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https://www.readbyqxmd.com/read/28333852/re-intervention-in-de-novo-vitreous-opacities-after-pars-plana-vitrectomy-in-familial-amyloidotic-polyneuropathy-ttr-val30metportuguese-patients
#1
Natália Novais Ferreira, David Afonso Cunha Dias, Rui Pedro Afonso Carvalho, Maria Teresa Pardal Monteiro Coelho
PURPOSE: To report management of de novo vitreous amyloid opacities after previous pars plana vitrectomy in familial amyloidotic polyneuropathy transthyretin Val30Met. METHODS: This work is a retrospective observational consecutive case series of five eyes of four patients. Demographic data, transthyretin mutation involved, age at the beginning of disease, duration of disease, treatment (liver transplant or tafamidis), time between vitrectomy and re-intervention, and ophthalmologic changes were evaluated...
March 22, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28332470/adult-onset-demyelinating-neuropathy-associated-with-fbln5-gene-mutation
#2
Si Cheng, He Lv, Wei Zhang, Zhaoxia Wang, Xin Shi, Wei Liang, Yun Yuan
Rare forms of autosomal-dominant Charcot-Marie-Tooth disease (AD-CMT) may be associated with mutations in Fibulin-5 (FBLN5) as AD-CMT is genetically heterogeneous. Here, we report the first pathological study of an Asian family. The proband was a 46-year-old man with slowly progressive distal numbness and weakness for 12 years. He had a history of diabetes mellitus for 12 years. His mother was 81 years old and had mild polyneuropathy. His 16-year-old daughter was asymptomatic. The nerve conduction velocities (NCVs) and compound muscular action potential (CMAP) amplitudes were moderately to severely reduced in the proband, and moderately reduced in his daughter and mother...
March 23, 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/28327574/from-older-to-younger-intergenerational-promotion-of-health-behaviours-in-portuguese-families-affected-by-familial-amyloid-polyneuropathy
#3
Carla Roma Oliveira, Alvaro Mendes, Liliana Sousa
The role of older generations in families with hereditary diseases has been recognised and associated to their function as guardians of the family's medical history. However, research is scarce in examining the roles that older generations play in terms of health promotion and risk management towards younger generations, which is particularly evident with incurable genetically inherited disorders such as familial amyloid polyneuropathy (FAP) ATTR Val30Met. This qualitative exploratory study examines the roles that older generations play towards younger generations, in terms of health promotion and risk management, in families with FAP...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28320357/outcome-of-neurological-early-rehabilitation-patients-carrying-multi-drug-resistant-bacteria-results-from-a-german-multi-center-study
#4
J D Rollnik, M Bertram, C Bucka, M Hartwich, M Jöbges, G Ketter, B Leineweber, M Mertl-Rötzer, D A Nowak, T Platz, K Scheidtmann, R Thomas, F von Rosen, C W Wallesch, H Woldag, P Peschel, J Mehrholz, M Pohl
BACKGROUND: Colonization or infection with multi-drug resistant (MDR) bacteria is considered detrimental to the outcome of neurological and neurosurgical early rehabilitation patients. METHODS: In a German multi-center study, 754 neurological early rehabilitation patients were enrolled and and reviewed in respect to MDR status, length of stay (LOS) and the following outcome variables: Barthel Index (BI), Early Rehabilitation Index (ERI), Glasgow Outcome Score Extended (GOSE), Coma Remission Scale (CRS), Functional Ambulation Categories (FAC)...
March 20, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28318820/sarcoidosis-associated-small-fiber-neuropathy-in-a-large-cohort-clinical-aspects-and-response-to-ivig-and-anti-tnf-alpha-treatment
#5
Jinny O Tavee, Karen Karwa, Zubair Ahmed, Nicolas Thompson, Joseph Parambil, Daniel A Culver
OBJECTIVE: Small fiber neuropathy commonly affects patients with sarcoidosis and is often refractory to standard immunosuppressive therapies used for systemic disease. The clinical features of sarcoidosis-associated small fiber neuropathy (SSFN) and its response to medical therapy have not been described in a large population. METHODS: We performed a retrospective review of patients with SSFN seen at the Cleveland Clinic over a 4-year period. RESULTS: SSFN was identified in 143 individuals although other causes of neuropathy were found in 28 cases...
