Search results for “Etiology”

Hemolysis-associated disorder and natural product exposures: underrecognized drivers of an escalating global pulmonary arterial hypertension burden—an ecological study of 204 countries and territories

This ecological study identified hemolysis-associated disorders as major drivers of the escalating global PAH burden. Hemoglobinopathies and hemolytic anemias correlated positively with PAH incidence, with G6PD trait, other hemoglobinopathies/hemolytic anemias, and vitamin A deficiency identified as top predictors.

Chikungunya fever: Etiology, pathogenesis, and management, with a particular focus on evidence-based application of traditional Chinese medicine

Chikungunya fever is caused by the Chikungunya virus, transmitted by Aedes mosquitoes. Traditional Chinese medicine offers promising integrative treatments, particularly for acute symptoms and chronic polyarthralgia. A holistic response to CHIKV requires combining standard care with evidence-based TCM.

Multi-omics study reveals new drivers of rare polyposis syndrome Cronkhite–Canada syndrome

A multi-omics study identifies the TNF-α/IL-1β/PGE₂ axis as a driver of mucus overproduction and colonic lesion formation in Cronkhite–Canada syndrome. The study reveals extensive epithelial remodeling, goblet cell hyperplasia, and an inflammatory colonic epithelial cell subset characterized by high expression of lipocalin-2.

Perioperative anaphylaxis: Etiology, pathophysiology, diagnostic challenges, immediate management, prevention strategies, and future perspectives

Perioperative anaphylaxis is a life-threatening condition that requires high suspicion due to its masked presentation. Immediate management involves stopping potential triggers, administering aggressive fluids, and epinephrine, with post-event investigation including skin testing and drug provocation tests.

A multi-omics and machine learning framework identifies plasma SBDS as a causal biomarker and therapeutic target in primary sclerosing cholangitis

Understanding pathogenesis of liver cirrhosis for improved clinical management

Researchers compare viral and MASLD cirrhosis pathogenic mechanisms, identifying shared pathways and diagnostic differences. The study aims to establish a framework for prevention, diagnosis, treatment, and monitoring of MASLD cirrhosis.

Chinese Guidelines for Clinical Diagnosis, Treatment, and Management of Cirrhosis (2025)

The Chinese Guidelines for Clinical Diagnosis, Treatment, and Management of Cirrhosis (2025) provide a comprehensive framework for diagnosing and managing liver cirrhosis. Key pathophysiological changes include impaired synthesis of albumin and coagulation factors, portal hypertension, gut-liver axis dysregulation, and progression driv...

Hemispheric asymmetry in the genetic overlap between schizophrenia and white matter microstructure

This study identifies shared genetic variants linking schizophrenia with left- vs right-hemisphere white-matter tracts, revealing hemispheric asymmetry. Hemispheric specificity was observed in the left posterior thalamic radiation and tapetum, with higher proportions of shared loci.

eQTL analysis: bridging genomic variation and phenotypic diversity

eQTLs modulate gene expression through various molecular mechanisms, providing insights into disease etiology. eQTL analysis has elucidated the functional relationship between genetic variants and complex traits in diseases such as RA, T2D, breast cancer, and SZ.

Label attention meets deep learning: a novel model for ICD-11 automatic classification of Chinese EMRs

A novel deep learning model, LA-TextCNN-BiLSTM, has been developed to improve the accuracy of automatic disease classification using ICD-11 for Chinese Electronic Medical Records (EMRs). The model achieved an 83.86% accuracy rate and demonstrated robust performance in multi-label classification.

New evidence reveals streptococcus anginosus drives gastric cancer development

A recent study published in Gut journal revealed that Streptococcus anginosus produces methionine metabolites, which significantly contribute to the development of gastric cancer. The research opens new paths for microbiota-targeted prevention strategies.

