7,009 results match your criteria Autonomic Neuropathy


Hereditary sensory and autonomic neuropathy type IC (HSAN1C) accompanied by upper motor neuron abnormalities and type II juxtafoveal retinal telangiectasias.

J Peripher Nerv Syst 2019 Mar 13. Epub 2019 Mar 13.

Concord Repatriation General Hospital, Sydney, Australia.

Hereditary sensory and autonomic neuropathy type I (HSAN-1) is an autosomal dominant sensory neuropathy occurring secondary to mutations in the SPTLC1 and SPTLC2 genes. We present two generations of a single family with Ser384Phe mutation in the SPTLC2 gene located on chromosome 14q24 characterized by a typical HSAN-1c presentation, with additional findings upper motor neuron signs, early demyelinating features on nerve conduction studies and type II juxtafoveal retinal telangiectasias also known as macular telangiectasias (MacTel II). Though HSAN1 is characterized as an axonal neuropathy demyelinating features were identified in two subjects on serial nerve conduction studies comprising of motor conduction block, temporal dispersion and prolongation of F-waves. Read More

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http://dx.doi.org/10.1111/jns.12315DOI Listing

Cardiac Autonomic Function is Associated With Myocardial Flow Reserve in Type 1 Diabetes.

Diabetes 2019 Mar 12. Epub 2019 Mar 12.

Steno Diabetes Center Copenhagen, Niels Steensens Vej 2, 2820 Gentofte, Denmark.

The link between cardiac autonomic neuropathy and risk of cardiovascular disease is highlighted as an area in which research is needed. This study was undertaken to evaluate the association between measures of cardiac autonomic function and cardiac vascular function in type 1 diabetes using new and sensitive methods.Cross-sectional study in type 1 diabetes, stratified by normoalbuminuria (n=30) and macroalbuminuria (n=30), and in healthy controls (n=30). Read More

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http://dx.doi.org/10.2337/db18-1313DOI Listing

Clinical factors associated with the recovery of cardiovascular autonomic neuropathy in patients with type 2 diabetes mellitus.

Cardiovasc Diabetol 2019 Mar 11;18(1):29. Epub 2019 Mar 11.

Division of Endocrinology and Metabolism, Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-Ro, Gangnam-Gu, Seoul, 135-710, Republic of Korea.

Background: Cardiovascular autonomic neuropathy (CAN) is a major cause of morbidity and mortality in diabetes patients. Although several risk factors for CAN progression have been established, whether CAN is reversible remains unclear and the clinical factors associated with CAN recovery have not been identified. This study aimed to determine clinical factors related to CAN recovery. Read More

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https://cardiab.biomedcentral.com/articles/10.1186/s12933-01
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http://dx.doi.org/10.1186/s12933-019-0830-4DOI Listing
March 2019
2 Reads

Sleep duration is a significant predictor of cardiac autonomic neuropathy in type 2 diabetes mellitus.

Prim Care Diabetes 2019 Mar 5. Epub 2019 Mar 5.

Diabetes Research Group, Centre for Physiotherapy and Rehabilitation Sciences, Jamia Millia Islamia (A Central University), New Delhi-110025, India. Electronic address:

Aim: To investigate the association between sleep quality outcomes and measures of cardiac autonomic function and to assess the predictive ability of sleep quality outcomes for cardiac autonomic neuropathy (CAN) in type 2 diabetes mellitus (T2DM).

Methods: Fifty patients with T2DM (age, 51.3±7. Read More

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http://dx.doi.org/10.1016/j.pcd.2019.02.002DOI Listing
March 2019
1 Read

Postprandial Blood Pressure Decrease in Patients with Type 2 Diabetes and Mild or Severe Cardiac Autonomic Dysfunction.

Int J Environ Res Public Health 2019 Mar 6;16(5). Epub 2019 Mar 6.

Graduate School of Health Sciences, Kobe University, Kobe 654-0142, Japan.

Few reports have evaluated the relationship between changes in postprandial blood pressure and the severity of autonomic dysfunction in patients with type 2 diabetes. This was a cross-sectional study designed to investigate postprandial blood pressure changes in individuals without type 2 diabetes and patients with type 2 diabetes and mild or severe cardiac autonomic dysfunction. Forty patients with type 2 diabetes mellitus and 20 individuals without type 2 diabetes participated in this study. Read More

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http://dx.doi.org/10.3390/ijerph16050812DOI Listing
March 2019
1 Read

Is our treatment in type 1 diabetes mellitus (insulin therapy models, metabolic control) optimal for preventing cardiovascular autonomic neuropathy?

Endokrynol Pol 2019 Mar 7. Epub 2019 Mar 7.

Katedra i Klinika Chorób Metabolicznych, Collegium Medicum Uniwersytetu Jagiellońskiego w Krakowie, Poland.

Introduction: Long-term poor metabolic control promotes the occurrence of microvascular complications, such cardiovascular autonomic neuropathy and atherogenic hyperlipidaemia, which translates into increased mortality in patients with type 1 diabetes (T1DM).

