Oct 23rd, 2021 - The FDA has approved a first-of-its kind continuous delivery system for anti-VEGF therapy for neovascular (wet) age-related macular degeneration (AMD). The Susvimo ocular implant continuously releases 100 mg/mL of ranibizumab directly to the retina over 6 months. Initial implantation and refill can be performed during an office visit with an ophthalmologist. In contrast, conventional intravitre...
American Journal of Speech-language Pathology; Scheffel L, Duffy JR et. al.
Oct 23rd, 2021 - Purpose This study compared performance on three-word fluency measures among individuals with primary progressive aphasia (PPA) and primary progressive apraxia of speech (PPAOS), and examined the relationship between word fluency and other measures of language and speech. Method This study included 106 adults with PPA and 30 adults with PPAOS. PPA participants were divided into three clinical s...
Autophagy Ramachandra Rao S, Fliesler SJ
Oct 23rd, 2021 - We describe the utility of a tandem-tagged autophagy reporter mouse model (CAG-RFP-EGFP-MAP1LC3B) in investigating basal macroautophagic/autophagic flux in the neural retina. Western blot, in situ hybridization, immunohistochemistry, and confocal microscopy showed that CAG promoter-driven expression of RFP-EGFP-MAP1LC3B increased "cytosolic" RFP-EGFP-LC3B-I levels, whereas RFP-EGFP-LC3B-II deco...
Hematology (Amsterdam, Netherlands); Yu T, Chi J et. al.
Oct 23rd, 2021 - Acute myeloid leukemia (AML) is a malignant disease of the hematopoietic system. Residual leukemic cells after treatment are associated with relapse. Thus, detecting minimal residual disease (MRD) is significant. Major techniques for MRD assessment include multiparameter flow cytometry (MFC), polymerase chain reaction (PCR), and next-generation sequencing (NGS). At a molecular level, AML is the...
Pediatric and Developmental Pathology : the Official Jour... Nishimaki H, Nakanishi Y et. al.
Oct 23rd, 2021 - Peripheral neuroblastic tumors (pNTs) are the most common childhood extracranial solid tumors. There are several therapeutic strategies targeting disialoganglioside GD2. Disialoganglioside GD3 has become a potential target. However, the mechanism by which pNTs express GD3 and GD2 remains unclear. We investigated the combined expression status of GD3 and GD2 in pNTs and delineated their clinicop...
Neurology Liao YC, Chang FP et. al.
Oct 23rd, 2021 - The GGC repeat expansion in the 5' untranslated region of NOTCH2NLC was recently identified as the cause of neuronal intranuclear inclusion disease (NIID), which may manifest with peripheral neuropathy. The aim of this study is to investigate its contribution to inherited neuropathy. This cohort study screened patients with molecularly undiagnosed Charcot-Marie-Tooth disease (CMT) and healthy c...
Molecular Cancer Research : MCR; Pinto EM, Maxwell KN et. al.
Oct 23rd, 2021 - Germline TP53 splicing variants are uncommon, and their clinical relevance is unknown. However, splice-altering variants at exon 4-intron 4 junctions are relatively enriched in pediatric adrenocortical tumors (ACTs). Nevertheless, family histories of cancer compatible with classic Li-Fraumeni syndrome are rarely seen in these patients. We used conventional and in-silico assays to determine prot...
Journal of Medical Genetics; Serpieri V, D'Abrusco F et. al.
Oct 23rd, 2021 - Joubert syndrome (JS) is a recessively inherited ciliopathy characterised by congenital ocular motor apraxia (COMA), developmental delay (DD), intellectual disability, ataxia, multiorgan involvement, and a unique cerebellar and brainstem malformation. Over 40 JS-associated genes are known with a diagnostic yield of 60%-75%.In 2018, we reported homozygous hypomorphic missense variants of the SUF...
Practical Neurology; Tsunogae M, Yoshimura H et. al.
Oct 23rd, 2021 - Localised chiasmal optic neuritis in neuromyelitis optica spectrum disorder.|2021|Tsunogae M,Yoshimura H,Matsuzaki M,Yokota S,Kawamoto M,|
Journal of Medical Genetics; Fan Y, Xu Y et. al.
Oct 23rd, 2021 - GGC repeat expansion in the 5' untranslated region of NOTCH2NLC is the most common causative factor in neuronal intranuclear inclusion disease (NIID) in Asians. Such expanded GGC repeats have been identified in patients with leukoencephalopathy, essential tremor (ET), multiple system atrophy, Parkinson's disease (PD), amyotrophic lateral sclerosis and oculopharyngodistal myopathy (OPDM). Herein...
Thorax Nathan N, Montagne ME et. al.
Oct 23rd, 2021 - Inorganic antigens may contribute to paediatric sarcoidosis. Thirty-six patients matched with 36 healthy controls as well as a group of 21 sickle-cell disease (SCD) controls answered an environmental questionnaire. Patients' indirect exposure to inorganic particles, through coresidents' occupations, was higher than in healthy and SCD controls (median score: 2.5 (0.5-7) vs 0.5 (0-2), p=0.003 and...
