Active clinical trials for "Syndrome"

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.

Validate that circulating cell free fetal nucleic acid can be used to identify a direct marker for fetal aneuploidy, particularly fetal Down Syndrome (DS), that is better than surrogate markers.

Middle and inner ear malformations on two boys with velocardiofacial syndrome are discussed.Special attention should be given to the presence of hearing loss due to middle and inner ear malformations, in addition to frequent conductive hearing loss regarding mastoid and middle ear inflammatory processes.

The purpose of this study is to evaluate and determinate the functional abilities in Rett syndrome conforming to the established Pediatric Evaluation of Disability Inventory (PEDI).

Urologic pelvic pain syndrome (UCPPS), variably termed painful bladder syndrome/interstitial cystitis (PBS/IC) in females and chronic prostatitis/chronic pelvic pain syndrome in men (CP/CPPS), is a chronic, debilitating clinical syndrome presenting as severe pelvic pain with extreme urinary urgency and frequency in the absence of any known cause. The etiologic mechanisms underlying UCPPS are unknown, but recurrence, risks to siblings of affected individuals, concordance among monozygotic twins, and our own preliminary studies indicate a strong genetic contribution to the cause of UCPPS. The overall goal of this proposal is use novel approaches to understand the basis of UCPPS, to identify candidate genes containing mutations that result in UCPPS and determine how the different encoded proteins of these genes interact with one another in a common biological pathway. Ultimately, understanding how mutations in at least five different genes yield the symptoms of UCPPS should lead to improved diagnosis and possible therapies.

Cross-sectional cohort study of participants with HIV with or without protocol-defined Fanconi syndrome (confirmed creatinine clearance [CLcr] decline and evidence of proximal tubulopathy).

Retrospectively review the charts of all children who had heart rate variability, deep breathing test, valsalva maneuver, tilt table test, thermoregulatory sweat testing, quantitative sudomotor axon reflex test (QSART) completed and were cared for at Children's Hospital of Wisconsin.

RATIONALE: Giving low doses of chemotherapy and total-body irradiation before a donor umbilical cord blood stem cell transplant helps stop the growth of cancer or abnormal cells. It also stops the patient's immune system from rejecting the donor's stem cells. The donated stem cells may replace the patient's immune cells and help destroy any remaining cancer or abnormal cells (graft-versus-tumor effect). Sometimes the transplanted cells from a donor can also make an immune response against the body's normal cells. Giving tacrolimus and mycophenolate mofetil before the transplant may stop this from happening. PURPOSE: This clinical trial is studying how well umbilical cord blood stem cell transplant works in treating patients with hematologic cancer or other disease.

Transforming Growth Factor-b1 (TGF-b1) is involved in the development of acute lung injury and in the fibroproliferation during acute respiratory distress syndrome (ARDS). Procollagen III Peptide (PIIINP) is a validated marker of fibroproliferation. PIIINP is associated with death in ARDS patients. The simultaneous changes of TGF-b1 and PIIINP were never studied in patients with ARDS. The relationships between TGF-b1 and the outcome of ARDS are unknown. The aim of the study is to analyse the changes of TGF-b1 and PIIINP during ARDS and to show the relationships between TGF-b1 - PIIINP and the outcomes of ARDS.

The aims of this study are: 1) to identify genes that play a role in human pubertal development and reproduction, 2) to characterize the phenotypic spectrum of patients with these gene defects, and 3) to discern the mode of inheritance for disorders caused by these gene defects. We are specifically interested in genes that cause Kallmann syndrome, idiopathic hypogonadotropic hypogonadism (IHH), precocious (early) puberty, and delayed puberty. Individuals do not have to travel to Boston to participate in this study.