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https://www.readbyqxmd.com/read/29626178/unique-clinical-and-neurophysiologic-profile-of-a-cohort-of-children-with-cmtx3
#1
Manoj Kanhangad, Kayla Cornett, Megan H Brewer, Garth A Nicholson, Monique M Ryan, Robert L Smith, Gopinath M Subramanian, Helen K Young, Stephan Züchner, Marina L Kennerson, Joshua Burns, Manoj P Menezes
OBJECTIVE: To describe in detail the clinical profile of Charcot-Marie-Tooth disease subtype 3 (CMTX3) to aid appropriate genetic testing and rehabilitative therapy. METHODS: We reviewed the clinical and neurophysiologic profile and CMT Pediatric Scale (CMTPedS) assessments of 11 children with CMTX3. RESULTS: Compared with the more common forms of CMT, CMT1A and CMTX, CMTX3 was characterized by early onset with early and progressive hand weakness...
April 6, 2018: Neurology
https://www.readbyqxmd.com/read/29564662/can-optical-coherence-tomography-be-used-to-guide-treatment-decisions-in-adult-or-pediatric-multiple-sclerosis
#2
REVIEW
Jeffrey Lambe, Olwen C Murphy, Shiv Saidha
PURPOSE OF REVIEW: With the recognition that neurodegeneration represents the principal substrate of disability in multiple sclerosis (MS), there has been increased strives towards identifying biomarkers for accurately quantifying and tracking neurodegeneration during the disease course. The retina provides an opportune "window" into the central nervous system (CNS) in MS, with retinal changes in MS reflecting not only local, but also global aspects of neurodegeneration and inflammation operative in the disease...
March 21, 2018: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/29508159/a-stimulus-responsive-in-situ-forming-nanoparticle-laden-hydrogel-for-ocular-drug-delivery
#3
Maryam Kabiri, Syed H Kamal, Sandip V Pawar, Protiva R Roy, Maziar Derakhshandeh, Ujendra Kumar, Savvas G Hatzikiriakos, Sazzad Hossain, Vikramaditya G Yadav
Most medications targeting optic neuropathies are administered as eye drops. However, their corneal penetration efficiencies are typically < 5%. There is a clear, unmet need for novel transcorneal drug delivery vehicles. To this end, we have developed a stimulus-responsive, in situ-forming, nanoparticle-laden hydrogel for controlled release of poorly bioavailable drugs into the aqueous humor of the eye. The hydrogel is formulated as a composite of hyaluronic acid (HA) and methylcellulose (MC). The amphiphilic nanoparticles are composed of poly(ethylene oxide) (PEO) and poly(lactic acid) (PLA)...
March 5, 2018: Drug Delivery and Translational Research
https://www.readbyqxmd.com/read/29481608/the-role-of-mitochondrial-dna-variation-in-age-related-decline-in-gait-speed-among-older-men-living-with-hiv
#4
Jing Sun, Todd T Brown, David C Samuels, Todd Hulgan, Gypsyamber D'Souza, Beth D Jamieson, Kristine M Erlandson, Jeremy Martinson, Frank J Palella, Joseph B Margolick, Gregory D Kirk, Jennifer A Schrack
Background: Age-related gait speed decline is accelerated in men with HIV. Mitochondrial genetic variation is associated with frailty and mortality in the general population, and may provide insight into mechanisms of functional decline in people aging with HIV. Material & Methods: Gait speed was assessed semi-annually in the Multicenter AIDS Cohort Study (MACS). Mitochondrial DNA (mtDNA) haplogroups were extracted from genome-wide genotyping data, classifying men ≥ 50 years into 5 groups: mtDNA haplogroup H, J, T, Uk, and other...
February 22, 2018: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29449460/pfn2-and-gamt-as-common-molecular-determinants-of-axonal-charcot-marie-tooth-disease
#5
Manisha Juneja, Abdelkrim Azmi, Jonathan Baets, Andreas Roos, Matthew J Jennings, Paola Saveri, Chiara Pisciotta, Nathalie Bernard-Marissal, Bernard L Schneider, Catherine Verfaillie, Roman Chrast, Pavel Seeman, Angelika F Hahn, Peter de Jonghe, Stuart Maudsley, Rita Horvath, Davide Pareyson, Vincent Timmerman
BACKGROUND: Charcot-Marie-Tooth type 2 (CMT2) neuropathy is characterised by a vast clinical and genetic heterogeneity complicating its diagnosis and therapeutic intervention. Identification of molecular signatures that are common to multiple CMT2 subtypes can aid in developing therapeutic strategies and measuring disease outcomes. METHODS: A proteomics-based approach was performed on lymphoblasts from CMT2 patients genetically diagnosed with different gene mutations to identify differentially regulated proteins...
