• In this study, we investigated the phenotypes of 7 adult individuals with molecularly confirmed SHFYNG (individuals #1-7, who carry a truncating variant on the paternal MAGEL2 allele) and one individual with the clinical phenotype of SHFYNG and a variant of unknown significance in MAGEL2 (individual #8). (biomedcentral.com)
  • Thus, the study of metabolites is a powerful tool for the characterization of complex phenotypes as well as for the development of biomarkers for specific physiological responses. (diva-portal.org)
  • We hypothesized the existence of distinct phenotype-based groups within the very heterogeneous population of patients of heart failure with preserved ejection fraction (HFpEF) and using an unsupervised hierarchical clustering applied to plasma concentration of various biomarkers. (karger.com)
  • Biomarkers of immune phenotypes are most commonly identified using immunohistochemistry (IHC). (biomedcentral.com)
  • To determine the correlates of the "metabolically healthy obese" (MHO) phenotype and the longitudinal risks of diabetes and cardiovascular disease (CVD)/stroke associated with this phenotype. (diabetesjournals.org)
  • Aim: To detect longitudinal patterns of disease phenotypes related to risk factors and physician visits. (unipa.it)
  • Conclusions: LTA allowed to identify four different phenotypes based on respiratory symptoms/diseases and their longitudinal patterns over 18 years. (unipa.it)
  • This longitudinal study aimed to evaluate the significance of fulfilling at least one criterion of the frailty phenotype in the late sixties as a predictor of short- and long-term mortality in males and females. (smw.ch)
  • To investigate the longitudinal association of different phenotypes of diabetes and obesity with the incidence of cardiovascular disease (CVD), CVD- and all-cause mortality . (bvsalud.org)
  • Ritchlin is co-leading a new research team dedicated to psoriatic spectrum diseases as part of the $64.5 million Autoimmune and Immune-Mediated Diseases Program (AIM) of the Accelerating Medicine Partnership (AMP), a huge public-private partnership involving the National Institutes of Health that is collecting and analyzing troves of biological data in order to better understand the cellular and molecular compositions and interactions that lead to disease. (medscape.com)
  • These proposals provide a systematic route to elucidating the molecular and functional basis of disease phenotypes in SHR and WKY rats, and for translating these findings to advance understanding of common human diseases. (europa.eu)
  • The majority and most severe FH cases are associated to mutations in the receptor for low-density lipoproteins receptor (LDL-r), but the molecular basis explaining the connection between mutation and phenotype is often unknown, which hinders early diagnosis and treatment of the disease. (upf.edu)
  • In the 52 years since the original description of Menkes kinky hair disease (MKHD), advances in understanding the clinical, biochemical, and molecular aspects of this rare disorder of copper metabolism have outstripped progress in the design of effective therapies. (medscape.com)
  • Hand osteoarthritis: clinical phenotypes, molecular mechanisms and disease management. (ox.ac.uk)
  • However, the molecular regulatory mechanisms of complex diseases are still not clearly understood. (scirp.org)
  • Identifying early changes in the disease course may provide new therapeutic targets to halt or reverse disease progression. (nature.com)
  • We compared the progression of photoreceptor degeneration in these compound heterozygous mice with the homozygous V685M and R562W mutants, and additionally with the D670G line that is known for a relatively mild phenotype. (nih.gov)
  • Identifying the earliest neurodegenerative changes associated with each variant has implications for early diagnosis, and for understanding the mechanisms that underlie regional vulnerability and disease progression in AD. (sens.org)
  • We have studied the histological progression of the disease. (vin.com)
  • The effect of hypertension on the progression to end-stage renal disease makes it the most important potentially treatable risk factor in ADPKD. (jscimedcentral.com)
  • Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14. (ox.ac.uk)
  • This study demonstrated the ability of statistical features to provide a quantitative, individualized measurement of glioblastoma patient and assess the phenotype progression. (hindawi.com)
  • It is possible that other mutations or predisposing factors are necessary for disease progression. (cdc.gov)
  • JAK2 positive individuals should have periodic evaluations to monitor for possible disease onset or progression. (cdc.gov)
