keyword
https://read.qxmd.com/read/38537065/a-multicenter-study-of-venetoclax-based-treatment-for-patients-with-richter-transformation-of-chronic-lymphocytic-leukemia
#1
JOURNAL ARTICLE
Paul Joseph Hampel, Mahesh Swaminathan, Kerry A Rogers, Erin M Parry, Jan A Burger, Matthew S Davids, Wei Ding, Alessandra Ferrajoli, Jonathan Mitry Hyak, Nitin Jain, Saad S Kenderian, Yucai Wang, William G Wierda, Jennifer A Woyach, Sameer A Parikh, Philip A Thompson
Patients with chronic lymphocytic leukemia (CLL) who develop Richter transformation (RT) have a poor prognosis when treated with chemoimmunotherapy regimens used for de novo diffuse large B-cell lymphoma. Venetoclax, a BCL2 inhibitor, has single agent efficacy in patients with RT and is potentially synergistic with chemoimmunotherapy. In this multicenter, retrospective study, we evaluated 62 patients with RT who received venetoclax-based treatment outside of a clinical trial, in combination with a Bruton tyrosine kinase inhibitor (BTKi; n=28), R-CHOP (n=13), or intensive chemoimmunotherapy other than R-CHOP (n=21)...
March 27, 2024: Blood Advances
https://read.qxmd.com/read/38536952/familial-recurrence-of-incontinentia-pigmenti-due-to-de-novo-pathogenic-variants-in-the-ikbkg-gene
#2
Julie Steffann, Judite De Oliveira Santos, Anne-Laure Zelbin, Smail Hadj-Rabia, Fabienne Charbit-Henrion, Florence Petit
Incontinentia pigmenti (IP, Bloch-Sulzberger syndrome) is a multisystem disorder which associates specific skin lesions that evolves in four stages, and occasionally, central nervous system, eye, hair, and teeth involvement. Familial (35%) and sporadic (65%) cases are caused by pathogenic variants in the IKBKG gene. Here we report an unusual family, where, in two half-sisters affected by typical IP, molecular genetic analysis identified a likely pathogenic non-sense variant in the IKBKG gene of one of the sisters, the other being not a carrier...
March 27, 2024: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/38536950/trends-in-the-potential-of-stilbenes-to-improve-plant-stress-tolerance-insights-of-plant-defense-mechanisms-in-response-to-biotic-and-abiotic-stressors
#3
REVIEW
Qingchao Gao, Renyu Zheng, Jun Lu, Xue Li, Di Wang, Xinyu Cai, Xueyan Ren, Qingjun Kong
Stilbenes belong to the naturally synthesized plant phytoalexins, produced de novo in response to various biotic and abiotic stressors. The importance of stilbenes in plant resistance to stress and disease is of increasing interest. However, the defense mechanisms and potential of stilbenes to improve plant stress tolerance have not been thoroughly reviewed. This work overviewed the pentose phosphate pathway, glycolysis pathway, shikimate pathway, and phenylalanine pathway occurred in the synthesis of stilbenes when plants are subjected to biotic and abiotic stresses...
March 27, 2024: Journal of Agricultural and Food Chemistry
https://read.qxmd.com/read/38536200/incidence-risk-factors-and-outcome-of-asymptomatic-central-nervous-system-involvement-in-adult-patients-with-acute-myeloid-leukemia
#4
JOURNAL ARTICLE
Marijana Virijevic, Nada Kraguljac-Kurtovic, Mirjana Mitrovic, Ljubomir Jakovic, Zoran Bukumuric, Nikola Pantic, Nikica Sabljic, Zlatko Pravdic, Mirjana Cvetkovic, Vesna Knezevic, Tijana Dragovic-Ivancevic, Irena Djunić, Jovan Rajic, Violeta Milosevic, Milena Todorovic-Balint, Ana Vidovic, Nada Suvajdzic-Vukovic
Examination of central nervous system (CNS) involvement is not routine diagnostic practice in adult patients with acute myeloid leukemia (AML). Therefore, many asymptomatic patients with CNS involvement might go undetected. The effect of CNS involvement on the AML disease course is not well defined, with conflicting results regarding clinical outcome. This study aimed to determine the incidence of asymptomatic CNS involvement in AML estimated by multiparametric flow cytometry of cerebrospinal fluid (MFC-CSF) at diagnosis, the related potential risk factors, and prognosis...