February 15, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29408540/approach-to-peripheral-neuropathy-for-the-primary-care-clinician
#6
REVIEW
Christopher T Doughty, Reza Sadjadi
Peripheral neuropathy is commonly encountered in the primary care setting and is associated with significant morbidity, including neuropathic pain, falls, and disability. The clinical presentation of neuropathy is diverse, with possible symptoms including weakness, sensory abnormalities, and autonomic dysfunction. Accordingly, the primary care clinician must be comfortable using the neurologic examination-including assessment of motor function, multiple sensory modalities, and the deep tendon reflexes-to recognize and characterize neuropathy...
February 1, 2018: American Journal of Medicine
https://www.readbyqxmd.com/read/29397266/diffusion-tensor-imaging-of-the-ankle-as-a-possible-predictor-of-chemotherapy-induced-peripheral-neuropathy-pilot-study
#7
Lana Hirai Gimber, Linda Garland, Elizabeth A Krupinski, Tyson S Chadaz, Michael Schwenk, Bijan Najafi, Mihra S Taljanovic
PURPOSE: Chemotherapy induced peripheral neuropathy (CIPN) is seen in up to 75% of treated cancer patients and can drastically limit their medical management and affect quality of life. Clinical and electrodiagnostic testing for CIPN have many pitfalls. Magnetic resonance neurography (MRN) is being increasingly used in the evaluation of peripheral nerves. Diffusion tensor imaging (DTI) shows promise in the workup of peripheral nerves. In this prospective pilot study, we investigated a possible relationship between DTI and peripheral neuropathy of the ankle and foot in cancer patients treated with chemotherapy...
January 6, 2018: Current Problems in Diagnostic Radiology
https://www.readbyqxmd.com/read/29339963/infiltrative-optic-neuropathies-opening-doors-to-sinister-pathologies
#8
Aastha Takkar, Darakshan Naheed, Mohit Dogra, Manoj K Goyal, Ramandeep Singh, Nalini Gupta, Kirti Gupta, B R Mittal, Vivek Lal
Optic disc edema may be caused by a number of conditions. A commonly ignored but important aspect is the presence of "infiltration" of disc; that may closely mimic disc edema. Disc edema, optic nerve dysfunction and a normal appearing disc in any combination may occur in infiltrative optic neuropathies. Identifying disc infiltration can aid in diagnosis of many sinister pathologies even in the absence of other specific clinical features. We describe two patients presenting with optic nerve dysfunction and infiltrated disc appearance, which on investigations were found to have underlying malignancies thereby underscoring the importance of detecting infiltrative optic neurpathies...
October 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/29305691/the-capos-mutation-in-atp1a3-alters-na-k-atpase-function-and-results-in-auditory-neuropathy-which-has-implications-for-management
#9
Lisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, Nanna D Rendtorff, Hanne Poulsen, Himanshu Khandelia, Wojciech Kopec, Troels J Brünnich Lyngbye, Christian Hamel, Cecile Delettre, Beatrice Bocquet, Michael Bille, Hanne H Owen, Toke Bek, Hanne Jensen, Karen Østergaard, Claes Möller, Linda Luxon, Lucinda Carr, Louise Wilson, Kaukab Rajput, Tony Sirimanna, Katherine Harrop-Griffiths, Shamima Rahman, Barbara Vona, Julia Doll, Thomas Haaf, Oliver Bartsch, Hendrik Rosewich, Tobias Moser, Maria Bitner-Glindzicz
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing impairment (CAPOS) is a rare clinically distinct syndrome caused by a single dominant missense mutation, c.2452G>A, p.Glu818Lys, in ATP1A3, encoding the neuron-specific alpha subunit of the Na+/K+-ATPase α3. Allelic mutations cause the neurological diseases rapid dystonia Parkinsonism and alternating hemiplegia of childhood, disorders which do not encompass hearing or visual impairment. We present detailed clinical phenotypic information in 18 genetically confirmed patients from 11 families (10 previously unreported) from Denmark, Sweden, UK and Germany indicating a specific type of hearing impairment-auditory neuropathy (AN)...
February 2018: Human Genetics
https://www.readbyqxmd.com/read/29280762/brentuximab-vedotin-with-avd-shows-safety-in-the-absence-of-strong-cyp3a4-inhibitors-in-newly-diagnosed-hiv-associated-hodgkin-lymphoma
#10
Paul G Rubinstein, Page C Moore, Michelle A Rudek, David H Henry, Juan C Ramos, Lee Ratner, Erin Reid, Elad Sharon, Ariela Noy
OBJECTIVE: Brentuximab vedotin is a Food and Drug Administration approved anti-CD30 antibody drug conjugate potently active in Hodgkin lymphoma. Trials of brentuximab vedotin with doxorubicin, vinblastine, and dacarbazine (AVD-BV) excluded patients with HIV. We studied the safety of AVD-BV in newly diagnosed HIV-associated classical Hodgkin lymphoma . DESIGN AND METHODS: Patients diagnosed with stage II-IV HIV-associated classical Hodgkin lymphoma received AVD-BV on days 1 and 15 every 28 days for six cycles...
