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Sample records for sensory neuropathy type

  1. Hereditary sensory neuropathy type I

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    Auer-Grumbach Michaela

    2008-03-01

    Full Text Available Abstract Hereditary sensory neuropathy type I (HSN I is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. The exact prevalence is unknown, but is estimated as very low. Disease onset varies between the 2nd and 5th decade of life. The main clinical feature of HSN I is the reduction of sensation sense mainly distributed to the distal parts of the upper and lower limbs. Variable distal muscle weakness and wasting, and chronic skin ulcers are characteristic. Autonomic features (usually sweating disturbances are invariably observed. Serious and common complications are spontaneous fractures, osteomyelitis and necrosis, as well as neuropathic arthropathy which may even necessitate amputations. Some patients suffer from severe pain attacks. Hypacusis or deafness, or cough and gastrooesophageal reflux have been observed in rare cases. HSN I is a genetically heterogenous condition with three loci and mutations in two genes (SPTLC1 and RAB7 identified so far. Diagnosis is based on the clinical observation and is supported by a family history. Nerve conduction studies confirm a sensory and motor neuropathy predominantly affecting the lower limbs. Radiological studies, including magnetic resonance imaging, are useful when bone infections or necrosis are suspected. Definitive diagnosis is based on the detection of mutations by direct sequencing of the SPTLC1 and RAB7 genes. Correct clinical assessment and genetic confirmation of the diagnosis are important for appropriate genetic counselling and prognosis. Differential diagnosis includes the other hereditary sensory and autonomic neuropathies (HSAN, especially HSAN II, as well as diabetic foot syndrome, alcoholic neuropathy, neuropathies caused by other neurotoxins/drugs, immune mediated neuropathy, amyloidosis, spinal cord diseases, tabes dorsalis, lepra

  2. Genetics Home Reference: hereditary sensory and autonomic neuropathy type II

    Science.gov (United States)

    ... is found in the cells of the nervous system, including sensory neurons. The mutations involved in HSAN2A result in ... Samuels M, Rouleau GA. Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. J Clin Invest. 2008 Jul; ...

  3. Uncovering sensory axonal dysfunction in asymptomatic type 2 diabetic neuropathy.

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    Jia-Ying Sung

    Full Text Available This study investigated sensory and motor nerve excitability properties to elucidate the development of diabetic neuropathy. A total of 109 type 2 diabetes patients were recruited, and 106 were analyzed. According to neuropathy severity, patients were categorized into G0, G1, and G2+3 groups using the total neuropathy score-reduced (TNSr. Patients in the G0 group were asymptomatic and had a TNSr score of 0. Sensory and motor nerve excitability data from diabetic patients were compared with data from 33 healthy controls. Clinical assessment, nerve conduction studies, and sensory and motor nerve excitability testing data were analyzed to determine axonal dysfunction in diabetic neuropathy. In the G0 group, sensory excitability testing revealed increased stimulus for the 50% sensory nerve action potential (P<0.05, shortened strength-duration time constant (P<0.01, increased superexcitability (P<0.01, decreased subexcitability (P<0.05, decreased accommodation to depolarizing current (P<0.01, and a trend of decreased accommodation to hyperpolarizing current in threshold electrotonus. All the changes progressed into G1 (TNSr 1-8 and G2+3 (TNSr 9-24 groups. In contrast, motor excitability only had significantly increased stimulus for the 50% compound motor nerve action potential (P<0.01 in the G0 group. This study revealed that the development of axonal dysfunction in sensory axons occurred prior to and in a different fashion from motor axons. Additionally, sensory nerve excitability tests can detect axonal dysfunction even in asymptomatic patients. These insights further our understanding of diabetic neuropathy and enable the early detection of sensory axonal abnormalities, which may provide a basis for neuroprotective therapeutic approaches.

  4. Genetics Home Reference: hereditary sensory neuropathy type IA

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    ... Houlden H, King R, Blake J, Groves M, Love S, Woodward C, Hammans S, Nicoll J, Lennox G, O'Donovan DG, Gabriel C, Thomas PK, Reilly MM. Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). Brain. 2006 Feb;129(Pt 2):411-25. Epub ...

  5. Frequency of sensory motor neuropathy in type 2 diabetics

    International Nuclear Information System (INIS)

    Ather, N.A.; Sattar, R.A.; Ara, J.

    2008-01-01

    To determine the frequency of sensory motor neuropathy in type 2 diabetics at the time of presentation to the hospital. The study was conducted at Medical Unit-1, Jinnah Postgraduate Medical Center, Karachi, from November 2005 to April 2006. Patients of different ages and either gender with history of confirmed diabetes for ten years and above, on regular follow up were included. Those with non-diabetic causes of hyperglycemia or neuropathy were excluded. Relevant features like age, gender, treatment, symptoms , signs, nerve conduction study (NCS) results, duration of Diabetes mellitus (DM), fasting blood sugar (FBS) and serum values of glycosylated hemoglobin (HB1Ac) were recorded. Out of a total of 300 patients, there were 111 female and 189 male patients. Mean age was 58 +- 11.23 years. Mean duration of diabetes was 13.6+-5.48 years. One hundred and twenty three patients had symptoms of neuropathy. Clinical examination revealed mixed sensory and motor signs in 135 (45%) patients. Nerve conduction studies revealed abnormalities in 159 (53%) patients. Among patients having an abnormal NCS, the fasting blood glucose (FBS) was 120mg/dl in 147 (91%) patients. The glycosylated hemoglobin ranged from 4-15% with mean of 8.1% and standard deviation of 2.5%. This showed significant association (p <0.001) of peripheral neuropathy with abnormal FBS, HB1Ac and duration of diabetes. NCS diagnosed the neuropathy in more than half of the total number of patients, including both symptomatic and asymptomatic patients. Majority of the patients revealed symmetrical and a mixed type (motor and sensory) polyneuropathy. This shows that nerve conduction may not be concordant with the clinical signs and symptoms. NCS detects neuropathy much earlier, before it becomes evident clinically. The neuropathy is associated with abonromal fasting blood sugar, HBIAC and duration of diabetes. (author)

  6. Cardiac arrest after anesthetic management in a patient with hereditary sensory autonomic neuropathy type IV

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    Ergül Yakup

    2011-01-01

    Full Text Available Hereditary sensory autonomic neuropathy type IV is a rare disorder with an autosomal recessive transmission and characterized by self-mutilation due to a lack in pain and heat sensation. Recurrent hyperpyrexia and anhydrosis are seen in patients as a result of a lack of sweat gland innervation. Self-mutilation and insensitivity to pain result in orthopedic complications and patients undergone recurrent surgical interventions with anesthesia. However, these patients are prone to perioperative complications such as hyperthermia, hypothermia, and cardiac complications like bradycardia and hypotension. We report a 5-year-old boy with hereditary sensory autonomic neuropathy type IV, developing hyperpyrexia and cardiac arrest after anesthesia.

  7. Prevalence of Sensory Neuropathy in Type 2 Diabetes Mellitus and Its Correlation with Duration of Disease.

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    Karki, D B; Yadava, S K; Pant, S; Thusa, N; Dangol, E; Ghimire, S

    2016-01-01

    Background Peripheral neuropathy is one of the most common and distressing late complication of diabetes mellitus. Ignorance of the complications may develop foot ulcers and gangrene requiring amputation. Objective The main objective of this study is to find out the prevalence of sensory neuropathy in type 2 diabetes mellitus and to compare it with the duration of disease. Method Two hundred seventy one patients with type 2 diabetes mellitus of both gender age 30 years and above willing to participate were included in this study. Patients having hypothyroidism, rheumatoid arthritis, B12 deficiency, cerebrovascular disease, chronic musculoskeletal disease, Parkinson's disease, alcohol abuse, chronic renal or liver failure and cancer were excluded from the study. Touch, pin prick and vibration sensation were tested. Vibration perception threshold was recorded from six different sites of the sole of each foot using Biothesiometer. Result Two hundreds seventy one type 2 diabetic outpatients were studied. The mean age was 59.81±22.85 years. The overall prevalence of diabetic sensory neuropathy in the study population was 58.70%. A rising trend of diabetic sensory neuropathy with increasing age and duration of diabetes was observed. Neuropathy was found more in patients having urinary microalbuminuria. Burning and pins and needles sensation were most common symptoms. Conclusion The overall prevalence of diabetic sensory neuropathy in the study population was 58.70% (mean age 59.81±22.85 yrs), and its prevalence increased with duration of diabetes and increasing age. Its prevalence was found more in patients having microalbuminuria.

