research magnet Research Magnet news Medical News

View research about

Essential mixed cryoglobulinemia Dentist Paediatric Cardiology Autoimmune dysautonomia Pain Medicine Fitness Inclusion body myositis (IBM) Juvenile myositis (JM) Pathology Sarcoma Colorectal Cancer Alopecia areata Pemphigus Vascular Surgery Cleft Lip Gall Bladder Cancer Dementia Dermatomyositis Progesterone dermatitis Transverse myelitis Sports Medicine Medical Charity ADHD Foot & Ankle Orthopaedics Cosmetic Surgery Interstitial cystitis (IC) Brain Tumor Primary Biliary Cholangitis Endocrinology Subacute bacterial endocarditis (SBE) Leukodystrophy Procedural Dermatology Molecular Genetic Pathology Autoimmune retinopathy Heart Failure Coronary Artery Disease Narcolepsy Peripheral neuropathy Malignant Hypertension Implantology Angina Paediatric Dentistry Transplant Heamatology Pure red cell aplasia (PRCA) Castleman disease (CD) Nephrology Autoimmune encephalomyelitis Chronic Lymphocytic Leukaemia Orthopaedic Surgery Bile Duct Cancer Undifferentiated connective tissue disease (UCTD) Dressler’s syndrome Dermatology Hyperlipidaemia Cold agglutinin disease Musculoskeletal Oncology Cardiothoracic Surgery Doctor Optic neuritis Epilepsy Parkinson’s Disease Surgical Oncology Ocular cicatricial pemphigoid Overactive Bladder Devic’s disease (neuromyelitis optica) Anti-GBM/Anti-TBM nephritis Autoimmune myocarditis Polymyalgia rheumatica Lower GI Guillain Barre Syndrome Temporal arteritis/Giant cell arteritis Low Back Pain Lung Cancer Hand Surgery Paediatric Surgery Hypertriglyceridemia Perivenous encephalomyelitis Neuroendocrine Tumors Antiphospholipid syndrome Spinal Cord Injury Upper GI Biochemical Genetics Microbiology Reflex sympathetic dystrophy COVID-19 Henoch-Schonlein purpura (HSP) Chronic inflammatory demyelinating polyneuropathy (CIDP) Polyglandular syndromes type I, II, III Paediatric ICU Maternal & Fetal Medicine Cancer Hypogammalglobulinemia Endovascular surgery Discoid lupus Hip & Knee Osteoarthritis Asthma Rheumatic fever Parry Romberg syndrome Pediatrics Obesity & Bariatrics Pancreatic Cancer Prediabetes Syncope & Collapse Microscopic polyangiitis (MPA) Hospice And Palliative Medicine Urology Behcet’s disease General Medicine / Internal Medicine Granulomatosis with Polyangiitis Spina Bifida Thoracic Surgery Neonatal & Perinatal Medicine Bladder Cancer Hepatology Ophthalmology Podiatrist Traumatic Brain Injury Coronavirus Transplant Hepatology Clinical Pharmacology Autoimmune orchitis Specialist In Training Chronic recurrent multifocal osteomyelitis (CRMO) Occupational & Environmental Medicine Liver Cancer Vaginal Cancer Clinic Ankylosing spondylitis Neurosurgery Schmidt syndrome General Surgery Hidradenitis Suppurativa (HS) (Acne Inversa) Evans syndrome Obstetrics And Gynecology Chiropractor Dermatological Immunology Pulmonology Stem Cell Research Pyoderma gangrenosum Psychiatry Immunology & Allergy Amyloidosis Critical Care Ulcerative colitis (UC) Retroperitoneal fibrosis Autoimmune inner ear disease (AIED) Peripheral Vascular Disease Depression Undersea & Hyperbaric Medicine Mona Vale ED Acute Myeloid Leukaemia Thyroid eye disease (TED) Herpes gestationis or pemphigoid gestationis (PG) Psoriasis Lupus Macular Degeneration Pernicious anemia (PA) Head & Neck Surgery Geriatric Psychiatry Cardiology Pharmacy Reactive Arthritis Melanoma Psychosomatic Medicine Linear IgA disease (LAD) Chronic Kidney Disease Palliative Medicine Bullous pemphigoid Clinical Cytogenetics Mitochondrial Myopathies Chronic Ischaemic Heart Disease Audiologist Congenital heart block Tropical Medicine Adolescent Medicine Otology Neurotology Dermatitis herpetiformis Juvenile diabetes (Type 1 diabetes) Muscular Dystrophy Clinical Paediatric Genetics Moya Moya Disease Prostate Cancer Myelin Oligodendrocyte Glycoprotein Antibody Disorder Churg-Strauss Syndrome Restless legs syndrome (RLS) ENT Paediatric Physician Pregnancy Reproductive Endocrinology & Infertility Vulval Cancer Giant cell myocarditis Alzheimers Autoimmune oophoritis Sympathetic ophthalmia (SO) Benign Hypertension Aerospace Medicine Speech Pathologist Medical Administration Palindromic rheumatism (PR) Atrial Fibrillation Transplant Nuclear Medicine Women's Health Breast Fibromyalgia Meningitis CREST syndrome Takayasu’s arteritis Osteopathy Relapsing polychondritis Kawasaki disease Ligneous conjunctivitis Huntingtons Disease Goodpasture’s syndrome COPD Bowel Cancer Skin Cancer Mooren’s