An isolated anterior mitral leaflet cleft: a case report

<p>Abstract</p> <p>Introduction</p> <p>The anterior mitral leaflet cleft is an unusual congenital lesion most often encountered in association with other congenital heart defects. The isolated anterior leaflet cleft is quite a rare anomaly and is usually cause of mitral valve regurgitation. The importance of the lesion is that it is often correctable. When feasible, cleft suture and, eventually, annuloplasty are preferable to valve replacement. Echocardiography is the first choice technique in the evaluation of mitral valve disease, providing useful information about valve anatomy and hemodynamic parameters.</p> <p>Case presentation</p> <p>We present a case of an isolated anterior mitral leaflet cleft producing moderate-severe mitral regurgitation correctly identified by echocardiography and successfully surgically corrected.</p> <p>Conclusion</p> <p>Isolated cleft is a rare aberration, that has to be known in order to be diagnosed. Transthoracic and transesophageal echocardiography is the most useful non invasive technique for cleft diagnosis and to indicate the right surgical correction.</p

Cerebral palsy and epilepsy in children. clinical perspectives on a common comorbidity

Cerebral palsy (CP) is a frequent cause of childhood disability often associated with a complex group of disorders, including epilepsy, which is reported to impact approximately 40% of affected individuals. This retrospective study involved a group of children affected by CP, some of whom also had comorbid epilepsy. The aim of this study was to report our experience of analyzing, in particular, (a) some of the clinical aspects of the different type of CP, and (b) the relationship between the clinical data of children affected by CP plus epilepsy and each type of CP

St. Jude Trifecta Versus Carpentier-Edwards Perimount Magna valves for the treatment of aortic stenosis: comparison of early Doppler-Echocardiography and hemodynamic performance

Objective. Aim of this study was to compare the hemodynamic profiles of 2 aortic valve bioprostheses: the Carpentier Edwards Perimount Magna (CEPM) valve and the Trifecta valve. Methods. 100 patients who underwent AVR for severe symptomatic AS between September 2011 and October 2012 were analyzed by means of standard trans-thoracic Doppler-echocardiography. Results. Mean and peak gradients were significantly lower for the 21 mm Trifecta vs CEPM (11 ± 4 vs 15 ± 4 mmHg, and 20 ± 6 vs 26 ± 7 mmHg, respectively; all p < 0.05) and the 23 mm Trifecta vs CEPM (8 ± 2 vs 14 ± 4 mmHg, and 17 ± 6 vs 25 ± 9 mmHg; all p < 0.05). Effective orifice area tended to be slightly higher for the Trifecta valve. Conclusion. The new bioprosthetic valve Trifecta has an excellent hemodynamic profile, and lower trans-prosthesic gradients when compared to CEPM valve

Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies

Objective: We investigated the contribution to sporadic focal epilepsies (FE) of ultrarare variants in genes coding for the components of complexes regulating mechanistic Target Of Rapamycin (mTOR)complex 1 (mTORC1). Methods: We collected genetic data of 121 Italian isolated FE cases and 512 controls by Whole Exome Sequencing (WES) and single-molecule Molecular Inversion Probes (smMIPs) targeting 10 genes of the GATOR1, GATOR2, and TSC complexes. We collapsed “qualifying” variants (ultrarare and predicted to be deleterious or loss of function) across the examined genes and sought to identify their enrichment in cases compared to controls. Results: We found eight qualifying variants in cases and nine in controls, demonstrating enrichment in FE patients (P = 0.006; exact unconditional test, one-tailed). Pathogenic variants were identified in DEPDC5 and TSC2, both major genes for Mendelian FE syndromes. Interpretation: Our findings support the contribution of ultrarare variants in genes in the mTOR pathway complexes GATOR and TSC to the risk of sporadic FE and a shared genetic basis between rare and common epilepsies. The identification of a monogenic etiology in isolated cases, most typically encountered in clinical practice, may offer to a broader community of patients the perspective of precision therapies directed by the underlying genetic cause

AML1/ETO Oncoprotein Is Directed to AML1 Binding Regions and Co-Localizes with AML1 and HEB on Its Targets

