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Negrisolo S, Benetti E, Centi S, Della Vella M, Ghirardo G, Zanon GF, Murer L, Artifoni L. PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies. Heterozygous humans for PAX2 mutations show autosomal dominant papillorenal syndrome (PRS), consisting of ocular colobomas, renal hypo/dysplasia and progressive renal failure in childhood. PAX2 mutations have also been identified in patients with isolated renal hypo/dysplasia. Twenty unrelated children and young adults with kidney and urinary tract malformations and no ocular abnormalities were retrospectively recruited for PAX2 mutational analysis. All patients had undergone renal transplantation after end-stage renal disease. We identified two new sequence variations: (i) a deletion causing a frameshift (c.69delC) and (ii) a nucleotide substitution determining a splice site mutation (c.410+5 G/A) by predictive analysis. Therefore, we suggest PAX2 molecular analysis to be extended to all patients with congenital malformations of kidney and urinary tract (CAKUT). [ABSTRACT FROM AUTHOR]

Mesenchymal hamartoma of the liver (MHL) is an uncommon benign hepatic tumor typically affecting children under 2 years of age. Only 5% of MHL occur after 5 years and are very rarely observed in adults. According to age, MHL may differ in their morphologic features. We report a case of an 11-year-old boy with MHL, resembling a malignant lesion from a clinical point of view, characterized by unusual histologic features: a prominent myxoid stroma, with a minimal ductular component, and absent cystic spaces. The present case and others reported in older children or adults demonstrate that these lesions may represent a potential diagnostic pitfall when occurring outside their classic clinical context especially because of their peculiar histologic findings. Moreover, it may be hypothesized that variation in morphology might be related to different evolutive stages of the cell of origin. To support this hypothesis, we therefore studied the presence of components of the Notch pathway inside and outside the lesion. Their absence inside the tumor and, in contrast, the expression of Notch2 and HES1 evident in overrepresented bile ducts present at the periphery might explain not only the lack of bile ducts, but also indicate a more adult phenotype compared with classic pediatric MHL, which show more bile ducts and liver trabeculae embedded in the mesenchymal matrix.

Purpose: Branching variations of the left portal vein can be managed but they may require technical adaptation. The aim of the present study was to investigate the pattern of ramification of the left portal vein in vascular casts and in radiological images., Methods: 50 vascular casts and 200 computed tomography (CT) angiographies of the upper abdomen were analyzed. Analyses of the vascular casts and of the radiological images were conducted to evaluate the morphology of the left liver, the modality of division of the portal vein, and the number of branches destined for segments 2, 3, 4., Results: In the vascular casts the portal vein presented bifurcation in 75%, trifurcation in 20%, and quadrifurcation in 5%, whereas in the radiological study the portal vein presented bifurcation in 90% and trifurcation in 10% of the cases. For segment 2 in the vascular casts, in their CT and in the radiologic in vivo study a number from 1 to 3 branches was found, coming from the medial or posterior aspects of the left portal vein. For segment 3 in the vascular casts, in their CT and in the radiologic in vivo study a number from 1 to 6 branches was found, coming from the posterior and medial aspects of the left portal vein and its the cul-de-sac. For segment 4 in the vascular casts, in their CT a number from 5 to 9 branches was found (in the radiologic in vivo study from 4 to 9), coming from the posterior and ventral aspects of the left portal vein and from its cul-de-sac. No branches were found to come from the lateral aspect of the left portal vein. Moreover, the modality of branching of the left portal vein correlated with the morphology of left liver., Conclusions: Knowledge of the pattern of branching of the left portal vein is important for surgical purpose. CT angiography is a valuable preoperative examination to visualize the branching pattern of adult patients.

Consumptive hypothyroidism is a rare condition usually described in association with diffuse infantile hemangioma of the liver, over-expressing type 3 iodothyronine-deiodinase. We report a case of acquired hypothyroidism associated with a parotid hemangioma in a male child, who was initially evaluated at 48 days of age due to persistent jaundice. Replacement hormonal therapy was promptly started, but resolution of the clinical and laboratory findings of hypothyroidism was only achieved at 3 months of age, when propranolol treatment was added to the therapeutic regimen. Our review of the literature retrieved only one case of proven consumptive hypothyroidism associated with a parotid infantile hemangioma, making a real incidence an underestimate: we believe one should consider this association a real possibility.

