A case of double cystic esophageal duplication in VACTERL syndrome: the first case report and a review of the literature.

Background: An esophageal duplication cyst (EDC) is a rare malformation resulting from the embryonic foregut. VACTERL syndrome is a genetic disorder affecting many systems of the human body. We report the first case of VACTERL syndrome associated to asymptomatic double EDC. Case report: A girl with anorectal malformation and rectovestibular fistula, kidney malformation, and various vertebral defects came to our attention at the time of birth. VACTERL disease was diagnosed. She underwent Peña anoplasty at 4 months of life without complications. MRI was conducted at the age of 2. It accidentally showed a double esophageal duplication (12 mm × 35 mm × 10 mm) at the D7-D9 level. We planned a thoracoscopy; previous intraoperative esophagogastroduodenoscopy showed an external compression of the native esophagus. Two duplicated esophageal lesions were removed. The patient made an uneventful recovery and was completely asymptomatic at long-term follow-up. Conclusions: VACTERL syndrome is still a not well-defined disease. Based on the current literature, this is the first case of a double esophageal duplication in a patient affected by VACTERL syndrome. According to us, the thoracoscopic approach of esophageal duplications can be followed by experts. Complete surgical excision is possible even if the cyst shares a common muscular wall with the esophagus. For this reason, we suggest to close the muscular wall by a simple interrupted suture.

Pulmonary arterial hypertension: guidelines and unmet clinical needs.

The term pulmonary arterial hypertension (PAH) identifies a heterogeneous group of diseases characterized by a progressive increase in pulmonary arterial resistance (PVR), which causes a significant burden in terms of quality of life, right heart failure and premature death. The pathogenesis of PAH is not completely clear: the remodeling of the small pulmonary vessels is crucial, causing an increase in the resistance of the pulmonary circle. Its diagnosis is based on cardiac catheterization of the right heart. According to the present hemodynamic definition of pulmonary hypertension (PH) proposed by the Guidelines of the European Society of Cardiology/European Respiratory Society (ESC-ERS), the mean pulmonary arterial pressure (mPAP) values are ≥25 mmHg. In case of PAH, apart from an mPAP value ≥25 mmHg, patients must have a >3 Wood units increase in PVR and normal pressure values of the left heart. PH is a pathophysiological condition observed in more than 40 different diseases, while PAH is a primary disease of the pulmonary bloodstream potentially treatable with specific drugs. PAH is a severe complication of systemic sclerosis (SSc) affecting about 10% of the patients. Due to the devastating nature of SSc-PAH, there is a clear need to systematically adopt appropriate screening programs. In fact, despite awareness of the negative impact of SSc-PAH on quality of life and survival, as well as on the severity of lung function, at the moment standardized and shared guidelines and/or screening programs for the diagnosis and the subsequent early treatment of PAH in SSc are not available. The aim of the present paper is to highlight the lights and shadows of SSc-PAH, unraveling the unmet clinical needs on this topic with a proposal of clinical-diagnostic and therapeutic guidelines.

Isolated Vaginal Agenesis Associated with Multiple Gastrointestinal Anomalies: A Case Report.

More than 50% of infants with esophageal atresia have associated anomalies. We present a case report of a 46XX neonate with long-gap esophageal atresia and tracheoesophageal fistula (EA/TEF), anorectal malformation, bowel duplication and vaginal agenesis. This is an unusual association of abnormalities which had not yet described in literature.

Association of Duodenal Atresia, Malrotation, and Atrial Septal Defect in a Down-Syndrome Patient.

Duodenal atresia is the frequent cause of neonatal intestinal obstruction. The association between duodenal atresia, intestinal malrotation, cardiac anomalies and Down syndrome is infrequently reported. We present a prenatally suspected case of duodenal atresia which was associated with malrotation and atrial septal defect in a patient of Down syndrome. Duodenotomy and resection of web was performed in addition to Ladd's procedure. Postoperative course remained uneventful.

Continence and quality of life with the modified Heitz-Boyer-Hovelacque rectal bladder for children with urinary incontinence following bladder exstrophy.