March 2024: Hematological Oncology
https://read.qxmd.com/read/38535950/mechanism-of-the-synergistic-toxicity-of-ampicillin-and-cefazoline-on-selenastrum-capricornutum
#5
JOURNAL ARTICLE
Feng-Ling Huang, Li-Tang Qin, Ling-Yun Mo, Hong-Hu Zeng, Yan-Peng Liang
Ampicillin (AMP) and cefazolin (CZO) are commonly used β-lactam antibiotics which are extensively globally produced. Additionally, AMP and CZO are known to have relatively high ecotoxicity. Notably, the mix of AMP and CZO creates a synergistic effect that is more harmful to the environment, and how exposure to AMP-CZO can induce synergism in algae remains virtually unknown. To yield comprehensive mechanistic insights into chemical toxicity, including dose-response relationships and variations in species sensitivity, the integration of multiple endpoints with de novo transcriptomics analyses were used in this study...
March 14, 2024: Toxics
https://read.qxmd.com/read/38535821/unveiling-the-diversity-and-modifications-of-short-peptides-in-buthus-martensii-scorpion-venom-through-liquid-chromatography-high-resolution-mass-spectrometry
#6
JOURNAL ARTICLE
Ling Zeng, Cangman Zhang, Mingrong Yang, Jianfeng Sun, Jingguang Lu, Huixia Zhang, Jianfeng Qin, Wei Zhang, Zhihong Jiang
More recently, short peptides in scorpion venom have received much attention because of their potential for drug discovery. Although various biological effects of these short peptides have been found, their studies have been hindered by the lack of structural information especially in modifications. In this study, small peptides from scorpion venom were investigated using high-performance liquid chromatography high-resolution mass spectrometry followed by de novo sequencing. A total of 156 sequences consisting of 2~12 amino acids were temporarily identified from Buthus martensii scorpion venom...
March 16, 2024: Toxins
https://read.qxmd.com/read/38535626/nonnegligible-contribution-of-non-lymphoid-tissue-to-viral-reservoir-during-the-short-term-early-cart-in-sivmac239-infected-chinese-rhesus-macaques
#7
JOURNAL ARTICLE
Tian Renrong, Ting Li, Ming-Xu Zhang, Tian-Zhang Song, Hong-Yi Zheng, Yong-Tang Zheng
HIV/AIDS cannot be cured because of the persistence of the viral reservoir. Due to the complexity of the cellular composition and structure of the human organs, HIV reservoirs of anatomical site is also complex. Recently, although a variety of molecules have been reported to involved in the establishment and maintenance of the viral reservoirs, or as marker of latent cells, the research mainly focuses on blood and lymph nodes. Now, the characteristics of the viral reservoir in tissue are not yet fully understood...
March 27, 2024: AIDS Research and Human Retroviruses
https://read.qxmd.com/read/38535185/systematic-engineering-of-saccharomyces-cerevisiae-for-the-de-novo-biosynthesis-of-genistein-and-glycosylation-derivatives
#8
JOURNAL ARTICLE
Yongtong Wang, Zhiqiang Xiao, Siqi Zhang, Xinjia Tan, Yifei Zhao, Juan Liu, Ning Jiang, Yang Shan
Isoflavones are predominantly found in legumes and play roles in plant defense and prevention of estrogen-related diseases. Genistein is an important isoflavone backbone with various biological activities. In this paper, we describe how a cell factory that can de novo synthesize genistein was constructed in Saccharomyces cerevisiae . Different combinations of isoflavone synthase, cytochrome P450 reductase, and 2-hydroxyisoflavone dehydratase were tested, followed by pathway multicopy integration, to stably de novo synthesize genistein...
February 26, 2024: Journal of Fungi (Basel, Switzerland)
https://read.qxmd.com/read/38535156/survival-analysis-of-male-patients-with-brain-metastases-at-initial-breast-cancer-diagnosis-over-the-last-decade
#9
JOURNAL ARTICLE
Jorge Avila, Julieta Leone, Carlos T Vallejo, José P Leone
Breast cancer in men represents approximately 1% of all breast cancer diagnoses. Among all patients with breast cancer, approximately 30% will develop brain metastases. Over the past decade, there have been multiple advances in the treatment of metastatic breast cancer; however, long-term outcomes of this presentation in male patients are lacking. We evaluated male patients with de novo stage IV breast cancer using the Surveillance, Epidemiology and End Results (SEER) database from 2010 to 2019. Overall survival (OS) was estimated using the Kaplan-Meier method and differences between groups were compared using log rank tests...