  8. Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, Type 2B

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    Vance, J.M.; Speer, M.C.; Stajich, J.M. [Duke Univ. Medical Center, Durham, NC (United States)

    1996-07-01

    Recently Kwon et al. published in the Journal their work describing linkage of a single large family with an inherited axonal neuropathy to chromosome 3, which they suggest is a second locus for Charcot-Marie-Tooth (CMT) type 2 and subsequently named {open_quotes}CMT2B.{close_quotes} We think that the diagnostic classification of this family as CMT2 is incorrect, since the subjects have a severe sensory neuropathy that fits within the hereditary sensory and autonomic neuropathy (HSAN) type 1 classification of Dyck (1993). Abnormal sensory findings in CMT2 separate it from distal spinal muscular atrophy but are a minor component of clinical symptoms in most CMT patients, as CMT is primarily a motor neuropathy. When Kwon et al. state that {open_quotes}all [patients] had characteristic findings in their physical examinations, including... evidence of foot sores that were slow to heal, or amputated limbs related to the poorly healing foot ulcers,{close_quotes} it suggests that a different diagnosis is more appropriate. In our experience collecting data on >950 individuals in >60 CMT1, CMT2, CMTX and CMT4 families, we have not seen foot ulcers, osteomyelitis, or amputations. Ulcerations leading to osteomyelitis and amputations are usually associated with severe sensory neuropathies. 16 refs., 1 tab.

  9. Quantitative sensory testing in type 1 diabetic patients with painful and painless diabetic neuropathy

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    Ahmed T Alahmar

    2016-09-01

    Full Text Available The mechanism underlying the development of painful diabetic neuropathy (DN is unknown. The aim of this study was to compare quantitative sensory testing (QST characteristics of patients with painful and painless DN and to correlate QST measures with DN pain. Fifty type 1 diabetic patients with DN (30 with painful DN and 20 with painless DN and 32 age-matched non-diabetic controls were included in this study. For all patients and controls, a detailed assessment of DN was performed which comprised McGill visual analogue scale (McGill VAS for pain, neuropathy symptom profile and neuropathy disability score (NDS, quantitative sensory testing in form of cold, warm and vibration perception thresholds, nerve conduction studies (NCS, deep-breathing hear rate variability and Neuropad staining scores. Measures of QST, NCS and DB-HRV were correlated with McGill VAS for pain. There were no significant differences in cold, warm and vibration perception thresholds, NCS, DB-HRV and Neuropad scores between patients with painful and painless DN. Cold (r=-0.57, P=0.005, warm (r=0.47, P=0.026 and DB-HRV (r=0.50, P=0.023, however, correlated significantly with McGill VAS scores of pain. In conclusion, Quantitative sensory testing is a helpful tool to identify small nerve fibres damage of DN, correlates with pain intensity but cannot differentiate between painful and painless DN. Both central and peripheral neural injury could be implicated in the genesis of DN pain. [Dis Mol Med 2016; 4(3.000: 24-30

  10. Hereditary sensory and autonomic neuropathy type V: Report of a rare case

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    Ritesh Kalaskar

    2015-01-01

    Full Text Available Hereditary sensory and autonomic neuropathy (HSAN type V is a rare inherited disease caused by a mutation in the neurotrophic tyrosine kinase receptor, type 1 gene located on chromosome 1 (1q21-q22. It is characterized by pain insensitivity, partial anhydrosis without mental retardation and unimpaired touch and pressure sensitivity. Self-mutilation injury involving the teeth, lips, tongue, ears, eyes, nose, and fingers are invariable feature of this disorder. The purpose of this paper was to discuss the diagnosis and oral management of 18-month-old girl with HSAN type V, having typical oral manifestation of bitten tongue and auto-extraction of primary teeth. Modified bite guard was given to the patient to prevent further self-mutilating injuries to the tongue.

  11. A new type of hereditary motor and sensory neuropathy linked to chromosome 3.

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    Takashima, H; Nakagawa, M; Nakahara, K; Suehara, M; Matsuzaki, T; Higuchi, I; Higa, H; Arimura, K; Iwamasa, T; Izumo, S; Osame, M

    1997-06-01

    We report the clinical, pathological, and genetic findings of 23 patients in 8 families with hereditary motor and sensory neuropathy (proximal dominant form) (HMSN-P) in Okinawa, Japan. The clinical features were unique with respect to autosomal dominant inheritance, Kennedy-Alter-Sung syndrome-like proximal dominant neurogenic atrophy, obvious sensory involvement, painful muscle cramp, fasciculations, areflexia, and high incidences of elevated creatine kinase levels, hyperlipidemia, and diabetes mellitus. Electrophysiological and pathological studies revealed typical motor and sensory axonal neuropathy, and decreased numbers of anterior born and dorsal ganglion cells, which suggested the presence of neuronopathy in HMSN-P. Genetic linkage studies showed a lod score of 4.04 (two-point analysis) in DNA marker D3S1284. Haplotype analysis showed that the gene locus of the disease was mapped to 3p14.1-q13 bracketed by D3S1285 and D3S1281. In this region, the patients' chromosomes showed an obvious increase in the allele frequency of five markers. One allele in D3S1591 was identical in all patients but had a low frequency in the control population. This finding suggested the presence of linkage disequilibrium and a common origin of this allele in all patients with HMSN-P. The HMSN-P described here is a new clinical entity characterized by unique clinical manifestations and a new gene locus.

  12. Plasma osteoprotegerin concentrations in peripheral sensory neuropathy in Type 1 and Type 2 diabetic patients

    DEFF Research Database (Denmark)

    Nybo, M; Poulsen, M K; Grauslund, J

    2010-01-01

    Osteoprotegerin (OPG) has been linked to different diabetes complications, including cardiovascular disease, and new findings have indicated a specific role in diabetic peripheral neuropathy, but the exact mechanism is unknown. To investigate a possible association between OPG and diabetic...

  13. [A case of hereditary sensory and autonomic neuropathy type 1E with frontal lobe dysfunction as an initial symptom].

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    Watanabe, Masashi; Matsumoto, Yushi; Okamoto, Kensho; Okuda, Bungo; Mizuta, Ikuko; Mizuno, Toshiki

    2017-12-27

    A 49-year-old man had developed gradually personality change, gait disturbance, and hearing loss for five years. On admission, he presented with frontal release signs, stuttering, vertical gaze palsy, sensorineural deafness, muscle rigidity, ataxia, and sensory disturbance with areflexia in the lower extremities. Brain MRI demonstrated atrophy in the cerebellum and midbrain tegmentum as well as cerebral atrophy, predominantly in the frontal lobe. He was tentatively diagnosed as progressive supranuclear palsy on the basis of clinical features and imagings. On nerve conduction study, no sensory nerve action potentials were elicited in the upper and lower extremities. Details of family history revealed a hereditary sensory neuropathy with autosomal dominant inheritance in his relatives. Because genetic analysis showed a rare missense mutation (c.1483T>C, p.Y495H) in DNA methyltransferase 1 gene, we diagnosed him as having hereditary sensory and autonomic neuropathy type 1E (HSAN1E). In addition, p.M232R mutation in prion protein gene was detected. It should be kept in mind that there are some patients with HSAN1E presenting with frontal lobe dysfunction as an initial symptom and with clinical features mimicking progressive supranuclear palsy.

  14. Sensory neuropathy in two Border collie puppies.

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    Vermeersch, K; Van Ham, L; Braund, K G; Bhatti, S; Tshamala, M; Chiers, K; Schrauwen, E

    2005-06-01

    A peripheral sensory neuropathy was diagnosed in two Border collie puppies. Neurological, electrophysiological and histopathological examinations suggested a purely sensory neuropathy with mainly distal involvement. Urinary incontinence was observed in one of the puppies and histological examination of the vagus nerve revealed degenerative changes. An inherited disorder was suspected.

  15. Sensory Functions, Balance, and Mobility in Older Adults With Type 2 Diabetes Without Overt Diabetic Peripheral Neuropathy: A Brief Report.

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    Deshpande, Nandini; Hewston, Patricia; Aldred, Alison

    2017-08-01

    This study examined possible subtle degradation in sensory functions, balance, and mobility in older adults with type 2 diabetes (T2D) prior to overt development of diabetic peripheral neuropathy (DPN). Twenty-five healthy controls (HC group, age = 74.6 ± 5.4) and 35 T2D elderly without DPN (T2D group, age = 70.6 ± 4.7) were recruited. Sensory assessment included vibrotactile sensitivity, bilateral caloric weakness, and visual contrast sensitivity. Self-report measures comprised of Activity-Specific Balance Confidence (ABC), Human Activity Profile-adjusted activity scores (HAP-AAS), falls, and mobility disability. Performance measures included modified Timed-Up and Go (mTUG), Clinical Test of Sensory Integration for Balance (mCTSIB), and Frailty and Injuries (FICSIT-4) balance test. T2D group demonstrated significantly worse bilateral caloric weakness, marginally higher threshold of vibrotactile sensitivity and lower visual contrast sensitivity, and as well as signifcantly lower HAP-AAS. A significantly higher proportion of the T2D group failed mCTSIB Condition 4 than in the HC group. Subtle changes in multiple sensory systems of older adults with T2D may reduce redundancy available for balance control while performing challenging activities much before DPN development.

