Vito Briganti

Meconium obstruction in absence of cystic fibrosis in low birth weight infants: an emerging challenge from increasing survival

BackgroundMeconium abnormalities are characterized by a wide spectrum of severity, from the meconium plug syndrome to the complicated meconium ileus associated with cystic fibrosis. Meconium Related Ileus in absence of Cystic Fibrosis includes a combination of highly viscid meconium and poor intestinal motility, low grade obstruction, benign systemic and abdominal examination, distended loops without air fluid levels. Associated risk factors are severe prematurity and low birth weight, Caesarean delivery, Maternal MgSO4 therapy, maternal diabetes. In the last 20 yrs a new specific type of these meconium related obstructions has been described in premature neonates with low birth weight. Its incidence has shown to increase while its management continues to be challenging and controversial for the risk of complicated obstruction and perforation.Materials and methodsAmong 55 newborns admitted between 1992-2008 with Meconium Related Ileus as final diagnosis, data about Low Birth Weight infants (LBW < 1500 g) were extracted and compared to those of patients ≥ 1500 g. Hischsprungs Diseases and Cystic Fibrosis were excluded by rectal biopsy and genetic probe before discharge. A softening enema with Gastrografin was the first option whenever overt perforation was not present. Temporary stoma or trans appendiceal bowel irrigation were elected after unsuccessful enema while prompt surgical exploration was performed in perforated cases. NEC was excluded in all operated cases. Data collected were perinatal history and neonatal clinical data, radiological signs, clinical course and complications, management and outcome.Results30 cases with BW ≥ 1500 g had an M/F ratio16/14, Mean B.W. 3052 g, Mean G.A. 37 w Caesarean section rate 40%. There were 10 meconium plug syndrome, 4 small left colon syndromes, and 16 meconium ileus without Cystic Fibrosis. Five cases were born at our institution (inborn) versus 25 referred after a mean of 2, 4 Days (1-7) after birth in another Hospital (outborn). They were managed, after a Gastrografin enema with 90% success rate, by 1 temporary Ileostomy and 2 trans appendiceal irrigation. 25 cases with BW< 1500 g (LBW) had M/F ratio 11/14, Mean B.W. 818 g, Mean G.A. 27 w, Caesarean section rate 70%, assisted ventilation 16/25. There were 8 inborn and 17 outborn. Gastrografin enema was successful in 6 out 8 inborn infants only, all referred within one week from birth. There were 12 perforations mainly among late referred LBW outborn.ConclusionsMeconium Related Ileus without Cystic Fibrosis responds to conservative management and softening enema in most of mature infants. In LBW clinical course is initially benign but as any long standing bowel obstruction management may present particular challenges. Clinical and plain radiographic criteria are reliable for making diagnosis and testing for Cystic Fibrosis may not be indicated. Enema may be resolutive when performed in a proper environment. Perforated cases may be confused with NEC which is excluded by clinical history, no signs of sepsis, lab signs missing, abdominal signs missing, typical radiological signs missing. The higher complication rate is recorded among cases delivered and initially managed in Neonatal Units without co-located Surgical Facilities. Early diagnosis and aggressive medical therapy may lead to higher success rate and help avoiding surgical interventions. Surgical therapy in uncomplicated cases, unresponsive to medical management, should be minimally aggressive.

Mortality and long term morbidity in esophageal atresia: the reduced impact of low birth weight and maturity on surgical outcome

Abstract Progress in perinatal and postoperative techniques has reduced the prognostic role of traditional risk factors in esophageal atresia (EA). This paper reports on 75 cases of esophageal anomalies observed between 1992 and 2002 and followed after surgery from a minimum of six months to a maximum of ten years (mean five years). The impact on survival of birth weight, week of delivery, associated anomalies and need of ventilatory support at birth are discussed. Twenty-four patients were born before 37 weeks of gestation, 18 weighed less than 2000 g.; major anomalies affected 11 neonates, 23 cases required mechanical ventilation at birth. Seventy-four patients were operated on with a 90.6% survival rate; no deaths were related to surgical treatment. Three cases required reoperation for postoperative complications. Birth weight and week of delivery did not seem to influence outcome; this is affected by severe associated cardiovascular anomalies and the need of ventilation at birth. Follow up at 24 months on 51 patients, revealed respiratory problems in 12 cases and severe gastro-esophageal reflux in 16. This affected quality of life of EA patients and required long term medical attention; improvement with growth was observed. No correlation between perinatal conditions and late sequelae could be demonstrated in our series.

