Epidemiology of ectopia lentis and outcomes after surgery in a Danish population.

Purpose: To describe the causes of ectopia lentis (EL) and the outcomes after surgery in a Danish population.

Setting: The Eye Clinic Rigshospitalet and Kennedy Center in Copenhagen.

Design: Retrospective cohort study.

Ocular morbidity in Marfan syndrome: a nationwide epidemiological study.

Background: Ophthalmic complications are profound in Marfan syndrome (MFS). However, the overall burden is not well described. Our purpose was to evaluate the ocular morbidity in a nationwide perspective.

Musculoskeletal diseases in Marfan syndrome: a nationwide registry study.

Background: Marfan syndrome is associated with abnormalities in the musculoskeletal system including scoliosis, pectus deformities, protrusio acetabuli, and foot deformities. Over a life span, many patients with Marfan syndrome will need treatment; however, the musculoskeletal morbidity over a life span is not well described. The aim of the present study was to assess the overall burden of musculoskeletal disease in patients with Marfan syndrome.

Non-aortic cardiovascular disease in Marfan syndrome: a nationwide epidemiological study.

Objectives: Studies indicate that other cardiovascular problems than aortic disease are a burden for patients with Marfan syndrome (MFS). The aim of the study was to assess the extent of this issue.

Methods: A registry-based population study of patients with a Ghent II verified MFS diagnosis.

Maternal health and pregnancy outcome in diagnosed and undiagnosed Marfan syndrome: A registry-based study.

In Marfan syndrome (MFS), pregnancy is considered as high risk due to the deficiency of fibrillin in the connective tissue and increased risk of aortic dissection. The objective was to demonstrate the consequences on maternal health, in women with diagnosed and undiagnosed MFS at the time of pregnancy and childbirth. By using national health care registries, we identified all pregnancy related outcomes, from women with MFS (n = 183) and an age-matched background population (n = 18,300).

Fracture Rates and Fracture Risk in Patients With Marfan Syndrome: A Nationwide Register-Based Cohort Study.

Marfan syndrome (MFS), a rare genetic disease, has a prevalence of 6.5 in 100,000. Studies show that patients with MFS have reduced areal bone mineral density (BMD) compared with non-MFS individuals.

Bone Geometry, Density, and Microarchitecture in the Distal Radius and Tibia in Adults With Marfan Syndrome Assessed by HR-pQCT.

Marfan syndrome (MFS) is a hereditary disorder of connective tissue caused by mutations in the fibrillin-1 gene. Studies have shown that patients with MFS have lower bone mass, but little is known about the other constituents of bone strength. We hypothesize that patients with MFS will have larger bone area and compromised cortical microarchitecture compared with non-MFS individuals.

A placebo-controlled randomized study with testosterone in Klinefelter syndrome: beneficial effects on body composition.

Context And Objective: Males with Klinefelter syndrome (KS) are typically hypogonadal with a high incidence of metabolic disease, increased body fat and mortality. Testosterone treatment of hypogonadal patients decrease fat mass, increase lean body mass and improve insulin sensitivity, but whether this extends to patients with KS is presently unknown.

Research Design And Methods: In a randomized, double-blind, placebo-controlled, BMI-matched cross-over study, 13 males with KS (age: 34.

Clinical and pathophysiological aspects of bicuspid aortic valve disease.

A bicuspid aortic valve is not only a common congenital heart defect but also an enigmatic condition that can cause a large spectrum of diseases, such as aortic valve stenosis and severe heart failure in newborns whereas aortic dissection in adults. On the contrary, a bicuspid aortic valve can also occur with normal function throughout life and never need treatment. Numerous genetic mechanisms are involved in the abnormal cellular functions that may cause abnormal development of the aortic valve during early foetal life.

Causes of Mortality in the Marfan Syndrome(from a Nationwide Register Study).

