Relationship Between a Sedentary Lifestyle and Adipose Insulin Resistance.

Sedentary people have insulin resistance in their skeletal muscle, but whether this also occurs in fat cells was unknown. Insulin inhibition of hydrolysis of triglycerides (antilipolysis) and stimulation of triglyceride formation (lipogenesis) were investigated in subcutaneous fat cells from 204 sedentary and 336 physically active subjects. Insulin responsiveness (maximum hormone effect) and sensitivity (half-maximal effective concentration) were determined.

Current genetic landscape in common variable immune deficiency.

Using whole-exome sequencing to examine the genetic causes of immune deficiency in 235 common variable immunodeficiency (CVID) patients seen in the United States (Mount Sinai, New York), 128 patients from Sweden, and 208 from Iran revealed 68 known disease-causing genes underlying this heterogeneous immune defect. The patients at the time of study ranged from 4 to 90 years of age. Overall, 31%, 36%, and 54% of the patients in the US, Swedish, or Iranian cohorts had mutations.

The Immunoglobulins: New Insights, Implications, and Applications.

Immunoglobulins (Igs), as one of the hallmarks of adaptive immunity, first arose approximately 500 million years ago with the emergence of jawed vertebrates. Two events stand out in the evolutionary history of Igs from cartilaginous fish to mammals: () the diversification of Ig heavy chain (IgH) genes, resulting in Ig isotypes or subclasses associated with novel functions, and () the diversification of genetic and structural strategies, leading to the creation of the antibody repertoire we know today. This review first gives an overview of the IgH isotypes identified in jawed vertebrates to date and then highlights the implications or applications of five new recent discoveries arising from comparative studies of Igs derived from different vertebrate species.

Long-term liver-related morbidity and mortality related to chronic hepatitis C virus infection in Swedish patients with inherited bleeding disorders.

Introduction: Hepatitis C virus (HCV) infection is common in patients with inherited bleeding disorders treated with clotting factor concentrates prior to the introduction of viral inactivation of these products. The long-term consequences of hepatitis C infection in Swedish patients are not fully understood.

Aim: To examine the impact of HCV infection on liver-related morbidity and mortality in Swedish patients with inherited bleeding disorders.

Susceptibility loci for atopic dermatitis on chromosome 21 in a Swedish population.

Background: Atopic dermatitis (AD) is a hereditary, pruritic, chronic, relapsing, inflammatory skin disease resulting from multiplex interactions between genes and environmental factors. We have previously found several loci showing suggestive linkage on chromosomes 3q14, 13q14, 15q14-15 and 17q21, and weaker linkage to chromosomes 1p32, 4q24-26 and 21q21 in 109 Swedish families.

Methods: In order to confirm the linkage to chromosome 21, we carried out a replication linkage analysis with additional microsatellite markers on chromosome 21 in another set of 295 families.

Power spectral and Poincaré plot characteristics in sinus node dysfunction.

A salient feature of the normal sinus node activity is its prominent beat-to-beat variability, which shows self-similarity on different time scales (fractal dynamics). However, in patients with sinus node dysfunction, short-term time sinus cycles show exaggerated variability, the characteristics of which have not been analyzed. Therefore, Poincaré plots and power spectral analysis were applied to short-term variations of sinus cycles in 30 patients with and 30 patients without sinus node disease.

The hormone-sensitive lipase i6 gene polymorphism and body fat accumulation.

Background: The hormone sensitive lipase (HSL) catalyses the breakdown of adipose tissue triglycerides into free fatty acids. The objective of this study was to determine whether HSLi6 microsatellite allele 5 (A5) and/or homozygosity for this allele is associated with body fat in Swedes.

Design: A large case-control study on gender-specific association for several body fat-related clinical parameters to HSLi6 A5, and to HSLi6 A5 homozygosity, comparing A5 with the other alleles in group.

Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment.

Several cases with microscopically visible, terminal 6p deletions have been described, and a distinct clinical phenotype has emerged, including developmental delay, congenital heart malformations, ocular abnormalities, hearing loss and a characteristic facial appearance. We report a patient with a submicroscopic 6p deletion, detected by subtelomeric screening using fluorescence in situ hybridisation. This girl presented with typical facial dysmorphic features, hearing impairment, malformation of the anterior eye segment, an ASD and severe language impairment.

