157 results match your criteria: "Complement-Related Disorders"
Successfully treated C3 glomerulopathy in which protein and genetic analyses were useful for diagnosis.
CEN Case Rep
September 2024
Department of Nephrology, Kurashiki Central Hospital, 1-1-1 Miwa, Kurashiki, 710-8602, Japan.
Article Synopsis
- * A case study demonstrated successful treatment of a patient with C3 glomerulopathy using corticosteroids, resulting in complete remission within two months.
- * Laboratory tests showed low C3 levels and high levels of a protein complex, indicating disease activity, while genetic testing did not reveal any pathogenic variants, emphasizing the importance of complement analysis for diagnosis and treatment planning.
Article Synopsis
- A study explored the mechanisms behind diabetic kidney disease (DKD) in type 2 diabetes patients using advanced mass spectrometry techniques in two cohorts from different continents.
- The research identified urinary biomarkers linked to kidney disease progression, focusing on protein groups that indicated higher risks of worsening kidney function.
- Results revealed that certain urine proteins related to the complement system were strongly associated with faster disease progression, supporting their potential role as biomarkers in DKD assessment.
Pilot investigations into the mechanistic basis for adverse effects of glucocorticoids in dysferlinopathy.
Skelet Muscle
August 2024
Department of Anatomy, Physiology and Human Biology, School of Human Sciences, The University of Western Australia, Perth, WA, Australia.
Article Synopsis
- Dysferlinopathies are a type of muscular dystrophy caused by mutations that lead to a deficiency of the protein dysferlin, resulting in muscle wasting and inflammation, with no available treatments.
- Glucocorticoids, commonly used for reducing inflammation in muscular dystrophies, have been found to worsen conditions in dysferlinopathy patients by accelerating muscle strength loss.
- Research on mice with dysferlin deficiency revealed that glucocorticoid treatment exacerbates muscle damage and alters gene expression related to inflammation and metabolism, indicating the need for alternative therapeutic strategies.
Double-Edged Sword: Exploring the Mitochondria-Complement Bidirectional Connection in Cellular Response and Disease.
Biology (Basel)
June 2024
Centre for Heart Lung Innovation, St. Paul's Hospital, Vancouver, BC V6Z 1Y6, Canada.
Article Synopsis
- Mitochondria play a crucial role in balancing cell life and death, influencing not only normal bodily functions but also the development of various diseases.
- Mitochondria are believed to have evolved from ancient bacteria and share features such as circular DNA and double membranes, which connect them to the immune system's complement pathway that targets bacteria.
- This review examines how mitochondrial dysfunction and the complement system interact, especially through the release of specific molecules, and discusses potential new therapies for diseases related to both mitochondria and the complement system.
Reduced decay-accelerating factor expression promotes complement-mediated cystogenesis in murine ADPKD.
JCI Insight
May 2024
Division of Nephrology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Article Synopsis
- Patients with autosomal dominant polycystic kidney disease (ADPKD) exhibit complement activation, but its role in kidney cyst growth was previously unclear.
- Research using a specific cell line and genetically modified mice showed that lack of the Pkd1 gene leads to increased complement-related genes and faster cyst formation, while its absence delayed cyst growth and reduced inflammation.
- The study suggests that the downregulation of complement regulators due to Pkd1 loss enhances cystogenesis through C5a activation, indicating a potential new target for therapeutic interventions in ADPKD.
Age, sex and Alzheimer's disease: a longitudinal study of 3xTg-AD mice reveals sex-specific disease trajectories and inflammatory responses mirrored in postmortem brains from Alzheimer's patients.
Alzheimers Res Ther
June 2024
Department of Neurology, Geisel School of Medicine, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA.
Article Synopsis
- * In a study using male and female mice, researchers found that 3xTg-AD females outlived their male counterparts but displayed typical Alzheimer's symptoms, while males exhibited liver inflammation and an immune response without pronounced Alzheimer's pathology.
- * The research highlights sex-specific differences in Alzheimer's progression, indicating that males and females have distinct molecular signatures, which could inform future therapeutic strategies and biomarker identification for the disease.
Disseminated Cryptococcosis Post Eculizumab Therapy: A Case Report and Literature Review.
Cureus
April 2024
Infectious Disease, Valley Health System, Las Vegas, USA.
Article Synopsis
- Eculizumab is a biologic drug used to treat disorders like generalized myasthenia gravis by blocking a component of the immune system (C5 complement), which helps prevent infections.
- Patients receiving eculizumab should be vaccinated against certain infections because it can increase their vulnerability to encapsulated organisms.
- A case study of a 34-year-old man highlights the risk of cryptococcosis in patients on eculizumab, as he developed a fungal infection despite being HIV-negative, underscoring the need for vigilance in diagnosing such infections.
