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Objective:: To serially assess fetal cardiac dimensions in congenital diaphragmatic hernia (CDH) and their relation to disease severity. Study design:: Retrospective analysis of CDH cases and matched controls. Mitral (MVd) and tricuspid (TVd) valve diameters, left (LV) and right (RV) ventricular length and area, Z-scores, were serially assessed at 24–26, 30–32, and 35–37 weeks gestational age (GA). Results:: In CDH cases MVd, MVd Z-score, and LV area were significantly reduced at 24–26 and 35–37 weeks GA. TVd, TVd Z-score, and RV area were significantly reduced at 24–26 weeks. RV area Z-score increased with advancing GA. MVd and MVd Z-score were significantly lower at 24–26 weeks GA in CDH who had a combined outcome of death and/or ECMO. Conclusions:: LV hypoplasia in CDH is characterized by reduced MVd from 24 weeks GA. MVd, and the ratio of mitral and tricuspid valve diameters at later gestations, may be potential predictors of disease severity.

Introduction: The omic approach can help identify a signature that can be potentially used as biomarkers in babies with congenital diaphragmatic hernia (CDH). Objectives: To find a specific microRNA (miR) and metabolic fingerprint of the tracheal aspirates (TA) of CDH patients. We conducted a genetic analysis from blood samples. Methods: TA samples collected in the first 48 h of life in patients with CDH, compared with age-matched controls. Metabolomics done by a mass spectroscopy-based assay. Genomics done using chromosomal microarray analysis. Results: CDH (n= 17) and 16 control neonates enrolled. miR-16, miR-17, miR-18, miR-19b, and miR-20a had an increased expression, while miR-19a had a twofold decreased expression in CDH patients, compared with age-matched control patients. Specific metabolites separated neonates with CDH from controls. A genetic mutation found in a small subset of patients. Conclusions: Specific patterns of metabolites and miR expression can be discerned in TA samples in infants with CDH.

Bladder exstrophy is a congenital and rare malformation of the lower abdominal wall with exposure of the bladder mucosa to the external environment, and it is related to pelvis abnormalities. Eighteen patients with bladder exstrophy were treated with bilateral oblique pelvic osteotomy in conjunction with urologic reconstruction after they were stabilized by cast. No failure of midline closure was observed (wound dehiscence or recurrence of bladder exstrophy). Follow-up showed no leg length discrepancy or problems in walking. Bilateral oblique pelvic osteotomy is a safe procedure to treat bladder exstrophy, and it results in good orthopedic and urological function.

Total/near total intestinal aganglionosis (TIA/NTIA) is the most uncommon and life-threatening form of Hirschsprung disease (HD). The management of TIA/NTIA is challenging and the role of autologous intestinal reconstructive (AIR) surgery is controversial. The objective is to evaluate the effectiveness of AIR in patients with TIA/NTIA. Records from children affected by TIA and enrolled in the multicenter international Pediatric Intestinal Rehabilitation and Transplantation Registry were retrospectively reviewed. Fourteen patients with TIA were identified. TIA diagnosis was confirmed histologically at the median age of 14 days of life. All received a proximal decompressive jejunostomy. Two patients died, 4 patients had satisfactory stoma output with enteral tolerance without additional procedures, 8 underwent 10 AIR procedures (4 Ziegler myotomy-myectomy, 3 transposition of aganglionic ileum with or without myotomy, 2 simple tapering, 1 longitudinal lengthening and tailoring procedure with associated myotomy). AIR significantly reduced median stoma output, from 197 to 31 mL · kg-1· day-1(P= 0.0001). The reduction was seen in all patients. In addition, AIR improved enteral tolerance in the long term in 5 of 8 patients (63%), and temporarily in 1, leading to a reduction of parenteral nutrition requirement from 100% to 70% (P= 0.0231). AIR surgery in carefully selected patients may be useful and effective way to enhance residual bowel absorptive function and to reduce parenteral nutrition requirements. AIR and intestinal transplantation are complementary surgical tools in the complex treatment algorithm of TIA/NTIA.

The patients with ultra-short bowel syndrome (U-SBS) have been considered potential candidates for a preemptiverehabilitative 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).

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). 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. 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. 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.