Transient proarrhythmic state following atrioventricular junction radiofrequency ablation: pathophysiologic mechanisms and recommendations for management.

The induction of complete heart block by radiofrequency ablation of the atrioventricular junction combined with pacemaker implantation has become an established therapy for rate control in patients with atrial fibrillation who are unresponsive to drugs. Reports of ventricular arrhythmias and sudden death after ablation have, however, raised concerns about safety. Ventricular arrhythmias are usually polymorphic and related to a phase of electrical instability due to an initial prolongation and then slow adaptation of repolarization caused by the change in heart rate and activation sequence.

Cortisol and vital exhaustion in relation to significant coronary artery stenosis in middle-aged women with acute coronary syndrome.

Background: The role of chronic stress in coronary artery disease (CAD) is not well known. Conflicting results have been obtained with regard to the stress hormone cortisol and 'vital exhaustion', a psychological construct defining the effects of long-term stress. We investigated the relationship between chronic stress, assessed by serum cortisol and vital exhaustion, and coronary artery stenosis and the importance of chronic stress in relation to standard risk factors of CAD.

FISH-mapping of a 100-kb terminal 22q13 deletion.

Both cytogenetically visible and cryptic deletions of the terminal region of chromosome 22q are associated with a clinical phenotype including mental retardation, delay in expressive speech development, hypotonia, normal to accelerated growth and minor facial dysmorphic features. The genes responsible for the development of the phenotype have not yet been identified, but a distal localization is probable, since the cytogenetically visible and the cryptic deletions show a similar pattern of symptoms. We report a 33-year-old woman with a submicroscopic 22q13 deletion, mild mental retardation, speech delay, autistic symptoms and mild facial dysmorphic features.

Susceptibility loci for atopic dermatitis on chromosomes 3, 13, 15, 17 and 18 in a Swedish population.

Atopic dermatitis is a hereditary, pruritic, inflammatory and chronic skin disease that typically presents in early childhood and may continue or recur later. The etiology of atopic dermatitis is unknown, but several lines of evidence indicate that it is a multifactorial disorder caused by the combined influence of genetic and environmental factors, even though the relative contributions of genes and environment are not known. To identify important loci that contribute to the development of atopic dermatitis, we conducted a genome-wide linkage analysis with 367 microsatellite markers, using a non-parametric affected relative-pair method in 109 pedigrees.

Transient proarrhythmic state following atrioventricular junctional radiofrequency ablation.

This study was designed to prospectively assess ventricular de- and repolarization by the QRS, QT, and JT intervals, and their dispersion in the 12-lead ECG during right ventricular pacing at 60, 70, and 80 beats/min during the first month after AV junctional RF ablation. Previous reports have found early polymorphic ventricular arrhythmia after RF AV junctional ablation. Our hypothesis was that there is a proarrhythmic state following this procedure, which depends on the paced rate and time after ablation.

Detailed characterization of a complex karyotype in a patient with primary plasma cell leukaemia using multicolour spectral karyotyping and micro-FISH.

Introduction: Plasma cell leukaemia is a rare disorder that usually carries an aggressive course with a rapidly fatal outcome. A variety of chromosomal abnormalities have been reported in plasma cell leukaemia but the clinical significance of an abnormal karyotype is still unclear.

Materials And Methods: We have applied the molecular cytogenetic techniques multicolour spectral karyotyping and microdissection in combination with fluorescence in situ hybridization on metaphases from a patient with primary plasma cell leukaemia and a fatal outcome.

Magnetocardiographic and magnetic resonance imaging for noninvasive localization of ventricular arrhythmia origin in a model of nonischemic cardiomyopathy.

Ventricular arrhythmia may in myocardial failure arise as a consequence of remodeling related to hypertrophy and dilatation. In surgically repaired tetralogy of Fallot (TOF), which carries a substantial risk for ventricular arrhythmias and sudden death, the situation is even more complex and several potential arrhythmia mechanisms exist. The authors wanted to test a completely noninvasive localization technique, magnetocardiography (MCG) and magnetic resonance imaging (MRI), to define the origin of ventricular ectopic beats (VEBs) in this model of nonischemic cardiomyopathy.

Lung deposition and extremely slow inhalations of particles. Limited effect of induced airway obstruction.

Studies of lung deposition and clearance have focused on the large airways. Still, lung diseases affect also the small airways. We have developed a method for selective particle deposition in the smallest ciliated airways.