks of life with complete laparoscopic cyst aspiration and fenestration with bipolar instruments being the preferred approach. Ultrasound follow-up after surgical intervention after 3 months and with the conservative approach after every 3 to 4 months until 1 year. CONCLUSION: A peer-reviewed consensus statement for the management of neonatal ovarian simple cyst was formulated based on current evidence and peer practice. The EUPSA recognizes that the statement can be useful for pediatric surgeons in decision making for this pathology.

20.
J Pediatr Surg ; 58(3): 405-411, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36150933

RESUMEN

BACKGROUND: Aim of study is to report our preliminary experience with magnetic anastomosis (magnamosis) treating long-gap esophageal atresia (LGEA), the most challenging condition of esophageal atresia continuum. Magnamosis has been reported in 20 patients worldwide as an innovative and marginally invasive option. METHODS: Prospective evaluation of all LGEA patients treated with magnamosis was performed (study registration number: 2535/2021). Main outcomes considered were demographic and surgical features, postoperative complications and feeding within 6-month of follow-up. RESULTS: Between June 2020 and January 2021, 5 LGEA patients (Type A, Gross classification) were treated. Median preoperative gap was 5 vertebral bodies. Magnetic bullets were placed at an average age of 81 days of life, leading to successful magnamosis in all cases: 4 infants had primary magnetic repair (one after thoracoscopic mobilization of the pouches), 1 patient had a delayed magnamosis after Foker's procedure. Esophageal anastomosis was achieved after an average of 8 days. No anastomotic leak was found. All patients developed anastomotic stenosis at 6-month follow-up, requiring a mean of 6 dilations each. Full oral feeding was achieved in 3 patients, while 2 were still on oral-gastrostomy feeding. One patient experienced small esophageal perforation after dilation (3 months after magnamosis), distal to the anastomotic stricture and subsequently developed oral aversion. CONCLUSIONS: Our preliminary results suggest magnamosis a safe and effective minimally invasive option in patients with LGEA. Absence of postoperative esophageal leaks may represent a major advantage of magnamosis over conventional surgery, although possible high rate of esophageal stenosis should be further evaluated. LEVELS OF EVIDENCE: IV (Case series with no comparison group).


Asunto(s)
Procedimientos Quirúrgicos del Sistema Digestivo , Atresia Esofágica , Estenosis Esofágica , Lactante , Humanos , Atresia Esofágica/cirugía , Atresia Esofágica/complicaciones , Estenosis Esofágica/etiología , Procedimientos Quirúrgicos del Sistema Digestivo/efectos adversos , Magnetismo , Anastomosis Quirúrgica/métodos , Resultado del Tratamiento
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