keyword
Keywords Sdha OR SDHB OR SDHC OR SDHC O...

Sdha OR SDHB OR SDHC OR SDHC OR SDHAF2 OR FH

https://read.qxmd.com/read/38513872/citric-acid-induced-photochemical-behavior-of-cr-iii-substituted-ferrihydrite-fe-and-cr-release-mineral-transformation-and-reactive-oxygen-species-generation
#21
JOURNAL ARTICLE
Fan Li, Mengke Li, Yun Liu, Feng Li, Jiang Tian
Cr(III)-substituted ferrihydrite (Fh-Cr(III)) is widespread in the surrounding environment of mining areas. Fh-Cr(III) is unstable and susceptible to the influence of environmental factors, such as dissolved organic matter (DOM) and light, so Cr species embedded in mineral crystal layers are likely to have more profound negative effects on the environment with the photochemical behaviors of minerals. However, the photochemical behaviors of Fh-Cr(III) in the presence of DOM remains poorly understood. For this reason, citric acid (CA) was chosen as the representative DOM to study its combined effects with visible light irradiation on Fh-Cr(III) dissolution and phase transition...
March 19, 2024: Science of the Total Environment
https://read.qxmd.com/read/38513437/circulating-mir-6821-5p-levels-and-coronary-calcification-in-asymptomatic-familial-hypercholesterolemia-patients
#22
JOURNAL ARTICLE
Rafael Escate, Teresa Padró, Leopoldo Pérez de Isla, Francisco Fuentes, Rodrigo Alonso, Pedro Mata, Lina Badimon
BACKGROUND AND AIMS: Premature atherosclerotic cardiovascular disease (CVD) is a clinic characteristic of familial hypercholesterolemia (FH). Coronary calcium score (CCS) is a highly used imaging modality to evidence atherosclerotic plaque burden. microRNAs (miRNAs) are non-coding RNAs that epigenetically regulate gene expression. Here, we investigated whether CCS associates with a specific miRNA-signature in FH-patients. METHODS: Patients with genetic diagnosis of FH (N = 86) from the nationwide SAFEHEART-cohort were investigated by computed tomography angiography imaging and classified depending on the presence of coronary calcification in FH-CCS (+) and FH-CCS (-) groups by the Agatston score...
March 8, 2024: Atherosclerosis
https://read.qxmd.com/read/38513336/high-prevalence-of-familial-hypercholesterolemia-due-to-the-founder-effect-of-the-ldlr-c-2271del-variant-in-communities-of-oaxaca-mexico
#23
JOURNAL ARTICLE
Perla Graciela Rodríguez-Gutiérrez, Teresita de Jesús Hernández-Flores, Paola Montserrat Zepeda-Olmos, Christian Daniel Reyes-Rodríguez, Kiabeth Robles-Espinoza, Ulises Solís-Gómez, Juan Ramón González-García, María Teresa Magaña-Torres
INTRODUCTION: In Mexico, familial hypercholesterolemia (FH) is underdiagnosed, but population screening in small communities where at least one homozygous patient has already been detected results in a useful and inexpensive approach to reduce this problem. Considering that we previously reported nine homozygous cases from the state of Oaxaca, we decided to perform a population screening to identify patients with FH and to describe both their biochemical and genetic characteristics. METHODS: LDL cholesterol (LDLc) was quantified in 2,093 individuals from 11 communities in Oaxaca; either adults with LDLc levels ≥170 mg/dL or children with LDLc ≥130 mg/dL were classified as suggestive of FH and therefore included in the genetic study...
March 20, 2024: Archives of Medical Research
https://read.qxmd.com/read/38512114/memory-active-t-cell-activation-is-associated-with-immunotherapeutic-response-in-fumarate-hydratase-deficient-renal-cell-carcinoma
#24
JOURNAL ARTICLE
Junru Chen, Xu Hu, Junjie Zhao, Xiaoxue Yin, Linmao Zheng, Jingjing Guo, Jianhui Chen, Yongquan Wang, Xinan Sheng, Haiying Dong, Xiaodong Liu, Xingming Zhang, Jiayu Liang, Haolin Liu, Jin Yao, Jiyan Liu, Yali Shen, Zhibin Chen, Zhengyu He, Yaodong Wang, Ni Chen, Ling Nie, Mengni Zhang, Xiuyi Pan, Yuntian Chen, Haoyang Liu, Yaowen Zhang, Yanfeng Tang, Sha Zhu, Jinge Zhao, Jindong Dai, Zilin Wang, Yuhao Zeng, Zhipeng Wang, Haojie Huang, Zhenhua Liu, Pengfei Shen, Hao Zeng, Guangxi Sun
PURPOSE: Fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) is a rare and lethal subtype of kidney cancer. However, the optimal treatments and molecular correlates of benefits for FH-deficient RCC are currently lacking. EXPERIMENTAL DESIGN: A total of 91 patients with FH-deficient RCC from 15 medical centers between 2009 and 2022 were enrolled in this study. Genomic and bulk RNA sequencing (RNA-seq) were performed on 88 and 45 untreated FH-deficient RCCs, respectively...
