Investigation of Autonomic Dysfunction in Patients With Familial Mediterranean Fever
Familial Mediterranean FeverAutonomic DysfunctionFamilial Mediterranean Fever (FMF) is the most common inherited autoinflammatory disease affecting 150,000 patients worldwide. Periodic febrile exacerbations, peritonitis, and pleuritis are characteristic disease features. Dysregulation of IL-1β secretion has an important role in the pathophysiology of the disease, and IL-1β also serves as a therapeutic target. Chronic inflammation has been associated with early atherosclerotic and cardiovascular disease in various rheumatic diseases. An increased risk for cardiovascular events associated with disease activity has been described in rheumatoid arthritis, psoriatic arthritis, and systemic lupus erythematosus. In addition, autonomic nervous system dysfunction may contribute to increased cardiovascular risk in patients with inflammatory disease. For example, decreased heart rate variability is an important feature of cardiac autonomic dysfunction and is an isolated risk factor for cardiovascular events. Autonomic dysfunction studies related to FMF have conflicting results. The aim of this study was to determine autonomic dysfunction symptoms and objective findings in patients with FMF; Demographic characteristics, disease characteristics, inflammatory burden, fatigue level, sleep quality, presence of fibromyalgia and their relationship with quality of life were evaluated and compared with healthy controls.
Screening of Malignant Hyperthermia Susceptible Individuals
Malignant HyperthermiaThis study intends to target patients who underwent surgery under general anesthesia during the study period and developed malignant hyperthermia during or after surgery. Therefore, the total sample size was estimated to be about 50 people based on the past incidence of this rare disease. Every year, about 20 patients and their families who developed malignant hyperthermia during or after surgery will participate in this nationwide study (estimated by the current incidence of malignant hyperthermia), and about 1-5 patients will be admitted to Peking University Third Hospital participate in this research. Relevant specimens were collected from malignant hyperthermia (MH) patients and their family members for genetic analysis to determine the mutation of MH-related pathogenic gene loci.
Value of Copeptin Assay in Children With Febrile Seizures at Sohag University Hospital
Febrile SeizureFebrile seizures are one of the most common clinical diseases in pediatric neurology. It occurs between 6 months and 6 years of age and occurs in ~2-5% of children. According to the age, frequency, duration, and type of seizures FS is divided into simple febrile seizures and complex febrile seizures Differentiation between febrile seizures and non-ictal events associated with fever such as shivering or dizziness is challenging. Therefore, precise diagnosis of FS after paroxysmal episodes associated with fever is often hindered by the lack of an objective biomarker With the widespread application of technologies, such as molecular biology, in medicine, some biomarkers for predicting or diagnosing FS have attracted attention. Imuekemhe et al in 1989 and 1996 found that lactic acid in the serum and cerebrospinal fluid of children with FS was significantly increased . Arginin-vasopressin hormone AVP released by the pituitary gland, has been shown to be involved in the thermoregulatory response to fever and convulsions Although AVP is unstable in the peripheral blood and, therefore, unsuited for diagnostic use the C-terminal portion of the AVP precursor copeptin has been recognized as a robust marker of AVP secretion . Wellman et al. found that the serum copeptin and Von Willebrand factor of children with FS were significantly higher than those of the control group .
Characterization of a Functional Test for Mediterranean Family Fever Screening - 2
Familial Mediterranean FeverMEFV Gene MutationFamilial Mediterranean fever (FMF) is the most common auto-inflammatory disease (prevalence: 1-5 / 10,000 inhabitants). It is caused by mutations in the MEFV gene, which encodes variants of the Pyrine inflammasome. Inflammasomes are protein complexes of the innate immunity that produce pro-inflammatory cytokines (interleukin-1β). In vitro, our preliminary results demonstrated that the activation of the inflammatory pyrine (measured by the concentration of interleukin-1β) by kinase inhibitors is significantly increased in FMF patients compared to healthy subjects. Furthermore, a measurement of cell death gave significant results in differentiating the patients from the controls. The performance of this functional has been tested, fast and simple diagnostic test on common mutations and wish to assess its characteristics for MEFV mutations. The investigators hypothesize that this quick and simple functional test can serve as a diagnostic tool for FMF and can quantitatively discriminate against patients with different mutations (genotypes).
