View clinical trials related to Abnormalities, Multiple.
Filter by:Background: - Rare and undiagnosed conditions are often chronic and disabling, with symptoms affecting different organ systems at various levels of severity. Perhaps the most challenging feature of an undiagnosed medical condition that has lasted 2 or more years is its characteristic uncertainty. In the absence of a diagnosis, health care professionals can provide only limited treatment and prognostic information. - In the case of a child with an undiagnosed condition, the uncertainty that accompanies what is often a chronic, debilitating medical condition and an undefined prognosis may have physical, psychological, social, and spiritual implications for the entire family. Research suggests that parents of a child with an undiagnosed medical condition may be at significantly increased risk of anxiety, depression, poor health, and overall lower quality of life. - It is not well understood how individuals cope with and adapt to chronic uncertainty, and the factors that influence this process. To design future interventions, descriptive studies are needed to reveal predictors that can be manipulated to improve outcomes. Objectives: - To examine whether perceptions of uncertainty, and perceived personal control, are associated with coping and adaptation. - To examine how the length of time elapsed since child was identified as sick and perceptions of uncertainty affect coping and adaptation. - To assess how perceptions of uncertainty, time elapsed since child became sick, optimism, and perceived personal control affect coping and adaptation. Eligibility: - Parents (older than 18 years of age) of children who have an undiagnosed medical condition. - Participants must have a working e-mail address or fixed postal address. Design: - Parents will be recruited from Web-based support networks for parents of undiagnosed children through Web site postings, electronic mailing lists, and printed newsletter postings. - Participants will be asked to complete a questionnaire about their experiences in living with a child who has an undiagnosed but chronic medical condition. The main outcome variable is adaptation to living with one's child's undiagnosed medical condition. - Participants have the option to complete an online or paper version of the questionnaire. The questionnaire should take between 20 and 30 minutes to complete. - No medical treatments are specifically offered as a part of this study.
Primary objective: - assessment of the prevalence of AHI1 mutations in Joubert syndrome and cerebello-oculo-renal syndromes (JS/CORS) Secondary objective: - assessment of the prevalence of CEP290 mutations and NPHP1 homozygous deletions in JS/CORS - caracterization of mutational spectrum of AHI1, NPHP1, CEP290 genes in JS/CORS. - evaluation of genotype-phenotype correlation in JS/CORS.
Ehlers-Danlos syndrome vascular type (EDS-IV) is caused by a genetic defect of collagen type III. Patient die (median 40 yrs) of vascular complications. There is no treatment. We showed that arteries are thin and overloaded in this patients. We test the protective effect of celiprolol on cardiovascular events in a 5 years, randomized, PROBE design
This study will examine blood or other tissue samples from patients with Fraser syndrome and patients with Fryns syndrome to try to identify the gene responsible for these diseases. Fraser syndrome is characterized by congenital abnormalities including cryptophthalmos (lack of eyelid formation), syndactyly (webbed fingers or toes) and abnormal genitalia. Patients may also have abnormalities of the nose, ears and larynx (voice box), cleft lip or palate, and kidney agenesis. Fryns syndrome is characterized by hernia through the diaphragm, cloudy cornea, coarse facial features, cleft lip or palate, abnormal fingers and toes, heart, kidney and brain malformations and hydrocephalus (accumulation of fluid around the brain). This protocol consists of laboratory study only; it does not involve patient care or patient counseling. Patients with Fraser syndrome or Fryns syndrome are eligible for this study. Parents and healthy siblings of patients will also be included for genetic study, and parents of children with undiagnosed multiple congenital anomalies syndromes will be included for comparison study. Participants will provide a blood sample (about 8 to 10 teaspoons from adults; 1 to 3 teaspoons from children) or sample of skin cells collected by swabbing the inner surface of the cheek. Some patients may undergo a skin biopsy, in which a small skin sample (about 1/8-inch in diameter) is surgically removed. The tissue samples will be used to obtain DNA (genetic material) for laboratory testing. A permanent cell line-a collection of cells grown in the laboratory from the original tissue specimen-will also be established to enable additional testing in the future.