Researchers analyzed plasmablasts in children with Kawasaki Disease to identify potential causes of the condition. The study found massive expansions of specific antibodies, supporting an infectious disease etiology for KD. This discovery may lead to new therapeutic approaches targeting these clones.
A new study found that rapid whole genome sequencing can identify etiology and direct therapy in neonates with unexplained seizures. The analysis revealed six molecular diagnoses out of 19 patients, leading to changes in management for four patients, including targeted seizure medications and dietary supplements.
The ClinEpiDB database has released new data from the MAL-ED study, which investigated environmental exposures early in childhood and their impact on growth and development. The dataset contains over 1.3 million observations covering anthropometrics, nutrition, vaccination status, and more.
A team of researchers discovered and characterized over 5,000 microbial species in the human microbiome, with 77% being newly identified. The study highlights the personalized nature of the microbiome and its relevance to global health, particularly in non-Westernized populations.
A novel treatment targeting solitary B cells improved lung disease in CVID patients, offering a safer alternative to broad immunosuppressive therapies. Researchers identified elevated IgM levels as a marker of lung disease progression, allowing for precise timing of treatment and potential future therapeutic targets.
Peripartum cardiomyopathy (PPCM) is a disorder where heart failure develops during or after pregnancy. Recent studies suggest angiogenic imbalance plays a key role, with soluble fms-like tyrosine kinase-1 (sFlt1) and prolactin being important factors. The latest IPAC study recommendations are also referenced.
A two-year science visioning process has identified thirty specific research strategies to improve minority health and reduce health disparities. The NIH Strategic Plan on Minority Health and Health Disparities will be guided by these strategies, enabling a coordinated research approach to promote equal opportunities for all populations.
A new study has identified specific obesity-related factors that increase the risk of developing renal cell carcinoma, a type of kidney cancer. These factors include multiple measures of obesity, diastolic blood pressure, and fasting insulin, but not systolic blood pressure or circulating lipids.
The 2018 Glenn Foundation for Medical Research and AFAR Research Grant for Junior Faculty has awarded $1,200,000 to twelve researchers studying aging processes and age-related diseases. The grants will support research focused on mechanisms of biology governing normal human aging and its related physiological decline.
A prognostic model using machine learning accurately stratifies African-American breast cancer patients into high- and low-risk populations based on protein expression levels. The model identifies a combination of four proteins associated with increased risk of death, suggesting specific therapeutic regimens for this underserved demogr...
A new study proposes a human-specific understanding of disease mechanisms and novel microphysiological tools to create more predictive laboratory models. This approach holds promise for improving translation in drug discovery and reducing the use of experimental animals.
In scleroderma, IL-6-producing effector B cells promote fibrosis, while IL-10-producing regulatory B cells suppress inflammation. Administering a BAFF antagonist selectively depletes Beffs while sparing Bregs, suggesting this approach could be a therapeutic strategy for SSc.
Research analyzed data from over 25,000 individuals in China to determine early life nutrition's role in metabolic disorders. The study found significant associations between low birth weight and increased risk of obesity, diabetes, and hypertension.
A study at Dartmouth has uncovered two significant pathogenic pathways contributing to the development of lung cancer. The research, led by Xuemie Ji, identified interaction pathways in the nervous system and cellular processes involved in nutrient transport and immune response.
Researchers have developed an algorithm that predicts which individuals with depression are most likely to benefit from antidepressant medications. The study found that approximately one-third of participants responded meaningfully to medication, while the remaining two-thirds showed no significant improvement.
A new study using fruit flies identifies complex gene interactions underlying a common cause of autism. The research reveals that multiple genes interact to modulate variable symptoms, challenging the traditional single-gene approach.
Research found that human herpesvirus 6A and 7 are present in Alzheimer's brains at higher levels than in those without the disease. The study identified previously unknown gene networks that could reveal novel targets for new drugs, and may help prevent or arrest the progression of the disease.
A new special issue of the Journal of Dental Research brings together leaders in the field to discuss the state-of-the-science in head and neck cancer, presenting new early diagnostic tools and mechanism-based therapies.
Researchers highlight unique challenges of managing mitral regurgitation in women contemplating pregnancy, emphasizing clinical assessment and echocardiography as critical tools. Surgical intervention is recommended for symptomatic patients and those with progressive left ventricular dilation or low ejection fraction.
A new study found the Epstein-Barr virus is linked to seven serious diseases, including systemic lupus erythematosus (SLE), multiple sclerosis (MS), and type 1 diabetes. The virus affects nearly 8 million people in the US, highlighting a common cause of chronic illness.