  16. Manual dexterity in hereditary motor and sensory neuropathy type 1a: severity of limitations and feasibility and reliability of two assessment instruments

    NARCIS (Netherlands)

    Videler, Annemieke J.; Beelen, Anita; van Schaik, Ivo N.; de Visser, Marianne; Nollet, Frans

    2008-01-01

    OBJECTIVE: To assess the prevalence and significance of impaired manual dexterity in hereditary motor and sensory neuropathy type 1a (HMSN 1a), with the Sollerman hand function and the Functional Dexterity test, and compare the reliability and agreement of the tests. DESIGN: Descriptive

  17. A familial case of segregation of motor sensory neuropathy type 1B with multiple exostoses in monozygous twins

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    V. P. Fedotov

    2015-01-01

    Full Text Available Hereditary motor-sensory neuropathy (MIM 118200 is a rare genetic variant of myelinopathy with autosomal-dominant type of inheritance. Multiple exostosis bones are signs of multiple exostoses chondrodysplasia, genetically heterogeneous form of systemic bone disease with an autosomal dominant mode of inheritance. The combination of two rare autosomal dominant diseases, affecting bone and peripheral nervous system in a pair of monozygotic twins and their father in one family, belongs to a unique clinical observations: since early childhood twins presented sharp reduction of the conduction velocity in all investigated motor nerves (>10 times together with multiple exostosis bone, confirmed by x-ray with a relatively benign course. Similar manifestations were detected in the patients father. DNA analysis confirmed the presence of 2 separate mutations in 2 different genes, с.389А>G/N gene MPZ and c.678С>А/N EXT2 gene that was inherited autosomal dominant manner, independently of each members of the same family.

  18. Peroneal muscular atrophy with pyramidal tract features (hereditary motor and sensory neuropathy type V): a clinical, neurophysiological, and pathological study of a large kindred.

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    Frith, J A; McLeod, J G; Nicholson, G A; Yang, F

    1994-01-01

    A large family with autosomal dominant inheritance of peroneal muscular atrophy, associated with extensor plantar responses in some cases, has been studied. Onset was usually in the first two decades and spasticity was not a feature. Nerve conduction studies in 21 cases and light and electron microscope findings on six sural nerve biopsies were similar to those in hereditary motor and sensory neuropathy type II.

  19. Calf enlargement in hereditary motor and sensory neuropathy

    NARCIS (Netherlands)

    de Visser, M.; Hoogendijk, J. E.; Ongerboer, B. W.; Verbeeten, B. J.

    1990-01-01

    Six members originating from two families with hereditary motor and sensory neuropathy (hypertrophic and neuronal types) were noted to have enlarged calf muscles. Muscle computed tomography revealed that muscle enlargement in the propositus of the family with the hypertrophic type of HMSN was due to

  20. Additional Types of Neuropathy

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    ... stop bone destruction and aid healing. Cranial Neuropathy Cranial neuropathy affects the 12 pairs of nerves that are connected with the brain and control sight, eye movement, hearing, and taste. Most often, cranial neuropathy affects the nerves that control the eye ...

  1. Hereditary Neuropathies

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    ... and autonomic neuropathy. The most common type is Charcot-Marie-Tooth disease, one of the hereditary motor and sensory ... and autonomic neuropathy. The most common type is Charcot-Marie-Tooth disease, one of the hereditary motor and sensory ...

  2. Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature.

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    Elhennawy, Karim; Reda, Seif; Finke, Christian; Graul-Neumann, Luitgard; Jost-Brinkmann, Paul-Georg; Bartzela, Theodosia

    2017-08-15

    Hereditary sensory and autonomic neuropathy type VIII is a rare autosomal recessive inherited disorder. Chen et al. recently identified the causative gene and characterized biallelic mutations in the PR domain-containing protein 12 gene, which plays a role in the development of pain-sensing nerve cells. Our patient's family was included in Chen and colleagues' study. We performed a literature review of the PubMed library (January 1985 to December 2016) on hereditary sensory and autonomic neuropathy type I to VIII genetic disorders and their orofacial manifestations. This case report is the first to describe the oral manifestations, and their treatment, of the recently discovered hereditary sensory and autonomic neuropathy type VIII in the medical and dental literature. We report on the oral manifestations and dental management of an 8-month-old white boy with hereditary sensory and autonomic neuropathy-VIII over a period of 16 years. Our patient was homozygous for a mutation of PR domain-containing protein 12 gene and was characterized by insensitivity to pain and thermal stimuli, self-mutilation behavior, reduced sweat and tear production, absence of corneal reflexes, and multiple skin and bone infections. Oral manifestations included premature loss of teeth, associated with dental traumata and self-mutilation, severe soft tissue injuries, dental caries and submucosal abscesses, hypomineralization of primary teeth, and mandibular osteomyelitis. The lack of scientific knowledge on hereditary sensory and autonomic neuropathy due to the rarity of the disease often results in a delay in diagnosis, which is of substantial importance for the prevention of many complications and symptoms. Interdisciplinary work of specialized medical and dental teams and development of a standardized treatment protocols are essential for the management of the disease. There are many knowledge gaps concerning the management of patients with hereditary sensory and autonomic neuropathy

  3. Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates.

    Science.gov (United States)

    Lafreniere, Ronald G; MacDonald, Marcia L E; Dube, Marie-Pierre; MacFarlane, Julie; O'Driscoll, Mary; Brais, Bernard; Meilleur, Sebastien; Brinkman, Ryan R; Dadivas, Owen; Pape, Terry; Platon, Christele; Radomski, Chris; Risler, Jenni; Thompson, Jay; Guerra-Escobio, Ana-Maria; Davar, Gudarz; Breakefield, Xandra O; Pimstone, Simon N; Green, Roger; Pryse-Phillips, William; Goldberg, Y Paul; Younghusband, H Banfield; Hayden, Michael R; Sherrington, Robin; Rouleau, Guy A; Samuels, Mark E

    2004-05-01

    Hereditary sensory and autonomic neuropathy (HSAN) type II is an autosomal recessive disorder characterized by impairment of pain, temperature, and touch sensation owing to reduction or absence of peripheral sensory neurons. We identified two large pedigrees segregating the disorder in an isolated population living in Newfoundland and performed a 5-cM genome scan. Linkage analysis identified a locus mapping to 12p13.33 with a maximum LOD score of 8.4. Haplotype sharing defined a candidate interval of 1.06 Mb containing all or part of seven annotated genes, sequencing of which failed to detect causative mutations. Comparative genomics revealed a conserved ORF corresponding to a novel gene in which we found three different truncating mutations among five families including patients from rural Quebec and Nova Scotia. This gene, termed "HSN2," consists of a single exon located within intron 8 of the PRKWNK1 gene and is transcribed from the same strand. The HSN2 protein may play a role in the development and/or maintenance of peripheral sensory neurons or their supporting Schwann cells.

  4. [Hereditary ataxia and sensory-motor neuropathy].

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    Miladinović, Ksenija; Hodzić, Samiha; Zjuzin, Nadezda; Lokmic, Eldan

    2003-01-01

    The authors presented this case because of the determined characteristics in the clinical picture and electrophysiologic finding which refer to spinocerebral degeneration and neuropathia of the hereditary type, and give the possibility of the classification into two nosologic entities. One is Roussey Levy's syndrome, what is the advisable diagnosis of our patient, and another Freidreich's ataxia. Regardless to the impossibility of the establishing of diagnosis by means the specific enzimatic and genetic tests, the authors on the basis of the clinical picture, electromioncurographic findings and data from the literature of the diagnostic ally decided for Freidreich's ataxya. The neuropathy have classified into the hereditary motor sensor neuropathy--HMSN type II and presented its characteristics.