ulcer Pars planitis (peripheral uveitis) Inflammatory Arthritis Primary sclerosing cholangitis Haematology Rural & Remote Agammaglobulinemia Organ Donation Raynaud’s phenomenon Addiction Psychiatry Histopathology Vogt-Koyanagi-Harada Disease Hashimoto’s thyroiditis Radiation Oncology Paediatric Respiratory Baló disease Craniofacial Surgery Anal Cancer Medical Organisation Chiropractice Infectious Disease Clinical Researcher Laboratory Immunology Sexual Health Medicine Addison’s disease Achalasia Vitiligo Scleroderma Eosinophilic esophagitis (EoE) Parsonage-Turner syndrome Rare Disease Craniofacial Microsomia Immune thrombocytopenic purpura (ITP) Lambert-Eaton syndrome Rare Diseases Coeliac disease Neurodevelopmental Disabilities Sleep Medicine Lichen planus Mircobiology Diabetes & Metabolism Burns Cystic Fibrosis Optometry Spinal Surgery Clinical Cardiac Electrophysiology Complementary Medicine Delirium Physiotherapy Emergency Medicine Brain Injury Medicine Hospital Geriatric Medicine Polymyositis Insulin Resistance Fibrosing alveolitis Anesthesiology Neuro Ophthalmology Axonal & neuronal neuropathy (AMAN) MedicalDirector software Testicular Cancer Schizophrenia Mucha-Habermann disease Rheumatology Womb Cancer Clinical Genetics Adult Reconstructive Orthopaedics Gynecologic Oncology Neonatal Lupus Chronic Myeloid Leukaemia Gynaecology Pediatric Allergy & Immunology Paediatric Emergency Medicine Uveitis & Ocular Immunology Hemolytic anemia Internal Medicine Oesophaegal Cancer Forensic Psychiatry Physiotherapist Paediatric Orthopaedics Oncology Cerebral Atherosclerosis Myeloma cleft palate Provider Postpericardiotomy syndrome Penile Cancer Neurology Queer Health Occupational Therapy Cardiothoracic Intensive Care Chinese Medical Practitioner Cerebrovascular & Skull Base Surgery Disaster Medicine Chagas disease Intensive Care Medicine International Health Sleep Apnoea Glomerulonephritis Psychologist Nutrition Graves’ disease TIA Interventional Radiology Acute Lymphoblastic Leukaemia Thyroid Cancer Dietician Crohn’s disease Sports & Exercise Medicine Scleritis Advanced Heart Failure & Transplant Cardiology Orthodontics Adult Still's disease Dentistry Myelodysplasia Cicatricial pemphigoid Paramedicine Cosmetic Medicine Lichen sclerosus Radiology Multiple Sclerosis Neuro Oncology Child And Adolescent Psychiatry Geriatric Wellness Polyarteritis nodosa Phonetics Hypercholesterolaemia Neurodegenerative Disorders Myocardial infarction Kidney Cancer Stiff person syndrome (SPS) Cataracts Neuro Intensive Care Susac’s syndrome Neuromuscular Medicine Leukocytoclastic vasculitis POEMS syndrome Eosinophilic fasciitis Cogan’s syndrome Thrombocytopenic purpura (TTP) Meniere’s disease Ophthalmic Pathology Endovascular Surgical Neuroradiology Optometrist Audiology Sperm & testicular autoimmunity Carotid Artery occlusion Adult Cardiothoracic Anesthesiology Gastroenterology Giant cell arteritis (temporal arteritis) Simulation Medicine Sjögren’s syndrome Stroke Multifocal Motor Neuropathy (MMN) Autoimmune urticaria HIV / AIDS Female Pelvic Medicine & Reconstructive Surgery Respiratory Medicine IgG4-related sclerosing disease Tolosa-Hunt syndrome (THS) Nurse Juvenile arthritis Celiac disease Diabetes Mellitus Mouth, Head and Neck Cancer Pharmacist Sarcoidosis Autoimmune pancreatitis Oral Health Dermatopathology Laryngeal Cancer Lyme disease chronic Autoimmune hepatitis Paraneoplastic cerebellar degeneration (PCD) Interventional Cardiology Technology Podiatry Endoscopy Stomach Cancer Patient Paroxysmal nocturnal hemoglobinuria (PNH) Psychology Benign mucosal pemphigoid Psoriatic arthritis Endometriosis Obstetric Anesthesiology Healthcare Otolaryngology Bariatric Surgery Coxsackie myocarditis Breast Cancer Nuclear Radiology Applied Dermatology Metabolic Syndrome Cervical Cancer Uterine Cancer Eye Cancer Diagnostic Laboratory Immunology Transplant Pulmonology IgA Nephropathy Public Health Rehabilitation Medicine Erythema nodosum Mesothelioma Robotic Surgery Inflammatory Bowel Disease Clinical Immunology General Practice (Family Medicine) Toxicology ATSI Health Practitioner Non Hodgkin Lymphoma Transplant Nephrology Wheel Travel Medicine Neutropenia Public Health Medicine Musculoskeletal Radiology Retrieval Medicine Blood Cancer Ovarian Cancer Addiction Medicine Plastic Surgery Conference Organiser Osteopath Oral & Maxillofacial Surgery Motor Neuron Disease Occupational Therapist Trauma Cerebral Palsy Autoimmune angioedema