Jejunoileal atresia: Factors affecting the outcome and long-term sequelae

Context: Jejunoileal atresia (JIA) is a common abnormality. The outcome is conditioned by several variables. Nutritional problems, and long-term sequelae are described among those who survive. Aim: To correlate the type of JIA and its management to the outcome and long-term quality of life. Settings and Design: Forty-three cases over a 17-year period (1992–2009). Perinatal data, management, and outcome were extracted from the clinical notes. The cases that had survived were contacted to get information about their present condition. Materials and Methods: Morbidity and mortality were matched to maturity, birth weight, mode of diagnosis, type of JIA, associated anomalies, and management and duration of parenteral nutrition. Growth and quality of life in 34 cases were evaluated via a telephone interview at a minimum of one year from surgery. Statistical analysis: Fisher test, Linear regression test, Kruskal-Wallis test, Dunns comparison test. Results: Male/Female ratio was 25/18 and median birth weight was 2.644 g. Prenatal diagnosis was recorded in 34%. Six patients (14%) had associated anomalies. Primary surgery was resection and anastomosis in 88% and temporary stoma in 12%. Length of the resected bowel ranged from 3 to 65 cm. Whenever multiple atresia was found, the bowel length was saved by multiple anastomosis. Three dehiscences and three adhesive obstructions required a reoperation. Two patients (4%) died due to a central catheter–related sepsis. Prenatal diagnosis did not influence the outcome and was associated with a higher rate of Cesarean deliveries. Interview, at a median of nine years, showed normal growth in 85%. One case of short bowel syndrome is still on parenteral support at 22 months. Conclusions: Preserving bowel length and reducing the recourse to stoma is the key to good outcome and growth. Sequelae are correlated with the type of atresia and length of residual bowel; however, they decrease their severity with time.

Usefulness of dextranomer/hyaluronic acid copolymer in bronchoscopic treatment of recurrent tracheoesophageal fistula in children

OBJECTIVE Endoscopic repair of recurrent tracheoesophageal fistula (RTF) in infants who underwent surgery at birth for esophageal atresia (EA) is under investigation as an alternative to open surgery, which is technically challenging and associated with high morbidity. The aims of this paper are to present the experience of a single institution in treating RTF using a novel submucosal bronchoscopic injection of biocompatible dextranomer/hyaluronic acid (Dx/HA) copolymer, and to discuss the indications and limitations of this technique. METHODS From 2000 to 2007, 6 children (2 boys; 4 girls) aged 1-48 months, weighing 2.5-18 kg were referred to our hospital for respiratory symptoms (pneumonia and failure to thrive) secondary to suspected RTF. All infants had undergone surgery at birth for EA with inferior tracheoesophageal fistula. Bronchoscopy revealed that five infants had RTF and one had a large remnant tracheal upper-pouch fistula. The bronchoscopic intervention was performed under general anesthesia, using a pediatric rigid bronchoscope with a 0° telescope and telemonitoring. The fistula wall mucosa was gently abraded to promote adhesion, and Dx/HA was then injected at two points in the fistula submucosa to obtain a stable swelling of the wall and closure of the RTF. RESULTS In two infants (aged 1 month and 18 months) complete resolution of the RTF was achieved following two separate procedures with a 1-month interval. In three children (aged 2, 18 and 25 months) complete closure of the fistula was not achieved; however, the partial closure was sufficient to address the respiratory symptoms and allow subsequent standard open thoracic surgery without requiring recovery in the intensive care unit. Complete resolution of respiratory symptoms was also obtained following a single endoscopic procedure with two Dx/HA injections in the child with residual pouch fistula. CONCLUSION Bronchoscopic treatment of RTF with Dx/HA is a simple, minimally invasive, low-risk procedure that enables complete closure of RTF or reduction and resolution of respiratory symptoms, which in turn facilitates uncomplicated thoracic surgery. The technique also provides good results in remnant tracheal upper-pouch fistula.