March 13, 2018: AIDS
https://www.readbyqxmd.com/read/29239897/ex-vivo-expression-of-chemokine-receptors-on-cells-surrounding-cutaneous-nerves-in-patients-with-hiv-associated-sensory-neuropathy
#11
Jenjira Mountford, Fitri Octaviana, Riwanti Estiasari, Denise Dewanto Setiawan, Ibnu Ariyanto, Silvia Lee, Jessica Gaff, Constance Chew, Connie Jackaman, Peter Kamerman, Catherine Cherry, Patricia Price
OBJECTIVE: HIV-associated sensory neuropathy (HIV-SN) remains common in HIV+ individuals receiving antiretroviral therapy (ART), even though neurotoxic antiretroviral drugs (e.g. stavudine) have been phased out of use. Accumulating evidence indicates that the neuropathy is immune-mediated. We hypothesize that chemokines produced locally in the skin promote migration of macrophages and T cells into the tissue, damaging cutaneous nerves causing HIV-SN. DESIGN: We assessed chemokine receptor expression on infiltrating CD14 and CD3 cells around cutaneous nerves in standardized skin biopsies from HIV-SN+ patients (n = 5), HIV-SN- patients (n = 9) and healthy controls (n = 4)...
February 20, 2018: AIDS
https://www.readbyqxmd.com/read/29234979/neuroprotective-effects-of-moringa-oleifera-bio-guided-gc-ms-identification-of-active-compounds-in-diabetic-neuropathic-pain-model
#12
Karim Raafat, Fadi Hdaib
OBJECTIVES: To explore the phytotherapeutic-activities of Moringa oleifera (MO) seeds on painful diabetic neuropathy in alloxan-induced diabetic mice. METHODS: The bio-guided fractionation of MO utilizing column chromatography aided with GC-MS was used to detect the most active constituent of MO. Hyperalgesia, using tail-flick and hot-plate latency experiments, and mechanical-allodynia, utilizing von-Frey filaments, were evaluated before and after 8 weeks of intraperitoneal alloxan administration (180 mg/kg)...
December 12, 2017: Chinese Journal of Integrative Medicine
https://www.readbyqxmd.com/read/29212862/ataxia-with-oculomotor-apraxia-type-2-an-evolving-axonal-neuropathy
#13
Tahira N Choudry, David Hilton-Jones, Graham Lennox, Henry Houlden
A 23-year-old woman had presented initially to a podiatrist complaining of poorly fitting shoes during her adolescence. After extensive neurological review, she was diagnosed with ataxia with oculomotor apraxia type 2. This is a progressive autosomal recessive ataxia associated with cerebellar atrophy, peripheral neuropathy and an elevated serum α-fetoprotein. Within Europe, it is the most frequent autosomal recessive ataxia after Friedreich's ataxia and is due to mutations in the senataxin ( SETX ) gene. The age of onset is approximately 15 years...
February 2018: Practical Neurology
https://www.readbyqxmd.com/read/29196315/phosphorylated-ccaat-enhancer-binding-protein-%C3%AE-contributes-to-rat-hiv-related-neuropathic-pain-in-vitro-and-in-vivo-studies
#14
Hyun Yi, Shue Liu, Yuta Kashiwagi, Daigo Ikegami, Wan Huang, Hirotsugu Kanda, Takafumi Iida, Ching-Hang Liu, Keiya Takahashi, David A Lubarsky, Shuanglin Hao
Chronic pain is increasingly recognized as an important comorbidity of HIV-infected patients, however, the exact molecular mechanisms of HIV-related pain are still elusive. CCAAT/enhancer binding proteins (C/EBPs) are expressed in various tissues, including the CNS. C/EBPβ, one of the C/EBPs, is involved in the progression of HIV/AIDS, but the exact role of C/EBPβ and its upstream factors are not clear in HIV pain state. Here, we used a neuropathic pain model of perineural HIV envelope glycoprotein gp120 application onto the rat sciatic nerve to test the role of phosphorylated C/EBPβ (pC/EBPβ) and its upstream pathway in the spinal cord dorsal horn (SCDH)...
