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JOURNAL ARTICLE
Bogdan Bjelica, Camilla Wohnrade, Iraima Cespedes, Alma Osmanovic, Olivia Schreiber-Katz, Susanne Petri
BACKGROUND: We aimed to describe the experience of a single neuromuscular center in Germany in treating adult spinal muscular atrophy (SMA) patients with risdiplam and to analyze motor function and treatment satisfaction during a follow-up period up to 20 months. METHODS: Fourteen patients with type 2 or 3 SMA (seven with SMA type 2, six with SMA type 3; age range: 18-51) were included. The Revised Upper Limb Module (RULM) and the Hammersmith Functional Motor Scale Expanded (HFMSE) were recorded at baseline and at follow-up (month 4, 8, 12, 16, 20)...
February 17, 2024: BMC Neurology
#22
JOURNAL ARTICLE
René Günther, Claudia Diana Wurster, Svenja Brakemeier, Alma Osmanovic, Olivia Schreiber-Katz, Susanne Petri, Zeljko Uzelac, Miriam Hiebeler, Simone Thiele, Maggie C Walter, Markus Weiler, Tobias Kessler, Maren Freigang, Hanna Sophie Lapp, Isabell Cordts, Paul Lingor, Marcus Deschauer, Andreas Hahn, Kyriakos Martakis, Robert Steinbach, Benjamin Ilse, Annekathrin Rödiger, Julia Bellut, Julia Nentwich, Daniel Zeller, Mohamad Tareq Muhandes, Tobias Baum, Jan Christoph Koch, Bertold Schrank, Sophie Fischer, Andreas Hermann, Christoph Kamm, Steffen Naegel, Alexander Mensch, Markus Weber, Christoph Neuwirth, Helmar C Lehmann, Gilbert Wunderlich, Christian Stadler, Maike Tomforde, Annette George, Martin Groß, Astrid Pechmann, Janbernd Kirschner, Matthias Türk, Mareike Schimmel, Günther Bernert, Pascal Martin, Christian Rauscher, Gerd Meyer Zu Hörste, Petra Baum, Wolfgang Löscher, Marina Flotats-Bastardas, Cornelia Köhler, Kristina Probst-Schendzielorz, Susanne Goldbach, Ulrike Schara-Schmidt, Wolfgang Müller-Felber, Hanns Lochmüller, Otgonzul von Velsen, Christoph Kleinschnitz, Albert C Ludolph, Tim Hagenacker
BACKGROUND: Evidence for the efficacy of nusinersen in adults with 5q-associated spinal muscular atrophy (SMA) has been demonstrated up to a period of 16 months in relatively large cohorts but whereas patients reach a plateau over time is still to be demonstrated. We investigated the efficacy and safety of nusinersen in adults with SMA over 38 months, the longest time period to date in a large cohort of patients from multiple clinical sites. METHODS: Our prospective, observational study included adult patients with SMA from Germany, Switzerland, and Austria (July 2017 to May 2022)...
April 2024: The Lancet regional health. Europe
#23
JOURNAL ARTICLE
S Brakemeier, J Lipka, M Schlag, C Kleinschnitz, T Hagenacker
BACKGROUND: 5q-associated spinal muscular atrophy (SMA) is characterized by the progressive loss of motor neurons with consecutive weakness and atrophy of the limb, respiratory, and bulbar muscles. While trunk and limb motor function improve or stabilize in adults with SMA under nusinersen and risdiplam treatment, the efficacy on bulbar function in this age group of patients remains uncertain. However, it is important to assess bulbar dysfunction, which frequently occurs in the disease course and is associated with increased morbidity and mortality...
February 15, 2024: Journal of Neurology
#24
JOURNAL ARTICLE
Constanze Weber, Anne Müller, Maren Freigang, Maja von der Hagen, René Günther
BACKGROUND: Innovative RNA modifying and gene replacement therapies are currently revolutionizing the therapeutic landscape in 5q-associated spinal muscular atrophy (SMA). In order to provide individual recommendations for choice of treatment and therapy (dis-) continuation, objective outcome measures are needed. The purpose of this study was to determine whether maximum isometric voluntary grip and finger flexion strength is a useful sensitive outcome measure in children and adult patients with SMA...
February 7, 2024: Brain & Development
#25
JOURNAL ARTICLE
Edmar Zanoteli, Alexandra Prufer de Queiróz Campos Araujo, Michele Michelin Becker, Clarisse Pereira Dias Drumond Fortes, Marcondes Cavalcante França, Marcela Camara Machado-Costa, Wilson Marques, Ciro Matsui, Rodrigo Holanda Mendonça, Flávia Nardes, Acary Souza Bulle Oliveira, Andre Luis Santos Pessoa, Jonas Alex Morales Saute, Paulo Sgobbi, Hélio Van der Linden, Juliana Gurgel-Giannetti
Spinal muscular atrophy linked to chromosome 5 (SMA-5q) is an autosomal recessive genetic disease caused by mutations in the SMN1 . SMA-5q is characterized by progressive degeneration of the spinal cord and bulbar motor neurons, causing severe motor and respiratory impairment with reduced survival, especially in its more severe clinical forms. In recent years, highly effective disease-modifying therapies have emerged, either acting by regulating the splicing of exon 7 of the SMN2 gene or adding a copy of the SMN1 gene through gene therapy, providing a drastic change in the natural history of the disease...