March 10, 2024: Medical Sciences: Open Access Journal
https://read.qxmd.com/read/38535065/primary-adenosquamous-carcinoma-of-the-prostate
#10
JOURNAL ARTICLE
Roksolana Demianets, Dong Ren, Roozbeh Houshyar, Giovanna A Giannico, Cary Johnson
Prostate cancer accounts for 29% of malignant diagnoses among men in the United States and is the second leading cause of death from cancer. Effective screening methods and improved treatment have decreased the mortality rate significantly. This decreased mortality rate, however, does not apply to all histologic variants. Adenosquamous carcinoma of the prostate is an extremely aggressive neoplasm with no current known curative therapy. It is often diagnosed after chemotherapy, radiation, or androgen deprivation therapy for traditional prostatic adenocarcinomas...
March 19, 2024: Diagnostics
https://read.qxmd.com/read/38534921/spatially-resolved-microglia-macrophages-in-recurrent-glioblastomas-overexpress-fatty-acid-metabolism-and-phagocytic-genes
#11
JOURNAL ARTICLE
Akshitkumar M Mistry, Jonah Daneshmand, SeonYeong Jamie Seo, Norman L Lehman, Donald M Miller, Dylan A Goodin, Hermann B Frieboes, Joseph Chen, Adrianna Masters, Brian J Williams, Kavitha Yaddanapudi
BACKGROUND: Glioblastoma (GBM) tumors are rich in tumor-associated microglia/macrophages. Changes associated with treatment in this specific cell population are poorly understood. Therefore, we studied changes in gene expression of tumor-associated microglia/macrophages (Iba1+) cells in de novo versus recurrent GBMs. METHODS: NanoString GeoMx® Digital Spatial Transcriptomic Profiling of microglia/macrophages (Iba1+) and glial cells (Gfap+) cells identified on tumor sections was performed on paired de novo and recurrent samples obtained from three IDH-wildtype GBM patients...
February 23, 2024: Current Oncology
https://read.qxmd.com/read/38534435/the-bad-father-paternal-role-in-biology-of-pregnancy-and-in-birth-outcome
#12
REVIEW
Stefano Raffaele Giannubilo, Daniela Marzioni, Giovanni Tossetta, Ramona Montironi, Maria Liberata Meccariello, Andrea Ciavattini
Pregnancy is generally studied as a biological interaction between a mother and a fetus; however, the father, with his characteristics, lifestyle, genetics, and living environment, is by no means unrelated to the outcome of pregnancy. The half of the fetal genetic heritage of paternal derivation can be decisive in cases of inherited chromosomal disorders, and can be the result of de novo genetic alterations. In addition to the strictly pathological aspects, paternal genetics may transmit thrombophilic traits that affect the implantation and vascular construction of the feto-placental unit, lead to placenta-mediated diseases such as pre-eclampsia and fetal growth retardation, and contribute to the multifactorial genesis of preterm delivery...
March 3, 2024: Biology
https://read.qxmd.com/read/38533792/facing-and-dealing-with-emotional-turbulence-living-with-newly-diagnosed-parkinson-s-disease
#13
JOURNAL ARTICLE
Catharina Sjödahl Hammarlund, Atika Khalaf, Albert Westergren, Petra Lilja Hagell, Peter Hagell
INTRODUCTION: The experiences of living with Parkinson's disease (PD) from the perspective of newly diagnosed persons with PD (PwPD) have not been previously described. AIM: This study aimed to gain a better understanding of the impact of living with the early stages of PD. METHODS: A qualitative interview study was conducted among nine persons, seven men and two women, from southern Sweden. Participants had a median age of 71 (min-max, 64-77) years and had been diagnosed with PD for a median of 5 (min-max, 2-12) months...