Fetal intra-abdominal cysts: accuracy and predictive value of prenatal ultrasound

Abstract Objective: The finding of a fetal intra-abdominal cyst is relatively common and it can be due to a wide variety of clinical conditions. The aims of this study were to determine the accuracy of the prenatal ultrasound (US) in identifying the etiology of fetal intra-abdominal cysts and to describe the neonatal outcomes. Methods: All cases of fetal intra-abdominal cystic lesion referred to our center between 2004 and 2012 were reviewed. Cysts of urinary system origin were excluded. Prenatal and postnatal data were collected. Our cohort was divided into subgroups according to the prenatal suspected origin of the lesion (ovarian, mesenteric, gastro-intestinal and other locations). For each subgroup, sensitivity, specificity, positive predictive value, false-positive rate and accuracy of fetal US were calculated. Results: In total 47 fetuses (10/37 M/F) were identified. The mean gestational age at the time of diagnosis was 33 ± 4.9 weeks. Our cohort comprised of 25 ovarian cysts (10 simplex and 15 complex), 3 GI duplication, 6 mesenteric lesions, 4 meconium pseudocyst and 9 lesions of other origin. Surgery was performed in 38 cases (81%) at birth. The prenatally established diagnosis was exactly concordant with post-natal findings in 34 cases (72.3%). Sensitivity, specificity, positive predictive value and false-positive rate of US were 88.1%, 95.5%, 71% and 5.4%, respectively. Long-term outcome was good in almost 90% of the cases. Conclusions: The etiology of fetal intra-abdominal cysts can be prenatally diagnosed in about 70% cases. Despite the high risk of surgery at birth, the long-term outcome was good in most of the cases.

Antenatal Ultrasonographic Features Associated with Segmental Small Bowel Dilatation: An Unusual Neonatal Condition Mimicking Congenital Small Bowel Obstruction

Segmental dilatation of the intestine (SDI) is an unusual condition presenting during the neonatal period, with symptoms of obstruction. Late diagnosed cases are also reported. The clinical polymorphism, and the lack of specificity of radiological investigations, make diagnosis difficult. Prenatal detection of abdominal cystic lesions or bowel dilatation has occasionally been reported to be associated with SDI. We herein report two cases of SDI, with a prenatal ultrasonographic suspicion of intestinal abnormality. In both infants, a dilatation of the ileum was found at surgery, without any evident site of obstruction or abnormal histology. SDI must be taken into consideration when a prenatal alert of possible bowel obstruction is not followed by postnatal clinical signs.

Non-Coding RNAs and Endometrial Cancer

Non-coding RNAs (ncRNAs) are involved in the regulation of cell metabolism and neoplastic transformation. Recent studies have tried to clarify the significance of these information carriers in the genesis and progression of various cancers and their use as biomarkers for the disease; possible targets for the inhibition of growth and invasion by the neoplastic cells have been suggested. The significance of ncRNAs in lung cancer, bladder cancer, kidney cancer, and melanoma has been amply investigated with important results. Recently, the role of long non-coding RNAs (lncRNAs) has also been included in cancer studies. Studies on the relation between endometrial cancer (EC) and ncRNAs, such as small ncRNAs or micro RNAs (miRNAs), transfer RNAs (tRNAs), ribosomal RNAs (rRNAs), antisense RNAs (asRNAs), small nuclear RNAs (snRNAs), Piwi-interacting RNAs (piRNAs), small nucleolar RNAs (snoRNAs), competing endogenous RNAs (ceRNAs), lncRNAs, and long intergenic ncRNAs (lincRNAs) have been published. The recent literature produced in the last three years was extracted from PubMed by two independent readers, which was then selected for the possible relation between ncRNAs, oncogenesis in general, and EC in particular.

