Active clinical trials for "Syndrome"

Aldehyde dehydrogenase 2 (ALDH2) is an important enzyme protecting human from the accumulation of aldehyde, the main metabolites of alcohol. The deficiency of ALDH2 gene results in flush and hang over post drinking and most importantly it has been found associated with the incidence of cancer and post myocardial infarction (MI) heart failure. In the previous studies, ALDH2 decreased the ischemic territory post infarction and using a large scaled interaction of genetic variants and ALDH2 as an instrument, the threats of alcohol consumption on Asians' cardiovascular health was underscored. Furthermore, in a meta-analysis reviewing 12 case-control studies also indicated an increase of 48% risks in patients with ALDH2 deficiency. Notably, the genetic deficiency is most prevalent in Asians. In Taiwan one of every two individuals may be the victim and the high prevalence is counted as the top of the world. However, a large scaled prospective study focusing on the prevalence of ALDH2 deficiency in patients with peripheral artery occlusive disease (PAOD) or acute coronary syndrome （ACS）remains lacking.

Measurement of neopterin in ACS patients

Children with Down syndrome (DS) often experience dangerously low heart rates on induction of anesthesia for routine procedures and this occurs at 10 times the rate of non-DS patients. Given that the cardiac output of children is heart rate dependent, bradycardia is especially perilous in this population. Historically, individuals with DS were not expected to survive beyond childhood; consequently, correction of congenital anomalies, e.g. cardiac defects, was not frequently offered. Fortunately, today individuals with DS live into adulthood and surgical correction of anomalies is universally offered. Thus, increasing numbers of children with DS are exposed to anesthesia and at risk for this hemodynamic catastrophe. It is medically unacceptable and an autonomic nervous system mechanism will be sought.

To determine differences in the urinary microbiomes, identified by polymerase change reaction (PCR) (UTIP™), of female patients with urgency and frequency syndrome with or without pelvic pain (Group A) compared to female controls without symptoms of lower urinary tract symptoms (LUTS) (Group B).

A retrospective analysis of medical records at Far Eastern Memorial Hospital from January 2008 to May 2020 about female patients with overactive bladder syndrome, who received Solifenacin or Mirabegron as the initial treatment. Factors affecting persistence of OAB medications will be analyzed.

The goal of this registry is to collect information on individuals with Microcephalic Osteodysplastic Primordial Dwarfism Type II (also called MOPDII) and other forms of microcephalic primordial dwarfism. The study team hopes to learn more about these conditions and improve the care of people with it by establishing this registry.

Chronic Prostatitis/Chronic Pelvic Pain Syndrome (CP/CPPS) is a condition with several causes of which some remain unknown. It is believed that some types of CP may be genetic or passed down (inherited) from one generation to the next. In this study, we are collecting genetic material and medical information to try to determine if genetic factors play a role in CP/CPPS. We will be collecting DNA (from Blood/Saliva sample) and urine from each participant. Bladder tissue from affected individuals will also be collected. Individuals and families with CP/CPPS will be enrolled. Family members of an individual with CP/CPPS are eligible whether or not they also experience CP/CPPS symptoms.

The pathogenesis of adrenal tumors is still not fully elucidated and the treatment options for malignant tumors are poor. The current study investigates different aspects of the pathogenesis of adrenal tumors and evaluates different therapeutic options in patients with adrenocortical carcinoma.

Based on our current understanding of Aicardi syndrome, the condition is hypothesized to occur due to a genetic change on the X-chromosome. The research team is investigating Aicardi syndrome to identify the specific gene location associated with the disorder. Th investigators are collecting blood and skin biopsy samples from patients and their parents. A permanent cell line is prepared and DNA from the blood and skin samples and cell lines is isolated and then used for genetic testing. The current research includes microarray analysis which which is used to look for duplications or deletions of genetic material, mutation analysis of candidate genes by sequencing, review of medical records to identify trends suggesting possible candidate genes of interest, and X chromosome inactivation studies.

The Hyper IgE Syndromes (HIES) are primary immunodeficiencies resulting in eczema and recurrent skin and lung infections. Autosomal dominant Hyper IgE syndrome (AD-HIIES; Job's syndrome) is caused by STAT3 mutations, and is a multi-system disorder with skeletal, vascular, and connective tissue manifestations. Understanding how STAT3 mutations cause these diverse clinical manifestations is critical to our complete understanding of bone metabolism, bronchiectasis, dental maturation, and atherosclerosis. Bi-allelic mutations in DOCK8 cause a combined immunodeficiency previously described as autosomal-recessive Hyper IgE syndrome. These individuals suffer from extensive viral infections as well as have a high incidence of malignancy and mortality. The pathogenesis of this disease and long-term natural history is being investigated. Therefore, we seek to enroll patients and families with a confirmed or suspected diagnosis of HIES syndrome for extensive phenotypic and genotypic study as well as disease management. Patients will be carefully examined by a multidisciplinary team and followed longitudinally. Through these studies we hope to better characterize the clinical presentation of STAT3-mutated HIES, DOCK8 deficiency and other causes of the hyper IgE phenotype, and to be able to identify further genetic etiologies, as well as understand the pathogenesis of HIES. We seek to enroll 300 patients and 300 relatives.