View clinical trials related to Syndrome.
Filter by:The purpose of this study is to investigate the effect of six-week thoracic mobilization on pain intensity, muscle tone, functional and muscle activation in individuals with subacromial pain syndrome.
Dravet syndrome is characterized as a developmental encephalopathy resulting from mutations of SCN1A, the gene encoding the alpha subunit of the voltage-gated sodium channel Nav1.1. The syndrome typically presents with drug-resistant epilepsy and varying degrees of cognitive disorders. Current treatment efficacy may be hindered by insufficient knowledge of undiscovered molecular determinants of the disease and its heterogeneous nature. Utilizing induced pluripotent stem cells (iPSCs) derived from skin biopsies, accessibility to patients' brain neurons has enabled successful modeling of various genetic neurological diseases. Neurons and brain organoids will be obtained from Dravet syndrome patients exhibiting diverse phenotypic severities, encompassing behavioral and developmental delays, to discern the molecular determinants of phenotypic diversity. Specifically, emphasis will be placed on investigating cellular and molecular mechanisms linking altered neuronal excitability with synaptic dysfunction.The study will focus on exploring the expression of newly identified modifiers potentially associated with neuronal excitability and synaptic function in iPSC-derived human neurons. This aims to establish correlations between the severity of epileptic and cognitive phenotypes and the altered expression of these proteins, whose functions are not fully understood.In the mid to long term, efforts will be directed towards overcoming the limitations of conventional therapeutic approaches for Dravet syndrome. This will involve attempting to reverse the observed morphological and functional alterations in Dravet syndrome neurons using viral vectors to promote overexpression/downregulation of identified modifiers correlated with disease severity. The anticipated outcomes of this project are expected to unveil novel molecular mechanisms underlying the pathophysiology of this severe neurogenetic disease, characterized by varying degrees of cognitive impairment. Moreover, these findings may pave the way for the discovery of innovative therapeutic strategies.
This observational, prospective data collection is designed to evaluate the effectiveness and stimulation coverage of closed-loop spinal cord stimulation (CL-SCS) therapy in patients with cervical lead placement.
The goal of this observational study is to learn about the indications for prenatal diagnostics and preimplantation genetic testing for patients/couples affected by an inherited skin disease, and evaluate the clinical outcomes of these reproductive options. By providing a complete overview, the investigators aim to improve reproductive counselling for these patients/couples with a desire to have children. To achieve this, the investigators aim to retrospectively collect data from a cohort of patiens/couples affected by an inherited skin disease on a national level (in the Netherlands) and also an international level from various countries in Europe.
The aim of the study is to evaluate the efficacy of home treatment with a postbiotic-based gel for the management of periodontal inflammation in patients with Down syndrome. Patients will be enrolled at the S.C. Odontostomatologia dell'Azienda Ospedaliera "Ordine Mauriziano di Torino", Turin, Italy. After the collection of the periodontal clinical indexes (BoP%, PCR%, dental mobility, mMGI, compliance and satisfaction questionnaire), patients will undergo a professional mechanical debridement with ultrasonic instruments and glycine powders. Then, they will be randomly divided into two groups according to the home treatment: - in the Trial group Biorepair Plus Parodontgel Intensive (containing microRepair®, hyaluronic acid, Lactobacillus Ferment and Aloe Barbadensis Leaf Juice Powder) will be used once a day for all the duration of the study - in the Control group, a placebo gel without (active ingredients) will be used once a day for all the duration of the study. Indexes will be re-evaluated after 1 (T1), 3 (T2) and 6 months. The professional mechanical debridement will be performed again at T3 timepoint.
The research project consists of an observational study. Obstructive Sleep Apnea (OSA) is a condition characterized by recurrent episodes of upper airway collapse during sleep, leading to decreased blood oxygen levels and disruptions of normal sleep patterns. Estimates of its prevalence vary, but its impact on patients' quality of life is evident. The research aims to explore the perception and awareness of the disease and its impact on the individual and couple's lives of patients with OSA and their bed partners, to assess patients' perceptions of the disease and symptoms, as well as their bed partners' perceptions. Moreover, psychological aspects of living with OSA, such as perceived stress, depression, anxiety, sleep quality, daily sleepiness will be studied to observe the association with Continuous Positive Airway Pressure (CPAP) adherence.
Short bowel syndrome (SBS) is a rare but challenging condition in which patients have insufficient bowel length to meet fluid, electrolyte, and nutrient requirements without parenteral support. The purpose of this study is to determine how well dietary fiber is tolerated in patients with short bowel syndrome compared to patients without short bowel syndrome based on assessment of gastrointestinal symptoms, and corresponding changes in microbiome composition and metabolomics.
The effectiveness of various external applications (strapping and splinting) on grip strength, pain intensity, symptom level, and functional status in carpal tunnel syndrome (CTS) has been compared in this study. Comparative testing was conducted with exercise and mobilization applications (carpal bone mobilization, yoga, tendon and nerve gliding exercises, neurodynamic mobilization, instrument-assisted soft tissue massage, and standard soft tissue massage) in control groups, placebo groups, and groups undergoing other non-surgical treatments (orthotic application, steroid injections, and other physical agents). Criticisms regarding these studies include bias, lack of blinding, and small intergroup differences. In the literature, evidence supporting the beneficial effects of splinting and strapping applications on CTS is reported to be of low quality, emphasizing the need for higher-quality studies. In light of the information obtained, this study aims to compare the effects of different external applications (strapping and splinting) on grip strength, pain intensity, symptom level, and functional status in CTS.
This observational multicenter study aims to evaluate the reliability and validity of the e-tool for selecting patients eligible for SCS for chronic pain caused by one of the four etiologies listed above in the experience of daily clinical practice. The implantation procedure and devices used will be those used in the routine clinical practice of participating centers. Since the study is observational, the use of the e-tool will not replace the routine medical and psychological evaluation in participating centers before SCS implantation. Study Objectives: Primary Objective: Evaluate the degree of agreement/disagreement between the physicians opinion and the e-tool in selecting patients eligible for spinal cord stimulation for chronic pain. Endpoint: Calculation of the probability of disagreement (πD) between the e-tool and the physicians opinion regarding the appropriateness of the intervention. Secondary Objective: Evaluate the ability of the e-tool to classify interventions defined as appropriate and highly likely to succeed; (scores 7-9) at 3 different time points: trial, 6-month follow-up, and 12-month follow-up. The proportion of interventions that were successful at the trial implantation in different time points will be compared with the proportion of interventions identified as appropriate and highly likely to succeed by the e-tool. Study Period: 24 months. 12 months of enrollment + 12 months of follow-up. Subjects: Number of subjects to be included: at least 60 (total divided between the two centers) Participating Centers: - Pain Therapy Unit - ICSMaugeri, Pavia - Anesthesia and Pain Therapy SD - Azienda Ospedaliero Universitaria Pisana Pisa
A prospective observational cohort trial to study the effects of CGRP inhibitors (CGRPi) on lower urinary tract symptoms (LUTS) and bladder/pelvic pain. Candidates for either CGRPi or an alternative therapy for refractory migraines (OnabotulinumtoxinA (BoNTA) extracranial muscle injections) with baseline LUTS will be recruited. The investigators will assess LUTS and pelvic pain using validated symptom and quality-of-life questionnaires, pretreatment and at 3 months post-treatment follow-up, comparing change in symptoms based on treatment received.