  • CONCLUSIONS: Substantial familial influence on age of onset, depression and agitation suggests that genotype does influence phenotype in Alzheimer's disease. (ox.ac.uk)
  • In this paper, we first conducted a genome-wide association analysis by using the SNP genotype data and phenotype data provided by Genetic Analysis Workshop 17 , in order to filter significant SNPs associated with the diseases. (scirp.org)
  • We used a standardized questionnaire and, if available, clinical records from childhood onwards, with the aim to (1) characterize the adult phenotype of SHFYNG, (2) compare the adult phenotypes of SHFYNG and PWS, and (3) discern possible correlations between development in childhood and the phenotype in adulthood. (biomedcentral.com)
  • We sought to characterize them as "biomarker phenotypes" and to conclude differences in their overall characteristics. (karger.com)
  • But while interventions can be tailored to some extent to these domains, or phenotypes, there are limitations without an understanding of the different pathophysiology and mechanisms driving the heterogeneity in tissue involvement. (medscape.com)
  • The ELLIPSS project will utilize the host of -omics tools and technologies (for proteomics, metabolomics, and genomics, for instance) that are making it increasingly possible to dissect the heterogeneity of single diseases and achieve more precision with treatments. (medscape.com)
  • 3,4 Despite the clinical heterogeneity, median survival of MND remains three years, although the atypical phenotypes exhibit a longer survival. (acnr.co.uk)
  • BACKGROUND: Alzheimer's disease manifests considerable heterogeneity, the cause of which is unknown. (ox.ac.uk)
  • Reproducible quantifiable imaging features of GBM heterogeneity that explicitly examine links between the imaging findings and the underlying GBM phenotypes characteristics are identified. (hindawi.com)
  • Introduced quantitative histogram features can discriminate phenotype heterogeneity from MRI images and thereby strengthen personalized medicine in GBM [ 12 ]. (hindawi.com)
  • A new classification of periodontal and peri-implant diseases and conditions was proposed in June 2018, in a meeting jointly held by the American Academy of Periodontology and European Federation of Periodontology, with the aim to update the 1999 classification in use for 19 years. (bvsalud.org)
  • However, familial inherited genetic cases of the disease (familial AD, FAD) represent only around 2% of total cases [ 6 ]. (nature.com)
  • The majority of cases are sporadic AD or late-onset Alzheimer's disease (LOAD), where the disease is driven by a combination of genetic and other risk factors. (nature.com)
  • Recent genetic studies have identified hundreds of susceptibility genes for common human diseases but genetic effects are small and identifying underlying mechanisms remains challenging. (europa.eu)
  • To provide data that shows that canine autoimmune thyroid disease has a genetic component. (vin.com)
  • The first study which indicated a potential genetic component of the disease was by Musser and Graham in 1968. (vin.com)
  • Familial hypercholesterolemia (FH), a genetic disorder with a prevalence of 0.2%, represents a high-risk factor to develop cardiovascular and cerebrovascular diseases. (upf.edu)
  • FD manifestation is multisystem, and can differ depending on disease-related genetic variants. (centogene.com)
  • The specific CB2 cannabinoid receptor agonist JWH-133 induced cognitive improvement in double AβPP/PS1 transgenic mice, a genetic model of Alzheimer's disease. (nih.gov)
  • The pedigree of the family strongly suggested that the condition was an X-linked genetic disease. (medscape.com)
  • For example, genetic studies, clinical trials and careful prospective imaging studies from the past 5 years are beginning to provide insights into the pathogenesis of hand OA that might uncover new therapeutic targets in the disease. (ox.ac.uk)
  • Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disorder in nephrology. (jscimedcentral.com)
  • With an incidence of 1 in 1,000 individuals, this disease is the leading genetic cause of end stage Renal Disease, (ESRD) in adults. (jscimedcentral.com)
  • It is therefore important to consider the interplay between genetic factors and biological networks in elucidating the mechanisms of complex disease pathogenesis. (scirp.org)
  • Although ankylosing spondylitis can occur in more than one person in a family, it is not a purely genetic disease. (medlineplus.gov)
  • Implementing large scale studies across different populations could substantially enhance efforts to uncover the role of genetic factors in various diseases. (cdc.gov)
  • Greater availability of African genomes will improve our understanding of the role of genomic variation in genetic diseases and common complex diseases in all populations. (cdc.gov)
