Paola Midrio

Neonatal ovarian cysts : management and follow-up

Abstract Twenty-seven neonatal ovarian cysts were diagnosed in utero during a 13-year period; 9 were complicated and 18 were initially simple, but 8/18 showed evidence of complications in utero or soon after birth, leaving only 10 simple cysts. One simple and 4 complicated cysts were surgically excised early in the study period; 2 simple cysts were treated by needle aspiration at birth because of their large size. The remaining 20 cases were initially managed conservatively. All simple cysts and 10/13 complicated cysts regressed completely within 12 months; 3 that failed to regress were surgically excised. Nineteen patients who did not undergo a laparotomy had ultrasonographic (US) examinations from 3 months to 9 years after birth. Echography showed both ovaries in all 9 girls who had simple cysts at birth and in 2 of the 10 with complications. In the other 8 complicated cases only one ovary was detected at follow-up. Pre- or post-natal aspiration of simple cysts 4 cm or more in diameter is recommended, while conservative management seems appropriate in the absence of symptoms for simple cysts of less than 4 cm and complicated cysts of any size tending to involute after birth.

A dual stable isotope tracer method for the measurement of surfactant disaturated-phosphatidylcholine net synthesis in infants with congenital diaphragmatic hernia.

The aim of the study was to measure for the first time in humans surfactant disaturated-phosphatidylcholine (DSPC) net synthesis and kinetics by using a novel, dual stable isotope tracer approach. Ten infants with congenital diaphragmatic hernia [CDH; birth weight, 3.4 ± 0.2; gestational age, 39.8 ± 0.4 wk] and 6 age-matched control subjects with no lung disease (birth weight, 3.2 ± 0.3 kg; gestational age, 39.1 ± 1.1 wk), all of whom were admitted to the neonatal intensive care unit (Padua, Italy), were studied. A ll infants received simultaneously an intratracheal (carbon-13 di-palmitoyl-phosphatidylcholine) and an i.v. (deuterated palmitic acid) stable isotope tracer. Isotopic enrichment curves of DSPC from sequential tracheal aspirates were analyzed by mass spectrometry. DSPC kinetic data were expressed as mean ± SEM and compared by the Mann-Whitney test. DSPC net synthesis from plasma palmitate was nearly identical in infants with CDH and control subjects (8.6 ± 2.2 and 8.1 ± 1.5 mg·kg−1·d−1; P = 0.7). DSPC apparent pool size was 36.7 ± 7.5 and 58.5 ± 9.1 mg/kg (P = 0.07) and half-life was 26.7 ± 4.5 and 50.3 ± 9.7 h (P = 0.03) in infants with CDH and control subjects, respectively. Both DSPC turnover and percentage of catabolism/recycling significantly correlated with duration of mechanical ventilation. In conclusion, the measurements of net DSPC synthesis and catabolism/recycling were reported for the first time in humans. Mean net DSPC synthesis was ∼8 mg·kg−1·d−1. No significant differences were found between control subjects and infants with CDH. DSPC turnover was faster in infants with CDH, presumably reflecting an increased DSPC catabolism/recycling. Whether this may ultimately lead to a secondary surfactant deficiency in infants with CDH is still to be ascertained.

Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations

PurposeThe recently established International Consortium on Anorectal Malformations aims to identify genetic and environmental risk factors in the etiology of syndromic and nonsyndromic anorectal malformations (ARM) by promoting collaboration through data sharing and combined research activities.MethodsThe consortium attempts to recruit at least 1,000 ARM cases. DNA samples are collected from case–parent triads to identify genetic factors involved in ARM. Several genetic techniques will be applied, including SNP arrays, gene and whole exome sequencing, and a genome-wide association study. Questionnaires inquiring about circumstances before and during pregnancy will be used to obtain environmental risk factor data.ResultsCurrently, 701 ARM cases have been recruited throughout Europe. Clinical data are available from all cases, and DNA samples and questionnaire data mainly from the Dutch and German cases. Preliminary analyses on environmental risk factors in the Dutch and German cohort found associations between ARM and family history of ARM, fever during first trimester of pregnancy and maternal job exposure to cleaning agents and solvents.ConclusionFirst results show that both genetic and environmental factors may contribute to the multifactorial etiology of ARM. The International Consortium on Anorectal Malformations will provide possibilities to study and detect important genes and environmental risk factors for ARM, ultimately resulting in better genetic counseling, improved therapies, and primary prevention.