BACKGROUND: Bladder exstrophy and epispadias are severe congenital anomalies associated with an open bladder and urinary sphincter. Despite modern reconstruction, there is a significant incidence of residual or recurrent urinary incontinence that impacts on quality of life (QoL) and self-esteem, which in turn limits social interaction (Figure). The present study involved 14 patients, mainly from a Middle Eastern country, and reported the early findings with a modification of the Heitz-Boyer-Hovelacque rectal bladder technique for both urinary and faecal control. STUDY DESIGN: Fourteen children, with a median age of 8.1 years, with poor quality of life and low self-esteem because of urinary incontinence and small polypoidal open bladders of 5-15 ml volume, mostly after bladder exstrophy surgery, were managed with a modification of the Heitz-Boyer-Hovelacque rectal bladder technique keeping an intact anal sphincter. The retrorectal pulled-through colon was anastomosed to the posterior wall of the rectum just above the external sphincter complex, thereby avoiding any possible injury to the anal sphincter. All patients had a normal colon and a competent anal sphincter without lumbosacral spinal or nerve anomalies. RESULTS: Ten children had a 5- to 10-year follow-up, one child had a 15-year follow-up, and three others, that were also continent, were excluded because of a <5-year follow-up. There were no postoperative complications, and all were dry and odour-free by day within 2-4 weeks of surgery. Two children still had minor urinary loss at night. There were no UTIs and renal function remained unimpaired. Eleven years after surgery, one child underwent excision of a pedunculated benign inflammatory polyp from the tip of the left ureter because of recurrent torsion and bleeding, there was no recurrence at the 2-year follow-up. None of the rectal or ureteric biopsies from any of the children showed metaplasia or neoplasia; however, in view of the potential long-term risks, all children were placed on a lifelong 'proctoscopy and biopsy' protocol. DISCUSSION: The ability to be dry and odour-free, and to wear normal clothing had a striking impact on QoL and psychological well-being of the children and their families. This was reflected in their positive overall approach, voluntary school attendance, and enthusiastic participation in communal events. All agreed that their improved genital appearance markedly contributed to their better body image and increased self-esteem. CONCLUSION: These significant benefits, at a crucial time in the child's life, outweigh the potential risk of long-term neoplasia. Therefore, the Heitz-Boyer-Hovelacque rectal bladder technique is recommended with long-term proctoscopic follow-up.

Digital ulcers in scleroderma patients: A retrospective observational study.

BACKGROUND: The guidelines for digital ulcers (DUs) management in systemic sclerosis (SSc) indicate the use of iloprost to induce wound healing and bosentan to prevent the onset of new DU. The aim of our study was to evaluate whether the combination treatment may surmount the effect of the single drug. METHODS: We analyzed data regarding 34 patients with SSc and at least one active DU persisting despite 6 months of iloprost therapy, and treated for other 6 months with a combination therapy, i.e. iloprost plus bosentan. RESULTS: Overall, patients initially presented 69 DUs (58 on the fingers and 11 on the legs). At the end of the study 34 (49.3%) DUs were completely healed (responding, R), 18 (26.1%) started the healing process (partially responding, PR), and 17 (24.6%) did not respond (NR) to therapy. No new DU was recorded and the ulcers localized on the legs did not respond to the combination therapy. Finally, data have been analyzed by dividing the patients in two groups according to the fibrosis level on the finger. In the group with mild fibrosis, 83.4% of DUs resulted with showing complete healing while, in the group with severe fibrosis, only 18% of DUs were healed (P = 0.024). CONCLUSION: The treatment with iloprost plus bosentan is effective in determining healing of DUs in SSc patients with mild digital skin fibrosis. Conversely, the severity of skin fibrosis strongly influences the healing process of DUs. The study confirmed the efficacy of bosentan to prevent onset of new DUs.

Ultrasound signs of pulmonary fibrosis in systemic sclerosis as timely indicators for chest computed tomography.