March 27, 2024: Scandinavian Journal of Caring Sciences
https://read.qxmd.com/read/38533182/de-novo-design-of-spiro-type-hole-transporting-material-anisotropic-regulation-toward-efficient-and-stable-perovskite-solar-cells
#14
JOURNAL ARTICLE
Xuran Wang, Mingliang Wang, Zilong Zhang, Dong Wei, Shidong Cai, Yuheng Li, Rui Zhang, Liangliang Zhang, Ruidan Zhang, Chenhui Zhu, Xiaozhen Huang, Feng Gao, Peng Gao, Yang Wang, Wei Huang
2,2',7,7'-Tetrakis( N , N -di-p-methoxyphenyl)-amine-9,9'-spirobifluorene (Spiro-OMeTAD) represents the state-of-the-art hole-transporting material (HTM) in n-i-p perovskite solar cells (PSCs). However, its susceptibility to stability issues has been a long-standing concern. In this study, we embark on a comprehensive exploration of the untapped potential within the family of spiro-type HTMs using an innovative anisotropic regulation strategy. Diverging from conventional approaches that can only modify spirobifluorene with single functional group, this approach allows us to independently tailor the two orthogonal components of the spiro-skeleton at the molecular level...
2024: Research: a science partner journal
https://read.qxmd.com/read/38533117/the-first-complete-mitochondrial-genome-data-of-the-afghan-pika-ochotona-rufescens-lagomorpha-ochotonidae-near-the-type-locality
#15
JOURNAL ARTICLE
Anwesha Saha, Mateusz Baca, Danijela Popović, Zeinolabedin Mohammadi, Urban Olsson, Emily Roycroft, Łucja Fostowicz-Frelik
The Afghan pika Ochotona rufescens (Gray, 1842) is widely distributed across the mountains of Afghanistan, Iran, Pakistan, and southwestern Turkmenistan, most often at elevations between 2,000 and 3,000 m. Here we present, for the first time, the complete mitochondrial genomes of two specimens of the nominotypical subspecies Ochotona rufescens rufescens , de novo assembled from Illumina short reads of fragmented probe-enriched DNA. The lengths of the circular mitogenomes are 16,408 bp and 16,407 bp, respectively...
April 2024: Data in Brief
https://read.qxmd.com/read/38532610/design-of-efficient-artificial-enzymes-using-crystallographically-enhanced-conformational-sampling
#16
JOURNAL ARTICLE
Rojo V Rakotoharisoa, Behnoush Seifinoferest, Niayesh Zarifi, Jack D M Miller, Joshua M Rodriguez, Michael C Thompson, Roberto A Chica
The ability to create efficient artificial enzymes for any chemical reaction is of great interest. Here, we describe a computational design method for increasing the catalytic efficiency of de novo enzymes by several orders of magnitude without relying on directed evolution and high-throughput screening. Using structural ensembles generated from dynamics-based refinement against X-ray diffraction data collected from crystals of Kemp eliminases HG3 ( k cat / K M 125 M-1 s-1 ) and KE70 ( k cat / K M 57 M-1 s-1 ), we design from each enzyme ≤10 sequences predicted to catalyze this reaction more efficiently...
March 26, 2024: Journal of the American Chemical Society
https://read.qxmd.com/read/38531627/variant-characterisation-and-clinical-profile-in-a-large-cohort-of-patients-with-ellis-van-creveld-syndrome-and-a-family-with-weyers-acrofacial-dysostosis
#17
JOURNAL ARTICLE
Umut Altunoglu, Adrian Palencia-Campos, Nilay Güneş, Gozde Tutku Turgut, Julian Nevado, Pablo Lapunzina, Maria Valencia, Asier Iturrate, Ghada Otaify, Rasha Elhossini, Adel Ashour, Asmaa K Amin, Rania F Elnahas, Elisa Fernandez-Nuñez, Carmen-Lisset Flores, Pedro Arias, Jair Tenorio, Carlos Israel Chamorro Fernández, Yeliz Güven, Elif Özsu, Beray Selver Eklioğlu, Marisol Ibarra-Ramirez, Birgitte Rode Diness, Birute Burnyte, Houda Ajmi, Zafer Yüksel, Ruken Yıldırım, Edip Ünal, Ebtesam Abdalla, Mona Aglan, Hulya Kayserili, Beyhan Tuysuz, Victor Ruiz-Pérez
BACKGROUND: Ellis-van Creveld syndrome (EvC) is a recessive disorder characterised by acromesomelic limb shortening, postaxial polydactyly, nail-teeth dysplasia and congenital cardiac defects, primarily caused by pathogenic variants in EVC or EVC2 . Weyers acrofacial dysostosis (WAD) is an ultra-rare dominant condition allelic to EvC. The present work aimed to enhance current knowledge on the clinical manifestations of EvC and WAD and broaden their mutational spectrum. METHODS: We conducted molecular studies in 46 individuals from 43 unrelated families with a preliminary clinical diagnosis of EvC and 3 affected individuals from a family with WAD and retrospectively analysed clinical data...