The latest medical research on Clinical Cytogenetics

The research magnet gathers the latest research from around the web, based on your specialty area. Below you will find a sample of some of the most recent articles from reputable medical journals about clinical cytogenetics gathered by our medical AI research bot.

The selection below is filtered by medical specialty. Registered users get access to the Plexa Intelligent Filtering System that personalises your dashboard to display only content that is relevant to you.

Want more personalised results?

Request Access

Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variants.

Neurogenetics

Pregestational population screening of healthy females for copy number variants in DMD gene has raised numerous challenges regarding the interpreta...

Introducing a novel TRAPPC10 gene variant as a potential cause of developmental delay and intellectual disability in an Iranian family.

Neurogenetics

TRAPP complexes are crucial components for intracellular transport and cellular organization. Their role in vesicle trafficking, particularly through their involvement in the secretory pathway, make them more important in neurodevelopmental mechanisms. This study aims to identify a novel genetic variant, associated with developmental delay and intellectual disability by analyzing a consanguineous Iranian family.

Here, we performed whole-exome sequencing on an Iranian family, originating from a small population. The patient presented with severe developmental delay, microcephaly, and behavioral abnormalities. Through our analysis, we discovered a new biallelic variant on a previously introduced gene: TRAPPC10 (NM_003274.5): c.3222 C > A; p.(Cys1074Ter) that is a potential cause for these specific clinical characteristics.

Previous functional analysis suggest that the mutation causes premature termination of protein translation, likely leading to nonsense-mediated decay because of biallelic loss of functional TRAPPC10 protein which leads to severe developmental delay, microcephaly, and behavioral abnormalities such as aggression and autistic traits.

The aim of this research is to discover a novel variant in the TRAPPC10 gene that is responsible for a particular neurodevelopmental condition, dominantly characterized by developmental delay, intellectual disability, and microcephaly. These findings advance the comprehension of TRAPP-related diseases and emphasize the need for further exploration into the impact of TRAPPC10 on the development of the nervous system.

