Transannular patching is a valid alternative for tetralogy of Fallot and complete atrioventricular septal defect repair

Objective: We report our experience with repair of tetralogy of Fallot associated with complete atrioventricular septal defect, addressing in particular the need for a pulmonary valve in the right ventricular outflow tract. Methods: Between 1992 and 2006, 33 children with tetralogy of Fallot and complete atrioventricular septal defect were admitted; 26 had Down’s syndrome (79%). Thirty-two children had complete repair (18 primary, 14 staged); of the 15 who received initial palliation, 1 died before complete repair. Right ventricular outflow tract obstruction was relieved by transannular patch in 14 cases (42%), infundibular patch with preservation of the pulmonary valve in 7 (21%), and right ventricle–to–pulmonary artery conduit in 11 (33%). Results: There were no hospital deaths. Actuarial survival was 96% 3.9% at 5 years and 85.9 1.1% at 10 years. Multivariate analysis showed that type of relief of right ventricular outflow tract obstruction did not influence survival (P ¼ .16), nor did the choice to use a valved conduit (P ¼ .82). Primary correction (P ¼ .05) and lower weight at repair (P ¼ .05) were associated with higher probability of survival. Mean follow-up was 69.3 5.9 months (range 0.2–282 months). There were 2 late deaths. Overall freedom from reoperation was 69% at 5 years and 38%at 10 years. Right ventricular outflow tract reconstruction without use of a valved conduit allowed a significantly higher freedom from reinterventions (P<.05). Conclusions: Tetralogy of Fallot associated with complete atrioventricular septal defect can be corrected at low risk with favorable intermediate survival. Use of right ventricle–to–pulmonary artery conduit can be avoided in two thirds of patients with no impact on survival, possibly improving overall freedom from reintervention

Transannular patching is a valid alternative for tetralogy of Fallot and complete atrioventricular septal defect repair

Objective: We report our experience with repair of tetralogy of Fallot associated with complete atrioventricular septal defect, addressing in particular the need for a pulmonary valve in the right ventricular outflow tract. Methods: Between 1992 and 2006, 33 children with tetralogy of Fallot and complete atrioventricular septal defect were admitted; 26 had Down’s syndrome (79%). Thirty-two children had complete repair (18 primary, 14 staged); of the 15 who received initial palliation, 1 died before complete repair. Right ventricular outflow tract obstruction was relieved by transannular patch in 14 cases (42%), infundibular patch with preservation of the pulmonary valve in 7 (21%), and right ventricle–to–pulmonary artery conduit in 11 (33%). Results: There were no hospital deaths. Actuarial survival was 96% 3.9% at 5 years and 85.9 1.1% at 10 years. Multivariate analysis showed that type of relief of right ventricular outflow tract obstruction did not influence survival (P ¼ .16), nor did the choice to use a valved conduit (P ¼ .82). Primary correction (P ¼ .05) and lower weight at repair (P ¼ .05) were associated with higher probability of survival. Mean follow-up was 69.3 5.9 months (range 0.2–282 months). There were 2 late deaths. Overall freedom from reoperation was 69% at 5 years and 38%at 10 years. Right ventricular outflow tract reconstruction without use of a valved conduit allowed a significantly higher freedom from reinterventions (P<.05). Conclusions: Tetralogy of Fallot associated with complete atrioventricular septal defect can be corrected at low risk with favorable intermediate survival. Use of right ventricle–to–pulmonary artery conduit can be avoided in two thirds of patients with no impact on survival, possibly improving overall freedom from reintervention

Isolated Fetal Ascites Secondary to Persistent Urogenital Sinus

Objective. To present a case of isolated ascites secondary due to urogenital abnormalities (urogenital sinus) without any other prenatal ultrasound marker. Method. A 36-year-old woman with prenatal isolated ascites delivered a female baby, weighing 2.285 g; ascites was drained at birth and the baby underwent several episodes of urinary retention prior to undergoing X-ray investigations. Results. A voiding cystourethrogram revealed a short urogenital sinus: a vesicostomy was performed. A vaginoscopy revealed double vagina with a large posterior vagina. A posterior sagittal anorectal pull-through with genitoplasty was performed at 2 years old with 1-year follow-up. Conclusions. Though rare, a urogenital abnormality is to be suspected in fetal ascites cases with negative viral tests and no cardiac anomalies. The most common ultrasound marker of such abnormalities (fluid filled cavity) may be missing because of complete drainage of urine through the tubes into peritoneum