Abdominal wall defects: prenatal diagnosis, newborn management, and long-term outcomes.

Omphalocele and gastroschisis represent the most frequent congenital abdominal wall defects a pediatric surgeon is called to treat. There has been an increased reported incidence in the past 10 years mainly due to the diffuse use of prenatal ultrasound. The early detection of these malformations, and related associated anomalies, allows a multidisciplinary counseling and planning of delivery in a center equipped with high-risk pregnancy assistance, pediatric surgery, and neonatology. At present times, closure of defects, even in multiple stages, is always possible as well as management of most of cardiac-, urinary-, and gastrointestinal-associated malformations. The progress, herein discussed, in the care of newborns with abdominal wall defects assures most of them survive and reach adulthood. Some aspects of transition of medical care will also be considered, including fertility and cosmesis.

Morphology of the interstitial cells of Cajal of the human ileum from foetal to neonatal life

The so‐called interstitial cells of Cajal myenteric plexus (ICC‐MP), interstitial cells of Cajal intramuscular (ICC‐IM) and interstitial cells of Cajal deep muscular plexus (ICC‐DMP) are the three types of ICC endowed within the intestinal muscle coat where they play different roles in gut motility. Studies on ICC ontogenesis showed ICC‐MP in the human ileum by 7–9 weeks while information on ICC‐IM and ICC‐DMP in foetuses and new‐borns are not exhaustive. Functional recordings in the fasting state of prematurely born babies aged 28–37 weeks showed immature ileal motility. To gain more information on the time of appearance of the three ICC types in the human ileum and on the steps of the acquisition of mature features, we studied by c‐kit immuno‐histochemistry foetuses aged 17–27 weeks and newborns aged 36–41 weeks. In parallel, the maturative steps of enteric plexuses and muscle layers were immunohistochemically examined by using anti‐neuron specific enolase (NSE), anti‐S‐100 and anti‐α smooth muscle actin (αSMA) antibodies. The appearance and differentiation of all the ICC types were seen to occur in concomitance with those of the related nerve plexuses and muscle layers. ICC‐MP appeared first, ICC‐IM and ICC‐DMP later and their differentiation was incomplete at birth. In conclusion, the ICC‐MP, the intestinal pacemaker cells, in spite of absence of food intake, are already present during the foetal life and the ICC‐IM appear by pre‐term life, thus ensuring neurotransmission. The ICC‐DMP and their related nerve plexus and smooth muscle cells, i.e. the intestinal stretch receptor, begin to differentiate at birth. These findings might help in predicting neonatal ileal motor behaviour and in interpreting the role of ICC abnormalities in the pathophysiology of intestinal motile disorders of neonates and young children.

First results of a European multi-center registry of patients with anorectal malformations

BACKGROUND The European consortium on anorectal malformations (ARM-NET) was established to improve the health care of patients and to identify genetic and environmental risk factors. The aim of the present study was to present the first results on clinical data of a large European cohort of ARM patients based on our registry. METHODS In 2010, the registry was established including patient characteristics and data on diagnosis, surgical therapy, and outcome regarding complications. Patients born between 2007 and 2012 were retrospectively added. A descriptive analysis of this cohort was performed. RESULTS Two hundred and three ARM patients were included. Syndromes or chromosomal abnormalities were present in 9%. Perineal fistulas were seen most in boys (42%) and girls (29%). Rare forms of ARM were found in 4% of the male and in 14% of the female patients. Forty-five percent of the patients had additional urogenital abnormalities. However, 32% of the patients were never screened for bladder abnormalities. Eight percent were never screened for renal malformations. In the majority of patients (79%), a PSARP was performed for the definitive reconstruction. CONCLUSION This collaborative effort provides a representative basis to estimate incidence of ARM types, to discuss differences and similarities in treatment, and health consequences throughout Europe.