Aims: To assess the prevalence of cardiovascular autonomic neuropathy (CAN) in patients with T1DM in relation to treatment method (continuous subcutaneous insulin infusion (CSII) versus multiple daily injections using pens (MDI)) and lipid control.

Material And Methods: The study group comprised 93 adults (60 women, 33 men), median age 31, with T1DM being treated in a local clinical centre in 2011-2015. Read More

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http://dx.doi.org/10.5603/EP.a2019.0011DOI Listing
March 2019
1 Read

The additional impact of type 2 diabetes on baroreflex sensitivity of coronary artery disease patients might be undetectable in presence of deterioration of mechanical vascular properties.

Med Biol Eng Comput 2019 Mar 7. Epub 2019 Mar 7.

Department of Physical Therapy, Federal University of São Carlos, São Carlos, São Paulo, Brazil.

Both deterioration of the mechanical vascular properties of barosensitive vessels and autonomic derangement lead to modification of baroreflex sensitivity (BRS) in coronary artery disease (CAD) individuals. Type 2 diabetes (T2D) reduces BRS as well even in absence of cardiac autonomic neuropathy. The aim of the study is to clarify whether, assigned the degree of mechanical vascular impairment and without cardiac autonomic neuropathy, the additional autonomic dysfunction imposed in CAD patients by T2D (CAD-T2D) decreases BRS further. Read More

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http://dx.doi.org/10.1007/s11517-019-01966-3DOI Listing
March 2019
3 Reads

Increased Intraepidermal Nerve Fiber Degeneration and Impaired Regeneration Relate to Symptoms and Deficits in Parkinson's Disease.

Front Neurol 2019 14;10:111. Epub 2019 Feb 14.

Division of Cardiovascular Sciences, University of Manchester, Manchester, United Kingdom.

Previous studies have shown cutaneous small fiber pathology in patients with Parkinson's disease (PD). These studies have focused on nerve degeneration, but recent reports suggest that nerve regeneration may also be important in PD pathology. To establish the extent of intraepidermal nerve fiber (IENF) degeneration and regeneration and its relationship to clinical and neurological deficits in Parkinson's disease (PD). Read More

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http://dx.doi.org/10.3389/fneur.2019.00111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383044PMC
February 2019
2 Reads

Extreme Ends of Pain Sensitivity in SCN9A Mutation Variants: Case Report and Literature Review.

Innov Clin Neurosci 2018 Nov;15(11-12):33-35

Dr. Majeed is Attending Psychiatrist with the Department of Psychiatry at Natchaug Hospital in Norwich, Connecticut.

Pain insensitivity disorders are rare; however, when individuals are insensitive to pain, they are significantly more vulnerable to physical injuries, with higher morbidity and mortality rates, compared with the general population. The authors present the case of an 11-month-old male infant with SCN 9A gene mutation that resulted in congenital insensitivity to pain, while his mother, with a different mutation of the same gene, had hypersensitivity to pain. This is a rare familial presentation of the extreme ends of pain sensitivity, and might be the first such example in medical literature. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380612PMC
November 2018

An update on the diagnosis and treatment of diabetic somatic and autonomic neuropathy.

F1000Res 2019 15;8. Epub 2019 Feb 15.

Institute of Cardiovascular Sciences, University of Manchester and Central Manchester NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

Diabetic peripheral neuropathy (DPN) is the most common chronic complication of diabetes. It poses a significant challenge for clinicians as it is often diagnosed late when patients present with advanced consequences such as foot ulceration. Autonomic neuropathy (AN) is also a frequent and under-diagnosed complication unless it is overtly symptomatic. Read More

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http://dx.doi.org/10.12688/f1000research.17118.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381801PMC
February 2019
1 Read

Droxidopa for Hypotension of Different Etiologies: Two Case Reports.

P T 2019 Mar;44(3):125-144

Orthostatic hypotension is defined as a decrease in systolic blood pressure of at least 20 mmHg or a decrease in diastolic blood pressure of at least 10 mmHg (or both), within three minutes of moving from a supine to an upright or standing position. Droxidopa is a synthetic amino acid analog that is directly metabolized to norepinephrine by dopa-decarboxylase, subsequently providing alpha and beta-agonist effects to increase blood pressure. It is indicated in the treatment of neurogenic orthostatic hypotension caused by primary autonomic failure that is associated with Parkinson disease, multi-system atrophy, pure autonomic failure, dopamine beta-hydroxylase deficiency, and/or non-diabetic autonomic neuropathy. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385736PMC
March 2019
1 Read

Review of Diabetic Polyneuropathy: Pathogenesis, Diagnosis and Management According to the Consensus of Egyptian Experts.

Curr Diabetes Rev 2019 Feb 26. Epub 2019 Feb 26.

Faculty of Medicine, Alexandria University. Egypt.