Lymphocele is a well-known postoperative complication after kidney transplantation. The aim of this study was to analyze time trend incidence, risk factors, and outcome of post-transplant lymphocele in a large pediatric cohort. This is a retrospective single institution review of 241 pediatric kidney transplants performed from 2000 to 2013. Etiology of end-stage renal disease, recipient age and gender, transplant year, BMI percentile for age, type of dialysis, living/non-living related donor, acute rejection, and multiple transplantations were analyzed in association with lymphocele formation. Fourteen of 241 (5.81%) children developed a postoperative lymphocele. There has been a reduction in the incidence of lymphocele after 2006 (3.22% vs. 8.55%, p < 0.05). Significant risk factors for lymphocele were older age (≥11 yr), transplant before 2006, male gender, BMI percentile for age ≥95%, and multiple transplantations (p < 0.05). The one-yr graft survival was significantly reduced in the group with lymphocele compared with control (81.2% vs. 92.51%, p < 0.04). This is the first pediatric report showing the following risk factors associated with post-transplant lymphocele: age ≥11 yr, male gender, BMI for age ≥95%, and multiple transplantations. A lymphocele can contribute to graft loss in the first-year post-transplant., (© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Background/purpose: In neutropenic children with hematologic malignancies, the optimal timing of implanted central venous catheter (ICVC) insertion is unclear. The policy in our Institution has been to place ICVC at the time of diagnosis of disease regardless of the absolute neutrophil count. The impact of this strategy on the incidence of ICVC removal within 30 days of placement was evaluated in a series of patients. Other possible risk factors for ICVC early removal were also examined., Materials and Methods: Records of all children with hematologic malignancies who underwent placement of ICVC during 2007 to 2010 were reviewed. The incidence of catheter-related complications and early removal was compared between subjects who were neutropenic at the time of ICVC placement and those who had a normal absolute neutrophil count., Results: An ICVC was placed in 117 children, and only in 12 (10.2%) children it was removed within 30 days. However, the incidence of complications and removal was not influenced by the presence of neutropenia. Only an age below 2 years was demonstrated to be a risk factor for early complication and removal., Conclusions: The policy to place ICVC in neutropenic patients has been reasonably safe, in our hands. Meticulous preoperative evaluation, the accurate surgical technique and considerable care in their postoperative management are essential to prevent complications, especially in newborns and infants, who seem to be at greater risk of ICVC removal.