  • New studies will need to focus on enhancers and transcription factors, as well as genetic regulatory networks, and how changes in these networks can impact health and disease. (cdc.gov)
  • 1980, showed that 48% of dogs with primary hypothyroidism had positive TgAA titers indicating that autoimmune thyroiditis is a major cause of thyroid disease. (vin.com)
  • The phenotype change which is used to identify dogs that are positive for autoimmune thyroiditis is via the thyroglobulin autoantibody assay (TgAA). (vin.com)
  • Very few dogs are affected with this autoimmune disease prior to 1 year of age. (vin.com)
  • These sequence variants, along with variants controlling dysregulated gene expression that we characterised previously, most likely include the major determinants of SHR cardiovascular and metabolic disease phenotypes. (europa.eu)
  • The interpretation of missense variants in a disease context is challenging, especially for variants that have never been reported before. (centogene.com)
  • As a result of thousands of genome-wide association studies (GWAS), we know now that common sequence variants contribute to complex human health phenotypes (e.g., blood pressure and lipid levels), and common diseases (e.g. cancer and heart disease). (cdc.gov)
  • Predicting severity of disease-causing variants. (lu.se)
  • Before the term "Thrifty Phenotype" was coined, Barker had noted the phenomenon with cardiovascular disease. (wikipedia.org)
  • Similar phenotype-endotype research has been done for chronic obstructive pulmonary disease , he said at the meeting, pointing to a phase 3 randomized controlled trial, published in the New England Journal of Medicine, that found dupilimab (Dupixent) was effective for patients with COPD who had type 2 inflammation as indicated by elevated eosinophil counts. (medscape.com)
  • Clinical studies have shown that cortical and hippocampal hyperactivity are a feature shared by patients in the early stages of disease, progressing to hypoactivity during later stages of neurodegeneration. (nature.com)
  • The majority of ALS patients present with limb-onset disease (65-75%), 10 spreading along the neuraxis to affect contiguous motor neurons. (acnr.co.uk)
  • Bulbar-onset disease may be evident in 20-25% of patients, characterised by progressive dysarthria, dysphagia, hoarseness, tongue wasting, weakness and fasciculations as well as emotional lability. (acnr.co.uk)
  • An example that revealed the strategy's utility for Fabry Disease patients was recently published in Medicina . (centogene.com)
  • However, some patients with Menkes kinky hair disease (nearly 50% in the author's experience) have not derived substantive benefit from this approach, despite very early institution of treatment. (medscape.com)
  • [ 2 ] Knowledge gleaned from such efforts may ultimately suggest the novel therapeutic strategies needed to achieve normal neurologic outcomes in patients with Menkes kinky hair disease regardless of mutation severity. (medscape.com)
  • Based on this connection between copper deficiency and demyelinating disease, neurologists at Oxford in 1948 investigated copper metabolism in a group of patients with multiple sclerosis (MS) , a demyelinating disease of adults. (medscape.com)
  • [ 5 , 6 ] He measured serum copper in 7 patients with Menkes kinky hair disease and found low levels in all 7 individuals. (medscape.com)
  • Furthermore, integrating CD8 + T:Foxp3 ratios, which increased the complexity for immune phenotype status, revealed 6-7 clusters that enabled the separation of gastric cancer patients at the same clinical stage into different risk-group subsets. (biomedcentral.com)
  • Implementation of machine learning algorithms to discover multimorbidity patterns (i.e. how diseases accumulate over time) and approaches to provide more insights into disease co-occurrences for supporting clinicians in taking preventive clinical actions (e.g. early disease diagnosis) for patients at risk. (hdruk.org)
  • Immunotherapy is the mainstay of management, although patients with classical phenotype may be less likely to respond to therapy [3]. (mdsabstracts.org)
  • 2005). In addition, about half of patients with the closely related blood diseases, essential thrombocythemia (ET) and primary myelofibrosis (PMF), also carry the JAK21 m utation (Baxter et al. (cdc.gov)
  • These conditions occur for patients with severe disease but also for patients who had mild or even asymptomatic acute infection. (cdc.gov)
  • Most patients have multiorgan involvement at the time of diagnosis but tend to have one dominant phenotype. (msdmanuals.com)
  • IFN and IL-10 were signi cantly elevated in patients with diabetic nephropathy (DN) and end-stage renal disease (ESRD) compared with controls and diabetic patients without DN. (who.int)