Labia minora hypertrophy: causes, impact on women’s health, and treatment options

Introduction and hypothesisWe provide a review of the literature about the onset and development of hypertrophy of the labia minora, together with some expert opinions on the appropriateness of labiaplasty.MethodsWe searched PubMed and used popular search engines, with a greater emphasis on the physiology and hormone-mediated metabolism of these structures, and less emphasis on their surgical treatment.ResultsWe describe major embryological, cytological, and biochemical features of this anatomical part and summarize the clinical aspects of its hypertrophy, evaluating types of discomfort reported by women and the medical treatments available. Also, based on what is known about the artificial elongation and spontaneous hypertrophy of the inner labia, we illustrate and discuss the main biological factors that may trigger this medical condition. There are not enough data identifying a clear inheritance of inner labia hypertrophy in the absence of other pathological conditions; instead, we found indirect evidence for an association with transient episodes of local inflammation either before birth or during puberty. We also analyze the role played by estrogen receptors and other factors with regard to the onset of this condition and highlight the importance of their timing in determining the size of women’s labia minora. Remarkably, most cases of enlarged labia minora should be considered as outliers that are within the physiological range of size variation described for these structures.ConclusionsWe generally advise against surgical treatment of labia minora, especially in young, pre-pubertal girls, unless specific medical conditions are also present and/or the psychological impact on the patient is deemed particularly negative.

Role of Non-Coding RNAs in the Etiology of Bladder Cancer

According to data of the International Agency for Research on Cancer and the World Health Organization (Cancer Incidence in Five Continents, GLOBOCAN, and the World Health Organization Mortality), bladder is among the top ten body locations of cancer globally, with the highest incidence rates reported in Southern and Western Europe, North America, Northern Africa and Western Asia. Males (M) are more vulnerable to this disease than females (F), despite ample frequency variations in different countries, with a M:F ratio of 4.1:1 for incidence and 3.6:1 for mortality, worldwide. For a long time, bladder cancer was genetically classified through mutations of two genes, fibroblast growth factor receptor 3 (FGFR3, for low-grade, non-invasive papillary tumors) and tumor protein P53 (TP53, for high-grade, muscle-invasive tumors). However, more recently scientists have shown that this disease is far more complex, since genes directly involved are more than 150; so far, it has been described that altered gene expression (up- or down-regulation) may be present for up to 500 coding sequences in low-grade and up to 2300 in high-grade tumors. Non-coding RNAs are essential to explain, at least partially, this ample dysregulation. In this review, we summarize the present knowledge about long and short non-coding RNAs that have been linked to bladder cancer etiology.

Kidney injury owing to Streptococcus pneumoniae infection in critically ill infants and children: report of four cases

Streptococcus pneumoniae sepsis has high morbidity, particularly if complicated by renal injury. Four patients with S. pneumonia invasive infections complicated by renal disorders are presented. The first case was an 18-month-old girl with pneumococcal empyema complicated by haemolytic uraemic (HUS) syndrome. She made a full recovery after mechanical ventilation, inotropic support and haemodiafiltration. The second was a 4-year-old boy who presented with acute post-infectious glomerulonephritis associated with bilateral pneumococcal pneumonia. He too made a complete recovery. The third was a newborn girl with pneumococcal meningitis complicated by acute respiratory distress syndrome and acute renal failure. The fourth patient was an 8-month-old boy with pneumococcal pneumonia and meningitis complicated by HUS and with fulminant thrombotic thrombocytopenic purpura. Despite full support including mechanical ventilation and haemodiafiltration, he died 4 days after admission. On follow-up, all three survivors recovered completely from their pulmonary symptoms and had normal renal function and cardio-circulatory status in the mid-term.