There is mounting evidence that the quality of organs from cadaver donors may be influenced by events occurring around the time of brain death. Aim of this present study was to analyze the correlation of DGF with brain-dead donor variables in a single-center pediatric population and to evaluate DGF influence on patients- and grafts outcome. End-points of the study were DGF prevalence, DGF donor-related risk factors, graft function, patient- and graft survival rate, respectively, at six, 12, and 24 months FU. The univariate analysis showed that donor age above 15 yr and vascular cause of donor brain death represented risk factors for DGF. The multivariate analysis confirmed as independent risk factors for DGF donor age >15 yr. At six months FU, DGF showed a negative impact on graft function. In conclusion, among all considered brain-dead donor resuscitation parameters, just non-traumatic cause of death turned out to be of impact for DGF. Donor age >15 yr represented the only independent risk factor for prolonged DGF in our series of children. At two-yr FU, DGF showed a transient negative impact on six-month graft function., (© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Background: Near-infrared spectroscopy (NIRS) is a non-invasive technique designed to study regional oxygenation (rSO(2)) by measuring the absorption of chromophores. This study investigated the role of NIRS in the real-time monitoring of kidney graft perfusion for 72 h post-transplantation., Methods: Consecutive children undergoing living related donor (LRD) or deceased donor (DD) kidney transplantation (KTP) were prospectively enrolled between April 2010 and August 2011. Renal rSO(2) values were registered continuously for 3 days and correlated with hourly urine output, serum creatinine, and urinary neutrophil gelatinase-associated lipocalin (u-NGAL)., Results: Twenty-four children were included, 6 underwent LRD and 18 DD KTP. Median age was 12.5 years (interquartile range [IQR] 3.5-16.6) and median body weight was 37 kg (IQR 13-49.7). Four patients experienced delayed graft function (DGF). Renal Doppler ultrasound showed normal vascularization patterns in all children. Median basal renal rSO(2) value was 68.8 % (IQR 59.3-76.2), significantly lower than the end-of-period result (83.6 %; IQR 79.2-90.4; p < 0.0001). Renal rSO(2) values showed significant correlation with serum creatinine (rs = -0.62; p < 0.05) and estimated glomerular filtration rate (eGFR) (rs = 0.64; p < 0.05). No correlation was shown between rSO(2) and diuresis. Increased rSO(2) was also found in patients who experienced DGF. u-NGAL exhibited a trend toward a decrease from baseline in both DD and LRD KTPs, with a strong negative correlation with rSO(2)., Conclusions: rSO(2) assessed by NIRS strongly correlates with common markers of kidney graft function and perfusion, allowing continuous real-time monitoring of blood flow in renal grafts.

Background: Transplant renal artery stenosis (TRAS) is an increasingly recognised cause of post-transplant hypertension., Methods: We retrospectively analysed 216 paediatric renal recipients transplanted between 2001 and 2011 to assess TRAS prevalence and percutaneous transluminal angioplasty (PTA) efficacy. To assess risk factors, we compared children with TRAS with a propensity score-matched cohort of recipients without TRAS., Results: Of the 216 paediatric patients who were transplanted in the study period, 44 were hypertensive (prevalence 20.3 %) and ten presented with TRAS (prevalence 4.6 %, median age at transplantation 14 years, range 6.78-17.36 years). Hypertensive patients without TRAS were prescribed one to two anti-hypertensive agents, whereas patients with TRAS required one to five medications. In the TRAS group, one recipient presented with vascular complications during surgery, and in three patients the graft had vascular abnormalities. TRAS was detected by Doppler ultrasonography (US) performed due to hypertension in nine of the patients with TRAS, but in the tenth case the TRAS was clinically silent and detected by routine Doppler-US screening. TRAS diagnosis was refined using angio-computed tomography or angio-magnetic resonance imaging. All patients underwent PTA without complications. Significant improvement after PTA was observed in the standard deviation scores for blood pressure [3.2 ± 1.4 (pre-PTA) vs. 1.04 ± 0.8 (post-PTA); p = 0.0006) and graft function [creatinine clearance: 69 ± 17.08 (pre-PTA) vs. 80.7 ± 21.5 ml/min/1.73 m(2) (post-PTA); p = 0.006] We observed no significant differences between the two cohorts for cold ischaemia time, recipient/donor weight ratio, delayed graft function, cytomegalovirus infections and acute rejection episodes., Conclusions: Our study reports a low but significant TRAS prevalence among the paediatric patients who were transplanted at our centre in the study period and confirms that PTA is an effective and safe therapeutic option in paediatric renal transplant recipients. Known risk factors do not appear to be related to the development of TRAS.

Mesenchymal hamartoma of the chest wall (MHCW) is a rare neonatal benign tumor with an estimated incidence of 1 in 3 000 among primary bone tumors, and 1 in one million in the general population. Traditionally, the treatment of choice was an "en bloc" resection, but surgery limited to symptomatic cases, is now suggested by most authors due to the numerous cases of spontaneous regressions. We report 2 patients of symptomatic MHCW, characterized by progressive respiratory distress, who underwent surgical treatment with prompt resolution of symptoms. Surgeons and neonatologists should be aware of this rare condition and its possible fatal or nearly-fatal complications., (© Georg Thieme Verlag KG Stuttgart · New York.)

