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Autonomic Neuropathy

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https://www.readbyqxmd.com/read/28328124/exome-sequencing-identifies-novel-ntrk1-mutations-in-patients-with-hsan-iv-phenotype
#1
Ruqaiah Altassan, Haya Al Saud, Tariq Ahmad Masoodi, Haya Al Dosssari, Ola Khalifa, Hamad Al-Zaidan, Nadia Sakati, Zuhair Rhabeeni, Zuhair Al-Hassnan, Yousef Binamer, Nadia Alhashemi, William Wade, Zayed Al-Zayed, Moeen Al-Sayed, Mohamed A Al-Muhaizea, Brian Meyer, Mohammad Al-Owain, Salma M Wakil
Hereditary sensory autonomic neuropathy type IV (HSAN-IV) is a rare autosomal recessive disorder that usually begins in infancy and is characterized by anhidrosis, insensitivity to noxious stimuli leading to self-mutilating behavior, and intellectual disability. HSAN-IV is caused by mutations in the neurotrophic tyrosine kinase receptor type 1 gene, NTRK1, encoding the high-affinity receptor of nerve growth factor (NGF) which maps to chromosome 1q21-q22. Patients with HSAN-IV lack all NGF-dependent neurons, the primary afferents and sympathetic postganglionic neurons leading to lack of pain sensation and the presence of anhidrosis, respectively...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28325598/sudomotor-dysfunction-as-a-measure-of-small-fiber-neuropathy-in-type-1-diabetes
#2
Lynn Ang, Mamta Jaiswal, Brian Callaghan, David Raffel, Morton B Brown, Rodica Pop-Busui
BACKGROUND: This study evaluated whether measuring the electrochemical skin conductance (ESC), as an indirect measure of sudomotor function, may be also a reliable surrogate for early cardiovascular autonomic neuropathy (CAN). METHODS: Longitudinal study included 37 type 1 diabetes (T1D) subjects (mean age 38±13years, duration 15±7years, HbA1c 7.9±1.1%, no known complications at baseline), and 40 age-matched healthy control (HC) subjects. Mean hands ESC (ESChands) and feet (ESCfeet) were measured with the SUDOSCAN (Impeto Medical, France)...
March 10, 2017: Autonomic Neuroscience: Basic & Clinical
https://www.readbyqxmd.com/read/28319106/a-systematic-review-on-the-impact-of-diabetes-mellitus-on-the-ocular-surface
#3
REVIEW
K Co Shih, K S-L Lam, L Tong
Diabetes mellitus is associated with extensive morbidity and mortality in any human community. It is well understood that the burden of diabetes is attributed to chronic progressive damage in major end-organs, but it is underappreciated that the most superficial and transparent organ affected by diabetes is the cornea. Different corneal components (epithelium, nerves, immune cells and endothelium) underpin specific systemic complications of diabetes. Just as diabetic retinopathy is a marker of more generalized microvascular disease, corneal nerve changes can predict peripheral and autonomic neuropathy, providing a window of opportunity for early treatment...
March 20, 2017: Nutrition & Diabetes
https://www.readbyqxmd.com/read/28318780/surface-electromyogram-and-muscle-ultrasonography-for-detection-of-muscle-fasciculations-in-pediatric-peripheral-neuropathy
#4
Masayoshi Oguri, Yoshiaki Saito, Tetsuya Okazaki, Wataru Matsumura, Koyo Ohno, Masami Togawa, Chisako Fukuda, Yuko Saito, Ichizo Nishino, Yoshihiro Maegaki
A 12-year-old girl presented with talipes equinus of both legs, attenuation of upper and lower limb tendon reflexes, thermal hyperalgesia, and reduction of vibratory sensation. On clinical examination, muscle twitches of fingers of both hands, as well as the abductor halluces and the dorsal interossei muscles of the right foot were observed. Nerve conduction velocity was significantly declined in the upper and lower extremities. Needle electromyography (EMG) was not performed; however, ultrasonography revealed repetitive, semi-regular muscle twitches lasting 0...
