View clinical trials related to Constriction, Pathologic.
Filter by:Williams syndrome is a rare genetic disorder occurring in 1:8000-12,000 individuals. It is caused by the deletion of 25-27 coding genes, including elastin (ELN) on the 7th human chromosome. Haploinsufficiency for these genes leads to the features of the condition, including: - Distinctive facial features; - Characteristic vascular problems including hypertension, focal vascular stenosis, (when present in the aorta this is referred to as SVAS), vascular stiffness and differences in heart rate variability; - Endocrine abnormalities including hypercalcemia, hypothyroidism, and early puberty; - Metabolic concerns with colic and failure to gain weight in infancy and obesity and early glucose intolerance in adulthood; - Characteristic neurocognitive profile comprised of cognitive impairment, high sociality with concurrent social awkwardness, difficulty with visual-spatial tasks, relative strengths in speech, and lack of social fear; - Anxiety and chronic pain in adulthood Most individuals with WS carry the same basic deletion on Chromosome 7q11.23. However, each feature may present as mild or more severe in any given individual. Variation in the presence and severity of these vascular phenotypes remains unexplained. The supravalvar aortic stenosis (SVAS) phenotype is caused by haploinsufficiency for elastin. This can come about due to the WS deletion (as above) or due to heterozygous variation in elastin (ELN) gene itself in this region. When this protein is reduced, connective tissues lose its strength, flexibility, and overall support. When this happens in the aorta, it may cause vascular narrowing that presents as shortness of breath, chest pain, and even heart failure if left untreated. Narrowing also occurs in other vessels especially the pulmonary and renal arteries. Changes in non-vascular elastic tissues such as the skin and lungs also occur. As in WBS, phenotypic variation also occurs in people with ELN gene changes--This variability remains unexplained despite all the on-going research. Most individuals with features of SVAS have either WS or an elastin variant. There are, however, a smaller number of individuals with the phenotypic features of the condition whose genetic underpinnings are yet to be defined (they are referred to as SVAS-like). Additionally, there are 26 other coding genes within the WS critical region that contribute to various other features of the condition Objective: 1. To collect historical information and to bank DNA, cells, and tissue from individuals with genetic alterations in the WS/ELN gene region, those with an SVAS -like phenotype and unaffected family members/controls to facilitate future research into the many phenotypes seen in these individuals. 2. Currently, we plan to use the collected samples to identify genetic and environmental factors that contribute to the variability in different phenotypes (vascular and non-vascular) in individuals with WS, SVAS and SVAS-like conditions, individuals with variation in WS genes other than elastin and unaffected family members and controls. For the non-vascular features of WS and SVAS-like conditions for which a specific gene has not been implicated in the disease, we would also like to identify causative genes as well as modifiers. Likewise, by evaluating people with variation in other WS region genes, we can determine what contribution those genes make to the studied phenotypes. Controls will be both used to assess the frequency of genetic features in people without the phenotype in question and to evaluate heritability, penetrance, and expressivity of relevant variants. Eligibility: People ages 0-85 with either WS, SVAS, and/or an SVAS-like condition, unaffected family members or adult unrelated controls. Design: This study is not a treatment protocol. This study will consist of: Collection of personal history (questionnaires) and medical record data (relevant physician notes, lab and diagnostic tests and studies) to study the natural history of these conditions, allow stratification of disease severity, and identification of environmental risk factors; Collection of blood, saliva, urine and surgical tissue waste to allow DNA and RNA preparation as well as study of tissues both in situ and through the generation of IPSCs; Expression studies on available tissues (lymphocytes, IPSCs, vascular, skin, other collected tissues) to look for differential regulation of target genes; Direct imaging of tissues (lymphocytes, IPSCs, vascular, skin, other collected tissues); Storage of collected data and specimens for future research; A questionnaire may be sent to participants or parent/guardian or LAR to respond on behalf of participant.
This study is safety and proof-of-concept study for oral prednisolone in the treatment of esophageal stricture after esophageal surgery. The patients who develop the severe esophageal strictures from 28 days after esophageal surgery are included. Primary outcomes are Safety and Success rate of this treatment.