  5. Salvage procedures in lower-extremity trauma in a child with hereditary motor and sensory neuropathy type I: a case report

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    Gothner Martin

    2012-09-01

    Full Text Available Abstract Introduction Fractures of the lower extremity are a common type of childhood injury and many can be treated without surgery. Dislocated and open fractures are an indication for fracture stabilization via either intramedullary nailing or, in the case of complicated fractures, external fixation. But if complications are likely because of diseases and disabilities (for example, a neuropathy that can complicate the post-operative procedure and rehabilitation, what options does one have? Case presentation We report a nine-year-old Caucasian girl who had hereditary motor and sensory neuropathy type I and who was admitted with a grade I open tibia fracture after a fall from a small height. Plain radiographs showed a dislocated tibia and fibula fracture. An open reduction with internal fixation with a compression plate osteosynthesis was performed, and soft tissue debridement combined with an external fixateur was undertaken. Three months later, she was re-admitted with localized swelling and signs of a local soft tissue infection in the middle of her tibia. Plain radiographs showed a non-union of the tibia fracture, and microbiological analysis confirmed a wound infection with cefuroxime-sensitive Staphylococcus aureus. Because of the non-union, the osteosynthesis was replaced with an Ilizarov external fixateur, and appropriate antibiotic therapy was initiated. Four months after the initial accident, the fracture was consolidated and we removed the external fixateur. Conclusions If there is a pre-existing neuropathy and if disease makes it difficult for a child to follow all post-operative instructions, salvage procedures should be kept in mind in case of complications. There are multiple therapeutic options, including osteosynthesis, intramedullary nailing systems, cast therapy, or an external fixateur like the Ilizarov or Taylor spatial frame system. The initial use of an external fixateur such as an Ilizarov or Taylor spatial frame in

  6. Carriers of Recessive WNK1/HSN2 Mutations for Hereditary Sensory and Autonomic Neuropathy Type 2 (HSAN2) Are More Sensitive to Thermal Stimuli

    Science.gov (United States)

    Loggia, Marco L.; Bushnell, M. Catherine; Tétreault, Martine; Thiffault, Isabelle; Bhérer, Claude; Mohammed, Nazma K.; Kuchinad, Anil A.; Laferrière, Audrey; Dicaire, Marie-Josée; Loisel, Lina; Mogil, Jeffrey S.; Brais, Bernard

    2009-01-01

    Hereditary sensory and autonomic neuropathy type 2 (HSAN2) is a rare recessive genetic disorder characterized by severe sensory loss affecting the tactile, thermal and nociceptive modalities. Although heterozygous carriers of nonsense mutations in the HSN2 gene, called with-no-lysine(K)-1 (WNK1), do not develop the disease, historical and experimental evidence suggests that these individuals might perceive somatosensory stimuli differently from others. Using the method-of-limits, we assessed the thresholds for warmth detection, cool detection, heat pain and cold pain in 25 mutation carriers and 35 controls. In group analyses, carriers displayed significantly lower warmth (p cool (p cool stimuli (p = 0.11). Furthermore, the differences between the warmth detection thresholds of the carriers and those of gender- and sex-matched wild types significantly increased with age (r = 0.76, p = 0.02), and in carriers cool detection thresholds did not increase with age (r = 0.27, p = 0.24) as expected and observed in controls (r = 0.34, p = 0.05). This study demonstrates that the carriers of a recessive mutation for HSAN2 display greater sensitivity to innocuous thermal stimuli, as well as for cold pain, suggesting a possible environmental adaptive advantage of the heterozygous state. PMID:19228968

  7. Psychiatric disorders appear equally in patients with myotonic dystrophy, facioscapulohumeral dystrophy, and hereditary motor and sensory neuropathy type I.

    NARCIS (Netherlands)

    Kalkman, J.S.; Schillings, M.L.; Zwarts, M.J.; Engelen, B.G.M. van; Bleijenberg, G.

    2007-01-01

    OBJECTIVES: To study the presence of psychiatric comorbidity assessed by the use of a structured clinical interview and self-reported questionnaires in a large sample of patients with adult-onset myotonic dystrophy (DM), facioscapulohumeral muscular dystrophy (FSHD), and hereditary motor and sensory

  8. Assessment of sensory neuropathy in patients with diabetic foot problems

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    Aziz Nather

    2011-06-01

    Full Text Available Our aim of this study was to compare the accuracy of three different modalities for testing sensory neuropathy in diabetic patients with and without diabetic foot problems. The three devices used included the pin-prick testing using the Neurotip® (PPT, the Semmes–Weinstein 5.07/10 g monofilament testing (SWMT, and the rapid-current perception threshold (R-CPT measurements using the Neurometer® testing. Our study population consisted of 54 patients (108 feet with diabetic foot problems treated at the National University Hospital in Singapore by our multi-disciplinary diabetic foot care team. Our results showed no difference in sensory neuropathy detected by PPT and 5.07/10 g SWMT in both the pathological and normal foot. In the pathological foot, there was significant increase in sensory neuropathy detected by the Neurometer® device at both the big toe and ankle sites as compared to PPT and 5.07/10 g SWMT. In the normal foot, there was a significant increase in sensory neuropathy detected by the Neurometer® device at the big toe site only as compared to PPT and 5.07/10 g SWMT. Finally, the Neurometer® measurements detected a statistically higher proportion of feet with sensory neuropathy as compared to detection by the PPT or 5.07/10 g SWMT.

  9. Sensory and motor neuropathy in a Border Collie.

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    Harkin, Kenneth R; Cash, Walter C; Shelton, G Diane

    2005-10-15

    A 5-month-old female Border Collie was evaluated because of progressive hind limb ataxia. The predominant clinical findings suggested a sensory neuropathy. Sensory nerve conduction velocity was absent in the tibial, common peroneal, and radial nerves and was decreased in the ulnar nerve; motor nerve conduction velocity was decreased in the tibial, common peroneal, and ulnar nerves. Histologic examination of nerve biopsy specimens revealed considerable nerve fiber depletion; some tissue sections had myelin ovoids, foamy macrophages, and axonal degeneration in remaining fibers. Marked depletion of most myelinated fibers within the peroneal nerve (a mixed sensory and motor nerve) supported the electrodiagnostic findings indicative of sensorimotor neuropathy. Progressive deterioration in motor function occurred over the following 19 months until the dog was euthanatized. A hereditary link was not established, but a littermate was similarly affected. The hereditary characteristic of this disease requires further investigation.

  10. Sympathetic skin response in acute sensory ataxic neuropathy.

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    Arunodaya, G R; Taly, A B; Swamy, H S

    1995-05-01

    Sympathetic skin response (SSR) is a recently described objective method of studying sudomotor sympathetic nerve function and has been studied in a variety of peripheral neuropathies. We report SSR changes in nine patients with acute sensory ataxic neuropathy (ASAN). All had severe sensory and mild motor nerve conduction abnormalities; five had dysautonomia. SSR, elicited by electric shock and cough stimuli, was absent in three patients. Latency was normal in all when SSR was present. Two patients had SSR amplitude of 0.2 mV or less. Absence of SSR did not correlate with dysautonomia, absence of sensory nerve action potential or motor nerve conduction abnormalities. Follow up SSR studies revealed return of absent SSR in one patient over a period of 3 months, despite persistence of ataxia. To our knowledge, this is the first report of SSR changes in ASAN.

  11. Clinical and neurophysiologic characterization of an European family with hereditary sensory neuropathy, paroxysmal cough and gastroesophageal reflux

    Directory of Open Access Journals (Sweden)

    Pedro Barros

    2014-04-01

    Full Text Available In 2002, Spring et al reported a family with an autosomal dominant form of hereditary sensory neuropathy; patients also presented adult onset of gastroesophageal reflux and cough. Since then, no further families have been described. Objective: To study a new Portuguese family with these characteristics. Method: To describe the clinical and neurophysiologic characteristics of one family with features of sensory neuropathy associated with cough and gastroesophageal erflux. Results: Three of five siblings presented a similar history of paroxysmal cough (5th decade. About a decade later they experienced numbness and paraesthesia in the feets and in all cases there was evidence of an axonal sensory neuropathy. A history of gastroesophageal reflux of variable severity and age of onset was also present. Discussion: Molecular genetic studies have demonstrated genetic heterogeneity between the hereditary sensory neuropathy type 1 subtypes. The identification of these families is of major importance because further work is required to identify the underlying genetic defect.

  12. Nicotinamide Riboside Opposes Type 2 Diabetes and Neuropathy in Mice.

    Science.gov (United States)

    Trammell, Samuel A J; Weidemann, Benjamin J; Chadda, Ankita; Yorek, Matthew S; Holmes, Amey; Coppey, Lawrence J; Obrosov, Alexander; Kardon, Randy H; Yorek, Mark A; Brenner, Charles

    2016-05-27

    Male C57BL/6J mice raised on high fat diet (HFD) become prediabetic and develop insulin resistance and sensory neuropathy. The same mice given low doses of streptozotocin are a model of type 2 diabetes (T2D), developing hyperglycemia, severe insulin resistance and diabetic peripheral neuropathy involving sensory and motor neurons. Because of suggestions that increased NAD(+) metabolism might address glycemic control and be neuroprotective, we treated prediabetic and T2D mice with nicotinamide riboside (NR) added to HFD. NR improved glucose tolerance, reduced weight gain, liver damage and the development of hepatic steatosis in prediabetic mice while protecting against sensory neuropathy. In T2D mice, NR greatly reduced non-fasting and fasting blood glucose, weight gain and hepatic steatosis while protecting against diabetic neuropathy. The neuroprotective effect of NR could not be explained by glycemic control alone. Corneal confocal microscopy was the most sensitive measure of neurodegeneration. This assay allowed detection of the protective effect of NR on small nerve structures in living mice. Quantitative metabolomics established that hepatic NADP(+) and NADPH levels were significantly degraded in prediabetes and T2D but were largely protected when mice were supplemented with NR. The data justify testing of NR in human models of obesity, T2D and associated neuropathies.

  13. Hereditary neuropathies: systematization and diagnostics (clinical case of hereditary motor and sensor neuropathy of the IA type

    Directory of Open Access Journals (Sweden)

    Kolokolova A.M.

