Active clinical trials for "Congenital Abnormalities"

Colorectal carcinoma is a heterogeneous disease that is caused by the interaction of genetic and environmental factors. colorectal carcinoma encompasses a complex disease with different molecular pathways and biological characteristics arising from a multi-step process that implicates several genetic and epigenetic events . The multi-step genetic model involves the loss of function of tumor suppressor genes, such as adenomatous polyposis coli (APC), Telomeres could be a promising marker due to the fact that their lengths change in the colorectal polyp-carcinoma sequence . Moreover, telomere length (TL) is altered in blood cells in patients with colorectal carcinoma These findings could suggest that changes in TL may take place before the development of the tumor . The two main forms of inflammatory bowel disease (IBD), ulcerative colitis (UC) and Crohn's disease (CD) are characterized by chronic intestinal inflammation and risk of progression to colon cancer. One proposed cause of the latter characteristic is chromosome instability, since the rearrangement of genetic material can lead to activation of oncogenes, loss of tumor suppressor genes and other changes that lead to uncontrolled cell growth. Chromosome instability is particularly associated with UC and has been observed in colon epithelial cells and peripheral blood mononuclear cell. Since genomic instability in peripheral blood mononuclear cells (PBMCs) has been used as a biomarker for global cancer risk in a number of diseases, the latter observation suggests the possibility of a chromosome instability syndrome in UC that could affect all tissues. One possible cause of chromosome instability is telomere dysfunction .

A recent publication (Boulay et al. 2012) highlighted the role of the peroneus longus (PL) muscle in equinus foot deformity in children with hemiplegia. BoNT (Dysport) injections into this muscle have not yet been described in the literature. Based on the results of a previous study, the hypothesis is: this muscle may thus constitute a new therapeutic target for botulinum toxin injections in the early management of spastic equinus in children aged 2 years or older, before the onset of fixed neuro-orthopedic deformity and the midfoot break. The aim of this retrospective study is to describe in intramuscular BoNT (Dysport) injections into PL based on the results obtained in a cohort of children (approximately 30 subjects) with cerebral palsy (hemiplegia or diplegia) and which have been treated in the service since 2007 until July 2012. The investigators results are based on clinical, radiological and video evaluations. For this study, data will be collected in medical folder of each children belonging to this cohort. All children (approximately 30 subjects) with cerebral palsy (hemiplegia or diplegia) which have been treated by BoNT (Dysport) intramuscular injections into PL in the service between 2007 and July 2012 will be screened. Subjects will be selected according to the following defined inclusion and exclusion criteria. Data will be collected retrospectively (using a specific case report form designed for the study) in medical folder of each included subject for all visit of follow-up after BoNT (Dysport) injection into PL (since the first BoNT (Dysport) injection up to 2012). Then, data will be entered in a database. After that, they will be analysed .

The aim of this clinical prospective study is to investigate the value of fetal cardiac magnetic resonance imaging using a new Doppler ultrasound based gating method for the detection of congenital heart desease.

The project aims to find a relationship between the positioning of the foetus before and during birth and the results of obstetrics and to determine their incidence in the Polish population. The study will be conducted by combining the use of ultrasound diagnostics, midwives observations during childbirth, analysis of medical documentation and a questionnaire on the activity of examined women. The obtained results will be used to prepare guidelines for the birth in a particular foetus position.

To evaluate the diagnostic performance of antenatal echocardiography with regard to the main diagnosis of heart disease made by cardio-pediatricians at the couple-child hospital in Grenoble according to the ACC-CHD classification, in pregnant women who have had a fetal heart ultrasound between 2015 and 2019. *ACC-CHD : Anatomic and Clinical Classification of Congenital Heart Defects

Transition from paediatric to adult health care is crucial for preventing deterioration of chronic diseases. At present, transitional care (TC) is not established for patients with the Hirschsprung disease (H) and Anorectal Malformations (ARM). To set up a program for TC and to treat persisting symptoms in adults, data on outcome in adult patients are needed. At present such data are very limited. Therefore, we want to investigate clinical and PROM in H and ARM adolescents and adults. A cross sectional study in all H and ARM patients operated in Norway from 1970-2000 and in all adolescents operated at Oslo University Hospital from 2002-2006 will examine somatic, psychosocial and mental health, and quality of life (QoL). In children operated for H and ARM a large body of evidence shows that bowel problems, reduced QoL and impaired psychosocial and mental health are common. There are papers on sexual and urological impairment in these patients, but large studies on the topic is missing. It is a general assumption among paediatric surgeons that both somatic and mental health problems related to H and ARM improve during adolescence and adult life. Therefore, no standardized guidelines for TC in these patients have been established. Interestingly, very few studies have actually examined H and ARM patients beyond adolescence. Reports from patient organizations showing significant long-term sequels and inadequate understanding of the unique problems of H and ARM patients among health professionals treating adults. Hypothesis:H and ARM adults and adolescents have bowel, urinary and sexual difficulties and reduced QoL, psychosocial and mental health. H and ARM adults receive insufficient treatment of their chronic congenital disease. H and ARM patients with syndromes have particularly bad functional outcome. Anal dilatations and repeated rectal enemas have a negative impact on adolescent psychosocial and mental health. Main aim: Acquire knowledge about long-term bowel, urinary and sexual function, QoL and psychosocial and mental health in adult and adolescent H and ARM patients. Results: from this large study of H and ARM patients will have significant influence on treatment and follow-up, both nationally and internationally. Since very few countries except the Nordic countries have the possibility to follow patients with congenital malformations into adulthood, it is important that studies like this are done.

Right thoracotomy, conventional approach to esophageal atresia repair, leads to up to 60% radiological chest wall sequelae anomalies. The impact of these anomalies on the patient's respiratory function remains unknown. Minimally invasive thoracic surgery considerably reduces this rate. The primary objective of this study is to assess the occurrence of restrictive lung disease in patients with type III esophageal atresia depending on the type of surgical approach (Conventional or minimally invasive). The primary endpoint will be he occurrence of restrictive lung disease , objectified by pulmonary function tests (PFTs), carried out according to the current national guidelines (PNDS = protocole national de diagnostic et de soins).

Genomic aberrations in patients diagnosed as congenital malformation with unknown etiology will be identified using high-density oligonucleotide array.

Aims: We plan to investigate how common uterine malformations are in high-risk women (with history of miscarriage or preterm delivery), by analysing different characteristics in these groups. This study will also investigate other ultrasound characteristics detected on these women. This study will point towards the possible mechanism of how uterine malformations may affect pregnancy outcomes.

BACKGROUND: Chiari I malformation is a rare disease characterized by cerebellar amygdalae descent under the level of the foramen magnum. It causes troubles in cerebrospinal fluid circulation and direct compression on brainstem, producing characteristic headaches, neurological impairment and syringomyelia. Surgery is the only treatment, indicated when symptomatology exists. However, sometimes patients complaint about atypical symptoms that are difficult to interpret. We would like to study one of these atypical symptoms, gait imbalance, in a pediatric population thanks to a computerized dynamic posturography (Equitest®). METHOD: infants from 6 to 18 years of age presenting a radiologically confirmed Chiari I malformation will be included in the study. We will compare posturographic results of patients which will be operated on with the results of the patients which will not; furthermore, we will compare preoperative and postoperative results in operated patients. RESULTS: 19 patients have been enrolled in the study, and data have been collected for 12 of them. Seven patients belong to operated population. CONCLUSIONS: even if enrolment of the patients is satisfactory, disposable data are not enough to perform statistical analysis and to put forward any conclusion.