Diabetic polyneuropathy (DPN) is a complex and multifactorial entity in which various factors besides hyperglycemia play an important role. Symptoms of DPN are sensory, motor or autonomic. Intensive research proved that oxidative stress is the common denominator for the four major destructive pathways of hyperglycemia including increased hexosamine pathway flux, activation of Protein kinase-C (PKC) pathway, increased Advanced Glycated End-products (AGEs) formation, and increased Polyol Pathway flux. Read More

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http://dx.doi.org/10.2174/1573399815666190226150402DOI Listing
February 2019
6 Reads

Baseline disease characteristics in Brazilian patients enrolled in Transthyretin Amyloidosis Outcome Survey (THAOS).

Arq Neuropsiquiatr 2019 Feb;77(2):96-100

Universidade Federal do Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Centro de Estudos em Paramiloidose Antônio Rodrigues de Mello.

Transthyretin amyloidosis (ATTR) is characterized by the deposit of mutant or wild-type transthyretin that forms amyloid fibrils, which are extracellularly deposited within tissues and organs. Clinical manifestations of familial amyloid polyneuropathy vary according to the mutation, age at onset and geographical location. This study aimed to describe baseline disease characteristics of Brazilian patients with transthyretin familial amyloid polyneuropathy (ATTR-FAP) enrolled in the Transthyretin Amyloidosis Outcome Survey (THAOS). Read More

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http://dx.doi.org/10.1590/0004-282X20180156DOI Listing
February 2019

Demyelinating Neuropathy in a Patient Treated With Revusiran for Transthyretin (Thr60Ala) Amyloidosis.

J Clin Neuromuscul Dis 2019 Mar;20(3):120-128

Division of Neuropathology, Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY.

Transthyretin amyloidosis patients develop length-dependent peripheral neuropathy, autonomic dysfunction, and restrictive cardiomyopathy associated with deposition of amyloid fibrils in these tissues. Despite advances in management over the past decade, this disorder causes profound debilitation and ultimately proves fatal. In this report, we describe a man with late-onset cardiac amyloidosis due to a transthyretin Thr60Ala mutation who was treated with an investigational RNAi therapeutic, revusiran, which targets hepatic transthyretin production. Read More

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http://dx.doi.org/10.1097/CND.0000000000000242DOI Listing
March 2019
1 Read

Clinical Implications of Baroreflex Sensitivity in Type 2 Diabetes.

Int Heart J 2019 Feb 22. Epub 2019 Feb 22.

Department of Cardiology, Jikei University School of Medicine.

The evaluation of baroreflex sensitivity (BRS), which maintains systemic circulatory homeostasis, is an established tool to assess cardiovascular autonomic neuropathy in type 2 diabetes mellitus (T2DM). As BRS plays an important function in blood pressure regulation, reduced BRS leads to an increase in blood pressure variability, which further leads to reduced BRS. This sequence of events becomes a vicious cycle. Read More

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http://dx.doi.org/10.1536/ihj.18-455DOI Listing
February 2019

Update on the Impact, Diagnosis and Management of Cardiovascular Autonomic Neuropathy in Diabetes: What Is Defined, What Is New, and What Is Unmet.

Diabetes Metab J 2019 Feb;43(1):3-30

Division of Endocrinology, Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.

The burden of diabetic cardiovascular autonomic neuropathy (CAN) is expected to increase due to the diabetes epidemic and its early and widespread appearance. CAN has a definite prognostic role for mortality and cardiovascular morbidity. Putative mechanisms for this are tachycardia, QT interval prolongation, orthostatic hypotension, reverse dipping, and impaired heart rate variability, while emerging mechanisms like inflammation support the pervasiveness of autonomic dysfunction. Read More

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http://dx.doi.org/10.4093/dmj.2018.0259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6387879PMC
February 2019

Cardiac Autonomic Neuropathy in Diabetes Mellitus.

Methodist Debakey Cardiovasc J 2018 Oct-Dec;14(4):251-256

HOUSTON METHODIST HOSPITAL, HOUSTON, TEXAS.

Cardiovascular autonomic neuropathy (CAN) is a severely debilitating yet underdiagnosed condition in patients with diabetes. The prevalence can range from 2.5% (based on the primary prevention cohort in the Diabetes Control and Complications Trial) to as high as 90% of patients with type 1 diabetes. Read More

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http://dx.doi.org/10.14797/mdcj-14-4-251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369622PMC
February 2019

Broadening the Spectrum of Adulthood X-Linked Adrenoleukodystrophy: A Report of Two Atypical Cases.

Front Neurol 2019 6;10:70. Epub 2019 Feb 6.

Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.

X-linked adrenoleukodystrophy (x-ALD) is a rare genetic disorder caused by a mutation in the gene, which encodes for a peroxisomal very long chain fatty acid transporter. Clinically, x-ALD can present a wide spectrum of different phenotypes: asymptomatic carriers, Addison only, cerebral x-ALD, and myelopathy with/without evidence of peripheral axonopathy (Adrenomyeloneuropathy). We report on two cases of adult x-ALD, with atypical phenotypes: A 37-years-old male with a 2-years-long history of spastic paraparesis, urinary urgency, and subclinical adrenocortical insufficiency. Read More

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http://dx.doi.org/10.3389/fneur.2019.00070DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372518PMC
February 2019
2 Reads

Association of cardiovascular autonomic dysfunction with peripheral arterial stiffness in patients with type 1 diabetes.