March 21, 2024: Clinical Cancer Research
https://read.qxmd.com/read/38510967/factor-h-related-protein-1-promotes-complement-mediated-opsonization-of-pseudomonas-aeruginosa
#25
JOURNAL ARTICLE
Alex González-Alsina, Héctor Martín-Merinero, Margalida Mateu-Borrás, María Verd, Antonio Doménech-Sánchez, Joanna B Goldberg, Santiago Rodríguez de Córdoba, Sebastián Albertí
Pseudomonas aeruginosa is an important human opportunistic pathogen responsible for a wide range of infections. The complement system is the main early host defense mechanism to control these infections. P. aeruginosa counteracts complement attack by binding Factor H (FH), a complement regulator that inactivates C3b, preventing the formation of the C3-convertase and complement amplification on the bacterial surface. Factor H-related proteins (FHRs) are a group of plasma proteins evolutionarily related to FH that have been postulated to interfere in this bacterial mechanism of resisting complement...
2024: Frontiers in Cellular and Infection Microbiology
https://read.qxmd.com/read/38509470/differential-cognitive-and-behavioral-development-from-6-to-24%C3%A2-months-in-autism-and-fragile-x-syndrome
#26
JOURNAL ARTICLE
Lindsay J Mullin, Joshua Rutsohn, Julia L Gross, Kelly E Caravella, Rebecca L Grzadzinski, Leigh Anne Weisenfeld, Lisa Flake, Kelly N Botteron, Stephen R Dager, Annette M Estes, Juhi Pandey, Robert T Schultz, Tanya St John, Jason J Wolff, Mark D Shen, Joseph Piven, Heather C Hazlett, Jessica B Girault
BACKGROUND: Specifying early developmental differences among neurodevelopmental disorders with distinct etiologies is critical to improving early identification and tailored intervention during the first years of life. Recent studies have uncovered important differences between infants with fragile X syndrome (FXS) and infants with familial history of autism spectrum disorder who go on to develop autism themselves (FH-ASD), including differences in brain development and behavior. Thus far, there have been no studies longitudinally investigating differential developmental skill profiles in FXS and FH-ASD infants...
March 20, 2024: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/38506754/goethite-and-hematite-nucleation-and-growth-from-ferrihydrite-effects-of-oxyanion-surface-complexes
#27
JOURNAL ARTICLE
Alireza Namayandeh, Wei Zhang, Steven K Watson, Olaf J Borkiewicz, Nefeli M Bompoti, Maria Chrysochoou, R Lee Penn, F Marc Michel
The presence of oxyanions, such as nitrate (NO3 - ) and phosphate (PO4 3- ), regulates the nucleation and growth of goethite (Gt) and hematite (Hm) during the transformation of ferrihydrite (Fh). Our previous studies showed that oxyanion surface complexes control the rate and pathway of Fh transformation to Gt and Hm. However, how oxyanion surface complexes control the mechanism of Gt and Hm nucleation and growth during the Fh transformation is still unclear. We used synchrotron scattering methods and cryogenic transmission electron microscopy to investigate the effects of NO3 - outer-sphere complexes and PO4 3- inner-sphere complexes on the mechanism of Gt and Hm formation from Fh...
March 20, 2024: Environmental Science & Technology
https://read.qxmd.com/read/38506081/reproductive-carrier-screening-identifying-families-at-risk-for-familial-hypercholesterolemia-in-the-united-states
#28
JOURNAL ARTICLE
Vivienne Souter, Emily Becraft, Samantha Brummit, Bryan Gall, Brittany Prigmore, Yang Wang, Peter Benn
BACKGROUND: Familial hypercholesterolemia is a treatable genetic condition but remains underdiagnosed. We reviewed the frequency of pathogenic or likely pathogenic (P/LP) variants in the LDLR gene in female individuals receiving reproductive carrier screening. METHODS: This retrospective observational study included samples from female patients (aged 18-55 years) receiving a 274-gene carrier screening panel from January 2020 to September 2022. LDLR exons and their 10 base pairs flanking regions were sequenced...
