Intraoperative ultrasound-assisted endoscopic treatment of primary intermediate and high-grade vesicoureteral reflux in children in a long-term follow-up.

BACKGROUND: Endoscopic treatment of vesicoureteral reflux (VUR) is an important minimally invasive surgical approach in patients undergoing surgical treatment of VUR. In our past experience, we observed that a bulking agent mound sagittal diameter of 10 mm is the main predictor of effectiveness of the procedure. Moreover we noticed that the use of intraoperative ultrasound, allows the surgeon to better identify the site, volume and shape of the bulking agent injected, finally reducing operative time. OBJECTIVE: We aimed to evaluate if the intraoperative ultrasound assistance could definitively improve effectiveness of the endoscopic procedure. METHODS: We retrospectively compared two series treated with endoscopic procedures for intermediate and high grade primary VUR, respectively without (series A) and with (series B) intraoperative ultrasound (IO-US). In all patients VCUG was performed to assess VUR grade and to verify resolution or VUR downgrading during the follow-up. RESULTS: A total of 177 ureteric units were treated. Endoscopic procedures globally were effective in 68/96 ureters (70.8 %) in series A and in 68/81 ureters (83.9 %) in series B. No significant differences in effectiveness were observed comparing the series with regard to VUR grades, but a significant difference is shown (p < 0.05) when grouping grades III-V VUR. No significance in differences of volume injected were detected, but operative time was significantly lower in series B (27.5 min vs 19.6 min, p < 0.05). Mean sagittal mound diameter measured during cystoscopy in series B was 10.45 mm (range 8.5-14.2 mm). DISCUSSION: The intraoperative ultrasound assistance during endoscopic treatment of VUR could represent a valid tool for surgeons to better identify location, volume and shape of the bulking agent. Furthermore, the use of an objective parameter of evaluation of the implant can overcome the subjective intraoperative evaluation of the implant itself, improving results for experienced surgeons and reducing the learning-curve for inexperienced ones. CONCLUSIONS: Results of endoscopic injection of bulking-agent can be improved with intraoperative ultrasound, allowing at the same time a significant reduction of operative time.

Report and follow-up on two new patients with congenital mesoblastic nephroma.

BACKGROUND: Tumors are rare in neonatal age. Congenital mesoblastic nephroma (CMN) is a usually benign renal tumor observed at birth, or in the first months of life. It may also be identified prenatally and associated with polyhydramnios leading to preterm delivery. Effective treatment is surgical in most cases, consisting in total nephrectomy. In literature, very few studies report on the neonatal management of such a rare disease, and even less are those describing its uncommon complications. CASES PRESENTATION: We report on two single-center newborns affected with CMN. The first patient is a preterm female baby, born at 30+ 1 weeks of gestation (WG) due to premature labor, with prenatal (25 WG) identification of an intra-abdominal fetal mass associated with polyhydramnios. Once obtained the clinical stability, weight gain, instrumental (computed tomography, CT, showing a 4.8 × 3.3 cm left renal neoformation) and histological/molecular characterization of the lesion (renal needle biopsy picture of classic CMN with ETV6-NTRK3 translocation), a left nephrectomy was performed at 5 weeks of chronological age. The following clinical course was complicated by intestinal obstruction due to bowel adherences formation, then by an enterocutaneous fistula, requiring multiple surgical approaches including transitory ileo- and colostomy, before the conclusive anastomoses intervention. The second patient is a 17-day-old male term baby, coming to our observation due to postnatal evidence of palpable left abdominal mass (soon defined through CT, showing a 7.5 × 6.5 cm neoformation in the left renal lodge), feeding difficulties and poor weight gain. An intravenous diuretic treatment was needed due to the developed hypertension and hypercalcemia, which regressed after the nephrectomy (histological diagnosis of cellular CMN with ETV6-NTRK3 fusion) performed at day 26. In neither case was chemotherapy added. Both patients have been included in multidisciplinary follow-up, they presently show regular growth and neuromotor development, normal renal function and no local/systemic recurrences or other gastrointestinal/urinary disorders. CONCLUSIONS: The finding of a fetal abdominal mass should prompt suspicion of CMN, especially if it is associated with polyhydramnios; it should also alert obstetricians and neonatologists to the risk of preterm delivery. Although being a usually benign condition, CMN may be associated with neonatal systemic-metabolic or postoperative complications. High-level surgical expertise, careful neonatological intensive care and histopathological/cytogenetic-molecular definition are the cornerstones for the optimal management of patients. This should also include an individualized follow-up, oriented to the early detection of any possible recurrences or associated anomalies and to a better quality of life of children and their families.

