Evaluation of esophageal motility using multichannel intraluminal impedance in healthy children and children with gastroesophageal reflux: comments

Abstract OBJECTIVE: : Multichannel intraluminal impedance (MII) directly evaluates esophageal bolus transport. There is a good correlation between MII and manometry in healthy adults, but there are no reports concerning children.The aim of the present study was to determine normal values of esophageal motility using only impedance measurements in healthy children and in a pediatric population with gastroesophageal reflux (GER). PATIENTS AND METHODS: : We described in the present study 60 children submitted to pH-MII for 24 hours for suspected GER. Patients were divided into 2 different groups on the basis of their pH-MII report. Group 1 patients showed acid GER, whereas group 2 patients had negative pH-MII analysis for GER despite symptoms. We described impedance reflux and motility parameters on 10 standardized swallows: number of reflux, mean acid clearing time, median bolus clearing time, bolus presence time, total bolus transit time, segmental transit time, and total propagation velocity. RESULTS: : In group 1, the median mean acid clearing time was 151 seconds, whereas the median mean bolus clearing time was 25 seconds. In group 2 patients, all of the reflux parameters were normal. In group 1 the median bolus presence time at each measuring site, the median total bolus transit time, and the median segmental transit time were significantly greater and total propagation velocity lower than values reported in group 2 (P < 0.001), if compared with those described for adult patients. CONCLUSIONS: : The pH-MII is an ideal test in children because it studies GER with its characteristics and motility pattern. Our report summarizes for the first time impedance motility parameters in healthy children

Laparoscopic Surgery of Deferential Reflux in Pediatric and Adolescent Varicocele

BACKGROUND: This study aimed to assess whether deferential reflux in pediatric and adolescent varicocele can be successfully treated laparoscopically. MATERIALS AND METHODS: Since 2001 at our institution, 148 boys were evaluated for a left varicocele. Preoperatively,all the patients underwent ultrasound scan assessment of testicular volume and color-Doppler US (CDUS)to rule out reflux into the internal spermatic vein (ISV), deferential vein, or cremasteric vein. Boys with ISV reflux were treated by laparoscopic transperitoneal Palomo; boys with isolated deferential reflux or associated to ISV reflux were laparoscopically managed adding to the former procedure, coagulation or clipping of refluxing deferential veins. RESULTS: Reflux in both the ISV and the deferential vein was observed in 21 (14.1%) out 148 boys with varicocele.Only one case (0.6%) of varicocele was caused by an isolated deferential reflux. No reflux in the cremasteric vein was observed. After a median follow up period of 2 years (range, 6 months-5 years), none of our patients with deferential reflux experienced varicocele recurrence either clinically or according to CDUS scanning.No testicular atrophy was observed. CONCLUSION: Our diagnostic approach is a rigorous standard for identifying all the venous systems concurring with the varicocele. Our proposed technique with laparoscopic interruption or coagulation of deferential veins when proved by CDUS to be refluxing may allow successful treatment for most varicoceles. This method allows reduction in recurrence of varicocele due to a missed deferential reflux

Evolving management of adolescent varicocele

OBJECTIVE: To review the evolution in indications for treatment and treatment modalities for adolescent varicocele at our centre, and evaluate the impact of varicocelectomy on final outcome. PATIENTS AND METHODS: Between 1995 and 2006, we treated 242 left varicoceles. Preoperative assessment included clinical evaluation, measurement of testicular volumes, and colour-Doppler ultrasound (CDUS). A subinguinal varicocelectomy was performed in 124 patients (group A), and a laparoscopic non-artery-sparing Palomo procedure in the remaining 118 (group B). In group B patients, CDUS was also used to investigate the functional anatomy of varicocele, and all the veins found to be refluxing were divided during surgery. The two groups were compared with regard to indications for surgery and outcome. RESULTS: Over time the proportion of patients operated on because of testicular growth retardation increased. Persistence/recurrence rate was comparable between the two groups. In 13% of group B patients, the deferential vein was found to be refluxing on preoperative CDUS and was divided at surgery. Hydrocele rate was higher in group A, unless the vaginalis was excised and everted during varicocelectomy. About 75% of patients with preoperative left testicular growth failure experienced postoperative catch-up growth, irrespective of treatment. CONCLUSION: Indications for treatment are still evolving. Varicocele can successfully be treated in the majority of cases by either a laparoscopic or subinguinal approach. Both techniques require care, and CDUS can aid in the decision making. Most patients with preoperative testicular growth failure experience postoperative catch-up growth

Unilateral multicystic dysplastic kidney in infants exposed to antiepileptic drugs during pregnancy

