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https://www.readbyqxmd.com/read/28003645/hmsn-lom-in-12-czech-patients-with-one-unusual-case-due-to-uniparental-isodisomy-of-chromosome-8
#1
Dana Šafka Brožková, Jaroslava Paulasová Schwabová, Jana Neupauerová, Jana Sabová, Marcela Krůtová, Vladimír Peřina, Marie Trková, Petra Laššuthová, Pavel Seeman
Hereditary motor and sensory neuropathy-type Lom (HMSNL), also known as CMT4D, a demyelinating neuropathy with late-onset deafness is an autosomal recessive disorder threatening Roma population worldwide. The clinical phenotype was reported in several case reports before the gene discovery. HMSNL is caused by a homozygous founder mutation p.Arg148* in the N-Myc downstream-regulated gene 1. Here, we report findings from the Czech Republic, where HMSNL was found in 12 Czech patients from eight families. In these 12 patients, 11 of the causes were due to p...
December 22, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27987779/lipid-coated-hollow-mesoporous-silica-nanospheres-for-co-delivery-of-doxorubicin-and-paclitaxel-preparation-sustained-release-cellular-uptake-and-pharmacokinetics
#2
Yang Qiu, Chao Wu, Jie Jiang, Yanna Hao, Ying Zhao, Jie Xu, Tong Yu, Peng Ji
A carrier consisting of lipid-coated hollow mesoporous silica nanospheres (L-HMSN) was produced for the combination of the water-insoluble drug (paclitaxel, PTX) and the water-soluble drug (doxorubicin, DOX). DOX was adsorbed into the nanoscale hollow structure of the hollow mesoporous silica nanospheres (HMSN) by adsorption and PTX was wrapped in the phospholipid layer of the HMSN surface by lipid film hydration method. The characterization results showed that DOX and PTX were present in the nanopheres in an amorphous state...
February 1, 2017: Materials Science & Engineering. C, Materials for Biological Applications
https://www.readbyqxmd.com/read/27982524/a-novel-ndrg1-mutation-in-a-non-romani-patient-with-cmt4d-hmsn-lom
#3
Giuseppe Piscosquito, Stefania Magri, Paola Saveri, Micaela Milani, Claudia Ciano, Laura Farina, Franco Taroni, Davide Pareyson
Charcot-Marie-Tooth disease type 4D (CMT4D), also known as Hereditary Motor Sensory Neuropathy Lom Type (HMSNL), is an autosomal recessive, early-onset, severe demyelinating neuropathy with hearing loss, caused by NDRG1 mutations. CMT4D is rare with only three known mutations, one of which (p.Arg148Ter) is found in patients of Romani ancestry and accounts for the vast majority of cases. We report a 38-year-old Italian female with motor development delay, progressive neuropathy and sensorineural deafness. MRI showed slight atrophy of cerebellum, medulla oblongata and upper cervical spinal cord...
December 16, 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27884603/cranial-nerve-involvement-in-charcot-marie-tooth-disease
#4
Nirav Das, Savannah Kandalaft, Xiao Wu, Ajay Malhotra
BACKGROUND: Charcot-Marie-Tooth Disease (CMT) is a rare disorder with less than 200,000 cases reported in the US every year, making diagnosis challenging. MR and CT imaging has become more common in the evaluation of CMT to identify areas of disease involvement. CASE REPORT: A 27-year-old female from Guatemala with a past history of polio initially presented to the emergency room for necrotizing pneumonia. MRI images demonstrated smoothly enlarged, mildly enhancing trigeminal nerves...
November 21, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27822577/combined-bortezomib-based-chemotherapy-and-p53-gene-therapy-using-hollow-mesoporous-silica-nanospheres-for-p53-mutant-non-small-cell-lung-cancer-treatment
#5
Chun Li, Junqing Hu, Wenyao Li, Guosheng Song, Jia Shen
Our previous work reported the development of a proteasome inhibitor, bortezomib (BTZ) encapsulated hollow mesoporous silica nanospheres (HMSNs), as a biocompatible and effective drug-delivery system for non-small cell lung cancer (NSCLC) therapy. Then we found that the tumor-suppressing effect of BTZ or HMSNs-BTZ was compromised in p53 null/mutant NSCLC. In fact, clinical studies have shown a beneficial effect of the combination of p53 gene therapy and chemotherapeutic drugs for patients with NSCLC, especially with the p53 gene null/mutant NSCLC...