Penile Length Assessment of Children Treated for Primary Buried Penis: Can Satisfying Penile Growth Always Be Achieved?

Primary buried (BP) penis is describes as a small penis caused by a penile ligaments anomaly; it is unclear if a primary BP could reach a normal length. We selected 49 patients treated at our institution between 2015 and 2020 in order to post-operatively evaluate the SPL after one year. SPL was evaluated according to the PH Tanner staging system for pre-pubertal patients according to age-normalized values. A micropenis was detected if the SPL was below 2.5 SD. A normal SPL was found in thirty-two patients, eighteen were in PH Stage 1, four were in PH Stage 2, six were in PH Stage 3, and four were in PH Stage 5. Seventeen patients showed a reduced SPL; in seven of these (four in PH Stage 4 and three in PH Stage 5), their SPL was <2.5 ST. The difference in micropenis prevalence between the pre-pubertal and post-pubertal patients was significant (p = 0.038). A primary BP grows normally during the pre-pubertal period, where patients frequently showed a normal SPL, but it seems to be unable to reach a normal length in the higher PH stages, where the SPL is used to detect a micropenis. We suggest that a primary BP should be considered not as a simple defect of the penile ligaments and surrounding tissues, but as an incomplete manifestation of a micropenis due to a growth slowdown of the organ in late puberty.

New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception.

BACKGROUND: Duplications of the long arm of chromosome 3 are rare, and associated to a well-defined contiguous gene syndrome known as partial trisomy 3q syndrome. It has been first described in 1966 by Falek et al., and since then around 100 patients have been reported. Clinical manifestations include characteristic facial dysmorphic features, microcephaly, hirsutism, congenital heart disease, genitourinary anomalies, hand and feet abnormalities, growth disturbances and intellectual disability. Most of cases are due to unbalanced translocations, inherited from a parent carrying a balanced aberration (reciprocal translocation or inversion), and rarely the genomic anomaly arises de novo. Very few studies report on the prenatal identification of such rearrangements. CASE PRESENTATION: Hereby, we report on a newborn with a rare pure duplication of the long arm of chromosome 3. Noninvasive prenatal test (cell free fetal DNA analysis on maternal blood), performed for advanced parental age and use of assisted reproductive technique, evidenced a partial 3q trisomy. Then, invasive cytogenetic (standard and molecular) investigations, carried out through amniocentesis, confirmed and defined a 3q27.1-q29 duplication spanning 10.9 Mb, and including about 80 genes. Our patient showed clinical findings (typical facial dysmorphic features, esotropia, short neck, atrial septal defect, hepatomegaly, mild motor delay) compatible with partial trisomy 3q syndrome diagnosis, in addition to pre- and postnatal overgrowth. CONCLUSIONS: Advanced parental age increases the probability of chromosomal and/or genomic anomalies, while ART that of epigenomic defects. Both conditions, thus, deserve more careful prenatal monitoring and screening/diagnostic investigations. Among the latter, cell free fetal DNA testing can detect large segmental aneuploidies, along with chromosomal abnormalities. It identified in our patient a wide 3q rearrangement, then confirmed and defined through invasive molecular cytogenetic analysis. Neonatologists and pediatricians must be aware of the potential risks associated to duplication syndromes. Therefore, they should offer to affected subjects an adequate management and early and careful follow-up. These may be able to guarantee to patients satisfactory growth and development profiles, prevent and/or limit neurodevelopmental disorders, and timely recognition of complications.

