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https://www.readbyqxmd.com/read/28654681/abnormal-neurofilament-inclusions-and-segregations-in-dorsal-root-ganglia-of-a-charcot-marie-tooth-type-2e-mouse-model
#1
Jian Zhao, Kristy Brown, Ronald K H Liem
Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy is the most prevalent inherited peripheral neuropathy and is associated with over 90 causative genes. Mutations in neurofilament light polypeptide gene, NEFL cause CMT2E, an axonal form of CMT that results in abnormal structures and/or functions of peripheral axons in spinal cord motor neurons and dorsal root ganglion neurons. We have previously generated and characterized a knock-in mouse model of CMT2E with the N98S mutation in Nefl that presented with multiple inclusions in spinal cord neurons...
2017: PloS One
https://www.readbyqxmd.com/read/28654153/survivorship-and-the-chronic-cancer-patient-patterns-in-treatment-related-effects-follow-up-care-and-use-of-survivorship-care-plans
#2
Melissa A Frick, Carolyn C Vachani, Christina Bach, Margaret K Hampshire, Karen Arnold-Korzeniowski, James M Metz, Christine E Hill-Kayser
BACKGROUND: The survivorship needs of patients living with chronic cancer (CC) and their use of survivorship care plans (SCPs) have been overlooked and underappreciated. METHODS: A convenience sample of 39,088 SCPs completed for cancer survivors with an Internet-based SCP tool was examined; it included 5847 CC survivors (15%; CC was defined as chronic leukemia and/or recurrent/metastatic cancer of another nature). Patient-reported treatment effects and follow-up care patterns were compared between CC survivors and survivors treated with curative intent (CI)...
June 27, 2017: Cancer
https://www.readbyqxmd.com/read/28653815/factors-associated-with-the-development-and-severity-of-oxaliplatin-induced-peripheral-neuropathy-a-systematic-review
#3
REVIEW
Jeremy N Pulvers, Gavin Marx
Oxaliplatin is a platinum-derivative chemotherapeutic agent used for colorectal cancer in the adjuvant and metastatic setting in combination with folinic acid and 5-fluorouracil. Oxaliplatin causes an acute cold-induced neurotoxicity and a chronic cumulative neuropathy, which can require dose modification and impact quality of life. To date, no prevention and treatment strategies have proved effective thus reinforcing the importance of identifying at-risk patients in order to maximize therapeutic benefit while minimizing neurotoxicity...
June 27, 2017: Asia-Pacific Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28653766/extension-of-the-phenotype-of-biallelic-loss-of-function-mutations-in-slc25a46-to-the-severe-form-of-pontocerebellar-hypoplasia-type-i
#4
M C Braunisch, H Gallwitz, A Abicht, I Diebold, E Holinski-Feder, L Van Maldergem, M Lammens, R Kovács-Nagy, B Alhaddad, T M Strom, T Meitinger, J Senderek, S Rudnik-Schöneborn, T B Haack
Biallelic mutations in SLC25A46, encoding a modified solute transporter involved in mitochondrial dynamics, have been identified in a wide range of conditions such as hereditary motor and sensory neuropathy with optic atrophy type VIB (OMIM: *610826) and congenital lethal pontocerebellar hypoplasia (PCH). To date, 18 patients from 13 families have been reported, presenting with the key clinical features of optic atrophy, peripheral neuropathy, and cerebellar atrophy. The course of the disease was highly variable ranging from severe muscular hypotonia at birth and early death to first manifestations in late childhood and survival into the fifties...
June 27, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28652546/clinical-application-of-ghrelin-for-diabetic-peripheral-neuropathy
#5
Hiroaki Ueno, Tomomi Shiiya, Kazuhiro Nagamine, Wakaba Tsuchimochi, Hideyuki Sakoda, Kazutaka Shiomi, Kenji Kangawa, Masamitsu Nakazato
Diabetic peripheral neuropathy (DPN) is the most common complication of diabetes, and its progression significantly worsens the patient's quality of life. Although several drugs are available for DPN, all of these provide only symptomatic relief. We investigated the therapeutic effects of ghrelin for DPN, based on its various physiological functions. Seven patients with type 2 diabetes with typical clinical signs and symptoms of DPN were hospitalized. Synthetic human ghrelin (1.0 μg/kg) was administered intravenously for 14 days...
