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Socio-occupational status and congenital anomalies

2009

Udgivelsesdato: 2009-Feb-12 BACKGROUND: The aim of this study is to investigate the association between socio-occupational status and the frequency of major congenital anomalies in offspring. METHODS: The study population comprised 81 435 live singletons born to mothers enrolled in the Danish National Birth Cohort between 1996 and 2002. A total of 3352 cases of major congenital anomalies (EUROCAT criteria) were identified by linkage to the National Hospital Discharge Register. Malformations were recorded at birth or in the first year of life. Information about maternal and paternal socio-occupational status was collected prospectively using telephone interviews in the second trimester of pr…

Role of Imaging in the Assessment of Age Estimation

2019

Age assessment by skeletal age estimation of unknown individuals is of paramount importance in forensic science, both for assessing imputability (if the author of a crime is old enough to be tried and judged), both in case of unaccompanied minors, or whether refugees and asylum seekers are adults or juveniles, which implies different legal issues and procedures. The aim of this article is to review the age estimation methods used in forensic practice.

Evolution of indeterminate hepatocellular nodules at Gd-EOB-DPTA-enhanced MRI in cirrhotic patients

2018

To retrospectively analyze the evolution of indeterminate hepatocellular nodules in cirrhotic patients on serial Gd-EOB-DPTA-enhanced MRI, and to identify predictors of HCC development. This IRB approved study included 33 cirrhotic patients with 69 indeterminate hepatocellular nodules (mean diameter 1.1 cm) at baseline Gd-EOB-DPTA-enhanced MRI and a Gd-EOB-DPTA-enhanced-MRI follow-up of at least 2 years. Two radiologists evaluated size and signal intensity of each nodule at baseline and follow-up. Age, cirrhosis etiology, and HCC history were recorded. Data were compared between nodules that became HCCs at follow-up (HCC) and those that did not (no-HCC). On follow-up, 5/69 nodules became HC…

Genome-wide Association Study of Alcohol Dependence

2009

Context Alcohol dependence is a serious and common public health problem. It is well established that genetic factors play a major role in the development of this disorder. Identification of genes that contribute to alcohol dependence will improve our understanding of the mechanisms that underlie this disorder. Objective To identify susceptibility genes for alcohol dependence through a genome-wide association study (GWAS) and a follow-up study in a population of German male inpatients with an early age at onset. Design The GWAS tested 524 396 single-nucleotide polymorphisms (SNPs). All SNPs with P −4 were subjected to the follow-up study. In addition, nominally significant SNPs from genes t…

A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region

2010

Long-term leisure time physical activity and properties of bone: A twin study

2009

Effects of physical activity on bone properties, when controlled for genetic effects, are not fully understood. We aimed to study the association between long-term leisure time physical activity (LTPA) and bone properties using twin pairs known to be discordant for leisure time physical activity for at least 30 yr. Volumetric BMD and geometric properties were measured at the tibia shaft and distal end using pQCT in 16 middle-aged (50-74 yr) same-sex twin pairs (seven monozygotic [MZ] and nine dizygotic [DZ] pairs) selected from a population-based cohort. Paired differences between active and inactive co-twins were studied. Active members of MZ twin pairs had larger cortical bone cross-secti…

A Study of Maternal Competence in Preterm Birth Condition, during the Transition from Hospital to Home: An Early Intervention Program’s Proposal

2021

The study was conducted with 104 mothers (average age 32.5 years, SD 6.1) of preterm infants (very and moderately preterm but still healthy) to monitor the perceived maternal role competence from the time of hospitalisation to post-discharge, in order to define an intervention program to support mothers during this transition. A targeted Q-Sort tool (Maternal Competence Q-Sort in preterm birth) was applied at two different times as a self-observation tool for parenting competence in neonatology. A tendency towards dysregulation of the maternal role competence was detected, mainly in terms of low self-assessment and was found to worsen during post-discharge, particularly with regard to careg…

The short‐term effect of levocetirizine on quality of life, stress, and depression in itchy psoriasis patients

2019

Efficacy and safety of lomitapide in homozygous familial hypercholesterolaemia: the pan-European retrospective observational study

2021

Abstract Aims Lomitapide is a lipid-lowering agent indicated as an adjunct therapy for adult homozygous familial hypercholesterolaemia (HoFH). This study evaluated the medium-term effectiveness and safety of lomitapide in a large cohort of HoFH patients in Europe. Methods and results In a multicentre retrospective, observational study including 75 HoFH patients treated with lomitapide in a real-world clinical setting from 9 European countries, low-density lipoprotein cholesterol (LDL-C) changes, adverse events (AEs), and major adverse cardiovascular events (MACE) were assessed. After a median 19 months (interquartile range 11–41 months) of treatment with a mean dosage of 20 mg of lomitapide…

Incidence of lineage promiscuity in acute myeloblastic leukemia: Diagnostic implications of immunoglobulin and T-cell receptor gene rearrangement ana…

1988

Abstract Sixty-nine blood or bone marrow samples from both children and adults with acute myeloblastic leukemia (AML) were investigated to elucidate the frequency of immunoglobulin (IG) and T-cell receptor (TCR)-gene rearrangements. Non-germline configuration for the IG heavy chain (h) gene was detected in the specimens of nine patients of various subtypes according to the French-American-British classification (FAB), including FAB M1, M2, M4 and M5. Rearrangement of the IG kappa chain (k) gene was present in one of these cases which simultaneously revealed a rearranged TCR-beta (b) chain gene. In another two AML samples we found TCR-b gene rearrangements, in one case in combination with an…