Wolf‐Hirschhorn syndrome (WHS) is a well‐known genetic condition characterized by typical facial anomalies, midline defects, skeletal anomalies, prenatal and postnatal growth retardation, hypotonia, mental retardation, and seizures. Affected patients with a microdeletion on distal 4p present a milder phenotype that lacks congenital malformations. WHS is rarely associated with congenital diaphragmatic hernia (CDH), and only 8 cases are reported in the literature. In almost all cases of CDH and WHS a large deletion of the short arm of chromosome 4 is present.A microdeletion of 2.6 Mb on distal 4p associated with CDH and multiple congenital malformations (i.e., cleft palate) is reported for the first time.Such a microdeletion should prompt a molecular study for WHS when in a fetus/newborn with CDH the association with cleft lip/palate and typical facial appearance (flat facial profile, hypertelorism) is found. Birth Defects Research (Part A), 2006. © 2006 Wiley‐Liss, Inc.

Purpose:The arteriovenous fistula (AVF) of Brescia-Cimino fulfills nearly all of the criteria for an optimal access for chronic hemodialysis, such as long-term patency rate, low complication rate, and respect of vascular morphologic features. Alternative dialytic methods (i.e., external shunts and vascular grafts) cannot easily be applied to pediatric patients, and in addition, these methods are responsible for higher complication rates. Methods:From January 1985 to December 1994, 112 Brescia-Cimino AVFs were performed in 90 children (average age, 5.5 years; range, 5 months to 18 years). The average weight of the children was 28 kg (range, 6.5 to 54 kg); 16% of AVFs were performed in children who were less than 5 years old, and 18% in children who were less than 15 kg in body weight. Results:Chronic renal failure was caused by a nephropathy in 53 cases (14 with a nephrotic syndrome), and 37 cases had a uropathy. In all cases a phlebography was performed before the microsurgical treatment. Since 1994 an inflatable tourniquet has been placed on the selected upper arm because of an optimal exsanguination of the operating field. The primary patency rate was obtained in all but six of the children; 35% of AVFs had either immediate or late complications. Thrombosis was the most frequent complication that we observed. In comparison with 79% of late thrombosis, 60% of early thrombosis was cured. Of the 80 AVFs, 63.5% with a 4-year follow-up are still patent. Conclusion:We emphasize the following two conclusions: first, microsurgery is essential to create AVFs with good results in children as well as in adult patients; and second, the results improved after the adoption of an upper-arm exsanguination and ischemia (pressure range, 400 mm Hg to 600 mm Hg) that avoided spasm of the vessels with a final 35% reduction in surgical time. (J Vasc Surg 1998;27:640-4.)

From January 1976 to October 1986, 107 cases of esophageal atresia (EA) were admitted to the Neonatal Surgical Unit of the Bambino Gesú Hospital of Rome; 86% of the children had a type III EA. Associated anomalies were present in 47%; they were multiple in 18%. Cardiological malformations were the most frequent followed by digestive, skeletal, urological, and chromosomal aberrations. Surgical treatment was attempted in all children except 3, who died before surgical correction, in an effort to perform an end-to-end anastomosis in a single layer through a transpleural approach. According to the results, children were divided into two groups of 50 patients each: group 1 (1976–1981); and group 2 (1981–1986). Anastomosis was possible in 69% of children (68.7% in group 1, 69.3% in group 2). After 1983, gastrostomy fell into gradual disrepute and a transanastomotic tube was used. Immediate complications were seen in 36.6% of cases; in no case did recurrence of the tracheoesophageal fistula occur. The overall mortality decreased from 50% (group 1) to 30% (group 2). In the two periods considered, the mortality according to Waterston's risk classes was 28.5% ? 5,8% (class A), 42.1% ? 11.7% (class B), 82.3% ? 68.7% (class C). Of a total of 41 deaths, 47% were due to severe associated malformations: bronchopneumopathy or prematurity seemed to have less importance in establishing the prognosis.