March 26, 2024: Journal of Medical Genetics
https://read.qxmd.com/read/38531365/de-novo-missense-variants-in-exon-9-of-sephs1-cause-a-neurodevelopmental-condition-with-developmental-delay-poor-growth-hypotonia-and-dysmorphic-features
#18
JOURNAL ARTICLE
Sureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, Ethan Pavlovsky, Nicholas Tilton, Austin Sekula, Hua Gao, Joseph T Alaimo, Kendra Engleman, Eric T Rush, Karli Blocker, Katrina M Dipple, Veronica M Fettig, Heather Hare, Ian Glass, Dorothy K Grange, Michael Griffin, Chanika Phornphutkul, Lauren Massingham, Lakshmi Mehta, Danny E Miller, Jenny Thies, J Lawrence Merritt, Eric Muller, Matthew Osmond, Sarah L Sawyer, Rachel Slaugh, Rachel E Hickey, Barry Wolf, Sanjeev Choudhary, Miljan Simonović, Yueqing Zhang, Timothy Blake Palculict, Aida Telegrafi, Deanna Alexis Carere, Ingrid M Wentzensen, Michelle M Morrow, Kristin G Monaghan, Jun Yang, Jane Juusola
Selenophosphate synthetase (SEPHS) plays an essential role in selenium metabolism. Two mammalian SEPHS paralogues, SEPHS1 and SEPHS2, share high sequence identity and structural homology with SEPHS. Here, we report nine individuals from eight families with developmental delay, growth and feeding problems, hypotonia, and dysmorphic features, all with heterozygous missense variants in SEPHS1. Eight of these individuals had a recurrent variant at amino acid position 371 of SEPHS1 (p.Arg371Trp, p.Arg371Gln, and p...
March 21, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38531265/a-recurrent-ntrk1-tyrosine-kinase-domain-mutation-pair-is-characteristic-in-a-subset-of-dedifferentiated-liposarcomas
#19
JOURNAL ARTICLE
Zoltán Lippai, Bálint Péterfia, Gergő Papp, Katalin Dezső, Gábor Bedics, Zsuzsanna Pápai, Meindert H Lamers, Rosan Cm Kuin, Károly Szuhai, Zoltán Sápi
INTRODUCTION: Dedifferentiated liposarcoma (DDLPS) is a common form of liposarcoma with challenging treatment modalities. Pan-TRK immunopositivity can be often observed without NTRK gene fusion in soft tissue sarcomas with myogenic differentiation. Expression and the role of NTRK in DDLPS are under-studied. We sought to identify activating mutations of the NTRK genes. MATERIALS AND METHODS: 131 DDLPS patients were selected for pan-TRK immunohistochemistry and positive cases were analyzed by Sanger sequencing for NTRK1, NTRK2 and NTRK3 genes...
March 14, 2024: European Journal of Cancer
https://read.qxmd.com/read/38530954/differences-in-plasma-fatty-acid-composition-related-to-chronic-pancreatitis-a-pilot-study
#20
JOURNAL ARTICLE
Kristyn Gumpper-Fedus, Olivia Crowe, Phil A Hart, Valentina Pita-Grisanti, Ericka Velez-Bonet, Martha A Belury, Mitchell L Ramsey, Rachel M Cole, Niharika Badi, Stacey Culp, Alice Hinton, Luis F Lara, Somashekar G Krishna, Darwin L Conwell, Zobeida Cruz-Monserrate
OBJECTIVES: Chronic pancreatitis (CP) is an inflammatory disease affecting the absorption of fat-soluble nutrients. Signaling in pancreatic cells that lead to inflammation may be influenced by fatty acids (FAs) through diet and de novo lipogenesis. Here, we investigated the relationship between plasma FA composition in CP with heterogeneity of etiology and complications of CP. MATERIALS AND METHODS: Blood and clinical parameters were collected from subjects with CP (n = 47) and controls (n = 22)...
March 13, 2024: Pancreas
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