Objective: We aimed to investigate safety and effectiveness of a conservative approach for complex neonatal ovarian cysts and its long term impact on fertility., Study Design: Neonates with congenital complex ovarian cysts were conservatively managed and followed from the perinatal period to adolescence. Statistical analysis included Student's t-test, Mann-Whitney U-test, the Kaplan-Meier method, and the receiver operating characteristic curve., Results: The post-natal progressive dimensional reduction of diagnosed ovarian cyst was statistically significant. The Kaplan-Meier survival curves revealed the probability of persistence of the cyst was up to 5% at the age of 25 months. Long term follow-up revealed both ovaries visible at US in 60% of adolescent patients., Conclusion: Conservative management of asymptomatic complex neonatal ovarian cysts can be safely undertaken. As far as the chances of the ovarian tissue to survive conservative treatment are concerned, the results are not encouraging., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Background/objective: Renal failure remains one of the most significant causes of morbidity in patients with anorectal malformations (ARM). In the modern era, an increasing number of children born with ARM and genito-urinary (GU) anomalies reach adulthood and require continued multidisciplinary care for the rest of their life. The aim of this study is to present our institutional experience in the management of pediatric chronic renal failure related to severe GU anomalies and anorectal malformations., Methods and Results: Three hundred twenty-one patients with ARM have been followed at our institution since 1987. Six patients developed end-stage renal disease (ESRD) and received a kidney transplant at different ages. One patient is currently followed for mild, progressive chronic renal failure. These seven cases are reported along with a broad discussion concerning etiology of renal failure, neonatal surgical management, pediatric dialysis, urologic issues, and kidney transplantation., Conclusion: Complex GU anomalies associated with ARM require a long-term approach by specialized pediatric and adult clinicians to optimize the care of this selected population of patients., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Breast diseases are rare in childhood and adolescence, most lesions being fibroadenomas and papillomas. We report the case of an 11-year old girl with a complex breast lesion with hybrid features of fibroadenoma and intraductal papilloma with an early recurrence. Microscopically, the lesion was composed of dilated ducts showing intraluminal papillary projections with small to broad fibrovascular stalks. The typical leaf-like appearance of fibroadenoma was determined by the presence at the periphery of ducts compressed and distorted by the prominent stromal component. Despite its florid epithelial hyperplasia and mild cytological atypia (more evident in the relapse), immunohistochemical staining for p63 and smooth muscle actin highlighted a continuum outer myoepithelial layer, confirming the non-invasive appearance of the lesion. Two pathogenetic links have been hypothesized: one is based on the morphological continuum between these two entities, which may represent different evolutive stages in the same lesion; the other is based on epithelial/mesenchymal interactions. The possible malignant transformation of such complex lesion is also discussed, along with its differential diagnoses. The relevance of this case lies in its rarity, as well as in the therapeutic strategies related to its biological potential and to the necessity of a conservative treatment, due to the young age of the patient., (Copyright © 2012. Published by Elsevier GmbH.)

Background: The surgical approach to masses located in the cervicothoracic juncton represents a challenge for surgeons. Many techniques have been described with good results., Methods: We analyzed and compared the results obtained in 2 Italian pediatric surgery centers using 2 different techniques in patients with tumors of the thoracic inlet: center 1, using anterior cervical transsternal approach on 7 patients, and center 2, applying "trap-door" technique on 5 patients., Results: Excision was incomplete in 5 patients and complete in 7 patients. Histologic examination revealed 5 patients with neuroblastoma; 3, ganglioneuroblastoma; 1, mixoid liposarcoma; 1, desmoid fibromatosis; 1, Castleman disease; and 1, Schwann cell tumor. The median duration of the procedure was 345 minutes in center 1 and 245 minutes in center 2. The median blood loss was 200 mL in both centers. The median hospital stay was 11 days in center 1 and 9 days in center 2. Globally, 5 patients developed postoperative complications. No significant differences were encountered comparing the main surgical outcome parameters between the 2 approaches., Conclusions: Both techniques resulted in valid options to achieve a safe excision of thoracic inlet masses with a manageable complication rate and acceptable hospital stay. Surgical risk factors should be carefully investigated preoperatively. Postoperative pain control is important to guarantee early recovery., (Copyright © 2012 Elsevier Inc. All rights reserved.)