    2016-09-01

    Full Text Available Aim: to study the value of routine methods (clinical symptoms, electrophysiological findings and results of DNA analysis in diagnostics of hereditary motor sensory neuropathy type IA in outpatient clinics. Material and Methods. The review of foreign literature is represented. The phenotypic polymorphism, genetic heterogeneity and the difficulties of diagnostics are identified. A family with hereditary motor sensory neuropathy of lAtype is presented, which was diagnosed on the base of available methods in outpatient practice (clinical symptoms, genealogical method, electro-physiological findings and DNA analysis results. Results. Routine algorithm (consistent valuation of clinical symptoms, neurophysiologic findings and the results of DNA analysis helped to verify the diagnosis of hereditary motor sensory neuropathy of lAtype in outpatient practice after more than 20 years of the onset of the disease. Conclusion. The neurologists of outpatient clinics and other specialists must be informed about the availability of diagnostics of hereditary diseases of nervous system.

  14. [Sensory and autonomic neuropathies and pain-related channelopathies].

    Science.gov (United States)

    Kurth, I

    2015-08-01

    Loss of pain perception can result from neurodevelopmental defects, degeneration of nociceptive fibers, or altered excitability of sensory neurons. Hereditary neurodegeneration leading to pain loss is classified as sensory and autonomic neuropathy (HSAN). Mutations in approximately 15 genes have been identified in the group of HSAN disorders. Hallmark of the disease is a liability to injury because of impaired acute pain as a warning system to prevent harm. The clinically overlapping "congenital insensitivity to pain (CIP)" is caused by mutations in voltage-gated sodium channels, which control the excitability of nociceptors. However, mutations in the latter genes can also result in disorders with increased pain susceptibility. This review summarizes the clinical presentation of HSAN and pain-related channelopathies and discusses the underlying disease mechanisms.

  15. Genetics Home Reference: distal hereditary motor neuropathy, type V

    Science.gov (United States)

    ... Distal hereditary motor neuropathy, type V Distal hereditary motor neuropathy, type V Printable PDF Open All Close All Enable ... link) PubMed OMIM (2 links) NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB Sources ...

  16. Role of nitrosative and oxidative stress in neuropathy in patients with type 2 diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Marwan S Al-Nimer

    2012-01-01

    Full Text Available Objectives : Evidences of oxidative and/or nitrosative stress in type 2 diabetes mellitus were demonstrated in experimental and human studies. This study is aimed to assess the serum peroxynitrite and oxidized lipoproteins in patients with type 2 diabetes mellitus presented with clinical and laboratory evidences of peripheral neuropathy. Materials and Methods : Eighty four patients with type 2 diabetes mellitus (51 of them had neuropathy and 31 apparent healthy subjects were studied in the unit of neurophysiology at the University Hospital of Medical College, Al-Nahrin University in Baghdad, Iraq. Neuropathy total symptom score (NTSS, neuropathy impairment score in the lower leg (NIS-LL, and nerve conduction velocity of sensory (ulnar and sural and motor (ulnar and common peroneal nerves were used to assess the neuropathy. Fasting venous blood was obtained from each participant for the determination of serum glucose and oxidized lipoproteins. Results: The electrophysiology study revealed significant decrease in conduction velocity of ulnar (sensory and motor components, sural, and common peroneal nerves in diabetic neuropathy compared to diabetics without neuropathy and healthy subjects. Significant high level of serum peroxynitrite was found in diabetic patients with or without neuropathy compared with non-diabetics. The changes in serum-oxidized lipoproteins in patients with diabetics with or without neuropathy were non-significantly differed from healthy subjects. Neither nitrosative stress nor oxidative stress indices correlated with the variables that are related to the neuropathy. Conclusion: It concludes that evidence of nitrosative and to less extent the oxidative stress is associated with neuropathy in type 2 diabetes mellitus and their indices not correlated with variables related to neuropathy.

  17. Does Peripheral Neuropathy Associate with Cranial Nerves Neuropathy in Type 2 diabetes Patients?

    Directory of Open Access Journals (Sweden)

    Walaa Fadhil Jalal

    2017-02-01

    Full Text Available Diabetic peripheral neuropathy (DPN is the most common complication of type 2 diabetes mellitus. Cranial neuropathies is usually presenting as mononeuropathies coexist with DPN either presented clinically or in subclinical form. The aim of this study is to detect cranial neuropathy in diabetic patients. Eighty three patients with type 2 diabetes mellitus (T2DM with an age range of 30-69 years were included in the study. The study also involved normal healthy persons whose age and gender are harmonized with that of our patients that were deliberated as control group (60 persons. Diabetic patients with DPN had significant difference in age, highly significant difference in the duration of the disease and highly significance difference in BMI had poor glycemic control reflected by high FBS and HbA1c, while lipid profile picture showed insignificant difference when compared with diabetic patients without DPN. Nerve conduction study (sensory and motor showed a significant difference regarding latency, amplitude, and conduction velocity between diabetic patients with DPN and those without DPN. The results of blink reflex showed highly significant difference between diabetic patients and controls.

  18. Painless ulcers and fissures of toes: Hereditary sensory neuropathy, not leprosy

    Directory of Open Access Journals (Sweden)

    Angoori Gnaneshwar Rao

    2016-01-01

    Full Text Available Hereditary sensory neuropathies (HSN are rare genetically determined neuropathies. They often manifest as painless injuries in children. We present HSN in a 5-year-old boy who presented with recurrent fissuring and ulceration involving both great toes.

  19. Cloning of a novel G-protein-coupled receptor GPR 51 resembling GABAB receptors expressed predominantly in nervous tissues and mapped proximal to the hereditary sensory neuropathy type 1 locus on chromosome 9.

    Science.gov (United States)

    Ng, G Y; McDonald, T; Bonnert, T; Rigby, M; Heavens, R; Whiting, P; Chateauneuf, A; Coulombe, N; Kargman, S; Caskey, T; Evans, J; O'neill, G P; Liu, Q

    1999-03-15

    Query of the expressed sequence tag database with the rat metabotropic GABABR1A receptor amino acid sequence using the TFASTA algorithm revealed two partial cDNA fragments whose sequence information was then used to isolate by PCR a novel full-length human cDNA encoding a putative G-protein-coupled receptor (GPCR), termed GPR 51. Sequence analysis revealed that it encoded a protein of 941 amino acids, similar in size and homology to GABAB receptors followed by metabotropic glutamate receptors but not other GPCRs. GPR 51 expressed in COS-1 cells showed no specific binding for [3H](+)baclofen and when expressed in Xenopus oocyte and Xenopus melanophore functional assays showed no activity to GABA, (-)baclofen, and glutamic acid. Northern blot analysis and in situ hybridization revealed that GPR 51 transcripts were predominantly expressed in the central nervous system with highest abundance in the cortex, thalamus, hippocampus, amygdala, cerebellum, and spinal cord. In contrast, GPR 51 receptor transcripts were almost not detected in the peripheral tissues. Gene GPR 51 was localized by radiation hybrid mapping to chromosome 9, 4.81 cR from the WI-8684 marker, and proximal to the hereditary sensory neuropathy type 1 locus. Copyright 1999 Academic Press.

  20. Diagnostic Accuracy of Clinical Methods for Detection of Diabetic Sensory Neuropathy

    International Nuclear Information System (INIS)

    Arshad, A. R.; Alvi, K. Y.

    2016-01-01

    Objective: To determine the accuracy of clinical methods for detection of sensory neuropathy as compared to biothesiometry. Study Design: Cross-sectional analytical study. Place and Duration of Study: 1 Mountain Medical Battalion, Azad Kashmir, from October 2013 to September 2014. Methodology: Patients with type 2 diabetes were enrolled by convenience sampling. Exclusion criteria included other identifiable causes of neuropathy, extensive ulceration of feet, amputated feet, those on treatment for neuropathy and unwilling patients. Average of 3 vibration perception threshold values measured with a biothesiometer on distal hallux was calculated. Ten gm monofilament was used to examine touch sensation over dorsal surfaces of great toes. Vibration sensation was checked over the tips of great toes using 128Hz tuning fork. Ankle jerks were checked bilaterally. Result: Neuropathy (vibration perception threshold > 25 volts) was present in 34 (21.12 percentage) out of 161 patients and 93 (57.76 percentage) were symptomatic. Measures of diagnostic accuracy for monofilament, tuning fork and ankle jerks were: sensitivity 41.18 percentage, 55.88 percentage and 64.71 percentage; specificity 92.91 percentage, 93.70 percentage and 80.31 percentage; positive predictive value (PPV) 60.87 percentage, 70.37 percentage and 46.81 percentage; negative predictive value (NPV) 85.51 percentage, 88.81 percentage and 89.47 percentage; and, diagnostic accuracy 81.99 percentage, 85.71 percentage and 77.02 percentage, respectively. Values for any 1 positive sign, any 2 positive signs or all 3 positive signs were: sensitivity 35.29 percentage, 14.71 percentage and 32.35 percentage; specificity 81.89 percentage, 93.70 percentage and 99.21 percentage; PPV 34.29 percentage, 38.46 percentage and 91.67 percentage; NPV 82.54 percentage, 80.41 percentage and 84.56 percentage; and, diagnostic accuracy 72.05 percentage, 77.02 percentage and 85.09 percentage, respectively. Conclusion: Clinical methods are

