Chiari Malformation

Researchers are conducting the GENESIS clinical study to map the HLA genomic region in the Greek population and explore its possible links with various underlying diseases. This non-interventional, multicenter study aims to provide a pilot map of genetic variation in HLA that may be useful in medical research and clinical applications related to selected diseases. The study plans to include 12,000 participants over a total duration of 36 months. Each participant will attend one visit at a participating site during which they will provide demographic data, lifestyle information such as smoking and alcohol use, blood pressure measurements, details on diagnosed diseases and treatments, and recent laboratory test results if available. Buccal swab samples will be collected from each participant to extract DNA for HLA genotyping analysis. Selected samples will undergo further whole genome sequencing to investigate associations with autoimmune diseases. Participants will receive a personalized ancestry report after analysis completion. During the study visit, data collection includes demographic and health information, as well as laboratory and clinical test results from the past year. The genetic material from buccal swabs will be stored and processed for genetic analysis. Researchers will measure allele frequency of HLA alleles in the Greek population and assess the prevalence and risk associations of selected HLA-related diseases. The study's total duration is 36 months with results available at the end of this period.

Researchers are developing a multicenter registry to collect and share data on pediatric patients who have undergone deep brain stimulation (DBS) for movement disorders such as dystonia, epilepsy, Tourette syndrome, and mood disorders. The study aims to improve understanding of DBS safety and effectiveness in children, as current data are limited and individual centers often have too few cases for strong research. This registry will support large-scale analyses and help refine DBS as a treatment option for hyperkinetic movement disorders in the pediatric population. The study involves gathering both retrospective and prospective clinical data from multiple pediatric centers. The registry will collect information on surgical techniques, patient outcomes, implant sites, and long-term effects of DBS. This collaborative data-sharing approach enables comprehensive evaluation of which patients benefit most from DBS and how it impacts their quality of life over time. Participants include children aged 0 to 18 years who have already received or are scheduled to receive DBS for neurological movement disorders. Data will be collected over five years to monitor safety, efficacy, and quality of life outcomes. The study does not involve treatment administration but focuses on gathering and analyzing clinical information. Parental or legal guardian consent is required for prospective participation.

This research aims to evaluate postoperative respiratory complications (PORC) in children with obstructive sleep apnea (OSA) who undergo (adeno)tonsillectomy. It combines data from two centers: University Hospital Antwerp and Heim Pal National Pediatric Institute in Hungary. The study examines how common these complications are and whether they vary according to different health conditions such as obesity, craniofacial malformations, Down syndrome, or neurological disorders that affect airway muscle tone. Data come from a retrospective analysis of electronic health records originally collected in two prospective studies. These records include children who had (adeno)tonsillectomy for OSA, with postoperative care following a set protocol. The study looks at factors like the obstructive apnea-hypopnea index, oxygen levels during sleep studies, age at surgery, and presence of other health conditions to understand their relationship with PORC and to help develop a management plan. Participants' information was collected without needing additional consent because it uses existing anonymized data. Researchers assess the prevalence of PORC within 24 hours after surgery and analyze how different factors affect this risk. This study does not involve new treatments but reviews existing data to improve postoperative care. The study includes children aged 1 to 18 years who had (adeno)tonsillectomy for OSA, with follow-up limited to the immediate postoperative period.

Researchers are investigating epilepsy-dyskinesia syndromes, which are rare genetic diseases causing both movement disorders and epilepsy in children. This multinational retrospective survey, supported by the International Parkinson and Movement Disorder Society, aims to collect detailed clinical and molecular data to better understand these conditions. The study focuses on identifying patterns in disease features, progression, and genetic links to improve knowledge and support precision medicine. The study collects previously recorded data from multiple countries, harmonizing information on clinical features, disease progression, age of onset, genetic variants, and coexisting neurological conditions. By standardizing this data, the survey addresses challenges in rare disease research like small, dispersed patient groups and inconsistent protocols. The goal is to build a shared clinical database and analyze how movement and seizure disorders relate at both clinical and molecular levels. Participants are children aged 0 to 18 years with diagnosed movement disorders linked to specific genetic variants. The study reviews existing medical records and genetic information without new treatments or interventions. Researchers will assess the disease spectrum, how movement disorders affect quality of life, and the effectiveness of symptomatic treatments over one year. The study encourages international collaboration to advance understanding and improve care for these rare conditions.

Researchers are conducting an observational prospective study to build a large-scale multiomic database of adult patients undergoing advanced imaging studies. The study focuses on using recently introduced photon counting CT scanners and high-field 3T MRI scanners to explore latent imaging information, called "opportunist features," which may provide new insights into disease risk and progression. This research aims to improve understanding of pathological mechanisms and enhance diagnostic and prognostic accuracy in fields such as oncology, neurology, pulmonary, and cardiovascular diseases. The study enrolls consecutive adults undergoing advanced imaging examinations at a single center using the Photon Counting CT scanner (Neaotom Alpha, Siemens) and 3T MRI (MR 7700, Philips). Imaging raw data along with conventional images will be stored. Clinical, demographic, and laboratory information, including genetic test results when available, will be collected at enrollment. Blood samples for lab analysis will be taken during contrast media administration when applicable. Annual updates through clinical visits, telehealth, or phone interviews will be conducted to gather follow-up clinical, lab, and imaging data over a 10-year period. Participants will be asked to provide informed consent and undergo routine imaging and clinical assessments as part of their standard care. Data collection includes questionnaires, interviews, and automatic record updates when examinations occur at the study site. Researchers will monitor the development of imaging signatures linked to disease prevention, diagnosis, and treatment. The primary outcome is the creation of a comprehensive multiomics archive to support broad scientific research, with yearly follow-ups for up to 10 years.

