keyword
https://read.qxmd.com/read/38585969/large-scale-network-analysis-of-the-cerebrospinal-fluid-proteome-identifies-molecular-signatures-of-frontotemporal-lobar-degeneration
#21
Rowan Saloner, Adam Staffaroni, Eric Dammer, Erik C B Johnson, Emily Paolillo, Amy Wise, Hilary Heuer, Leah Forsberg, Argentina Lario Lago, Julia Webb, Jacob Vogel, Alexander Santillo, Oskar Hansson, Joel Kramer, Bruce Miller, Jingyao Li, Joseph Loureiro, Rajeev Sivasankaran, Kathleen Worringer, Nicholas Seyfried, Jennifer Yokoyama, William Seeley, Salvatore Spina, Lea Grinberg, Lawren VandeVrede, Peter Ljubenkov, Ece Bayram, Andrea Bozoki, Danielle Brushaber, Ciaran Considine, Gregory Day, Bradford Dickerson, Kimiko Domoto-Reilly, Kelley Faber, Douglas Galasko, Daniel Geschwind, Nupur Ghoshal, Neill Graff-Radford, Chadwick Hales, Lawrence Honig, Ging-Yuek Hsiung, Edward Huey, John Kornak, Walter Kremers, Maria Lapid, Suzee Lee, Irene Litvan, Corey McMillan, Mario Mendez, Toji Miyagawa, Alexander Pantelyat, Belen Pascual, Henry Paulson, Leonard Petrucelli, Peter Pressman, Eliana Ramos, Katya Rascovsky, Erik Roberson, Rodolfo Savica, Allison Snyder, A Campbell Sullivan, Carmela Tartaglia, Marijne Vandebergh, Bradley Boeve, Howie Rosen, Julio Rojas, Adam Boxer, Kaitlin Casaletto
The pathophysiological mechanisms driving disease progression of frontotemporal lobar degeneration (FTLD) and corresponding biomarkers are not fully understood. We leveraged aptamer-based proteomics (> 4,000 proteins) to identify dysregulated communities of co-expressed cerebrospinal fluid proteins in 116 adults carrying autosomal dominant FTLD mutations ( C9orf72 , GRN , MAPT ) compared to 39 noncarrier controls. Network analysis identified 31 protein co-expression modules. Proteomic signatures of genetic FTLD clinical severity included increased abundance of RNA splicing (particularly in C9orf72 and GRN ) and extracellular matrix (particularly in MAPT ) modules, as well as decreased abundance of synaptic/neuronal and autophagy modules...
March 28, 2024: Research Square
https://read.qxmd.com/read/38581464/arterial-hypertension-in-infants-with-congenital-diaphragmatic-hernia-following-surgical-repair
#22
JOURNAL ARTICLE
Clara Engel, Judith Leyens, Bartolomeo Bo, Lennart Hale, Hannah Lagos Kalhoff, Lotte Lemloh, Andreas Mueller, Florian Kipfmueller
Pulmonary hypertension (PH) and cardiac dysfunction are established comorbidities of congenital diaphragmatic hernia (CDH). However, there is very little data focusing on arterial hypertension in CDH. This study aims to investigate the incidence of arterial hypertension in neonates with CDH at hospital discharge. Archived clinical data of 167 CDH infants who received surgical repair of the diaphragmatic defect and survived for > 60 days were retrospectively analyzed. Blood pressure (BP) values were averaged for the last 7 days before discharge and compared to standard BP values for sex, age, and height provided by the AHA in 2004...
April 6, 2024: European Journal of Pediatrics
https://read.qxmd.com/read/38579194/first-use-of-axl-targeting-in-metastatic-refractory-adenoid-cystic-carcinoma-a-case-report
#23
JOURNAL ARTICLE
Camilla O Hoff, Eduardo Andreazza Dal Lago, Juliana Mota Siqueira, Luana G de Sousa, Adel K El-Naggar, Jordi Rodon Ahnert, Renata Ferrarotto
First use of AXL-targeting in adenoid cystic carcinoma (ACC); with positive results, ACC now included in AXL studies.