  • Les IFN et les IL-10 étaient signi cativement élevés chez ceux qui présentaient une néphropathie diabétique (ND) et une maladie rénale en phase terminale (MRPT) par rapport aux témoins et aux patients diabétiques sans ND. (who.int)
  • stage renal disease (ESRD) [ 2 ] and with impaired immunity in HD patients [ 3 ]. (who.int)
  • The phenotype of SHFYNG in childhood partially overlaps with that of the well-established Prader-Willi syndrome (PWS, OMIM #176270). (biomedcentral.com)
  • Subsequent case reports confirmed that Menkes "kinky hair" disease was a newly recognized syndrome with unique clinicopathologic features. (medscape.com)
  • Anti-IgLON5 disease is an antibody-mediated neurodegenerative syndrome characterised by sleep disorders, progressive supranuclear palsy, a bulbar syndrome and cognitive decline [1]. (mdsabstracts.org)
  • While a number of pathogenic PDE6A mutations have been described, little is known about their impact on compound heterozygous situations and potential interactions of different disease-causing alleles. (nih.gov)
  • Pathogenic drivers of SVG disease include early thrombosis, neointima formation (NF) and accelerated atherosclerosis. (gla.ac.uk)
  • Whether iodine is also an inducer in the dog is not known, but the obese chicken model shows that inducers can be an important factor in the onset of the disease. (vin.com)
  • Diabesity phenotypes were defined in six categories based on the presence of diabetes (normal (NG), prediabetes and diabetes) and obesity (obese, non-obese). (bvsalud.org)
  • Mutations in the PDE6A gene can cause rod photoreceptors degeneration and the blinding disease retinitis pigmentosa (RP). (nih.gov)
  • The majority of the 50 FH known mutations (33) appear distributed in the unstable clusters, i.e. loss of conformational stability explains two-third of FH phenotypes. (upf.edu)
  • However, one-third of FH phenotypes (17 mutations) do not destabilize the LR5 repeat. (upf.edu)
  • WASHINGTON - In psoriatic disease, psoriatic arthritis (PsA) remains one of the greatest unmet needs, with the transition from cutaneous psoriasis poorly understood, diagnosis challenging, and therapeutic accomplishments trailing far behind advances for skin disease. (medscape.com)
  • Although early recognition of infants with Menkes kinky hair disease prior to neurologic damage remains a fundamental requirement, the recent advances provide a glimmer of hope in efforts to improve matters for individuals with Menkes kinky hair disease and the families who care for them. (medscape.com)
  • We are looking to identify and characterise multimorbid phenotypes with distinct trajectories from EHR data. (hdruk.org)
  • The skin clinical phenotypes of nonsteroidal anti-inflammatory drug (NSAID) hypersensitivity (NH) are very heterogeneous with several syndromes after NSAID intake, which include different symptoms, different organ involvement and different associated concomitant diseases and possibly different underlying pathophysiology and mechanisms. (intechopen.com)
  • Confirmed rat disease genes will be tested for conserved functions in humans. (europa.eu)
  • Therefore, potentially, this phenotype could be harnessed to identify individuals at risk and start treatments before degeneration progresses too far. (nature.com)
  • Here, we aimed to identify phenotypes of long COVID in individuals infected prior to and subsequent to the emergence of VOCs, explore changes in long COVID phenotype across these time periods, and the association of factors including VOCs and vaccination with these changes. (biomedcentral.com)
  • Second, we conducted a bioinformatics analysis of gene-phenotype association matrix to identify gene modules (biclusters). (scirp.org)
  • Specifically, these extracellular matrix (ECM) components critically modulate the tumor cell "motile phenotype" affecting their adhesive/migratory abilities which are directly correlated to the metastatic cascade [ 5 , 6 ]. (hindawi.com)
  • In recent years, high tumor cell levels of HIF-2 and the oxygen sensitive subunit HIF-2alpha have been associated with unfavorable disease and shown to be highly expressed in tumor stem/initiating cells originating from neuroblastoma and glioma, respectively. (lu.se)
  • However, leading researchers in rheumatology and dermatology believe that they're turning the corner toward a day when therapies are phenotype-targeted and diagnosis can be made early and treatment begun well before inflammation worsens and pain and joint damage ensue. (medscape.com)
  • Ritchlin is among those rheumatology clinician-researchers who advocated early on for a "domain" approach to the diagnosis and management of PsA - that is, consideration of the key domains of peripheral arthritis, axial disease, enthesitis, dactylitis, and skin and nail psoriasis. (medscape.com)