Crohn's disease （CD） with stenosis has limited therapeutic options and with high surgical rate. The present clinical trial aims to evaluate the efficacy and safety of rapamycin in the treatment of stricturing Crohn's Disease.
The studied pathology concerns post traumatic cervical spinal cord contusion on narrow spinal canal. The pathophysiology remains controversial. This pathology does not enjoy consensus support. Many questions remain regarding the surgical care and its delay. The purpose of the study was to demonstrate non-inferiority of early surgical treatment compared to the same surgery performed with a delay among patients identified as having a cervical spinal cord contusion on posttraumatic narrowed cervical canal. In the current state of knowledge and practices, the treatment of post traumatic spinal cord contusions on narrow spinal canal spinal decompression is performed remote diagnosis. The generally accepted delay is 15 days. The surgical technique is a conventional cervical spinal decompression surgery. The type of decompression (anterior or posterior) is dependent on the compression and therefore the clinical radiological analysis. The choice of the technique and the surgical approach are therefore left to the discretion of the surgeon. After completion of the clinical and radiological diagnosis of post-traumatic spinal cord contusion on narrow spinal canal, the patient was hospitalized in intensive care or in the Neurosurgery Service of the University Hospital concerned. After anesthetic consultation determining the feasibility or not of surgery and in the absence of other vital injury or involving life-threatening, early surgery within 48 hours of diagnosis is then considered (according to the assigned group). The surgical technique is a conventional cervical spinal decompression surgery. Way posterior surgery, laminectomy for spinal stenosis significant if greater than or equal to 3 floors will be preferred. In other cases, the type of surgery will be at the discretion of the surgeon and the opinion of the Staff Neurosurgery. The surgical procedure is identical in the two groups. Alone, the delay of the surgery varies : less than 48 hours for the first group and 15 days for the second. During the different monitoring visits (D0 (surgery), D7, M3, Y1 and Y2), the following criteria will be assessed : the quality and quickness of the motor and sensory recovery, the early post-operative evolution and the long and medium term evolution but also disability and functional sequelaes.
Many cardiologists are convinced that early surgery in asymptomatic aortic stenosis (AS) saves lives. However there is currently no direct evidence for this and most recommendations from the ESC/ EACTS or ACC/ AHA in this field are supported by Level-B or C evidence. Therefore, the investigators designed a randomized controlled trial to demonstrate whether early surgery improves mortality and morbidity of patients with asymptomatic severe AS and low operative risk.
Percutaneous Extraforaminotomy using BS extraforamonotomy kit(BioSpine Co.,Ltd, Seoul, South Korea), was performed in patients who did not show improvement lasting more than 1 month after diagnostic conventional fluoroscopically guided transforaminal epidural block with local anesthetic and steroid. Numeric rating scale(NRS) pain score, Oswestry disability index (ODI), Roland-Morris Disability Questionnaire (RDQ), claudication distance(CD) was checked before and after the procedure.
A 2 and 5 year evaluation of clinical outcomes in the treatment of degenerative spinal stenosis with concomitant low back pain by decompression with additional stabilization using the coflex® Interlaminar Technology for FDA Actual Conditions of Use Study.
The primary objective of the study will be to determine whether remote limb ischemic conditioning (RLIC) compared with sham RLIC (placebo) treatment reduces the 12-month risk of recurrent IS in patients with a recent TIA or IS caused by stenosis of a major intracranial artery. After screening period, eligible patients will be randomly allocated into 2 groups. In addition, all participants receive an usual clinical therapy.
The purpose of the research is to understand structural plaque abnormalities that make a carotid plaque unstable and brake off (embolize) which would help to predict and treat individuals who are likely to suffer not only classic episodic major strokes but also cognitive impairment.
TASS-2 (Tyrolean Aortic Stenosis Study-2) aims to characterize the clinical value of minimally elevated troponin T plasma levels both in patients with asymptomatic and symtomatic aortic stenosis.