The varicocele is a common cause of adult male infertility, but surgical treatment in adolescence still remains controversial. Many data suggest that early recognition and correction of a varicocele may prevent testicular damage and sterility. The argument that infertility does not necessarily result in each case is probably not relevant due to uncertainty involved in an individual case. Changes similar to those observed in infertile adults occur in the affected testicle in adolescents with varicocele. High ligation of the spermatic veins is associated with a 20% recurrence rate. Twenty-five children (mean age 12 years 5 months) underwent microsurgical treatment for a left-sided varicocele. All had antegrade phlebography under general anesthesia to distinguish the type of varicocele and determine the proper surgical approach. Twenty (80%) patients had type 1, 2 (8%) type 2, and 3 (12%) had a third type. All were treated using Belgrano's technique, which seems to allow anatomic-physiologic venous return from the testis. The mean postoperative hospitalization was 4 days and the mean follow-up time 17 months. Begrano's technique is a complete, easy and esthetically effective procedure for treating varicocele in childhood. It is also advisable to employ phlebography in patients treated by the most common surgical approach to avoid recurrences. These findings encourage early surgical treatment, which in our experience was always effective.

The long-term follow-up of patients operated on for congenital diaphragmatic hernia (CDH) at birth has been extensively evaluated, both clinically and with respect to respiratory function. However, little is known about the sports practice and stress performance of these subjects. Fifteen of 107 patients operated on for CDH underwent exercise stress testing with a stepwise increase in workload. A questionnaire was provided, which requested information on sports practice and lifestyle. Maximal oxygen consumption (V̇o2max) was measured along with dynamic lung volumes. Clinical examination included a whole-body assessment (height, weight, skinfolds) and vital parameters (heart rate and blood pressure). Fifteen healthy children who practiced regular physical activity (2 to 4 hours/week) served as controls. All the CDH patients experienced a good lifestyle, but only 8 of them were participating in sports. Exercise duration andV̇o2max were significantly lower for the CDH patients, and were lowest for the sedentary patients. Therefore, the reducedV̇o2max of these otherwise healthy children most likely represents a lower degree of physical fitness rather than decreased respiratory function. Fitness is an expression of well-being; thus, there is evidence that these patients could safely participate in competitive motor activities.

AbstractHuman milk and breastfeeding represent the nutritional normative standards for term and preterm newborns. With the term “surgical infants” we refer to all newborns who undergo surgery during the first days of life and who are assisted in the neonatal intensive care unit during the postoperative period and then in the neonatal surgery unit. There are many obstacles to breastfeeding these newborns. The “barriers” include the unstable clinical conditions before and after surgery, the period of separation between the mother and child, and often the lack of attention to breastfeeding. Few studies have assessed if newborns with surgical diseases are breastfeed and if human milk is beneficial for their outcome. We believe that the best option is to offer them their own mother's milk through the promotion and support of breastfeeding. A specific program focused on the needs of these vulnerable children should be created. Furthermore the surgical and pediatric staff of the neonatal surgery unit should be informed and trained to increase such a program's feasibility.

A case of a largely achromic melanoblastoma of the thumb (right hand) arising from the subungual layer is described.This tumour is worth being particularly considered, because of its unfrequent occurrence and clinical peculiarities; furthermore it may be diagnosed (at least at first) as a chronic phlogistic process.

Limited data are available on the most appropriate dosing, efficacy, and safety of micafungin in neonates with invasive candidiasis (IC). This study evaluated plasma levels, efficacy, and safety of micafungin at a dose of 8 mg/kg daily for a mean of 13.3 days (±5.2 days) in 35 neonates and young infants with IC.

Despite technical refinements in surgery and advances in postoperative intensive care, abdominal wall closure in giant omphalocele remains a difficult endeavor. In this respect, bipedicled skin flaps obtained with longitudinal incisions along the margins of the rectus abdominis muscle may represent a good alternative solution to achieve a complete, tension-free midline closure. Incisional areas can subsequently be easily covered with split-thickness thigh grafts. Two neonatal cases were treated with this technique with good results. This has enabled avoidance of palliative coverage as well as complex musculo-cutaneous reconstructions at a later age.

Oesophageal atresia (OA) is a congenital defect associated with additional malformations in 30-70% of the cases. In particular, OA is a component of the VACTERL association. Since some major features of the VACTERL association, including conotruncal heart defect, radial aplasia, and anal atresia, have been found in patients with microdeletion 22q11.2 (del(22q11.2)), we have screened for del(22q11.2) by fluorescent in situ hybridisation (FISH) in 15 syndromic patients with OA. Del(22q11.2) was detected in one of them, presenting with OA, tetralogy of Fallot, anal atresia, neonatal hypocalcaemia, and subtle facial anomalies resembling those of velocardiofacial syndrome. The occurrence of del(22q11.2) in our series of patients with OA is low (1/15), but this chromosomal anomaly should be included among causative factors of malformation complexes with OA. In addition, clinical variability of del(22q11.2) syndrome is further corroborated with inclusion of OA in the list of the findings associated with the deletion.