March 20, 2024: Circulation. Genomic and Precision Medicine
https://read.qxmd.com/read/38505954/additive-effects-of-a-family-history-of-schizophrenia-spectrum-disorders-and-an-environmental-risk-score-for-the-outcome-of-patients-with-non-affective-first-episode-psychosis
#29
JOURNAL ARTICLE
Manuel J Cuesta, Elena García de Jalón, Ana M Sánchez-Torres, Gustavo J Gil-Berrozpe, Lidia Aranguren, Gerardo Gutierrez, Asier Corrales, Amalia Zarzuela, Berta Ibañez, Víctor Peralta
BACKGROUND: First-episode psychotic disorders comprise a heterogeneous phenotype with a complex etiology involving numerous common small-effect genetic variations and a wide range of environmental exposures. We examined whether a family of schizophrenia spectrum disorder (FH-Sz) interacts with an environmental risk score (ERS-Sz) regarding the outcome of patients with non-affective first episode psychosis (NAFEP). METHODS: We included 288 patients with NAFEP who were evaluated after discharge from an intensive 2-year program...
March 20, 2024: Psychological Medicine
https://read.qxmd.com/read/38499912/evaluation-of-food-homogenates-on-cell-survival-in-vitro
#30
JOURNAL ARTICLE
Dima Semaan, Liam O'Connor, Linda Scobie
A critical review on the approaches to assess the infectivity of the Hepatitis E virus (HEV) in food recommended that a cell culture-based method should be developed. Due to the observations that viral loads in food may be low, it is important to maximise the potential for detection of HEV in a food source in order to fully assess infectivity. To do so, would require minimal processing of any target material. In order to proceed with the development of an infectivity culture method that is simple, robust and reproducible, there are a number of points to address; one being to assess if food homogenates are cytotoxic to HEV susceptible target cells...
March 18, 2024: Food and Environmental Virology
https://read.qxmd.com/read/38499608/effect-of-clinical-decision-support-for-severe-hypercholesterolemia-on-low-density-lipoprotein-cholesterol-levels
#31
JOURNAL ARTICLE
Hana Bangash, Seyedmohammad Saadatagah, Mohammadreza Naderian, Marwan E Hamed, Lubna Alhalabi, Alborz Sherafati, Joseph Sutton, Omar Elsekaily, Ali Mir, Justin H Gundelach, Daniel Gibbons, Paul Johnsen, Christina M Wood-Wentz, Carin Y Smith, Pedro J Caraballo, Kent R Bailey, Iftikhar J Kullo
Severe hypercholesterolemia/possible familial hypercholesterolemia (FH) is relatively common but underdiagnosed and undertreated. We investigated whether implementing clinical decision support (CDS) was associated with lower low-density lipoprotein cholesterol (LDL-C) in patients with severe hypercholesterolemia/possible FH (LDL-C ≥ 190 mg/dL). As part of a pre-post implementation study, a CDS alert was deployed in the electronic health record (EHR) in a large health system comprising 3 main sites, 16 hospitals and 53 clinics...
March 18, 2024: NPJ Digital Medicine
https://read.qxmd.com/read/38497933/bullet-holes-a-novel-model-to-identify-the-most-impactful-gaps-in-the-firearm-homicide-prevention-laws-of-each-state
#32
JOURNAL ARTICLE
Aksel D Laudon, Elizabeth S Davis, Xuewei Zhao, Kelly Kenzik, Crisanto Torres, Sabrina E Sanchez, Tejal S Brahmbhatt, Dane R Scantling
BACKGROUND: Firearm homicides (FH) are a major cause of mortality in the United States (US). Firearm law implementation is variable across states, and legislative gaps may represent opportunities for FH prevention. For each state, we sought to identify which firearm law category would have been most effective if implemented and how effective it would have been. METHODS: We conducted a retrospective cohort study examining the effects of firearm laws on FH rates in the 48 contiguous US states 2010-2019...