March 16, 2017: Brain & Development
https://www.readbyqxmd.com/read/28296784/simultaneous-degeneration-of-myenteric-plexuses-and-pelvic-parasympathetic-colonic-nerve-in-slow-transit-constipation-a-case-report
#5
Zhiqiang Cheng, Kun Zhao, Dongsong Bi
RATIONALE: Slow transit constipation (STC) is a common disease of which the etiology is still not clear. Multiple hypotheses have been proposed to explain STC, including autonomic neuropathy, disorders of the enteric nervous system and so forth. Morphological abnormalities of the enteric nerves of the colon in patients with STC have been extensively reported, while there have been no morphological reports focusing on extrinsic extramural fibers from the pelvic plexus to the distal colon (i...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28295152/causally-treatable-hereditary-neuropathies-in-fabry-s-disease-transthyretin-related-familial-amyloidosis-and-pompe-s-disease
#6
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/28288589/choroidal-infarction-in-a-glaucoma-patient-with-flammer-syndrome-a-case-report-with-a-long-term-follow-up
#7
Barbara Terelak-Borys, Iwona Grabska-Liberek, Anita Piekarniak-Wozniak, Katarzyna Konieczka
BACKGROUND: We present a long term follow-up of a young female patient with choroidal infarction, primary open angle glaucoma and Flammer syndrome. The patient had no classical risk factors for vascular occlusions, except for the presence of Flammer syndrome. The essential feature of this syndrome is primary vascular dysregulation, sometimes including vasospasm. The vessels of affected people respond more intensely to a number of stimuli, such as coldness or emotional stress. Any organ can be involved, including parts of the eye...
March 14, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28280746/electrochemical-skin-conductance-may-be-used-to-screen-for-diabetic-cardiac-autonomic-neuropathy-in-a-chinese-population-with-diabetes
#8
Tianyi He, Chuan Wang, Anju Zuo, Pan Liu, Ruxing Zhao, Wenjuan Li, Li Chen, Xinguo Hou
Aims. This study aimed to assess whether the electrochemical skin conductance (ESC) could be used to screen for diabetic cardiac autonomic neuropathy (DCAN) in a Chinese population with diabetes. Methods. We recruited 75 patients with type 2 diabetes mellitus (T2DM) and 45 controls without diabetes. DCAN was diagnosed by the cardiovascular autonomic reflex tests (CARTs) as gold standard. In all subjects ESCs of hands and feet were also detected by SUDOSCAN™ as a new screening method. The efficacy was assessed by receiver operating characteristic (ROC) curve analysis...
2017: Journal of Diabetes Research
https://www.readbyqxmd.com/read/28268476/heart-rate-independent-qt-variability-component-can-detect-subclinical-cardiac-autonomic-neuropathy-in-diabetes
#9
Mohammad H Imam, Chandan K Karmakar, Ahsan H Khandoker, Herbert F Jelinek, M Palaniswami
Cardiac autonomic neuropathy (CAN) may lead to life threatening arrhythmia due to denervation of both the parasympathetic and sympathetic branches of autonomic nervous system innervating the heart. CAN is a frequently under diagnosed complication of diabetes, because a patient can have asymptomatic CAN for several years before it is clinically apparent. However, detection of CAN at the early or subclinical stage leads to more effective treatment outcomes. Cardiac autonomic reflex tests (CART) (i.e. Ewing test battery) are normally used for the detection and staging of CAN...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28252606/-diabetic-asymmetric-proximal-neuropathy
#10
S V Kotov, I G Rudakova, E V Isakova, Yu A Belova, T V Volchenkova, M Khirbek, G A Stashuk
AIM: To study the prevalence, clinical features and treatment of diabetic asymmetric proximal neuropathy (DAPN). MATERIAL AND METHODS: Four hundred and forty-five patients with diabetes mellitus (DM), 257 women and 188 men, mean age 47.6±0.5 years, including 163 patients with DM type I and 282 with DM type II, were examined. RESULTS AND CONCLUSION: Distal symmetric sensory motor polyneuropathy was found in 62% of the patients, autonomic neuropathy in 25...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28252425/-features-of-the-treatment-of-the-spine-in-rheumatoid-arthritis
#11
S Selezneva, O Sinyachenko, А Zabara
Rheumatoid arthritis (RA) refers to the most common inflammatory joint disease, which can lead to persistent disability and early mortality of patients, and one of the manifestations of RA is a frequent lesion of the spine, which significantly affects the quality of life of these patients. OBJECTIVE: To evaluate spine lesion in patients with different types of current RA and factors that determine it. MATERIAL AND METHODS: Under the supervision of the RA patient 131 was aged 18 to 79 years (mean 45 years) among them was 18% male and 82% female...