December 20, 2016: Biomaterials Science
https://www.readbyqxmd.com/read/27764520/warburg-micro-syndrome-type-1-associated-with-peripheral-neuropathy-and-cardiomyopathy
#6
D Kabzińska, H Mierzewska, J Senderek, A Kochański
The Warburg micro syndrome (WARBM) is a genetically heterogeneous syndrome linked to at least 4 loci. At the clinical level, WARBM is characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, corpus callosum hypoplasia, severe mental retardation, and hypogonadism. In some families additional clinical features have been reported. The presence of uncommon clinical features (peripheral neuropathy, cardiomyopathy) may result in misdirected molecular diagnostics. Using the next generation sequencing approach (NGS), we were able to diagnose WARBM1 syndrome by detection of a new mutation within the RAB3GAP1 gene...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/27502085/diagnostic-accuracy-of-nerve-ultrasound-in-hereditary-and-sporadic-non-entrapment-neuropathies
#7
Kai F Loewenbrück, Markus Dittrich, Josef Böhm, Jürgen Klingelhöfer, Petra Baum, Jochen Schäfer, Rainer Koch, Alexander Storch
The objective of this study is to compare the diagnostic accuracy of nerve ultrasound (US) and nerve conduction studies (NCS) for acquired non-entrapment peripheral neuropathies (PNP) and hereditary motor and sensory neuropathies (HMSN) in a routine clinical setting. The methods are based on a single-center, prospective, examiner-blinded cross-sectional study on three subject groups of healthy controls, PNP (both enrolled by a consecutive recruitment strategy), and HMSN patients (convenience sample). A clinical reference standard based on the neuropathy impairment (NIS) and neuropathy symptoms scores (NSS) was used for PNP as the external validation criterion...
November 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27230413/kcc3-axonopathy-neuropathological-features-in-the-central-and-peripheral-nervous-system
#8
Roland N Auer, Janet L Laganière, Yves O Robitaille, John Richardson, Patrick A Dion, Guy A Rouleau, Masoud Shekarabi
Hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum (HMSN/ACC) is an autosomal recessive disease of the central and peripheral nervous system that presents as early-onset polyneuropathy. Patients are hypotonic and areflexic from birth, with abnormal facial features and atrophic muscles. Progressive peripheral neuropathy eventually confines them to a wheelchair in the second decade of life, and death occurs by the fourth decade. We here define the neuropathologic features of the disease in autopsy tissues from eight cases...
September 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/26937591/polymeric-prodrug-grafted-hollow-mesoporous-silica-nanoparticles-encapsulating-near-infrared-absorbing-dye-for-potent-combined-photothermal-chemotherapy
#9
Yuanyuan Zhang, Chung Yen Ang, Menghuan Li, Si Yu Tan, Qiuyu Qu, Yanli Zhao
In this study, polymeric prodrug coated hollow mesoporous silica nanoparticles (HMSNs) with encapsulated near-infrared (NIR) absorbing dye were prepared and explored for combined photothermal-chemotherapy. A copolymer integrated with tert-butoxycarbonyl protected hydrazide groups and oligoethylene glycols was initially grafted on the surface of HMSNs via reversible addition-fragmentation chain-transfer (RAFT) polymerization followed by the deprotection to reactivate the hydrazide groups for the conjugation of anticancer drug doxorubicin (DOX)...
March 23, 2016: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/26822750/hsmnr-belongs-to-the-most-frequent-types-of-hereditary-neuropathy-in-the-czech-republic-and-is-twice-more-frequent-than-hmsnl
#10
D Šafka Brožková, J Haberlová, R Mazanec, J Laštůvková, P Seeman
Hereditary motor and sensory neuropathy type Russe (HMSNR), also called CMT4G, is an autosomal recessive inherited peripheral neuropathy (IPN) caused by a founder mutation in the HK1 gene. HMSNR affects only patients with Roma origin, similar to the better known HMSN type Lom clarified earlier. By testing IPN patients with Roma origin, we realized that HMSNR affects surprisingly many patients in the Czech Republic. HMSNR is one of the most frequent types of IPN in this country and appears to be twice more frequent than HMSNL...
