Clinical Research Directory

Pelvic Floor Muscle Training and Dynamic Neuromuscular Stabilization Exercises in Pediatric Patients

Dysfunctional voiding (DY) is one of the most common conditions in children. Various treatments are available. Participants will be randomly assigned to either PFMT (Group I) or PFMT+DNS (Group II). PFMT is the gold standard and routinely administered in hospitals for children diagnosed with dysfunctional voiding who are referred by a urologist. The PFMT group serves as the control group, and treatment will be scheduled for a total of 10 weeks, three days a week. During PFMT, children receive instruction about the pelvic floor using video visuals and increase awareness of their pelvic floor muscles. They are then instructed on how to contract and relax their muscles to control urination. DNS training is an exercise model that begins with spinal stabilization and addresses muscle synergies. Patients included in the study will be evaluated twice, at the beginning and at the end of the treatment: Voiding Disorders Symptom Score (VODS), Pediatric Quality of Life Inventory 4.0 (PedsQL 4.0), Pediatric Incontinence Questionnaire (PIN-Q), Bladder Bowel Dysfunction Scale (BDS), Bristol gaita scale, and Children's Body Image Scale.

Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)

The purpose of the HSP Sequencing Initiative is to better understand the role of genetics in hereditary spastic paraplegia (HSP) and related disorders. The HSPs are a group of more than 80 inherited neurological diseases that share the common feature of progressive spasticity. Collectively, the HSPs present the most common cause of inherited spasticity and associated disability, with a combined prevalence of 2-5 cases per 100,000 individuals worldwide. In childhood-onset forms, initial symptoms are often non-specific and many children may not receive a diagnosis until progressive features are recognized, often leading to a significant diagnostic delay. Genetic testing in children with spastic paraplegia is not yet standard practice. In this study, the investigators hope to identify genetic factors related to HSP. By identifying different genetic factors, the investigators hope that over time we can develop better treatments for sub-categories of HSP based on cause.

Attitudes to Decisions to Withdraw or Withhold Life-sustaining Treatments in Critically Ill Children

The aim of this study is to investigate attitudes on decisions to withdraw or withhold life-sustaining treatments in critically ill children in Swedish intensive care units. This is a survey among pediatric critical care physicians.

Marfan Syndrome and Quality of Life of Pediatric Patients

The goal of this observational study is to learn about the impact of Marfan syndrome (MFS) in paediatric affected subjects. the main questions it aims to answer are: * The assessment of quality of life in MFS Italian patients; * The impact of phenotypic manifestations on self-image and self-management skills; * Stratify patients according to the need of psychological support. Participants will take part in the study by completing four self-report questionnaires.

New Ways of Doing Magnetic Resonance Imaging in Children and Adults

This study is being done to see how we can prevent problems caused by movement during the MRI scan. Different ways of doing the scan (techniques) will be tested to see if they are practical and can prevent problems related to motion. For example, changes in the timing of the magnetic field and the radio waves will be examined, and at changes in the way a computer is used to process the images. The new techniques will be compared with the techniques that are usually used.

Bedside Ultrasound on the Effectiveness of Lumbar Puncture in Children.

The aim of the study is to assess the influence of ultrasound examination of the lumbar spinal canal on the effectiveness of lumbar puncture. An open-label, randomized interventional study.

Pharmacogenomic Contributions to Trihexyphenidyl Biotransformation and Response in Children With Dystonic Cerebral Palsy

This study looks at how a medicine called trihexyphenidyl works in children with dystonic cerebral palsy. The study aims to understand how trihexyphenidyl is broken down and used in the body of pediatric patients and whether this is impacted by a person's genetics. Information from this study will also be used to design future clinical trials.

Vaccinations and People With Disabilities

The goal of this observational study is to learn about vaccinations hesitancy, delay or avoidance in children with chronic diseases, congenital anomalies or disabilities. The main questions it aims to answer are: • Attitudes of caregivers towards vaccinating their children, obstacles that postpone vaccinations, and the status of vaccinations of these children. Participants will fill out questionnaires and some will be included in focused groups for the qualitative part of the study. Researchers will compare the vaccinations status of the research group to their siblings' status as well as the published national records of vaccination compliance.

Pediatric Liver Transplantation-Liver Fibrosis Evaluation by Using Fibrosis Panel

Liver transplantation in children is highly successful with \>80% having 20 years survival. Most pediatric liver diseases are potentially curable with liver transplantation and it is important to establish whether children who have undergone successful transplantation can expect a normal life expectancy or whether there will be a gradual decline in liver function and eventual graft loss. The most common reasons in late graft loss in children are unexplained graft inflammation ("idiopathic" post-transplant hepatitis) and graft fibrosis. PRO-C3, a disintegrin and metalloproteinase with thrombospondin motifs-generated neo-epitope marker of type III collagen formation, has been proved to be a marker of fibrosis in patients with NAFLD. The aim of this study is to explore the role of Fibrosis Panel(PRO-C3, PIIINP, TIMP-1, HA) in children received liver transplantation.

Role of Topical Steroid Injection With Refractory Benign Esophageal Stricture Endoscopic Dilatation in Children

This clinical trial study included 21 children with refractory benign esophageal strictures. Upper GI endoscopy performed up to the area of stricture, esophageal dilatation done, endoscopy repeated, and steroid injected intralesional under direct endoscopic vision. The effect of the procedure was followed over a period of 12 months by evaluation of number of dilatation, maximum dilator size, periodic dilatation index (PDI) and dysphagia score.

Comparing the Difference in Pain Control in the Pediatric General Surgery Population: to Alternate or Combine Acetaminophen and Ibuprofen?

To examine the difference in pain control in the pediatric general surgery population alternating acetaminophen and Ibuprofen q 3 hours vs giving them simultaneous combination therapy around the clock.

Laryngomalacia, Examinations and Quality of Life in Children Before and After Treatment With Follow-up After 1 Year

Laryngomalacia is the most frequent cause of stridor in children under 1 year. The airway obstruction generates turbulent airway flow and creates the characteristic high-frequency stridor sound. In addition, the airway obstruction can cause apnea, a following drop in oxygen saturation and sleep disturbances. The symptoms of laryngomalacia are often worsened by activity, feeding, crying and lying flat on the back. The diagnosis is made with flexible laryngoscopy when the child is awake. The children are most often treated with expectation, information and guidance, observation with help with feeding and reflux treatment. Up to 20% of patients have a severe degree of laryngomalacia with apneas, which is an indication for surgical treatment. The investigators want to examine whether sleep examinations can help us deciding which child benefit from surgery, and follow-up the child again after 4-6 weeks and 1 year. The sleep examinations are carried out with polygraphy and/or polysomnography with simultaneous audio records and video monitoring and with Somnofy from VitalThings. The investigators want to use artificial intelligence and machine learning when analyzing the sleep examinations. The investigators also want to have a control group examining the sleep and breathing during night at home. In both groups the investigators want to examine the quality of life with the questionnaire ITQoL-SF47.