Active clinical trials for "Congenital Abnormalities"

This is a pilot study examining tendon collagen, collagen cross-linking, and markers of tendon extracellular matrix metabolism in the Achilles tendon of diabetic patients with ulcerations and amputations of the lower extremity.

The aim of this study is to identify genetic abnormalities and molecular pathways associated with the occurrence of CCAM.

Understanding bone growth and achieving bone deformity corrections re-mains one of the oldest challenges in paediatric orthopaedics. The purpose of this study is to investigate the clinical and biomechanical effects of implants for growth modulation in pediatric patients undergoing correction of leg length or deformities of the knee. The primary aim of the study is to assess outcome after growth modulation using the Eight plate (Orthofix) at the time of implant removal with regard to any Adverse Events (AE) related to the growth plates or implants under investigation. The secondary aims are to assess if the planned correction was achieved and if the achieved correction was maintained after implant removal. Furthermore, secondary aims include investigation of the number and type of revision surgeries, the proportions of any other local AE as well as any influencing factors for growth modulation.

The China-Anhui Birth Cohort Study (C-ABCS) was set up to examine the delayed, cumulative and interactive effects of maternal environmental exposures on birth outcomes and children's development. The C-ABCS recruited pregnant women from six major cities of Anhui province, China, between November 2008 and October 2010. A range of data (including demographic, obstetric, occupational, nutritional and psychosocial factors) were collected by both interviews and laboratory tests. In each trimester, women's blood samples were drawn, and pregnancy complications were abstracted from physician's medical records. By the end of 2011, birth outcomes/birth defects were observed/identified by clinicians within 12 months after the delivery of 11 421 singleton live births of six cities and those outcomes among the remaining 2033 live births are still being observed. In addition, 4668 children from Ma'anshan city will be further followed up during the pre-school period till they reach adolescence to obtain the data on familial environmental exposures as well as children's physical, psychological, behavioural and sexual development. The interview data and information on laboratory examinations are available on request from archives in the Anhui Provincial Key Laboratory of Population Health & Aristogenics.

To conduct an epidemiologic study of persistent pulmonary hypertension of the newborn ( PPHN) infant.

Background: Rare and undiagnosed conditions are often chronic and disabling, with symptoms affecting different organ systems at various levels of severity. Perhaps the most challenging feature of an undiagnosed medical condition that has lasted 2 or more years is its characteristic uncertainty. In the absence of a diagnosis, health care professionals can provide only limited treatment and prognostic information. In the case of a child with an undiagnosed condition, the uncertainty that accompanies what is often a chronic, debilitating medical condition and an undefined prognosis may have physical, psychological, social, and spiritual implications for the entire family. Research suggests that parents of a child with an undiagnosed medical condition may be at significantly increased risk of anxiety, depression, poor health, and overall lower quality of life. It is not well understood how individuals cope with and adapt to chronic uncertainty, and the factors that influence this process. To design future interventions, descriptive studies are needed to reveal predictors that can be manipulated to improve outcomes. Objectives: To examine whether perceptions of uncertainty, and perceived personal control, are associated with coping and adaptation. To examine how the length of time elapsed since child was identified as sick and perceptions of uncertainty affect coping and adaptation. To assess how perceptions of uncertainty, time elapsed since child became sick, optimism, and perceived personal control affect coping and adaptation. Eligibility: Parents (older than 18 years of age) of children who have an undiagnosed medical condition. Participants must have a working e-mail address or fixed postal address. Design: Parents will be recruited from Web-based support networks for parents of undiagnosed children through Web site postings, electronic mailing lists, and printed newsletter postings. Participants will be asked to complete a questionnaire about their experiences in living with a child who has an undiagnosed but chronic medical condition. The main outcome variable is adaptation to living with one's child's undiagnosed medical condition. Participants have the option to complete an online or paper version of the questionnaire. The questionnaire should take between 20 and 30 minutes to complete. No medical treatments are specifically offered as a part of this study.

Our hope is that the information from this retrospective study will provide information to better serve our patients and their parents with risk stratification (levels of risk) and clinical expectations of patients after cardiac surgery who have genetic abnormalities and those who do not have genetic abnormalities.

An increased incidence of aneuploid pregnancies has been reported in women of advanced maternal age, with higher miscarriage rates. Cytogenetic studies in preimplantation embryos have shown elevated aneuploidy rate, particularly in women over 38 years. For these reasons, PGS has been applied to these patients to improve ongoing implantation rates, and most importantly, to decrease the risk of further miscarriages and affected offspring. In the past two years, several RCT have raised the question whether PGS is benefitial or not in AMA patients. In our experience, PGS outcome in these patients offers higher ongoing implantation rates than the previously published in RCT studies, where no benefits for PGS were found. In these papers, poor technical skills, as well as unclear patients selection could explain the reported lack of PGS benefits. Therefore, the objective of the present RCT is to analyze the outcome of IVF cycles with and without PGS in two age groups: Patients 38-39 years of age: 200 cyles per arm reaching embryo transfer should be performed Patients 40-44 years of age: 120 cycles per arm reaching embryo transfer Sample size has been calculated according to our retrospective experience with higher differences in ongoing implantation rates between cycles with and without PGS in patients of 40-44 years of age. In all patients embryo transfer will be performed on day 5. In the PGS group one cell will be biopsy in embryos with ≥5 cells on day-3 and chromosomes 13, 15, 17, 18, 21, 22, X and Y will be analyzed in two rounds. In the third round, nuclei with undoubtful or non-conclusive results will be analyzed using subtelomeric probes.

The posterior sagittal approach to anorectal malformation (ARM) has radically changed the outcome of these patients, improving the preservation of anal sphincters, owing to their anatomical identification. However, in long term follow-up, fecal incontinence and severe constipation remain the most frequent and disabling postoperative clinical problems, having a significant influence on quality of life. Current therapeutic measures for Fecal Incontinence include biofeedback, sacral nerve stimulation, radiofrequency energy delivery, surgical treatment and sphincter replacement. Biofeedback combined with SNS has achieved satisfactory results. However, not all patients have an improvement in their weakened anal sphincter and achieve acceptable continence. A detailed assessment of anorectal sphincter morphology and function can predict therapeutic outcome. Magnetic resonance imaging(MRI) can help to judge the anal atresia type, to display the presence and running of the fistula, and to show the nature of anal sphincter, such as the shape, thickness, directions and position of the anal sphincter complex and location in the pelvic floor and other systems malformations, finally to provide a reliable diagnostic basis for surgical program and prognostic assessment. High-resolution anorectal manometry (HR-ARM) is the latest internationally recognized examination for the evaluation of anorectal function. A standardised protocol of HR-ARM can characterise FI from dyssynergic or other neuromuscular and sensory problems. As a result, HR-ARM provides a more appropriate management in patients with FI. In order to assess whether patients with fecal incontinence should choose biofeedback therapy, our study included children with FI after anorectal malformation, and combined HR-ARM and MR to predict the efficacy of sacral nerve stimulation and pelvic floor rehabilitation.

The purpose of the study is to determine the prevalence of tongue anomalies in a group of Egyptian children and to relate the presence of malocclusion in cases of macroglossia, tongue tie and microglossia.