J Clin Endocrinol Metab 2019 Feb 20. Epub 2019 Feb 20.

Department of Endocrinology and Nutrition, Hospital Universitario Ramón y Cajal, Madrid, Spain.

Context: Cardiovascular autonomic (CAN) neuropathy appears to contribute to peripheral arterial stiffness (AS) in type 1 diabetes. If CAN in patients with AS is associated to concomitant asymptomatic atherosclerotic disease (aPAD) remains unclear.

Objective: To assess the risk of CAN in patients with type 1 diabetes and AS and its potential association to atherosclerosis. Read More

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https://academic.oup.com/jcem/advance-article/doi/10.1210/jc
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http://dx.doi.org/10.1210/jc.2018-02729DOI Listing
February 2019
6 Reads

Dyshidrosis is associated with reduced amplitudes in electrically evoked pain-related potentials in women with Fabry disease.

Clin Neurophysiol 2019 Apr 4;130(4):528-536. Epub 2019 Feb 4.

Department of Neurology, University of Würzburg, Germany; Fabry Center for Interdisciplinary Therapy (FAZIT), University of Würzburg, Germany. Electronic address:

Objective: To investigate A-delta fiber conduction in mild to moderate Fabry disease (FD) patients using pain-related evoked potentials (PREP).

Methods: In this case-control study we prospectively investigated 58 patients with mild to moderate FD and compared data with those of healthy controls. Small fiber function (quantitative sensory testing, QST and sympathetic skin response, SSR), morphology (intraepidermal nerve fiber density, IENFD), and electrical conduction (PREP) were assessed and correlated with sweating as major autonomic function disturbed in FD. Read More

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http://dx.doi.org/10.1016/j.clinph.2019.01.008DOI Listing

Quantitative magnetic resonance evaluation of the trigeminal nerve in familial dysautonomia.

Clin Auton Res 2019 Feb 19. Epub 2019 Feb 19.

Department of Radiology, New York University School of Medicine, New York, NY, 10016, USA.

Purpose: Familial dysautonomia (FD) is a rare autosomal recessive disease that affects the development of sensory and autonomic neurons, including those in the cranial nerves. We aimed to determine whether conventional brain magnetic resonance imaging (MRI) could detect morphologic changes in the trigeminal nerves of these patients.

Methods: Cross-sectional analysis of brain MRI of patients with genetically confirmed FD and age- and sex-matched controls. Read More

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http://dx.doi.org/10.1007/s10286-019-00593-0DOI Listing
February 2019

Blood pressure circadian rhythm alterations in alpha-synucleinopathies.

J Neurol 2019 Feb 19. Epub 2019 Feb 19.

Autonomic Unit and Hypertension Unit, Department of Medical Sciences, University of Turin, via Genova 3, 10126, Turin, Italy.

Introduction: We sought to analyze the blood pressure (BP) circadian rhythm in Parkinson's disease (PD), multiple system atrophy (MSA), and pure autonomic failure (PAF) and to evaluate the effect of vasoactive and dopaminergic medications on BP fluctuations during activities of daily living.

Methods: We analyzed data from patients with PD (n = 72), MSA (n = 18), and PAF (n = 17) evaluated with 24-h ambulatory BP monitoring (ABPM) at our Center between 1996 and 2015. Comparisons between groups were performed according to (a) clinical diagnosis and (b) pharmacological treatment. Read More

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http://dx.doi.org/10.1007/s00415-019-09244-wDOI Listing
February 2019
2 Reads

Diagnosing and managing diabetic somatic and autonomic neuropathy.

Ther Adv Endocrinol Metab 2019 4;10:2042018819826890. Epub 2019 Feb 4.

Weill Cornell Medicine-Qatar, Education City, Doha 24144, Qatar.

The diagnosis and management of diabetic neuropathy can be a major challenge. Late diagnosis contributes to significant morbidity in the form of painful diabetic neuropathy, foot ulceration, amputation, and increased mortality. Both hyperglycaemia and cardiovascular risk factors are implicated in the development of somatic and autonomic neuropathy and an improvement in these risk factors can reduce their rate of development and progression. Read More

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http://dx.doi.org/10.1177/2042018819826890DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365998PMC
February 2019
1 Read

ATL3 Is a Tubular ER-Phagy Receptor for GABARAP-Mediated Selective Autophagy.

Curr Biol 2019 Mar 14;29(5):846-855.e6. Epub 2019 Feb 14.