January 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28245334/association-of-type-1-diabetes-vs-type-2-diabetes-diagnosed-during-childhood-and-adolescence-with-complications-during-teenage-years-and-young-adulthood
#12
Dana Dabelea, Jeanette M Stafford, Elizabeth J Mayer-Davis, Ralph D'Agostino, Lawrence Dolan, Giuseppina Imperatore, Barbara Linder, Jean M Lawrence, Santica M Marcovina, Amy K Mottl, Mary Helen Black, Rodica Pop-Busui, Sharon Saydah, Richard F Hamman, Catherine Pihoker
Importance: The burden and determinants of complications and comorbidities in contemporary youth-onset diabetes are unknown. Objective: To determine the prevalence of and risk factors for complications related to type 1 diabetes vs type 2 diabetes among teenagers and young adults who had been diagnosed with diabetes during childhood and adolescence. Design, Setting, and Participants: Observational study from 2002 to 2015 in 5 US locations, including 2018 participants with type 1 and type 2 diabetes diagnosed at younger than 20 years, with single outcome measures between 2011 and 2015...
February 28, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28244649/cyclic-vomiting-syndrome-after-acute-autonomic-and-sensory-neuropathy
#13
Takashi Enokizono, Kiyotaka Nemoto, Junko Fujiwara, Ryuta Tanaka, Tatsuyuki Ohto
No abstract text is available yet for this article.
February 28, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28243964/associations-of-parathyroid-hormone-levels-and-mineral-parameters-with-heart-rate-variability-in-patients-with-end-stage-renal-disease
#14
Lei Zhang, Shaoyan Yang, Jianling Chen, Jinling Ma, Yueqin Ren
PURPOSE: Parathormone (PTH) is a very potent uraemic toxin, which affects calcium/phosphate homeostasis in patients with end-stage renal disease (ESRD). It also plays the role in uraemic autonomic neuropathy. The aim of the study was to investigate the relationship between elevated PTH levels and cardiac autonomic neuropathy assessed by frequency-domain measures of heart rate variability. METHODS: 24-h ECG was performed in 106 ESRD patients and 65 healthy controls...
February 27, 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/28239423/erratum-to-diagnostic-performance-analysis-for-diabetic-cardiovascular-autonomic-neuropathy-based-on-short-term-heart-rate-variability-using-bayesian-methods-preliminary-analysis
#15
Jun Chen, Shuang-Bin Yang, Juanmei Liu, Zi-Hui Tang
[This corrects the article DOI: 10.1186/s13098-015-0070-z.].