OBJECTIVES: Systemic sclerosis (SSc) patients in the early stages of pulmonary fibrosis (PF) often have few or no symptoms, normal to borderline pulmonary function tests, and negative chest X-ray (CXR); high-resolution computed tomography (HRCT) is the only reliable means of detecting the early signs of PF. However, thoracic ultrasound (TUS) enables detection of pleural thickening, pleural/subpleural nodules, and other subpleural lung abnormalities across 70% of the subpleural surface. We reassessed concordance between TUS abnormalities and HRCT findings in SSc patients, to see whether TUS pleural line thickness (normally <3.0 mm) could be used to earmark those with asymptomatic PF for timely HRCT assessment. METHOD: In total, 175 SSc patients (nine males, 166 females), aged 46.46±15.33 years, were given CXR, TUS, HRCT, echocardiography, and pulmonary function tests. RESULTS: In the 26 patients without HRCT signs of PF, pleural line thickness was ≤3.0 mm. In diffuse SSc, 97/137 patients showed pleural line thickening (between 3.0 and 5 mm) and subpleural nodules in 32/97; and 35/137 showed major pleural line thickening (≥5.0 mm) with nodules, with good concordance with HRCT patterns indicating lung fibrosis severity. HRCT was normal in 5/137, with pleural line thickness≤3.0 mm. CONCLUSIONS: TUS imaging of pleural/subpleural structures can detect ultrasonographic signs of initial PF prior to the onset of respiratory symptoms and function test abnormalities and, together with current criteria, could thereby enable exclusion of PF in SSc patients. Indicating some patients for selective referral to HRCT can thereby delay unwarranted procedures, provided that pulmonary function and TUS images are stable.

Herlyn-Werner-Wunderlich syndrome: An "early" onset case report and review of Literature.

Herlyn-Werner-Wunderlich syndrome (HWWS) is a rare congenital mullerian anomaly consisting of uterus didelphys, hemivaginal septum, and unilateral renal agenesis [1,2]. Most authors reported cases of Herlyn-Werner-Wunderlich syndrome with prepuberal or postpuberal onset with cyclical abdominal pain and a vaginal mass (3-8). Only six cases are reported in Literature with early onset of this syndrome under 5 years (9-14). Our case is about 3 years old girl, with all the features of this syndrome who came to our attention for lower abdominal mass. The aim of this article is to share our experience and focus the attention on the importance of high level of suspicion of HWWS in neonatal period to early diagnosis and treatment. The possible early presentation of this syndrome should be suspected in all neonates (females) with renal agenesia confirmed postnatally or with prenatal diagnosis. It is common, in fact, an error of evaluation with planning of removal of mass, that can damage patients in term of chance for a successful reproductive outcome. For all these reasons, our team consider HWWS as differential diagnosis in newborn with prenatal ultrasonography of a cystic mass behind the urinary bladder in the absence of a kidney and plan a pelvic ultrasound (with aim to identify an uterus, normal or dydhelfus, and presence or absence of pelvic mass), an examination under anesthesia and cystoscopy and vaginoscopy, if it is necessary. A high level of suspicion, indeed, is the key to early diagnosis.

Evaluation of subclinical endometritis and consequences on fertility in piedmontese beef cows.

Subclinical endometritis (SEM) is poorly investigated in beef cows, as stated in the literature. This project aims to evaluate the rate and the consequences of SEM in Piedmontese cows, with a focus on bacteriological findings and fertility parameters. Uterine cytology was performed for 97 subjects; a total of 31% of the cows were diagnosed as being positive for SEM and as having an 8% neutrophil (PMN) presence on the slide, which is considered as the best cut-off to diagnose the pathology. Only 13% of the cows positive for SEM were pregnant within 130 dpp and generally showed increases of 40 days in the partum to conception interval compared with the negative cows (142 vs 182, p = 0.01). Cows positive for both bacteriology and cytology showed a lower fertility than cows with only inflammation or only a bacterial presence (p = 0.0004). Bacterial isolation detected different species, but no difference in regard to the impact of these bacteria on SEM was shown. Parity, presence of calves, hygiene condition, age and number of service did not affect whether a cow was positive for subclinical endometritis (p < 0.05). The housing system (free stalls vs tie stalls) used seems to affect the SEM rate in Piedmontese cows; cows bred in tie stalls were more likely to be positive for SEM (OR = 2.2; p = 0.04). In conclusion, cytology seems to be a good technique for the diagnosis of subclinical endometritis in beef cows, and as in dairy cows, subclinical endometritis has a detrimental effect on fertility, causing an increase in partum to conception and a decrease in the rate of cows who become pregnant within 130 dpp, particularly for those cows housed in a tie stall.

