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Genetic neuropathies

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https://www.readbyqxmd.com/read/28209298/utidelone-plus-capecitabine-versus-capecitabine-alone-for-heavily-pretreated-metastatic-breast-cancer-refractory-to-anthracyclines-and-taxanes-a-multicentre-open-label-superiority-phase-3-randomised-controlled-trial
#1
Pin Zhang, Tao Sun, Qingyuan Zhang, Zhongyu Yuan, Zefei Jiang, Xiao Jia Wang, Shude Cui, Yuee Teng, Xi-Chun Hu, Junlan Yang, Hongming Pan, Zhongsheng Tong, Huiping Li, Qiang Yao, Yongsheng Wang, Yongmei Yin, Ping Sun, Hong Zheng, Jing Cheng, Jinsong Lu, Baochun Zhang, Cuizhi Geng, Jian Liu, Roujun Peng, Min Yan, Shaohua Zhang, Jian Huang, Li Tang, Rongguo Qiu, Binghe Xu
BACKGROUND: Utidelone, a genetically engineered epothilone analogue, has shown promise as a potential treatment for breast cancer in phase 1 and 2 trials. The aim of this phase 3 trial was to compare the efficacy and safety of utidelone plus capecitabine versus capecitabine alone in patients with metastatic breast cancer. METHODS: We did a multicentre, open-label, superiority, phase 3, randomised controlled trial in 26 hospitals in China. Eligible participants were female patients with metastatic breast cancer refractory to anthracycline and taxane chemotherapy regimens...
February 10, 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28202949/clinical-diversity-caused-by-novel-ighmbp2-variants
#2
Jun-Hui Yuan, Akihiro Hashiguchi, Akiko Yoshimura, Hiroshi Yaguchi, Koji Tsuzaki, Azusa Ikeda, Kenji Wada-Isoe, Masahiro Ando, Tomonori Nakamura, Yujiro Higuchi, Yu Hiramatsu, Yuji Okamoto, Hiroshi Takashima
Immunoglobulin helicase μ-binding protein 2 (IGHMBP2) gene is responsible for Charcot-Marie-Tooth disease (CMT) type 2S and spinal muscular atrophy with respiratory distress type 1 (SMARD1). From June 2014 to December 2015, we collected 408 cases, who referred to our genetic laboratory for genetic analysis, suspected with CMT disease or other inherited peripheral neuropathies (IPNs) on the basis of clinical manifestations and electrophysiological studies. Mutation screening was performed using Ion AmpliSeq Custom Panels, which comprise 72 disease-causing or candidate genes of IPNs...
February 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28202889/treatment-of-transthyretin-familial-amyloid-polyneuropathy-with-tafamidis-a-case-report
#3
Yoshimichi Miyazaki
INTRODUCTION: Familial amyloid polyneuropathy (FAP) is a rare hereditary disorder caused by mutations in the transthyretin (TTR) gene. Tafamidis is a TTR stabilizer able to prevent TTR tetramer dissociation, and several studies have demonstrated its safety and efficacy at slowing the progression of neuropathy in FAP caused by the TTR Val30Met mutation. However, nerve conduction study (NCS) and electromyography (EMG) results have yet to be reported in relation to FAP progression during tafamidis therapy...
2017: Nihon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics
https://www.readbyqxmd.com/read/28192073/recurrent-and-novel-mutations-in-the-ntrk1-gene-lead-to-rare-congenital-insensitivity-to-pain-with-anhidrosis-in-two-chinese-patients
#4
Fang Lv, Xiao-Jie Xu, Yu-Wen Song, Lu-Jiao Li, Ou Wang, Yan Jiang, Wei-Bo Xia, Xiao-Ping Xing, Peng Gao, Mei Li
BACKGROUND: Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive autonomic and sensory neuropathy. CIPA is associated with various mutations in NTRK1. CASES: Two unrelated Chinese patients presented separately with symptoms of insensitivity to pain, inability to sweat, repeated painless fractures, and Charcot arthropathy were recruited. Both of them were clinically diagnosed with CIPA. Increased serum bone resorption marker (β-CTX) levels and decreased BMD were observed in both patients...