https://doi.org/10.1038/s41593-021-00923-4 10.1126/science.1247125 10.1038/nature22047 10.1038/nature12517 10.1136/jnnp-2013-307135 10.1038/s41593-019-0350-2 10.1016/j.stem.2020.02.002 10.1016/j.celrep.2020.01.038 10.1038/s41467-020-19264-0 10.1126/sciadv.abb1540 10.1038/s41592-018-0255-0 10.1038/s41586-020-1962-0 10.1038/s41591-019-0436-0 10.1038/nature20413 10.1016/j.neuron.2011.06.031 10.1016/j.neuron.2019.06.011 10.1126/science.aap8809 10.1038/nature25980 10.1038/nmeth.4644 10.1038/s41467-018-06331-w 10.1093/hmg/ddx022 10.1093/hmg/ddz104 10.1186/s40478-019-0797-0 10.1016/j.cels.2020.10.010 10.1038/nn.4065 10.1186/s13023-016-0531-y 10.1038/s41467-020-17514-9 10.3389/fncel.2019.00368 10.1186/1471-2105-9-559 10.1038/nmeth.4463 10.1016/j.cell.2017.10.042 10.1093/hmg/ddx350 10.1007/s00401-013-1232-4 10.1007/s00401-014-1336-5 10.1007/s12192-018-0897-y 10.1097/NEN.0000000000000102 10.1186/s40478-019-0694-6 10.1080/15548627.2015.1100356 10.1080/15548627.2018.1474314 10.1093/hmg/ddx170 10.1038/nn.4604 10.1038/nn.4272 10.1038/nrn.2016.101 10.1101/gad.2021311 10.1038/cddis.2015.49 10.1038/cdd.2017.58 10.15252/emmm.201809423 10.1126/sciadv.abd9036 10.1016/j.neuron.2020.04.009 10.1186/s40478-020-01030-4 10.1186/s40478-020-00961-2 10.1007/s00401-015-1445-9 10.1016/j.neuron.2019.12.014 10.1038/s41593-020-00783-4 10.1038/nbt.3906 10.1016/j.semcdb.2020.05.013 10.1038/s41586-020-2625-x 10.1093/brain/awr365 10.1038/nbt.4133 10.1016/j.celrep.2020.107800 10.1038/nprot.2006.5 10.1038/s41467-017-01283-z 10.1007/s13238-018-0599-3 10.1038/nm.4400 10.1371/journal.pbio.2005970 10.1016/j.tcb.2013.09.003 10.1038/nn.3460 10.1038/nbt.4096 10.1016/j.neurobiolaging.2013.11.034 10.1016/j.neuron.2011.09.011 10.1523/JNEUROSCI.2767-14.2014
Nature Neuroscience; Szebényi K, Wenger LMD et. al.
Oct 23rd, 2021 - Amyotrophic lateral sclerosis overlapping with frontotemporal dementia (ALS/FTD) is a fatal and currently untreatable disease characterized by rapid cognitive decline and paralysis. Elucidating initial cellular pathologies is central to therapeutic target development, but obtaining samples from presymptomatic patients is not feasible. Here, we report the development of a cerebral organoid slice...
Drug Design, Development and Therapy; Ling Y, Hao ZY et. al.
Oct 23rd, 2021 - Pyridine-based ring systems are one of the most extensively used heterocycles in the field of drug design, primarily due to their profound effect on pharmacological activity, which has led to the discovery of numerous broad-spectrum therapeutic agents. In the US FDA database, there are 95 approved pharmaceuticals that stem from pyridine or dihydropyridine, including isoniazid and ethionamide (t...
The Journal of Physiology; McKendry J, Phillips SM
Oct 23rd, 2021 - Unravelling protein turnover in duchenne muscular dystrophy: One protein at a time.|2021|McKendry J,Phillips SM,|
Prenatal Diagnosis; Molina-Giraldo S, Salcedo RZ et. al.
Oct 23rd, 2021 - Prenatal myelomeningocele (MMC) repair has been shown to improve neurological outcomes. It has been suggested that decreases in the hysterotomy diameter during surgery can improve perinatal outcomes without altering neurologic outcomes. The objective of this study is to describe and compare the main maternal and fetal outcomes of fetuses undergoing open surgery for MMC repair, through the diffe...
Nephrology (Carlton, Vic.); Paranhos RM, de Souza Figueiredo GA et. al.
Oct 23rd, 2021 - Immunoglobulin A nephropathy is the main cause of glomerulonephritis globally and an important etiology of end-stage renal disease in children. It has been considered an autoimmune disease that can lead to the production of autoantibodies against abnormal IgA1 and formation of immune complexes. These autoantibodies and immune complexes deposit in the glomeruli, resulting in renal injury. At the...
Dermatologic Therapy; Hawat T, Ballouz S et. al.
Oct 23rd, 2021 - Pediatric discoid lupus erythematosus is a rare inflammatory skin disorder. This paper aims to review all the available clinical and therapeutic data on reported cases of pediatric discoid lupus erythematosus. A systematic review of the literature was conducted using Pubmed and Embase with no limitation on publication date, sex or nationality. 32 articles were included with 201 cases, a mean ag...
Proteomics. Clinical Applications; Sosa-Acosta P, Melani RD et. al.
Oct 23rd, 2021 - During pregnancy, the vertical transmission of the Zika virus (ZIKV) can cause some disorders in the fetus, called Congenital Zika Syndrome (CZS). Several efforts have been made to understand the molecular mechanism of the CZS. However, the study of CZS pathogenesis through infected human samples is scarce. Therefore, the main goal of this study is to identify and understand the biological proc...
Journal of Cachexia, Sarcopenia and Muscle; Go SI, Park MJ et. al.
Oct 23rd, 2021 - Cancer cachexia is known to adversely affect the clinical course in patients with malignant lymphoma. The cachexia index (CXI) is a potential biomarker of cancer cachexia, and its implications for the prognosis and treatment outcome of lung cancer and aggressive lymphoma has been assessed in previous studies. A total of 267 patients diagnosed with diffuse large B-cell lymphoma who were treated ...
Multiple Sclerosis (Houndmills, Basingstoke, England); Delgado-García G, Corona T
Oct 23rd, 2021 - Air pollution is a risk factor for multiple sclerosis - No.|2021|Delgado-García G,Corona T,|