Search results for "Infant"
showing 10 items of 3339 documents
The Fontan-Operation: From Intra- to Extracardiac Procedure
2003
Purpose For treatment of univentricular heart, the Fontan operation has been established as the definitive palliation. The current controversy is mainly based on the high incidence of arrhythmias after an intra-atrial lateral tunnel Fontan operation. Methods From January 1995 until April 2002. 46 children underwent a Fontan-type operation with or without a small fenestration. In 33 patients (group I) an Intracardiac tunnel and in 13 patients (group II) an extracardiac conduit procedure was performed. Principal findings There was no perioperative mortality. All patients showed postoperative a significant increase of arterial oxygen saturation, from 76 to 86% after surgery with fenestration, …
Microdeletion 22q11 in complex cardiovascular malformations.
1997
Besides DiGeorge, velocardiofacial and conotruncal anomaly face syndromes, some of the isolated congenital heart diseases have also been associated with a chromosomal deletion in 22q11. These disease entities, which had originally been considered to have a different genetic background, are now included in the CATCH-22 microdeletion complex. CATCH 22 is an acronym for cardiac defect, abnormal facies, thymic hypoplasia or aplasia and T-cell deficiency, cleft palate, hypoparathyroidism, and hypocalcemia. In the present study, we focused on the complex cardiovascular defects (CCVD) and screened 40 patients for a microdeletion of 22q11 by fluorescence in situ hybridization using the D22S75 DNA p…
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
2011
Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities. De novo germline mutations in the proto-oncogene HRAS cause Costello syndrome. Most mutations affect the glycine residues in position 12 or 13, and more than 80% of patients share p.G12S. To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p…
Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes
2020
PRDM16 (positive regulatory domain 16) is localized in the critical region for cardiomyopathy in patients with deletions of chromosome 1p36, as defined by Gajecka et al., American Journal of Medical Genetics, 2010, 152A, 3074-3083, and encodes a zinc finger transcription factor. We present the first fetal case of left ventricular non-compaction (LVNC) with a PRDM16 variant. The third-trimester obstetric ultrasound revealed a hydropic fetus with hydramnios and expanded hypokinetic heart. After termination of pregnancy, foetopathology showed a eutrophic fetus with isolated cardiomegaly. Endocardial fibroelastosis was associated with non-compaction of the myocardium of the left ventricle. Exom…
Psychiatric disorders in childhood cancer survivors in Denmark, Finland, and Sweden: a register-based cohort study from the SALiCCS research programm…
2022
BACKGROUND A childhood cancer diagnosis and treatment-induced somatic late effects can affect the long-term mental health of survivors. We aimed to explore whether childhood cancer survivors are at higher risk of psychiatric disorders later in life than their siblings and the general population. METHODS In this register-based cohort study (part of the Socioeconomic Consequences in Adult Life after Childhood Cancer [SALiCCS] research programme), we included 5-year survivors of childhood cancer diagnosed before 20 years of age between Jan 1, 1974 and Dec 31, 2011, in Denmark, Finland, and Sweden. In Denmark and Sweden, 94��7% of individuals were born in a Nordic country (ie, Denmark, Finland,…
Predictability of early atopy by cord blood-IgE and parental history.
1997
Summary Background Atopic family history and cord blood IgE have been used as predictors of atopic disease in newborns for about 20 years, but at least for cord blood IgE the sensitivity has been shown to be very low. The objective of this paper was to evaluate whether parental history and cord blood-IgE were more accurate predictors for the appropriate atopic phenotypes in the infants rather than for any atopy. Methods A total of 1314 newborn infants was recruited in six German obstetric departments in 1990 and followed-up for 2 years. Four hundred and ninty-ninc (38%) were at high risk for atopy with at least two first degree atopic family members and/or elevated cord-blood IgE concentrat…
Sensitization to Horse Allergens in Italy: A Multicentre Study in Urban Atopic Subjects without Occupational Exposure.
2010
<i>Background:</i> Horses play a significant role in people’s leisure time in Italy and other countries, but few data are available on IgE-mediated sensitization to horse allergens in patients without occupational exposure. We assessed, in a multicentric survey, the prevalence of horse sensitization in atopic subjects and its clinical characteristics. <i>Methods:</i> Allergists from the whole Italian territory were required to collect the results of skin prick tests from at least 100 consecutive subjects. Those patients with a positive skin test to horse dander underwent a detailed interview concerning clinical history, pet ownership and possible exposure. <i>R…
Cumulative newborn rates increase with the total number of transferred embryos according to an analysis of 15,792 ovum donation cycles
2011
Objective To measure the success of in vitro fertilization (IVF) of donated ova according to cumulative newborn rates (CNBR) per number of embryos required to achieve at least one newborn (EmbR), considering in addition the relevance of age and infertility etiology. Design Survival curves and Kaplan-Meier methods were employed to analyze CNBR with respect to the number of EmbR in a retrospective cohort of oocyte donation recipients. Setting University-affiliated infertility center. Patient(s) Infertile couples undergoing IVF with oocyte donation. Intervention(s) None. Main Outcome Measure(s) CNBR per EmbR. Result(s) The CNBR increased radically (up to 64.8%) between 1 and 5 EmbR, moderately…
How angioarchitecture of cerebral arteriovenous malformations should influence the therapeutic considerations.
1995
PURPOSE To evaluate the angioarchitectural criteria of complex cerebral arteriovenous malformations (AVMs), concerning the risk of hemorrhage and therapy planing. METHODS The magnetic resonance (MR) imaging and neuroangiographic findings of 227 AVMs (223 patients) were retrospectively evaluated. Statistical analysis was used to define the relative frequency of these lesions for hemorrhage in correlation with various parameters (i.e. age of the patient, size, location, associated aneurysms). RESULTS Onset of symptoms was between 21 and 40 years of age in 50% of cases. The ratio of centrally to convexially located lesions was 1:2. Convexial AVMs are classified by MR imaging into sulcal and gy…
Endovascular treatment of head and neck arteriovenous malformations: long-term angiographic and quality of life results.
2016
AimTo present the long-term angiographic and subjective results of patients with head and neck arteriovenous malformations (HNAVMs) after endovascular treatment.MethodsWe retrospectively analyzed the medical files of 14 patients with HNAVM who were treated between 2000 and 2014. The treatment of choice was a transarterial superselective microcatheter-based approach followed by embolization using liquid embolic agents. The patients were asked to answer a quality of life questionnaire about the following symptoms before and after treatment: pain, functional impairment, cosmetic deformity, impairment in daily life, and bleeding.ResultsComplete or >90% closure of the AVM was achieved in 6 of…