The gliding testis is located below the external ring; it can be manipulated to the upper scrotum but tends to ascend to its original position. Histologic changes can be detected in these gonads by 7 years of age. We evaluated 427 consecutive prepubertal boys referred for cryptorchidism. One hundred and twenty-three had classical undescended testes: 71 ectopic, 55 retractile, and 178 (mean age 6 yrs. 2 mos.) gliding testes. The gliding testes were smaller than controlaterals in 24% of boys. All gliding testes were unilateral, whereas bilaterality was 85% in the retractile group (P<0.0001), 17.5% in the undescended (P<0.001), and 10% in the ectopic group (P<0.01). There was a history of one or more of the following conditions: orchidopexy (3), hormonal treatment (5) late testicular descent (9), spermatic cord torsion (5), testicular pain (10), actual retractile testes (20) or actual gliding testis (58), was present in 93 (52.2%) of the fathers of the gliding group. Forty-seven (81%) paternal gliding testes were hypotrophic. Seventy-five boys with gliding testis underwent initial hormonal therapy with transient benefit, and 57 were operated on. Two anatomical findings are typical of the gliding testis: (i) the absence of the gubernaculum, and (ii), a processus vaginalis partially patent from the upper scrotum to the mid groin area. This latter feature explains the mobility of the gliding testis from the external ring to the upper scrotum. The absence of the gubernaculum may be responsible for a higher incidence of spermatic cord torsion in this population. The gliding testis is a distinct entity, representing the mildest degree of a true undescended testis. As hormonal treatment gives only transient results, orchidopexy should be considered before testicular damage occurs.

Background and Aims: In newborns, life-threatening conditions may cause long lasting parental reactions. The stress experienced by parents due to early separation and hospitalization may alter their response to the infant.Our prospective study aimed to evaluate maternal stress one year after the birth of newborns hospitalized for high risk condition.Methods: Mothers of newborn babies hospitalized at birth because of severe prematurity < 32 weeks GA (PT), major congenital malformations (MCM) or severe congenital hearth disease (CHD) were asked to fill the Parenting Stress Index-Short Form (PSI-SF) one year after delivery. In the same assessment child neuropsychological development was evaluated by Bayley Scale (Bayley-III).We analyzed correlations between the PSI-SF scores and diagnosis, length of hospital stay, neurodevelopmental outcome, genetic syndrome, mother's education and socioeconomic status by t-Test and linear regression analysis (p< 0.05).Results: 121 mothers and 129 children (41 PT, 39 MCM, 49 CHD) were recruited in the study. Mothers obtained a mean PSI-SF total score within normal range. 17% of mothers had at least one subscale in the pathological range (above 85° centile). Level of parenting stress was significantly correlated with length of hospital stay, child motor development and maternal education.Conclusions: One year after delivery the vast majority of mothers showed parenting stress within normal range regardless of the medical risk condition of the newborn. According to our data risk factors for increased parenting stress at one year seem to be lower maternal educational level, abnormal motor development and length of hospitalization.

