Active clinical trials for "Congenital Abnormalities"

OBJECTIVES: I. Determine the pattern of immunologic reconstitution in patients with T-cell compromise due to DiGeorge syndrome or velocardiofacial syndrome. II. Determine any correlation between immunologic function in these patients and chromosome 22 deletion breakpoints. III. Determine presence of sustained immunologic compromise in older patients.

The survey studies patient satisfaction after titanium patient specific jawline augmentation in congenital, post-trauma, deformity and transgender/cosmetic jaw angle/border deficiencies.

An early diagnosis of congenital malformations and suspected genetic conditions in critically ill infants is essential to perform specific adapted care, prevention, and give proper genetic counseling. However, etiologies are various and each of them is individually very rare. Thanks to next-generation sequencing technologies, diagnosis time frames have drastically decreased and the investigators have observed an increase in diagnosis yields. This study aims to evaluate the feasibility of fast trio exome sequencing (less than 16 days between informed consent signature and the consultation for results to the parents) in infants under the age of 12 months hospitalized in Intensive Care Unit (ICU).

to evaluate vitreomacular interface abnormalities in diabetic retinopathy by using Ocular Coherence Tomography (OCT)

Patients of unilaterally displaced sacral fractures fixed with lumbopelvic technique or novel adjustable plate from June 2011 to June 2017 were recruited into this study and were divided into two groups: group A (lumbopelvic fixation) and groups B (novel adjustable plate). Surgical time, intraoperative blood loss, frequency of intraoperative fluoroscopy, reduction quality, related complications were reviewed. Fracture healing was assessed by the radiographs conducted at follow-up. Functional outcome was evaluated according to the Majeed score at the final follow-up.

A nationwide observational study. Children operated with single-ventricle palliation between January 1994 and December 2017 operated in Sweden will be included retrospectively. Patients born with a functionally single ventricle but not undergoing surgery will not be included. Data regarding preoperative clinical characteristics and operative details will be obtained by medical records review and from The Swedish Registry of Congenital Heart Disease (SWEDCON). Using unique personal identity numbers assigned to all residents of Sweden, data from SWEDCON will be linked with dates of death.

It has been shown that foot and ankle postural disorders can alter the biomechanic of lower extremity and pelvis. This situation can affects balance, postural control and phsical performance of individual adversely. However, it is unknown whether the muscles that control lumbopelvic are affected or not affected. The aim of this study is to investigate the relationship between foot-ankle characteristics and lumbopelvic control, balance and physical performance in healthy young adults.

Mullerian anomalies are congenital structural anomalies in the uterus . Its prevalence is not uncommon .

Co morbidity rates of hearing loss in children with autism spectrum disorder are high and increasing. Investigators are aiming to: evaluate peripheral auditory and brain stem auditory function in children with autism spectrum disorder. compare communication capabilities in autistic children having hearing abnormalities and autistic children with normal hearing.

This is a descriptive cross-sectional study 300 patients coming for antenatal care at sohag governorate undergo mid anatomical scan. Samples 300 pregnant women have mid anatomical scan at 20-22 weeks as routine antenatal care and Examination of the fetal CNS will be performed with a high resolution two dimensional ultrasound machine (Voluson E8) equipped with a RAB 4 to 8MHz multifrequency transabdominal Probe. Four standard recommended views-transventricular, falx, cavum, and posterior fossa or transcerebellar views-provide an overview of fetal intracranial anatomy during the second trimester anatomy scan. Follow-up information will be obtained in all cases, and all infants will be considered healthy by pediatric examination. In selected cases, postnatal single-shot fast spin-echo magnetic resonance (MR) imaging will be performed as integrated, complementary investigation.to confirm diagnosis.