
Genetics of Charcot-Marie-Tooth Dystrophy and Related Diseases
Peroneal Muscular AtrophyThis is a cross-sectional study to clarify the gene lineage distribution of CMT genes in CMT patients in my country, draw a frequency map of CMT gene distribution, and assist in determining the genetic diagnosis strategy of CMT diseases. All patients will be collected for clinical and electrophysiological data. Patients and families who meet the enrollment criteria will be tested for blood tests.

Incidence of MRI Sacro-Iliac (SI) Joint Anomalies in Women With Spondyloarthritis (SpA)
SpondylarthritisRetrospective study comparing the incidence of inflammatory and structural lesions seen on MRI of the sacro-iliac (SI) joints in a population of women affected by spondyloarthritis (SpA) and control women population (MISIA study NCT02956824). A previous study (MISIA) demonstrate SpA may be misdiagnosed on MRI in postpartum women due to increased stress on the joint following pregnancy and childbirth, as MRI of the SI joints may show lesions that could mimics SpA. The primary objective of this study is to compare the incidence and pattern of MRI inflammatory and structural lesions of the SI joints between SpA and control women, and determine differentiation criteria in SpA women.

Safety and Immunogenicity of 2-dose Inactivated COVID-19 Vaccine in Kidney Transplant Recipients...
Kidney TransplantationSARS-CoV-2 Acute Respiratory Disease1 moreThe severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) has a major impact on transplant recipients, with mortality rates up to 20%. However, immunocompromised individuals have been excluded from studies of SARS-CoV-2 vaccines. In such patients, the immune response to vaccination may be blunted. To better understand the immunogenicity of SARS-CoV-2 vaccines in transplant recipients, we quantified the humoral response to SARS-CoV-2 vaccine in kidney transplant recipients.

Gastric Volume in the Fasted Pediatric Cerebral Palsy Patients
AspirationRespiratory1 moreIn children with cerebral palsy, the gastric volume is measured through ultrasound after fasting before surgery to evaluate whether the risk of aspiration is higher than that of the general population.

WhatsApp in India During the COVID-19 Pandemic
Covid19Digital misinformation has been flagged as a major risk of the 21st century, with an estimated cost of $78 billion to the global economy each year. Given this scope, we propose to characterize how misinformation is spread via messenger platforms (e.g. WhatsApp). Specifically, we seek to: Identify metrics of potential misinformation (Aim 1). This is based on the hypothesis that although message contents are highly private, proxy markers can be used to identify potential misinformation. Understand the base-rate by which misinformation is shared via messaging applications (Aim 2). This is founded on the hypothesis that misinformation is endemic on messaging platforms, and thus needs to be documented. Identify "super spreaders" responsible for sending and receiving a large volume of misinformation (Aim 3). Here, we hypothesise that a small group of super spreaders are responsible for the bulk of misinformation-sharing on messaging applications. The thrust of this work aligns with both government priorities and the grant's thematic areas, providing actionable findings that are timely amidst a worldwide surge of misinformation.

Cytokine Hemadsorption in Covid 19 Patients With Bacterial Sepsis
INTERLEUKIN 6In this retrospective study, we aimed to compare the laboratory and clinical results of cytokine hemadsorption as an immunomodulation therapy in COVID-19 ICU patients with or without sepsis.

the Application of Diffusion Tensor Imaging in the Evaluation of Peripheral Neuropathy in ANCA Associated...
ANCA Associated VasculitisInclude qualified 50 ANCA-associated vasculitis(AAV) patients; and the first 27 patients will be divided into 3 groups with different diffused tension image (DTI) parameters and to choose the best strategy; On baseline, 6 months after treatment and 24 months after treatment, the AAV patients will accomplish the Birming-ham vasculitis activity score(BVAS) besides DTI; The new serum biomarkers of AAV associated peripheral neuropathy will be measured by ELISA; (4) Another cohort with 50 patients with AAV associated peripheral neuropathy who were evaluated by traditional methods (electromyogram) and compared to the patients cohort that evaluated using DTI by cost-benefit analysis

