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NCT ID: NCT06331117 Recruiting - Noonan Syndrome Clinical Trials

Effect of RAS/MAPK Pathway Hyperactivation on Growth' and Bone' Profile of the RASopathies

3776
Start date: April 22, 2021
Phase: N/A
Study type: Interventional

Costello syndrome (CS) and cardio-facio cutaneous syndrome (CFCS) belongs to RASopathies, a group of multisystemic disorders caused by unregulated signalling through the RAS/MAPK pathway, an intracellular signalling pathway regulating multiple processes such as cellular proliferation, differentiation, survival, apoptosis and also contributing to oncogenesis. They share a recognizable facial appearance, aged appearance, growth delay, muscle-skeletal anomalies, heart defects, neuropsychological features, skin and ocular abnormalities, and cancer predisposition. Even though life expectancy of individuals with CS and CFCS has increased in the last years due to the improvement of patients' care and a more effective prevention of comorbidities, some of the most challenging aspects impacting on everyday living such as growth failure, accelerate senescence and skeletal-muscle defects, still need to be fully understood. This statement underlies the need to improve clinical research protocols with more innovative techniques (multi-omics profiling) in order to better understand the effect of RAS/MAPK pathway hyperactivations on different systems and to define possible personalized treatments.

NCT ID: NCT06330350 Recruiting - Quality of Life Clinical Trials

Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling

Start date: January 1, 2024
Phase:
Study type: Observational

The goal of this observational study is to understand the perspectives and needs of patients with genodermatoses and their partners who wish to have children, regarding their decision-making process and their consideration of reproductive options. Additionally, the investigators aim to investigate the level of knowledge and perspectives of healthcare professionals (such as clinical geneticists, dermatologists and other clinicians involved), and want to explore to what extent patients and their partners are well informed about these reproductive options. To achieve this, the investigators will conduct individual semi-structured qualitative interviews with participants affected by genodermatoses (and their partners) and with healthcare professionals.

NCT ID: NCT06328322 Recruiting - Clinical trials for Left Main Coronary Artery Disease With Acute Coronary Syndrome

Study of Percutaneous Coronary Intervention in Left Main Coronary Artery Disease in Patients With Acute Coronary Syndrome at Sohag University Hospitals

Start date: April 1, 2024
Phase:
Study type: Observational

Acute coronary syndromes (ACS) encompass a spectrum of cardiovascular disorders characterized by the sudden onset of myocardial ischemia. They are primarily caused by atherosclerotic plaque rupture or erosion, leading to partial or complete occlusion of the coronary arteries. Among the various coronary arteries affected, left main coronary artery disease (LMCAD) is of particular concern due to its high anatomical significance and potential for adverse outcomes The left main coronary artery (LMCA) is responsible for supplying a substantial portion of the left ventricular myocardium, including the interventricular septum and the anterior and lateral walls. Any obstruction or compromise in blood flow within this critical artery can have severe consequences, including myocardial infarction, heart failure, or even sudden cardiac death. The management of LMCAD associated with ACS represents a significant clinical challenge, necessitating prompt and optimal treatment strategies Among the various coronary arteries affected by atherosclerosis, left main coronary artery disease (LMCAD) holds particular clinical significance due to its anatomical location and the vital role it plays in supplying a substantial portion of the left ventricular myocardium. The left main coronary artery (LMCA) typically bifurcates into the left anterior descending artery (LAD) and the left circumflex artery (LCX), which together provide blood supply to the majority of the left ventricle, including the interventricular septum and the anterior and lateral walls The selection of an appropriate treatment strategy for LMCAD associated with ACS is a complex decision that requires careful consideration of multiple factors, including patient characteristics, coronary anatomy, severity of ischemia, and procedural expertise. The emergence of several clinical trials and observational studies exploring the efficacy and safety of different revascularization strategies has further complicated the decision-making process

NCT ID: NCT06325956 Recruiting - Clinical trials for Polycystic Ovary Syndrome

PCOS Immune Function Predicts Metformin Efficacy

Start date: March 16, 2024
Phase: N/A
Study type: Interventional

In this study, the investigators will include PCOS patients who meet the trial criteria, introduce participants to the content of this study, and invite participants to participate. The immune function of peripheral blood samples of PCOS patients was detected by flow cytometry. Participants were further treated with metformin for 6 months and followed up after the intervention. The objective of this study was to investigate immune markers related to the efficacy of metformin in PCOS patients and to predict the efficacy of metformin in PCOS patients using immune function.