Boston Children’s receives a $7.5 million grant from Aligning Research to Impact Autism (ARIA) to provide clinical research coordination for the IMPACT Network

Boston Children's Hospital will provide clinical research coordination for the IMPACT Network, a multisite clinical trial infrastructure enabling rapid and effective therapeutic development for autism. The grant, from ARIA, will support the development of study design protocols, recruitment strategies, and efficient workflows.

Global burden and mortality of amyotrophic lateral sclerosis and other motor neuron diseases in 204 countries and territories, 1990–2021

The study examines the global epidemiology of amyotrophic lateral sclerosis (ALS) and other motor neuron diseases (MNDs), revealing a rising global burden with significant variations across regions. Regional factors contribute to these diseases, emphasizing the need for optimized medical resources and further research.

Hepatosplenic volumes and portal pressure gradient identify one-year further decompensation risk post-transjugular intrahepatic portosystemic shunt

A retrospective cohort study found that right hepatic lobe volume, spleen volume, and portal pressure gradient reduction predict further decompensation in cirrhotic patients post-TIPS. A nomogram model demonstrated high discriminative accuracy in identifying high-risk patients.

The mechanisms behind thrombocytopenia in patients with portal hypertension and chronic liver disease

Thrombocytopenia is a hallmark of portal hypertension and cirrhosis, with impaired production, increased destruction, and sequestration being key mechanisms. Diagnostic approaches include non-invasive methods like transient elastography and serological markers, while integrated management addresses both PH and thrombocytopenia.

Gut microbiota: implications in pathogenesis and potential therapeutic target in primary biliary cholangitis

Primary Biliary Cholangitis (PBC) is a chronic autoimmune liver disease characterized by immune-mediated destruction of small intrahepatic bile ducts. Recent studies have highlighted the significance of gut microbiota dysbiosis in PBC, with reduced diversity and imbalanced flora contributing to disease progression. The gut microbiome a...

RSA-KG: A graph-based rag enhanced AI knowledge graph for recurrent spontaneous abortions diagnosis and clinical decision support

A novel graph-enhanced AI framework called RSA-KG was developed to tackle complex, multifactorial cases of recurrent spontaneous abortions. It outperforms existing models by structuring knowledge and enabling multihop reasoning, leading to more accurate diagnoses and treatment plans.

Gene–environment interaction of GWAS loci and reproductive history in uterine fibroid risk

This study examines the association between genetic variants (GWAS loci) and environmental factors (reproductive history) in uterine fibroid development. Genetic variants like rs66998222 and rs11031731 are found to have context-specific effects, with some exhibiting protective or deleterious effects depending on abortion history.

Prenatal exposure to fine particulate matter components and autism risk in childhood

A large cohort study found associations between prenatal fine particulate matter components and postnatal ozone exposure with increased risk of autism spectrum disorder. These findings suggest that air pollution may play a role in the etiology of autism, warranting further research.

Genetic link discovered between childhood intelligence and parental longevity

A significant genetic correlation has been identified between childhood cognitive function and parental longevity, providing molecular evidence for the connection. The study found that shared genetic factors influence both early cognitive abilities and lifespan, with a genetic correlation of 0.35.

Stress sensitivity makes suicidal thoughts more extreme and persistent among the university population

A longitudinal study of over 700 university students found that stress sensitivity increases the frequency, intensity, and variability of suicidal thoughts. Stress sensitivity was also found to intensify the frequency and variability of suicidal thoughts among students with intense, frequent, and persistent ideation.

Acute liver failure with determinate rather than indeterminate etiology facilitates therapy and may avoid liver transplantation

A study finds that a determinate diagnosis is crucial for initiating specific therapies in acute liver failure, potentially avoiding liver transplantation. A re-evaluation of cases initially classified as indeterminate reveals new diagnoses, including viral infections and autoimmune hepatitis.

Hepatocellular carcinoma risk stratification for cirrhosis patients: Integrating radiomics and deep learning computed tomography signatures of the liver and spleen into a clinical model

A new clinical model integrating CT signatures predicts HCC risk more accurately than existing models, stratifying patients into high-risk and low-risk groups. The study enhances individualized surveillance and improves patient outcomes for cirrhosis patients.