March 9, 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/28301890/kasuistik-late-onset-small-fiber-neuropathie-nach-kritischer-erkrankung
#6
Susanne Koch, Rabih Moshourab, Tobias Wollersheim, Claudia Spies, Thomas Fritzsche, Steffen Weber-Carstens
A 42-year-old patient presented with acute allodynia and hyperalgesia in her distal limbs, most severe in the innervation area of the ulnar nerve. The patient developed critical illness myopathy/polyneuropathy after septic shock 5 months prior to her presentation. After exclusion of differential diagnosis, "late onset small fiber neuropathy" after critical illness was diagnosed. Recent studies showed small fiber lesions during critical illness and in follow-up exams, where additionally neuropathic pain were proved...
March 2017: Anästhesiologie, Intensivmedizin, Notfallmedizin, Schmerztherapie: AINS
https://www.readbyqxmd.com/read/28301586/influence-of-early-neurological-complications-on-clinical-outcome-following-lung-transplant
#7
Josep Gamez, Maria Salvado, Alejandro Martinez-de La Ossa, Maria Deu, Laura Romero, Antonio Roman, Judith Sacanell, Cesar Laborda, Isabel Rochera, Miriam Nadal, Francesc Carmona, Estevo Santamarina, Nuria Raguer, Merce Canela, Joan Solé
BACKGROUND: Neurological complications after lung transplantation are common. The full spectrum of neurological complications and their impact on clinical outcomes has not been extensively studied. METHODS: We investigated the neurological incidence of complications, categorized according to whether they affected the central, peripheral or autonomic nervous systems, in a series of 109 patients undergoing lung transplantation at our center between January 1 2013 and December 31 2014...
2017: PloS One
https://www.readbyqxmd.com/read/28299525/poems-syndrome-an-enigma
#8
REVIEW
Rahma Warsame, Uday Yanamandra, Prashant Kapoor
POEMS syndrome is a paraneoplastic disorder secondary to an underlying plasma cell dyscrasia. By definition, all patients with POEMS syndrome must display polyneuropathy and monoclonal plasma cell disorder. In addition, at least one major criterion (Castleman's disease, sclerotic bone lesions, or vascular endothelial growth factor elevation) and one minor criterion (organomegaly, extravascular volume overload, endocrinopathy, skin changes, papilledema, thrombocytosis, or polycythemia) are required for diagnosis...
March 15, 2017: Current Hematologic Malignancy Reports
https://www.readbyqxmd.com/read/28297702/long-term-effective-thalamic-deep-brain-stimulation-for-neuropathic-tremor-in-two-patients-with-charcot-marie-tooth-disease
#9
Lidia Cabañes-Martínez, Marta Del Álamo de Pedro, Gema de Blas Beorlegui, Ignacio Regidor Bailly-Bailliere
BACKGROUND: It has been described that many Charcot-Marie-Tooth syndrome type 2 patients are affected by a very disabling type of tremor syndrome, the pathophysiology of which remains unclear. Deep brain stimulation (DBS) has been successfully applied to treat most types of tremors by implanting electrodes in the ventral intermediate nucleus of the thalamus (Vim). METHODS: We used DBS applied to the Vim in 2 patients with severe axonal inherited polyneuropathies who developed a disabling tremor...