August 2016: Clinical Genetics
https://www.readbyqxmd.com/read/26581383/pathogenic-mutations-and-sequence-variants-within-mitofusin-2-gene-in-polish-patients-with-different-hereditary-motor-sensory-neuropathies
#11
Katarzyna Kotruchow, Dagmara Kabzińska, Andrzej Kochański
At the time of its first description in 2004, MFN2 was considered the most frequently mutated gene in hereditary motor and sensory neuropathy type 2 (HMSN 2). However recent studies have shown that the frequency of MFN2 gene mutations in HMSN II patients is surprisingly low. To date, no systematic studies devoted to HMSN IIa in Poland have been carried out. In this study, we searched for MFN2 gene mutations in Polish patients representing the population of nearly 40 million. We decided to include a wide spectrum of clinical phenotypes in the study, proving able to detect, in a group of 67 affected patients: 1) 3 pathogenic mutations; 2) 3 sequence variants of unknown pathogenic status; 3) 9 rare MFN2 gene sequence variants; 4) 6 common polymorphisms...
2015: Acta Neurobiologiae Experimentalis
https://www.readbyqxmd.com/read/26479344/analysis-of-pmp22-duplication-and-deletion-using-a-panel-of-six-dinucleotide-tandem-repeats
#12
Milica Gagic, Milica Keckarevic Markovic, Miljana Kecmanovic, Dusan Keckarevic, Jelena Mladenovic, Jelena Dackovic, Vedrana Milic-Rasic, Stanka Romac
BACKGROUND: Charcot-Marie-Tooth type 1A (CMT1A) is the most common type of hereditary motor and sensory neuropathies (HMSN), caused by the duplication of the 17p11.2 region that includes the PMP22 gene. Reciprocal deletion of the same region is the main cause of hereditary neuropathy with liability to pressure palsies (HNPP). CMT1A accounts for approximately 50% of HMSN patients. Diagnostics of CMT1A and HNPP are based on quantitative analysis of the affected region or RFLP detection of breakage points...
May 2016: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/26103812/-two-cases-of-hereditary-motor-and-sensory-neuropathy-with-proximal-dominant-involvement-hmsn-p
#13
Chiaki Mori, Tomoko Saito, Toshio Saito, Harutoshi Fujimura, Saburo Sakoda
We, herein, report two independent cases with hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) inherited in an autosomal dominant fashion. Their common clinical features are slowly progressive proximal dominant muscular atrophy, fasciculations and mild to moderate distal sensory disturbance with areflexia. Nerve conduction study revealed an absence of sensory nerve action potentials, in contrast to almost normal compound muscle action potentials. Gene analysis in both patients elucidated heterozygous mutation (c...
2015: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/26053813/first-reported-case-of-charcot-marie-tooth-disease-type-4c-in-a-child-from-india-with-sh3tc2-mutation-but-absent-spinal-deformities
#14
Umesh Dinkar Kalane, Chaitanya Datar, Anita Mahadevan
Charcot Marie Tooth (CMT) disease is a group of hereditary motor sensory neuropathies with significant genetic heterogeneity. This disorder has been scarcely reported in the Indian literature. Here, we report a case of the rare but relatively more severe autosomal recessive CMT type 4C disease with a few features that are distinct from its regular presentation. Our patient was proven to have one of the common mutations in the SH3TC2 gene, which has so far not been described in Indian patients.
May 2015: Neurology India
https://www.readbyqxmd.com/read/26019414/neurological-associations-in-auditory-neuropathy-spectrum-disorder-results-from-a-tertiary-hospital-in-south-india
#15
Anjali Lepcha, Reni K Chandran, Mathew Alexander, Ann Mary Agustine, K Thenmozhi, Achamma Balraj
AIMS: To find out the prevalence and types of neurological abnormalities associated in auditory neuropathy spectrum disorder in a large tertiary referral center. SETTINGS AND DESIGN: A prospective clinical study was conducted on all patients diagnosed with auditory neuropathy spectrum disorder in the ear, nose, and throat (ENT) and neurology departments during a 17-month period. Patients with neurological abnormalities on history and examination were further assessed by a neurologist to determine the type of disorder present...