Esophagogastric dissociation reduces the re-operation rate for persistent gastroesophageal reflux in severely neurologically impaired children.

PURPOSE: In this study we want to demonstrate the effectiveness of the esophagogastric dissociation as a first level operation in treatment of the gastroesophageal reflux in severe neurologically impaired children, in term of a reduction of reoperation rate. METHODS: We divided patients operated from 1998 to 2005 in a group A, composed by children treated with fundoplication, and in a group AR, composed by the patients of group A who had a recurrence of reflux and that was treated with esophagogastric dissociation. Patients operated from 2005 to 2013 were selected on the basis of the severity of the neurological impairment and were divided in a group B, treated with fundoplication, and in a group C of more severe impaired children, treated with esophagogastric dissociation. Data regarding the complications of the A and C groups were analyzed with Fisher's test. RESULTS: We evaluated 63 patients: 34 (54%) in group A, 11 in group AR, 15 (23.6%) in group B, 14 (22.4%) in group C. The Fisher's test showed a non significant difference with a p value of 0.2. CONCLUSION: Despite of statistic result we believe that TOGD is a useful procedure as the first choice of surgical management in severe neurological impaired children affected by gastroesophageal reflux.

Uncommon surgical emergencies in neonatology.

Objective. Over the past decade, multiple factors have changed the pattern of neonatal surgical emergencies. An increase in prenatal screenings and the development of neonatal tertiary care centres have changed the clinical approach to these kids. Materials and methods. Between 1995 to 2011 were retrospectively reviewed 34 patients with diagnosis of uncommon rare neonatal surgical emergencies at our institute. We analyzed: sex, gestational age, weight at birth, primary pathology, prenatal diagnosis, associated anomalies, age and weight at surgery, clinical presentation, start of oral feeding and hospitalization. The follow-up was performed at 6,12, 24 and 36 months. Results. There were 21 male and 13 female. The gestational age ranged between 28 and 36 weeks. The weight at birth ranged between 700 and 1400 grams. Oral feeding was started between 4th and 10th postoperative day. The average hospitalization was about 70.47 days. To date, all patients have finished the followup. They are healthy. Conclusion. The outcome of the patients with uncommon surgical emergencies is different based on the etiology. Overall survival is generally good but is influenced by the associated anomalies.

Preoperative distraction in children: hand-held videogames vs clown therapy.

Anxiety in children undergoing surgery is characterized by feelings of tension, apprehension, nervousness and fear which may manifest differently. Postoperative behavioural changes such as nocturnal enuresis, feeding disorders, apathy, and sleep disturbances may stem from postoperative anxiety. Some Authors pointed out that over 60% of children undergoing surgery are prone to developing behavioural alterations 2 weeks after surgery. Variables such as age, temperament and anxiety both in children and parents are considered predictors of such changes.1 Studies were published describing how psycho-behavioural interventions based on play, learning and entertainment in preparing children for surgery, may reduce preoperative anxiety. Clown-therapy is applied in the most important paediatric facilities and has proved to diminish children's emotional distress and sufferance, as well as consumption of both analgesics and sedatives and to facilitate the achievement of therapeutic goals. The aim of our study was to evaluate the efficacy of clown-therapy during the child's hospital stay, with a view to optimizing treatment and care, preventing behavioural alterations and enhancing the child's overall life quality.

Ileostomy in extremely low birth weight and premature neonates.