Background: Birth weight (BW), Gestational age (GA), Apgar score at 5 minutes, prenatal diagnosis (PD), gender (M/F), side of hernia (R/L) and McGoon Index (MGI) (i.e. The ratio between the sum of the diameters of the 2 pulmonary arteries and that of the descending aorta), have been utilized to determine the severity and prognosis of CDH.Aim: To evaluate the relationship between the above mentioned variables recorded on admission and survival in infants with CDH..Methods: 34 consecutive newborns with CDH (BW=2886 g, [range 1500–3620], GA=37.7 weeks [32–42], M/F=22/12, Right/Left CDH=8/26, PD=29; MGI=1.31 [0.9–1.85]), all managed according to a standardized protocol (including intubation at birth, gentle ventilation and delayed surgery), were studied. The relationship between the above mentioned variables and mortality was first evaluated by univariate analysis. BW and MGI were classified as high (HBW and HMGI) and low (LBW and LMGI) according to the best cut-off values identified by ROC curves: i.e. 2755 g for BW (sensitivity 70%, specificity 74%), and 1.25 for MGI (sensitivity 73%, specificity 78%). A predictive model of mortality was then developed using a logistic regression analysis.Results: Only BW and MGI were significantly (p<0.05) and indipendently associated with mortality at the univariate and multivariate analysis: ORs=7.2 (95%CI=1.1–47.8) for BW and 9.1 (95%CI=1.4–60.1) for MGI. According to the 4 possible combinations of the two dichotomized variables the mortality rates were: HBW+HMGI = 6% ; HBW+LMGI = 31% ; LBW+HMGI = 36% ; LBW+LMGI =80%.Conclusions: Since BW and MGI on admission are not influenced by subsequent modalities of care, they can be considered early and reliable severity scores in CDH and utilized for evaluating new therapeutic strategies and/or for comparing performances among different centres.(Supported by Grant N 02P000631 of the Italian Ministry of Health).

Background: CDH is still characterized by high morbidity and mortality, mostly due to lung hypoplasia. Recently, gentle ventilation and delayed surgery have been suggested to improve mortality and long-term pulmonary sequelae. The assessment of lung volumes, particularly functional residual capacity (FRC), is crucial for understanding lung development during the first year of life. The sulphur hexafluoride (SF6) wash-in / wash-out technique together with an ultrasonic flow meter, can measure both FRC and lung clearance index (LCI), a very sensitive and stable index of ventilation homogeneity.Aim: To evaluate changes in lung function during the first two years of life in infants with CDH requiring mechanical ventilation and surgically corrected in the neonatal period.Methods: Ten CDH infants (means±SD: BW=3082±570 g and GA=39.1±1.7 wks, M/F=8/2, Left/Right CDH 8/2) surgically corrected in the neonatal period were studied twice during the first two years of life, with at least six months interval between measurements. Tidal Volume (Vt), Respiratory Rate (RR) and time to peak expiratory flow/expiratory time ratio (tPTEF/Te, an index of lower airways patency) were measured with an ultrasonic flow meter; Compliance (Crs) and Resistance (Rrs) of the respiratory system were studied with the single occlusion technique; FRC and LCI were assessed with the multiple breath SF6 wash-in/wash-out technique. The differences between the first and second measurement were considered statistically significant for p <0.05 by the Student's t-test for paired values.Results: All 10 infants were studied at 5.0±2.7 (T1) and 12.8±4.2 (T2) months of age. At T1: Vt (7.9±2.1 ml/kg), RR (47.8±14.0 b/m'), Crs (2.1±0.4 ml/cmH2O/kg) were within normal limits; tPTEF/Te (0.18±0.05) and FRC (19.2±4.2 ml/kg) were slightly lower, while Rrs (52.2 ± 19.2 cmH2O/l/s) and LCI (10.8±2.5; normal values <7.1) were higher than normal. At T2: Vt (9.7±1.8 ml/kg) and RR (32.5±6.4 b/m') improved significantly (p<0.05 and p<0.01), while Crs (2.2±0.6 ml/cmH2O/kg), Rrs (53.0±25.8 cmH2O/l/s), tPTEF/Te (0.17±0.05), FRC (21.6±3.4 ml/kg) and LCI (11.2±2.5) did not change appreciably when compared with T1.Conclusions: Lung function in infants with severe CDH is characterized by a persistent impairment of lung volumes and ventilation inhomogeneity, despite an improvement in Vt and RR and normal values of Crs, during the first two years of life. These results can explain in part the higher respiratory morbidity in these patients.

Cloacal malformations are rare and can present in variable aspects. The importance of ultrasound in detecting these anomalies is well known. Sonographic features vary in accordance with the type of malformation and the gestational age. A positive diagnosis is not possible because of the lack of specific ultrasound findings, which can show similar aspects to other abnormalities. We present 3 cases of prenatal diagnosis of this malformation, emphasizing that in the presence of a plurilobed cystic pelvic fetal mass with associated malformations, such as cardiac, renal, and vertebral anomalies, a persistent cloaca can reasonably be suspected.