February 10, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28186610/-progress-in-research-on-pathogenic-genes-and-gene-therapy-for-inherited-retinal-diseases
#5
Ling Zhu, Cong Cao, Jiji Sun, Tao Gao, Xiaoyang Liang, Zhipeng Nie, Yanchun Ji, Pingping Jiang, Minxin Guan
Inherited retinal diseases (IRDs), including retinitis pigmentosa, Usher syndrome, Cone-Rod degenerations, inherited macular dystrophy, Leber's congenital amaurosis, Leber's hereditary optic neuropathy are the most common and severe types of hereditary ocular diseases. So far more than 200 pathogenic genes have been identified. With the growing knowledge of the genetics and mechanisms of IRDs, a number of gene therapeutic strategies have been developed in the laboratory or even entered clinical trials. Here the progress of IRD research on the pathogenic genes and therapeutic strategies, particularly gene therapy, are reviewed...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28173645/-peripheral-nerve-injury-in-lama2-related-congenital-muscular-dystrophy-patients
#6
X P Liang, S Wang, W Zhang, Y Yuan, J Ding, X Z Chang, C J Wei, J Y Liu, H Xiong
Objective: To explore the injury pattern and features of peripheral nerve in congenital muscular dystrophy patients caused by LAMA2 gene mutation. Method: Seventeen patients genetically or molecular pathologically diagnosed as LAMA2-related congenital muscular dystrophy were recruited in Peking University First Hospital between 2002 and 2015. All the patients received nerve conduction velocity (NCV) and needle electromyography tests. Clinical and laboratory examination data of the patients was retrospectively analyzed...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28171867/analysis-of-the-interleukin-6-174-locus-polymorphism-and-serum-il-6-levels-with-the-severity-of-normal-tension-glaucoma
#7
Ching-Yu Wang, Chiao-Ying Liang, Shih-Chao Feng, Keng-Hung Lin, Hsin-Nung Lee, Ying-Cheng Shen, Li-Chen Wei, Chia-Jen Chang, Min-Yen Hsu, Yi-Yin Yang, Chun-Hung Chiu, Chun-Yuan Wang
PURPOSE: In normal tension glaucoma (NTG), factors other than elevated intraocular pressure are likely to have a role in the pathogenesis of optic neuropathy. Recent studies of glaucoma or retinal ganglion cells (RGCs) reveal that the cytokine interleukin-6 (IL-6) is linked to the pathogenesis of glaucoma and may regulate RGC survival or death. The IL-6 (-174) G allele has also been shown to increase the IL-6 protein. We hypothesized that the IL-6 (-174) polymorphism may be a predisposing genetic factor affecting the severity of glaucoma...
February 8, 2017: Ophthalmic Research
https://www.readbyqxmd.com/read/28169005/nelarabine-associated-reversible-guillain-barr%C3%A3-like-syndrome-or-myelopathy-in-an-adult-patient-with-primary-refractory-t-lymphoblastic-lymphoma
#8
Chrysavgi Lalayanni, Eirini Baldoumi, Sotiris Papayiannopoulos, Konstantia Tziola, Riad Saloum, Achilles Anagnostopoulos
Nelarabine is a purine analogue used for the treatment of patients with relapsed or refractory T-cell acute lymphoblastic leukemia and T-cell lymphoblastic lymphoma mainly as a bridge to stem cell transplantation. The water-soluble prodrug of 9-beta-D-arabinofuranosyl guanine (Ara-G) is phosphorylated within leukemic cells to form ara-G triphosphate (ara-GTP), which terminates DNA chain elongation, resulting in cell death. The drug received accelerated approval by the US Food and Drug Administration (FDA) on October 2005 based on the induction of complete remissions in 2 phase II trials...
November 17, 2016: Current Problems in Cancer
https://www.readbyqxmd.com/read/28167615/the-familial-dysautonomia-disease-gene-ikbkap-elp1-is-required-in-the-developing-and-adult-central-nervous-system
#9
Marta Chaverra, Lynn George, Marc Mergy, Hannah Waller, Katharine Kujawa, Connor Murnion, Ezekiel Sharples, Julian Thorne, Nathaniel Podgajny, Andrea Grindeland, Yumi Ueki, Steven Eiger, Cassie Cusick, A Michael Babcock, George A Carlson, Frances Lefcort
Hereditary sensory and autonomic neuropathies (HSANs) are a genetically and clinically diverse group of disorders defined by peripheral nervous system (PNS) dysfunction. HSAN Type III, Familial Dysautonomia (FD), results from a single base mutation in the gene IKBKAP that encodes a scaffolding unit for a multi-subunit complex Elongator. Since mutations in other Elongator subunits (ELP2-4) are associated with central nervous system (CNS) disorders, the goal of this study was to investigate a potential CNS requirement for Ikbkap/Elp1 The sensory and autonomic pathophysiology of FD is fatal, with the majority of patients dying by age 40...