AIM: The establishment of an ileostomy is a surgical option in the treatment of neonatal intestinal diseases, such as necrotizing enterocolitis (NEC) and meconial disease, in premature or extremely-low-birth-weight (ELBW) infants. METHODS: A prospective study was performed between July 2000-April 2011, with in exam all cases of acute abdomen in newborn premature babies. We perfomed a temporary ileostomy with a skin bridge and resection of the necrotic intestine. The temporary ileostomy was followed by anastomosis and the effect of possible confounding factors were assessed on the intestinal canalization. Data analysis and multiple monovariate were conducted. RESULTS: Thirty-three neonates, 14 males and 19 females, operated for intestinal perforation were identified. They were ELBW or premature neonates. There were 24 neonates with NEC, 4 with meconium peritonitis and 5 with complicated meconium ileus. In 4 cases of meconium ileus we found ileale atresia. Eight patients were excluded from the study because 3 died; 2 had cystic fibrosis and 3 with hydrocephalus. Thirteen patients developed complications: 7 related to ileostomy, 2 cholestasis and 4 recurrent NEC. Patients with meconium ileus gain rcovery of bowel function 4 days or more the others (OR=8.0; P=0.0455). CONCLUSION: In our experience, the establishment of ileostomy for the treatment of acute abdomen in child newborn premature or low birth weight allows optimal management of the child, excluding bowel sick and faster healing with a low rate of morbidity and mortality.

Cervical Lymphadenitis by Mycobacterium triplex in an Immunocompetent Child: Case Report and Review.

Mycobacterium triplex was first described in 1996. This nontuberculous Mycobacterium causes a severe pulmonary disease in immunocompromised patients but it can involve also healthy patients. A literature search was made on the PubMed database and it produced only few cases of children with cervical lymphadenitis due to this Mycobacterium Triplex. We are describing a case of M. triplex cervical lymphadenitis in an immunocompetent child.

Role of mini-invasive surgery in the treatment of enteric duplications in paediatric age: a survey of 15 years.

BACKGROUND: Gastrointestinal tract duplications (ATD) are rare malformations that occur with an incidence of 1 in 4000-5000 live births, with heterogeneous clinical pictures in relation to the different location and size. The purpose of this study was to analyze the role of minimally invasive surgery in the management of ATDs, through a critical analysys of 15 years of experience of the Department of Paediatric Surgery, University of Bologna. METHODS: The medical records of 22 children diagnosed with ATDs were retrospectively reviewed (January 1995-August 2010). The study analyses: clinical presentation, preoperative diagnosis, site, anatomic type, treatment, and outcome. RESULTS: Children were 16 males and 6 females, with age ranged from 1 day to 10 years. 20 ATDs (91%) were cystic type, while 2 cases (9%) were tubular one. During the first period of our experience, 10 (45.5%) cases were approached with an open surgery. Then subsequent 8 (36.4%) cases were treated with a diagnostic laparoscopy. This approach permitted also to perform a minilaparotomy, close to the site of the malformation, with a short length of the scar. In 2 cases (9%), we realized an ileal resection with end-to-end anastomosis with a trans-umbilical video-assisted procedure. In 2 cases (9%), we performed a complete removal of the lesions, after complete ligation of the vascular pedicle through a laparoscopic approach. 10 cases (45.5%) were located in the ileum, 6 cases (27.3%) were esophageal duplication, 3 cases (13.6%) were gastric duplications, 2 cases (9%) were located in the colon-rectum. The postoperative course was uneventful in all the cases. DISCUSSIONS AND CONCLUSIONS: this study shows how, in the management of intestinal duplications, a mininvasive approach, is increasingly taking the field, along with increasing the "learning curve" with laparoscopy. In experienced hands, the laparoscopic approach allows an accurate definition of the exact site of duplication and a miniinvasive treatment with similar principles of open techniques.

Surgical management of congenital chylothorax in children.