March 18, 2024: Journal of Trauma and Acute Care Surgery
https://read.qxmd.com/read/38497292/glutathione-triggered-release-of-so-2-gas-to-augment-oxidative-stress-for-enhanced-chemodynamic-and-sonodynamic-therapy
#33
JOURNAL ARTICLE
Ya Tian, Pei Li, Likai Wang, Xueli Ye, Zhonghuan Qu, Juan Mou, Shiping Yang, Huixia Wu
Recently, gas therapy has emerged as a promising alternative treatment for deep-seated tumors. However, some challenges regarding insufficient or uncontrolled gas generation as well as unclear therapeutic mechanisms restrict its further clinical application. Herein, a well-designed nanoreactor based on intracellular glutathione (GSH)-triggered generation of sulfur dioxide (SO2 ) gas to augment oxidative stress has been developed for synergistic chemodynamic therapy (CDT)/sonodynamic therapy (SDT)/SO2 gas therapy...
March 18, 2024: Biomaterials Science
https://read.qxmd.com/read/38496821/integrative-analysis-of-germline-rare-variants-in-clear-and-non-clear-cell-renal-cell-carcinoma
#34
JOURNAL ARTICLE
Seung Hun Han, Sabrina Y Camp, Hoyin Chu, Ryan Collins, Riaz Gillani, Jihye Park, Ziad Bakouny, Cora A Ricker, Brendan Reardon, Nicholas Moore, Eric Kofman, Chris Labaki, David Braun, Toni K Choueiri, Saud H AlDubayan, Eliezer M Van Allen
BACKGROUND AND OBJECTIVE: Previous germline studies on renal cell carcinoma (RCC) have usually pooled clear and non-clear cell RCCs and have not adequately accounted for population stratification, which might have led to an inaccurate estimation of genetic risk. Here, we aim to analyze the major germline drivers of RCC risk and clinically relevant but underexplored germline variant types. METHODS: We first characterized germline pathogenic variants (PVs), cryptic splice variants, and copy number variants (CNVs) in 1436 unselected RCC patients...
April 2024: European urology open science
https://read.qxmd.com/read/38495792/differences-in-the-clinical-and-hormonal-presentation-of-patients-with-familial-and-sporadic-primary-aldosteronism
#35
REVIEW
Marta Araujo-Castro, Paola Parra, Patricia Martín Rojas-Marcos, Miguel Paja Fano, Marga González Boillos, Eider Pascual-Corrales, Ana María García Cano, Jorge Gabriel Ruiz-Sanchez, Almudena Vicente Delgado, Emilia Gómez Hoyos, Rui Ferreira, Iñigo García Sanz, Mònica Recasens Sala, Rebeca Barahona San Millan, María José Picón César, Patricia Díaz Guardiola, Carolina M Perdomo, Laura Manjón-Miguélez, Rogelio García Centeno, Ángel Rebollo Román, Paola Gracia Gimeno, Cristina Robles Lázaro, Manuel Morales-Ruiz, María Calatayud, Simone Andree Furio Collao, Diego Meneses, Miguel Sampedro Nuñez, Verónica Escudero Quesada, Elena Mena Ribas, Alicia Sanmartín Sánchez, Cesar Gonzalvo Diaz, Cristina Lamas, María Del Castillo Tous, Joaquín Serrano Gotarredona, Theodora Michalopoulou Alevras, Eva María Moya Mateo, Felicia A Hanzu
PURPOSE: To compare the clinical and hormonal characteristics of patients with familial hyperaldosteronism (FH) and sporadic primary aldosteronism (PA). METHODS: A systematic review of the literature was performed for the identification of FH patients. The SPAIN-ALDO registry cohort of patients with no suspicion of FH was chosen as the comparator group (sporadic group). RESULTS: A total of 360 FH (246 FH type I, 73 type II, 29 type III, and 12 type IV) cases and 830 sporadic PA patients were included...
2024: Frontiers in Endocrinology
https://read.qxmd.com/read/38488343/testosterone-therapy-in-men-with-classical-versus-functional-hypogonadism-results-from-a-controlled-9-years-real-world-registry-study
#36
JOURNAL ARTICLE
Michael Zitzmann, Jann-Frederik Cremers, Claudia Krallmann, Armin Soave, Sabine Kliesch
BACKGROUND AND OBJECTIVE: The longitudinal efficacy and clinical utility of Testosterone Therapy (TTh) in ameliorating functional hypogonadism (FH) remain contentious, with long-term data being scarce. To address this lacuna, a comprehensive long-term registry study, stratifying patients across a spectrum of hypogonadal etiologies, offers a robust investigative paradigm. MATERIALS AND METHODS: This 9-year registry, encompassing 650 patients (equivalent to 4,362 cumulative years of treatment), included 188 patients diagnosed with FH (mean age 42...