January 2024: Arquivos de Neuro-psiquiatria
#26
JOURNAL ARTICLE
Cedric Lebacle, Aydin Pooli, Brian Shuch, Nagesh Rao, Karim Chamie, Nils Kroeger, Izak Faiena, Sandy Liu, Erika L Wood, Arie Belldegrun, Alexandra Drakaki, Allan J Pantuck
Approximately 65% of renal cell carcinomas (RCC) are diagnosed at a localized stage. We investigated the chromosome 5q gain impact on disease-free survival (DFS) in RCC patients. Overall, 676 patients with stages 1-2 RCC and having cytogenetic analysis were included. Gain of 5q was observed in 108 patients, more frequently in clear cell (ccRCC) than non-clear cell tumors. Gain of 5q is likely an independent prognostic factor since the concerned patients had a decreased recurrence risk in stages 1-2 RCC, confirmed in multivariable analysis...
February 5, 2024: Cancer Investigation
#27
JOURNAL ARTICLE
A A van de Loosdrecht, E M P Cremers, C Alhan, C Duetz, F E M In 't Hout, H A Visser-Wisselaar, D A Chitu, A Verbrugge, S M Cunha, G J Ossenkoppele, J J W M Janssen, S K Klein, E Vellenga, G A Huls, P Muus, S M C Langemeijer, G E de Greef, P A W Te Boekhorst, M H G Raaijmakers, M van Marwijk Kooy, M C Legdeur, J J Wegman, W Deenik, O de Weerdt, T M van Maanen-Lamme, P Jobse, R J W van Kampen, A Beeker, P W Wijermans, B J Biemond, B C Tanis, J W J van Esser, C G Schaar, H S Noordzij-Nooteboom, E M G Jacobs, A O de Graaf, M Jongen-Lavrencic, M J P L Stevens-Kroef, T M Westers, J H Jansen
A randomized phase-II study was performed in low/int-1 risk MDS (IPSS) to study efficacy and safety of lenalidomide without (arm A) or with (arm B) ESA/G-CSF. In arm B, patients without erythroid response (HI-E) after 4 cycles received ESA; G-CSF was added if no HI-E was obtained by cycle 9. HI-E served as primary endpoint. Flow cytometry and next-generation sequencing were performed to identify predictors of response. The final evaluation comprised 184 patients; 84% non-del(5q), 16% isolated del(5q); median follow-up: 70...
January 31, 2024: Leukemia
#28
REVIEW
Antonella Bruzzese, Enrica Antonia Martino, Francesco Mendicino, Eugenio Lucia, Virginia Olivito, Isabella Capodanno, Antonino Neri, Fortunato Morabito, Ernesto Vigna, Massimo Gentile
Myelodysplastic syndromes (MDS) encompass a heterogeneous set of acquired bone marrow neoplastic disorders characterized by ineffective hematopoiesis within one or more bone marrow lineages. Nearly half of MDS patients carry cytogenetic alterations, with del(5q) being the most prevalent. Since its first description, del(5q) was consistently correlated with a typical clinical phenotype marked by anemia, thrombocytosis, and a low risk of evolving into acute leukemia. Presently, the World Health Organization (WHO) classification of myeloid neoplasms recognizes a specific subtype of MDS known as "myelodysplastic neoplasm with low blast and isolated del(5q)" identified by the sole presence of 5q deletion or in combination with one other abnormality excluding -7/del(7q)...
January 31, 2024: European Journal of Haematology
#29
JOURNAL ARTICLE
Jean-Baptiste Pérot, Anna Niewiadomska-Cimicka, Emmanuel Brouillet, Yvon Trottier, Julien Flament
SpinoCerebellar Ataxia type 7 (SCA7) is an inherited disorder caused by CAG triplet repeats encoding polyglutamine expansion in the ATXN7 protein, which is part of the transcriptional coactivator complex SAGA. The mutation primarily causes neurodegeneration in the cerebellum and retina, as well as several forebrain structures. The SCA7140Q/5Q knock-in mouse model recapitulates key disease features, including loss of vision and motor performance. To characterize the temporal progression of brain degeneration of this model, we performed a longitudinal study spanning from early to late symptomatic stages using high-resolution magnetic resonance imaging (MRI) and in vivo 1H-magnetic resonance spectroscopy (1H-MRS)...
