syndrom anton

Snijders Blok-Campeau syndrome (SNIBCPS, OMIM# 618205) is an extremely infrequent disease with only approximately 60 cases reported so far. SNIBCPS belongs to the group of neurodevelopmental disorders (NDDs). Clinical features of patients with SNIBCPS include global developmental delay, intellectual disability, speech and language difficulties and behavioral disorders like autism spectrum disorder. In addition, patients with SNIBCPS exhibit typical dysmorphic features including macrocephaly, hypertelorism, sparse eyebrows, broad forehead, prominent nose and pointed chin...

Non-alcoholic fatty liver disease (NAFLD) and arterial hypertension (AH) are widespread noncommunicable diseases in the global population. Since hypertension and NAFLD are diseases associated with metabolic syndrome, they are often comorbid. In fact, many contemporary published studies confirm the association of these diseases with each other, regardless of whether other metabolic factors, such as obesity, dyslipidemia, and type 2 diabetes mellites, are present. This narrative review considers the features of the association between NAFLD and AH, as well as possible pathophysiological mechanisms...

A 60-year-old man was referred to the outpatient clinic due to dyspnea of effort and productive coughing and rhinorrhea. Physical examination revealed swollen ankles and yellow, hyperkeratotic nails. HRCT showed bronchiectasis. This triad of symptoms indicates yellow nail syndrome. Vitamin E improved the yellow nails, while optimal expiration techniques alleviated respiratory symptoms.

Frailty is a clinical syndrome prevalent in older adults and carries poor outcomes in patients with heart failure. We investigated the impact of frailty on left ventricular assist device (LVAD) clinical outcomes. The Nationwide Readmission Database was used to retrospectively identify patients with a primary diagnosis of heart failure who underwent LVAD implantation during their hospitalization from 2014 to 2020. Patients were categorized into frail and nonfrail groups using the Hospital Frailty Risk Score...

OBJECTIVE: Brain lesions sometimes induce a failure of recognition of one's own deficits (anosognosia). Lack of deficit awareness may underlie damage of modality-specific systems, e.g., visual cortex for visual anosognosia or motor/premotor cortex for motor anosognosia. However, focal lesions induce widespread remote structural and functional disconnection, and anosognosia, independent of modality, may also involve common neural mechanisms. METHODS: Here, we study the neural correlates of Anton syndrome (AS), anosognosia of blindness, and compare them with anosognosia for hemiplegia to test if they share different or common mechanisms...

Evobrutinib is a second-generation, highly selective, irreversible Bruton's tyrosine kinase (BTK) inhibitor that has shown efficacy in the autoimmune diseases arthritis and multiple sclerosis. Its development as a positron emission tomography (PET) radiotracer has potential for in vivo imaging of BTK in various disease models including several cancers, severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2), and lipopolysaccharide (LPS)-induced lung damage. Herein, we report the automated radiosynthesis of [11 C]evobrutinib using a base-aided palladium-NiXantphos-mediated 11 C-carbonylation reaction...

PTSD is associated with disturbed hepatic morphology and metabolism. Neuronal mitochondrial dysfunction is considered a subcellular determinant of PTSD, but a link between hepatic mitochondrial dysfunction and hepatic damage in PTSD has not been demonstrated. Thus, the effects of experimental PTSD on the livers of high anxiety (HA) and low anxiety (LA) rats were compared, and mitochondrial determinants underlying the difference in their hepatic damage were investigated. Rats were exposed to predator stress for 10 days...

BACKGROUND: Increased titers of autoantibodies targeting the G-protein-coupled receptors angiotensin II type 1 receptor (AT1R) and endotelin-1 type A receptor (ETAR) are associated with severe coronavirus disease 2019 (COVID-19) infection. The aim of this study was to determine whether 1) these antibodies are specifically related to COVID-19 disease pathogenesis or increased during any severe respiratory illness, 2) if they are formed during illness, and 3) if they correlate with inflammatory markers or long-term symptoms...

AIM: The aim of this work was to determine the range of normal imaging features during total pelvic floor ultrasound (TPFUS) (transperineal, transvaginal, endovaginal and endoanal) and defaecation MRI (dMRI). METHOD: Twenty asymptomatic female volunteers (mean age 36.5 years) were prospectively investigated with dMRI and TPFUS. Subjects were screened with symptom questionnaires (ICIQ-B, St Mark's faecal incontinence score, obstructed defaecation syndrome score, ICIQ-V, BSAQ)...

Acute respiratory tract infections (ARTIs) are one of the main reasons that the pediatric population goes to the doctor. The connection between ARTI and vitamin D (VD) is currently debated by the medical community, and so far, there has been little agreement with regard to the ideal level of 25(OH)D concentration that would provide protection for the respiratory tract, or the effectiveness of its administration in the treatment of respiratory infections. The purpose of this literature review was to bring attention to the immunomodulatory and antiviral function of vitamin D and its relation to the respiratory system by examining the main ARTIs, including SARS-CoV-2...