Clinical and genetic approach in the characterization of newborns with anorectal malformation.

OBJECTIVE: This study aimed to investigate clinical, surgical, and genetic data of neonates with anorectal malformation (ARM). STUDY DESIGN: A retrospective observational study was conducted on neonates with ARM as an isolated type (group 1), with ≤2 (group 2), and with ≥3 associated malformations (group 3), born between 2009 and 2020. Distribution of ARM, associated abnormalities and genetic testing were analyzed, and risk factors for adverse outcomes were identified. RESULTS: The 45 ARM cases (36% females) were divided as follows: 13 neonates belonging to group 1 (29%), 8 to group 2 (18%), and 24 to group 3 (53%). Cases were equally distributed over 11 years. Krickenbeck anatomy was: without fistula/imperforate anus (18%), perineal fistula (36%), rectourethral fistula (4%), rectovesical fistula (2%), vestibular fistula (4%), cloaca (4%), and rare ARMs (31%). Groups showed differences in anthropometric data, Krickenbeck anatomy, and intensive care burden. Additional major congenital abnormalities were prevalent specific of VATER/VACTERL spectrum (vertebral/anorectal/cardiac/tracheoesophageal/renal/limb defects), but also Hirschsprung disease was found in 3/20 biopsies (15%). The most frequent minor abnormality was a single umbilical artery. In group 3, we identified four de novo microdeletions at 8p23.2, 8q13.3, Xp22.31-p22.2, Xq28, four de novo microduplications at 1p36.32, 6p24.1-p23, 13q14.11, 15q11.2, one microdeletion at 9q33.1 inherited from the affected mother, one microdeletion at 7q35 inherited from the unaffected father, one structurally uncharacterized rearrangement involving 9p23-q34.3. Thus, we attributed the Xq28 deletion with inactivated FAM58A gene in one girl to the X-linked dominant STAR syndrome (toe syndactyly-telecanthus-anogenital/renal malformations). CONCLUSIONS: Despite the great physical and social burden on ARM patients and their parents, in the majority of cases, the etiology is largely unknown and attributed to be multifactorial. In females, STAR syndrome should be part of the differential diagnosis. Associated malformations of other organ systems interact in outcome parameters.

Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome.

BACKGROUND: Cat eye syndrome (CES) is a rare chromosomal disease, with estimated incidence of about 1 in 100,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is present in 40% of patients, and other congenital defects may also be observed. The typical associated cytogenetic anomaly relies on an extra chromosome, derived from an inverted duplication of short arm and proximal long arm of chromosome 22, resulting in partial trisomy or tetrasomy of such regions (inv dup 22pter-22q11.2). CASE PRESENTATION: We report on a full-term newborn, referred to us soon after birth. Physical examination showed facial dysmorphisms, including hypertelorism, down slanted palpebral fissures, and dysplastic ears with tragus hypoplasia and pre-auricular pit. Ophthalmologic evaluation and heart ultrasound identified left chorioretinal and iris coloboma and ostium secundum type atrial septal defect, respectively. Based on the suspicion of cat eye syndrome, a standard karyotype analysis was performed, and detected an extra small marker chromosome confirming the CES diagnosis. The chromosomal abnormality was then defined by array comparative genome hybridization (a-CGH, performed also in the parents), which identified the size of the rearrangement (3 Mb), and its de novo occurrence. Postnatally, our newborn presented with persistent hypoglycemia and cholestatic jaundice. Endocrine tests revealed congenital hypothyroidism, cortisol and growth hormone (GH) deficiencies, which were treated with replacement therapies (levotiroxine and hydrocortisone). Brain magnetic resonance imaging, later performed, showed aplasia of the anterior pituitary gland, agenesis of the stalk and ectopic neurohypophysis, confirming the congenital hypopituitarism diagnosis. She was discharged at 2 months of age, and included in a multidisciplinary follow-up. She currently is 7 months old and shows a severe global growth failure, and developmental delay. She started GH replacement treatment, and continues oral hydrocortisone, along with ursodeoxycholic acid and levothyroxine, allowing an adequate control of glycemic and thyroid profiles as well as of cholestasis. CONCLUSIONS: CES phenotypic spectrum is wide and highly variable. Our report highlights how among the possible associated endocrine disorders, congenital hypopituitarism may occur, leading to persistent hypoglycemia and cholestasis. These patients should be promptly assessed for complete hormonal evaluations, in addition to major malformations and midline anomalies. Early recognition of such defects is necessary to decrease fatal events, as well as short and long-term related adverse outcomes.