2024: PloS One
#30
(no author information available yet)
[This corrects the article DOI: 10.1212/NXG.0000000000200087.].
February 2024: Neurology. Genetics
#31
JOURNAL ARTICLE
Qian Liu, Jing Zhang, Chenchen Guo, Mengcheng Wang, Chenfei Wang, Yilv Yan, Liangdong Sun, Di Wang, Lele Zhang, Huansha Yu, Likun Hou, Chunyan Wu, Yuming Zhu, Gening Jiang, Hongwen Zhu, Yanting Zhou, Shanhua Fang, Tengfei Zhang, Liang Hu, Junqiang Li, Yansheng Liu, Hui Zhang, Bing Zhang, Li Ding, Ana I Robles, Henry Rodriguez, Daming Gao, Hongbin Ji, Hu Zhou, Peng Zhang
We performed comprehensive proteogenomic characterization of small cell lung cancer (SCLC) using paired tumors and adjacent lung tissues from 112 treatment-naive patients who underwent surgical resection. Integrated multi-omics analysis illustrated cancer biology downstream of genetic aberrations and highlighted oncogenic roles of FAT1 mutation, RB1 deletion, and chromosome 5q loss. Two prognostic biomarkers, HMGB3 and CASP10, were identified. Overexpression of HMGB3 promoted SCLC cell migration via transcriptional regulation of cell junction-related genes...
January 4, 2024: Cell
#32
JOURNAL ARTICLE
Pablo Rebollo, Sofía García-López, Mónica Povedano, María G Cattinari, Mercedes Martínez-Moreno, Ángeles Terrancle, Rosana Cabello-Moruno, Juan F Vázquez-Costa
INTRODUCTION: The objective of this study is to develop a clinical tool for the evaluation and follow-up of adolescent and adult patients with 5q spinal muscular atrophy (SMA) and to design its validation. METHODS: This prospective, non-interventional study will be carried out at five centres in Spain and will include patients aged 16 years or older with a confirmed diagnosis of 5q SMA (biallelic mutation of the survival motor neuron 1 [SMN1] gene). A panel of experts made up of neurologists, physiatrists and Spanish patients' association (FundAME), participated in the design of the clinical tool...
January 5, 2024: Neurology and Therapy
#33
JOURNAL ARTICLE
Tiffany R Price, Victoria Hodgkinson, Grace Westbury, Lawrence Korngut, A Micheil Innes, Christian R Marshall, Tanya N Nelson, Lijia Huang, Jillian Parboosingh, Jean K Mah
No abstract text is available yet for this article.
January 5, 2024: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
#34
JOURNAL ARTICLE
Muhammad Ayaz, Aftab Alam, Zainab, Mohammad Assad, Aneela Javed, Mohammad Shahidul Islam, Huma Rafiq, Mumtaz Ali, Waqar Ahmad, Ajmal Khan, Abdul Latif, Ahmed Al-Harrasi, Manzoor Ahmad
This research work is based on the synthesis of bis -Schiff base derivatives of the commercially available ibuprofen drug in outstanding yields through multistep reactions. Structures of the synthesized compounds were confirmed by the help of modern spectroscopic techniques including high-resolution electrospray ionization mass spectrometry (HR-ESI-MS), 1 H NMR, and 13 C NMR. The synthesized compounds were evaluated for their anticancer activity using a normal human embryonic kidney HEK293 cell and U87-malignant glioma (ATCC-HTB-14) as a cancer cell line...
December 26, 2023: ACS Omega
#35
JOURNAL ARTICLE
Wei Lang, Yingwan Luo, Lu Wang, Yudi Zhang, Chao Hu, Huanping Wang, Hongyan Tong
BACKGROUND AND OBJECTIVE: Myelodysplastic syndromes (MDS) are myeloid neoplasms characterized by ineffective hematopoiesis due to stem cell abnormalities. Monosomy 7q aberrations are a common cytogenetic abnormality in MDS. Specifically, an unbalanced translocation der(1;7)(q10;p10) [der(1;7)] has been identified in MDS patients, which is a monosomy 7q aberration variant like -7/del(7q). However, knowledge of der(1;7)'s features remains limited. Existing studies have compared the clinical and genetic characteristics of der(1;7) to those of -7/del(7q) but yielded inconsistent findings...