  • In light of recent research indicating hyperexcitability could be a predictive marker of cognitive dysfunction, we further argue that the hyperexcitability phenotype could be leveraged to improve the diagnosis and treatment of AD, and present potential targets for future AD treatment development. (nature.com)
  • Based on this finding, we propose the likely phenotype of each possible SNP in the LA5 repeat and outline a procedure to make a full computational diagnosis for FH. (upf.edu)
  • The All Ireland Infectious Diseases (AIID) cohort is a prospective, multicentre, observational cohort study recruiting individuals presenting with issues pertaining to infectious diseases in participating hospitals in Ireland, described in detail elsewhere [ 10 ]. (biomedcentral.com)
  • Atrophy patterns in early clinical stages across distinct phenotypes of Alzheimer's disease. (sens.org)
  • Treatment modalities are depending on the clinical phenotypes of NH and they will embrace for each patient: the avoidance of culprit NSAID, the finding of well-tolerated NSAID and in certain cases, desensitization procedures when the NSAID treatment was absolutely needed as well as the control of associated diseases such as spontaneous chronic urticarial or allergic respiratory diseases. (intechopen.com)
  • Background: Few data are available on the temporal pattern of respiratory disease phenotypes in general population. (unipa.it)
  • Latent transition analysis (LTA) was performed to assess respiratory disease phenotypes at PI1 and PI2, labelled according to disease/symptom occurrence. (unipa.it)
  • According to the obtained heat map of this analysis, we concluded two distinctive biomarker phenotypes within the HFpEF. (karger.com)
  • Because senescent cells accumulate with aging and contribute to multiple co-morbidities, the non-skeletal actions of zoledronate could be due to senolytic (killing of senescent cells) or senomorphic (inhibition of the secretion of the senescence-associated secretory phenotype [SASP]) actions. (sens.org)
  • 1 Amyotrophic lateral sclerosis (ALS) is the commonest MND phenotype, clinically characterised by progressive neurological deterioration and co-existence of upper and lower motor neuron signs. (acnr.co.uk)
  • Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institute of Neurological Disorders and Stroke, National Institutes of Health Bethesda, MD, USA. (nih.gov)
  • [ 1 ] The most promising therapy to date, very early subcutaneous copper injections, has normalized neurodevelopmental outcome in some individuals with Menkes kinky hair disease (approximately 30% in the author's experience) and mitigated the neurologic effects in others. (medscape.com)
  • Centers for Disease Control and Prevention. (cdc.gov)
  • The opinions expressed by authors contributing to this journal do not necessarily reflect the opinions of the U.S. Department of Health and Human Services, the Public Health Service, the Centers for Disease Control and Prevention, or the authors' affiliated institutions. (cdc.gov)
  • The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. (cdc.gov)
  • I'm Commander Ibad Khan, and I'm representing the Clinician Outreach and Communication Activity, COCA, with the Emergency Risk Communication Branch at the Centers for Disease Control and Prevention. (cdc.gov)
  • Alzheimer's disease (AD) is a progressive neurodegenerative disorder leading to loss of cognitive abilities and ultimately, death. (nature.com)
  • METHOD: Affected sibling pairs with Alzheimer's disease were assessed for a range of cognitive and non-cognitive symptoms. (ox.ac.uk)
  • Thrifty phenotype refers to the correlation between low birth weight of neonates and the increased risk of developing metabolic syndromes later in life, including type 2 diabetes and cardiovascular diseases. (wikipedia.org)
  • The thrifty phenotype hypothesis says that early-life metabolic adaptations help in survival of the organism by selecting an appropriate trajectory of growth in response to environmental cues. (wikipedia.org)
  • Neuronal hyperexcitability in Alzheimer's disease: what are the drivers behind this aberrant phenotype? (nature.com)
  • Alzheimer's disease (AD) is the most common cause of dementia, accounting for 60-80% of all cases [ 2 ]. (nature.com)
  • Alzheimer's disease is a devastating neurodegenerative disease eventually leading to dementia. (escholarship.org)
  • Here we show that oral application of the compound anle138b restores hippocampal synaptic and transcriptional plasticity as well as spatial memory in a mouse model for Alzheimer's disease, when given orally before or after the onset of pathology. (escholarship.org)