Quality of life improving after propranolol treatment in patients with Infantile Hemangiomas.

Infantile hemangiomas may affect the quality of life (QoL) of patients and their family members, as anxiety and worry may commonly occur in parents, also linked to the social adversion they experience. We underline the beneficial impact of oral propranolol therapy on QoL of patients with infantile hemangiomas (IH) and of their relatives. A specific questionnaire measuring QoL was administered to parents of IH patients at beginning and end of a treatment with oral propranolol. Different aspects were investigated: site of the lesion, age of patients at starting therapy, length of treatment, occurrence of adverse effects and persistence/recurrence of the vascular anomaly. In all cases the questionnaire revealed a significant improvement of QoL, which was independent from all analyzed factors. It showed that oral propranolol administration in these patients combines optimal clinical results with relevant improvement of QoL, especially in cases of early management. The improvement of QoL seems unrelated to site of lesion, timing and duration of therapy, occurrence of drug-related adverse effects and persistence/recurrence of disease.

Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report.

BACKGROUND: Contiguous gene deletion syndrome at Xp22.3 resulting in nullisomy in males or Turner syndrome patients typically encompasses the steroid sulfatase gene (STS) and contiguously located other genes expanding the phenotype. In large deletions, that encompass also the Kallmann syndrome 1 gene (KAL1), occasionally infantile hypertrophic pyloric stenosis (IHPS) and congenital anomalies of the kidney and urinary tract (CAKUT) have been reported. PATIENT PRESENTATION: We report on a male newborn with family history in maternal uncle of renal abnormalities and short stature still without ichthyosiform dermatosis. The baby presented CAKUT with kidney failure and progressive vomiting. Renal bicarbonate loss masked hypochloremic and hypokalemic metabolic alkalosis classically present in IHPS and delayed its diagnosis. Antropyloric ultrasound examination and cystourethrography were diagnostic. After Fredet-Ramstedt extramucosal pyloromyotomy feeding and growing was regular and he was discharged home. Comparative whole-genome hybridization detected a maternal inherited interstitial deletion of 1.56 Mb on Xp22.31(6,552,712_8,115,153) × 0 involving the STS gene, but not the KAL1 gene. CONCLUSIONS: Aberrant cholesterol sulfate storage due to STS deletion as the underlying pathomechanism is not limited to oculocutaneous phenotypes but could also lead to co-occurrence of both IHPS and kidney abnormalities, as we report. Thus, although these two latter pathologies have a high incidence in the neonatal age, their simultaneous association in our patient is resembling not a chance but a real correlation expanding the clinical spectrum associated with Xp22.31 deletions.

Advanced Management Protocol of Transanal Irrigation in Order to Improve the Outcome of Pediatric Patients with Fecal Incontinence.