January 17, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29183354/motives-for-change-of-first-line-antiretroviral-therapy-regimens-in-an-unselected-cohort-of-hiv-aids-patients-at-a-major-referral-centre-in-south-west-cameroon
#15
Christian Akem Dimala, Ndemazie Nkafu Bechem, Desmond Aroke, Benjamin Momo Kadia
OBJECTIVE: The rapid scale-up of antiretroviral therapy (ART) coverage in sub-Saharan Africa has encountered the challenge of maintaining international clinical standards of ART utilization and change of ART regimens. In Cameroon, scarce reports have documented the motives for change of ART. This study had as objective to investigate the reasons for switch in ART through a secondary analysis and descriptive synthesis of data from a cross-sectional study at the Limbe Regional Hospital...
November 28, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29183014/mechanosensitivity-of-embryonic-neurites-promotes-their-directional-extension-and-schwann-cells-progenitors-migration
#16
Gonzalo Rosso, Peter Young, Victor Shahin
BACKGROUND/AIMS: Migration of Schwann cells (SCs) progenitors and neurite outgrowth from embryonic dorsal root ganglions (DRGs) are two central events during the development of the peripheral nervous system (PNS). How these two enthralling events preceding myelination are promoted is of great relevance from basic research and clinical aspects alike. Recent evidence demonstrates that biophysical cues (extracellular matrix stiffness) and biochemical signaling act in concert to regulate PNS myelination...
2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29176367/rare-nav1-7-variants-associated-with-painful-diabetic-peripheral-neuropathy
#17
Iulia Blesneac, Andreas C Themistocleous, Carl Fratter, Linus J Conrad, Juan D Ramirez, James J Cox, Solomon Tesfaye, Pallai R Shillo, Andrew S C Rice, Stephen J Tucker, David L H Bennett
Diabetic peripheral neuropathy (DPN) is a common disabling complication of diabetes. Almost half of the patients with DPN develop neuropathic pain (NeuP) for which current analgesic treatments are inadequate. Understanding the role of genetic variability in the development of painful DPN is needed for improved understanding of pain pathogenesis for better patient stratification in clinical trials and to target therapy more appropriately. Here, we examined the relationship between variants in the voltage-gated sodium channel NaV1...
March 2018: Pain
https://www.readbyqxmd.com/read/29125108/lipoic-acid-combined-with-epalrestat-versus-lipoic-acid-in-treating-diabetic-peripheral-neuropathy-a-meta-analysis
#18
Xiao-Tong Wang, Hai-Xiong Lin, Shu-Ai Xu, Ying-Kun Lu
Objective To compare the clinical effectiveness of lipoic acid combined with epalrestat versus lipoic acid in treating diabetic peripheral neuropathy(DPN). Methods Randomized controlled trials(RCTs) and clinical controlled trials on lipoic acid versus epalrestat for DPN before February 2016 were searched through five databases:CNKI,CBM,VIP,Wanfang,and PubMed. The quality of the included trials were assessed using Cochrane software and Jadad scores. Data were analyzed with Review Manager 5.3 software. Results Nine studies were included in the analysis...
October 30, 2017: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
https://www.readbyqxmd.com/read/29121540/computer-aided-diagnosis-of-diabetic-foot-using-infrared-thermography-a-review
#19
Muhammad Adam, Eddie Y K Ng, Jen Hong Tan, Marabelle L Heng, Jasper W K Tong, U Rajendra Acharya
Diabetes mellitus (DM) is a chronic metabolic disorder that requires regular medical care to prevent severe complications. The elevated blood glucose level affects the eyes, blood vessels, nerves, heart, and kidneys after the onset. The affected blood vessels (usually due to atherosclerosis) may lead to insufficient blood circulation particularly in the lower extremities and nerve damage (neuropathy), which can result in serious foot complications. Hence, an early detection and treatment can prevent foot complications such as ulcerations and amputations...
December 1, 2017: Computers in Biology and Medicine
https://www.readbyqxmd.com/read/29062325/demographic-and-epidemiological-characteristics-of-hiv-opportunistic-infections-among-older-adults-in-nigeria
#20
Joshua O Akinyemi, Babatunde O Ogunbosi, Adetona S Fayemiwo, Olubukola A Adesina, Michael Obaro, Modupe A Kuti, Olutosin A Awolude, David O Olaleye, Isaac F Adewole
BACKGROUND: In view of the maturing HIV epidemic in sub-Saharan Africa, better understanding of its epidemiology among older adults is necessary in order to design appropriate care and treatment programmes for them. OBJECTIVES: To describe the demographic and epidemiological characteristics of HIV opportunistic infections among newly enrolled patients aged 50 years and above in Ibadan, South-West Nigeria. METHODS: Analysis of data extracted from electronic records of 17, 312 subjects enrolled for HIV/AIDS care and treatment between January 2006 and December 2014 at the ART clinic, University College Hospital, Ibadan...
June 2017: African Health Sciences
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