Identification and Characterization of BRCA1 and BRCA2 Founder Mutations

A large number of cancer predisposing BRCA1/BRCA2 mutations have been reported, with a wide variety among populations. In some restricted groups, specific germline mutations in these tumor suppressor genes have been found with high predominance, due to a founder effect. We focused our review on the Italian founder mutations. The first Italian BRCA1 founder mutation, 5083del19, was found in Calabria: the presence of common allele in all carriers of this mutation (also in families with Calabrian origin living in other parts of Italy) confirmed its founder effect. The same BRCA1 mutation was identified in the Sicilian population, but only the haplotype analysis can reveal the common ancestor of these groups. Another BRCA1 founder mutation, 4843delC, was found in Sicily. Four distinct BRCA1 mutations are attributable to families original from Tuscany: 3348delAG, 3285delA, 1499insA and 5183delTGT; the latter has been shown to be a founder mutation from North-Eastern Italy. The first BRCA2 mutation was identified in Sardinia, 8765delAG, a mutation already described as a founder mutation in Jewish-Yemenite families and also in French-Canadian population but with independent origins of carriers in these three populations. BRCA2 3951del3 and BRCA1 917delTT have been described as founder mutations in Middle Sardinia and in South and Middle Sardinia, respectively. Studies regarding prevalence and penetrance of founder mutations can allow to quantify the degree of homogeneity within a population and can surely help the geneticist and oncologist to simplify their choices in the genetic testing on high-risk families, on the basis of their ethnical origin

Metastates in mean-field models with random external fields generated by Markov chains

We extend the construction by Kuelske and Iacobelli of metastates in finite-state mean-field models in independent disorder to situations where the local disorder terms are are a sample of an external ergodic Markov chain in equilibrium. We show that for non-degenerate Markov chains, the structure of the theorems is analogous to the case of i.i.d. variables when the limiting weights in the metastate are expressed with the aid of a CLT for the occupation time measure of the chain. As a new phenomenon we also show in a Potts example that, for a degenerate non-reversible chain this CLT approximation is not enough and the metastate can have less symmetry than the symmetry of the interaction and a Gaussian approximation of disorder fluctuations would suggest.Comment: 20 pages, 2 figure

Immunotherapy in endometrial cancer: new scenarios on the horizon

This extensive review summarizes clinical evidence on immunotherapy and targeted therapy currently available for endometrial cancer (EC) and reports the results of the clinical trials and ongoing studies. The research was carried out collecting preclinical and clinical findings using keywords such as immune environment, tumor infiltrating lymphocytes, programmed death-1 (PD-1)/programmed death-ligand 1 (PD-L1) expression, immune checkpoint inhibitors, anti-PD-1/PD-L1 antibodies and others’ on PubMed. Finally, we looked for the ongoing immunotherapy trials on ClinicalTrials.gov. EC is the fourth most common malignancy in women in developed countries. Despite medical and surgical treatments, survival has not improved in the last decade and death rates have increased for uterine cancer in women. Therefore, identification of clinically significant prognostic risk factors and formulation of new rational therapeutic regimens have great significance for enhancing the survival rate and improving the outcome in patients with advanced or metastatic disease. The identification of genetic alterations, including somatic mutations and microsatellite instability, and the definition of intracellular signaling pathways alterations that have a major role in in tumorigenesis is leading to the development of new therapeutic options for immunotherapy and targeted therapy

The nature of the low-frequency emission of M51: First observations of a nearby galaxy with LOFAR

The grand-design spiral galaxy M51 was observed with the LOFAR High Frequency Antennas (HBA) and imaged in total intensity and polarisation. This observation covered the frequencies between 115 MHz and 175 MHz. We produced an image of total emission of M51 at the mean frequency of 151 MHz with 20 arcsec resolution and 0.3 mJy rms noise, which is the most sensitive image of a galaxy at frequencies below 300 MHz so far. The integrated spectrum of total radio emission is described well by a power law, while flat spectral indices in the central region indicate thermal absorption. We observe that the disk extends out to 16 kpc and see a break in the radial profile near the optical radius of the disk. Our main results, the scale lengths of the inner and outer disks at 151 MHz and 1.4 GHz, arm--interarm contrast, and the break scales of the radio--far-infrared correlations, can be explained consistently by CRE diffusion, leading to a longer propagation length of CRE of lower energy. The distribution of CRE sources drops sharply at about 10 kpc radius, where the star formation rate also decreases sharply. We find evidence that thermal absorption is primarily caused by HII regions. The non-detection of polarisation from M51 at 151 MHz is consistent with the estimates of Faraday depolarisation. Future searches for polarised emission in this frequency range should concentrate on regions with low star formation rates.Comment: 20 pages, 18 figures, accepted for publication in A&