BACKGROUND: Transanal irrigation (TAI) is employed for children with fecal incontinence, but it can present several problems which require a study of their outcomes among different pathologies and without a tailored work up. The aim of our study was to evaluate the effectiveness of an advanced protocol in order to tailor TAI, prevent complications, and evaluate outcomes. METHODS: We included 70 patients (14 anorectal malformation, 12 Hirschsprung's disease, 24 neurological impairment, 20 functional incontinence) submitted to a comprehensive protocol with Peristeen®: fecal score, volumetric enema, rectal ultrasound, anorectal 3D manometry, and diary for testing and parameter adjustment. RESULTS: Among the patients, 62.9% needed adaptations to the parameters, mainly volume of irrigated water and number of puffs of balloon. These adaptations were positively correlated with pre-treatment manometric and enema data. In each group, the improvement of score was statistically significant in all cases (p 0.000); the main factor influencing the efficacy was the rate of sphincter anomalies. The ARM group had slower improvement than other groups, whereas functional patients had the best response. CONCLUSIONS: Our results showed that TAI should not be standardized for all patients, because each one has different peculiarities; evaluation of patients before TAI with rectal ultrasound, enema, and manometry allowed us to tailor the treatment, highlighting different outcomes among various pathologies, thus improving the efficacy.

Necrotizing enterocolitis in the preterm: newborns medical and nutritional Management in a Single-Center Study.

Necrotizing enterocolitis (NEC) is a typical disorder of preterm newborns, with a high mortality and morbidity rate. The therapeutic and nutritional management of disease depends on several factors. Its prognosis is linked, in addition to the severity of the disease and the need for surgery, to a correct enteral feeding in these patients. This study aims to identify the clinical characteristics of 18 patients with NEC, evaluating the different therapeutic paths undertaken, the type of formula used and the survival rate of this population. Average time of enteral nutrition before the NEC onset was 11,3 ± 11,6 days, with an average fasting period since the onset of 24 ± 18.9 days. 77.8% of patients received surgery and resumed enteral nutrition 17.7 ± 17.9 days after the intervention. The overall survival rate of our cohort was 55.5%. More prospective studies are needed to evaluate the long-term outcomes of survived children with NEC.

Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome.

INTRODUCTION: Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is one of the most frequent pediatric renal cystic diseases, with an incidence of 1:20,000. It is caused by mutations of the PKHD1 gene, on chromosome 6p12. The clinical spectrum is highly variable, ranging from late-onset milder forms to severe perinatal manifestations. The management of newborns with severe pulmonary insufficiency is challenging, and causes of early death are sepsis or respiratory failure. In cases of massive renal enlargement, early bilateral nephrectomy and peritoneal dialysis may reduce infant mortality. However, there is no conclusive data on the role of surgery, and decision-making is driven by patient's clinical condition and expertise of the center. PATIENT PRESENTATION: We hereby describe a preterm female newborn with perinatal, rapid and bilateral, abnormal growth of both kidneys, respiratory failure and initial signs of liver disease. She was subsequently confirmed to be affected by a rare and severe homozygous mutation of the PKHD1 gene, inherited from both her consanguineous parents. Our patient died 78 days after birth, due to a fungal sepsis which worsened her respiratory insufficiency. CONCLUSIONS: This patient report shows some of the clinical and ethical issues of neonatal ARPKD, and the need of multidisciplinary approach and good communication with the family. Target next generation sequencing (NGS) techniques may guide and support clinicians, as well as guarantee to these patients the most appropriate clinical management, avoiding unnecessary and/or disproportionate treatments.

Bedside surgery in the newborn infants: survey of the Italian society of pediatric surgery.

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

A Comprehensive Ultrasonographic Assessment of Pediatric and Adolescent Varicocele Can Improve Surgical Results.