New ACS study: Late-stage incidence rates continue to increase rapidly as mortality declines slow

Prostate cancer incidence rates have reversed from a decline to an increase, with advanced-stage diagnoses rising by 4.6-4.8% per year. Meanwhile, mortality declines slowed from 3-4% per year in the 1990s and 2000s to 0.6% over the past decade. The study highlights wide disparities, with Black men facing twice the risk of death compare...

An overview of advancements in screening methods and point-of-care diagnostics for colorectal cancer

Recent advancements in screening methods and point-of-care diagnostics offer hope for early detection and improved outcomes in colorectal cancer. Emerging technologies such as single-cell sequencing, spatial transcriptomics, and artificial intelligence are being leveraged to enhance diagnostic accuracy and personalized risk prediction.

Unlocking the potential of the non-coding genome for precision medicine

Advances in NGS have revealed non-coding regions' role in gene regulation and disease etiology. Targeting non-coding elements implicated in disease may lead to tailored therapies.

BU researchers identify mutational signatures and tumor activity in Chinese patients

Researchers from Boston University identified mutational signatures in a large Chinese population, finding similarities with American populations but also distinct correlations with clinical factors. The study provides new insights into the relationship between environmental exposure and cancer development.

Why folic acid isn’t enough: New clues to spina bifida risk

A comprehensive review synthesizes two decades of research identifying emerging genetic and environmental factors increasing spina bifida risk, including pesticide exposure, obesity, diabetes, and novel genetic variants. The findings call for integrated public health and genetic screening strategies to inform precision prevention.

Comprehensive insights into clubfoot etiology and management

The article explores the genetic factors, epidemiological patterns, and current management techniques associated with clubfoot. Key findings highlight the crucial role of genes like TBX4, PITX1, and HOXA in limb development and tissue differentiation.

Phenotypes and endotypes in bronchiectasis: a narrative review of progress toward precision medicine

This article reviews bronchiectasis phenotypes and endotypes, exploring their impact on disease management and treatment strategies. Recent research has identified distinct inflammatory endotypes, guiding targeted therapies and improving patient outcomes through personalized approaches.

Polygenic architecture of dental caries: single nucleotide polymorphisms in genetic epidemiology

A substantial genetic component shapes dental caries etiology, with polygenic mechanisms and epistatic interactions across key biological pathways. Key genes like AMBN, ENAM, and MMPs influence tooth mineralization, while TAS2R38 and TAS1R3 impact taste sensitivity and sugar preference.

Sex differences affect efficacy of opioid overdose treatment

A first-in-human study found that naloxone reduces opioid receptor availability by 40-50 percent in brain regions, but shows a greater reduction in women compared to men. This suggests sex-based differences in how men and women respond to opioid overdose treatments.

Adult still's disease with atypical skin manifestations: A case report

A case report documents an adult with Adult Still's Disease (ASD) presenting with urticarial, erythematous, and pruritic skin lesions, which led to fever, arthritis, and widespread dermatologic involvement. The patient was diagnosed using Yamaguchi criteria and responded well to treatment with prednisone and methotrexate.

Expert strategies unveiled to tackle fractured instruments in dental procedures

The study provides a comprehensive framework for understanding instrument separation during root canal therapy, emphasizing advanced retrieval techniques and preventive measures. It recommends step-by-step protocols to mitigate complications and preserves natural teeth. The guidelines highlight innovations like ultrasonic methods and m...

Understanding inflammatory bowel disease: An integrative framework of microbiome, metabolome, and immunological biomarkers

Recent research highlights the gut microbiome's pivotal role in IBD pathogenesis, alongside metabolomic and immunological dysregulation. An integrative model links microbiome shifts to reduced butyrate, disrupting Th17/Treg balance and elevating IL-6/IL-17.