  1. Bilateral Vestibulopathy Aggravates Balance and Gait Disturbances in Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis: A Case Report

    NARCIS (Netherlands)

    Leeuwen, R.B. van; Smits, B.W.; Rodenburg, R.J.T.; Engelen, B.G.M. van

    2016-01-01

    In patients with a triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO), the presenting features are mainly ataxia or ptosis. SANDO patients often have impaired balance and gait, which is not surprising considering the combination of sensory ataxic neuropathy, and additional

  2. Trigeminal pain and quantitative sensory testing in painful peripheral diabetic neuropathy.

    Science.gov (United States)

    Arap, Astrid; Siqueira, Silvia R D T; Silva, Claudomiro B; Teixeira, Manoel J; Siqueira, José T T

    2010-07-01

    To evaluate patients with Diabetes Mellitus type 2 and painful peripheral neuropathy in order to investigate oral complaints and facial somatosensory findings. Case-control study; 29 patients (12 women, mean age 57.86 yo) with Diabetes Mellitus type 2 and 31 age-gender-matched controls were evaluated with a standardized protocol for general characteristics, orofacial pain, research diagnostic criteria for temporomandibular disorders, visual analogue scale and McGill Pain questionnaire, and a systematic protocol of quantitative sensory testing for bilateral facial sensitivity at the areas innervated by the trigeminal branches, which included the thermal detection by ThermoSensi 2, tactile evaluation with vonFrey filaments, and superficial pain thresholds with a superficial algometer (Micromar). Statistical analysis was performed with Wilcoxon, chi-square, confidence intervals and Spearman (ppain was reported by 55.2% of patients, and the most common descriptor was fatigue (50%); 17.2% had burning mouth. Myofascial temporomandibular disorders were diagnosed in 9 (31%) patients. The study group showed higher sensory thresholds of pain at the right maxillary branch (p=0.017) but sensorial differences were not associated with pain (p=0.608). Glycemia and HbA(1c) were positively correlated with the quantitative sensory testing results of pain (ppain thresholds were correlated with higher glycemia and glycated hemoglobin (p=0.027 and p=0.026). There was a high prevalence of orofacial pain and burning mouth was the most common complaint. The association of loss of pain sensation and higher glycemia and glycated hemoglobin can be of clinical use for the follow-up of DM complications. 2010 Elsevier Ltd. All rights reserved.

  3. Impaired sensory nerve function and axon morphology in mice with diabetic neuropathy

    OpenAIRE

    Lennertz, Richard C.; Medler, Karen A.; Bain, James L.; Wright, Douglas E.; Stucky, Cheryl L.

    2011-01-01

    Diabetes is the most prevalent metabolic disorder in the United States, and between 50% and 70% of diabetic patients suffer from diabetes-induced neuropathy. Yet our current knowledge of the functional changes in sensory nerves and their distal terminals caused by diabetes is limited. Here, we set out to investigate the functional and morphological consequences of diabetes on specific subtypes of cutaneous sensory nerves in mice. Diabetes was induced in C57Bl/6 mice by a single intraperitonea...

  4. Somatosensory evoked potentials for the diagnosis of proximal sensory median neuropathy with preserved distal sensory action potential.

    Science.gov (United States)

    Merle, P E; Joan, N; Varnet, O; Dupuy-Sonntag, D; Perin, B; Macron, J M

    2003-12-01

    A 33 year-old-man with paresthesia in first three fingers of the right hand after minor trauma of the arm was examined electrophysiologically. The proximal sensory median neuropathy was isolated which it is unusual in traumatic lesion. Motor and distal sensory conduction studies were normal but sensory evoked potentials (SEPs) were abnormal by right median nerve stimulation at the wrist level with decrease in amplitude of peripheral potential at the Erb's point, the cervical and contralateral parietal levels. This pattern, preserved distal sensory action potential and abnormal peripheral SEPs were suggesting the presence of proximal sensory block conduction without wallerian degeneration. The recovery was complete and fast in correlation with the absence of axonopathy.

  5. An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia.

    OpenAIRE

    Barnes, D; Misra, V P; Young, E P; Thomas, P K; Harding, A E

    1991-01-01

    A 42 year old man presented with a slowly progressive gait disturbance, generalised weakness, dysarthria, clumsiness and tremor of his hands, and involuntary jerks. Hexosaminidase A activity in plasma, leucocytes and fibroblasts was considerably reduced, establishing the diagnosis of GM2 gangliosidosis. Clinical examination showed two previously unreported features, a clinically evident sensory neuropathy and internuclear ophthalmoplegia.

  6. An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia.

    Science.gov (United States)

    Barnes, D; Misra, V P; Young, E P; Thomas, P K; Harding, A E

    1991-01-01

    A 42 year old man presented with a slowly progressive gait disturbance, generalised weakness, dysarthria, clumsiness and tremor of his hands, and involuntary jerks. Hexosaminidase A activity in plasma, leucocytes and fibroblasts was considerably reduced, establishing the diagnosis of GM2 gangliosidosis. Clinical examination showed two previously unreported features, a clinically evident sensory neuropathy and internuclear ophthalmoplegia. PMID:1838393

  7. An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed

    OpenAIRE

    Forman, Oliver P.; Hitti, Rebekkah J.; Pettitt, Louise; Jenkins, Christopher A.; O?Brien, Dennis P.; Shelton, G. Diane; De Risio, Luisa; Quintana, Rodrigo Gutierrez; Beltran, Elsa; Mellersh, Cathryn

    2016-01-01

    Sensory neuropathy in the Border Collie is a severe neurological disorder caused by the degeneration of sensory and, to a lesser extent, motor nerve cells with clinical signs starting between 2 and 7 months of age. Using a genome-wide association study approach with three cases and 170 breed matched controls, a suggestive locus for sensory neuropathy was identified that was followed up using a genome sequencing approach. An inversion disrupting the candidate gene FAM134B was identified. Genot...

  8. Hereditary motor and sensory neuropathy with hypertrophy of the cauda equina and concomitant demyelinating white matter lesions

    International Nuclear Information System (INIS)

    Ertl-Wagner, B.B.; Staebler, A.; Reiser, M.

    2005-01-01

    Hereditary motor and sensory neuropathy (HMSN) is thought to almost exclusively affect the peripheral nervous system. We report the case of a 48-year-old patient with a longstanding history of HMSN type I who developed signs and symptoms of a cauda equina compression and of a central nervous system relapsing-remitting demyelinating white matter disease. Gross enlargement of the cauda equina fibers was detected by MR imaging of the lumbar spine. Cranial MR imaging revealed demyelinating white matter lesions. This case suggests that peripheral neuropathic mechanisms may also affect the central myelin in HMSN type I

  9. PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies

    Science.gov (United States)

    2014-01-01

    PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) PMP22 deletions, leading to Hereditary Neuropathy with liability to Pressure Palsies (HNPP), and (3) PMP22 point mutations, causing both phenotypes. Overall prevalence of CMT is usually reported as 1:2,500, epidemiological studies show that 20-64% of CMT patients carry the PMP22 duplication. The prevalence of HNPP is not well known. CMT1A usually presents in the first two decades with difficulty walking or running. Distal symmetrical muscle weakness and wasting and sensory loss is present, legs more frequently and more severely affected than arms. HNPP typically leads to episodic, painless, recurrent, focal motor and sensory peripheral neuropathy, preceded by minor compression on the affected nerve. Electrophysiological evaluation is needed to determine whether the polyneuropathy is demyelinating. Sonography of the nerves can be useful. Diagnosis is confirmed by finding respectively a PMP22 duplication, deletion or point mutation. Differential diagnosis includes other inherited neuropathies, and acquired polyneuropathies. The mode of inheritance is autosomal dominant and de novo mutations occur. Offspring of patients have a chance of 50% to inherit the mutation from their affected parent. Prenatal testing is possible; requests for prenatal testing are not common. Treatment is currently symptomatic and may include management by a rehabilitation physician, physiotherapist, occupational therapist and orthopaedic surgeon. Adult CMT1A patients show slow clinical progression of disease, which seems to reflect a process of normal ageing. Life expectancy is normal. PMID:24646194

  10. [Severe periodontitis, edentulism and neuropathy in patients with type 2 diabetes mellitus].