A reciprocal translocation involving chromosomes 8 and 21 generates the AML1/ETO oncogenic transcription factor that initiates acute myeloid leukemia by recruiting co-repressor complexes to DNA. AML1/ETO interferes with the function of its wild-type counterpart, AML1, by directly targeting AML1 binding sites. However, transcriptional regulation determined by AML1/ETO probably relies on a more complex network, since the fusion protein has been shown to interact with a number of other transcription factors, in particular E-proteins, and may therefore target other sites on DNA. Genome-wide chromatin immunoprecipitation and expression profiling were exploited to identify AML1/ETO-dependent transcriptional regulation. AML1/ETO was found to co-localize with AML1, demonstrating that the fusion protein follows the binding pattern of the wild-type protein but does not function primarily by displacing it. The DNA binding profile of the E-protein HEB was grossly rearranged upon expression of AML1/ETO, and the fusion protein was found to co-localize with both AML1 and HEB on many of its regulated targets. Furthermore, the level of HEB protein was increased in both primary cells and cell lines expressing AML1/ETO. Our results suggest a major role for the functional interaction of AML1/ETO with AML1 and HEB in transcriptional regulation determined by the fusion protein

Electronic cigarette use as an aid to quit smoking in the representative Italian population PASSI survey

This study explored electronic cigarette (e-cigarette) use as an aid to quit smoking and compared abstinence rates for different quitting methods in a representative sample of the Italian population. In the 2014–2015 PASSI survey, the ongoing Italian behavioural risk factor surveillance system, 6112 adults who smoked and made at least one quit attempt in the previous 12 months, were categorized into three groups according to the method used in their most recent quit attempt: e-cigarette only, no aid, other quitting methods (medications; programmes delivered in smoking cessation services; other unspecified methods). The primary outcome was self-reported abstinence for a period ≥ 6 months, adjusted for potential confounders. Eleven percent used e-cigarettes only, 86% no aid, 3% other quitting methods. Smoking abstinence was reported among 9% of those using no aid; 8% of e-cigarette users; 15% of those using other methods. No significant differences in abstinence were observed for e-cigarette users compared with those reporting no aid (adjusted Prevalence Ratio [aPR] = 0.81; 95%Confidence Interval (CI) = 0.58–1.14). Changing the reference group to e-cigarette users, those using other quitting methods were significantly more likely to report abstinence than e-cigarette users (aPR = 1.76; 95%CI = 1.07–2.88). One out of ten smokers who attempted to quit in 2014–2015 in Italy used e-cigarettes. E-cigarettes users were as likely to report abstinence as those using no aid, but were less likely to report abstinence than users of established quitting methods. Further studies are needed to understand the relationship between e-cigarette types used to quit and abstinence rates

Peri-operative red blood cell transfusion in neonates and infants: NEonate and Children audiT of Anaesthesia pRactice IN Europe: A prospective European multicentre observational study

BACKGROUND: Little is known about current clinical practice concerning peri-operative red blood cell transfusion in neonates and small infants. Guidelines suggest transfusions based on haemoglobin thresholds ranging from 8.5 to 12 g dl-1, distinguishing between children from birth to day 7 (week 1), from day 8 to day 14 (week 2) or from day 15 (≥week 3) onwards. OBJECTIVE: To observe peri-operative red blood cell transfusion practice according to guidelines in relation to patient outcome. DESIGN: A multicentre observational study. SETTING: The NEonate-Children sTudy of Anaesthesia pRactice IN Europe (NECTARINE) trial recruited patients up to 60 weeks' postmenstrual age undergoing anaesthesia for surgical or diagnostic procedures from 165 centres in 31 European countries between March 2016 and January 2017. PATIENTS: The data included 5609 patients undergoing 6542 procedures. Inclusion criteria was a peri-operative red blood cell transfusion. MAIN OUTCOME MEASURES: The primary endpoint was the haemoglobin level triggering a transfusion for neonates in week 1, week 2 and week 3. Secondary endpoints were transfusion volumes, 'delta haemoglobin' (preprocedure - transfusion-triggering) and 30-day and 90-day morbidity and mortality. RESULTS: Peri-operative red blood cell transfusions were recorded during 447 procedures (6.9%). The median haemoglobin levels triggering a transfusion were 9.6 [IQR 8.7 to 10.9] g dl-1 for neonates in week 1, 9.6 [7.7 to 10.4] g dl-1 in week 2 and 8.0 [7.3 to 9.0] g dl-1 in week 3. The median transfusion volume was 17.1 [11.1 to 26.4] ml kg-1 with a median delta haemoglobin of 1.8 [0.0 to 3.6] g dl-1. Thirty-day morbidity was 47.8% with an overall mortality of 11.3%. CONCLUSIONS: Results indicate lower transfusion-triggering haemoglobin thresholds in clinical practice than suggested by current guidelines. The high morbidity and mortality of this NECTARINE sub-cohort calls for investigative action and evidence-based guidelines addressing peri-operative red blood cell transfusions strategies. TRIAL REGISTRATION: ClinicalTrials.gov, identifier: NCT02350348