2017: Endocrine Journal
https://www.readbyqxmd.com/read/28652523/a-case-of-hereditary-neuropathy-with-liability-to-pressure-palsies-due-to-push-up-exercise
#6
Takumi Nakamura, Takeshi Kawarabayashi, Yusuke Seino, Mikio Shoji
A 17-year-old man with no familial history developed motor and sensory disturbance of the left upper limb a few days after starting push-up exercise. Neurological examination revealed broad weakness and radial sensory disturbance of the left upper limb and magnetic resonance neurography showed laterality of brachial plexus intensity signals. Therefore, we suspected left brachial plexopathy. However, a nerve conduction study showed a broad disturbance that could not be explained by only brachial plexopathy. Genetic tests revealed a diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP)...
June 24, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28652416/mitochondrial-membrane-dynamics-and-inherited-optic-neuropathies
#7
REVIEW
Eleni Bagli, Anastasia K Zikou, Niki Agnantis, Georgios Kitsos
Inherited optic neuropathies are a genetically diverse group of disorders mainly characterized by visual loss and optic atrophy. Since the first recognition of Leber's hereditary optic neuropathy, several genetic defects altering primary mitochondrial respiration have been proposed to contribute to the development of syndromic and non-syndromic optic neuropathies. Moreover, the genomics and imaging revolution in the past decade has increased diagnostic efficiency and accuracy, allowing recognition of a link between mitochondrial dynamics machinery and a broad range of inherited neurodegenerative diseases involving the optic nerve...
July 2017: In Vivo
https://www.readbyqxmd.com/read/28652279/pregabalin-for-the-prevention-of-oxaliplatin-induced-painful-neuropathy-a-randomized-double-blind-trial
#8
Daniel Ciampi de Andrade, Manoel Jacobsen Teixeira, Ricardo Galhardoni, Karine S L Ferreira, Paula Braz Mileno, Nathalia Scisci, Alexandra Zandonai, William G J Teixeira, Daniel F Saragiotto, Valquíria Silva, Irina Raicher, Rubens Gisbert Cury, Ricardo Macarenco, Carlos Otto Heise, Mario Wilson Iervolino Brotto, Alberto Andrade de Mello, Marcelo Zini Megale, Luiz Henrique Curti Dourado, Luciana Mendes Bahia, Antonia Lilian Rodrigues, Daniella Parravano, Julia Tizue Fukushima, Jean-Pascal Lefaucheur, Didier Bouhassira, Evandro Sobroza, Rachel P Richelmann, Paulo M Hoff, Fernanda Valério da Silva, Thais Chile, Camila S Dale, Daniela Nebuloni, Luiz Senna, Helena Brentani, Rosana L Pagano, Ângela M de Souza
LESSONS LEARNED: Pregabalin is a medication that can decrease neuronal hyperexcitability, relieve neuropathic pain, and reach stable plasma levels after a titration period of only a few days.Its use during oxaliplatin infusions was not able to decrease the incidence of chronic, oxalipaltin-related neuropathic pain, compared with placebo. BACKGROUND: Patients with colorectal cancer (CRC) receiving oxaliplatin (OXA) develop acute and chronic painful oxaliplatin-induced peripheral neuropathy (OXAIPN)...
June 26, 2017: Oncologist
https://www.readbyqxmd.com/read/28651619/analgesic-effects-of-a-hydro-ethanolic-whole-plant-extract-of-synedrella-nodiflora-l-gaertn-in-paclitaxel-induced-neuropathic-pain-in-rats
#9
Patrick Amoateng, Samuel Adjei, Dorcas Osei-Safo, Kennedy Kwami Edem Kukuia, Irene Akwo Kretchy, Joseph Adusei Sarkodie, Benoit Banga N'Guessan
BACKGROUND: Synedrella nodiflora is used by traditional healers in Ghana for the management of epilepsy and pain. The hydro-ethanolic extract of the whole plant has demonstrated antinociceptive effect in various animal models of pain. This study investigated the potential benefit of the hydro-ethanolic extract in a rat model of paclitaxel-induced neuropathic pain. METHODS: Neuropathy was induced in rats by a continuous intraperitoneal administration of paclitaxel (2 mg/kg) for 5 days...
June 26, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28650878/leber-hereditary-optic-neuropathy-bridging-the-translational-gap
#10
Neringa Jurkute, Patrick Yu-Wai-Man
PURPOSE OF REVIEW: Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial DNA (mtDNA) genetic disorder in the population. We address the clinical evolution of the disease, the secondary etiological factors that could contribute to visual loss, and the challenging task of developing effective treatments. RECENT FINDINGS: LHON is characterized by a preclinical phase that reflects retinal ganglion cell (RGC) dysfunction before rapid visual deterioration ensues...
