Active clinical trials for "Asthenia"

Background: - Moebius syndrome limits the ability to make facial expressions like smile, frown or blink - and move the eyes laterally. It can also cause speech, swallowing or breathing difficulties and affect parts of the body, such as the limbs, jaw, muscles, or the heart. Some individuals with Moebius can have intellectual impairment or behavior problems. Researchers want to study the clinical features of individuals with Moebius or related disorders and explore the genetic and/or environmental causes of these conditions. Objective: - To learn more about the genetics and clinical characteristics of Moebius syndrome and other Congenital Facial Weakness disorders. Eligibility: - People ages 2 to 80 years with congenital facial weakness, isolated or combined with other congenital anomalies, and their family members. Design: Participants with Moebius syndrome or other congenital facial weakness disorder will be evaluated at the NIH Clinical Research Center over 3 to 5 days and undergo the following procedures: Medical and family history and physical examination, including body measurements and vital signs. Blood or saliva will be collected for genetic tests and to evaluate liver, kidney, heart and hormonal functions. Eye examination, including having a video taken of their eyes moving. Hearing evaluation. Speech and language assessment, including swallowing studies. Dental exam. Detailed neurological evaluation, including electromyogram/nerve conduction and blink reflex study. Rehabilitation medicine evaluation, including muscle and tongue strength testing and assessment of balance. Neurocognitive and behavioral testing and questionnaires to assess quality of life and copying mechanisms. Imaging studies of their head, by magnetic resonance and diffusion tensor imaging -MRI/DTI. Participants will lie on a table that slides into a metal cylinder that takes images of internal body structures using magnets. Child participants may be sedated. Some adults may have additional X-rays of their head or limbs, if there are abnormal findings. Medical photographs of the face and affected body parts may be taken. Other specialized tests or consultations, as indicated. Participants can choose to have a skin biopsy taken. A follow-up visit will be offered to participants for review of genetic test findings and possibly additional clinical tests, as indicated. Family members of the patients will have a medical and family history and physical examination. Blood or saliva will be obtained for genetic studies.

In this mono-center pilot trial, polytrauma patients admitted to intensive care will be included. Investigators are going to take blood and muscle samples at respecified time points to do metabolic, histological and molecular testing. Aim of the study is to investigate (1) changes of the blood metabolome in patients with ICUAW (intensive care unit acquired weakness) and (2) identify metabolic components who are responsible for ICUAW or can be used as marker for ICUAW.

The aim of this study is to examine the prevalence of lower urinary tract symptoms (LUTS) in children with Duchenne Muscular Dystrophy (DMD) and the relationship between functional level, posture, muscle strength, pelvic floor muscle control, participation in activities of daily living, and quality of life that may be associated with these symptoms. Forty-five children with DMD between the ages of 5-18 (Age: 9.00±3.32 years, Weight: 31,10±12,59 kg, Height: 125,87±18,46 cm) and their families were included in the study. LUTS was assessed with Dysfunctional Voiding And Incontinence Scoring System, functional level with Brooke Upper Extremity Functional Classification and Vignos Scale, posture with the New York Posture Assessment Questionnaire, Baseline Bubble Inclinometer (10602, Fabrication Enterprises Inc. New York, USA) and Baseline Digital Inclinometer (12-1057, Fabrication Enterprises Inc, New York, USA), participation in activities of daily living was assessed with the Barthel Index and quality of life was assessed with the Pediatric Quality of Life Inventory 3.0 Neuromuscular Module. Also, using the Hoggan microFET2 (Hoggan Scientific, LLC, Salt Lake City UT, USA) device, hip flexors, quadriceps femoris muscles, shoulder flexors, elbow extensors, elbow flexors, trunk extensors and flexors were evaluated in terms of muscle strength. Evaluations were made once, and the associated factors were compared in the group with and without LUTS, and the relationship between the factors and the severity of LUTS was examined.

Intensive care unit-acquired weakness (ICU-AW) is the most common neuromuscular impairment in critically ill patients. It affects more than 50 % of patients in the intensive care and is related to many problems as difficult weaning from mechanical ventilation, prolonged hospital stay and increased mortality.Thyroid disorders are also associated with neuromuscular abnormalities and may decrease the threshold for the development of any type of myopathy. However, no previous study investigated the direct relationship between thyroid dysfunction and ICUAW.This study aims at evaluation of the association between thyroid dysfunction and intensive care unit acquired weakness.

Recovery for intensive care survivors is limited by ongoing problems with walking, strength, fatigue, mental distress and cognitive morbidity known as 'Post Intensive Care Syndrome'. There has been increasing interest in ways that clinicians can support patients in their post ICU recovery. The investigators are undertaking a co design approach to informing the design of a recovery pathway for patients who have been admitted to the intensive care to support them in their return to home, family and working responsibilities.

Patients hospitalized in the Intensive Care Unit (ICU) are at risk for developing severe disabilities, physical or cognitive. In particular, ICU-acquired weakness is frequent. The causes of this weakness are multiple and the physiopathology is still not fully understood. Immobilization in bed and sepsis are known risk factors. ICU-acquired weakness has been associated with prolonged mechanical ventilation duration, and increased in ICU and hospital length of stay. It has also been associated with significant decrease in functional capacity and with higher mortality. An early screening using a specific diagnostic protocol could help improving the management of patients suffering from ICU acquired weakness. The aim of this study is to early detect ICU acquired weakness in patients suffering from septic shock and ventilated for more than 72 hours.

We conducted a retrospective study of critical ill patients who used ECMO during their ICU stay. ICU-AW was diagnosed at the time when patients discharged and had a Medical Research Council (MRC) sum score < 48 out of a maximal score of 60. We divided patients to ICU-acquired weakness group and no ICU-acquired weakness group and compared their clinical characteristics. Baseline characteristics and therapy details were collected from the case report forms and inspection reports. Univariable analysis and logistic regression analysis were used to analyze clinical characteristics of individuals and to find risk factors of ICU-AW.

Systemic sclerosis is an autoimmune connective tissue disease with undefined etiology and characterized by progressive fibrosis of the skin and major organs. Dry eyes and / or buccal syndrome is commonly reported in patients with systemic sclerosis. Goujerot-Sjogren syndrome is a chronic autoimmune disorder that is characterized by dryness of the eyes (xerophthalmia) and / or mouth (xerostomia). It may be primary or secondary to another connective tissue disease (such as lupus, rheumatoid arthritis or other). Several criteria have been validated to classify the SS but require a labial salivary gland biopsy, invasive act which complications can sometimes be reported (hematoma, lip sensory defect). Several scores based on the evaluation of the ultrasound homogeneity of the salivary glands were developed but no studies have evaluated ultrasound abnormalities of salivary glands in patients with systemic sclerosis.