Clinical and Genetic Testing of Patients With Usher Syndrome
Usher SyndromeCongenital Deafness1 moreThis study is aimed to characterize Russian population of Usher patients.
Influencing Factors on Dry Eye Syndrome and Ocular Surface Disease
Dry Eye SyndromeOcular Surface DiseaseDry eye syndrome and ocular surface disease are very important ophthalmologic diseases. It is known that various inducers are involved. However, it is still necessary to study how influencing factors are related to dry eye syndrome and ocular surface disease and how treatment for dry eye syndrome and ocular surface disease is helpful.
Work Productivity in Hyperventilation Syndrome
Hyperventilation SyndromeHyperventilation syndrome is associated with impaired quality of life. The aim of the study is to assess the relationship between work productivity, including absenteeism and presenteeism, and the severity of hyperventilation syndrome
Intestinal Ultrasound Versus Double Balloon Enteroscopy (DBE) in Diagnosis of Malabsorption Syndrome...
Malabsorption SyndromeOur aim is to compare between intestinal ultrasound and double-balloon enteroscopy in the diagnosis of malabsorption syndrome.
Adult Outcomes of Children With CAPS
Cryopyrin Associated Periodic SyndromeThe patients included in this study were followed up in the Internal Medicine and Paediatrics Departments of the Lille CHU, the Paediatric Rheumatology and Immunology Department of the Necker Enfant Malade Hospital in Paris and the Paediatric Rheumatology Department and Internal Medicine of the Bicêtre Hospital in Paris. All patients selected presented one of the 3 CAPS clinical phenotypes (CINCA/NOMID, Muckle-Wells or Cold Urticaria). The mutation and the determination of the variant had to be confirmed by genetic analysis. Patient data were collected from their medical records, retrospectively. Data collected concern childhood period from appearance of symptoms, adulthood period, in the last year and patients' way of life and quality of life upon the assessment. In addition, we collected demographic data related to the patients' lifestyle (intoxications, living arrangements, level of education) and we conducted individual telephone interviews lasting 15 minutes to complete a quality of life questionnaire including the SF36 questionnaire. The study aimed to describe the clinical symptoms of patients in adulthood and to assess quality of life. We also wanted to compare the clinical phenotypes of patients according to their genetic variant.
Social and Cognitive Factors in Carpal Tunnel Syndrome
Carpal Tunnel SyndromeCarpal TunnelCarpal tunnel syndrome (CTS) is a compressive peripheral neuropathy, characterized by pain, tingling sensation and paresthesia in the territory of the median nerve, symptoms modulated by psychosocial factors (eg, catastrophic thinking, depression, anxiety). The objective of the study is to determine those psychological and social components that influence the symptoms and function of patients with CTS. An observational cross-sectional design will be performed in patients with CTS. The patients will be selected consecutively in two hospitals of the South East Metropolitan Health Service (Santiago, Chile). The study variables will include: Perception of pain using the Visual Analogue Scale (VAS), the extent of symptoms will be evaluated using the Katz diagram; Functional assessment using the abbreviated version of the Disabilities of the Arm, Shoulder and Hand Questionnaire (QuickDASH); Catastrophic thinking as a response to pain using the Pain Catastrophizing Scale (PCS), fear of movement using the Tampa Scale for Kinesiophobia (TSK-11), and emotional state was assessed using the Hospital Anxiety and Depression Scale (HADS). Both are valid and reliable measures used to evaluate the influence of psychosocial factors in patients with CTS. Individual subject factors including duration of symptoms, type of work (desk / non-desk), BMI, age, gender, educational level and economic income will be collected through an interview process.
Treatment of Mirizzi Syndrome
Mirizzi SyndromeCholelithiasis1 moreMirizzi syndrome is an infrequent complication of long-standing cholelithiasis. Extrinsic compression of the common hepatic duct is usually caused by an impacted stone in Hartmann's pouch or cystic duct resulting in the development of cholecystobiliary fistula. This syndrome is classified based on the presence and severity of cholecystobiliary fistula. Mirizzi syndrome is challenging to diagnose preoperatively and may require complex biliary surgical procedures for resolution. Endoscopic treatment is a safe alternative with a high success rate. Single-operator cholangioscopy combined with lithotripsy has been shown to have a 90-100% success rate in the treatment of biliary stones. Herein, A single center experience treating Mirizzi syndrome with single-operator cholangioscopy guided electrohydraulic lithotripsy is presented. Difficult management of Mirizzi syndrome has led to research of new treatment options to minimize the risk of high rate complications. Single-operator cholangioscopy in combination with laser lithotripsy is an adequate and safe alternative for the treatment of this condition.
Plasma Biomarkers of Cardiopulmonary Bypass Induced Acute Respiratory Distress Syndrome (CPB-ARDS)...
Acute Respiratory Distress SyndromeThe investigators aimed to establish a prospective cohort of patients undergoing cardiopulmonary bypass (CPB) in cardiac surgery from April 2021 to September 2022, in Wuhan. The ARDS events, ventilation time, time of extubation, oxygenation index for 3 days after operation were observed. Plasma samples were collected before CPB, and several time points after CPB. Dynamic differential proteins of ARDS after CPB were screened by DIA (Data independent acquisition) proteomics. Quantitative protein marker concentration was used to predict the occurrence of ARDS after operation, the model discrimination and calibration was assessed.
Identification of Pathophysiological Pathways and Therapeutic Targets in Primary Stomatodynia by...
Primary Burning Mouth SyndromeBurning mouth syndrome (BMS) is defined by a chronic oral pain affecting especially postmenopausal women. Its physiopathology is still unknown and several hypotheses have been put forward to explain this syndrome, such as neurological, hormonal or inflammatory process. The recent development of salivary metabolomic profiling in oral diseases has led to the identification of potential pathways in such disorders. The aim of this study is to analyze the salivary metabolomic in BMS patients compared to healthy controls.
COVID-19: Pediatric Research Immune Network on SARS-CoV-2 and MIS-C
Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2)Multisystem Inflammatory Syndrome in Children (MIS-C)1 moreThe primary objectives of this study are: To determine the proportion of children with Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) related death, rehospitalization or major complications after infection with SARS-CoV-2 and/or Multisystem Inflammatory Syndrome in Children (MIS-C), and To determine immunologic mechanisms and immune signatures associated with disease spectrum and subsequent clinical course during the year of follow-up.