View clinical trials related to Congenital Abnormalities.
Filter by:Pronation distortion syndrome is one of the most common abnormalities in the lower extremity that causes alterations in the structures of the skeletal parts of the foot. The aim of the study will be to compare the effects of intrinsic foot muscle with and without hip abductor muscle strengthening on pain and functional mobility in patients with Pronation Distortion Syndrome.
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.
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.
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.
Review of surgical outcomes of patient who have undergone surgery for uterovaginal anomalies. Case notes of patients would be reviewed and data would be gathered for statistical analysis.
The goal of this clinical study is to develop a specialized rehabilitation exercise protocol designed for patients diagnosed with foot pathologies and calf muscle shortening, regardless of their choice to undergo minimally invasive ultrasound-guided surgery. The primary focus is to assess disparities in outcomes, particularly in the recovery of ankle mobility degrees. Additionally, for patients opting for minimally invasive ultrasound-guided surgery, the study aims to evaluate the resumption of both sporting activities and daily routines using the aforementioned specific rehabilitation protocol. The primary questions this study aims to answer are: - How does the proposed rehabilitation protocol impact ankle mobility recovery for patients with foot pathologies and calf muscle shortening? - What are the differences observed in the return to sporting activities and daily life among patients undergoing minimally invasive ultrasound-guided surgery, following the prescribed protocol? Participants enrolled in this study will be engaged in: Undertaking the specified rehabilitation exercises tailored for foot pathologies and calf muscle shortening. Those opting for minimally invasive ultrasound-guided surgery will follow the same rehabilitation protocol post-surgery to assess its impact on their return to normal activities. If there exists a comparison group: Researchers will compare participants who undergo minimally invasive ultrasound-guided surgery against those who choose other treatment options to discern any differential effects on ankle mobility recovery and resumption of activities.
The goal of this prospective randomized controlled study is to explore the role of indocyanine green-fluorescence imaging in management of cystic lymphatic malformation.. To clarify the application value of indocyanine green-fluorescence imaging in both diagnosis and treatment of cystic lymphatic malformation (cLM) in children, is helpful for exploring pathogenesis of cLM, and providing a clearer scientific basis for subsequent surgical intervention. It also provides alternative for the future diagnosis and treatment of cLM. Participants will receive indocyanine green-fluorescence imaging before operation, while the patients in control group will receive traditional operation. Researchers will compare difference in curative effect between two groups.
The Comprehensive HHT Outcomes Registry of the United States (CHORUS) is an observational registry of patients diagnosed with Hereditary Hemorrhagic Telangiectasia (HHT). The purpose of this study is to better understand HHT, the symptoms and complications it causes, and the impact the disease has on people's lives. The investigators will collect long-term information about the participant, allowing us to understand how the disease changes over time, and what factors can influence those changes. Ultimately, this should help improve treatments for the disease. Another important goal of the study is to provide a way to contact people to participate in future clinical trials and other research. The registry will be a centralized resource for recruitment for clinical trials. People in the registry will not be obligated to join any of these additional studies, but if interested, can agree to be contacted if they may be eligible for a study. Participants will: - Be asked to provide permission to collect information from their medical records, including things like demographic information, diagnosis information, family history, test results, treatment information, symptoms, complications, lifestyle and other relevant medical information. - Be asked study-related questions by phone or at a clinic visit. - Be asked study-related questions every year after enrollment for up to 10 years or until the study ends. A member of the study team will communicate with participants by phone or at clinic visits to collect information regarding any changes to their health over the previous year/s including new test results, treatment information, symptoms, and complications from HHT.