Mutations in the survival of motor neuron gene (SMN1) are responsible for spinal muscular atrophy, a fatal neuromuscular disorder. Mice carrying a homozygous deletion of Smn exon 7 directed to skeletal muscle (HSA-Cre, Smn(F7/F7) mice) present clinical features of human muscular dystrophies for which new therapeutic approaches are highly warranted. Herein we demonstrate that tail vein transplantation of mouse amniotic fluid stem (AFS) cells enhances the muscle strength and improves the survival rate of the affected animals. Second, after cardiotoxin injury of the Tibialis Anterior, only AFS-transplanted mice efficiently regenerate. Most importantly, secondary transplants of satellite cells (SCs) derived from treated mice show that AFS cells integrate into the muscle stem cell compartment and have long-term muscle regeneration capacity indistinguishable from that of wild-type-derived SC. This is the first study demonstrating the functional and stable integration of AFS cells into the skeletal muscle, highlighting their value as cell source for the treatment of muscular dystrophies., (Copyright © 2012 AlphaMed Press.)

Wandering spleen is a clinical entity which rarely affects children and adolescents. This condition can be asymptomatic or responsible of chronic pain, but it appears as a surgical emergency when an acute twisting occurs. The risk of post-splenectomy sepsis in the pediatric population suggests a conservative approach whenever possible, and also in case of acute torsion, most authors prefer to preserve the spleen and perform a splenopexy. The Authors describe a case of a child with acute splenic torsion, in whom a conservative surgical approach was initially adopted. The conservative option has to be balanced with the risk of prolonged thrombocytopenia, multiple transfusions and a possible second procedure to remove the spleen.

We assessed LUTS at least 12 months after RTx in patients without evidence of lower urinary tract dysfunction (non-urologic) that had been anuric for at least six months before RTx. No bladder recycling was performed before RTx. LUTS were evaluated using a questionnaire. Clinical records were also reviewed. LUTS in anuric patients were compared with those in non-anuric patients. Fourteen anuric patients fulfilled the inclusion criteria. Median age at RTx was 11 (5-21) yr, median duration of anuria before RTx 24 (7-46) months, and median post-RTx follow-up 2.7 (1.9-10.2) yr. Daytime symptoms were exceptional. Nocturia was the most common symptom (10 patients). Only one patient reported symptoms to affect her quality of life. One patient experienced a febrile UTI and none graft failure. LUTS (nocturia) proved unrelated to duration of anuria, length of follow-up, and presence of (nocturnal) polyuria. LUTS were not statistically different in patients anuric and non-anuric before RTx. Non-urologic patients suffer from long-term storage symptoms, particularly nocturia. LUTS, however, do not seem to increase the risks of urinary infections or graft failure and appear to occur irrespective of the presence of anuria before RTx. Bladder recycling before RTx seems unnecessary., (© 2010 John Wiley & Sons A/S.)

Background: In pediatric kidney transplant recipients, viral infections occur soon after transplant and may be transmitted from the graft., Methods: This study of 75 pediatric kidney transplants investigated whether genome sequences of parvovirus B19, Epstein-Barr virus (EBV), human cytomegalovirus (HCMV), and BK polyomavirus (BKV) could be detected in kidney graft samples (graft biopsy samples and preservation and washing solutions) collected before implantation and whether their presence was a risk factor for infections in the recipient., Results: B19 DNA was detected in approximately 30% of graft biopsy samples, preservation solutions, and washing solutions; EBV DNA was detected in approximately 20% of preservation and washing solutions but rarely in biopsy samples; and HCMV DNA and BKV DNA were rarely detected in graft biopsy samples. Seronegative recipients of B19 DNA-positive and EBV DNA-positive grafts had a significantly higher risk of infection during the early posttransplant period than did recipients of negative grafts. In particular, none of the B19-seronegative recipients of B19 DNA-negative grafts experienced infection soon after transplant, whereas most recipients of B19 DNA-positive grafts experienced infection within the first month after transplant., Conclusions: Molecular testing of donor grafts for viruses that infect circulating and resident cells in the graft-such as B19 in the kidney-could be useful (in association with donor/recipient serostatus) for identifying recipients at high risk for posttransplant infections.