March 16, 2017: Stereotactic and Functional Neurosurgery
https://www.readbyqxmd.com/read/28296226/diabetic-polyneuropathy-is-a-risk-factor-for-decline-of-lower-extremity-strength-in-patients-with-type-2-diabetes
#10
Takuo Nomura, Tomoyasu Ishiguro, Masayoshi Ohira, Yukio Ikeda
AIMS/INTRODUCTION: The present study elucidated the effect of diabetic polyneuropathy (DPN) on lower extremity strength in a wide age range of type 2 diabetic patients. MATERIALS AND METHODS: Participants (n = 1,442) were divided into three age groups (30-49 years, 50-69 years, and 70-87 years), and comparisons were made separately for each sex. Lower extremity strength was measured in terms of knee extension force (KEF) with a hand-held dynamometer. KEF was compared according to the presence or absence of DPN...
March 14, 2017: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/28295152/causally-treatable-hereditary-neuropathies-in-fabry-s-disease-transthyretin-related-familial-amyloidosis-and-pompe-s-disease
#11
REVIEW
J Finsterer, J Wanschitz, S Quasthoff, S Iglseder, W Löscher, W Grisold
OBJECTIVES: Most acquired neuropathies are treatable, whereas genetic neuropathies respond to treatment in Fabry's disease (FD), transthyretin-related familial amyloidosis (TTR-FA), and Pompe's disease (PD). This review summarizes and discusses recent findings and future perspectives concerning etiology, pathophysiology, clinical presentation, diagnosis, treatment, and outcome of neuropathy in FD, TTR-FA, and PD. METHODS: Literature review. RESULTS: Neuropathy in FD concerns particularly small, unmyelinated, or myelinated sensory fibers (small fiber neuropathy [SFN]) and autonomic fibers, manifesting as acroparesthesias, Fabry's crises, or autonomous disturbances...
March 12, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28294976/vitamins-and-microelement-bioavailability-in-different-stages-of-chronic-kidney-disease
#12
REVIEW
Magdalena Jankowska, Bolesław Rutkowski, Alicja Dębska-Ślizień
Chronic kidney disease (CKD) predisposes one to either deficiency or toxic excess of different micronutrients. The knowledge on micronutrients-specifically water-soluble vitamins and trace elements-in CKD is very limited. Consequently, current guidelines and recommendations are mostly based on expert opinions or poor-quality evidence. Abnormalities of micronutrient resources in CKD develop for several reasons. Dietary restrictions and anorexia lead to an insufficient micronutrient intake, while diuretics use and renal replacement therapy lead to their excessive losses...
March 15, 2017: Nutrients
https://www.readbyqxmd.com/read/28291506/immunotactoid-glomerulopathy-leading-to-the-discovery-of-poems-syndrome%C3%A2
#13
Carole Philipponnet, Jean-Louis Kemeny, Cyril Garrouste, Martin Soubrier, Anne-Elisabeth Heng
Monoclonal gammopathy of renal significance (MGRS) can manifest in many different ways depending on the nature of the immunoglobulin and its physicochemical properties. MGRS can lead to the discovery of a hematological malignancy. We report the case of a 32-year-old female patient who underwent renal biopsy on account of an impure nephrotic syndrome associated with immunoglobulin (Ig)G κ monoclonal gammopathy. Histological analysis revealed membranoproliferative glomerulonephritis with IgG, IgM, κ, λ, and C3 deposits...
March 14, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28285381/the-impact-of-type-1-diabetes-and-diabetic-polyneuropathy-on-muscle-strength-and-fatigability
#14
Giorgio Orlando, Stefano Balducci, Ilenia Bazzucchi, Giuseppe Pugliese, Massimo Sacchetti
AIMS: Although it is widely accepted that diabetic polyneuropathy (DPN) is linked to a marked decline in neuromuscular performance, information on the possible impact of type 1 diabetes (T1D) on muscle strength and fatigue remains unclear. The purpose of this study was to investigate the effects of T1D and DPN on strength and fatigability in knee extensor muscles. METHODS: Thirty-one T1D patients (T1D), 22 T1D patients with DPN (DPN) and 23 matched healthy control participants (C) were enrolled...
