View clinical trials related to Congenital Abnormalities.
Filter by:Pulmonary arterial hypertension (PAH) in patients with congenital heart disease (CHD) is associated with considerable morbidity and even mortality. Next to environmental risk factors, the investigators believe that there is an important role of genetic predisposition to develop PAH in CHD. There often is a discrepancy between the severity of PAH and the CHD, where it is useful to screen for PAH gene mutations. The investigators hypothesize that the genotype is partly responsible for the phenotypic variability in patients with congenital shunt lesions, where some develop PAH and others do not. If a genetic predisposition for PAH in CHD could be identified, then genetic screening could be a useful additional tool for early detection of patients at risk of pulmonary vascular disease and PAH development, with new opportunities for prevention or early treatment.
Prospective single center study to evaluate the safety and effectiveness of Restylane Silk for treatment of tear trough correction.
The purpose of this study is to determine whether a posterior fossa decompression or a posterior fossa decompression with duraplasty results in better patient outcomes with fewer complications and improved quality of life in those who have Chiari malformation type I and syringomyelia.
The purpose of this study is to offer pre-natal Myelomeningocele (MMC) repair surgery to pregnant women with one of the former surgery exclusion factors - A BMI of 35-40 kg/m2 - Diabetes; patients will require good glycemic control - History a previous preterm birth, as long as it was followed by a full term birth - Structural abnormality in the fetus; abnormality must be minor, not increasing the risk of prematurity. For example cleft lip and palate, minor ventricular septal defect, pyelectasis. - Maternal Rh alloimmunization. Must have a low level of anti-red blood cell antibody that is not associated with fetal disease, specifically anti-E < 1:4 or anti-M. Or alloimmunization with negative fetal red blood cell antigen status determined by amniocentesis. We will be extending the Management of Myelomeningocele Study (MOMs) criteria by including these factors. Prenatal clinical and outcome information will be collected; safety and efficacy will be evaluated
Following thoracic surgery, pleural effusion in pleural cavity requires post-operative drainage. Pleural effusion is responsible for pulmonary congestion, atelectasis, hypoventilation, lower efficacy of diaphragmatic curse, lower pulmonary reexpansion and vicious attitude. These complications could be avoided by respiratory physiotherapy. Forced expiration technic in ipsilateral decubitus is one of these technics but has never been proved better than other technics regarding its efficiency. The aim of the study is to compare the impact of such a technic on post operative thoracic drainage after pulmonary, pleural or mediastinal pediatric surgery.
Background Anorectal malformations(ARM) are rare and cover congenital defective development of rectum. ARM include a range of congenital conditions and may in varying degrees involve the anorectum. A significant part have malformations in other organs mainly the urinary tract. In the vast majority ARM are recognized at birth by lack of a normal anus. The primary approach is construction of a stoma and subsequent reconstruction. Bowel continuity is typical restored after 4-6 months. Many patients experience abnormal bowel function later on and affected quality of life(QoL). Aim The primary objective is to assess the patient-related outcome 10-30 years after surgery for ARM and to see if it related to existing damage to anorectum and bowel function. The secondary objective is to identify problems with bowel function which may be treated medically or by surgery to improve bowel function and QoL. To obtain the necessary knowledge the study is divided in the following sub-projects: 1. Assessment of bowel function and QoL through relevant questionnaires 2. Examine sphincter anatomy and function through rectal ultrasound, magnetic resonans(MR)-scan of the pelvis and anal manometry. Bowel function is assessed through colonic transit time. Screening for urinary tract problems with uroflowmetry. Methods Participants are identified through relevant diagnostic codes(Q 42) and patients which underwent surgery for ARM in the years 1985-2005 are included if informed consent is obtained. Relevant questionnaires regarding symptoms and QoL are completed before the following examinations: - Anal manometry - Anal ultrasound - Pudenda conduction velocity - Colonic transit time - Magnetic resonans(MR)-scan of lower abdomen and pelvis - Uroflowmetry Bowel function and QoL is assessed in both children and adults with relevant validated questionnaires. Perspective No danish studies and only a few foreign investigate the relationship between anatomy/physiology and quality of life after surgery for anorectal malformations. The investigators believe the study and included comprehensive examinations will clarify the causes of functional problems after surgery for anorectal malformations. Results of questionnaires regarding symptoms, disease-specific-and general quality of life offer a unique opportunity for targeted treatment to improve symptoms and QoL in patients with ARM.
Directly following cardiac surgery for congenital heart disease; patients are not receiving routine turning every two hours to prevent pressure ulcers, because a negative influence on hemodynamic parameters is assumed. Investigators have suggested that lateral position may have clinically significant effects on oxygenation in cardiac surgery patients.
Many variables measured in critically ill patients have been used to estimate severity of disease, prognosticate morbidity and mortality, evaluate costs of treatment, and finally indicate specific treatment and monitor the adequacy of treatment and its timing. It is unlikely that one measurement can replace all of these, but in the remainder of this manuscript the investigators will show that lactate levels may come close. Although in our mind strongly linked to tissue hypoxia, lactate levels follow many more metabolic processes not related to tissue hypoxia and, therefore, subject to many disturbances found in various clinical situations
The purpose of this research study is to determine the relationships between foot muscle, foot motion, and toe deformity. Results from this investigation will help the investigators to understand what contributes to foot deformities and the role of the foot muscles in the development of foot deformities. This could potentially guide treatment options focusing on strengthening the foot muscles to prevent or reduce the risk of developing a foot deformity.
The purpose of study is to evaluate the benefits of using the Next Generation Sequencing Technology to diagnose birth defects and genetic diseases. The results from genomic sequencing can also significantly shorten the time of examination, improve the diagnosis rate, guide the clinical treatments. So the ultimate goal is individualized or personalized therapy and promote prognosis.