January 1, 2024: Cancer Medicine
#36
JOURNAL ARTICLE
Miguel Sogbe, Idoia Bilbao, Francesco P Marchese, Jon Zazpe, Annarosaria De Vito, Marta Pozuelo, Delia D'Avola, Mercedes Iñarrairaegui, Carmen Berasain, Maria Arechederra, Josepmaria Argemi, Bruno Sangro
BACKGROUND: New prognostic markers are needed to identify patients with hepatocellular carcinoma (HCC) who carry a worse prognosis. Ultra-low-pass whole-genome sequencing (ULP-WGS) (≤0.5× coverage) of cell-free DNA (cfDNA) has emerged as a low-cost promising tool to assess both circulating tumor DNA (ctDNA) fraction and large structural genomic alterations. We studied the performance of ULP-WGS of plasma cfDNA to infer prognosis in patients with HCC. METHODS: Plasma samples were obtained from patients with HCC prior to surgery, locoregional or systemic therapy, and were analyzed by ULP-WGS of cfDNA to an average genome-wide fold coverage of 0...
December 29, 2023: Clinical and Molecular Hepatology
#37
JOURNAL ARTICLE
Kiwamu Hatakeyama, Yoshikane Kikushige, Daisuke Ishihara, Shunsuke Yamamoto, Gentaro Kawano, Taro Tochigi, Toshihiro Miyamoto, Teppei Sakoda, Andy Christoforou, Yuya Kunisaki, Mitsuhiro Fukata, Koji Kato, Takumi Ito, Hiroshi Handa, Koichi Akashi
Immunomodulatory drugs (IMiDs) are key drugs for treating multiple myeloma and myelodysplastic syndrome with chromosome 5q deletion. IMiDs exert their pleiotropic effects through the interaction between cell-specific substrates and cereblon, a substrate receptor of the E3 ubiquitin ligase complex. Thus, identification of cell-specific substrates is important for understanding the effects of IMiDs. IMiDs increase the risk of thromboembolism, which sometimes results in fatal clinical outcomes. In this study, we sought to clarify the molecular mechanisms underlying IMiDs-induced thrombosis...
January 1, 2024: Blood Advances
#38
JOURNAL ARTICLE
C F Yang, C Y Hsu, L T Hsiao, S W Chen, S S Chuang
BACKGROUND: Myelodysplastic syndromes (MDS) are a group of clonal haematopoietic stem cell disorders characterised by ineffective haematopoiesis and cytopenia. Studies have reported differences in MDS between Asian and Western countries, but data from Taiwan are scarce. MATERIALS AND METHODS: In this study we analysed the clinical and pathological features of 32 Taiwanese MDS patients with del(5q) (ie, del(5q) alone [Group A, n = 11], del(5q) with one additional cytogenetic abnormality other than monosomy 7 or del(7q) [Group B, del(5q)+1; n = 6], and del(5q) with ≥2 additional cytogenetic abnormalities [Group C, n = 15])...
December 2023: Malaysian Journal of Pathology
#39
JOURNAL ARTICLE
Stijn N R Fuchs, Ursula S A Stalmann, Inge A M Snoeren, Eric Bindels, Stephani Schmitz, Bella Banjanin, Remco Hoogenboezem, Stanley van Herk, Mohamed Saad, Wencke Walter, Torsten Haferlach, Lancelot Seillier, Julio Saez-Rodriguez, Aurelien J F Dugourd, Kjong-Van Lehmann, Y Ben-Neriah, Hélène F E Gleitz, Rebekka K Schneider
It is still not fully understood how genetic haploinsufficiency in del(5q) MDS contributes to malignant transformation of hematopoietic stem cells. We asked how compound haploinsufficiency for Csnk1a1 and Egr1 in the common deleted region on chromosome 5 affects hematopoietic stem cells. Additionally, Trp53 was disrupted as the most frequently co-mutated gene in del(5q) MDS using CRISPR/Cas9 editing in hematopoietic progenitors of WT, Csnk1a1-/+, Egr1-/+, Csnk1a1/Egr1-/+ mice. A transplantable acute leukemia only developed in the Csnk1a1-/+ Trp53 edited recipient...
December 26, 2023: Blood Advances
#40
JOURNAL ARTICLE
Megan A Waldrop, Shannon Chagat, Michael Storey, Alayne Meyer, Megan Iammarino, Natalie Reash, Lindsay Alfano, Linda Lowes, Garey Noritz, Andre Prochoroff, Ian Rossman, Matthew Ginsberg, Kathryn Mosher, Eileen Broomall, Nancy Bass, Courtney Gushue, Kavitha Kotha, Grace Paul, Richard Shell, Chang-Yong Tsao, Jerry R Mendell, Anne M Connolly
5q spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease caused by absence of the SMN1 gene with three FDA approved genetic therapies which significantly improve outcomes. The AAV9 mediated gene replacement therapy, onasemnogene abeparvovec, has the greatest potential for side effects. Here we report the safety and outcomes from 46 children treated with onasemnogene abeparvovec in the state of Ohio between December 2018 and January 2023. In our cohort, onasemnogene abeparvovec treatment remained safe and no child experienced any significant adverse events, including thrombotic microangiopathy, liver failure or death...
December 2, 2023: Neuromuscular Disorders: NMD
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