February 6, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28144995/axonal-neuropathies-due-to-mutations-in-small-heat-shock-proteins-clinical-genetic-and-functional-insights-into-novel-mutations
#10
Andoni Echaniz-Laguna, Thomas Geuens, Philippe Petiot, Yann Péréon, Elias Adriaenssens, Mansour Haidar, Simona Capponi, Thierry Maisonobe, Emmanuel Fournier, Odile Dubourg, Bertrand Degos, François Salachas, Timothée Lenglet, Bruno Eymard, Emilien Delmont, Jean Pouget, Raoul Morales, Cyril Goizet, Philippe Latour, Vincent Timmerman, Tanya Stojkovic
In this study, we describe the phenotypic spectrum of distal hereditary motor neuropathy caused by mutations in the small heat shock proteins HSPB1 and HSPB8 and investigate the functional consequences of newly discovered variants. Among 510 unrelated patients with distal motor neuropathy, we identified mutations in HSPB1 (28 index patients/510; 5.5%) and HSPB8 (4 index patients/510; 0.8%) genes. Patients have slowly progressive distal (100%) and proximal (13%) weakness in lower limbs (100%), mild lower limbs sensory involvement (31%), foot deformities (73%), progressive distal upper limb weakness (29%), mildly raised serum creatine kinase levels (100%) and central nervous system involvement (9%)...
February 1, 2017: Human Mutation
https://www.readbyqxmd.com/read/28131554/-hereditary-neuropathy-with-liability-to-pressure-palsies-in-childhood-report-of-three-cases
#11
C Bar, F Villéga, C Espil, M Husson, J-M Pedespan, M-F Rouanet
Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant neuropathy. It is characterized by recurrent sensory and motor nerve palsies, usually precipitated by minor trauma or compression. Even though rare in childhood, this disorder is probably underdiagnosed given its wide spectrum of clinical symptoms. We review three separate cases of HNPP diagnosed in children with various phenotypes: fluctuating and distal paresthesias disrupting learning at school, cramps related to intensive piano practice, and discrete muscle weakness with no functional complaint...
January 25, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28130605/novel-polg-mutations-and-variable-clinical-phenotypes-in-13-italian-patients
#12
Paola Da Pozzo, Elena Cardaioli, Anna Rubegni, Gian Nicola Gallus, Alessandro Malandrini, Alessandra Rufa, Carla Battisti, Maria Alessandra Carluccio, Raffaele Rocchi, Fabio Giannini, Amedeo Bianchi, Michelangelo Mancuso, Gabriele Siciliano, Maria Teresa Dotti, Antonio Federico
POLG gene encodes the catalytic subunit of DNA polymerase gamma, essential for mitochondrial DNA (mtDNA) replication and repair. Mutations in POLG have been linked to a spectrum of clinical phenotypes, resulting in autosomal recessive or dominant mitochondrial diseases. These mutations have been associated with heterogeneous phenotypes, presenting with varying severity and at different ages of onset, ranging from the neonatal period to late adult life. We screened 13 patients for POLG mutations. All patients underwent a complete neurological examination, and in most of cases, muscle biopsy was performed...
January 27, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28123430/hla-class-ii-alleles-and-risk-for-peripheral-neuropathy-in-type-2-diabetes-patients
#13
Ahmad Marzban, Javad Kiani, Mehrdad Hajilooi, Hamzeh Rezaei, Zohreh Kahramfar, Ghasem Solgi
The potential impact of human leukocyte antigen (HLA) genotype variations on development of diabetic peripheral neuropathy (DPN) is not well determined. This study aimed to identify the association of HLA class II alleles with DPN in type 2 diabetes (T2D) patients. Totally 106 T2D patients, 49 with DPN and 57 without DPN, and 100 ethnic-matched healthy controls were analyzed. Both groups of the patients were matched based on sex, age, body mass index (BMI) and duration of T2D. Polyneuropathy was diagnosed using electrodiagnostic methods...
November 2016: Neural Regeneration Research
https://www.readbyqxmd.com/read/28119449/in-vivo-modelling-of-the-pathogenic-effect-of-copper-transporter-mutations-that-cause-menkes-and-wilson-disease-motor-neuropathy-and-susceptibility-to-alzheimer-s-disease
#14
Stephen W Mercer, Jianbin Wang, Richard Burke
Copper is an essential biometal and several inherited diseases are directly associated with a disruption to normal copper homeostasis. The best characterised are the copper deficiency and toxicity disorders Menkes and Wilson disease, caused by mutations in the p-Type Cu-ATPase genes ATP7A and ATP7B respectively. Missense mutations in the C-terminal portion of ATP7A have also been shown to cause Distal Motor Neuropathy while polymorphisms in ATP7B are associated with increased risk of Alzheimer's disease. We have generated a single, in vivo model for studying multiple pathogenic mutations in ATP7 proteins, using Drosophila melanogaster, which has a single orthologue of ATP7A and ATP7B...
