Active clinical trials for "Syndrome"

The objective of the study is the provide proof of high correlation between somatic and germline mismatch repair instability. This correlation is specifically researched in an area where patients have less access to cancer education and genetic testing for various reasons such as lack of insurance and general accessibility. The study concentrates on early diagnosis of Lynch syndrome. Lynch syndrome is usually diagnosed from a blood test resulting in a mutation of one of the mismatch repair genes. Those are MLH1, MSH2, MSH 6, PMS2. A mutation in one of these genes creates a mismatch repair instability,hence higher incidence of cancers in specific organ groups. Amongst these organs are the Uterus, Ovaries, Upper genitourinary system, Pancreas and GI system. The most common endometrial carcinoma which is found in Lynch syndrome is of endometrioid histology. Most patients with known germline mismatch repair instability, have the same somatic mutation. Our study is looking into correlating somatic mutation to germline mutation. By doing so, patients diagnosed with somatic mismatch repair instability will be also diagnosed with lynch syndrome without germline genetic testing. Screening programs will be utilized earlier and preventive procedures offered. Due to less access to educational programs, genetic counseling and testing in underserved areas, patients are sometimes lost to follow up. Our study seeks to prove high correlation between somatic and germline mutations and by doing so, patient will be diagnosed with Lynch syndrome straight after endometrial cancer staging. As a result, increased compliance will be expected and patients will be offered the recommended preventative surgeries and screening protocols.

This is a prospective observational clinical trail which will recruit 1000-1500 participants over 65 years with frailty and acute coronary syndrome (ACS) in Beijing Friendship hospital. The investigators will conduct frailty assessment (FRAIL scale, CFS, SPPB), comorbidities, functional status (Barthel index, ADL, IADL), nutritional risk (MNA-SF), and then observe the clinical outcomes of elderly ACS participants with frailty. Then, the investigators will follow-up these participants separately in 1,3,6 and 12months, the anticipate follow-up time is 1 year. According to the follow-up results, investigators will evaluate the impact of frailty and other senile syndromes on the short-term and long-term prognosis of ACS, and develop a scoring system for the prognosis evaluation of elderly ACS participants.

The goal of this study is to compare the features of Turner syndrome in girls who are diagnosed before birth because of fetal concerns versus those who are diagnosed when their mother has an amniocentesis for another reason.

This is a historical cohort study with retrospective collection of data comprising all Nordic patient's diagnosed with Eisenmengers syndrome in the period 1977 through 2011. The goal is to determine prognostic factors for mortality and morbidity.

Macrophage activation syndrome(MAS) is a complication of bone marrow suppression, coagulopathy and CNS dysfunction which occurs in rheumatic diseases. Normally the (Hemophagocytic Lympho-Histiocytosis) HLH-2004 criteria is used to diagnose patients with MAS. However this criteria is probably not sensitive and would probably be fulfilled quite late into the disease. Thus there would be an unacceptable delay. Ravelli et al came up with a different set of criteria based on data of patients reported in literature. Systemic onset juvenile idiopathic arthritis (SoJIA) is the most common cause of MAS. MAS in other rheumatic illnesses occurs in the setting on unbridled inflammation. In both SoJIA and uncontrolled rheumatic disease the patient is liable to have high WBC counts and high platelet counts. Bone marrow suppression which is one of the pathognomic features of MAS would be picked up very late if absolute cut off values were utilized. Kelly et al used the same arguments in their review to suggest that in MAS/Reactive hemophagocytic lymphohistiocytosis(ReHLH), the trend of change in laboratory parameters would be more useful than absolute cut offs. Hence the investigators propose new candidate criteria which are based on trends of laboratory parameters and seek to determine their utility in comparison to absolute cut offs of HLH or Ravelli criteria. The investigators also wanted to determine that among the Ravelli criteria and HLH-2004 criteria, which were fulfilled earlier in patients diagnosed as having MAS. Study hypothesis:-Criteria which measure serial trend of laboratory parameters would be fulfilled earlier than absolute cut offs when diagnosing MAS in patients with rheumatic illness.

Currently, the pathophysiology of Irritable bowel syndrome( IBS) remains unclear . The purpose of this study is want to investigate the immunological changes in the children with IBS.

The purpose of this study is to assess the validity and reliability of an abstinence syndrome assessment tool used in pediatric patients with iatrogenic opioid dependence.

The purpose of the study is to determine whether antipsychotic treatment is influence psychiatric patients due to endocrine and metabolic status and a quality of life. The investigators expect, that 30-50% of patients will show pharmacon - gene induced weight gain (> 7% of initial bodyweight) while the rest of patients will maintain unaltered bodyweight.

Identify pediatric oncologic patients with ALI/ARDS at GRAACC/IOP's Pediatric Intensive Care Unit and evaluate the mechanical ventilation practice in these subjects for a 48mo period.

There is some evidence for a hypercoagulable state in sleep apnea-hipopnea syndrome (SAHS), which could play a role in the increased cardiovascular morbility and mortality. Respiratory alterations (hypoxia, hypoxia- reoxygenation) and sleep fragmentation that these patients suffer during the sleep may induce modifications in clotting-fibrinolisis factors that may be a risk factor for venous thromboembolism (VTE). OBJECTIVES:To calculate and compare the prevalence of sleep apnea-hipopnea syndrome in patients with venous thromboembolism with a gender, aged and BMI matched control group. Assessment of the association between SAHS and other risk factors for VTE. To compare clotting- fibrinolisis patterns, sleep parameters, blood pressure and pulmonary arterial obstruction index in patients with SAHS and VTE and those ones without SAHS.