Active clinical trials for "Syndrome"

This study addresses the changes in the axonal excitability parameters. It will compare these changes in patients with early infantile epileptic encephalopathy with HCN1 channel mutation and in control patients, with and without epilepsy.

This treatment plan is intended for the use of UX007 (triheptanoin) in the treatment of a single patient with Glucose Transporter 1 (GLUT1) Deficiency Syndrome.

Specific Aim #1: To identify, through qualitative research, deficits in positive emotional states (e.g., positive affect, optimism) and associated barriers to completing health behaviors, like physical activity and healthy eating, in patients with metabolic syndrome (MetS). Hypothesis: Participants will be able to complete semi-structured interviews, providing information about their positive emotional states, linking the presence of positive emotions to better adherence to health-related behaviors, and identifying additional barriers (e.g., logistic, motivational) to completing such behaviors.

This study plans to learn more about how the energy system works in girls with Turner syndrome. This is important to know so that the investigators understand how Turner syndrome relates to diseases such as diabetes, extra weight gain, heart disease and liver disease, and how this impacts day to day life.

Patellofemoral pain syndrome (PFPS) is a multifactorial pathology characterized by diffuse retropatellar and peripatellar pain in the knee joint, exacerbated by overloading activities on the patellofemoral joint. However, this disease showed high degree of patients not responsive to therapeutic strategies. This condition occurred because several factors is related to disease such as: (1) proximal factors (involving trunk and hip), (2) local factors (surrounding and or within the patellofemoral joint) and (3) distal factors (involving ankle and foot). Thus, the identification of clinical subgroups based in anatomic changes (proximal, local and distal factors) is a recent strategy that could help in the therapeutic strategies focused on the etiology of the disease, improve responsiveness to treatment, clinical and functional benefits.

Objectives- to find out whether a correlation exists between denudation of urothelium and diagnosic delay in patients with BPS / IC, secondary aim was to search a correlation between impact of symptoms evaluated with ICSI-ICPI and number of comorbid conditions associated with BPS-IC. Patients and Methods- Fifty-seven consecutive patients underwent cystoscopy under anaesthesia to classify those cases suspected of BPS/IC. As for the evaluation of the ICSI-ICPI scores we considered significant relevant values those ≥ 12. Patients underwent cystoscopy with hydrodistension under general (90%) or locoregional anaesthesia. Bladder biopsies were taken, including detrusor muscle, from those areas with the most apparent bladder wall lesions. All biopsies were then fixed in 4% formalin and sent to the Pathologist for examination.

To date, there are no valid and reliable pressure pain threshold scales for use in research or clinical practice. The existing manual palpation protocols and scales have limited support in the literature and our knowledge has not advanced since these scales were proposed in the 1990's. Therefore, the purpose of this investigation was to develop a valid and reliable PPTS in order to provide an objective means of assessing pressure pain thresholds and create a reliable method of communication among clinicians for individuals with a diagnoses characterized by MPS and FM. These conditions were chosen based on their high prevalence among chronic pain conditions and are also dependent upon the manual palpation examination for their diagnosis.

The investigators will conduct a cross-sectional study to discovery the distribution of IBS subtypes who would like to seek TCM treatment and their TCM patterns. At the same time, the investigators will also collect the serum, urine and stool samples of the participants to explore the host-gut microbiota metabolic interactions associated with IBS subtypes.

Survivors of acute lymphoblastic leukemia (ALL) are at risk for neurocognitive deficits, reduced educational and psychosocial outcomes, and lower quality of life. Neurocognitive assessment is frequently implemented during therapy and continued into survivorship to monitor functioning and to facilitate intervention. Children with Down Syndrome (DS) are at 10 to 20-fold increased risk for leukemia. Survival rates for leukemia patients with DS are comparable to or lower than patients without DS, however, these patients are at greater risk for treatment-related toxicities. Children with preexisting neurodevelopmental conditions, including DS, are systematically excluded from neurocognitive assessment on clinical trials, contributing to a gap in the investigators understanding of outcomes in these patients with preexisting neurocognitive vulnerability. The investigators propose a novel preliminary investigation of functional outcomes in children with DS and childhood leukemia. This study has implications for future treatment of leukemia patients with DS, and may generalize to leukemia patients with other predispositions or preexisting neurodevelopmental conditions (e.g., genetic disorders, acquired brain injury, autism, and epilepsy). Primary Objective: To describe neurocognitive and psychosocial outcomes in survivors of childhood leukemia with Down Syndrome using a novel assessment approach.

Following the first study conducted to investigate the prevalence of metabolic syndrome and its components in Turkey, it was aimed to demonstrate the change in general health condition of available patients after the period of time lapsed. This study will provide important information on the social and economic dimensions of metabolic syndrome and will contribute to development of preventive programs.