Active clinical trials for "Syndrome"

This study is being conducted to identify pediatric patients with Hunter syndrome who have neurodevelopmental disease characteristics, who are currently receiving treatment with Elaprase, and who may be suitable to participate in a clinical study with an investigational agent.

The purpose of the study is to find out if people with Prader-Willi syndrome have a difference in the protein which changes inactive cortisone to the active stress hormone cortisol.

The purpose of the study is to map regions of brain activation following rectal stimulation in children with irritable bowel syndrome (IBS) and healthy controls.

The investigators aim to compare four different lung recruitment techniques (described in literature) to Computed tomography scan analysis.

The purpose of this study is to describe the hormones controlling fluid balance in pediatric patients with nephrotic syndrome. Further more, an analysis of the urinary and plasma proteins will be done using proteomics. Different composition of proteins in the urine or plasma might indicate if the patients will respond to treatment or not.

The purpose of this study is to determine whether a clinical diagnosis of irritable bowel syndrome based on patient reported symptoms and a few blood tests is safe, and to determine whether a clinical diagnosis is as good for the patient and as economical for the society as a diagnosis based on exclusion of a number of organic diseases by performing a number of blood tests, fecal analyzes and a scopic examination of bowel. The purpose of the second part of the study is to determine which intestinal parasites the patients have in their bowel and whether these parasites are the cause of the disease.

Long QT Syndrome (LQTS) is a disease of young adults and can affect women of child bearing age. Suffers of LQTS are at risk of ventricular dysrhythmias including torsades de pointes and ventricular fibrillation. Pregnancy increases the chance that any mother may have an abnormal heart rhythm or arrhythmia. This chance is higher with the LQTS. There are only a few reported cases of women with the LQTS having a baby in the medical literature. This can make it difficult for the doctor caring for a pregnant woman with the long QT syndrome - especially should they need an anesthetic. We would like to study as many women who have had a baby who have the long QT syndrome to give us a better idea of whether there are any arrhythmias occurring at the time of delivery.

The purpose of this study is to collect surface electrograms from standard and several non-standard configurations in patients with long QT syndrome, heart failure, cardiac resynchronization therapy or wide QRS during a routine outpatient assessment. The ECGs collected will be used as test signals by the sponsor for the development of a subcutaneous implantable defibrillator

This study will investigate differences among people with focal dystonia (FD), complex regional pain syndrome (CRPS) and people who have both conditions to learn more about the cause of both disorders. Participants undergo the following procedures in five visits: Electroencephalography (EEG). Electrodes (metal discs) are placed on the scalp with an electrode cap, a paste or a glue-like substance. The spaces between the electrodes and the scalp are filled with a gel that conducts electrical activity. Brain waves are recorded while the subject lies quietly and sensory stimulation is applied to the thumb or finger. Magnetic resonance imaging (MRI). This test uses a magnetic field and radio waves to obtain images of body tissues and organs. The patient lies on a table that can slide in and out of the scanner, wearing earplugs to muffle loud knocking and thumping sounds that occur during the scanning process. The procedure lasts about 45 minutes, during which time the patient will be asked to lie still for up to 15 minutes at a time. Transcranial magnetic stimulation (TMS). An insulated wire coil is placed on the scalp and a brief electrical current is passed through the coil. The current induces a magnetic field that stimulates the brain. There may be a pulling sensation on the skin under the coil and a twitch in muscles of the face, arm or leg. During the stimulation, subjects may be asked to keep their hands relaxed or to contract certain muscles. Peripheral electrical stimulation. In two experiments, TMS is combined with peripheral electrical stimulation, similar to what is used in nerve conduction studies, to the median nerve at the wrist. There may be muscle twitching. Surface electromyography. For TMS tests and peripheral electrical stimulation, electrodes are filled with a conductive gel and taped to the skin to record the electrical activity of three muscles on the right hand. Needle EMG. A needle is inserted into a muscle to record the electrical activity. Nerve conduction studies. A probe is placed on the skin to deliver a small electrical stimulus, and wires are taped to the skin record the nerve impulses. These studies measure the speed with which nerves conduct electrical impulses and the strength of the connection between the nerve and the muscles. Skin biopsy. Two sites are biopsied. A local anesthetic is given to numb the area and a 1/4-inch piece of skin is removed with a special tool. JVP domes. Subjects are tested for their ability to discriminate sensory stimuli in the affected region and on the other side of it. They are asked to discriminate between stamps with grooves of different widths that are applied to the hands or feet.

Klinefelter syndrome (KS) is the most common sex-chromosome disorder with a prevalence of one in 660 men and is a frequent cause of hypogonadism and infertility. It is caused by the presence of extra X-chromosomes, the most common karyotype being 47,XXY. The phenotype is variable, but the most constant finding is small hyalinized testes, hypergonadotrophic hypogonadism, infertility, eunuchoid body proportion, increased height and learning disabilities. Klinefelter syndrome has been associated with increased prevalence of diabetes, osteoporosis and cardiovascular diseases but the pathogenesis is unknown. Accordingly the aim of the study was to investigate measures of body composition, insulin sensitivity, bone mineral density, echocardiography, as well as biochemical markers of endocrine, metabolic and bone function in KS and an age-matched control group.