View clinical trials related to Syndrome.
Filter by:To compare the effectiveness of ultrasound guided-steroid injection plus splinting to that of steroid injection alone using clinical and electrophysiological parameters in patients with carpal tunnel syndrome
Feasibility study to randomize non-vigorous newborn infants born through meconium-stained amniotic fluid to endotracheal suctioning or immediate resuscitation.
Patellofemoral Pain Syndrome (PFPS), also known as the anterior knee pain, is one of the most common musculoskeletal disorders. Most of the patients suffer from knee pain for long time. The aim of this study was to investigate the short-term effects of Mobilization with movement and Kinesiotaping on pain, function and balance in patient with PFPS.
This is a phase 1/2 study to evaluate the combination of vadastuximab talirine (SGN-CD33A; 33A) and azacitidine in subjects with previously untreated International Prognostic Scoring System (IPSS) Intermediate-2 or high risk myelodysplastic syndrome (MDS).
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.
Multi-center, open-label, long-term safety study
Barthel Index and demographic variables of patients were collected to investigate the question whether the improvements of the functionality improves the Barthel Index over the years.
Once participants have been recruited, their grip strength shall be tested and they will all complete baseline questionnaires to assess functional status and symptom severity. Following the recruitment stage, participants will be asked to attend Medway Maritime Hospital once a week for four weeks, to receive the massage protocol. At the first session participants shall be asked to rate their pain (NPRS), before receiving a massage treatment. This will be followed by instructions on how to perform self-massage, which they will be asked to complete daily over the four-week period, and record in a diary. At the remaining three sessions, participants shall just complete the NPRS prior to receiving the massage treatment. After four weeks the group will be reassessed at the same Orthopaedic Clinic they attended prior to recruitment. They will be asked to complete a final pain score, record any changes in their condition, repeat the initial symptom questionnaire, and finally preform a grip strength test. The duration of four weeks was chosen as this is the time-frame within which the specific massage protocol advises a 'significant symptom improvement' should be seen.
The overarching purpose of this study is to advance understanding of the natural history of Rett syndrome (RTT), MECP2-duplication disorder (MECP2 Dup), RTT-related disorders including CDKL5, FOXG1, and individuals with MECP2 mutations who do not have RTT. Although all these disorders are the result of specific genetic changes, there remains broad clinical variation that is not entirely accounted for by known biological factors. Additionally, clinical investigators currently do not have any biomarkers of disease status, clinical severity, or responsiveness to therapeutic intervention. To address these issues, biological materials (DNA, RNA, plasma, cell lines) will be collected from affected individuals and in some cases from unaffected family members, initial evaluation performed to identify additional biological factors contributing to disease severity, and these materials will be stored for future characterization.
This randomised prospective controlled trial will investigate patients with impingement syndrome who undergo arthroscopic subacromial decompression. The intervention group will receive physiotherapy aided by automated sensor-based technology which will help them perform exergames and track their rehabilitation progress. The control group will be treated by standard physiotherapy protocols. The two groups will be compared using patient reported outcome measures and assessment of shoulder range of movement before and after the shoulder surgery. Data will be collected on patient experience, engagement with the rehabilitation process and the usability of the sensor-based technology through the use exergames. This will guide development of methods to quantify patient activation and engagement. Hypothesis: 1. There will be a significant clinical difference in post-surgical improvement measured by patient reported outcomes when physiotherapy is aided by automated sensor-based technology to perform Exergames and track progress, compared to standard physiotherapy protocols. 2. There will be a significant difference in post-surgical improvement in range of shoulder movement and patient improvement, measured by patient reported out-comes when physiotherapy is aided by automated sensor-based technology to perform exergames and track progress, compared to standard physiotherapy protocols.