View clinical trials related to Congenital Abnormalities.
Filter by:The goal of this observational study is to examine and confirm the clinical performance of the Fitbone Transport and Lengthening System in adult patients (21 years and older) who require lower-limb lengthening, fracture fixation and/or treatment for previous non-healing fracture. The main questions it aims to answer are: 1. Are their any unanticipated safety issues with the product when used in a real-world setting? 2. Does the product provide the anticipated clinical benefit when used in a real-world setting? Participants will have been selected by their physician to be treated with the Fitbone Transport and Lengthening System as part of treatment for their condition or injury. All procedures will be according to the physician's standard care practices. There are no study-specific procedures or requirements for participants in this study.
This study aims to analyze the fatty tissue architecture of the subcutaneous tissue in patients from the plastic surgery department. Plastic surgery patients show a wide variety of subcutaneous fatty tissue structures during clinical examination. These include patients with edema of the extremities such as lipedema or lymphedema. Fatty tissue architecture plays a major role in our everyday lives, as wound healing and scar formation, for example, are influenced by the blood flow to the overlying skin. The fatty tissue architecture, especially in the subcutaneous fatty tissue, also plays a major role in our appearance. An analysis of the architecture can potentially provide information about the genesis of different skin fold formations. The aim of this study is to quantitatively describe structural differences in adipose tissue architecture. Adipose tissue architecture is still a largely unexplored area because imaging has not been possible to date. MSOT imaging is similar to conventional sonography in that a transducer is placed on the skin and energy is supplied to the tissue by pulsed laser light instead of sound. On a macroscopic level, this leads to a constant change of minimal oscillations of individual tissue components. The resulting sound waves can then be detected by the same transducer. Previous studies have shown that the quantitative determination of hemoglobin can be used to obtain information on blood circulation and inflammatory activity. In the extended spectrum, in contrast, not only hemoglobin and its oxygenation stages but also other biomarkers such as collagens and lipids can be detected. This is very useful for imaging of fat, lymphatics and normal and abnormal blood vessels in vascular malformations. This process was largely researched by the working group of Prof. Ntziachristos (Helmholtz Center Munich and Technical University of Munich) and Prof. Razansky (Eidgenösische Technische Hochschule Zurich) and is being further developed into a clinically applicable technology and sold commercially by the company iThera. As a first series of demonstrative clinical studies following rigorous technical development, MSOT will serve as a key tool for research partners in the investigation of several diseases that remain poorly-understood and have limited treatment options. These parallel studies will focus on lipedema and lymphedema as well as vascular malformations - three distinct disease groups with similarly unmet clinical needs for appropriate imaging modalities and high potential of translation to further major disease areas. By focusing on two unrelated diseases, this project will show the wide-reaching application of this innovative imaging approach. Following successful proof-of-principle validation in a clinical research environment, full exploitation and dissemination of the results will strive to deliver MSOT to the greater scientific community. The main objectives are to confirm/validate the spectral profile of fat and vasculature on MSOT in lipedema patients, to establish the spectral profile of vascular malformations based on MSOT for adults and children and to establish the spectral profile and imaging of lymphatic vessels. With a detailed analysis of the architecture, our understanding of the physiology and pathology of the skin may be enhanced.
Pectus deformities are among the most common anterior chest wall pathologies. Pectus excavatum is the most common chest deformity with an incidence of 0.1-0.3%. In severe deformities, a decrease in lung volume is observed. This can cause decreased pulmonary function and affect the function of the right ventricle. The diaphragm is the main respiratory muscle, and diaphragm contraction is associated with respiratory functions. So, investigators aimed to measure diaphragmatic thickness in adolescents with pectus deformity and to show whether diaphragmatic thickness is an early predictor of respiratory disorder in participants who do not show any clinical symptoms or whose respiratory functions are normal.
Delineate coronary artery anatomy and detection of coronary anomalies in children with complex cardiac anomalies by cardiac CT-angiography before total surgical correction.
Virtual Surgical Planning (VSP), Computer-Aided Surgical Simulation (CASS) for bone corrections, and the customization of implants and devices through 3D printing, known as Patient-Specific Instruments (PSI) and Graft-Specific Instruments (GSI), are assuming increasingly central roles in orthopedic clinical and surgical practice. One area witnessing notable advancement is the treatment of musculoskeletal disorders (MMS) in children, adolescents, and young adults. These disorders involve severe and rare abnormalities in skeletal formation and development across three-dimensional planes, often affecting multiple limbs. Managing such deformities is complex, challenging to standardize, and prone to unpredictable clinical, radiographic, and functional outcomes. The application of 3D modeling and printing technologies offers a deeper understanding of deformities and facilitates improved prediction, precision, reproducibility, and safety in surgical interventions. The Musculoskeletal Apparatus Network (RAMS Network) centers are equipped with advanced 3D laboratories for surgical simulation and planning, aligned with the overarching goal of improving surgery quality through "in-silico" medicine (ISM) principles. At present, numerous complex surgeries involving Virtual Surgical Planning (VSP) and sterilizable 3D-printed Patient-Specific Instruments (PSI) and/or Graft-Specific Instruments (GSI) are being simulated and performed at the Rizzoli Institute. Preliminary data from previous protocols indicate a significant reduction in surgical time with the implementation of VSP and the utilization of PSI and GSI. The aim of this study is to enhance the current process of simulating, planning, and designing surgical support tools within 3D Printing Point-of-Care (3D POC) facilities. To achieve this, it is imperative to expand case volumes and systematically organize, categorize, and standardize simulation and planning procedures.
