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Sammichele di Bari, Italy

Mattioli G.,University of Genoa | Buffa P.,University of Genoa | Torre M.,University of Genoa | Pini-Prato A.,University of Genoa | And 8 more authors.
Journal of Laparoendoscopic and Advanced Surgical Techniques | Year: 2010

Objectives: This report is aimed at describing our preliminary experience with the preperitoneoscopic approach to the bladder neck for rectus fascial sling suspension in neurogenic bladder. Materials and Methods: A 13-year-old boy with spina bifida was admitted to our institution to treat bladder incontinence. A bladder neck suspension and bladder augmentation was planned. The preperitoneal space was progressively gained by blunt dissection under direct vision (laparoscopy with a single left subcostal trocar), and a total of three preperitoneal ports were inserted. Dissection of the bladder proved to be relatively easy, and the retropubic space as well as the deep pelvis were safely exposed. Owing to the excellent endoscopic visualization, the bladder was dissected downward from the rectum. Once complete mobilization of the bladder neck was achieved, an umbilical tape was passed around the proximal urethra to create an adequate passage for the fascial sling. Results: The preperitoneoscopic procedure lasted 2 hours. No complications occurred. A good daytime dry period was achieved at the 4-month follow-up. Discussion: Direct visualization of the bladder neck and minimal dissection to the deep pelvis are the key points of this approach. Provided certain technical details are considered, the minimally invasive preperitoneal access is a valuable alternative to the open approach for the rectus fascial sling procedure, particularly when dealing with male patients. Technical advances will, presumably, lead to a complete minimally invasive treatment of urinary incontinence in male patients with spina bifida. © 2010, Mary Ann Liebert, Inc. Source

Trunzo R.,University of Foggia | Santacroce R.,University of Foggia | D'Andrea G.,University of Foggia | Longo V.,University of Foggia | And 6 more authors.
Clinical Biochemistry | Year: 2013

Background: Mutations in the gene encoding phenylalanine hydroxylase (PAH, EC are associated with various degrees of hyperphenylalaninemia (HPA), including classical phenylketonuria (PKU). Objective: The aim of the study was to determine the mutations responsible for mild forms of HPA and to relate different clinical phenotypes of HPA patients to their PAH genotypes in order to better predict the clinical phenotype and implement optimal dietary therapy and prognosis in newborns with the disease. Methods: Phenylalanine hydroxylase (PAH) gene mutations have been analyzed by direct DNA sequencing in 30 HPA patients (Phe levels ranging from 2 to 6. mg/dL) from Southern Italy who were identified in a neonatal screening program and a genotype-phenotype correlation was performed. Results: PAH gene mutation was identified in 39 out of 60 alleles with a mutation detection rate of 65%. Eighteen mutations, 2 undescribed, were observed (13 missense mutations, 1 deletion, 4 splice site mutations). Using the "in vitro" predicted residual activity, a good genotype-phenotype correlation was obtained also in a new mild HPA case, a PAH compound heterozygote, previously undetected. Conclusion: A marked genetic heterogeneity was found in HPA patients from Southern Italy and a good genotype-phenotype correlation was obtained. Identification of PAH gene mutations responsible for PAH deficiency will therefore be useful in the prediction of biochemical and clinical phenotypes in HPA patients. © 2013. Source

Lombardi M.,Ospedale Pediatrico Giovanni XXIII
Journal of Cardiovascular Medicine | Year: 2014

The usual surgical practice after repair of a Total Anomalous Pulmonary Venous Connection (TAPVC) is to ligate the vertical vein (VV). Many surgeons find it expedient to leave the VV unligated to reduce pulmonary arterial pressure, decrease perioperative pulmonary hypertensive crisis, provide better hemodynamics postoperatively (1), and enable the adaptation of cardiac chambers to a new workload. Afterwards, the unligated VV may cause significant left-to-right shunt, likewise an atrial septal defect, mandating later surgical ligation or device closure (2). This report details transcatheter occlusion of a patent VV using a device Amplatzer Vascular Plug II, after TAPVC repair in early infancy. The transcatheter occlusion of an unligated VV after repair of supracardiac TAPVC represents an effective alternative to surgical redo. The device Amplatzer Vascular Plug II achieves great results. © 2014 Italian Federation of Cardiology. All rights reserved. Source

Trunzo R.,University of Foggia | Santacroce R.,University of Foggia | D'Andrea G.,University of Foggia | Longo V.,University of Foggia | And 7 more authors.
Clinica Chimica Acta | Year: 2015

We investigated the mutation spectrum of the phenylalanine hydroxylase gene (PAH) in a cohort of patients from 33 Italian PKU families. Mutational screening of the known coding region, including conventional intron splice sites, was performed by direct sequencing of the patients' genomic DNA.Thirty-three different disease causing mutations were identified in our patient group, including 19 missense, 6 splicing, 3 nonsense, 5 deletions, with a detection rate of 100%. The most prevalent mutation was the IVS10-11G>A, accounting for 12.1% of PKU alleles studied. Other frequent mutations were: p.R261Q (9.1%), p.P281L (7.6%), and p.R408W (6.1%). We also identified one novel missense mutation, p.H290Q. A spectrum of 31 different genotypes was observed and a genotype based predictions of BH4-responsiveness were assessed. Among all genotypes, 13 were predicted to be BH4-responsive represented by thirteen PKU families. In addition, genotype-phenotype correlations were performed. This study reveals the importance of a full genotyping of PKU patients and the prediction of BH4-responsiveness, not only because of the definitive diagnosis and prediction of the optimal diet, but also to point out those patients that could benefit from new therapeutic approach. They may potentially benefit from BH4 therapy which, combined with a less strict diet, or eventually in special cases as monotherapy, may contribute to reduce nutritional deficiencies and minimize neurological and psychological dysfunctions. © 2015 Elsevier B.V.. Source

Barone A.,Pediatria e Oncoematologia | Lucarelli A.,Ospedale Pediatrico Giovanni XXIII | Onofrillo D.,UOS di Oncolematologia Pediatrica | Verzegnassi F.,SOC di Oncoematologia Pediatrica | And 26 more authors.
Medico e Bambino | Year: 2014

Acquired Aplastic Anaemia (AA) is a rare heterogeneous disease characterized by pancytopoenia and hypoplastic bone marrow. The incidence is 2-3 millions per year (all age groups) in Europe, but is higher in East Asia. The pathogenesis of AA is complex and involves haematopoietic stem cell/progenitor cell deficiencies and autoimmune mechanism. Survival in severe aplastic anaemia (SAA) has markedly improved in the past 2 decades because of advances in haematopoietic stem cell transplantation, immunosuppressive and biologic drugs, and supportive care. In SAA haematopoietic stem cell transplant (HSCT) from a matched sibling donor (MSD) is the treatment of choice. If a MSD is not available, the options include immunosuppressive therapy (IST) or unrelated donor HSCT. The objective of this guideline is to provide healthcare professionals with clear guidance on the diagnosis and management of paediatric patients with AA. A preliminary, evidence-based document issued by a group of paediatric haematologists was discussed, modified and approved during a series of "Consensus Conferences" according to procedures previously validated by the AIEOP Board. The guidelines highlight the importance of referring paediatric patients with AA to paediatric centres with long experience in diagnosis, differential diagnosis, management, supportive care and follow-up of AA; haematopoietic stem cell transplantation as first line therapy if an MSD is identified; the use of first-line IST containing horse anti-thymocyte globulin and cyclosporine A (CsA) if an MSD is not identified. Source

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