Researchers are conducting a prospective, single-arm observational study to collect data from whole-body magnetic resonance imaging (WB-MRI) scans of up to 100,000 adult participants aged 18 and older across multiple clinical sites in the United States. The study aims to evaluate the accuracy of WB-MRI screening in predicting clinically significant diseases, including cancer, metabolic diseases, aneurysms, and neurologic disorders, in people interested in proactive and advanced preventive healthcare. Participants must meet specific inclusion and exclusion criteria to ensure safety and appropriate enrollment. Participants will undergo a whole-body MRI scan as the primary procedure of the study. The study does not involve any treatment but focuses on diagnostic imaging to detect and assess clinically significant diseases. The study plans to follow participants for up to 10 years to monitor and evaluate outcomes related to clinically significant disease diagnoses and oncological findings using established scoring systems such as the ONCO-RADS score. During the study, participants will provide clinical, demographic, and medical history information and complete consent procedures. Researchers will collect and analyze data from the MRI scans and track diagnoses over the follow-up period. The study includes safety monitoring to exclude individuals with contraindicated medical devices or conditions that could pose risks. Participation involves attendance at clinical sites for imaging and data collection, with long-term follow-up to assess health outcomes over up to a decade.

The study focuses on patients admitted to the intensive care unit (ICU), a key part of modern healthcare that provides specialized care for critically ill individuals. It aims to analyze how patient outcomes and mortality rates have changed over time from 1991 to 2026 at the Hospital Universitario Getafe's 18-bed medical-surgical ICU. The research highlights the evolution of intensive care practices, particularly regarding mechanical ventilation and its impact on patient survival. This is an observational study that does not involve specific treatments or interventions. Instead, it reviews data collected over several decades, including changes in ICU management strategies, respiratory support techniques, and other critical care practices. The study covers various outcomes such as use of mechanical ventilation, length of ICU and hospital stay, and complications during ICU admission. Participants will have their medical records and outcomes analyzed retrospectively without additional procedures or interventions. Researchers will measure ICU mortality at 180 days as the primary outcome and also examine hospital mortality, 28-day mortality, mechanical ventilation use, length of stay, and complications over the same period. The study spans from patients admitted since 1991 through to 2026, providing a long-term view of ICU patient care evolution and outcomes.

Researchers are studying how using a supportive soft-robotic glove affects real arm and hand use during daily life for people with hand function limitations caused by trauma-related injuries or neurological conditions. This study follows up on earlier research with previous versions of the robotic glove (Carbonhand) to better understand its therapeutic effects. The study involves 3 to 5 participants and uses a single-case experimental design to observe changes over time. Participants will use the Carbonhand soft-robotic glove at home for six weeks during daily activities that are important to them, supporting the grip of their most affected hand. They can choose which activities and when to use the glove but are encouraged to use it at least 180 minutes per week. The study includes three phases: a baseline phase without the glove, the intervention phase using the glove, and a retention phase without the glove again. Throughout the 12 to 14 weeks of the study, participants will complete about 15 home assessments spread across the three phases. These assessments include wearing activity meters on both wrists during waking hours, performing hand grip strength tests via video calls, and answering questions on hand function and well-being. Additional evaluations involve questionnaires, hand function tests, pain ratings, and interviews. The glove also collects usage data and participants keep a diary during the intervention phase. This thorough monitoring helps researchers measure actual arm activity and other outcomes related to hand use and quality of life.

Researchers are studying how three different therapies—mirror therapy, Repetitive Transcranial Magnetic Stimulation (rTMS), and robot-assisted hand therapy—added to standard neurological rehabilitation affect upper limb function, quality of life, and pain in adults who have had a stroke. Stroke is a major cause of disability and death, and despite advances, recovery of arm function and pain relief remain challenging. This study compares these newer rehabilitation methods to better understand their impact on stroke recovery. Participants will be randomly assigned to one of three groups. All groups receive 20 sessions of conventional neurological rehabilitation over 4 weeks. The first group will also have 20 sessions of mirror therapy focused on the upper limb. The second group will receive 20 sessions of low-frequency rTMS targeting the brain's motor cortex controlling the affected arm. The third group undergoes 20 sessions of robot-assisted hand therapy using the AMADEO device. Each therapy is applied five days per week during the 4-week period. During the study, participants will be evaluated twice—before treatment and at the end of 4 weeks—using various tests and questionnaires assessing arm movement, mental status, spasticity, hand function, pain, mood, sleep quality, and quality of life. Measurements include the Fugl Meyer Upper Extremity Assessment as the primary outcome, along with other scales such as the Brunnstrom Staging, Modified Ashworth Scale, and neuropathic pain assessments. These evaluations aim to capture improvements in function, pain relief, and overall well-being related to each therapy.

Researchers are evaluating how excessive smartphone use affects certain physical aspects in adolescents aged 17 to 19 years. The study focuses on the relationship between smartphone overuse and the craniovertebral angle, cervical muscle endurance, and temporomandibular joint proprioception. This observational research aims to help physiotherapists detect and treat issues caused by prolonged spinal traction from smartphone use. Participants will be observed without receiving any intervention or treatment as this is an observational study. The study assesses body mass index as a primary measure and evaluates the craniovertebral angle, temporomandibular joint proprioception, and deep neck flexor muscle endurance using specialized software and tests at the start of the study. During the study, adolescents will undergo assessments including measurements of body mass index, craniovertebral angle, muscle endurance, and joint proprioception. These evaluations occur at baseline to investigate correlations with smartphone overuse. The study participation involves no treatment, focusing instead on observation and measurement to understand impacts on physical health related to smartphone use.