The Marfan syndrome (MFS) is strongly associated with aortic disease causing a high prevalence of prophylactic aortic surgery, aortic dissection, and sudden death. The aim of the present study was to evaluate mortality in a nationwide Danish MFS population diagnosed by the Ghent II criteria. In a register-based setting, we identified all Danish patients with MFS (n = 412, men n = 215) by assessment of their medical records.

Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases.

Background: Genetic FBN1 testing is pivotal for confirming the clinical diagnosis of Marfan syndrome. In an effort to evaluate variant causality, FBN1 databases are often used. We evaluated the current databases regarding FBN1 variants and validated associated phenotype records with a new Marfan syndrome geno-phenotyping tool called the Marfan score.

Aortic events in a nationwide Marfan syndrome cohort.

Background: Marfan syndrome is associated with morbidity and mortality due to aortic dilatation and dissection. Preventive aortic root replacement has been the standard treatment in Marfan syndrome patients with aortic dilatation. In this study, we present aortic event data from a nationwide Marfan syndrome cohort.

Prevalence, incidence, and age at diagnosis in Marfan Syndrome.

Background: Marfan syndrome is a genetic disorder with considerable morbidity and mortality. Presently, clinicians use the 2010 revised Ghent nosology, which includes optional genetic sequencing of the FBN1 gene, to diagnose patients. So far, only a few studies based on older diagnostic criteria have reported a wide range of prevalence and incidence.

Difficulties in diagnosing Marfan syndrome using current FBN1 databases.

Purpose: The diagnostic criteria of Marfan syndrome (MFS) highlight the importance of a FBN1 mutation test in diagnosing MFS. As genetic sequencing becomes better, cheaper, and more accessible, the expected increase in the number of genetic tests will become evident, resulting in numerous genetic variants that need to be evaluated for disease-causing effects based on database information. The aim of this study was to evaluate genetic variants in four databases and review the relevant literature.

[High-risk pregnancy in a woman with Marfan syndrome, a bicuspid aortic valve, and a dilated aortic sinus].

A 29-year-old woman with Marfan syndrome, a bicuspid aortic valve, and a dilated aortic sinus (5.2 cm) presented herself in clinic 14 weeks pregnant. She was advised to discontinue the pregnancy due to risk of dissection; however, she decided to continue.

The role of hypogonadism in Klinefelter syndrome.

Klinefelter syndrome (KS) (47, XXY) is the most abundant sex-chromosome disorder, and is a common cause of infertility and hypogonadism in men. Most men with KS go through life without knowing the diagnosis, as only 25% are diagnosed and only a few of these before puberty. Apart from hypogonadism and azoospermia, most men with KS suffer from some degree of learning disability and may have various kinds of psychiatric problems.

The macrophage low-grade inflammation marker sCD163 is modulated by exogenous sex steroids.

Soluble CD163 (sCD163) is a novel marker linked to states of low-grade inflammation such as diabetes, obesity, liver disease, and atherosclerosis, all prevalent in subjects with Turner syndrome (TS) and Klinefelter syndrome (KS). We aimed to assess the levels of sCD163 and the regulation of sCD163 in regards to treatment with sex hormone therapy in males with and without KS and females with and without TS. Males with KS (n=70) and age-matched controls (n=71) participating in a cross-sectional study and 12 healthy males from an experimental hypogonadism study.

Clinical review: Klinefelter syndrome--a clinical update.

Context: Recently, new clinically important information regarding Klinefelter syndrome (KS) has been published. We review aspects of epidemiology, endocrinology, metabolism, body composition, and neuropsychology with reference to recent genetic discoveries.

Evidence Acquisition: PubMed was searched for "Klinefelter," "Klinefelter's," and "XXY" in titles and abstracts.

Cardiac arrest due to lymphocytic colitis: a case report.

Introduction: We present a case of cardiac arrest due to hypokalemia caused by lymphocytic colitis.

Case Presentation: A 69-year-old Caucasian man presented four months prior to a cardiac arrest with watery diarrhea and was diagnosed with lymphocytic colitis. Our patient experienced a witnessed cardiac arrest at his general practitioner's surgery.