PURPOSE: Undetected refluxing venous systems could cause persistence/recurrence of varicoceles in patients undergoing varicocelectomy. Color Doppler ultrasound (CDUS) is an important tool in the diagnosis and follow-up of varicocele, and could be successfully used to detect a venous reflux in the iliac-deferential district, usually involved in the recurrence/persistence of varicocele. MATERIALS AND METHODS: We compared 2 historical series of patients treated with Palomo laparoscopic varicocelectomy between 1994 and 2018. In group 1, preoperative scrotal CDUS was obtained, while in group 2, additional inguinal CDUS was performed in order to detect a refluxing deferential vein (DV). When a deferential reflux was found, the DV and internal spermatic vein were interrupted during the same Palomo laparoscopic varicocelectomy. RESULTS: A total of 449 patients underwent left laparoscopic varicocelectomy; 146 of them were not studied for deferential reflux with CDUS (group 1), while in the remaining 303, routine CDUS research of deferential reflux was obtained (group 2). The persistence/recurrence rate was significantly higher in group 1 (13.7 vs. 1%, p < 0.000). CONCLUSIONS: The research of a refluxing DV revealed a useful, cost-effective, and simple tool, allowing a better comprehension of the vascular anatomy of varicocele and, thus, a significant reduction of varicocele persistence/recurrence rate.

Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: a case report.

BACKGROUND: Hirschsprung disease, the most important congenital colonic dysmotility in children results from neural crest migration, differentiation, proliferation, or apoptosis defects where the rearranged during transfection (RET)-Protooncogene pathway has a central role. Although palatal and retinal anomalies in the context of chromosomopathies and some mono-/oligogenic syndromes are reported associated with Hirschsprung disease the role of inactivating RET mutations in these cases is not clarified. CASE PRESENTATION: We report on a dysmorphic newborn with cleft palate and palatal synechia, who showed intestinal obstruction after 24 h of life. Transient ileostomy and surgical biopsies were performed to diagnose aganglionosis of the colon and last ileal loop. No chromosomal anomalies or copy number variations were found. We identified a paternal heterozygous germline mutation c.1852 T > C, which results in the substitution of cysteine by arginine in the RET-receptor tyrosine kinase (p.C618R mutation). There was no family history of Hirschsprung disease, but the father underwent surgery for medullary thyroid carcinoma and was affected by retinal dystrophy. CONCLUSIONS: The occurrence of Hirschsprung disease and carcinoma shows how a single mutation may be responsible for adverse effects: gain and loss of function of the same receptor. Furthermore, it would be interesting to study its dual role in face and retina embryology, and to extend targeted investigations of RET hotspots in these developmental abnormalities to facilitate counselling, follow-up, and tumor prevention. Complex surgical procedures and genetic testing as well as socio-economic impact are a challenge for familiar compliance.

The fate of implant after endoscopic injection of dextranomer/hyaluronic acid in vesicoureteral reflux: time to partial reabsorption and stabilization.

BACKGROUND/INTRODUCTION: Vesicoureteral reflux (VUR) potentially leads to renal damage, scarring, and eventually end-stage renal disease. Endoscopic treatment is well tolerated in children, it has reduced costs, and it effectively prevents urinary tract infections (UTIs), while avoiding long term antibiotics use. OBJECTIVE: With the aim to investigate the time needed to reach the stabilization of the dextranomer/hyaluronic acid (Dx/HA) implants and to identify cut-off heights to ensure the success of the procedure, the authors analyzed ultrasonographic (US) intra-operative appearance of the mounds following endoscopic treatment for VUR and repeated the measurements during serial postoperative evaluations. The final clinical goal would be to obtain an alternative parameter that might reduce the need for postoperative voiding cystourethrogram (VCUG). STUDY DESIGN: The authors selected all children treated for moderate-high grade VUR with renal scarring or repeated UTI under antibiotic prophylaxis and followed with regular time points for at least 1 year (time points 1, 3, 6, and 9 months). Endoscopic injection performed with double-HIT/STING technique was combined with US to determine the intra-operative mound height and to calculate reabsorption rate. Mound height was measured as the maximal vertical diameter of the mound visualized at the ureteral orifice. Based on postoperative VCUG findings, patients were divided in group A (success of the endoscopic treatment) and group B (persistence of reflux). RESULTS: Thirty patients aged 1-7 years, counting for 47 ureters, completed the protocol and were included in the analysis. Mounds height had a significant difference between A and B at all time points (P < 0.005). However, height did not differ between 6 and 9 months in both groups. Percentage of reduction in A was significant from 1 to 6 months (P < 0.005) but not onward, while in B, it was never significant. Ultimately, both groups had a comparable trend of reabsorption, with a complete stabilization achieved in 6 months and an overall reduction of approximately 22%. DISCUSSION AND CONCLUSION: Following the endoscopic injection of Dx/HA, US mounds height was found to strongly correlate with VCUG, both intra-operatively and for months following the procedure. Compared with the available literature, the authors first report a fixed reabsorption rate, consistent with the results in animal models and a timeframe to achieve stabilization. The possibility to measure those parameters with US renders this approach useful in the clinical setting, and it justifies the reduced use of VCUG in the follow-up of endoscopic injection for VUR.

