NRSF/REST lies at the intersection between epigenetic regulation, miRNA-mediated gene control and neurodevelopmental pathways associated with Intellectual disability (ID) and Schizophrenia.

Genetic evidence indicates disrupted epigenetic regulation as a major risk factor for psychiatric disorders, but the molecular mechanisms that drive this association remain to be determined. EHMT1 is an epigenetic repressor that is causal for Kleefstra Syndrome (KS), a genetic disorder linked with neurodevelopmental disorders and associated with schizophrenia. Here, we show that reduced EHMT1 activity decreases NRSF/REST protein leading to abnormal neuronal gene expression and progression of neurodevelopment in human iPSC.

Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia.

Myoclonus dystonia is a childhood-onset hyperkinetic movement disorder with a combined motor and psychiatric phenotype. It represents one of the few autosomal dominant inherited dystonic disorders and is caused by mutations in the ε-sarcoglycan (SGCE) gene. Work to date suggests that dystonia is caused by disruption of neuronal networks, principally basal ganglia-cerebello-thalamo-cortical circuits.

[Chronic venous insufficiency--from pathophysiology to therapy. 4: Treatment of ulcus cruris--therapy guidelines].

In the field of phlebology and angiology, leg ulcer represents a complex diagnostic and therapeutic problem. The initial steps include the taking of a careful history, inspection and palpation, and thorough angiological investigation which, where the individual situation makes this necessary, must be supplemented by such further diagnostic measures as biopsy, laboratory investigations or even allergy tests. Subsequent treatment must be stage-matched and must meet the individual needs of the patient.

[Chronic venous insufficiency--from pathophysiology to therapy. 2: Sclerotherapy of varicose veins].

For the elimination of chronic ambulatory venous hypertension, sclerotherapy and surgical measures are employed in addition to compression treatment. These various measures should always be used in combination with each other. In the present article, one of a series, indications, contraindications and the practicalities of sclerotherapy are discussed in detail.

[Chronic venous insufficiency--from pathophysiology to therapy. 1: Pathophysiology--compression treatment--systemic pharmacotherapy].

At the core of chronic venous insufficiency (CVI) is valvular incompetence affecting the large veins, which results in ambulatory venous hypertension. Recent research has revealed the pathophysiological stages involved: damage to the endothelium of the vein, leukocyte trapping and, finally, inflammatory reconstruction of the vessel wall. Lymphangiopathy involving the small and large lymph vessels is always present.

[Clinical aspects of deep venous varicose insufficiency].

Attention is paid to the set of problems connected with the non-thrombotic insufficiency of the conducting veins of the leg. Phlebographic and X-ray morphometric investigations of the last years were able to prove that the primary varicosis does not exclusively represent a disease of the superficial and perforating fasciae venous system, but that the subfascial venous system (system of conductive veins) is without doubt also included in the pathogenetic reactive process. Two casuistic descriptions of cases with phlebographically and Doppler-sonographically ascertained insufficiency of the conductive veins of the leg are demonstrated.

[The clinical existence of isolated non-thrombotic insufficiency of the conductive veins of the leg].

Attention is paid to the set of problems connected with the nonthrombotic insufficiency of the conducting veins of the leg. Phlebographic and X-ray morphometric investigations of the last years were able to prove that the primary varicosis does not exclusively represent a disease of the superficial and perforating fasciae venous system, but that the subfascial venous system (system of conductive veins) is without doubt also included in the pathogenetic reactive process. Two casuistic descriptions of cases with phlebographically and Doppler-sonographically ascertained insufficiency of the conductive veins of the leg are demonstrated.

[Morphologic studies of the conductive veins of the leg in superficial varicose veins].

Issuing from the thesis of Fischer and Siebrecht that the epifascial varicosis can be accompanied by an insufficiency of the conducting and muscle veins for the first time morphological investigations on the profound venous system were carried out with the questioning whether the non-thrombotic insufficiency of the profound conducting veins of the leg an adequate morphological correlate is underlying which is to be recognized and proved histologically. On the basis of this first pilot study can be shown that similar forms of reaction take place in the part of the superficial and profound veins which are free from varices. Hitherto it is still unclear which factors are leading for the causes in the pathological mosaic.

[Diagnostic sensitivity of sonography in varicose and post-thrombotic venous insufficiency].

We report on the application possibilities of sonography in phlebology. Sonographic examination of 131 lower legs showing various clinical forms of chronic venous insufficiency is discussed. Ultrasound offers a timesaving, non-invasive, and reproducible technique to detect insufficiencies concerning orifice or trunk of the great and lower saphenous veins as well as the perforating veins.