June 24, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28649767/the-use-of-antioxidant-agents-for-chemotherapy-induced-peripheral-neuropathy-treatment-in-animal-models
#11
REVIEW
Larissa Feitosa Carvalho, Ana Maria Fantini Silva, Adriana Andrade Carvalho
Antineoplastic drugs such as Cisplatin, Oxaliplatin, Paclitaxel and Vincristin are widely used in the treatment for several both solid and blood tumours. However, the severity of peripheral neuropathy caused by these agents can affect the patient's quality of life. The major symptoms of Chemotherapy-Induced Peripheral Neuropathy (CIPN) involve: sensory loss, paresthesia, dysesthaesia, numbness, tingling, temperature sensitivity, allodynia and hyperalgesia, in a "stocking and glove" distribution. Why many different chemotherapeutic agents result in similar neuropathy profiles is unclear...
June 26, 2017: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/28649285/introduction-of-the-diagene-study-clinical-characteristics-pathophysiology-and-determinants-of-vascular-complications-of-type-2-diabetes
#12
Thijs T W van Herpt, Roosmarijn F H Lemmers, Mandy van Hoek, Janneke G Langendonk, Ronald J Erdtsieck, Bert Bravenboer, Annelies Lucas, Monique T Mulder, Harm R Haak, Aloysius G Lieverse, Eric J G Sijbrands
BACKGROUND: Type 2 diabetes is a major healthcare problem. Glucose-, lipid-, and blood pressure-lowering strategies decrease the risk of micro- and macrovascular complications. However, a substantial residual risk remains. To unravel the etiology of type 2 diabetes and its complications, large-scale, well-phenotyped studies with prospective follow-up are needed. This is the goal of the DiaGene study. In this manuscript, we describe the design and baseline characteristics of the study...
2017: Diabetology & Metabolic Syndrome
https://www.readbyqxmd.com/read/28648835/effect-of-glp-1-receptor-agonist-on-gastrointestinal-tract-motility-and-residue-rates-as-evaluated-by-capsule-endoscopy
#13
Y Nakatani, M Maeda, M Matsumura, R Shimizu, N Banba, Y Aso, T Yasu, H Harasawa
AIM: This study evaluated the effects of a glucagon-like peptide-1 receptor agonist on gastrointestinal (GI) tract motility and residue rates by examining GI transit time and lumen using capsule endoscopy. MATERIAL AND METHODS: GI motility and lumen were assessed by capsule endoscopy before and after liraglutide administration in 14 patients with type 2 diabetes mellitus (T2DM). RESULTS: Gastric transit time in the group with diabetic neuropathy (DN) was 1:12:36±1:04:30h before liraglutide administration and 0:48:40±0:32:52h after administration (nonsignificant difference, P=0...
June 22, 2017: Diabetes & Metabolism
https://www.readbyqxmd.com/read/28648011/-relationship-between-carotid-plaque-and-diabetic-retinopathy-in-type-2-diabetes-mellitus-patients
#14
Y Y Xiao, M K Yuan, P Xi, B Gao
Objective: To analyze the relevant factors for diabetic retinopathy. Methods: The data of type 2 diabetes mellitus patients undergoing general examination and ophthalmology specialist consultation were collected from the inpatients of Department of Endocrinology in Beijing Airport Hospital between 2013 and 2016, and the relevant factors of diabetic retinopathy were retrospectively analyzed. Results: A total of 432 cases were analyzed, including 168 cases of non-diabetic retinopathy and 264 cases of diabetic retinopathy...
June 27, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28647892/postprandial-hypotension-in-neurological-disorders-systematic-review-and-meta-analysis
#15
REVIEW
Antun Pavelić, Magdalena Krbot Skorić, Luka Crnošija, Mario Habek
PURPOSE: Postprandial hypotension (PPH) has been associated with increased risk of syncope, falls, stroke, angina and mortality. As the majority of patients with PPH are asymptomatic, the diagnosis is often overlooked. The aim of this study was to perform a systematic review and meta-analysis of available scientific evidence on the likelihood of PPH in neurological diseases. METHODS: A systematic review of the literature (PubMed library, Cochrane Database for Systematic Reviews and Cochrane Central Register of Controlled Trials for results up to January 2017) identified 327 studies, of which 11 reported the frequency of PPH in patients with neurological diseases compared to healthy controls...