Key Laboratory of Cell Proliferation and Differentiation of the Ministry of Education, State Key Laboratory of Membrane Biology, College of Life Sciences, Peking University, Beijing 100871, China; Center for Quantitative Biology, Peking University, Beijing 100871, China. Electronic address:

The endoplasmic reticulum (ER) consists of the nuclear envelope and both peripheral ER sheets and a peripheral tubular network [1, 2]. In response to physiological or pathological conditions, receptor-mediated selective ER-phagy, engulfing specific ER subdomains or components, is essential for ER turnover and homeostasis [3-6]. Four mammalian receptors for ER-phagy have been reported: FAM134B [7], reticulon 3 (RTN3) [8], SEC62 [9], and CCPG1 [10]. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09609822193007
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http://dx.doi.org/10.1016/j.cub.2019.01.041DOI Listing
March 2019
5 Reads

Nocturnal ventricular arrhythmias are associated with severity of cardiovascular autonomic neuropathy in type 2 diabetes.

J Diabetes 2019 Feb 15. Epub 2019 Feb 15.

Department of Endocrinology, Drum Tower Hospital Affiliated to Nanjing University Medical School, Nanjing, Jiangsu, China.

Background: Cardiovascular autonomic neuropathy (CAN) is a risk factor for arrhythmias and adverse cardiovascular events, but the relation between the severity of CAN progression and nocturnal arrhythmias needs to be furthermore clarified. The following study aims to evaluate the association between nocturnal arrhythmias and severity of CAN in patients with type 2 diabetes.

Methods: 219 type 2 diabetes patients were recruited from January 2017 to May 2018. Read More

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http://dx.doi.org/10.1111/1753-0407.12908DOI Listing
February 2019
1 Read

Cardiovascular autonomic neuropathy in type 2 diabetic patients.

Rev Assoc Med Bras (1992) 2019 Jan;65(1):56-60

Full Professor - Department of Cardiology - Laboratory of Vascular Biology and Atherosclerosis - FCM - Unicamp - São Paulo (SP) - Brasil.

Diabetes is one of the most common chronic pathologies around the world, involving treatment with general clinicians, endocrinologists, cardiologists, ophthalmologists, nephrologists and a multidisciplinary team. Patients with type 2 Diabetes Mellitus (T2DM) can be affected by cardiac autonomic neuropathy, leading to increased mortality and morbidity. In this review, we will present current concepts, clinical features, diagnosis, prognosis, and possible treatment. Read More

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S
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http://dx.doi.org/10.1590/1806-9282.65.1.56DOI Listing
January 2019
5 Reads

Obstructive and nonobstructive coronary artery disease in long-lasting type 1 diabetes: a 7-year prospective cohort study.

Pol Arch Intern Med 2019 Feb 13;129(2):893-901. Epub 2019 Feb 13.

INTRODUCTION It is widely believed that patients with diabetes are at increased risk of severe and premature coronary artery disease (CAD) when compared with nondiabetic individuals. OBJECTIVES The aim of the study was to evaluate the prevalence, 7‑year incidence, predictors, and outcomes of obstructive and nonobstructive CAD in patients with long‑lasting type 1 diabetes. PATIENTS AND METHODS We enrolled 2330 patients at a median age of 50 years and a median diabetes duration of 32 years. Read More

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http://dx.doi.org/10.20452/pamw.4440DOI Listing
February 2019
1 Read

Association of small fiber neuropathy and post treatment Lyme disease syndrome.

PLoS One 2019 12;14(2):e0212222. Epub 2019 Feb 12.

Dean Center for Tick Borne Illness, Department of Physical Medicine and Rehabilitation, Spaulding Rehabilitation Hospital, Harvard Medical School, Boston, Massachusetts, United States of America.

Objectives: To examine whether post-treatment Lyme disease syndrome (PTLDS) defined by fatigue, cognitive complaints and widespread pain following the treatment of Lyme disease is associated with small fiber neuropathy (SFN) manifesting as autonomic and sensory dysfunction.

Methods: This single center, retrospective study evaluated subjects with PTLDS. Skin biopsies for assessment of epidermal nerve fiber density (ENFD), sweat gland nerve fiber density (SGNFD) and functional autonomic testing (deep breathing, Valsalva maneuver and tilt test) were performed to assess SFN, severity of dysautonomia and cerebral blood flow abnormalities. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0212222PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372188PMC
February 2019
6 Reads

Skin Nerve Pathology: Biomarkers of Premanifest and Manifest Amyloid Neuropathy.

Ann Neurol 2019 Feb 8. Epub 2019 Feb 8.

Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.

Objective: Small-fiber sensory and autonomic symptoms are early presentations of familial amyloid polyneuropathy (FAP) with transthyretin (TTR) mutations. This study aimed to explore the potential of skin nerve pathologies as early and disease-progression biomarkers and their relationship with skin amyloid deposits.

Methods: Skin biopsies were performed in patients and carriers to measure intraepidermal nerve fiber (IENF) density, sweat gland innervation index of structural protein gene product 9. Read More

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http://dx.doi.org/10.1002/ana.25433DOI Listing
February 2019

Diagnosis of cardiovascular autonomic neuropathy in diabetes: as simple as possible, but not simpler?