April 2024: JCO Precision Oncology
https://read.qxmd.com/read/38570096/costic-acid-a-sesquiterpene-from-nectandra-barbellata-lauraceae-attenuates-sponge-implant-induced-inflammation-angiogenesis-and-collagen-deposition-in-vivo
#24
JOURNAL ARTICLE
Bruno Antonio Ferreira, Francyelle Borges Rosa de Moura, Isabela Silva Cassimiro, Vinicius Silva Londero, Marina de Monroe Gonçalves, João Henrique Ghilardi Lago, Fernanda de Assis Araújo
Sesquiterpenes are a class of metabolites derived from plant species with immunomodulatory activity. In this study, we evaluated the effects of treatment with costic acid on inflammation, angiogenesis, and fibrosis induced by subcutaneous sponge implants in mice. One sponge disc per animal was aseptically implanted in the dorsal region of the mice and treated daily with costic acid (at concentrations of 0.1, 1, and 10 μg diluted in 10 μL of DMSO 0.5%) or DMSO 0.5% (control group). After 9 days of treatment, the animals were euthanized, and the implants collected for further analysis...
April 1, 2024: Fitoterapia
https://read.qxmd.com/read/38567195/prevalence-of-chronic-pulmonary-aspergillosis-in-two-2-tuberculosis-treatment-clinics-in-lagos-nigeria-a-prospective-longitudinal-study
#25
JOURNAL ARTICLE
Adeyinka A Davies, Abiola O Adekoya, Oluwaseyi J Balogun, Iriagbonse I Osaigbovo, Augustina Nwosu, Titilola Gbaja-Biamila, Olubunmi Osinupebi, Jean-Pierre Gangneux, Rita O Oladele
BACKGROUND: Chronic pulmonary aspergillosis (CPA) is an underrecognized but common complication of pulmonary tuberculosis. In Nigeria, a tuberculosis-endemic country, there is currently no provision to monitor the development of CPA in patients treated for tuberculosis. This study determined the prevalence and incidence of CPA in Lagos, Nigeria. METHODS: A prospective longitudinal study of patients with previously managed tuberculosis was conducted between June 2021 and May 2022...
April 2024: Open Forum Infectious Diseases
https://read.qxmd.com/read/38566815/genomic-analysis-in-chilean-patients-with-suspected-rett-syndrome-keep-a-broad-differential-diagnosis
#26
JOURNAL ARTICLE
Florencia Brito, Catalina Lagos, Jessica Cubillos, Joan Orellana, Mallen Gajardo, Daniela Böhme, Gonzalo Encina, Gabriela M Repetto
Introduction: Rett syndrome (RTT, MIM #312750) is a rare genetic disorder that leads to developmental regression and severe disability and is caused by pathogenic variants in the MECP2 gene. The diagnosis of RTT is based on clinical features and, depending on resources and access, on molecular confirmation. There is scarce information on molecular diagnosis from patients in Latin America, mostly due to limited availability and coverage of genomic testing. This pilot study aimed to implement genomic testing and characterize clinical and molecular findings in a group of Chilean patients with a clinical diagnosis of RTT...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38566764/variants-in-brca1-2-in-a-hospital-based-cohort-in-chile-and-national-literature-review
#27
JOURNAL ARTICLE
Fernanda J Martin, Isabel M Saffie, Mabel A Hurtado, Diana Avila-Jaque, Rodrigo A Lagos, Carolina A Selman, Jonathan Z Huserman, Valentina A Castillo, Badir J Chahuán
PURPOSE: The aim was to assess the diagnostic yield of next generation sequencing (NGS) multi-gene panels for breast and ovarian cancer in a high-complexity cancer centre in Chile. Additionally, our goal was to broaden the genotypic spectrum of BRCA variants already identified in Chilean families. METHODS: Retrospective analysis was conducted on the genetic test results of 722 individuals from Fundación Arturo López Pérez's genetic counselling unit between 2016 and 2021...
2024: Ecancermedicalscience
https://read.qxmd.com/read/38563436/effect-of-a-home-base-core-stability-exercises-in-hereditary-ataxia-a-randomized-controlled-trial-a-pilot-randomized-controlled-trial
#28
JOURNAL ARTICLE
Rosa Cabanas-Valdés, Helena Fernández-Lago, Selma Peláez-Hervás, Laura Serra-Rusiñol, Carlos López-de-Celis, Maria Masbernat-Almenara
BACKGROUND: Core stability exercises (CSE) have been shown to be effective in improving trunk function in several neurological diseases, but the evidence is scarce on Hereditary Ataxias (HA). OBJECTIVE: To evaluate the effectiveness of a 5-week home-based CSE program in terms of ataxia severity, trunk function, balance confidence, gait speed, lower limb motor function, quality of life, health status and falls rate in HA individuals at short- and long-term. METHODS: This is an assessor-blind randomized controlled clinical trial parallel group 1:1...