Is there a place for medical treatment in children with gallstones

BACKGROUND Medical treatment of gallstones with ursodeoxycholic acid (UDCA) or chenodeoxycholic acid (CDCA) has not been evaluated in children. AIM The purpose of this study was to assess the effectiveness of UDCA in the treatment of gallstones in children. METHODS UDCA was used to treat 15 patients, (7 boys and 8 girls; mean age, 7.8 years; range, 3 months to 15 years) for 1 year. All had radiolucent stones with a maximum diameter of 10 mm and a normally contractile gallbladder. RESULTS The stones disappeared completely in two children but returned later. All symptomatic patients became symptom free. CONCLUSION UDCA is ineffective in the treatment of gallstones in children except in terms of relieving symptoms while on treatment.

Congenital tracheobiliary fistula

Congenital respiratory tract‐biliary fistula, including tracheo‐ and broncho‐biliary fistulae, are rare developmental anomalies. To date, only 18 cases have been reported. We present two additional cases that came to our attention after a long and difficult attempt to make a diagnosis. After surgical excision of the tract both children have remained symptom‐free for 6 and 4 years, respectively. Bronchoscopy allows an early diagnosis, but patients also have to be investigated for associated biliary tree malformations. Pediatr Pulmonol. 2000; 30:149–152.

Outcome Comparison Among Laparoscopic Duhamel, Laparotomic Duhamel, and Transanal Endorectal Pull-Through: A Single-Center, 18-Year Experience

PURPOSE Transanal endorectal pull-through has changed the treatment of Hirschsprungs disease (HD) in the past decade. The aim of the study was to compare outcomes, obtained in a single center, with laparotomic Duhamel (LTD), laparoscopic Duhamel (LSD), and laparoscopic-assisted transanal endorectal pull-through (LTEPT). MATERIALS AND METHODS We retrospectively reviewed the charts of all patients operated on for HD since 1992. Preoperative, operative, and postoperative data were collected to compare short- and long-term outcomes among the three groups. RESULTS From 1992 to 2010, 70 children were treated for HD. Patients were divided into three groups based on the surgical technique used: 14 LTEPT, 32 LSD, and 24 LTD. Mean ages at surgery were 4.67, 14.61, and 13.28 months, respectively. Patients in the LTEPT group had significant shorter operating times (195 versus 257 versus 291 minutes, P=.03), earlier start of feeding (1.2 versus 3.1 versus 4.7 days, P<.01), and shorter length of hospital stay (4.4 versus 6.8 versus 9.7 days, P<.011). Overall complications rate was lower in the LTEPT (14%) than in the LSD (31.2%) and LTD (29.7%) groups. Postoperative enterocolitis incidence was 3%-4% in the Duhamel groups and none in LTEPT. Long-term outcome showed less constipation and better continence for age in the LTEPT group at the 1-year follow-up (P=.033). CONCLUSIONS This study further supports technical advantages, lighter impact of the surgical procedure on infants, lower incidence of complications, and better long-term outcome of the transanal pull-through compared to the Duhamel approaches.

Reduction of interstitial cells of Cajal in esophageal atresia

Objectives: Postrepair esophageal dysmotility and gastroesophageal reflux are well-known consequences in patients with congenital esophageal atresia (EA) with or without distal tracheoesophageal fistula (TEF). The interstitial cells of Cajal (ICC), considered the intestinal pacemaker, are altered in congenital diseases with abnormal peristalsis, but no data are available for EA. Therefore, presence and maturation of ICC was verified in EA-TEF newborns. Patients and Methods: Fifteen full-term neonates underwent repair of EA-TEF. Control specimens were from 10 newborns who died of nonesophageal diseases. Specimens from upper pouch, fistula, proximal, and distal esophagus were processed for hematoxylin and eosin, c-kit immunohistochemistry for ICC identification, and transmission electron microscopy. Frequency of c-kit–positive cells was evaluated in 20 fields per slide using a visual score (absent, very low, low, medium, high, very high). Morphocytometry and statistical analysis were also performed. Results: In the proximal normal esophagus, ICC frequency was very high (3 cases), high (5), and medium (2); distally, it was high (4) and medium (6). In EA-TEF upper pouch, it was high (2) and medium (13); in the fistula, it was medium (5), low (6), very low (3), and absent (1). Morphocytometry confirmed these results. Comparison between pouch and fistula versus proximal and lower esophagus, respectively, showed statistically significant differences. Transmission electron microscopy demonstrated ICC immaturity in EA-TEF. Conclusions: The significant lower ICC density in EA-TEF is in favor for the pathogenesis of esophageal dysmotility frequently observed in such patients.