Authors:
K Pafili N Papanas

Acta Diabetol 2019 Feb 8. Epub 2019 Feb 8.

Diabetes Clinic Centre, Second Department of Internal Medicine, Democritus University of Thrace, University Hospital of Alexandroupolis, 68100, Alexandroupolis, Greece.

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http://dx.doi.org/10.1007/s00592-018-01279-1DOI Listing
February 2019

Diagnosis of cardiovascular autonomic neuropathy in diabetes: as simple as possible, but not simpler? An answer.

Authors:
G Bax F Bellavere

Acta Diabetol 2019 Feb 8. Epub 2019 Feb 8.

Endocrinology and Diabetes section "Rizzola" Foundation Hospital, San Donà, Venezia, Italy.

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http://dx.doi.org/10.1007/s00592-018-01281-7DOI Listing
February 2019
1 Read

[Neuropathy and Fabry's disease. Report of five cases].

Rev Med Chil 2018 Sep;146(9):1079-1084

Departamento de Neurología y Psiquiatría, Clínica Alemana de Santiago, Universidad del Desarrollo, Santiago, Chile.

Fabry's disease is an X-linked multisistemic lisosomal storage disorder caused by deficiency or absence in α-Galatosidase A. Symptoms develop early in childhood with small fiber neuropathy, autonomic disorders and skin lesions (angiokeratomas). More severe in males, patients develop over years heart disease (hypertrophic cardiomyopathy, bradycardia), proteinuria, renal failure, transient ischemic attacks and stroke, associated with decreased life expectancy. Read More

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http://dx.doi.org/10.4067/s0034-98872018000901079DOI Listing
September 2018
1 Read

Correlation of systemic arterial stiffness with changes in retinal and choroidal microvasculature in type 2 diabetes.

Sci Rep 2019 Feb 4;9(1):1401. Epub 2019 Feb 4.

Department of Ophthalmology and Visual Science, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.

This study was conducted to assess whether systemic arterial stiffness, indicated by cardio-ankle vascular index (CAVI), is related to changes in the microvasculature of the retina and choroid in diabetes mellitus (DM). This study included 113 patients with a confirmed diagnosis of type-2 DM. Among them, 18 patients did not have diabetic retinopathy (DR), 71 had non-proliferative DR (NPDR), and 24 had proliferative DR (PDR). Read More

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http://dx.doi.org/10.1038/s41598-018-37969-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361886PMC
February 2019

6MWT performance correlates with peripheral neuropathy but not with cardiac involvement in patients with hereditary transthyretin amyloidosis (hATTR).

Neuromuscul Disord 2018 Nov 14. Epub 2018 Nov 14.

Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

Hereditary transthyretin amyloidosis (hATTR) is a life-threatening multisystemic disease with sensory-motor peripheral neuropathy, cardiomyopathy and dysautonomia. Although the six-minute walk test (6MWT) is one of the most popular clinical tests to assess functional exercise capacity in cardiopulmonary and neuromuscular diseases, little is known about 6MWT in evaluating hATTR patients. A prospective single-center pilot study was performed in twenty hATTR patients, comparing 6MWT with widely used outcome measures. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.11.002DOI Listing
November 2018
1 Read

Patterns of peripheral neuropathy in Sjogren's syndrome in a tertiary care hospital from South India.

Neurol India 2019 Jan-Feb;67(Supplement):S94-S99

Department of Neurology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.

Introduction: Sjogren's syndrome (SS) is a systemic autoimmune disease that apart from involving the exocrine glands can affect any organ. Involvement of the peripheral nervous system results in a wide spectrum of neuropathic manifestations.

Objective: To evaluate the clinico-electrophysiological patterns as well as pathological characteristics of neuropathy in SS patients presenting to a neuromuscular clinic in a tertiary hospital from South India. Read More

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http://dx.doi.org/10.4103/0028-3886.250714DOI Listing
January 2019
2 Reads
1.084 Impact Factor

Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation.

Eur J Med Genet 2019 Jan 21. Epub 2019 Jan 21.

Institute of Human Genetics, Medical Center of the Johannes Gutenberg University Mainz, University of Mainz, Germany.

Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN-IV), is a rare and severe autosomal recessive disorder. We report on an adult female patient whose clinical findings during childhood were not recognized as CIPA. There was neither complete anhidrosis nor a recognizable sensitivity to heat. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.01.003DOI Listing
January 2019
2 Reads

Atypical Clinical Presentations of Pediatric Acute Immune-Mediated Polyneuropathy.

J Child Neurol 2019 Jan 23:883073818825213. Epub 2019 Jan 23.

