Active clinical trials for "Congenital Abnormalities"

In this case, we report a case of atresia syndrome (LIS), a serious neurological disease caused by pulmonary arteriovenous fistula (PAVM). We present a previously healthy middle-aged woman who developed atresia syndrome after severe pontine infarction due to basilar artery occlusion due to undiagnosed arteriovenous malformation. This report reviewed the medical history, post-admission examination and related literature, and concluded that PAVM should be considered as the cause of implicit stroke, especially in young patients with right-to-left shunt, and should be actively treated.

In view of assessing the uphill walking capacity and to provide a functional stress test with better sensitivity the investigators need a short term functional stress test over the gold standard six minute walk test.... To demonstrate the significance of 3 minutes ramp walk test over 6 minutes walk test as a functional stress test. The investigators hypothesize that the investigators three minutes ramp walk test (3MRWT) will be superior to the existing six minutes level walk test (6MWT) in the measurement of functional capacity of post valve replacement patients.

Gastroesophageal reflux disease (GERD) is commonly seen in Western countries; however, it is gaining prevalence in Asia countries recently. In addition to the lower esophageal sphincter and the crural fibers of the diaphragm, the flap valve at the gastroesophageal junction is also responsible for maintaining an antireflux barrier. Hill et al developed a grading system of gastroesophageal flap valve (GEFV) and concluded that this flap valve system is simple, reproducible, and offers diagnostic aid in the evaluation of patients with suspicious reflux disease undergoing esophagogastroduodenoscopy (EGD). It is a common belief that large meals provoke considerable postprandial reflux and it results from an increase in the rate of transient lower esophageal sphincter relaxations. One study also revealed that rapid food intake produces more gastroesophageal reflux in healthy volunteers. So this study attempted to evaluate the relationship between dietary habit and GEFV abnormality. The investigators used a questionnaire regarding the dietary habit to the population undergoing EGD in a self-paid health examination.

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: Assessment of bowel function and QoL through relevant questionnaires 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.

This study aim to evaluate the quality of fetal ultrasound in obese pregnant women. The hypotheses is that an early ultrasound will improve the quality of the ultrasound in obese.

To assess the indications and diagnostic efficiency of whole genome sequencing (WGS) in pediatric patients with unexplained intellectual disability/developmental delay, multiple congenital abnormalities and other rare and undiagnosed diseases

The aim of this study is to determine whether clinical, sensory and motor development correlated with the values obtained from Electroneuromyography and DTI in postoperative follow up patients who underwent primary repair after the total median nerve injuries. Median nerve is one of three major nerves of hand and forearm and often injure with glass etc, in follow up of healing; clinical examination and ENMG are often used. Both of these methods are subjective, noninvasive and objective new method is required. In this context; differences between intact, recovering and not healed nerve tissue's diffusions have led to the hypothesis; "The recovery of the repaired nerve tissue can be monitored by Diffusion Tensor Imaging method".

Purpose: Fetal anomalies scan at the time of Nuchal Translucency (NT) study.

The purpose of this study is to demonstrate the feasibility of near-infrared fluorescence imaging in subjects with acquired or hereditary lymphedema, in subjects with lipidema and other lymphovascular disorders and in normal health subjects; in order to attempt to correlate imaging phenotype(s) with genotype(s).

Optimise genetic screening of human embryos using higher resolution techniques