  • In conclusion, the present study lends support to the idea that stimulation of CB2 receptors ameliorates several altered parameters in Alzheimer's disease such as impaired memory and learning, neuroinflammation, oxidative stress damage and oxidative stress responses, selected tau kinases, and tau hyperphosphorylation around plaques. (nih.gov)
  • Our findings show that SLO is vital to in vivo phenotype and illness final result. (holliseden.com)
  • Moreover, intimal SVG SMCs displayed a decrease in myosin heavy chain (MYH)11 and a trend towards a decrease in calponin expression compared to medial SMCs, suggesting in vivo SMC phenotype switching. (gla.ac.uk)
  • The observation of in vivo SMC phenotype switching in pre-implantation SVGs prompted development and generation of a ligand-independent contractile differentiation protocol for primary HSVSMCs and primary human coronary artery (HCA) SMCs. (gla.ac.uk)
  • Neuroblastoma tumor initiating cells are immature with a neural crest-like phenotype and downregulation of HIF-2alpha in these cells results in neuronal sympathetic differentiation and the cells become phenotypically similar to the bulk of neuroblastoma cells found in clinical specimens. (lu.se)
  • While larger numbers of younger individuals with SHFYNG have been recently published, the phenotype in adulthood is not well established. (biomedcentral.com)
  • We recruited 7 adult individuals (aged 18 to 36) with molecularly confirmed SHFYNG and collected data regarding the clinical profile including eating habits, sleep, behavior, personal autonomy, psychiatric abnormalities and other medical conditions, as well as information about the respective phenotypes in childhood. (biomedcentral.com)
  • This study suggests changes in long COVID phenotype in individuals infected later in the pandemic, with less palpitations and chest pain reported. (biomedcentral.com)
  • Genes may also play a role in susceptibility of these diseases, as they may make individuals predisposed to factors that lead to increased disease risk. (wikipedia.org)
  • CONCLUSIONS: The significantly higher mortality of individuals presenting 1+ frailty criteria supports the appropriateness of a systematic assessment of the frailty phenotype at the age of 66-71 years. (smw.ch)
  • Microglia may be divided into four main states or phenotypes. (frontiersin.org)
  • After the inflammation fades away, microglia shift into the alternative activated M2 phenotypes that play a role in neuroprotection. (frontiersin.org)
  • The presence of neurotransmitter receptors in microglia illustrates their functional connection to neurons and this receptor activation could cause microglial cells to perform different activation phenotypes ( Pocock and Kettenmann, 2007 ). (frontiersin.org)
  • The challenge right now is that we don't understand the discrete and overlapping endotypes that underlie the phenotypes or domains" of PsA, said Christopher Ritchlin, MD, MPH, professor of medicine in the division of allergy/immunology and rheumatology and the Center of Musculoskeletal Research at the University of Rochester (N.Y.), who spoke about PsA at the annual research symposium of the National Psoriasis Foundation. (medscape.com)
  • Data source: Research Action for Health Network (REACHnet) (17), operated by the Louisiana Public Health Institute, 1 of the 5 data contributors participating in the Multi-State EHR-Based Network for Disease Surveillance (MENDS) pilot chronic disease surveillance system (11). (cdc.gov)
  • The Association of Multiparity with Lung Function and Chronic Obstructive Pulmonary Disease-Related Phenotypes. (populationmedicine.org)
  • Apparent increased female susceptibility to chronic obstructive pulmonary disease (COPD) suggests sex hormones modulate disease pathogenesis. (populationmedicine.org)
  • Health services research and value-based care that addresses disaster-related injury and illness for chronic disease. (cdc.gov)
  • Immunoglobulin G4-related disease (IgG4-RD) is a chronic immune-mediated fibroinflammatory disorder that often manifests with tumor-like masses and/or painless enlargement of multiple organs. (msdmanuals.com)
  • These findings were sex -specific and only in men with a phenotype of abdominal obesity -diabetes, a positive link was observed for CVD incidence (HR = 1.60, 95% CI 1.01, 2.52). (bvsalud.org)
  • We evaluated p16 inhibition on NAFLD phenotypes and biliary E2F1/FOXO1/IGF-1 signaling. (gene-tools.com)
  • Disease severity was determined using the revised American College of Rheumatology criteria for classification and the SLE disease activity index. (who.int)
  • This process is termed SMC phenotype switching which entails a loss in contractile properties and instead a gain in migratory and proliferative capacity. (gla.ac.uk)