The management of congenital malformations (3% of pregnancies) by prenatal ultrasound represents a real medical challenge. Their prognosis is variable depending on the underlying aetiology. In France, prenatal diagnosis (PND) has long been based on imaging or infectious, metabolic, immunological or genetic investigations (karyotype, chromosomal microarray (CMA) and sequencing of targeted genes in some cases). About 70% of foetuses remain without an etiological diagnosis after these investigations. Exome (ES) and genome sequencing (GS) has revolutionized medical genetics, with a postnatal diagnostic rate of more than 40% for developmental disorders in the absence of clinical orientation and/or after a negative standard workup. In PND, trio-ES has been progressively introduced in several countries in a diagnostic approach to refine the prognosis and help couples to make decisions regarding the current pregnancy, but also for the subsequent family planning/counselling. However, the delay in the return of results, 3 to 4 weeks on average, is long for couples. Also, ES cannot detect some variants, like structural variants, accessible to GS, that may lead to additional diagnosis in 5 to 10% of cases. Since 2013, the FHU TRANSLAD has been transferring ES in diagnosis for patients with rare diseases with developmental anomalies, by deploying different pilot projects. In PND, our team was the first in France to propose a national research project, AnDDI-Prenatome, supported by the AnDDI-Rares health network, to evaluate the feasibility of analyzing ES and delivering results in less than 4 weeks in the context of congenital malformations (PMID:37035737). The teams were able to demonstrate the feasibility of prenatal ES implementation, with on overall diagnostic yield of 41% (37/89) when ES was used as a first-line test and 31% (19/61) when used after a normal CMA. This experience has enabled the implementation of ES in routine diagnosis, with an offer for the French hospitals. Our team now coordinates the DPNI-Exome trial (interregional PHRC; NCT05182242), comparing non-invasive and invasive approaches for fetal ES in PND when foetal ultrasound signs are discovered. Our team now wishes to evaluate the diagnostic yield and the percentage of results delivery in less than 7 days of rapid trio-GS in case of ultrasound signs, to reduce the delay of results, but also possibly increase the rate of PND. In addition, information concerning the efficiency of rapid trio-GS as well as technical hurdles associated with its implementation will permit the development of national guidelines. This is a question of outmost importance from an international scientific point of view because currently only six publications have proposed the use of the rapid prenatal GS, while around seventy studies report an experience of prenatal ES. Five of these six publications were from China, sometimes retrospective, with no or limited information regarding the methods, inclusion criteria, delays, nor difficulties encountered, and often a low number of included patients. The efficiency cannot be deducted from these publications. The proposed study should answer if rapid trio-GS could be implemented in routine PND in France. The team is committed to assessing the impact of new reproductive technologies on couples. It has already carried out longitudinal qualitative studies, in the DPNI-Exome study, which showed the difficulties couples face when waiting for different results, delivered in different timeframes. GS makes it possible to offer only one unique test, which could answer the parents' questions. The team do their best to ensure that the results are delivered very quickly, but the psychologists mentioned that waiting for the results gives the couple sufficient time to realise the discovery of ultrasound signs, and the possible impact on the pregnancy prognosis. It is therefore important to assess couples' perceptions and satisfaction with a single test, which is quicker than what is offered in the standard care, and to evaluate whether the time needed to obtain the results is sufficient for their decision-making. This could be assessed by semi-directive interviews.
ENROL, the European Rare Blood Disorders Platform has been conceived in the core of ERN-EuroBloodNet as an umbrella for both new and already existing registries on Rare Hematological Diseases (RHDs). ENROL aims at avoiding fragmentation of data by promoting the standards for patient registries' interoperability released by the EU RD platform. ENROL's principle is to maximize public benefit from data on RHDs opened up through the platform with the only restriction needed to guarantee patient rights and confidentiality, in agreement with EU regulations for cross-border sharing of personal data. Accordingly, ENROL will map the EU-level demographics, survival rates, diagnosis methods, genetic information, main clinical manifestations, and treatments in order to obtain epidemiological figures and identify trial cohorts for basic and clinical research. To this aim, ENROL will connect and facilitate the upgrading of existing RHD registries, while promoting the building of new ones when / where lacking. Target-driven actions will be carried out in collaboration with EURORDIS for educating patients and families about the benefits of enrolment in such registries, including different cultural and linguistic strategies. The standardized collection and monitoring of disease-specific healthcare outcomes through the ENROL user-friendly platform will determine how specialized care is delivered, where are the gaps in diagnosis, care, or treatment and where best to allocate financial, technical, or human resources. Moreover, it will allow for promoting research, especially for those issues that remain unanswered or sub-optimally addressed by the scientific community; furthermore, it will allow promoting clinical trials for new drugs. ENROL will enable the generation of evidence for better healthcare for RHD patients in the EU as the ultimate goal. ENROL officially started on 1st June 2020 with a duration of 36 months. ENROL is co-funded by the Health Programme of the European Union under the call for proposals HP-PJ-2019 on Rare disease registries for the European Reference Networks. GA number 947670