    Science.gov (United States)

    Menchaca-Díaz, Rufino; Bogarín-López, Bernardo; Zamudio-Gómez, Miguel Alberto; Anzaldo-Campos, María Cecilia

    2012-01-01

    Periodontitis is a frequent pathologic condition in diabetic patient, and has been associated with chronic complications like nephropathy, cardiovascular disease, peripheral artery disease or death. To document the association between severe periodontitis and edentulism with the presence of sensory-motor neuropathy in diabetic patients. Cross-sectional study in type 2 diabetic patients from the family medicine unit no. 27 of the IMSS in Tijuana, México. Patients were evaluated to identify periodontitis and sensory-motor neuropathy. Information was also obtained about sex, age, duration of diabetes, glycemic control, smoking and alcohol use. Four hundred and thirty-six patients completed all measurements. In 180 (41.3%) neuropathy was identified, and associated with age (p diabetes (p periodontitis (OR: 2.7; IC 95%: 1.5-4.8);and with edentulism (OR: 4.4; IC 95%: 2.0-9.4). Logistic regression multivariable analysis kept as significative the association between severe periodontitis and edentulism with neuropathy (adjusted OR: 1.7; IC 95%: 1.1-2.6). Periodontitis and edentulism are associated with the presence of neuropathy in diabetic patients.

  11. Genetics Home Reference: distal hereditary motor neuropathy, type II

    Science.gov (United States)

    ... neuropathy, type II change single protein building blocks ( amino acids ) in the protein sequence. If either protein is altered, they may be more likely to cluster together and form clumps (aggregates). Aggregates of heat shock proteins may ...

  12. Natural history of corneal nerve morphology in mild neuropathy associated with type 1 diabetes: development of a potential measure of diabetic peripheral neuropathy.

    Science.gov (United States)

    Dehghani, Cirous; Pritchard, Nicola; Edwards, Katie; Vagenas, Dimitrios; Russell, Anthony W; Malik, Rayaz A; Efron, Nathan

    2014-11-18

    To investigate longitudinal changes of subbasal nerve plexus (SNP) morphology and its relationship with conventional measures of neuropathy in individuals with diabetes. A cohort of 147 individuals with type 1 diabetes and 60 age-balanced controls underwent detailed assessment of clinical and metabolic factors, neurologic deficits, quantitative sensory testing, nerve conduction studies, and corneal confocal microscopy at baseline and four subsequent annual visits. The SNP parameters included corneal nerve fiber density (CNFD), branch density (CNBD), and fiber length (CNFL), and were quantified using a fully automated algorithm. Linear mixed models were fitted to examine the changes in corneal nerve parameters over time. At baseline, 27% of the participants had mild diabetic neuropathy. All SNP parameters were significantly lower in the neuropathy group compared with controls (P nerve/mm(2), P = 0.01) in the neuropathy group compared with controls, which was associated with age (β = -0.06, P = 0.04) and duration of diabetes (β = -0.08, P = 0.03). In the neuropathy group, absolute changes of CNBD and CNFL showed moderate correlations with peroneal conduction velocity and cold sensation threshold, respectively (r, 0.38 and 0.40, P damage at the SNP, thus providing justification for our ongoing efforts to establish corneal nerve morphology as an appropriate adjunct to conventional measures of diabetic peripheral neuropathy. Copyright 2014 The Association for Research in Vision and Ophthalmology, Inc.

  13. Skin autofluorescence and peripheral neuropathy four years later in type 1 diabetes.

    Science.gov (United States)

    Rajaobelina, K; Farges, B; Nov, S; Maury, E; Cephise-Velayoudom, F L; Gin, H; Helmer, C; Rigalleau, V

    2017-02-01

    Advanced glycation end products (AGEs) are involved in diabetes complications. We aimed to investigate whether the accumulation of AGEs measured by skin autofluorescence (sAF) was associated with signs of diabetic peripheral neuropathy and to sensitivity, pain, motor and autonomic function 4 years later in patients with type 1 diabetes. At baseline, 188 patients (age 51 years, diabetes duration 22 years) underwent skin autofluorescence measurement using the AGE Reader. Four years later, signs of diabetic peripheral neuropathy were defined as the presence of neuropathic pain and/or feet sensory loss or foot ulceration. Neurological tests were systematically performed: vibration perception threshold by neuroesthesiometry, neuropathic pain by the Douleur Neuropathique en 4 Questions score, muscle strength by dynamometry and electrochemical skin conductance. Multivariate analyses were adjusted by age, sex, height, body mass index, tobacco, HbA 1c , diabetes duration, estimated glomerular filtration rate and albumin excretion rate. At the 4-year follow-up, 13.8% of patients had signs of diabetic peripheral neuropathy. The baseline sAF was higher in those with signs of diabetic peripheral neuropathy (2.5 ± 0.7 vs 2.1 ± 0.5 arbitrary units (AU), p multivariate analysis, a 1 SD higher skin autofluorescence at baseline was associated with an increased risk of signs of neuropathy (OR = 2.68, p = 0.01). All of the neurological tests were significantly altered in the highest quartile of the baseline sAF (>2.4 AU) compared with the lowest quartiles after multivariate adjustment. This non-invasive measurement of skin autofluorescence may have a value for diabetic peripheral neuropathy in type 1 diabetes and a potential clinical utility for detection of diabetic peripheral neuropathy. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

  14. Corneal confocal microscopy detects neuropathy in patients with type 1 diabetes without retinopathy or microalbuminuria.

    Directory of Open Access Journals (Sweden)

    Ioannis N Petropoulos

    Full Text Available Corneal innervation is increasingly used as a surrogate marker of human diabetic peripheral neuropathy (DPN however its temporal relationship with the other microvascular complications of diabetes is not fully established. In this cross-sectional, observational study we aimed to assess whether neuropathy occurred in patients with type 1 diabetes, without retinopathy or microalbuminuria.All participants underwent detailed assessment of peripheral neuropathy [neuropathy disability score (NDS, vibration perception threshold (VPT, peroneal motor nerve conduction velocity (PMNCV, sural sensory nerve conduction velocity (SSNCV and in vivo corneal confocal microscopy (IVCCM], retinopathy (digital fundus photography and albuminuria status [albumin: creatinine ratio (ACR].53 patients with Type 1 diabetes with (n=37 and without retinopathy (n=16 were compared to control subjects (n=27. SSNCV, corneal nerve fibre (CNFD and branch (CNBD density and length (CNFL were reduced significantly (p<0.001 in diabetic patients without retinopathy compared to control subjects. Furthermore, CNFD, CNBD and CNFL were also significantly (p<0.001 reduced in diabetic patients without microalbuminuria (n=39, compared to control subjects. Greater neuropathic severity was associated with established retinopathy and microalbuminuria.IVCCM detects early small fibre damage in the absence of retinopathy or microalbuminuria in patients with Type 1 diabetes.

  15. Corneal confocal microscopy detects neuropathy in patients with type 1 diabetes without retinopathy or microalbuminuria.

    Science.gov (United States)

    Petropoulos, Ioannis N; Green, Patrick; Chan, Agnes W S; Alam, Uazman; Fadavi, Hassan; Marshall, Andrew; Asghar, Omar; Efron, Nathan; Tavakoli, Mitra; Malik, Rayaz A

    2015-01-01

    Corneal innervation is increasingly used as a surrogate marker of human diabetic peripheral neuropathy (DPN) however its temporal relationship with the other microvascular complications of diabetes is not fully established. In this cross-sectional, observational study we aimed to assess whether neuropathy occurred in patients with type 1 diabetes, without retinopathy or microalbuminuria. All participants underwent detailed assessment of peripheral neuropathy [neuropathy disability score (NDS), vibration perception threshold (VPT), peroneal motor nerve conduction velocity (PMNCV), sural sensory nerve conduction velocity (SSNCV) and in vivo corneal confocal microscopy (IVCCM)], retinopathy (digital fundus photography) and albuminuria status [albumin: creatinine ratio (ACR)]. 53 patients with Type 1 diabetes with (n=37) and without retinopathy (n=16) were compared to control subjects (n=27). SSNCV, corneal nerve fibre (CNFD) and branch (CNBD) density and length (CNFL) were reduced significantly (pdiabetic patients without retinopathy compared to control subjects. Furthermore, CNFD, CNBD and CNFL were also significantly (pdiabetic patients without microalbuminuria (n=39), compared to control subjects. Greater neuropathic severity was associated with established retinopathy and microalbuminuria. IVCCM detects early small fibre damage in the absence of retinopathy or microalbuminuria in patients with Type 1 diabetes.

  16. Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family

    Directory of Open Access Journals (Sweden)

    A-ping Sun

    2015-01-01

    Full Text Available Charcot-Marie-Tooth disease type 1A (CMT1A is caused by duplication of the peripheral myelin protein 22 (PMP22 gene on chromosome 17. It is the most common inherited demyelinating neuropathy. Type 2 diabetes mellitus is a common metabolic disorder that frequently causes predominantly sensory neuropathy. In this study, we report the occurrence of CMT1A in a Chinese family affected by type 2 diabetes mellitus. In this family, seven individuals had duplication of the PMP22 gene, although only four had clinical features of polyneuropathy. All CMT1A patients with a clinical phenotype also presented with type 2 diabetes mellitus. The other three individuals had no signs of CMT1A or type 2 diabetes mellitus. We believe that there may be a genetic link between these two diseases.