CSMD1 identified as a novel gene in epilepsy

A new study identifies CSMD1 as a novel gene associated with generalized epilepsies, including developmental and epileptic encephalopathy. The research found that CSMD1 variants are more damaging and exhibit lower minor allele frequencies in DEE cases compared to IGE cases.

Heteroplasmic de novo MT-ND5 truncating mutations: Implications for mitochondrial function in oncogenesis

Research reveals specific mtDNA mutations drive cancer initiation, impairing mitochondrial function and increasing ROS production. Elevated oncogenic potential is observed in cells with low to moderate levels of MT-ND5 heteroplasmy.

NIH researchers discover a new tissue biomarker for aggressive breast cancer risk and poorer survival

Researchers identified changes in stromal tissue associated with increased aggressive breast cancer risk and poorer survival rates among women with benign breast disease. The study used machine learning to detect subtle changes in breast tissue samples from over 9,000 women.

New research shows one in four patients in early cardiogenic shock experience poorer outcomes

A study of 500 early cardiogenic shock patients found that nearly one-quarter experienced poor outcomes, including increased risk of care escalation, deterioration, and in-hospital mortality. The research underscores the need for timely diagnosis and treatment to improve survival rates among this vulnerable population.

Microvascular decompression combined with nerve combing for atypical trigeminal neuralgia

This study examines the effectiveness of combining microvascular decompression with nerve combing for patients with atypical trigeminal neuralgia, a chronic pain condition that does not respond well to conventional treatments. The procedure has shown promising results in reducing pain levels and improving patient outcomes.

The EEF1AKMT4–EEF1A2K36ME3 axis promotes gallbladder cancer progression

A new study reveals the molecular mechanism of lymph node metastasis in gallbladder cancer, identifying eEF1A2 and its K36 trimethylation as prognostic markers. The EEF1AKMT4-eEF1A2K36me3 axis promotes ribosome protein synthesis, enhancing tumor growth and metastasis.

Peyronie's disease management Current insights & Future directions

Peyronie's disease is characterized by fibrous plaques leading to penile curvature and pain. Current management strategies focus on pain control and correcting deformity, with non-surgical treatments like traction therapy showing promise.

Cardiac arrest during long-distance running races

Despite a rise in long distance running participation, cardiac arrests during US marathons and half-marathons have shown no significant increase, indicating improved emergency response measures are at play.

Comprehensive genomic and epigenomic characterization of iridocorneal endothelial syndrome

A comprehensive genomic and epigenomic analysis of ICE syndrome has identified key genes and epigenetic changes associated with the disorder. The study found significant associations between genetic variants and copy number losses in specific genes, as well as promoter hypomethylation leading to epithelioid hyperplasia.

Immature platelet fraction as a clinical predictor for enhanced platelet recovery in patients with dengue fever

Researchers discovered immature platelet fraction as a clinical predictor for enhanced platelet recovery in patients with dengue fever. IPF% can help monitor platelet recovery and identify thrombocytopenia etiology, but recovery is not solely determined by platelet count.

Kennesaw State researcher receives American Heart Association grant to study heart valve disease

Sucosky's research aims to build a device replicating the bicuspid aortic valve to investigate how unusual stress leads to its hardening. The goal is to uncover molecular pathways that could be targeted with pharmaceutical treatments.

Renal transporter genes and uremic toxins in aging cats with chronic kidney disease

Aging cats with chronic kidney disease (CKD) have lower levels of key kidney transporter genes, leading to impaired waste removal. Monitoring these transporters and toxin buildup may help detect CKD early and improve treatment options.

From gender dysphoria to special skills: decoding the link

A study by Sophia University researchers found that individuals with Klinefelter syndrome and sexual minorities exhibited higher sensory hypersensitivity and hyposensitivity compared to controls. These traits were more pronounced in participants with gender dysphoria, where gender identity conflicts with assigned sex at birth.