Autoimmune Hemolytic Anemias: Classifications, Pathophysiology, Diagnoses and Management.
Int J Mol Sci
April 2024
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON M5B 1W8, Canada.
Article Synopsis
- Autoimmune hemolytic anemias (AIHAs) involve the immune system producing antibodies that attack the body's own red blood cells, categorized mainly into warm and cold antibody types, as well as mixed forms.
- Treatment varies depending on the type, often including glucocorticoids and monoclonal antibodies, with the direct antiglobulin test (DAT) playing a key role in diagnosis.
- Additional complexities include drug-induced AIHA and conditions like passenger lymphocyte syndrome, highlighting the need for tailored management strategies based on the specific AIHA category.
Atypical Hemolytic Uremic Syndrome Triggered by Acute Pancreatitis in a Patient with a Membrane Cofactor Protein (CD46) Genetic Variant.
Intern Med
October 2024
Department of Nephrology, Kansai Electric Power Hospital, Japan.
Article Synopsis
- * The patient received plasma exchange therapy and hemodialysis, which successfully improved symptoms like low platelets and anemia, preventing progression to end-stage kidney disease.
- * This case illustrates the "multiple hit theory," suggesting that a combination of genetic predisposition and additional health issues, like pancreatitis, are needed for aHUS to develop.
Genetic justification of COVID-19 patient outcomes using DERGA, a novel data ensemble refinement greedy algorithm.
J Cell Mol Med
February 2024
Department of Clinical Therapeutics, Medical School, Faculty of Medicine, National Kapodistrian University of Athens, Athens, Greece.
Article Synopsis
- Complement inhibition shows promise for COVID-19 treatment, and the study aims to identify key genetic variants for predicting patient outcomes using an artificial intelligence-based tool.
- Genetic data from 204 hospitalized COVID-19 patients were analyzed, leading to the identification of 30 predictive variants and a 97% accuracy rate in predicting whether patients would need ICU admission.
- The study highlights the effectiveness of the alpha-index and the DERGA algorithm in accurately determining the relevance of numerous genetic variants for disease outcome prediction.
Idiopathic pulmonary fibrosis-specific Bayesian network integrating extracellular vesicle proteome and clinical information.
Sci Rep
January 2024
Department of Biomedical Data Intelligence, Kyoto University Graduate School of Medicine, 54 Shogoin Kawahara-Cho, Sakyo-Ku, Kyoto, 606-8507, Japan.
Article Synopsis
- Idiopathic pulmonary fibrosis (IPF) is a serious lung disease that leads to extensive lung scarring and has a grim outlook for patients, with unclear molecular mechanisms and their links to clinical signs.
- Researchers created a Bayesian network using data from 206 IPF patients and 36 healthy controls, combining proteome data from serum, lab tests, and clinical findings to visualize relationships between biomarkers and symptoms.
- Key findings identified specific biomolecules related to IPF, such as TGF-β signaling, fibrosis markers, and clinical symptoms, suggesting potential pathways for understanding the disease and developing targeted therapies.
Age, Sex and Alzheimer's disease: A longitudinal study of 3xTg-AD mice reveals sex-specific disease trajectories and inflammatory responses mirrored in postmortem brains from Alzheimer's patients.
bioRxiv
December 2023
Department of Neurology, Geisel School of Medicine, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA.
Article Synopsis
- Aging and sex differences significantly impact the development and progression of late-onset Alzheimer's disease, with women being nearly twice as likely to develop it than men and experiencing greater cognitive decline despite longer lifespans with the disease.
- A study was conducted using 3xTg-AD and WT control mice, which involved collecting brain, liver, spleen, and plasma samples for histological analysis and RNA sequencing to identify distinct pathological signatures and gene expression differences between male and female subjects.
- Results indicated that female mice with Alzheimer's exhibited more traditional neuropathological features of the disease, while male mice displayed more signs of inflammation in other organs, suggesting that different biological aging processes in each sex may
Proteomic profiling of aqueous humor-derived exosomes in Vogt-Koyanagi-Harada disease and Behcet's uveitis.
Clin Immunol
February 2024
Department of Ophthalmology, The First Afliated Hospital of Zhengzhou University, Henan Province Eye Hospital, Henan International Joint Research Laboratory for Ocular Immunology and Retinal Injury Repair, Zhengzhou, Henan Province, PR China; The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Lab of Ophthalmology, Chongqing Eye Institute, Chongqing Branch (Municipality Division) of National Clinical Research Center for Ocular Diseases, Chongqing, PR China. Electronic address:
Article Synopsis
- This study focuses on Vogt-Koyanagi-Harada (VKH) disease and Behcet's uveitis (BU), two serious conditions that can threaten vision due to uveitis.