  • A European consortium identifies phenotypes for 320 genes, assigning new functions for half. (the-scientist.com)
  • However, this has not led to understanding how these genes specify health outcomes or how they can be translated into disease treatment or prevention. (cdc.gov)
  • The relationship between the phenotype and mortality was investigated graphically using Kaplan-Meier survival curves and quantified in Cox models. (smw.ch)
  • Impact of diabesity phenotype on cardiovascular diseases, major cardiovascular events and all-cause mortality. (bvsalud.org)
  • Whilst risk of telephone interviews in ten states of America mortality from communicable disease may be indicated that 13.5% of under 18s and 4.7% over greater in the developing world, morbidity and 18's had flu like symptoms3. (bvsalud.org)
  • Motor neuron disease (MND) encompasses a group of rapidly progressive and universally fatal neurodegenerative disorders of the human motor system, first described in the mid-19th century by the French Neurologist Jean Martin Charcot. (acnr.co.uk)
  • Movement disorders are frequently part of the disease phenotype, with gait disorders and chorea being most common [2]. (mdsabstracts.org)
  • Frequency and Characterization of Movement Disorders in Anti-IgLON5 Disease. (mdsabstracts.org)
  • Six to 10 percent of people with ankylosing spondylitis have additional inflammatory disorders such as psoriasis, which affects the skin, or ulcerative colitis or Crohn's disease , which both affect the digestive tract. (medlineplus.gov)
  • Previous studies of GBM assessment have required registration of T1-WI and FLAIR for identifying the phenotypes, and each of the visible phenotypes is segmented manually by board certified radiologists. (hindawi.com)
  • Amyloid plaque deposition and neurofibrillary tangles (NFT) in the brain are the main pathological hallmarks of this disease. (nature.com)
  • Therefore, metabolomics is a valuable platform for studies of complex diseases and the development of new therapies, both in nonclinical disease model characterization and clinical settings. (diva-portal.org)
  • This method can be used for better understanding complex diseases. (scirp.org)
  • In these cells, HIF-2 is active under nonhypoxic conditions as well, creating a pseudo-hypoxic phenotype with clear influence on tumor behavior. (lu.se)
  • Ritchlin draws inspiration from pulmonology, which subtyped asthma into various phenotypes (for example, eosinophilic, allergic, intrinsic, exercise-induced) and "drilled down" on understanding underlying mechanisms to guide more specific treatment. (medscape.com)
  • in allergic disease, it is thought to have an immune-inhibitory role in preventing anaphylactic reactions to allergens. (msdmanuals.com)
  • Persistence of a MHO phenotype, which was associated with favorable outcomes, was related to younger age and a more peripheral fat distribution. (diabetesjournals.org)
  • Possible patterns were persistence, worsening and improvement of the phenotype. (unipa.it)
  • We do not understand the inducers of the disease and it appears that there are some factors which induce the onset of lymphocytic infiltration. (vin.com)
  • Female phenotype in a male child due to 17-alpha-hydroxylase deficiency. (bmj.com)
  • Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by α-galactosidase A deficiency leading to intracellular glycosphingolipid accumulation. (centogene.com)
  • History of this disorder can be traced to as early as 1937, when Australian veterinary scientists recognized the critical role of copper in mammalian neurodevelopment through the association of copper deficiency with demyelinating disease in ataxic lambs. (medscape.com)
  • Those studies excluded defective copper metabolism as the cause of MS, and Professor David Danks later identified Menkes kinky hair disease as a human example of abnormal myelination due to copper deficiency. (medscape.com)
  • In addition, carotid artery wire injury in mice triggered a trend towards an increase in total vascular BMP-9 levels, which was paralleled by SMC phenotype switching, indicating a potential role for BMP-9 in NF. (gla.ac.uk)
  • This mouth disease in Vietnam and found that, after replacing study was approved by the hospital institutional review subgenogroup C4 in 2013, B5 remained the leading cause of this disease. (cdc.gov)
  • The term Thrifty Phenotype was first coined by Charles Nicholas Hales and David Barker in a study published in 1992. (wikipedia.org)
  • Further study is required to determine the true association between anti-IgLON5 disease and motor tics. (mdsabstracts.org)
  • The diagno- function may play a role in vascular com- sis of type 2 diabetes was established plications such as stroke or ischaemic heart before they were screened for the study disease. (who.int)