Researchers at McLean Hospital have identified a method to predict depressed patients' treatment prognosis by analyzing brain activity in the rostral anterior cingulate cortex. The study showed that patients with higher activity before treatment are more likely to respond positively, allowing clinicians to tailor treatment approaches.
A new staging system for children with chronic kidney disease (CKD) predicts the length of time until a child will need a transplant or dialysis. The system takes into account three factors: glomerular filtration rate, proteinuria, and disease etiology.
Defects in a nuclear receptor, LXRβ, in the brain's dentate gyrus have been linked to autism spectrum disorders. Early changes in neurogenesis of this region may provide an aberrant template for social function circuitry.
A genome-wide association study has identified 1,407 genetic variations affecting 58 traits in a large cohort of Japanese individuals. The study also found complex interrelations between clinical measurements and diseases, highlighting the value of conducting GWAS for multiple traits in a single cohort.
Reducing Canada's overweight and obese population by 50% could prevent up to 59,829 cancer cases by 2042. Effective interventions could lower cancer incidence by projecting the impact of population-level changes on cancer rates.
A large retrospective study found that obese men and those with metabolic syndrome had a higher risk of biochemical recurrence after radical prostatectomy. Patients with obesity had a 32% higher chance of recurrence compared to those with normal weight, while those with metabolic syndrome had over four-fold increased risk.
A study found that poor sleep quality in children is associated with higher body mass index (BMI) and waist circumference, indicating a link between sleep patterns and weight gain. The researchers suggest that examining markers of sleep quality may be useful in designing childhood obesity prevention strategies.
Research finds that postmenopausal women with higher body fat levels, even those with a normal BMI, have an increased risk of invasive breast cancer. Dual energy X-ray absorptiometry (DXA) measurements show that whole body fat levels are more accurately assessed than traditional BMI methods.
Researchers at Oregon State University discovered that exposure to valproic acid, a migraine treatment, causes characteristics similar to autism spectrum disorder (ASD) in zebrafish. The study validated zebrafish as a model for studying ASD and its causes, providing a faster and more efficient alternative to traditional rodent models.
Researchers have mapped podoconiosis in Cameroon, a neglected tropical disease causing leg swelling, with an overall prevalence of 0.5%. The study suggests a nationwide distribution, highlighting the need for prevention and control strategies to beat this disabling disease.
A recent study found that dietary isoflavone intake was associated with an elevated risk of advanced prostate cancer, but not non-advanced cases. Isoflavones are a type of phytoestrogen found in soybeans and other plants.
Researchers discovered that tumor cells in the fallopian tubes of women at high-risk for ovarian cancer can be detected years before they develop into the disease, providing a potential window of time for early detection and intervention. The study identified TP53 gene mutations as an early indicator of ovarian cancer development.
A large genome-wide association analysis identifies novel gene-smoking interactions in lung cancer development, providing new candidate biomarkers. The study found three SNPs associated with non-small cell and squamous cell lung cancer risk, stratifying lung cancer risk by smoking behavior.
Cancer survivors experience significant cognitive impairment due to chemotherapy, which can impact multitasking, memory and concentration. Researchers are developing strategies to prevent this condition without reducing chemotherapy efficacy, aiming to improve quality of life for millions of cancer patients.
Julie Palmer, a BU researcher, was awarded for her work on breast cancer disparities. She aims to reduce mortality by identifying factors that influence hormone receptor negative breast cancer.
The study identified rotavirus as the leading pathogen among children under five, with a high incidence of severe cases in infants. Effective preventive measures include vaccination, oral rehydration salts, and proper hygiene practices.
A Penn-led study identified 16 new genes associated with type-2 diabetes and one new genetic risk factor for coronary heart disease. The researchers found that most of the sites known to be associated with higher diabetes risk are also linked to higher CHD risk, highlighting potential targets for future therapies.
A recent review suggests that the gut-microbiome's formation and influence begin early in life, potentially leading to imbalances that contribute to depressive syndromes. The review also finds evidence of disturbances in the microbiome due to stress, diet, and medications, highlighting the importance of nutrition in mental health.
Researchers at NYU Dentistry aim to understand how immune cells contribute to sex differences in oral cancer pain. The study will determine if neutrophil infiltration affects pain levels in patients and explore a potential mechanism for improving pain management.
Researchers at Dartmouth Health have received a five-year, $12.1 million NIH grant to study and improve the precision of lung cancer risk and screening. The team aims to enhance understanding of gene-environment interactions in lung cancer etiology and translate observations into improved screening eligibility criteria.
A recent study by UCSF researchers found that around 22.8% of children with Tourette's met the criteria for autism, compared to 8.7% of adults. The study suggests that the high rate may be due to shared symptoms rather than an overlapping etiology.