March 15, 2024: Andrology
https://read.qxmd.com/read/38487640/failure-of-lipid-control-by-pcsk9-inhibitors-in-compound-heterozygous-familial-hypercholesterolemia-complicated-with-premature-myocardial-infarction-a-case-report
#37
Ziyue Zhang, Rongpei Yang, Jun Zhu, XiaoLi Yang, Hao Luo, Hongyong Wang, Xiaoli Luo
KEY CLINICAL MESSAGE: A certain level of low-density lipoprotein receptor activity is crucial for the efficacy of PCSK9i. Therapeutic strategies for familial hypercholesterolemia patients should consider drug efficacy, and genetic testing will be helpful. ABSTRACT: Familial hypercholesterolemia (FH) is a serious autosomal dominant disorder. Managing blood lipids in FH patients poses greater challenges for clinicians. Drug therapy may not always yield satisfactory results, particularly in individuals with low-density lipoprotein receptor (LDLR) negative mutations...
March 2024: Clinical Case Reports
https://read.qxmd.com/read/38487624/humoral-complementomics-exploration-of-noninvasive-complement-biomarkers-as-predictors-of-renal-cancer-progression
#38
JOURNAL ARTICLE
Margot Revel, Mikel Rezola Artero, Houcine Hamidi, Anne Grunenwald, Loris Blasco, Yann A Vano, Stephane Marie Oudard, Rafael Sanchez-Salas, Petr Macek, Lara Rodriguez Sanchez, Xavier Cathelineau, Benoit Vedié, Catherine Sautes-Fridman, Wolf Herman Fridman, Lubka T Roumenina, Marie-Agnes Dragon-Durey
Despite the progress of anti-cancer treatment, the prognosis of many patients with solid tumors is still dismal. Reliable noninvasive biomarkers are needed to predict patient survival and therapy response. Here, we propose a Humoral Complementomics approach: a work-up of assays to comprehensively evaluate complement proteins, activation fragments, and autoantibodies targeting complement proteins in plasma, which we correlated with the intratumoral complement activation, and/or local production, focusing on localized and metastatic clear cell renal cell carcinoma (ccRCC)...
2024: Oncoimmunology
https://read.qxmd.com/read/38487528/a-phase-i-trial-of-son-1010-a-tumor-targeted-interleukin-12-linked-albumin-binding-cytokine-shows-favorable-pharmacokinetics-pharmacodynamics-and-safety-in-healthy-volunteers
#39
JOURNAL ARTICLE
Richard T Kenney, John K Cini, Susan Dexter, Manuel DaFonseca, Justus Bingham, Isabelle Kuan, Sant P Chawla, Thomas M Polasek, Jason Lickliter, Philip J Ryan
BACKGROUND: The benefits of recombinant interleukin-12 (rIL-12) as a multifunctional cytokine and potential immunotherapy for cancer have been sought for decades based on its efficacy in multiple mouse models. Unexpected toxicity in the first phase 2 study required careful attention to revised dosing strategies. Despite some signs of efficacy since then, most rIL-12 clinical trials have encountered hurdles such as short terminal elimination half-life (T½ ), limited tumor microenvironment targeting, and substantial systemic toxicity...
2024: Frontiers in Immunology
https://read.qxmd.com/read/38483955/photosensitive-hydrogel-with-temperature-controlled-reversible-nano-apertures-for-single-cell-protein-analysis
#40
JOURNAL ARTICLE
Haiyang Xie, Wenke Guo, Hui Jiang, Ting Zhang, Lei Zhao, Jinjuan Hu, Shuxin Gao, Sunfengda Song, Jiasu Xu, Li Xu, Xinyi Sun, Yi Ding, Lai Jiang, Xianting Ding
Single cell western blot (scWB) is one of the most important methods for cellular heterogeneity profiling. However, current scWB based on conventional photoactive polyacrylamide hydrogel material suffers from the tradeoff between in-gel probing and separation resolution. Here, a highly sensitive temperature-controlled single-cell western blotting (tc-scWB) method is introduced, which is based on a thermo/photo-dualistic-sensitive polyacrylamide hydrogel, namely acrylic acid-functionalized graphene oxide (AFGO) assisted, N-isopropylacrylamide modified polyacrylamide (ANP) hydrogel...
March 14, 2024: Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
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