Active clinical trials for "Syndrome"

This study focuses on the genetics and metabolism of Donnai-Barrow Syndrome (DBS).

A retrospective study of 5753 eyes of cataract surgery patients was conducted at our Clinic. Ocular optical components measured by optical low coherence reflectometry biometer LENSTAR LS 900® of the cataract myopic eyes with pseudoexfoliation syndrome were put in comparison with those of cataract myopic eyes group without pseudoexfoliation syndrome.

Turner Syndrome is a common genetic disorder. Seventy percent of adults with Turner Syndrome have abnormalities in glucose metabolism which can lead to diabetes. The current screening guidelines for diabetes in Turner Syndrome are not specific and involve a fasting blood sugar once a year. The objective of this study is to determine if there are abnormalities in glucose metabolism and pancreatic function in young girls with Turner Syndrome. The study hypothesis is that pancreatic dysfunction (specifically of the beta cells that make insulin) is more prevalent in girls with Turner Syndrome compared to healthy controls.

A clinically applicably strategy for molecular screening for Lynch Syndrome is being implemented in Denmark. Based on sequential analysis with immunohistochemistry and methylation analysis, patients with possible hereditary colorectal cancer are identified. These patients are offered genetic risk assessment and counselling. The study hypothesis is that molecular screening will identify more patients with Lynch Syndrome than the family history alone. Prospective data collection is performed using established clinical databases.

Patients undergoing major procedures in oral and maxillofacial surgery more often develop a systemic inflammatory response syndrome (SIRS) in the first days of postoperative critical care therapy than patients with a comparable major surgery in other regions. The reasons for this finding are unknown and have not been studied in depth so far. We hypothesize that surgical trauma in this region might activate pro-inflammatory pathways. By examining the proteome of patients at different stages (prior to the surgery, at ICU admission, on the second postoperative day and when SIRS has ended clinically), we aim to identify the involved pro-inflammatory pathways and identify possible target proteins that might be clues to modification of postoperative SIRS in the future.

To Investigate the Prevalence of Capsular Bag Distention Syndrome To Analyze Influencing Factors of Capsular Bag Distention Syndrome

Postmenopausal Osteoporosis is characterized by a decrease in bone mass as well as a deterioration of the bone architecture resulting in an increased risk of fracture,which is directly related to the lack of estrogen and also associated with a variety of genetic and acquired factors. Previous studies have found that POP molecular regulation mechanism of kidney Yang deficiency syndrome may be associated with LTBP1 gene expression. This topic using RT-PCR and Western Blot detection POP of kidney Yang deficiency group and healthy group LTBP1 mRNA and proteion's expression level,validate LTBP1 relevance to POP the kidney Yang deficiency syndrome.To provide a scientific basis for clinical treatment.

The purpose of this study is to determine whether a relationship exists between gene deletion(s) specific to the mitochondrial electron transport chain and presentation of clinical characteristics in patients with Phelan-McDermid Syndrome (PMS).

This study proposes to verify the total energy expenditure in patients with short bowel syndrome using the doubly labeled water method, as well as determining the rate of oxidation of nutrients, aiming to assist the management of nutritional therapy for these patients.

In the era of hypomethylating agent in MDS treatment, the investigators aimed to investigate the prognostic impact of mutations in spliceosome machinery genes (SRSF2, U2AF1, and ZRSR2) on the outcomes of 1st line decitabine treatment in MDS.