Prenatal exposure to antiepileptic drugs (AEDs) increases the risk of major congenital malformations (MCM) in the fetus. AED-related abnormalities include heart and neural tube defects, cleft palate, and urogenital abnormalities. Among the various congenital anomalies of the kidney and urinary tract (CAKUT), multicystic dysplastic kidney (MCDK) disease is one of the most severe expressions. Although prenatal ultrasound (US) examination has increased the prenatal diagnosis of MCDK, the pathogenesis is still unclear. We report on four cases of MCDK in infants of epileptic women treated with AEDs during pregnancy. From October 2003 to June 2006, we observed four infants with unilateral MCDK born to epileptic women. Three patients were considered to have typical features of multicystic dysplastic kidney, and one infant was operated because of a cystic pelvic mass in the absence of a kidney in the left flank. The macroscopic appearance of this mass showed an ectopic multicystic kidney confirmed by histological findings. All patients have been studied by US scans, voiding cystourethrogram (VCUG), and radionuclide screening isotope imaging. The prenatal exposure to AEDs increases the risk of major congenital malformations from the background risk of 1-2% to 4-9%. AEDs may determine a defect in apoptosis regulation that could lead to abnormal nephrogenesis, causing MCDK. Carbamazepine (CBZ) and phenobarbital (PHB) during pregnancy should be used at the lowest dosage compatible with maternal disease. The reduction, or even suspension, of drug dosage should be achieved from the periconceptional period to the first 8 weeks of gestation to avoid any interference with organogenesis

The hairy elbows syndrome: clinical and neuroradiological findings.

The hairy elbows syndrome (HES) is a rare congenital phenotype characterized by an abnormal increase in long hairs localized on the upper limbs extensor surfaces. This feature is often associated with short stature, facial asymmetry, dysmorphisms, intrauterine growth retardation (IUGR), and mental and speech delay. We report a case with hypertricosis cubiti associated with infantile spasms, behaviour disorders and cerebral hemisphere asymmetry. Although these findings have not been previously described we are uncertain whether they are unusual or underestimated. However, it is likely that these neurological findings are strongly interrelated leading to a more severe phenotype of the syndrome

Efficacy of periportal infiltration and intraperitoneal instillation of ropivacaine after laparoscopic surgery in children

Postoperative pain is less intense after laparoscopic than after open surgery. However, minimally invasive surgery is not a a pain-free procedure. Many trials have been done in adults using intraperitoneal and/or incisional local anesthetic, but similar studies have not yet been reported in the literature in children. Aim: The aim of this study was to evaluate the analgesic effect of periportal infiltration and intraperitoneal instillation of ropivacaine in children undergoing laparoscopic surgery. Materials and Methods: Thirty patients who underwent laparoscopic surgery were randomly allocated to one of three groups. Group A (n 10) received local infiltration of port sites with 10 mL of ropivacaine. Group B (n 10) received both an infiltration of port sites with 10 mL of ropivacaine and an intraperitoneal instillation of 10 mL of ropivacaine. Group C did not receive any analgesic treatment. The local anesthetic was always administered at the end of surgery. The degree of postoperative abdominal parietal pain, abdominal visceral pain, and shoulder pain was assessed by using a Wong-Baker pain scale and a Visual Analog Scale (VAS) at 3, 6 12, and 24 hours postoperatively. The following parameters were also evaluated: rescue analgesic treatment, length of hospital stay, and time of return to normal activities. Results: Three hours after operation, patients had low pain scores. Six and 12 hours postoperatively, the abdominal parietal pain was significantly higher (P 0.0005) in group C than in the other two groups, both treated with an infiltration at the trocar sites; mean intensity of abdominal visceral pain was significantly lower (P 0.0005) in group B than in groups A and C; the overall incidence of shoulder pain was significantly lower (P 0.0005) in group B patients than in patients of groups A and C. At 20 hours postoperatively, pain scores were significantly reduced of intensity in all groups. Rescue analgesic treatment was significantly higher in group C, if compared to groups A and B 12 hours after the operation. No statistically significant difference was found in length of hospital stay, but children who received analgesic treatment had a more rapid return to normal activities than untreated patients (P 0.0005). Conclusions: Our study demonstrates that the combination of local infiltration and intraperitoneal instillation of ropivacaine is more effective for pain relief in children after laparoscopic surgery than the administration of ropivacaine only at the trocar sites

A simple technique of oblique anastomosis can prevent stricture formation in primary repair of esophageal atresia

Background: Anastomotic stricture is an important problem after esophageal atresia (EA) repair. This study evaluates a technique of oblique esophageal anastomosis without use of a flap in order to prevent stricture formation. Methods: Medical records of 16 patients (14 with EA type III and 2 with EA type IV Ladd-Gross classification) who underwent primary repair of EA at birth without anastomotic tension were reviewed, evaluating long-term follow-up results. All patients were studied with esophageal contrast study, pH-multichannel intraluminal impedance, and endoscopy. The incidence of complications and their management were analysed. Results: Contrast esophagogram and esophagoscopy always showed regular patency of the suture line. Conclusions: Our technique of oblique anastomosis is simple, safe, and effective in preventing stricture formation even in the long-term follow-up

Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2K2 gene

Background: Cardio-facio-cutaneous syndrome (CFCS) belongs to RASopathies, a group of conditions caused by mutations in genes encoding proteins of the rat sarcoma/mitogen-activated protein kinase (RAS/MAPK) pathway. It is a rare syndrome, with about 300 patients reported. Main clinical manifestations include facial dysmorphisms, growth failure, heart defects, developmental delay, and ectodermal abnormalities. Mutations (mainly missense) of four genes (BRAF, MAP 2 K1, MAP 2 K2, and KRAS) have been associated to CFCS. However, whole gene deletions/duplications and chromosomal microdeletions have been also reported. Specifcally, 19p13.3 deletion including MAP 2 K2 gene are responsible for cardio-facio-cutaneous microdeletion syndrome, whose afected subjects show more severe phenotype than CFCS general population. Case presentation: Hereby, we report on a female newborn with prenatal diagnosis of omphalocele, leading to further genetic investigations through amniocentesis. Among these, array comparative genomic hybridization (a-CGH) identifed a 19p13.3 microdeletion, spanning 1.27Mb and including MAP 2 K2 gene. Clinical features at birth (coarse face with dysmorphic features, sparse and friable hair, cutaneous vascular malformations and hyperkeratotic lesions, interventricular septal defect, and omphalocele) were compatible with CFCS diagnosis, and further postnatal genetic investigations were not considered necessary. Soon after discharge, at around 1month of life, she was readmitted to our Neonatal Intensive Care Unit due to repeated episodes of vomiting, subtending a hypertrophic pyloric stenosis (HPS) which was promptly identifed and treated. Conclusions: Our report supports the 19p13.3 microdeletion as a contiguous gene syndrome, in which the involvement of the genes contiguous to MAP 2 K2 may modify the patients’ phenotype. It highlights how CFCS afected subjects, including those with 19p13.3 deletions, may have associated gastrointestinal defects (e.g., omphalocele and HPS), providing further data on 19p13.3 microdeletion syndrome, and a better characterization of its genomic and phenotypic features. The complex clinical picture of such patients may be worsened by additional, and even precocious, life-threatening conditions like HPS. Clinicians must consider, anticipate and/or promptly treat possible medical and surgical complications, with the aim of reducing adverse outcomes. Extensive diagnostic work-up, and early, continuous, and multidisciplinary follow-up, as well as integrated care, are necessary for the longitudinal clinical evolution of any single patient

Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?

Background: VATER association was first described in 1972 by Quan and Smith as an acronym which identifies a non-random co-occurrence of Vertebral anomalies, Anal atresia, Tracheoesophageal fistula and/or Esophageal atresia, Radial dysplasia. It is even possible to find out Cardiovascular, Renal and Limb anomalies and the acronym VACTERL was adopted, also, embodying Vascular, as single umbilical artery, and external genitalia anomalies. Methods: Data on patients with esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) admitted in the Neonatal Intensive Care Unit (NICU) between January 2003 and January 2013 were evaluated for the contingent occurrence of typical VACTERL anomalies (VACTERL-type) and non tipical VACTERL anomalies (non-VACTERL-type). The inclusion criterion was the presence of EA with or without TEF plus two or more of the following additional malformations: vertebral defects, anal atresia, cardiovascular defects, renal anomalies and lower limb deformities, like radial dysplasia. Results: Among 52 patients with EA/TEF, 20 (38,4%) had isolated EA and 7 (21,8%) had a recognized etiology such a syndrome and therefore were excluded. Among 32 infants with EA and associated malformations, 15 (46,8%) had VACTERL association. The most common anomalies were congenital heart defects (73,3%), followed by vertebral anomalies (66,6%). Many patients also had additional non-VACTERL-type defects. Single umbilical artery was the most common one followed by nervous system abnormalities and anomalies of toes. Between the groups of infants with VACTERL type and non-VACTERL-type anomalies, there are several overlapping data regarding both the tipically described spectrum and the most frequently reported non-VACTERL-type malformations. Thus, it is possible to differentiate infants with a full phenotype (VACTERL full phenotype) and patients that do not meet all the criteria mentioned above, but with some homologies with the first group (VACTERL partial phenotype). Conclusion: The high frequency of non-VACTERL-type anomalies encountered in full and partial phenotype patients would suggest the need for an extension of the clinical criteria for the diagnosis of VACTERL association and also for pre- and post-operative management and follow-up in the short and long term