In pediatric kidney transplantation, the effect of inadequate nephron dosing on graft survival remains undetermined. The aim of this study was to assess the use of D/R BSA, as a reliable indicator of adequate nephron dosing, and eventually a tool to optimize pediatric graft allocation. Following Institutional Review Board approval, we reviewed deceased donor pediatric kidney transplantation (N = 156). We divided patients into three groups, based on D/R BSA: A < or =0.8; B 0.81-1.19; C > or =1.2. Five-yr graft survival rates in the groups were: A 82.0%; B 94.9%; C 97.1% (p = 0.01). Group C had the lowest rate of acute rejection, suggesting a protective effect of increased D/R BSA (group A = 35.7%, group B = 38.9%, group C = 18.8%; p = 0.029). The logistic regression analysis showed that decreased D/R BSA ratio is a risk factor for loss of graft function, at one and five yr [i.e., group A OR 6 (95% CI 1.14-39.30, p = 0.015) and OR 4.49 (95% CI 1.46-13.79, p = 0.009), respectively]. We conclude that for pediatric recipients, D/R BSA is a valuable adjunct when determining long-term graft survival. Its utility may avoid an alloimmune-independent risk factor, increasing the long-term protective value of a good matching policy.

Mutations in the INSL3 and RXFP2 genes have been associated with human cryptorchidism but with contrasting data. We analyzed the frequency of mutations in these genes in 600 newborns with cryptorchidism (396 unilateral and 204 bilateral) and 300 noncryptorchid subjects. We found five RXFP2 mutations in five bilateral cryptorchid boys, one INSL3 mutation in a unilateral cryptorchid boy, and one INSL3 mutation in a boy with unilateral cryptorchidism at birth and spontaneous descent during the first month of life. Overall, the frequency of INSL3 and RXFP2 mutations was therefore 7/600 at birth (1.2%) and 7/303 (2.3%) in persistent cryptorchid boys, with a higher prevalence of bilateral forms (5/120, 4.2%). No mutations were found in controls. This study confirmed the association between INSL3 and RXFP2 gene mutations and human cryptorchidism.

Background: The relevance of viral infections in the development of allograft lesions is still unclear, although some viruses have been implicated. The present study investigated systemic and intrarenal viral infections in kidney transplant recipients and their association with the risk of acute rejection and chronic allograft injuries that are predictive of long-term dysfunction., Methods: The presence of DNA sequences of human herpesviruses, polyomaviruses, and parvovirus B19 was analyzed in renal allograft biopsy specimens obtained at baseline, after acute renal dysfunction, and during follow-up evaluation in 69 transplant recipients who were children or young adults. Results were correlated with clinical data, viral DNAemia, and results of renal function tests and allograft histology analyzed at the same time points., Results: Overall, viral DNA was detectable in 46% of baseline and 70% of follow-up biopsy specimens of kidney allografts, where it generally persisted. The most frequently detected viruses were B19 and human herpesvirus 6, already present in donor kidneys, and BK virus and Epstein-Barr virus, usually involving the allograft during follow-up. Among viruses, only the intrarenal persistence of B19 DNA and B19 DNAemia was associated with the development of chronic allograft injury, whereas human cytomegalovirus DNAemia was a risk factor for acute rejection., Conclusions: Parvovirus B19 seems to target the kidney electively. Its intrarenal persistence is associated with chronic kidney allograft injury.