April 2, 2024: Movement Disorders Clinical Practice
https://read.qxmd.com/read/38562963/modulatory-actions-of-echinococcus-granulosus-antigen-b-on-macrophage-inflammatory-activation
#29
JOURNAL ARTICLE
Ana Maite Folle, Sofía Lagos Magallanes, Martín Fló, Romina Alvez-Rosado, Federico Carrión, Cecilia Vallejo, David Watson, Josep Julve, Gualberto González-Sapienza, Otto Pristch, Andrés González-Techera, Ana María Ferreira
Cestodes use own lipid-binding proteins to capture and transport hydrophobic ligands, including lipids that they cannot synthesise as fatty acids and cholesterol. In E. granulosus s.l., one of these lipoproteins is antigen B (EgAgB), codified by a multigenic and polymorphic family that gives rise to five gene products (EgAgB8/1-5 subunits) assembled as a 230 kDa macromolecule. EgAgB has a diagnostic value for cystic echinococcosis, but its putative role in the immunobiology of this infection is still poorly understood...
2024: Frontiers in Cellular and Infection Microbiology
https://read.qxmd.com/read/38562394/predictive-value-of-transrectal-ultrasonic-doppler-and-elastographic-features-in-prostate-cancer-detection-in-lagos-university-teaching-hospital
#30
JOURNAL ARTICLE
Abraham T Oladimeji, Emmanuel A Jeje, Rufus W Ojewola, Adekunle A Adeyomoye, Ozoemena S Oboke, Moses A Ogunjimi, Kehinde H Tijani
INTRODUCTION: This study aimed at determining the predictive value (PV) of transrectal ultrasonic Doppler and elastographic features in prostate cancer (PCa) detection among patients in Lagos University Teaching Hospital. MATERIALS AND METHODS: This prospective study involved patients that underwent evaluation for PCa. Participants had digital rectal examination (DRE), prostate-specific antigen (PSA) assay, and transrectal ultrasound-guided prostate biopsy using colour Doppler (CD) and elastography...
2024: Journal of the West African College of Surgeons
https://read.qxmd.com/read/38562387/prevalence-of-dry-eye-disease-in-type-2-diabetic-and-non-diabetics-a-cross-sectional-hospital-based-study
#31
JOURNAL ARTICLE
Sedoten Dagbeyon Bashorun, Bolanle Grace Balogun, Olajumoke Ibidapo, Adedapo Olufemi Bashorun
AIMS AND OBJECTIVES: Dry eye disease (DED) is a common condition that affects the quality of life of may individuals. This study aims to estimate the prevalence of DED and identify potential risk factors in adult patients seeking care at Lagos State University Teaching Hospital., Nigeria. MATERIALS AND METHODS: This was a cross-sectional, hospital-based study that aimed to determine the prevalence of DED in type 2 diabetic and non-diabetic patients. A total of 200 adult participants-100 with type 2 diabetes and 100 non-diabetic patients, were recruited into the study...
2024: Journal of the West African College of Surgeons
https://read.qxmd.com/read/38562385/prevalence-of-anaerobic-bacteria-in-surgical-site-infections-in-lagos-university-teaching-hospital
#32
JOURNAL ARTICLE
Stella Tochukwu Chukwuma, Olanrewaju Samuel Balogun, Oyinlola O Oduyebo, Philip O Oshun, Chioma S Osuagwu, Vincent O Rotimi
BACKGROUND: Surgical site infection (SSI) is the second most common cause of nosocomial infection, after urinary tract infection. Sequelae of SSI include increased healthcare costs and worse patient outcomes. There is a paucity of research studies on the impact of anaerobic organisms on SSIs in Nigeria. The aim of this study was to determine the role of anaerobic bacteria in SSI encountered at the Lagos University Teaching Hospital (LUTH). MATERIALS AND METHODS: A total of 438 patients were consecutively recruited into this study from general surgery, obstetrics and gynaecology and paediatric units of the LUTH from 1 July through 31 December 2019...