PURPOSE: Aim of the study was to determine the role of surgery in the management of congenital chylothorax (CC). METHODS: We retrospectively reviewed the data of patients with CC requiring medical or surgical treatment postnatally in our institution between January 2001 and March 2009. RESULTS: Ten patients were treated for CC. We divided our population into 2 groups: group A consisted of patients in whom CC healed after conservative medical treatment (thoracocentesis, pleural drainage, total parental nutrition, somatostatin, intrapleural injections of povidone-iodine), and group B of patients who needed both medical and surgical treatment (pleural abrasion and/or pleurectomy). Conservative postnatal therapy was successful in 50% of cases. Of the 3 patients treated preoperatively with intrapleural injections of povidone-iodine, 2 presented with severe complications. Surgical treatment was successful in all cases, with no surgical complications. Patients in group B had a significantly lower birth term (p=0.0254) and birth weight (p=0.0021) compared to patients in group A. Patients with a massive chylothorax (≥50 mL/kg/day) needed surgery significantly more often than those with chylothorax <50 mL/kg/day (p=0.0119). CONCLUSION: The initial postnatal medical management of CC should consist of thoracocentesis, drainage by tube thoracostomy, and total parenteral nutrition. If this treatment fails after 10 days, we propose using alternative therapies such as somatostatin (although its efficacy is not clear) and surgery. Chemical pleurodesis by intrapleural injection of povidone-iodine must be avoided in infants and small babies. Surgical management by pleural abrasion and/or pleurectomy appears to be safe and effective. Early surgical management is proposed for babies with low birth term, birth weight and massive chylothorax >50 mL/kg/day. Long-term follow-up is needed to evaluate the potential consequences of this therapy.

Idiopathic spontaneous intestinal perforation: a distinct pathological entity in the preterm infant.

AIM: Necrotizing enterocolitis (NEC) is the most common cause of intestinal perforation in newborn children. A novel condition of idiopathic spontaneous intestinal perforation (SIPI) was recently described, which does not show clinical and diagnostic features of NEC. The aim of the present study was to define clinical peculiarities and potential risk factors in newborns by comparing SIPI and NEC patients. METHODS: In the last six years, 85 preterm infants have necessitated surgical counseling for acute abdominal conditions. Among them, 13 underwent emergency surgery, 6 for SIPI and 7 for NEC respectively. Patients were then subdivided into three groups: group 0: 72 infants who did not need surgery; group I: 6 patients with SIPI; group II: 7 patients with NEC. Some variables were retrospectively analyzed and were compared by means of chi(2) test with a significant value of P<0.05. RESULTS: No association emerged between patient's sex gender (P=0.691), membrane ruptures (P=0.400) and maternal infection (P=0.415). A correlation was observed between pneumoperitoneum and SIPI/NEC (P=0.000). The study on group I and II showed a lower gestational age (27.3 as compared to 30.28 weeks) and a higher number of membrane ruptures (4/6 as compared to 3/7) and of maternal infections (4/6 as compared to 3/7). CONCLUSIONS: This study showed that a determining factor for the etiopathogenesis of SIPI may be neonatal stress consequent to preterm birth. Infants under 28 weeks of gestational age, with low birth weight, show a particular predisposition to SIPI, with a risk accounting to 96% of the present case series.

[Neonatal neuroblastoma and prenatal diagnosis]. / Neuroblastoma neonatale e diagnosi pre-natale.

The improvement of the imaging has considerably increased the number of cases of neuoroblastoma, diagnosed in preborn age. The authors present a case of neonatal neuroblastoma diagnosed in prenatal age and managed with a multidisciplinary approach. The authors report the case of R.T., born from a scheduled Caesarean delivery. The echographic morphological prenatal diagnosis showed an abdominal mass of 3x2 cm located on the upper side of the kidney, which was not apparently involved. Postnatal ultrasound evaluations confirmed that diagnosis. The diagnostic programme included nuclear magnetic resonance and a renogramm with metaiodobenzylguanidine. These exams confirmed the presence of a mass, probably due to a neuroblastoma. Due to the increasing of the mass, the patient underwent surgical excision of the neoplastic mass. The histological examination confirmed the diagnosis of neuroblastoma Stage I without medullary involvement. During the operation, a medullary biopsy was performed. The FISH exam did not show the amplification of N-myc or a delection of p36 chromosome. For patients younger than 18 months there is no therapeutic gold standard for the treatment of suprarenal masses of neoplastic origin, and the approach is still controversial. The complete excision of the mass should be taken in consideration in presence of an increasing neoformation, and should not include any chemotherapeutical or radiation therapy for stage I, II, IVs (INSS) or L1, MS (INGRSS) neoformations. In conclusion, the effectiveness of a multidisciplinary approach of neonatal neuroblastoma is higher in the early diagnosis and in an accurate staging of the disease, which is fundamental for the favourable prognosis.