This study aims to investigate the maternal effects of membrane stripping during vaginal birth. This study was designed as an experimental case-control study. The sample size in the study was determined by Njoku et al in 2023 to assess the effectiveness of membrane stripping applied to participants who had vaginal birth in reducing the incidence of prolonged pregnancy. Calculated based on the study conducted by. The sample size of the study was calculated using G*Power 3.1.9.2, and the mean and standard deviation of the Bishop score in the relevant article were used to calculate the effect size. Using the mean and standard deviation of the relevant article, the blended effect size was calculated as 0.596. The minimum number of individuals that should be included in the sample of this research was calculated using G*Power 3.1.9.2, effect size: 0.596, α= 0.05, power: 0.95 (stripping = 70, control = 70) and at least in each group in the sample size. The sample size was set at 70 participants. The research data will be collected by the researcher using the Informed Volunteer Consent Form, Participant Information Form, Bishop Scoring, Visual Analogue Scale, and Birth Satisfaction Scale Short Form, which were created by the researcher within the framework of the literature on the subject.
Results of the application of 100 sessions of tDCS for 12 months in children between 6 and 11 years old with autism spectrum disorder with rare diseases, genetic problems or PANDAS
The aim of this study is to investigate the effects of Schroth exercises and kinesiological taping on spinal deformities and serum markers in young adults with scoliosis. The study will include young adults aged 18-21 with scoliosis. A total of 57 participants will be included in the study. Out of 57 participants, 38 have scoliosis, and 19 are healthy. 38 participants will be randomly divided into 2 groups. One group (n=19) will receive only Schroth exercises, and the other group (n=19) will receive both Schroth exercises and kinesiological taping. The laboratory analyses of proteins associated with autophagy (Beclin-1, LC3, and ATG3) and bone-cartilage metabolism (COMP and MMP-3) will be conducted in the Biomedical Engineering Laboratory of our university. Trunk rotation will be assessed using the Adams Forward Bend Test with scoliometer, quality of life will be evaluated with the SRS-22 Quality of Life questionnaire and Quality of life profile for spinal deformities questionnaire, perception of deformity will be measured using the Walter Reed Visual Assessment Scale, and Cobb angles will be evaluated from anterior-posterior X-ray images.
Overweight and obesity are increasingly prevalent worldwide. Weight excess increases the risk of in developing the metabolic syndrome, which is composed by a set of cardiometabolic risk factors such as abdominal adiposity, dyslipidemia, high blood pressure and elevated fasting glucose levels. Obesity and the metabolic syndrome are known to be risk factors for the development of chronic kidney disease. It is not clear however, whether they can be considered independent risk factors for impaired renal function and renal damage. Whereas obesity may represent an independent risk factor for renal damage, it is not clear yet if the contemporaneous presence of obesity and metabolic alterations is associated with an additional increase in the risk. It may be important to understand the relationship between obesity, metabolic syndrome and renal health, as treatment strategies may be different for the two metabolic phenotypes of obesity, i.e., metabolically healthy obese (MHO) and metabolically unhealthy obese (MUO) patients. The primary objective of this multicentre observational prospective study is to assess the relationship between metabolic phenotype and reduced renal function (glomerular filtration rate <90 ml/min/1.73m2 or microalbuminuria 30-300 mg/24h) in a population of 1000 patients with overweight or obesity. The secondary aim is to study the association between diet quality, consumption of ultra-processed foods and indicators of reduced renal function and renal damage.
The goal of this observational study is to study the genetic landscape in patients with Plasma Cell Disorders including MGUS, SMM, MM, and amyloidosis in Thailand. The main questions it aims to answer are: - genetic landscape in patients with Plasma Cell Disorders including MGUS, SMM, MM, and amyloidosis in Thailand who were performed FISH and/or NGS testing - genetic correlation and genetic dependency between FISH and NGS, stratified by high- and standard-risk groups based on FISH testing in Thai MM patients. - disease characteristics and response rates in MM patients with cytogenetic abnormalities detected by FISH and/or genetic mutations detected by NGS. - correlation between cytogenetic abnormalities identified by FISH and genetic mutations detected by NGS with progression-free survival in MM patients. The FISH and/or NGS testing results, disease characteristics, treatment, and treatment outcomes of patients with plasma cell disorders who underwent FISH and/or NGS testing before IRB approval will be collected through retrospective chart review. Subsequently, data will be gathered prospectively. Participants will provide approximately 12 mL of bone marrow fluid for FISH and NGS testing.