2024: Journal of the West African College of Surgeons
https://read.qxmd.com/read/38556444/mouse-model-of-secondary-cystic-echinococcosis
#33
JOURNAL ARTICLE
María Clara González-Porcile, Ana Clara Muniz-Lagos, Marcela Alejandra Cucher, Gustavo Mourglia-Ettlin
Cystic echinococcosis (CE) is a parasitic zoonosis caused by the larval stage of the cestode Echinococcus granulosus sensu lato (s. l.), a genetic complex composed of five species: E. granulosus sensu stricto (s. s.), E. equinus, E. ortleppi, E. canadensis, and E. felidis. The parasite requires two mammalian hosts to complete its life cycle: a definitive host (mainly dogs) harboring the adult parasite in its intestines, and an intermediate host (mostly farm and wild ungulates) where hydatid cysts develop mainly in the liver and lungs...
2024: Methods in Cell Biology
https://read.qxmd.com/read/38555298/a-conserved-nr5a1-responsive-enhancer-regulates-sry-in-testis-determination
#34
JOURNAL ARTICLE
Denis Houzelstein, Caroline Eozenou, Carlos F Lagos, Maëva Elzaiat, Joelle Bignon-Topalovic, Inma Gonzalez, Vincent Laville, Laurène Schlick, Somboon Wankanit, Prochi Madon, Jyotsna Kirtane, Arundhati Athalye, Federica Buonocore, Stéphanie Bigou, Gerard S Conway, Delphine Bohl, John C Achermann, Anu Bashamboo, Ken McElreavey
The Y-linked SRY gene initiates mammalian testis-determination. However, how the expression of SRY is regulated remains elusive. Here, we demonstrate that a conserved steroidogenic factor-1 (SF-1)/NR5A1 binding enhancer is required for appropriate SRY expression to initiate testis-determination in humans. Comparative sequence analysis of SRY 5' regions in mammals identified an evolutionary conserved SF-1/NR5A1-binding motif within a 250 bp region of open chromatin located 5 kilobases upstream of the SRY transcription start site...
March 30, 2024: Nature Communications
https://read.qxmd.com/read/38554286/benzofurans-as-acetylcholinesterase-inhibitors-for-treating-alzheimer-s-disease-synthesis-in-vitro-testing-and-in-silico-analysis
#35
JOURNAL ARTICLE
Arturo Coaviche-Yoval, Ricardo Tovar-Miranda, Jessica E Rodríguez, Jesus A Lagos-Cruz, Héctor Luna, Erik Andrade-Jorge, José Guadalupe Trujillo-Ferrara
Alzheimer's disease (AD) is a neurodegenerative disorder and the leading cause of dementia worldwide. It is characterized by a progressive decline in cholinergic neurotransmission. During the development of AD, acetylcholinesterase (AChE) binds to β-amyloid peptides to form amyloid fibrils, which aggregate into plaque deposits. These complexes are cytotoxic for the brain, causing impairment of memory, attention, and cognition. AChE inhibitors are the main treatment for AD, but their effect is only palliative...
March 30, 2024: ChemMedChem
https://read.qxmd.com/read/38550501/incidence-and-antepartum-risk-factors-of-severe-postpartum-haemorrhage-in-anaemic-pregnant-women-in-lagos-nigeria-a-secondary-cohort-analysis
#36
JOURNAL ARTICLE
Kehinde S Okunade, Olufemi A Oyedeji, Olusola F Olowoselu, Adebola Adejimi, Iyabo Ademuyiwa, Ayokunle M Olumodeji, Hameed Adelabu, Aloy Ugwu, Muisi Adenekan, Ayodeji A Oluwole
BACKGROUND: The magnitude and risk factors for postpartum haemorrhage (PPH) have been extensively investigated, although little is currently known about the incidence and predictors of severe PPH, specifically among women affected by prenatal anaemia in Nigeria. OBJECTIVES: The study determined the incidence and antepartum risk factors of severe PPH in anaemic pregnant women in five health institutions in Lagos, Southwest Nigeria. METHODS: A secondary analysis was performed using the data of pregnant women with anaemia from the " Predict-PPH " study that was conducted between January and June 2023...