2017: Diabetology & Metabolic Syndrome
https://www.readbyqxmd.com/read/28226649/heart-rate-independent-qt-variability-component-can-detect-subclinical-cardiac-autonomic-neuropathy-in-diabetes
#16
Mohammad H Imam, Chandan K Karmakar, Ahsan H Khandoker, Herbert F Jelinek, M Palaniswami, Mohammad H Imam, Chandan K Karmakar, Ahsan H Khandoker, Herbert F Jelinek, M Palaniswami, Ahsan H Khandoker, Herbert F Jelinek, Chandan K Karmakar, Mohammad H Imam, M Palaniswami
Cardiac autonomic neuropathy (CAN) may lead to life threatening arrhythmia due to denervation of both the parasympathetic and sympathetic branches of autonomic nervous system innervating the heart. CAN is a frequently under diagnosed complication of diabetes, because a patient can have asymptomatic CAN for several years before it is clinically apparent. However, detection of CAN at the early or subclinical stage leads to more effective treatment outcomes. Cardiac autonomic reflex tests (CART) (i.e. Ewing test battery) are normally used for the detection and staging of CAN...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28224126/antioxidant-effects-of-the-quercetin-in-the-jejunal-myenteric-innervation-of-diabetic-rats
#17
Sara R Garcia de Souza, Marcílio Hubner de Miranda Neto, Juliana Vanessa Colombo Martins Perles, Flávia Cristina Vieira Frez, Isabela Zignani, Francielle Veiga Ramalho, Catchia Hermes-Uliana, Gleison Daion Piovezana Bossolani, Jacqueline Nelisis Zanoni
PURPOSE: Enteric glial cells (EGCs) exert a critical role in the structural integrity, defense, and metabolic function of enteric neurons. Diabetes mellitus is a chronic disease characterized by metabolic disorders and chronic autonomic neuropathy. Quercetin supplementation, which is a potent antioxidant, has been used in order to reduce the effects of diabetes-induced oxidative stress. The purpose of this research was to investigate the effects of quercetin supplementation in the drinking water at a daily dose of 40 mg on the glial cells and neurons in the jejunum of diabetic rats...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/28216073/autoimmune-neuropathies-associated-to-rheumatic-diseases
#18
REVIEW
Alberto R M Martinez, Ingrid Faber, Anamarli Nucci, Simone Appenzeller, Marcondes C França
Systemic manifestations are frequent in autoimmune rheumatic diseases and include peripheral nervous system damage. Neuron cell body, axons and myelin sheath may all be affected in this context. This involvement results in severe and sometimes disabling symptoms. Sensory, motor and autonomic features may be present in different patterns that emerge as peculiar clinical pictures. Prompt recognition of these neuropathies is pivotal to guide treatment and reduce the risks of long term disability. In this review, we aim to describe the main immune-mediated neuropathies associated to rheumatic diseases: sensory neuronopathies, multiple mononeuropathies and chronic inflammatory demyelinating polyradiculoneuropathy, with an emphasis on clinical features and therapeutic options...
February 12, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28213160/molecular-pathogenesis-of-peripheral-neuropathies-insights-from-drosophila-models
#19
REVIEW
Julia Bussmann, Erik Storkebaum
Peripheral neuropathies are characterized by degeneration of peripheral motor, sensory and/or autonomic axons, leading to progressive distal muscle weakness, sensory deficits and/or autonomic dysfunction. Acquired peripheral neuropathies, e.g., as a side effect of chemotherapy, are distinguished from inherited peripheral neuropathies (IPNs). Drosophila models for chemotherapy-induced peripheral neuropathy and several IPNs have provided novel insight into the molecular mechanisms underlying axonal degeneration...
February 14, 2017: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/28209736/pejvakin-a-candidate-stereociliary-rootlet-protein-regulates-hair-cell-function-in-a-cell-autonomous-manner
#20
Marcin Kazmierczak, Piotr Kazmierczak, Anthony W Peng, Suzan L Harris, Prahar Shah, Jean-Luc Puel, Marc Lenoir, Santos J Franco, Martin Schwander
Mutations in the Pejvakin (PJVK) gene are thought to cause auditory neuropathy and hearing loss of cochlear origin by affecting noise-induced peroxisome proliferation in auditory hair cells and neurons. Here we demonstrate that loss of pejvakin in hair cells, but not in neurons, causes profound hearing loss and outer hair cell degeneration in mice. Pejvakin binds to and co-localizes with the rootlet component TRIOBP at the base of stereocilia in injectoporated hair cells, a pattern that is disrupted by deafness-associated PJVK mutations...
February 16, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
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