Congenital pelvic skeletal anomalies: Clinical and radiographic evaluation of newborns with gastrointestinal malformation.

BACKGROUND: Congenital pelvic skeletal anomalies (CPSA) may appear as isolated defects or in association with other anomalies like congenital malformations of the digestive system (CMDS). Minor CPSA in non-syndromic patients are often overlooked. We aimed to assess the frequency of CPSA in newborns with CMDS to review the diagnostic approaches. STUDY DESIGN: A retrospective review of medical records of 201 newborns who underwent X-rays for different neonatal indications was conducted. In 122 patients CMDS were diagnosed and classified according to the ICD-10 classification; 79 non-CMDS patients acted as controls. Pelvic skeletal segments were examined by X-rays. RESULTS: Patients with CMDS, showed a higher risk of CPSA (Odds ratio 2.89; 95% CI 1.34 6.23) and other associated malformations in comparison to non-CMDS patients. Newborns with malformations of the large intestine have the highest risk of adjacent CPSA (48%), as it is a developmental defect originating from the same somite. In addition to skeletal agenesis/hypoplasia, we reported dysmorphic and bifid vertebras, trident ileum, and elongated neural arches. CONCLUSIONS: The high incidence of CPSA in CMDS suggests performing a routine radiographic pelvic evaluation in cases of CMDS in order to identify complex phenotypes that could originate from the same developmental field.

Correlation between hypertrophy and risk of hypertension in congenital solitary functioning kidney.

PURPOSE: Solitary functioning kidney (SFK) may be associated to hypertrophy, hypertension and chronic kidney disease. We evaluated blood pressure (BP) of children with congenital SFK comparing agenesis to multicystic dysplastic kidney (MCDK) and correlated BP profiles with renal dimensions of affected and contralateral kidney. METHODS: We compared 40 patients with MCDK, grouped for either treatment options (A: conservative vs B: nephrectomy) or involution time (A1: before 4 years-of-age vs A2: persistence-of-MCDK), to 10 unilateral agenesis (C). Patients were evaluated with ultrasound, scintigraphy, office-ambulatory BP monitoring. RESULTS: Compensatory hypertrophy was demonstrated in most of the subjects, without differences between subgroups, with an increase over time (p < 0.001). A1-C showed an overall percentage of hypertrophy significantly higher than A2-B (83%-88% vs 70%-73%, respectively; p = 0.03); moreover, cumulative risk to develop hypertension in A1-C is significantly higher compared to A2-B in office and ambulatory BP monitoring (p = 0.03). Insufficient dipping in systolic and/or diastolic BP was found in 82% children, without differences between subtypes. CONCLUSIONS: Patients with a small/absent dysplastic kidney have an increased risk to develop hypertrophy and hypertension compared to patients with a large residual, regardless of nephrectomy. ABPM revealed absent dipping in most patients with SFK, warning further investigations in apparently not symptomatic patients.

Bladder Mucosal Graft Vaginoplasty: A Case Report.