February 2024: Curēus
https://read.qxmd.com/read/38548737/microevolution-reinfection-and-highly-complex-genomic-diversity-in-patients-with-sequential-isolates-of-mycobacterium-abscessus
#37
JOURNAL ARTICLE
Sergio Buenestado-Serrano, Miguel Martínez-Lirola, Marta Herranz-Martín, Jaime Esteban, Antonio Broncano-Lavado, Andrea Molero-Salinas, Amadeo Sanz-Pérez, Jesús Blázquez, Alba Ruedas-López, Carlos Toro, Paula López-Roa, Diego Domingo, Ester Zamarrón, María Jesús Ruiz Serrano, Patricia Muñoz, Laura Pérez-Lago, Darío García de Viedma
Mycobacterium abscessus is an opportunistic, extensively drug-resistant non-tuberculous mycobacterium. Few genomic studies consider its diversity in persistent infections. Our aim was to characterize microevolution/reinfection events in persistent infections. Fifty-three sequential isolates from 14 patients were sequenced to determine SNV-based distances, assign resistance mutations and characterize plasmids. Genomic analysis revealed 12 persistent cases (0-13 differential SNVs), one reinfection (15,956 SNVs) and one very complex case (23 sequential isolates over 192 months), in which a first period of persistence (58 months) involving the same genotype 1 was followed by identification of a genotype 2 (76 SNVs) in 6 additional alternating isolates; additionally, ten transient genotypes (88-243 SNVs) were found...
March 28, 2024: Nature Communications
https://read.qxmd.com/read/38547398/hypervirulent-klebsiella-pneumoniae-employs-genomic-island-encoded-toxins-against-bacterial-competitors-in-the-gut
#38
JOURNAL ARTICLE
Yi Han Tan, Patricio Arros, Camilo Berríos-Pastén, Indrik Wijaya, Wilson H W Chu, Yahua Chen, Guoxiang Cheam, Ahmad Nazri Mohamed Naim, Andrés E Marcoleta, Aarthi Ravikrishnan, Niranjan Nagarajan, Rosalba Lagos, Yunn-Hwen Gan
The hypervirulent lineages of Klebsiella pneumoniae (HvKp) cause invasive infections such as Klebsiella-liver abscess. Invasive infection often occurs after initial colonisation of the host gastrointestinal tract by HvKp. Over 80% of HvKp isolates belong to the clonal group 23 sublineage I that has acquired genomic islands GIE492 and ICEKp10. Our analysis of 12,361 K. pneumoniae genomes revealed that genomic islands GIE492 and ICEKp10 are co-associated with the CG23-I and CG10118 HvKp lineages. GIE492 and ICEKp10 enable HvKp to make a functional bacteriocin microcin E492 (mccE492) and the genotoxin colibactin respectively...
March 28, 2024: ISME Journal
https://read.qxmd.com/read/38544908/environmental-exposure-to-trace-elements-and-heavy-metals-preceding-the-clinical-onset-of-inflammatory-bowel-disease
#39
JOURNAL ARTICLE
Iago Rodríguez-Lago, José Luis Cabriada, Ainhoa Rodríguez, Manuel Barreiro-de Acosta
BACKGROUND: The immune dysregulation underlying inflammatory bowel disease (IBD) can start years before the diagnosis, but the role of triggering factors and environmental exposures during this period is still uncertain. METHODS: This single-center case-control study included asymptomatic subjects with an incidental diagnosis of IBD during the colorectal cancer screening program. Twenty-two minerals and 17 metals were determined at diagnosis in hair samples and compared 1:2 to healthy controls...
January 2024: Crohn's & colitis 360
https://read.qxmd.com/read/38544286/de-la-epidemiolog%C3%A3-a-de-la-actividad-f%C3%A3-sica-a-la-epidemiolog%C3%A3-a-cr%C3%A3-tica-de-las-pr%C3%A3-cticas-corporales-una-propuesta-desde-latinoam%C3%A3-rica
#40
JOURNAL ARTICLE
Heitor Martins Pasquim, Rodrigo Soto Lagos, Phillipe Augusto Ferreira Rodrigues, Priscilla de Cesaro Antunes
This essay aims to analyze the epidemiology of physical activity as a practical and epistemological field in dispute, based on the theoretical framework of international critical epidemiology. From this scientific point of view, the epidemiology of physical activity is radically marked by epistemological-health colonialism. This brand is expressed in the theoretical-practical distance from critical epidemiological thinking formulated in the global south, producing an artificial regional dependency and deep frustration in those who want to generate transformations in contemporary ways of living...
March 27, 2024: Global Health Promotion
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