The review provides a comprehensive understanding of NeuP etiology and pharmacological treatment options. It also discusses ongoing research efforts to develop new treatments for NeuP, aiming to improve diagnostic tools and patient outcomes.
Douglas Wallace receives the award for his pioneering work in mitochondrial genetics, leading to insights into human genealogy and implications for treating metabolic and degenerative diseases. The recognition acknowledges the crucial role of mitochondrial DNA genetics and bioenergetics in common disease etiology.
Status epilepticus is a neurologic emergency with neuronal damage and systemic complications, emphasizing the need for timely treatment. The latest ILAE classification of epilepsy seizures and underlying etiologies are discussed, along with management guidelines and anticonvulsant drug therapies.
Researchers found that only 20.2% of major birth defects had a definite cause, highlighting the need for better research to prevent and care for these conditions. The study emphasizes the importance of population-based preventive interventions for known causes, such as smoking or diabetes.
The study provides detailed insights into the function of IP3R, a molecular train station controlling cell functions. The new crystal structure reveals how IP3 signals trigger the opening of the Ca2+ channel, shedding light on long-range communication mechanisms.
Research published in ENDO 2017 found that patients with more severe heart failure are associated with higher TSH and T4 levels, lower T3 levels, and increased risk of needing mechanical assistance or death. Subclinical hypothyroidism is also linked to worse survival outcomes.
Sureni V. Mullegama received the ACMG Foundation/PerkinElmer Diagnostics Travel Award for her platform presentation on Diagnostic Utility of Clinical Exome Sequencing in Autism Spectrum Disorder. She is currently a second year ABMGG Clinical Molecular Genetics Fellow at UCLA.
Researchers identified sections of DNA associated with altered gene expression in schizophrenia, pointing to alternative splicing as a contributing mechanism. The study found four disease susceptibility genes impacted through splicing regulation, including NEK4 and FXR1.
A researcher at UH Seidman Cancer Center is presenting a phase II clinical trial testing the effectiveness of combining chemotherapy with an immunotherapeutic agent, pembrolizumab, for patients with metastatic triple-negative breast cancer. The trial aims to improve survival rates and reduce disease recurrence.
Research highlights the complex etiology of psychiatric polypharmacy, which can increase the risk of adverse effects and mortality. However, certain populations may benefit from combination therapy, emphasizing the need for tailored prescribing strategies to improve treatment efficacy.
Renowned researchers Fergus Couch and Max Wicha are being honored by AACR for their significant work in breast cancer etiology, detection, diagnosis, treatment, or prevention. Their research has led to the identification of inherited genes and mutations that predispose to breast cancer.
Research suggests elevated urate levels may be associated with musculoskeletal pain in asymptomatic individuals. Cross-sectional study found ultrasound evidence of monosodium urate crystal tissue deposition in intra- and extra-articular structures.
The bellygenes initiative is a large-scale genetic project studying the genetic makeup of 800,000 Europeans in relation to irritable bowel syndrome. The study aims to reveal pathophysiological pathways that can help explain IBS etiology and inform molecular reclassification of patients.
A study by Children's Hospital Los Angeles reveals Rac1 is crucial for proper lung development. The protein regulates the Wnt signaling pathway, essential for lung branching morphogenesis. Inhibition of Rac1 disrupts lung formation and leads to cell death in mouse lungs.
A large-scale migrant cohort study found that being born in Israel significantly increases the risk of nodular sclerosis HL, with elevated risks also observed among women, those born more recently, and taller stature. The study suggests exposure to unidentified elements of the Israeli environment may contribute to the disease's etiology.
A study published in the Journal of Bone and Mineral Research found that heritability of thoracic spine curvature is significant, with a heritability score of 54%, suggesting genetic control. This discovery may inform prevention efforts for hyperkyphosis, a condition causing breathing, walking, and daily life difficulties.
Scientists at Stowers Institute for Medical Research discovered a unifying cellular mechanism underlying Treacher Collins syndrome, a rare congenital disorder. Loss-of-function mutations in genes TCOF1, POLR1C, and POLR1D cause the condition, which affects craniofacial development and survival of progenitor neural crest cells.
Chronic liver disease and cirrhosis show differing patterns among ethnic minorities in the US. Nonalcoholic fatty liver disease (NAFLD) is the most common cause of CLD and cirrhosis in Japanese Americans, Latinos, Native Hawaiians, and others.
Researchers at the University of Texas at Arlington found a significant genetic link between low attention control in early adolescence and four distinct anxiety symptoms. Low attention control is also linked to increased risk of depression, drug dependence, suicidal behavior, and educational underachievement.