January 24, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28116953/brown-vialetto-van-laere-syndrome-as-a-mimic-of-neuroimmune-disorders
#15
Tyler Allison, Inés Roncero, Rob Forsyth, Keith Coffman, Jean-Baptiste Le Pichon
We present 3 patients identified at 2 different institutions with Brown-Vialetto-Van Laere syndrome. Each patient was initially diagnosed with a neuroimmune disorder for a period of a few weeks to a few months. In each case, genetic analysis revealed mutations in one of the riboflavin transporters, confirming Brown-Vialetto-Van Laere syndrome. It is likely that Brown-Vialetto-Van Laere syndrome is more common than previously reported, and because it mimics neuroimmune disorders, it may be misdiagnosed as such...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28114698/-impact-of-drugs-on-glaucoma-and-intraocular-pressure
#16
T Schlote
Purpose Systemic drugs may have unfavourable effects on intraocular pressure, glaucoma and the efficacy of glaucoma drugs. Material and Methods The article provides a review of the literature from PubMed and clinical experience. Results Topical and systemic corticosteroids induce complex changes inside the trabecular meshwork. New genetic results improve the understanding of pathogenetic processes, although many questions are still open. Arterial hypertension and antihypertonic drugs may influence the risk of glaucoma, intraocular pressure and ocular perfusion pressure...
January 23, 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28108290/pmp22-mutant-allele-specific-sirna-alleviates-demyelinating-neuropathic-phenotype-in-vivo
#17
Ji-Su Lee, Eun Hyuk Chang, Ok Jae Koo, Dong Hwan Jwa, Won Min Mo, Geon Kwak, Hyo Won Moon, Hwan Tae Park, Young Bin Hong, Byung-Ok Choi
Charcot-Marie-Tooth disease (CMT) is a genetic disorder that can be caused by aberrations in >80 genes. CMT has heterogeneous modes of inheritance, including autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive. Over 95% of cases are dominantly inherited. In this study, we investigated whether regulation of a mutant allele by an allele-specific small interfering RNA (siRNA) can alleviate the demyelinating neuropathic phenotype of CMT. We designed 19 different allele-specific siRNAs for Trembler J (Tr-J) mice harboring a naturally occurring mutation (Leu16Pro) in Pmp22...
January 17, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28103821/genetic-polymorphisms-of-scn9a-are-associated-with-oxaliplatin-induced-neuropathy
#18
María Sereno, Gerardo Gutiérrez-Gutiérrez, Juan Moreno Rubio, María Apellániz-Ruiz, Lara Sánchez-Barroso, Enrique Casado, Sandra Falagan, Miriam López-Gómez, María Merino, César Gómez-Raposo, Nuria Rodriguez-Salas, Francisco Zambrana Tébar, Cristina Rodríguez-Antona
BACKGROUND: Oxaliplatin is a chemotherapy agent active against digestive tumors. Peripheral neuropathy is one of the most important dose-limiting toxicity of this drug. It occurs in around 60-80% of the patients, and 15% of them develop severe neuropathy. The pathophysiology of oxaliplatin neurotoxicity remains unclear. SCN9A is a gene codifying for a subtype sodium channel (type IX, subunit α) and mutations in this gene are involved in neuropathic perception. In this study we investigated whether SCN9A genetic variants were associated with risk of neurotoxicity in patients diagnosed of cancer on treatment with oxaliplatin...
January 19, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28098594/mediators-of-diabetic-neuropathy-is-hyperglycemia-the-only-culprit
#19
Anna Grisold, Brian C Callaghan, Eva L Feldman
PURPOSE OF REVIEW: Diabetic peripheral neuropathy (DPN) is a disabling, highly prevalent complication of both type 1 and type 2 diabetes mellitus (T1DM and T2DM). Large clinical studies support the concept that, in addition to hyperglycemia, components of the metabolic syndrome (MetS) may underlie the pathogenesis of DPN, especially in T2DM. This review will present the evidence supporting the MetS and its individual components as potential causal factors for the development of neuropathy...
January 16, 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/28081242/genetic-and-clinical-analyses-of-doa-and-lhon-in-304-chinese-patients-with-suspected-childhood-onset-hereditary-optic-neuropathy
#20
Yadi Li, Jie Li, Xiaoyun Jia, Xueshan Xiao, Shiqiang Li, Xiangming Guo
Leber hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA), the most common forms of hereditary optic neuropathy, are easily confused, and it is difficult to distinguish one from the other in the clinic, especially in young children. The present study was designed to survey the mutation spectrum of common pathogenic genes (OPA1, OPA3 and mtDNA genes) and to analyze the genotype-phenotype characteristics of Chinese patients with suspected childhood-onset hereditary optic neuropathy. Genomic DNA and clinical data were collected from 304 unrelated Chinese probands with suspected hereditary optic neuropathy with an age of onset below 14 years...
2017: PloS One
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