BACKGROUND: Female vaginoplasty reconstruction, by choice, is usually performed with adjacent tissue. However in some clinical conditions such as high urogenital confluence sinus, cloacal malformation with extreme vaginal hypoplasia, local tissue may not be available. When vaginal replacement is performed in pediatric patients intestinal segments is preferred to non-operative procedures that require continuative dilations. However mucus production, malignant transformation risk and diversion colitis are important side effects. TECHNIQUE: We present a nouvel technique for vaginoplasty in a female child presenting with an isolated urogenital sinus malformation without virilization. The patient at 20 months underwent vaginoplasty using tubularized bladder mucosal graft. RESULTS: Surgical procedure was devoid of complications. Pubertal development occurred at age of 15. She underwent regular follow up until 18 years of age. At this age we performed clinical evaluation: absence of vaginal introitus stenosis and good cosmetic results were observed. Then she underwent vaginoscopy with multiple biopsies. Pathology examination of the bladder mucosal graft evidenced a normal structure of the mucosa, with a stratified squamous epithelium. DISCUSSION: Different techniques are taken into account for vaginal reconstruction according to the severity and to the type of malformation. We describe the use of bladder mucosal graft with favorable results after long term follow-up.

Etiological heterogeneity and clinical variability in newborns with esophageal atresia.

BACKGROUND: The aim of this study was to define different characteristics of infants with esophageal atresia and correlations with neonatal level of care, morbidity and mortality occurring during hospital stay. METHODS: Charts of all newborns with esophageal atresia (EA) admitted to our University NICU between January 2003 and November 2016 were reviewed and subdivided in four groups related to different clinical presentations; EA as an isolated form (A), with a concomitant single malformation (B), as VACTERL association (C), and in the context of a syndrome or an entity of multiple congenital anomalies (D). RESULTS: We recruited 67 infants with EA (with or without tracheoesophageal fistula), distributed in groups as follows: A 31.3%, B 16.4%, C 26.8% and D 25.3%. Type of atresia was not statistically different among different groups. Mortality was higher in groups C and D, especially if associated with congenital heart defects. In survivors, we found different auxological evolution and prognostic profiles considering duration in days of invasive mechanical ventilation and total parenteral nutrition, as well as length of stay and corrected gestational age at discharge. CONCLUSIONS: In the context of genetic and syndromic entities, subjects with VACTERL association showed a lower mortality rate although a higher and more complex level of intensive care was noted in comparison to infants without VACTERL genetic and syndromic entities.

Intraoperative ultrasound-assisted approach for endoscopic treatment of vesicoureteral reflux in children.

PURPOSE: Despite minimal invasiveness and high success rate, guidelines still prescribe voiding Cystourethrogram (VCUG) after endoscopic treatment for vesicoureteral reflux (VUR) in children. The aim of this paper was to analyze whether intraoperative ultrasound (IO-US) could improve surgical accuracy and perioperative counseling, thus potentially decreasing the need for postoperative VCUG. METHODS: We selected children treated for moderate to high grade VUR, renal scarring or repeated infections under antibiotic prophylaxis from January to December 2015. Endoscopic injection was combined with IO-US to detect optimal needle placement and to guide mound formation. IO-US findings were compared to surgeon opinion and postoperative VCUG, performed 3months after surgery. All patients were followed-up for 1year. RESULTS: A significant relationship was found between IO-US mound height (p=0.003) or localization (p<0.0005) and VCUG. Success of endoscopic treatment vs persistence of reflux groups had a mean mound height of 10.62±1.36mm and 8.39±1.08mm respectively (p<0.0005). Height maintained a significant correlation with success in simple and multivariable regression analysis. ROC curve determined ≥9.8mm as predictor of reflux resolution (95% CI 0.825 to 0.998; p<0.0001). CONCLUSIONS: IO-US facilitates pediatric urologists to find an optimal location, to reach a volcano mound morphology and height, thus increasing intraoperative accuracy. IO-US also helps evaluating high-risk recurrence and guiding prognostic counseling. TYPE OF STUDY: Treatment study. LEVEL OF EVIDENCE: II.