Exploring the Molecular Interaction Between NR2E3 and NR1D1 in Retinitis Pigmentosa: A Docking and Molecular Dynamics Study.

Clinical Laboratory

Retinitis pigmentosa (RP) is a hereditary retinal disorder that gradually leads to vision loss due to photoreceptor cell degeneration. This study aims to investigate the clinical features and genetic underpinnings of RP within a large Iranian family. Our focus centered on mutations in the NR2E3 gene, which plays a critical role in the development and maintenance of the retina.

Twenty-five family members showed symptoms of RP, and fourteen of them underwent clinical examinations conducted by geneticists and ophthalmologists. The DNA samples of five individuals diagnosed with RP from the family were subjected to whole-exome sequencing (WES) as part of the study. The candidate variant identified through WES was subsequently confirmed using bidirectional sequencing in additional family members. Additionally, in silico analysis, including molecular modeling, protein-protein docking, and molecular dynamics simulation (MD), was employed to assess potential pathogenic effects associated with the candidate variants.

Ophthalmic examination revealed night blindness, which is a common symptom among affected individuals. Genetic analysis identified a homozygous missense variant (c.934G>A/p.R311Q) in NR2E3 exon 6, which co-segregates with other affected family members. Furthermore, molecular docking analysis indicated potential disruption in the binding affinity between NR2E3 and NR1D1 proteins. In-depth, molecular dynamics analysis, considering parameters such as RMSD, RMSF, and hydrogen bonding, revealed notable differences between normal and mutant protein complexes.

Exploring the molecular interaction between NR2E3 and NR1D1 provides new insights into the pathogenic mechanism of the p.R311Q mutation in RP.

Epilepsy genetics in the paediatric population of the Eastern Anatolia region of Turkey.

Journal of Neurogenetics

This study investigates the genetic causes of epilepsy in 166 paediatric patients under the age of 16 from the East Anatolian region of Turkey, who...

Impact of Overweight on Renal Prognosis in Malignant Hypertension Patients With Thrombotic Microangiopathy.

Clinical Laboratory

Overweight and obesity is a risk factor for hypertension. Malignant hypertension (MHT) is the most severe form of hypertension, and thrombotic microangiopathy (TMA), one of its complications, has been linked to significant renal outcomes. However, the impact of overweight and obesity on renal prognosis in MHT patients with TMA is not well understood.

This was a prospective cohort enrolled 288 MHT patients with renal TMA from 2008 to 2023. The clinical and histopathological characteristics were recorded based on body mass index (BMI, < 25 and ≥ 25 kg/m2). The outcome was the incidence of kidney failure. The associations of BMI with kidney failure were examined in logistic regression models.

Among 288 patients, 180 (62.5%) progressed to kidney failure, including 113 (68.5%) patients with BMI < 25 kg/m2. Participants with obesity had higher levels of hemoglobin, estimated glomerular filtration rate and C3, but lower levels of serum creatinine and IgA nephropathy. BMI ≥ 25 kg/m2 was associated with a better outcome of kidney failure in MHT patients with TMA (odd ratios [ORs]: 0.49 [95% confidence interval (CI): 0.27-0.91], p = 0.025). Male, uric acid, onion skin lesions, and global sclerosis ratio were correlated with higher risk of kidney failure; serum albumin and treatment with renin-angiotensin system blockers were related to lower risk of kidney failure.

In MHT patients with renal TMA, normal-weight rather than overweight was found to associate with a worse renal prognosis. Management efforts for MHT may be directed toward controlling body weight within a reasonable range for patients.

Clinical potential of epigenetic and microRNA biomarkers in PTSD.

Journal of Neurogenetics

Molecular studies identifying alterations associated with PTSD have predominantly focused on candidate genes or conducted genome-wide analyses, oft...

Comparison of MIB-1-Specific Membrane Staining in Hyalinising Trabecular Tumor Using Mainstream Automated Immunohistochemical Staining Platforms.

Clinical Laboratory

MIB-1, a monoclonal antibody against Ki-67, exhibits specific membrane staining in the immunohistochemistry of hyalinising trabecular tumor (HTT). This specific staining pattern is crucial in diagnosing HTT. Although manual immunohistochemical staining remains the established method for MIB-1 staining, this process is complicated, inconsistent, and prone to false negatives.