Transcriptomic Responses for the Identification of Pathogens
Enteric FeverAcute Febrile Illness3 moreAcute undifferentiated febrile infection (AUFI) is a common presenting syndrome in low-resource settings and better diagnostics are urgently needed to improve patient management and guide disease prevention interventions. Assessment of the host gene expression response to infection in endemic populations has demonstrated significant promise as a new approach to identifying patients with enteric fever and for potential in differentiating between other causes of AUFI. Signatures identified through new data analytic techniques could be developed into a point-of-care test for use in endemic settings. In this multisite diagnostic evaluation study we will collect prospective clinical, laboratory and diagnostic data from two endemic settings to evaluate host gene expression signatures for detecting enteric fever and for determining the cause of AUFI in LMIC settings.
Gene Mutation Spectrum of Malignant Hyperthermia in China
Malignant HyperthermiaIn this study, case information and specimens of patients with malignant hyperthermia(MH) will be collected from all over China, and gene fragment analysis, sanger sequencing method and/or high-throughput whole-genome sequencing will be performed. The MH bioinformatics database will be established to find the pathogenic gene and mutation site of MH in Chinese. Based on the bioinformatics database, the genetic law of MH family will be studied. According to the results of the study, the guideline for the diagnosis and treatment of MH that is in line with Chinese population biology characteristics will be formulated.
Immunity Period After One Dose of Yellow Fever Vaccine in Adults and Children (Paraiba Study)
Yellow Fever VaccineImmunityThe study main objective is to assess the immune status of children and adults who have never vaccinated, they will receive the first dose of 17DD yellow fever vaccine provided by the study and will be monitored for 10 years. Depending on the results of the analyzed of the data, the period of monitoring may be extended.
Causes and Outcomes of Febrile Illness in Health Facilities in Rural South and Southeast Asia
Acute Febrile IllnessThis prospective multi-site observational study aims to describe causes and clinical outcomes of acute febrile illness as well as host biomarkers in patients aged >28 days residing in rural areas in Laos, Myanmar, Thailand, the Thai-Myanmar border region, and Bangladesh and presenting with acute febrile illnesses (≤ 14 days duration) to participating health facilities. This study is funded by the UK Wellcome Trust. The grant reference number is 215604/Z/19/Z
Fever of Unknown Orgin Registry in Internal Medicine Unit and Infectious Disease Units
Fever of Unknown OriginThis registry has the aim to collect epidemiological and clinical data of classical FUO cases in Italian Internal medicine Dept. and in Italian Infection diseases Dept.
Evaluating the Genetics and Immunology of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and...
Periodic FeverAphthous Stomatitis6 moreBackground: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is the most common periodic fever syndrome of childhood. Symptoms can include swelling of the glands in the throat, mouth ulcers, and tonsillitis. Removal of the tonsils can stop the periodic flareups. But researchers do not know how PFAPA develops. In this natural history study, researchers will collect specimens and data from people with PFAPA to see what they might have in common. Objective: To collect blood and other specimens from people with PFAPA to learn more about the illness. Eligibility: People aged 1 month or older with symptoms of PFAPA or another tonsil disorder. Design: Participants will be screened. Their medical records will be reviewed. Researchers will ask about a family history of PFAPA. The following specimens may be collected: Blood. Blood will be drawn either from a needle inserted into a vein or from a prick in the finger or heel. Mucus and cells. A stick with soft padding on the tip may be rubbed inside the nostrils or mouth. Stool. Saliva. Tissue samples may be taken if participants are having surgery to remove the tonsils or adenoids. Participants having surgery may also have a nasopharyngeal wash; salt water will be squirted into the back of the throat and then sucked back out with a syringe. Most participants will provide specimens only once. They can do this in person at the clinic; they can also have their local health providers send specimens to the researchers. Some participants may have optional follow-up visits over 10 years.