Trisomy 14 is incompatible with live, but there are several patients reported with mosaic trisomy 14. We aimed to study the pattern of X inactivation and its effect on a translocated autosome and to find out an explanation of the involvement of chromosome 14 in 2 different structural chromosomal abnormalities. We report on a girl with frontal bossing, hypertelorism, low-set ears, micrognathia, cleft palate, congenital heart disease, and abnormal skin pigmentations. The patient displayed iris, choroidal,...
8h
In this report, we present a new case of mosaic trisomy 13 with prolonged survival, firstly detected by array-CGH analysis which was carried out because of moderate intellectual disability with postaxial hexadactyly, dermatologic features, ventricular septal defect, bicuspid aortic valve, and aortic dystrophy in a 19-year-old male patient. In a subset of 15% of the cells, the patient carried a derivative chromosome 10 generated by a nonreciprocal (10;13) translocation inherited from his healthy mother...
14h
Summary A systematic review and meta‐analysis was conducted of studies that address the association of bile acid (BA) with obesity and of studies on the effects of treatment in patients with obesity on BA metabolism, assessed from systemic BA, fibroblast growth factor 19 (FGF19), 7α‐hydroxy‐4‐cholesten‐3‐one (C4) level, and faecal BA. We searched PubMed, Embase, and the Cochrane Library from inception to 1 August 2019 using the keywords obesity, obese, body mass index, and overweight with bile...
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Abstract Background We report the outcomes of patients with pineoblastoma and trilateral retinoblastoma syndrome enrolled on the Head Start (HS) I‐III trials. Methods Twenty‐three children were enrolled prospectively between 1991 and 2009. Treatment included maximal surgical resection followed by five cycles of intensive chemotherapy and consolidation with marrow‐ablative chemotherapy and autologous hematopoietic cell rescue (HDCx/AuHCR). Irradiation following consolidation was reserved...
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Abstract Objective Pediatric oncology patients admitted to the pediatric intensive care unit (PICU) are at high risk of mortality. This study aims to describe the epidemiology of and the risk factors for mortality in these patients. Study design This is a retrospective cohort study including all consecutive PICU oncology admissions from 2011 to 2017. Demographic and clinical risk factors between survivors and nonsurvivors were compared. Both univariate and multivariate Cox proportional...
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Abstract Coronary artery dissection is a well‐known complication of percutaneous coronary interventions. In this setting, coronary artery dissection is caused by mechanical injury of the arterial wall. However, dissection may also occur spontaneously. In both situations, an intimal tear or dissection allows blood entering and separating the layers of the coronary arterial wall. Despite percutaneous approach is still the preferred and the quickest way to restore coronary flow, it remains challenging....
8h
Abstract Objectives The aim of the present analysis is to evaluate the clinical impact of chronic total occlusions (CTOs) recanalization in patients with left ventricular (LV) systolic dysfunction. Background According to contemporary knowledge, patient selection for percutaneous CTO revascularization is not yet standardized. In particular, data on outcomes in patients with LV systolic dysfunction undergoing percutaneous coronary intervention (PCI) for CTO are scarce. Methods...
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Five‐year follow‐up of patients who underwent everolimus‐eluting bioresorbable scaffold implantation
Abstract Objectives The aim of this study was to evaluate very long‐term results after unrestricted everolimus‐eluting bioresorbable scaffolds (BRS) implantation. Background Previous randomized studies mainly included selected patients differing from those seen during daily routine and long‐term data from all‐comers registries are sparse. Methods Consecutive patients undergoing BRS implantation were included in this observational, single center study. Clinical follow‐up...
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