Active clinical trials for "Syndrome"

The goal of the project is to identify and clone the gene(s) responsible for the Alagille Syndrome (AGS) by a positional cloning approach. The first step towards this goal is to define the smallest genomic candidate region for AGS at 20p12 and to begin to identify genes within this region which are, by definition, candidate genes for the disease. In a collaborative effort with clinician-investigators studying the Alagille syndrome, metaphase chromosomes and genomic DNA from affected individuals will be studied for subchromosomal deletions and for mutations in the candidate genes. Characterization of genes involved in Alagille syndrome could provide important insight into the pathophysiology of the disease, the development of normal liver and treatment of this disease. Recently, we and others found that mutations in Jagged1, a Notch1 receptor are responsible for Alagille Syndrome.

Lentiginosis refers to groups of diseases marked by the presence of pigmented spots on the skin. These conditions are most commonly associated with multiple tumors and changes in hormone producing glands. The cause of these diseases is unknown, but researchers suggest there may be a level of inheritance involved in their development. Meaning to say that some of these diseases may "run in the family" and be passed down form generation to generation. Primary pigmented nodular adrenocortical disease (PPNAD) is a pituitary-independent, primary adrenal form of hypercortisolism characterized by; Resistance to suppression by the drug dexamethasone The body is unable to secrete cortisol in a normal rhythm Distinct microscopic changes of both adrenal glands PPNAD can be associated with tumors (myxomas) of the skin, heart, breast, tumors (swannomas) of the nerve sheaths, pigmented spots (nevi and lentigines) of the skin, growth hormone (GH) producing tumors of the pituitary gland, and tumors of the testicles, ovaries, and thyroid gland. In the presence of these associations the condition is referred to as the Carney Complex. Presently there are no tests for screening of PPNAD and the Carney Complex. In addition, it is unknown how these conditions are genetically transferred from generation to generation. This study proposes to use standard methods of clinical testing for endocrine and nonendocrine diseases and genetic testing in order to; Define the genetic basis for PPNAD and/or the Carney Complex. Determine the molecular changes associated with the development of the tumors. Identify carriers of the disease. Determine the prognosis for carriers and affected individuals. Provide sufficient data for genetic counseling of families with PPNAD and/or Carney Complex.<TAB>...

The objective of this observational study is to estimate the number of weeks of welfare benefits, i.e. sickness benefit, unemployment benefit and social assistance, for individuals with functional somatic disorders and compare them to healthy individuals, and individuals with severe physical disease.

Visual snow syndrome (VSS) is a neurologic condition where patients experience tiny flickering dots in their entire visual field. It has been reported that the brain consumes more glucose in the lingual gyrus (a subdivision of the occipital cortex) and that this also shows increased volume of grey matter (neurons and supporting cells). In this study, the investigators apply fluor-18 fluorodeoxyglucose positron emission tomography with magnetic resonance imaging (18F-FDG PET/MR) in patients with VSS and compare this to healthy controls. Aside from an analysis in each brain volume element (voxel), the accuracy of classifying groups based on a volume-of-interest (VOI) analysis of both PET and MR is studied, Lastly, this is also compared to a visual assessment of the PET and MR images.

The goal of this multicenter prospective clinical cohort study is to investigate the impact of early use of low-dose Ticagrelor-based dual antiplatelet agent therapy (TDAPT) (ticagrelor 120mg daily; l-TDAPT) as compared to standard-dose TDAPT (ticagrelor 180mg daily; s-TDAPT) in outcomes of percutaneous coronary intervention (PCI). The main question it aims to answer are: Given the low ischemic risk and high bleeding tendency in Asians, the low dose TDAPT may provide better net clinical benefits of ischemic and bleeding events than the standard dose TDAPT.

The goal of this observational case-control study is to learn about direct healthcare use and costs of functional somatic disorders. The aim of the proposed study is to investigate the use and costs of direct healthcare for individuals with functional somatic disorders. Researchers will compare direct healthcare use and costs of individuals with functional somatic disorders and compare them with that of healthy controls and individuals with other severe physical disease, respectively.

Post-thrombotic syndrome (PTS) is the most common chronic complication of deep vein thrombosis (DVT). The endovascular recanalization and stenting technique has become the gold standard treatment for medically resistant and disabling PTS. Stent thrombosis is a significant complication of this procedure; the risk factors for thrombosis are poorly understood. Monitoring the patency of the stent is a key component in maintaining clinical success. Doppler ultrasound is the first-line diagnostic tool for monitoring patients with venous stents, and has the potential to allow accurate assessment of venous stent obstruction. Absence of validated morphological and hemodynamic echodoppler criteria for the follow-up of these stents. • Main objective: Clinical and hemodynamic results of venous recanalisations by stenting in the chronic phase • Secondary objective (s): External validation of hemodynamic criteria proposed in the literature to detect venous stent obstruction Risk factors for venous stent restenosis

Utilising a novel pre-surgical grading system to class cases of asherman syndrome into 3 groups based on expected difficulty of surgery and potential prognostic outcomes.

Primary Sjögren's syndrome (pSS) is a chronic, immune-mediated inflammatory disease mainly characterized by exocrine gland involvement. Beyond the wide heterogeneity in clinical presentation, neurological manifestation is one of the important systemic involvement of pSS. The prevalence of neurological involvement varies widely from 10% to 60% in different series. Small fiber neuropathy (SFN) as a popular clinical entity in recent years targets nociceptive thinly myelinated A-delta and unmyelinated C-fiber nerves and is frequently associated with burning and allodynic pain. Previous studies have demonstrated that SFN is frequently seen in patients with pSS and has an important clinical importance because it cannot be detected by routine electrophysiological studies. Various methods can be used in the detection of SFN, and cutaneous silent period (CSP) measurement is gaining popularity recently due to its non-invasiveness and practical fashion. In this study, the investigators aimed to compare CSP parameters as an indicator of SFN in patients with pSS and in the healthy population and to reveal its relationship with clinical parameters.

Subacromial and subcoracoid impingement have been categorized as external impingement, one type of shoulder impingement syndrome (SIS). Differentiation between subacromial impingement and subcoracoid impingement are important in determining the treatment target. The thickness of the coracohumeral ligament (CHL) may affect coracohumeral distance (CHD), which has been suggested as a possible factor in developing subcoracoid impingement with subscapularis (SSC) lesion. Evidence that indicates the existence of abnormal SSC, CHL thickness and CHD in people with SIS is limited. The purposes of the study were (1) to evaluate the correlations between CHL thickness and CHD by using ultrasonography in people with SIS with and without SSC lesion, (2) to examine the difference in SSC/CHL thickness and CHD between people with SIS with and without SSC lesion.