SABCS: Improved survival for advanced breast cancer, using genomics to identify patients with high risk of recurrence, how race/ethnicity influence the risk of heart failure in early-stage breast cancer and more

Researchers at UCLA Health presented several breakthroughs at the San Antonio Breast Cancer Symposium, including improved survival rates for advanced breast cancer patients who receive trastuzumab deruxtecan (T-DXd), a novel ADC. Additionally, new genomic testing and circulating tumor DNA analysis may help identify high-risk patients a...

New study a first step in understanding current practice patterns of treatment for sarcoidosis

Researchers found variation in practice patterns of sarcoidosis treatment, particularly in the use of nonsteroidal immunosuppressive medications and sequence of administration. The study highlights the need for future randomized trials and comparative effectiveness studies to ascertain optimal treatment algorithms.

New research on chronic inflammation explores potential treatments for chronic diseases and cancer

A recent study by Krishna Rao Maddipati suggests that chronic inflammation has a distinct etiology, differing from acute inflammation. The study proposes increasing anti-inflammatory compounds to treat chronic inflammation, potentially leading to new advancements in cancer therapy.

Cardiologists say benefits of sport and recreation physical activities outweigh risks, even for individuals with heart disease

Research reviews suggest that exercise benefits outlast cardiovascular risks, even in those with heart conditions. Benefits outweigh risks due to medical screening, AEDs, CPR, and legislation. Studies found death rates increased starting from age 35, peaking in males over 45.

Achalasia and esophageal cancer: A case report and literature review

Achalasia is associated with an increased risk of esophageal squamous cell carcinoma, highlighting the need for close surveillance in high-risk patients. Chronic inflammation and food stasis can lead to malignant transformation, emphasizing the importance of timely intervention.

We may be overestimating the association between gut bacteria and disease, machine learning study finds

A recent machine learning study suggests that the association between gut bacteria and disease may be overstated. Instead, changes in microbial load were found to be a key factor in the presence of disease-associated microbial species. This discovery challenges current understanding of the gut microbiome's role in disease etiology.

Air pollution emerges as critical environmental risk factor for autism, emerging topic review finds

A groundbreaking review finds that environmental exposure to air pollutants during prenatal development and early childhood significantly impact autism risk. The study identifies several key pathways through which air pollutants may influence ASD development, including nitrosative stress, neuroinflammation, and epigenetic modifications.

Advances in the treatment of autoimmune hepatitis

Recent advancements in AIH pathogenesis have paved the way for novel therapeutic strategies, including treatments targeting the gut-liver axis and immune system dysregulation. Emerging biologics and immune-modulating drugs show promise in achieving biochemical remission in refractory cases.

A novel probe technology for detecting native albumin activity as a biomarker in patients with hepatitis B-related cirrhosis and hepatocellular carcinoma and its clinical applications

A novel ratiometric fluorescent probe was synthesized to detect native human albumin (HA) activity in patients with hepatitis B cirrhosis and hepatocellular carcinoma. Native HA activity levels were significantly higher in low albumin groups, correlating with increased severity of liver disease.

Surveillance imaging and GAAD/GALAD scores for detection of hepatocellular carcinoma in patients with chronic hepatitis

The GALAD algorithm combines AFP, AFP-L3, and PIVKA-II for HCC detection. Combining GAAD, GALAD, or PIVKA-II with ultrasound improves diagnostic efficiency compared to recommended strategies.

New research confirms that young adults can also have large vessel occlusion strokes thought to happen in older adults, given the rise of stroke risk factors in younger adults

New research confirms that young adults are at risk for large vessel occlusion acute ischemic strokes, which were previously thought to occur mainly in older adults. The study found that nearly 20% of a cohort of 1,200 young adult patients had these strokes, highlighting the need for regular check-ups and prompt treatment.

New guidelines published for evaluating and managing chronic constipation

The American Society of Colon and Rectal Surgeons has issued updated guidelines for evaluating and managing chronic constipation, emphasizing the need for personalized care and a multidisciplinary approach. The guidelines recommend strong and conditional recommendations based on evidence quality.