2 Institute of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

Guillain-Barré syndrome (GBS) is the most common cause of acute flaccid paralysis in children. During the acute phase, the disorder can be life-threatening by involving the respiratory muscles and the autonomic nervous system. Nevertheless, the prognosis is good, and most children achieve full recovery. Read More

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http://journals.sagepub.com/doi/10.1177/0883073818825213
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http://dx.doi.org/10.1177/0883073818825213DOI Listing
January 2019
6 Reads

First case of insulin neuritis after islet transplantation.

Acta Diabetol 2019 Jan 20. Epub 2019 Jan 20.

Endocrinology Department, Besancon University Hospital, 3 boulevard Fleming, 25030, Besancon Cedex, France.

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http://dx.doi.org/10.1007/s00592-018-01280-8DOI Listing
January 2019
2 Reads

Ayurveda management of Guillain-Barre syndrome: A case report.

J Ayurveda Integr Med 2019 Jan 18. Epub 2019 Jan 18.

Department of Kayachikita, Shri BMK Ayurveda Mahavidyalaya, A Constitunet Unit of KLE Academy of Higher Education & Research, Belagavi, Karnataka, India.

Guillain-Barre syndrome (GBS) is a severe acute paralytic neuropathy with rapid progression usually occurring post infections. Inspite of the active medications it is associated with severe weakness, incomplete recovery and pain. Long disease course can cause autonomic dysfunction or deterioration in general health and life threatening complications like respiratory failures. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09759476173080
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http://dx.doi.org/10.1016/j.jaim.2018.08.004DOI Listing
January 2019
4 Reads

The 2017 Banting Memorial Lecture The diabetic lower limb - a forty year journey: from clinical observation to clinical science.

Diabet Med 2019 Jan 19. Epub 2019 Jan 19.

Division of Diabetes, Endocrinology and Gastroenterology, School of Medical Sciences, University of Manchester, Manchester, UK.

A series of clinical research projects conducted over the past 40 years, all of which were informed by clinical observation or discussions with people with diabetes and staff colleagues are described in this review. A study of necrobiosis lipoidica diabeticorum confirmed that this rare skin complication occurs predominantly in young women with Type 1 diabetes and other microvascular complications. Biopsies of necrobiotic lesions showed destruction of superficial nerve fibres by inflammatory tissue, which likely causes the sensory loss in lesions that is pathognomonic of the condition. Read More

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http://dx.doi.org/10.1111/dme.13901DOI Listing
January 2019
3 Reads

Cognitive Dysfunctions in Type 1 Diabetes.

J Clin Endocrinol Metab 2019 Jan 18. Epub 2019 Jan 18.

Medical University of Gdansk, Faculty of Medicine, Department of Hypertension and Diabetology, Gdansk, Poland.

Context: The review summarizes key studies assessing epidemiology, mechanisms, and consequences of cognitive dysfunction (CD) in type 1 diabetes (DM1).

Evidence Synthesis: In a number of studies, the severity of CD in DM1 was affected by the age of onset and diabetes duration, the presence of proliferative retinopathy and autonomic neuropathy. Diabetes-related CD has been observed not only in adults but also in children and adolescents. Read More

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https://academic.oup.com/jcem/advance-article/doi/10.1210/jc
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http://dx.doi.org/10.1210/jc.2018-01315DOI Listing
January 2019
16 Reads

Lacosamide in patients with Nav1.7 mutations-related small fibre neuropathy: a randomized controlled trial.

Brain 2019 Feb;142(2):263-275

Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center+, Maastricht, The Netherlands.

Symptomatic treatment of neuropathic pain in small fibre neuropathy is often disappointing. The finding of voltage-gated sodium channel mutations in small fibre neuropathy (with mutations in SCN9A, encoding for Nav1.7) being most frequently reported suggest a specific target for therapy. Read More

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https://academic.oup.com/brain/article/142/2/263/5289372
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http://dx.doi.org/10.1093/brain/awy329DOI Listing
February 2019
4 Reads

Preserved Expression of Skin Neurotrophic Factors in Advanced Diabetic Neuropathy Does Not Lead to Neural Regeneration despite Pancreas and Kidney Transplantation.

J Diabetes Res 2018 10;2018:2309108. Epub 2018 Dec 10.

University Hospital of Würzburg, Department of Neurology, 97080 Würzburg, Germany.

Diabetic peripheral neuropathy (DPN) is a common complication of diabetes with potential severe consequences. Its pathogenesis involves hyperglycemia-linked mechanisms, which may include changes in the expression of neurotrophic growth factors. We analyzed the expression of 29 factors potentially related to nerve degeneration and regeneration in skin biopsies from 13 type 1 diabetic pancreas and kidney recipients with severe DPN including severe depletion of intraepidermal nerve fibers (IENF) in lower limb skin biopsies (group Tx1 1st examination). Read More

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http://dx.doi.org/10.1155/2018/2309108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311823PMC
December 2018
4 Reads

Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene.

Case Rep Genet 2018 12;2018:9468049. Epub 2018 Dec 12.