NCT ID: NCT06325631 Recruiting - Clinical trials for Low Back Pain, Mechanical

Comparative Evaluation of the Results of Facet Joint Injections

Start date: January 2, 2023
Phase: N/A
Study type: Interventional

Low back pain affects 60 to 90% of the total population. It is one of the most common causes of disability in adults. Low back pain can be originated from a wide variety of structures, and the facet joint is one of these structures. It is thought that 21 to 41% of low back pain originates from the facet joint. A wide variety of conservative treatments, including intra-articular injections, are used to treat low back pain originating from the facet joint. However, there is still no consensus on the most effective treatment method. With appropriate patient selection, facet joint injections can provide significant improvements in patients' pain scores. After Goldthwait defined the facet joint concept in 1911, Ghormley defined facet joint syndrome in 1933. The source of pain in 40-50% of patients is the lumbar facet joints. Innervation of the lumbar facet joints is provided by the medial branches of the dorsal roots of the spinal nerves. In 1975, Shealy described the coagulation of the articular nerve support of the spinal facet joints with the radiofrequency method. These methods have been further developed over time. The results of facet joint injections are satisfactory in well-selected patient groups. It has been shown that intra-articular steroid injection to the facet joint is superior to systemic steroid use in patients with low back pain. In this study, it was aimed to methodically compare the facet joint injections applied to patients diagnosed with facet syndrome in the outpatient clinic of the Physical Therapy and Rehabilitation Hospital in terms of patient pain scores, application time, effort spent and patient anxiety. Intra-articular injections will be performed under by fluoroscopy or ultrasound guidance or anatomic location.

NCT ID: NCT06325618 Recruiting - Clinical trials for Cardiovascular Diseases

Lymphedema, Low-grade Inflammation and the Vasculature in Turner Syndrome

TSCOR_V
Start date: January 8, 2024
Phase:
Study type: Observational

100 women with karyotype verified TS, previously examined at 4 study visits during a 19-year period will be asked to participate in a 5th study visit. Healthy age-matched females will be included as controls in a ratio 2:1. The aim is to examine and quantify the cardiovascular and lymphatic system in women with TS. The investigators will study a possible causal mechanism between the known pathologic phenotype and alterations in these systems to understand, prevent or treat the life-threatening complications in TS.

NCT ID: NCT06325137 Recruiting - Nephrotic Syndrome Clinical Trials

Transcriptome Analysis in Idiopathic Nephrotic Syndrome: Steroid Responsiveness

Start date: March 16, 2023
Phase:
Study type: Observational

Idiopathic nephrotic syndrome (INS) affects the glomerular barrier by damaging the podocytes with foot process effacement, leading to a pathological increase of permeability and protein loss. INS classification is based on the clinical response to glucocorticoid (GC) therapy. When GCs treatment fails to induce remission in a four-six weeks course, patients are defined as affected with steroid-resistant nephrotic syndrome (SRNS). The whole transcriptome sequencing could consent the INS classification at onset, prior to glucocorticoids (GCs) treatment, allowing to reduction of unuseful GCs treatment. RNA sequencing technologies allow an extensive characterization of the transcriptomic profile and permit global changes in gene expression levels between different conditions such as active and remission of the disease. Of great interest is the research of a molecular biomarker to predict steroid resistance, a predictor that is not yet available. Among the candidate biomarkers, pharmacogenomic determinants are promising, even if available studies are still limited. Among these, some epigenetic factors have been previously suggested. Data obtained in animal models suggests that nucleotide-binding oligomerization domain-like receptors (NOD-like receptor) pyrin domain containing 3 (NLRP3) inflammasome can be deregulated in a wide variety of glomerular diseases, including those causing INS. Another potential marker involved in steroid response is the long noncoding RNA GAS5. Data reported in the literature indicate that abnormal levels of GAS5 in peripheral blood mononuclear cells (PBMCs) may alter steroid effectiveness in autoimmune diseases, such as inflammatory bowel disease. Preliminary findings show that the study of NLRP3 promoter methylation could be reduced in the blood of SRNS compared with steroid-sensitive nephrotic syndrome (SSNS) patients. Moreover, unpublished encouraging results on the association between Growth Arrest Specific 5 (GAS5) expression and steroid response in INS in PBMCs were obtained in a preliminary study conducted on 8 patients with the first episode of INS. PBMCs were obtained and GAS5 gene expression was evaluated using TaqMan technology. Patients affected with SRNS presented significantly higher levels of GAS5 in comparison with the SSNS group. In PBMCs from SRNS patients, the GAS5 expression could reduce the availability for binding to GCs target genes of the activated GCs receptor and suppresses GC transcriptional activity.

