[Uveitis and multiple sclerosis : Clinical aspects, diagnostics, management and treatment].

Approximately 0.5-1% of patients with multiple sclerosis (MS) have co-existing uveitis. Both intraocular inflammation and MS mainly affect women in younger adulthood.

[Vasculitis of the retina : Clinical aspects, diagnostics, management and treatment].

Inflammatory changes in the retinal vessels can be attributed to a wide range of etiologies. These include infections, intraocular and systemic autoimmune processes, general diseases and iatrogenic factors. As the endothelium of the retinal capillaries forms the inner blood-retinal barrier, a disruption of this structure is directly associated with consequences for the fluid electrolyte balance of the retina.

HLA-B27-positive anterior uveitis : Clinical aspects, diagnostics, interdisciplinary management, and treatment.

Acute anterior uveitis (AAU) associated with human leukocyte antigen (HLA) B27 is the most common form of noninfectious intraocular inflammation and is considered to be a separate clinical entity. Young adults between the ages of 20 and 40 years are predominantly affected. The HLA-B27 positive AAU typically presents as a unilateral, fulminant disruption of the blood-aqueous humor barrier, which is accompanied by pronounced cellular infiltration and fibrinous exudation.

[Noninfectious posterior uveitis : Clinical aspects, diagnostics, management and treatment].

Noninfectious posterior uveitis (NPU) comprises a heterogeneous group of vision-threatening, immune-mediated ocular and systemic diseases. It is predominantly bilateral and recurrent and, if not treated properly, leads to severe tissue damage that threatens the eyesight. In industrialized countries ca.

[HLA-B27 positive anterior uveitis : Clinical aspects, diagnostics, interdisciplinary management and treatment].

Acute anterior uveitis (AAU) associated with human leukocyte antigen (HLA) B27 is the most common form of noninfectious intraocular inflammation and is considered to be a separate clinical entity. Young adults between the ages of 20 and 40 years are predominantly affected. The HLA-B27 positive AAU typically presents as a unilateral, fulminant disruption of the blood-aqueous humor barrier, which is accompanied by pronounced cellular infiltration and fibrinous exudation.

Left atrial dysfunction as the major driver of heart failure with preserved ejection fraction syndrome.

Left atrial (LA) dysfunction seems to play a central role in the pathophysiology of heart failure with preserved ejection fraction (HFpEF), is associated with disease severity and poor outcomes and potentially impacts management. Identifying LA myopathy can help guide tailored therapy for HFpEF. Echocardiography allows the accurate measurement of atrial size and function, where LA strain appears to be a sensitive measure of intrinsic LA myopathy.

Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene.

Background Variants of the desmosomal protein desmoplakin are associated with arrhythmogenic cardiomyopathy, an important cause of ventricular arrhythmias in children and young adults. Disease penetrance of desmoplakin variants is incomplete and variant carriers may display noncardiac, dermatologic phenotypes. We describe a novel cardiac phenotype associated with a truncating desmoplakin variant, likely causing mechanical instability of myocardial desmosomes.

[White dot syndromes : Principles, diagnostics, and treatment].

The white dot syndromes include a group of diseases which are characterized by multiple yellowish-white foci in the outer retina, retinal pigment epithelium, and choroid. For clinicians and researchers alike they present significant diagnostic and therapeutic challenges. White dot syndromes include primary inflammatory choriocapillaropathies, such as acute posterior multifocal placoid pigment epitheliopathy (APMPPE)/acute multifocal ischemic choriocapillaropathy (AMIC), multiple evanescent white dot syndrome (MEWDS)/acute idiopathic blind spot enlargement (AIBSE), multifocal choroiditis (MFC), punctate inner choroidopathy (PIC), serpiginous choroiditis (SC), acute zonal occult outer retinopathy (AZOOR), and acute macular neuroretinopathy (AMN).

[Intraocular inflammation in multiple sclerosis].

Multiple sclerosis (MS) is a chronic inflammatory disorder of the brain and the spinal cord occurring mostly in young adults and is associated with temporary or permanent neurological deficits. An association between uveitis and MS has been recognized for a long time. Current data indicate an approximately 10 times higher prevalence of uveitis in patients with MS compared to the general population.

A heterozygous mutation in the third transmembrane domain causes a dominant-negative effect on signalling capability of the MC4R.

Background: Heterozygous MC4R mutation is the most frequent cause of monogenic obesity. For most MC4R mutations a gene dosage effect seems to be the underlying mechanism. However, a dominant negative effect of a heterozygous MC4R mutation was recently identified, pointing to an additional mechanism of MC4R inactivation.