Impact of Auditory Stimulation in Eating Pleasure (EDERE 2021)
FrailtyMalnutrition3 moreBackground. Decreased taste and smell contribute to loss of appetite (anorexia), and the resulting protein-energy malnutrition increases the frailty of the elderly. The risk of falls, disability, infections and depression often requires them to be institutionalized. Elderly, undernourished and toothless patients often complain about the monotony of a soft, mixed-texture diet. In a previous study, some participants highlighted the pleasure of crunching cookies that have a solid texture that can be eaten in any dental condition. However, the age-related decrease in hearing (presbyacusis) is frequent and progressive from the age of 60. The hypothesis of this work is that older patients may perceive a crunchy food crunching in their mouth, despite presbycusis. If the hypothesis is verified, this would make geriatric caregivers aware of the possibility of diversifying the texture of food, in order to stimulate the pleasure of eating and increase the dietary intake in this population of patients who are often undernourished, dysphagic, edentulous and hearing impaired. The originality of this study is to share the expertise of geriatricians and specialists in mastication/swallowing (dental surgeon, speech-language pathologist), hearing (ENT doctor, hearing care professional) and nutrition (dietician). Type of study. Type of study MR-004 "Research not involving the human person". Protocol. Compare the noise and pleasure of crunching between two hyperprotein nutritional supplements: a soft filled cookie (Nutra Cake™, Délical, France) and a crunchy cookie of the Breton type (Protibis™, Solidages, France). Blind study impossible: each subject will eat a cookie then the other in a random order and will be his own control. The tests will be performed without the possible hearing aids, but with or without the dentures according to the patient's preference. Indeed, some patients have dental prostheses that are no longer suitable for chewing, and that they wear only for aesthetics. Objective. Validate the evaluation criteria "Do you hear the biscuit crunch?" and "Is it a pleasure?" If so, encourage diversification with crunchy foods with a suitable texture, as well as dental and prosthetic rehabilitation of dependent elderly people.

Interest of TTC for the Early Diagnosis of Acute Myocardial Infarction at Autopsy
Myocardial InfarctionIschemic heart disease is the leading cause of death worldwide and the leading cause of sudden cardiac death. However, its post-mortem diagnosis is particularly difficult because the gross examination of the heart is usually normal at the autopsy . The diagnosis is therefore often based on a set of indirect arguments, such as the patient's medical and clinical history and the degree of occlusion of the coronary arteries. The formal diagnosis of acute myocardial infarction (AMI) currently relies on standard histological examination. However, histological findings often require a prolonged survival time of several hours to be highlighted. Triphenyltetrazolium chloride (TTC) is a salt that reacts with lactate dehydrogenases contained in still viable myocardial cells, forming a red pigment visible to the naked eye, (1,3,5 triphenylformazan). Ischemia-induced cell death, which occurs within minutes of the causative event, is responsible for the leakage of lactate deshydrogenase into the extracellular medium and thus results in the absence of formazan formation in the infarcted area, which displays an easily identifiable pale unstained color. It has been suggested that the use of TTC would allow the identification of MI as early as one hour of survival in animal models, before the usual macroscopic and microscopic signs are visible. It could therefore represent an attractive forensic tool for the early diagnosis of AMI at the autopsy.

Monitoring of Incidence of Mental Discomfort in Pregnant Women During the Serious COVID-19 Pandemic...
Pregnant WomanThis study is aimed to detect severe fear of delivery and its association with the incidence of obsessive-compulsive disorder and symptoms of depression and anxiety in the population of pregnant women in the third trimester during the serious COVID-19 pandemic situation in Slovakia. Data will be acquired from three departments of gynaecology and obstetrics of University Hospital Bratislava. The majority of pregnancies from the region are managed in this hospital; the total number of deliveries in 2020 achieved 7,835