- Researchers conducted a quantitative analysis of proteins found in exosomes from the aqueous humor of 84 patients, identifying 65 differentially expressed proteins in VKH and 40 in BU.
- The study highlights the role of complement-related pathways in these diseases, with a specific emphasis on the complement C1q subcomponent subunit B (C1QB), suggesting that targeting these pathways could lead to potential treatments.
The complement cascade in lung injury and disease.
Respir Res
January 2024
1st Department of Critical Care Medicine & Pulmonary Services, GP Livanos and M Simou Laboratories, Evangelismos Hospital, National and Kapodistrian University of Athens, 3, Ploutarchou St., 10675, Athens, Greece.
Background: The complement system is an important arm of immune defense bringing innate and adaptive immunity. Although originally regarded as a major complementary defense mechanism against pathogens, continuously emerging evidence has uncovered a central role of this complex system in several diseases including lung pathologies.
Main Body: Complement factors such as anaphylatoxins C3a and C5a, their receptors C3aR, C5aR and C5aR2 as well as complement inhibitory proteins CD55, CD46 and CD59 have been implicated in pathologies such as the acute respiratory distress syndrome, pneumonia, chronic obstructive pulmonary disease, asthma, interstitial lung diseases, and lung cancer.
Complement gene mutations in children with C3 glomerulopathy: do they affect the response to mycophenolate mofetil?
Pediatr Nephrol
May 2024
Department of Pediatric Nephrology, Erciyes University Medical Faculty, Kayseri, Turkey.
Article Synopsis
- C3 glomerulopathy (C3G) is a kidney disease influenced by genetic factors, and this study explores the differences in clinical outcomes among pediatric patients with and without mutations in complement-related genes.
- Among 60 patients studied, 17 had genetic mutations with the CFH gene being the most common; those with mutations typically showed asymptomatic urinary issues and were diagnosed at an older age.
- Despite differences in presentation, both groups had similar long-term kidney survival and response to mycophenolate mofetil treatment, indicating that genetic mutations may not significantly impact treatment outcomes.
Neural-Cardiac Inflammasome Axis after Traumatic Brain Injury.
Pharmaceuticals (Basel)
September 2023
Department of Neurological Surgery and The Miami Project to Cure Paralysis, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Article Synopsis
- * Researchers found that severe TBI in mice led to increased levels of inflammasome proteins in the heart, indicating that TBI triggers an inflammatory response affecting both brain and heart tissues.
- * Serum-derived extracellular vesicles (EVs) from injured patients were shown to carry signaling proteins that activate inflammasomes in cardiac cells, suggesting that these EVs play a crucial role in the inflammation observed in the heart after TBI.
Bioinformatics and system biology approach to identify the influences of SARS-CoV-2 on metabolic unhealthy obese patients.
Front Mol Biosci
October 2023
Division of Liver Surgery, Department of General Surgery and Laboratory of Liver Surgery, and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, China.
Article Synopsis
- - The study explores the link between metabolic unhealthy obesity (MUO) and severe complications from COVID-19, highlighting that patients with MUO face higher risks and mortality rates from the virus.
- - Using bioinformatics, researchers analyzed two datasets to identify differentially expressed genes (DEGs) and common hub genes, focusing on how these relate to inflammation and immune response specifically in MUO cases.
- - The research identified key hub genes and potential therapeutic agents, such as Paricalcitol and Dexamethasone, offering new insights for treating COVID-19 and MUO concurrently.
Evaluation of the significance of complement-related genes mutations in atypical postinfectious glomerulonephritis: a pilot study.
Int Urol Nephrol
April 2024
National Clinical Research Center for Kidney Disease, Jinling Hospital, Nanjing Medical University, 305 East Zhongshan Road, Nanjing, 210018, Jiangsu, China.
Article Synopsis
- Atypical C3-PIGN is characterized by C3-dominant glomerular deposition, hypocomplementemia, and gene mutations related to the complement pathway, with patients showing signs like hematuria and proteinuria.
- The study assessed six atypical C3-PIGN patients, all ASO-positive, and identified mutations in several complement-related genes without any presence of complement-related antibodies.
- Findings indicate that while prognosis is generally good, recovery can take longer, emphasizing the need for closer medical attention and potentially faster recovery through glucocorticoid therapy.
[Novel therapeutic agents for hemolytic anemia].
Rinsho Ketsueki
November 2023
Department of Hematology and Oncology, Graduate School of Medicine, Osaka University.
Article Synopsis
- Various diseases linked to abnormalities in complement molecules (complementopathies) are being targeted by new therapies called anti-complement agents.