This study aimed to explore whether the classical reaction pattern can be replicated by utilizing the current mainstream automated immunohistochemical staining platforms. Furthermore, we examined the effect of different conditions on staining efficiency and their value in clinical diagnosis assistance.

Specimens obtained from eight and six cases of HTT and non-HTT, respectively, from a single center were stained using the manual staining method and the Dako Autostainer Link 48 (AS48), Dako Omnis, Ventana BenchMark ULTRA, and Leica BOND-III automated immunohistochemical staining platforms. The Autostainer Link 48 was found to be the most stable staining platform, while the BenchMark ULTRA with primary antibody incubation at room temperature (RT) and the Omnis platform with antigen retrieval at pH 9.0 were able to reproduce membrane-positive staining for MIB-1 in the HTT specimens.

Our results offer crucial reference value for clinical diagnostic assistance.

An Optimized CRISPR/Cas12a Assay to Facilitate the BRAF V600E Mutation Detection.

Clinical Laboratory

Accurate detection of the BRAF V600E (1799T > A) mutation status can significantly contribute to selecting an optimal therapeutic strategy for diverse cancer types. CRISPR-based diagnostic platforms exhibit simple programming, cost-effectiveness, high sensitivity, and high specificity in detecting target sequences. The goal of this study is to develop a simple BRAF V600E mutation detection method.

We combined the CRISPR/Cas12a system with recombinase polymerase amplification (RPA). Subsequently, several parameters related to CRISPR/Cas12a reaction efficiency were evaluated. Then, we conducted a comparative analysis of three distinct approaches toward identifying BRAF V600E mutations in the clinical samples.

Our data suggest that CRISPR/Cas detection is considerably responsive to variations in buffer conditions. Magnesium acetate (MgOAc) demonstrated superior performance compared to all other examined additive salts. It was observed using 150 nM guide RNA (gRNA) in an optimized reaction buffer containing 14 mM MgOAc, coupled with a reduction in the volumes of PCR and RPA products to 1 μL and 3 μL, respectively, resulted in an enhanced sensitivity. Detection time was decreased to 75 min with a 2% limit of detection (LOD), as evidenced by the results obtained from the blue light illuminator. The CRISPR/Cas12a assay confirmed the real-time PCR results in 31 of 32 clinical samples to identify the BRAF V600E mutation status, while Sanger sequencing detected BRAF V600E mutations with lower sensitivity.

We propose a potential diagnostic approach that is facile, fast, and affordable with high fidelity. This method can detect BRAF V600E mutation with a 2% LOD without the need for a thermocycler.

A Narrative Review of Bedaquiline and Delamanid: New Arsenals Against Multidrug-Resistant and Extensively Drug-Resistant Mycobacterium tuberculosis.

Clinical Laboratory

The treatment of multidrug-resistant (MDR-) and extensively drug-resistant tuberculosis (XDR-TB) is a formidable challenge. Treatment of MDR- and XDR-TB using bedaquiline (BDQ) and delamanid (DLM), two newly introduced medications, is steadily increasing. This narrative review aimed to present a concise overview of the existing information regarding BDQ and DLM, and elucidate their antimicrobial characteristics, resistance mechanisms, synergism with other drugs, and side effects.

To collect the required information about the antimicrobial properties, a search for scientific evidence from the Scopus, PubMed, and Embase databases was performed, and all recently published articles up to May 2024 were considered.

BDQ had potent antimicrobial effects on various types of nontuberculous mycobacteria (NTM), including rapid-growing and slow-growing species, and MDR/XDR Mycobacterium tuberculosis. The mechanisms of BDQ resistance in M. tuberculosis primarily involve mutations in three genes: atpE, mmpR (Rv0678) and pepQ. BDQ may have synergistic effects when combined with DLM, pyrazinamide, and pretomanid/linezolid. BDQ has a low incidence of side effects. The use of BDQ may prolong the QTc interval. Similarly, DLM showed potent antimicrobial effects on NTM and MDR/XDR M. tuberculosis. The main resistance mechanisms to DLM are induced by mutations in fbiA, fbiB, fbiC, fgd1, and ddn genes. The DLM had synergistic effects with BDQ and moxifloxacin. The DLM also has few side effects in some patients including QTc prolongation.