NCT ID: NCT06325098 Recruiting - Nephrotic Syndrome Clinical Trials

Implementation of a Diagnostic Workflow for Personalized Diagnosis of Nephrotic Syndrome

Start date: January 26, 2022
Phase: N/A
Study type: Interventional

Nephrotic syndrome (NS) is a clinical picture common to several diseases resulting from damage to podocytes and glomerular filtration barrier. Currently, there is limited consensus regarding the diagnostic pathway and management of the specific etiology. Some patients show complete response to first-line steroid therapy (steroid-sensitive nephrotic syndrome, SSNS), especially in children and young adults. The prognosis of this group is generally favorable. In contrast, patients unresponsive to steroids (steroid-resistant NS, SRNS) frequently undergo immunosuppressive therapies, which are burdened with numerous side effects. Resistance to treatment is associated with a high likelihood of progression to chronic renal disease (CKD) and kidney failure (ESKD). Recent evidence suggests that immunological mechanisms (including permeabilizing factors) are involved in the pathogenesis of post-transplant NS recurrence and SSNS. Providing patients with NS with a correct diagnosis is the cornerstone of personalized medicine, reducing morbidity and side effects of therapies, ensuring their appropriate prescription, and slowing or preventing progression to ESKD.

NCT ID: NCT06324968 Recruiting - Sjogren's Syndrome Clinical Trials

Ro60 Expression in Macrophages in Sjogren's Disease

RoMioSS
Start date: February 9, 2024
Phase: N/A
Study type: Interventional

Context: The Ro60 protein associates with YRNAs (or RNYs) to form the RoRNP complex, which regulates RNA surveillance and maturation. It is hypothesized that its impairment by nuclear penetration of the anti-Ro60 autoantibodies, would deregulate the anti-inflammatory response in monocytes/macrophages (Mo/Mp) in patients with Sjögren's disease (SD).

NCT ID: NCT06324617 Recruiting - Clinical trials for Failed Carpal Tunnel Syndrome Surgery

Treatment of Failed Carpal Tunnel Syndrome by Dorsal Ulnar Artery Perforator Adipofascial Flap

Start date: March 1, 2024
Phase: N/A
Study type: Interventional

Carpal tunnel syndrome (CTS) is the most common compressive neuropathy in the general population. Surgical treatment by open or endoscopic carpal tunnel release (CTR) is the first choice of treatment and has clinical success rates of 75% to 90%.The rate of recurrence after primary median nerve release is 3-19% [1,2]. Between 0.3% and 12% of cases require surgical revision [2,3]. The risk factors for surgical revision for secondary release are male gender, staged or simultaneous bilateral carpal tunnel release, endoscopic release, smoking and rheumatoid arthritis. Treatment failures after primary CTR are classified as persistent CTS, recurrent CTS, or new symptoms. Recurrent symptoms are uncommon and are defined by a symptom-free interval after surgery. Persistent symptoms are relatively common, particularly in elderly patients and in patients with concurrent nerve compression or medical conditions that affect nerve function, such as diabetes. Persistent or recurrent CTS principally results from incomplete release of the transverse carpal ligament but may be accompanied by perineural scarring, leading to compression or tethering of the median nerve. New symptoms may be caused by iatrogenic nerve injury. Surgical treatment of recurrent or persistent CTS after primary CTR usually involves open revision CTR, extended proximally into unscarred tissue, and has also included internal or external neurolysis. Unsatisfactory results following revision CTR are common. A second compression site, or double-crush syndrome, may clinically present as RCTS or PCTS . Thorough preoperative clinical examination may uncover signs of a second compression site, which can then be confirmed on electroneuromyography (ENMG) of the entire arm. To improve outcomes of revision CTR, recent studies have emphasized the importance of median nerve coverage by well-vascularized soft tissue to enhance nerve healing, to prevent tethering in surrounding scar tissue, and to optimize nerve gliding in the carpal tunnel. Several local flaps (hypothenar fat pad flap, tenosynovial flap), regional flaps (posterior interosseous artery flap, reverse radial artery fascial flap, flexor digitorum superficialis flap), and free flap techniques have been described, but consensus for specific flap has not been reached. Following potential iatrogenic median nerve injury and reexploration for a painful neuroma incontinuity, flap coverage may also be beneficial. In 1988, Becker and Gilbert introduced a Fasciocutaneous pedicled flap based on a consistent dorsal perforator of the ulnar artery (absent in 1 % of population) named the dorsal ulnar artery (DUA) flap or simply the Becker flap. The authors described open revision CTR with nerve coverage by a DUA flap in 3 patients with recurrent CTS and reported good results as well as a quick and easy-to-perform dissection with low donor site morbidity and preservation of the radial andulnar artery. Since this introduction, additional studies describing fasciocutaneous DUA flaps have mostly focused on its use for reconstruction of hand or wrist wounds. Despite the original described benefits, additional studies of DUA flaps for the treatment of recurrent or persistent CTS have remained limited.