- Paroxysmal nocturnal hemoglobinuria (PNH) is a specific condition caused by a lack of complement regulatory factors, making it a main focus for these treatments; eculizumab, the first anti-complement agent, was approved for PNH in 2007.
- New anti-complement agents are currently in development for PNH and other diseases, including the recently approved sutimlimab for cold agglutinin disease, an autoimmune hemolytic anemia.
Atypical Hemolytic-Uremic Syndrome: Genetic Basis, Clinical Manifestations, and a Multidisciplinary Approach to Management.
J Multidiscip Healthc
August 2023
Division of Pediatric Nephrology, Akron Children's Hospital, Akron, OH, USA.
Article Synopsis
- Hemolytic uremic syndrome (HUS) is a disorder characterized by a combination of hemolytic anemia, low platelet count, and acute kidney injury, often caused by microthrombi that damage blood vessel linings.
- HUS has different classifications: infectious (commonly from Shiga toxin-producing E. coli), secondary (linked to conditions like cancer or pregnancy), and atypical (linked to genetic mutations affecting the immune system).
- Management of HUS requires a multidisciplinary approach due to potential extra-renal complications, with eculizumab being the primary treatment, while specialized care may be needed for other organ systems.
34-kDa salivary protein enhances duck Tembusu virus infectivity in the salivary glands of Aedes albopictus by modulating the innate immune response.
Sci Rep
June 2023
Animal Vector-Borne Disease Research Unit, Veterinary Parasitology Unit, Department of Veterinary Pathology, Faculty of Veterinary Science, Chulalongkorn University, Bangkok, 10330, Thailand.
Article Synopsis
- Duck Tembusu virus (DTMUV) is a flavivirus carried by Aedes albopictus mosquitoes that poses a potential threat to both poultry and humans through mosquito bites.
- Research identified a gene (AALF004421), which produces a 34-kDa salivary protein in mosquitoes, suggesting that this protein enhances DTMUV infection by suppressing the mosquito's antiviral immune response.
- Findings indicate that targeting the 34-kDa protein could aid in controlling DTMUV replication in mosquitoes, making it a potential focus for future research and disease management strategies.
A case of malignant hypertension as a presentation of atypical hemolytic uremic syndrome.
Clin Nephrol Case Stud
April 2023
Department of Nephrology, Osaka Red Cross Hospital, Osaka, and.
Article Synopsis
- Malignant hypertension (mHTN) can severely affect multiple organs, particularly the kidneys, and is linked to conditions like thrombotic microangiopathy (TMA), with new evidence suggesting genetic factors may play a role.
- A case study describes a 47-year-old man with severe hypertension and kidney failure who was diagnosed with TMA associated with mHTN and found to have a genetic mutation related to atypical hemolytic uremic syndrome (aHUS).
- The patient underwent plasma exchange and hemodialysis, eventually improving renal function without needing specific treatment like eculizumab, showing no recurrence over a 3-year follow-up.
The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases.
Eur J Hum Genet
July 2023
Unité Mixte de Recherche S1155, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris, France.
DIA-based technology explores hub pathways and biomarkers of neurological recovery in ischemic stroke after rehabilitation.
Front Neurol
March 2023
Department of Neurology, Zhujiang Hospital, Southern Medical University, Guangzhou, China.
Article Synopsis
- Ischemic stroke (IS) causes significant long-term disabilities, and there is a need for better biomarkers to assess and optimize rehabilitation treatments beyond standard scales and imaging.
- Researchers utilized data-independent acquisition (DIA) technology to identify differentially expressed proteins (DEPs) before and after rehabilitation and performed analyses to uncover important biological pathways and interactions related to neurological recovery.
- Analysis revealed 22 DEPs and highlighted key pathways, including those related to inflammation, thrombosis, and immune responses, as crucial for improving neurological function post-stroke rehabilitation.
Transcriptome analysis of liver, gill and intestine in rainbow trout (Oncorhynchus mykiss) symptomatically or asymptomatically infected with Vibrio anguillarum.
Fish Shellfish Immunol
April 2023
Key Laboratory of Mariculture (Ocean University of China), Ministry of Education (KLMME), Ocean University of China, Qingdao, China. Electronic address:
Article Synopsis
- * A study investigated the immune response of rainbow trout after being infected with Vibrio anguillarum by classifying them into symptomatic and asymptomatic groups and analyzing their tissues using RNA-Seq technology.
- * Findings indicate that symptomatic trout showed active immune responses with gene down-regulation and apoptosis, while asymptomatic trout had enhanced immune defenses and up-regulated metabolism, suggesting that rapid immune responses can protect against infection but prolonged inflammation may cause tissue damage.