BDQ and DLM are suitable antibiotics with few side effects for the treatment of MDR/XDR-TB. These antibiotics have synergistic effects when combined with other antituberculosis drugs.

Serum Lipid Profile and Electrolytes Reference Intervals for Apparently Healthy Children and Adolescents in Addis Ababa, Ethiopia.

Clinical Laboratory

Accurate reference intervals generated from an apparently healthy population and stratified by crucial variables such as age and gender are required to guarantee appropriate interpretation of test results. Since there were no local reference intervals in the study area, the present study aimed to establish reference intervals on serum lipid profiles and electrolytes for children and adolescents in Addis Ababa.

This community-based cross-sectional study was conducted from April to October 2019. Laboratory analysis was performed using the automatic biochemical analyzer Cobas 6000 (c501) from Roche. According to Clinical and Laboratory Standards Institute (CLSI) guidelines, reference intervals for lipid profile and electrolyte tests for apparently healthy children and adolescents were established. We used a non-parametric method to calculate the 2.5th and 97.5th percentiles with a 90% confidence interval.

In children, the reference intervals for serum potassium, sodium, chloride, calcium, magnesium, and phosphate in mmol/L were 4.37-5.20, 137-145.50, 101.90-107.90, 2.34-2.70, 0.74-0.97, and 1.42-1.85, respectively; and for total cholesterol, triglycerides, low-density lipoprotein, and high-density lipoprotein, the respective values were 100.76-171.70, 44.16-126.36, 60.60-105.60, and 31.60-53.70 in mg/dL, for both genders. For adolescents, the reference intervals were 4.03-5.58, 137-146, 98.90-120.90, 2.39-2.70, 0.73-0.96, and 0.96-1.80 for serum potassium, sodium, chloride, calcium, magnesium, and phosphate in mmol/L, respectively; and 97.20-189.10, 40.50-143.60, 41.70-120.90, and 21.30-57.0 in mg/dL for total cholesterol, triglycerides, low-density lipoprotein, and high-density lipoprotein, respectively, for both genders.

The established reference intervals in the current study revealed that both the lower and upper limits contradicted the manufacturer values as well as the available literature. The study also discovered significant gender differences in reference values for TC, TG, LDL-C, potassium, phosphate, and chloride in the adolescent age groups.

Impact of flexible assertive community treatment model (FACT) on community rehabilitation of schizophrenia in Southern China.

Neurogenetics

Schizophrenia is a group of severe mental illnesses of unknown etiology, most of which are slow or subacute in young adults. 160 adult schizophreni...

Cutoff Values for Glycated Albumin, 1,5-Anhydroglucitol, and Fructosamine as Alternative Markers for Hyperglycemia.

Clinical Laboratory

Glycated albumin (GA), 1,5-anhydroglucitol (1,5-AG), and fructosamine have attracted considerable interest as markers of hyperglycemia. This study aimed to evaluate the optimal cutoff values for GA, 1,5-AG, and fructosamine and to determine their respective diagnostic efficacies in relation to hyperglycemia.

We enrolled 6012 individuals who had undergone fasting blood glucose (FBG) and Hemoglobin A1c (HbA1c) tests along with at least one alternative glycemic marker. Receiver operating characteristic (ROC) curves and the upper or lower limit of the reference range (97.5 or 2.5 percentiles) were used to ascertain the optimal cutoff values. Follow-up data from healthy individuals were used to identify patients who developed diabetes mellitus (DM).

The ROC cutoff values for GA, 1,5-AG, and fructosamine were 13.9%, 13.3 μg/mL, and 278 μmol/L, respectively, with corresponding area under the curve (AUC) values of 0.860, 0.879, and 0.834. The upper limits of the reference intervals for GA and fructosamine were 15.1% and 279 μmol/L, respectively, and the lower limit for 1,5-AG was 5.3 μg/mL. Among the GA cutoff values, the ROC cutoff had the highest sensitivity. Analyzing the follow-up data showed that lowering the GA cutoff from 16.0% to 13.9% identified an additional 40 people with DM progression.

Lowering the GA cutoff values significantly increased the sensitivity of DM diagnosis and enhanced its potential as a screening marker by identifying more individuals with diabetes progression. Conversely, modifications to the cutoff values for 1,5-AG and fructosamine did not confer any discernible diagnostic or predictive advantages.