March 11, 2017: Acta Diabetologica
https://www.readbyqxmd.com/read/28284391/neuromuscular-manifestations-in-mitochondrial-diseases-in-children
#15
Andrés Nascimento, Carlos Ortez, Cristina Jou, Mar O'Callaghan, Federico Ramos, Àngels Garcia-Cazorla
Mitochondrial diseases exhibit significant clinical and genetic heterogeneity. Mitochondria are highly dynamic organelles that are the major contributor of adenosine triphosphate, through oxidative phosphorylation. These disorders may be developed at any age, with isolated or multiple system involvement, and in any pattern of inheritance. Defects in the mitochondrial respiratory chain impair energy production and almost invariably involve skeletal muscle and peripheral nerves, causing exercise intolerance, cramps, recurrent myoglobinuria, or fixed weakness, which often affects extraocular muscles and results in droopy eyelids (ptosis), progressive external ophthalmoplegia, peripheral ataxia, and peripheral polyneuropathy...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28283677/guillain-barr%C3%A3-syndrome-presenting-with-sinus-node-dysfunction-and-refractory-shock
#16
Le Dung Ha, Farrukh Abbas, Mohan Rao
BACKGROUND Guillain-Barré syndrome (GBS) is an acute inflammatory demyelinating polyneuropathy that is usually associated with preceding respiratory or gastrointestinal infection and has the hallmark manifestation of ascending flaccid paralysis. We report an atypical presentation of GBS. CASE REPORT A 76-year-old male presented with acute onset of diaphoresis and altered mental status. He subsequently developed severe bradycardia and refractory hypotension, which initially responded to dopamine infusion. A temporary pacemaker wire was placed to stabilize the heart rate but hypotension persisted...
March 11, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28283332/corrigendum-to-challenges-in-pediatric-chronic-inflammatory-demyelinating-polyneuropathy-neuromuscular-disorders-26-12-2016-817-824
#17
Göknur Haliloğlu, Deniz Yüksel, Cağri Mesut Temoçin, Haluk Topaloğlu
No abstract text is available yet for this article.
March 7, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28281855/nc-stat-for-the-diagnosis-of-diabetic-polyneuropathy
#18
K Pafili, E Maltezos, N Papanas
No abstract text is available yet for this article.
March 10, 2017: Expert Review of Medical Devices
https://www.readbyqxmd.com/read/28272196/transthyretin-related-hereditary-amyloidosis-with-recurrent-vomiting-and-renal-insufficiency-as-the-initial-presentation-a-case-report
#19
Jing Xu, Meng Yang, Xiaoxia Pan, Xialian Yu, Jingyuan Xie, Hong Ren, Xiao Li, Nan Chen
RATIONALE: Hereditary amyloidosis is diagnosed worldwidely with an increasing incidence. As the most common form, transthyretin-related hereditary amyloidosis (ATTR amyloidosis) is an autosomal dominant inherited disease due to mutations of TTR. Over the past several decades, more than 130 mutations have been reported. Previous studies suggested that ATTR amyloidosis initially showed polyneuropathy and autonomic dysfunction but later involving many visceral organs, such as kidney. PATIENT CONCERNS: A young proband carrying TTR p...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28272120/the-impact-of-serum-drug-concentration-on-the-efficacy-of-imipramine-pregabalin-and-their-combination-in-painful-polyneuropathy
#20
Søren H Sindrup, Jakob V Holbech, Flemming W Bach, Nanna B Finnerup, Kim Brøsen, Troels S Jensen
OBJECTIVE: The serum concentration-effect relation was explored for first line drugs in neuropathic pain and aimed to determine if efficacy could be increased. METHODS: Data from a randomized, placebo-controlled, cross-over trial on imipramine, pregabalin and their combination in painful polyneuropathy were used. Treatment periods were of 4 weeks' duration, outcome was the weekly median of daily pain rated by a 0-10 numeric scale, and drug concentrations were determined by high-performance liquid chromatography...
March 7, 2017: Clinical Journal of Pain
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