April 2015: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/25957633/acute-optic-neuropathy-associated-with-a-novel-mfn2-mutation
#16
Luca Leonardi, Christian Marcotulli, Eugenia Storti, Alessandra Tessa, Mariano Serrao, Vincenzo Parisi, F M Santorelli, Francesco Pierelli, Carlo Casali
Mutations in the mitofusin 2 (MFN2) gene cause CMT2A the most common form of autosomal dominant axonal Charcot-Marie-Tooth (CMT). In addition, mutations in MFN2 have been shown to be responsible for Hereditary Motor Sensory Neuropathy type VI (HSMN VI), a rare early-onset axonal CMT associated with optic neuropathy. Most reports of HMSN VI presented with a sub-acute form of optic neuropathy. Herein, we report a CMT2A patient, who developed very rapidly progressing severe optic neuropathy. A 40-year-old Caucasian man was evaluated for gait disturbance and lower limbs weakness, slowly progressed over the last 2 years...
July 2015: Journal of Neurology
https://www.readbyqxmd.com/read/25955122/hollow-mesoporous-silica-nanoparticles-for-tumor-vasculature-targeting-and-pet-image-guided-drug-delivery
#17
Rubel Chakravarty, Shreya Goel, Hao Hong, Feng Chen, Hector F Valdovinos, Reinier Hernandez, Todd E Barnhart, Weibo Cai
AIM: Development of multifunctional and well-dispersed hollow mesoporous silica nanoparticles (HMSNs) for tumor vasculature targeted drug delivery and PET imaging. MATERIALS & METHODS: Amine functionalized HMSNs (150-250 nm) were conjugated with a macrocyclic chelator, (S)-2-(4-isothiocyanatobenzyl)-1,4,7-triazacyclononane-1,4,7-triaceticacid (NOTA), PEGylated and loaded with antiangiogenesis drug, Sunitinib. Cyclo(Arg-Gly-Asp-D-Tyr-Lys) (cRGDyK) peptide was attached to the nanoconjugate and radiolabeled with (64)Cu for PET imaging...
2015: Nanomedicine
https://www.readbyqxmd.com/read/25842560/charcot-marie-tooth-type-1a-disease-from-patient-to-laboratory
#18
REVIEW
Shazia Perveen, Shazia Mannan, Abrar Hussain, Sumaira Kanwal
Charcot-Marie-Tooth (CMT) disease is a well-known neural or spinal type of muscular atrophy. It is the most familiar disease within a group of conditions called Hereditary Motor and Sensory Neuropathies (HMSN). The disease was discovered by three scientists several years ago. Several genes are involved as the causative agents for the disease. Hundreds of causative mutations have been found and research work for the identification of a novel locus and for the treatment of CMT1A is going on. This review article was planned to gather information on CMT disease and updates on its treatment...
February 2015: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/25834425/single-peptide-ligand-functionalized-uniform-hollow-mesoporous-silica-nanoparticles-achieving-dual-targeting-drug-delivery-to-tumor-cells-and-angiogenic-blood-vessel-cells
#19
Yang Liu, Qing Chen, Ming Xu, Guannan Guan, Wen Hu, Ying Liang, Xiuli Zhao, Mingxi Qiao, Dawei Chen, Hao Liu
BACKGROUND: The purpose of this study was to construct hollow mesoporous silica nanoparticles (HMSN) decorated with tLyp-1 peptide (tHMSN) for dual-targeting drug delivery to tumor cells and angiogenic blood vessel cells. METHODS: HMSN were synthesized de novo using a novel cationic surfactant-assisted selective etching strategy and were then modified with tLyp-1. Multiple methods, including transmission electron microscopy, X-ray photoelectron spectroscopy, thermogravimetric analysis, bicinchoninic acid assay, and nitrogen adsorption and desorption isotherms, were used to characterize the tHMSN...
2015: International Journal of Nanomedicine
https://www.readbyqxmd.com/read/25725944/hmsn-p-caused-by-p-pro285leu-mutation-in-tfg-is-not-confined-to-patients-with-far-east-ancestry
#20
Afagh Alavi, Hosein Shamshiri, Shahriar Nafissi, Marzieh Khani, Brandy Klotzle, Jian-Bing Fan, Frank Steemers, Elahe Elahi
Hereditary motor and sensory neuropathy with proximal predominance (HMSN-P) is a rare disease so far identified only in individuals of Far East ancestry. Here, genome-wide linkage analysis and exome sequencing in an Iranian pedigree with 16 members affected with a neuromuscular disease led to identification of a mutation in TFG that causes p.Pro285Leu as cause of disease. The very same mutation was reported as cause of HMSN-P during the course of the study. Phenotypic analysis in conjunction with genetic data revealed that the Iranian patients were also affected with HMSN-P...
March 2015: Neurobiology of Aging
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