June 24, 2017: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/28647749/expression-of-high-mobility-group-box-1-protein-hmgb1-and-toll-like-receptor-9-tlr9-in-retinas-of-diabetic-rats
#16
Shuang Jiang, Xiaolong Chen
BACKGROUND Diabetic retinopathy (DR) and diabetic optic neuropathy are important complications of diabetes mellitus (DM) which can lead to blindness in diabetic patients. Recent studies showed that chronic low-grade inflammation is thought to be one of the important pathophysiological mechanisms in the occurrence and development of DR and diabetes optic neuropathy. This study explored the expressions of inflammatory factors HMGB-1 and TLR9. MATERIAL AND METHODS SD rats were randomly divided into a diabetic mellitus group and a control group...
June 25, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28647557/kcc3-loss-of-function-contributes-to-andermann-syndrome-by-inducing-activity-dependent-neuromuscular-junction-defects
#17
Melissa Bowerman, Céline Salsac, Véronique Bernard, Claire Soulard, Annie Dionne, Emmanuelle Coque, Salim Benlefki, Pascale Hince, Patrick A Dion, Gillian Butler-Browne, William Camu, Jean-Pierre Bouchard, Eric Delpire, Guy A Rouleau, Cédric Raoul, Frédérique Scamps
Loss-of-function mutations in the potassium-chloride cotransporter KCC3 lead to Andermann syndrome, a severe sensorimotor neuropathy characterized by areflexia, amyotrophy and locomotor abnormalities. The molecular events responsible for axonal loss remain poorly understood. Here, we establish that global or neuron-specific KCC3 loss-of-function in mice leads to early neuromuscular junction (NMJ) abnormalities and muscular atrophy that are consistent with the pre-synaptic neurotransmission defects observed in patients...
June 21, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28647203/gene-therapy-for-leber-hereditary-optic-neuropathy-low-and-medium-dose-visual-results
#18
John Guy, William J Feuer, Janet L Davis, Vittorio Porciatti, Phillip J Gonzalez, Rajeshwari D Koilkonda, Huijun Yuan, William W Hauswirth, Byron L Lam
PURPOSE: To determine the effects of AAV2(Y444,500,730F)-P1ND4v2 in patients with Leber hereditary optic neuropathy (LHON). DESIGN: Prospective open-label, unilateral single-dose, intravitreal injection of AAV2(Y444,500,730F)-P1ND4v2 per participant. PARTICIPANTS: Fourteen patients with visual loss and mutated G11778A mitochondrial DNA. METHODS: Intravitreal injection with the gene therapy vector AAV2(Y444,500,730F)-P1ND4v2 into 1 eye...
June 21, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28646568/blink-r1-latency-utility-in-diagnosis-and-treatment-assessment-of-poems-and-cidp
#19
Wei Wang, William J Litchy, Michelle L Mauermann, P James B Dyck, Angela Dispenzieri, Jay Mandrekar, Peter J Dyck, Christopher J Klein
INTRODUCTION: In POEMS and CIDP, limb nerve conduction studies (NCS) are limited in identifying demyelination and detecting treatment effects in severely affected patients. Blink R1-latency may improve these assessments. METHODS: POEMS and CIDP patients having undergone NCS and blink reflex were identified. Correlations between R1-latency, limb NCS and neuropathy impairment scores (NIS) were compared. RESULTS: With182 patients (124 POEMS, 58 CIDP) identified, R1-prolongation (>13ms) occurred in 64...
June 23, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28646538/a-novel-attr-l32v-mutation-causes-familial-amyloid-polyneuropathy-in-a-bolivian-family
#20
P L Martínez-Ulloa, M Vallejo, I Corral, N García-Barragán, A Alcazar, Emma Martínez-Alonso, J Martínez-Poles, H Pian, A Jiménez-Escrig
We report a new transthyretin (ATTR) gene c.272C>G mutation and variant protein, p.Leu32Val, in a kindred of Bolivian origin with a rapid progressive peripheral neuropathy and cardiomyopathy. Three individuals from a kindred with peripheral nerve and cardiac amyloidosis were examined. Analysis of the TTR gene was performed by Sanger direct sequencing. Neuropathologic examination was obtained on the index patient with mass spectrometry study of the ATTR deposition. Direct DNA sequence analysis of exons 2, 3 and 4 of the TTR gene demonstrated a c...
June 24, 2017: Journal of the Peripheral Nervous System: JPNS
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