Context: Cryptorchidism is the most frequent congenital birth defect in male children and represents an important risk factor for infertility and testicular cancer. Major regulators of testicular descent are the hormones insulin-like factor 3 (INSL3) and testosterone, and disruption of these pathways might cause cryptorchidism., Objective: To determine the frequency of genetic alterations in cryptorchidism., Design and Setting: Case-control study in 2 departments of pediatric surgery in Italy between January 2003 and March 2005., Patients: Six hundred male infants with cryptorchidism. Boys were followed up for 2 to 3 years (through January 2008) and orchidopexy was performed in those who were persistently cryptorchid. We analyzed 300 noncryptorchid male children aged 1 to 4 years as controls., Main Outcome Measures: Karyotype anomalies and INSL3, INSL3 receptor, and androgen receptor gene mutations., Results: The frequency of genetic alterations in boys with cryptorchidism was low (17/600 [2.8%; 95% confidence interval {CI}, 1.7%-4.5%]) and was significantly higher in participants with persistent cryptorchidism (16/303 [5.3%; 95% CI, 3.0%-8.4%]; P = .001) and those with bilateral cryptorchidism (10/120 [8.3%; 95% CI, 4.1%-14.8%]; P = .001) than in controls (1/300 [0.3%; 95% CI, 0.1%-0.8%]). Boys with persistent cryptorchidism had a 17-fold greater odds of having a genetic alteration (odds ratio, 16.7; 95% CI, 2.2-126.5). The most common genetic findings in those with cryptorchidism were 8 cases of Klinefelter syndrome and 5 cases of mutations in the INSL3 receptor gene. Genetic alterations were not found in boys with low birth weight or low gestational age, who had frequent spontaneous descent of the testes., Conclusion: In a small percentage of the study population, there was a statistically significant association between bilateral and persistent cryptorchidism and genetic alterations, including Klinefelter syndrome and INSL3 receptor gene mutations.

In the last few years some studies have shown the possibility of deriving progenitors with various potential from the amniotic fluid. Amniocentesis is a widely accepted method for prenatal diagnosis; it is associated with low risk both for the mother and the fetus and overcomes the ethical problems commonly associated to other sources. Recently we have described that amniotic fluid stem (AFS) cells, for their ability to differentiate to various lineages, could represent a good candidate for therapeutic applications. For gene therapy purposes human AFS (hAFS) cells should be genetically modified with a therapeutic gene and delivered systematically or injected directly into the tissue of interest. The aim of this study was to investigate the feasibility of transducing hAFS cells with adenoviral vectors and to determine whether transduced stem cells retain the ability to differentiate into different lineages. Herein, we showed that hAFS cells could be efficiently infected by first generation adenovirus vectors. In addition, we demonstrated that infection and expression of two different marker genes, LacZ and EGFP, have no effect on cells phenotype and differentiation potential. In particular, on undifferentiated status, hAFS cells continued to express both the transgenes and stemness cell markers OCT4 and SSEA4. When cultured under mesenchymal conditions, infected cells could still differentiate into osteocytes and adipocytes expressing lineage specific genes. These preliminary findings suggest that adenovirus may be useful to engineer populations of pluripotent stem cells, which may be used in a wide range of gene therapy treatments.

Animal bite lesions in the pediatric patient are mainly accounted for by dog bites in 80% to 90% of the cases. They often present a favorable prognosis but serious lesions do account for 5% to 20% of the total incidence. We will present three particular clinical cases which required urgent surgical treatment as well as a review of the current literature to include both medical and surgical treatment methods for this kind of lesion.

Ciliated hepatic foregut cyst is the only ciliated cystic lesion known to occur in the liver. It is an extremely rare, benign and solitary cyst that probably arises from remnants of the embryonic foregut in the liver. We report a 16-month-old girl who underwent surgical excision of a hepatic cyst discovered during antenatal ultrasonography. Surgical exploration and excision were performed because of the uncertain aetiology of the cyst and because on postnatal follow-up US the size of the mass had increased causing extrinsic biliary obstruction. Pathology revealed a ciliated hepatic foregut cyst. This is the fourth child affected by this lesion reported in the literature, the second undergoing surgical excision, and the second with antenatal diagnosis.