Department of Neurology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

Hereditary sensory and autonomic neuropathies (HSANs) are a clinically and genetically heterogeneous group of disorders involving various sensory and autonomic dysfunctions. The most common symptoms of HSANs include loss of sensations of pain and temperature that frequently lead to chronic ulcerations in the feet and hands of the patient. In this case study, we present the clinical features and genetic characteristics of two affected individuals from two unrelated Saudi families presenting mutilating sensory loss and spastic paraplegia. Read More

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http://dx.doi.org/10.1155/2018/9468049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311306PMC
December 2018
8 Reads

[Relation between sexual dysfunction and metabolic syndrome].

Orv Hetil 2019 Jan;160(3):98-103

Egészségfejlesztési és Népegészségtani Tanszék, Pécsi Tudományegyetem, Egészségtudományi Kar Pécs.

The prevalence of the metabolic syndrome, type 2 diabetes mellitus, cardiovascular diseases, obesity and depression have increased during the recent years. As the sexual dysfunction is also frequent, we aimed to search for the associations between sexual dysfunction and the metabolic syndrome and its components, respectively, by reviewing the literature. The clinical and biochemical components of the metabolic syndrome included cardiovascular disease, type 2 diabetes mellitus, visceral obesity and depression, furthermore, insulin resistance, atherogenic lipid profile, hypogonadism, chronic systemic inflammation and endothelial dysfunction were all demonstrated to affect adversely the sexual function. Read More

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https://www.akademiai.com/doi/10.1556/650.2019.31235
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http://dx.doi.org/10.1556/650.2019.31235DOI Listing
January 2019
6 Reads

Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants.

J Neurol 2019 Mar 12;266(3):735-744. Epub 2019 Jan 12.

Department of Neurology, Rigshospitalet, Neuromuscular Research Center, University of Copenhagen, Copenhagen, Denmark.

SPG31 is a hereditary spastic paraplegia (HSP) caused by pathogenic variants in the REEP1 gene. The phenotype (SPG31) has occasionally been described with peripheral nervous system involvement, in additional to the gradually progressing lower limb spasticity that characterizes HSP. The objective of this study was to characterize patients with pathogenic REEP1 variants and neurophysiologically assess the extent of peripheral nerve involvement in this patient group. Read More

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http://link.springer.com/10.1007/s00415-019-09196-1
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http://dx.doi.org/10.1007/s00415-019-09196-1DOI Listing
March 2019
8 Reads

The Clinical Features of Painful Small-Fiber Neuropathy Suggesting an Origin Linked to Primary Sjögren's Syndrome.

Pain Pract 2019 Jan 12. Epub 2019 Jan 12.

EA 4391, Faculty of Medicine, Paris-Est-Creteil University, Créteil, France.

Objective: We attempted to determine whether clinical features could differentiate painful small-fiber neuropathy related to primary Sj€ogren's syndrome (pSS-SFN) from idiopathic SFN (idio-SFN).

Methods: Validated clinical questionnaires and neurophysiological investigations specific for pain and SFN assessment were performed in 25 patients with pSS-SFN and 25 patients with idio-SFN.

Results: Patients with idio-SFN had more frequent severe burning sensations and higher mean anxiety scores and daily pain intensity compared to patients with pSSSFN. Read More

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http://dx.doi.org/10.1111/papr.12763DOI Listing
January 2019
2 Reads

Uncoupling neurotrophic function from nociception of nerve growth factor: what can be learned from a rare human disease?

Neural Regen Res 2019 Apr;14(4):570-573

Department of Neurosciences, University of California San Diego, La Jolla, CA, USA.

Nerve growth factor (NGF) is a powerful trophic factor that provides essential support for the survival and differentiation of sympathetic and sensory neurons during development. However, NGF also activates nociceptors contributing significantly to inflammatory pain and neuropathic pain after tissue injury. As such anti-NGF based therapies represent a promising strategy for pain management. Read More

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http://www.nrronline.org/text.asp?2019/14/4/570/247442
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http://dx.doi.org/10.4103/1673-5374.247442DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6352596PMC
April 2019
12 Reads

Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1.

Neurology 2019 Jan 9;92(4):e359-e370. Epub 2019 Jan 9.

From the Department of Neurology (V.F., W.D., K.W., R.A.-B., A.L.O., F.E.), Biostatistics Center, Department of Medicine (E.A.M.), and Department of Pathology (Neuropathology) (A.L.O.), Massachusetts General Hospital, Harvard Medical School, Boston; Clinical Chemistry (S.S., T.H.), University Hospital Zurich, Switzerland; and University of Massachusetts Medical School (P.N., D.M.-Y., R.B.), Worcester.

Objective: To evaluate the safety and efficacy of l-serine in humans with hereditary sensory autonomic neuropathy type I (HSAN1).

Methods: In this randomized, placebo-controlled, parallel-group trial with open-label extension, patients aged 18-70 years with symptomatic HSAN1 were randomized to l-serine (400 mg/kg/day) or placebo for 1 year. All participants received l-serine during the second year. Read More

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006811DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6345118PMC
January 2019
17 Reads
8.286 Impact Factor