With the implementation of new intensive care unit (ICU) therapies in the 1970s, multiple organ failure (MOF) emerged as a fulminant inflammatory phenotype leading to early ICU death. Over the ensuing decades, with fundamental advances in care, this syndrome has evolved into a lingering phenotype of chronic critical illness (CCI) leading to indolent late post-hospital discharge death. In 2012, the University of Florida (UF) Sepsis Critical Illness Research Center (SCIRC) coined the term Persistent Inflammation, Immunosuppression, and Catabolism Syndrome (PICS) to provide a mechanistic framework to study CCI in surgical patients...

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the causative agent of COVID-19, is heavily reliant on its natural ability to "hack" the host's genetic and biological pathways. The genetic susceptibility of the host is a key factor underlying the severity of the disease. Polygenic risk scores are essential for risk assessment, risk stratification, and the prevention of adverse outcomes. In this study, we aimed to assess and analyze the genetic predisposition to severe COVID-19 in a large representative sample of the Russian population as well as to build a reliable but simple polygenic risk score model with a lower margin of error...

BACKGROUND: Parkinson's disease has been identified as a risk factor for severe Coronavirus disease 2019 (COVID-19) outcomes. However, whether the significant high risk of death from COVID-19 in people with Parkinson's disease is specific to the disease itself or driven by other concomitant and known risk factors such as comorbidities, age, and frailty remains unclear. OBJECTIVE: To investigate clinical profiles and outcomes of people with Parkinson's disease and atypical parkinsonian syndromes who tested positive for COVID-19 in the hospital setting in a multicentre UK-based study...

In somatic cells, microRNAs (miRNAs) bind to the genomes of RNA viruses and influence their translation and replication. In London and Berlin samples represented in GISAID database, we traced severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) lineages and divided these sequenced in two groups, "Ancestral variants" and "Omicrons," and analyzed them through the prism of the tissue-specific binding between host miRNAs and viral messenger RNAs. We demonstrate a significant number of miRNA-binding sites in the NSP4 region of the SARS-CoV-2 genome, with evidence of evolutionary pressure within this region exerted by human intestinal miRNAs...

OBJECTIVES: Coronary artery bypass grafting (CABG) surgery in patients with acute coronary syndrome (ACS) remains a high-risk procedure and is associated with adverse outcomes. The risk factors of acute stroke in the above-mentioned patients stay unclear and some appropriate data is lacking in the literature. Thus, we aimed to investigate the predictors of acute stroke in patients undergoing CABG surgery in ACS. METHODS: The retrospective single-centre cohort analysis was conducted...

Men have more severe Coronavirus disease 2019 (Covid-19) outcomes and higher mortality rates than women, and it was suggested that testosterone levels might promote severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and Covid-19 severity. However, clinical studies have not supported this theory. Studies have consistently shown that serum testosterone concentrations during acute Covid-19 in men are inversely proportional to the inflammatory cytokines and severity of illness. It is likely that lower testosterone concentrations in this setting are a result of acute Covid-19 illness on the hypothalamic-pituitary-testicular axis...

Chylous effusions are a rare complication of disseminated non-tuberculous mycobacterial (NTM) infection. This is a case couplet reporting on the treatment challenge of chylous effusions secondary to NTM infection in two individuals living with advanced HIV. Their treatment was complicated by associated immune reconstitution inflammatory syndrome. They both required intermittent paracentesis, steroid treatment and transitioning on to fat-free diets alongside NTM treatment. Only after months of this treatment regimen was successful resolution of the associated chylous effusions achieved...

UNLABELLED: Prone positioning is associated with improved mortality in patients with moderate/severe acute respiratory distress syndrome (ARDS) and has been increasingly used throughout the COVID-19 pandemic. In patients with refractory hypoxemia, transfer to an extracorporeal membrane oxygenation (ECMO) center may improve outcome but may be challenging due to severely compromised gas exchange. Transport of these patients in prone position may be advantageous; however, there is a paucity of data on their outcomes...

In 2016, an almond ( Prunus dulcis ) decline syndrome (ADS) emerged in intensive almond plantations in the Andalusia region (southern Spain), showing branch dieback, gummosis, and general tree decline. The aim of this work was to elucidate the etiology of this disease complex. For this purpose, surveys were conducted across the Andalusia region, and a wide collection of fungi was recovered from wood samples showing gum and internal discoloration. Representative isolates were selected and identified by sequencing the ITS, TEF1, TUB, ACT, LSU and/or RPB2 genes...

PURPOSE: This study aimed at determining whether intravenous artesunate is safe and effective in reducing multiple organ dysfunction syndrome in trauma patients with major hemorrhage. METHODS: TOP-ART, a randomized, blinded, placebo-controlled, phase IIa trial, was conducted at a London major trauma center in adult trauma patients who activated the major hemorrhage protocol. Participants received artesunate or placebo (2:1 randomization ratio) as an intravenous bolus dose (2...