  17. Medical marijuana for HIV-associated sensory neuropathy: legal and ethical issues.

    Science.gov (United States)

    Larriviere, Daniel G

    2014-10-01

    The number of states legalizing medical marijuana is increasing. Medical marijuana is possibly effective therapy for HIV-associated sensory neuropathy. Despite legalization at the state level, however, the current and contradictory federal drug enforcement policy creates the risk that physicians who recommend medical marijuana to their patients will lose their ability to prescribe medications. The federal-state tension has legal and ethical implications for neurologists who receive a request for medical marijuana from their patients since neurologists must strive to both relieve suffering and obey relevant laws. Recommendation of medical marijuana by neurologists to their patients is ethically permissible but is not ethically mandatory.

  18. The relationship of nerve fibre pathology to sensory function in entrapment neuropathy.

    Science.gov (United States)

    Schmid, Annina B; Bland, Jeremy D P; Bhat, Manzoor A; Bennett, David L H

    2014-12-01

    Surprisingly little is known about the impact of entrapment neuropathy on target innervation and the relationship of nerve fibre pathology to sensory symptoms and signs. Carpal tunnel syndrome is the most common entrapment neuropathy; the aim of this study was to investigate its effect on the morphology of small unmyelinated as well as myelinated sensory axons and relate such changes to somatosensory function and clinical symptoms. Thirty patients with a clinical and electrophysiological diagnosis of carpal tunnel syndrome [17 females, mean age (standard deviation) 56.4 (15.3)] and 26 age and gender matched healthy volunteers [18 females, mean age (standard deviation) 51.0 (17.3)] participated in the study. Small and large fibre function was examined with quantitative sensory testing in the median nerve territory of the hand. Vibration and mechanical detection thresholds were significantly elevated in patients with carpal tunnel syndrome (P0.13). A skin biopsy was taken from a median nerve innervated area of the proximal phalanx of the index finger. Immunohistochemical staining for protein gene product 9.5 and myelin basic protein was used to evaluate morphological features of unmyelinated and myelinated axons. Evaluation of intraepidermal nerve fibre density showed a striking loss in patients (P0.07). However, patients displayed a significant increase in the percentage of elongated nodes (Parchitecture of voltage-gated sodium channel distribution. Whereas neither neurophysiology nor quantitative sensory testing correlated with patients' symptoms or function deficits, the presence of elongated nodes was inversely correlated with a number of functional and symptom related scores (Psensory axons. We also document for the first time that entrapment neuropathies lead to a clear reduction in intraepidermal nerve fibre density, which was independent of electrodiagnostic test severity. The presence of elongated nodes in the target tissue further suggests that entrapment

  19. Peripheral neuropathy in glycogen storage disease type III: Fact or myth?

    Science.gov (United States)

    Herlin, Bastien; Laforět, Pascal; Labrune, Philippe; Fournier, Emmanuel; Stojkovic, Tanya

    2016-02-01

    The aim of this study was to assess whether peripheral neuropathy is a feature of glycogen storage disease type IIIa (GSD IIIa) in adult patients. Medical records of a cohort of adult GSD IIIa patients who underwent electromyography (EMG) and nerve conduction studies (NCS) were reviewed, and the results were correlated with physical examination findings. Sixteen patients underwent EMG and NCS; 4 complained of exercise intolerance, 1 of foot paresthesia, and 11 of muscle weakness (3 proximal, 8 distal). None of the patients had sensory deficits on clinical examination. All motor and sensory conduction velocities and sensory amplitudes were within reference ranges. EMG showed myopathic motor unit potentials in 15 of the 16 patients. Based on the clinical examination and the NCS and EMG results, we did not identify any peripheral nerve involvement in our adult patients diagnosed with GSD III. © 2015 Wiley Periodicals, Inc.

  20. Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy.

    Science.gov (United States)

    Dafsari, Hormos Salimi; Byrne, Susan; Lin, Jean-Pierre; Pitt, Matthew; Jongbloed, Jan Dh; Flinter, Frances; Jungbluth, Heinz

    2015-06-01

    Goldberg-Shprintzen megacolon syndrome (GOSHS) (OMIM 609460) is characterized by a combination of learning difficulties, characteristic dysmorphic features and Hirschsprung's disease. Variable clinical features include iris coloboma, congenital heart defects and central nervous system abnormalities, in particular polymicrogyria. GOSHS has been attributed to recessive mutations in KIAA1279, encoding kinesin family member (KIF)-binding protein (KBP) with a crucial role in neuronal microtubule dynamics. Here we report on a 7-year-old girl with GOSHS as a result of a homozygous deletion of exons 5 and 6 of the KIAA1279 gene. She had been referred with the suspicion of an underlying neuromuscular disorder before the genetic diagnosis was established, prompted by the findings of motor developmental delay, hypotonia, ptosis and absent reflexes. Neurophysiological studies revealed unequivocal evidence of a peripheral axonal sensory motor neuropathy. We hypothesize that an axonal sensory motor neuropathy may be part of the phenotypical spectrum of KIAA1279-related GOSHS, probably reflecting the effects of reduced KBP protein expression on peripheral neuronal function. © 2015 Wiley Periodicals, Inc.

  1. Touch pressure and sensory density after tarsal tunnel release in diabetic neuropathy.

    Science.gov (United States)

    Gondring, William H; Tarun, Prashant K; Trepman, Elly

    2012-12-01

    Limited quantitative information is available about the improvement of protective sensation after tarsal tunnel release in patients with diabetic peripheral neuropathy. Prospective, non-blinded, non-randomized case series of 10 feet in 8 diabetic patients and 24 feet in 22 non-diabetic patients who had tarsal tunnel release. Preoperative and postoperative (average, 8-9 months) anatomic, quantitative sensory testing was done with touch pressure 1-point threshold (Semmes-Weinstein monofilaments) and 2-point discrimination. There was marked, significant postoperative improvement of mean touch pressure 1-point threshold, compared with preoperative values, for medial calcaneal, medial plantar, and lateral plantar nerves in both non-diabetic and diabetic patients. There was minimal improvement in 2-point discrimination only for the medial calcaneal nerve in non-diabetic, but not in diabetic, patients. Nerve entrapment at the tarsal tunnel is an important component of diabetic peripheral neuropathy. Tarsal tunnel decompression may improve sensory impairment and restore protective sensation. Copyright © 2012 European Foot and Ankle Society. Published by Elsevier Ltd. All rights reserved.

  2. Exacerbation of Charcot-Marie-Tooth type 2E neuropathy following traumatic nerve injury.

    Science.gov (United States)

    Villalón, Eric; Dale, Jeffrey M; Jones, Maria; Shen, Hailian; Garcia, Michael L

    2015-11-19

    Charcot-Marie-Tooth disease (CMT) is the most commonly inherited peripheral neuropathy. CMT disease signs include distal limb neuropathy, abnormal gait, sensory defects, and deafness. We generated a novel line of CMT2E mice expressing hNF-L(E397K), which displayed muscle atrophy of the lower limbs without denervation, proximal reduction in large caliber axons, and decreased nerve conduction velocity. In this study, we challenged wild type, hNF-L and hNF-L(E397K) mice with crush injury to the sciatic nerve. We analyzed functional recovery by measuring toe spread and analyzed gait using the Catwalk system. hNF-L(E397K) mice demonstrated reduced recovery from nerve injury consistent with increased susceptibility to neuropathy observed in CMT patients. In addition, hNF-L(E397K) developed a permanent reduction in their ability to weight bear, increased mechanical allodynia, and premature gait shift in the injured limb, which led to increasingly disrupted interlimb coordination in hNF-L(E397K). Exacerbation of neuropathy after injury and identification of gait alterations in combination with previously described pathology suggests that hNF-L(E397K) mice recapitulate many of clinical signs associated with CMT2. Therefore, hNF-L(E397K) mice provide a model for determining the efficacy of novel therapies. Copyright © 2015 Elsevier B.V. All rights reserved.

  3. The influence of peripheral neuropathy, gender, and obesity on the postural stability of patients with type 2 diabetes mellitus.

    Science.gov (United States)

    Herrera-Rangel, Aline; Aranda-Moreno, Catalina; Mantilla-Ochoa, Teresa; Zainos-Saucedo, Lylia; Jáuregui-Renaud, Kathrine

    2014-01-01

    To assess the influence of peripheral neuropathy, gender, and obesity on the postural stability of patients with type 2 diabetes mellitus. 151 patients with no history of otology, neurology, or orthopaedic or balance disorders accepted to participate in the study. After a clinical interview and neuropathy assessment, postural stability was evaluated by static posturography (eyes open/closed on hard/soft surface) and the "Up & Go" test. During static posturography, on hard surface, the length of sway was related to peripheral neuropathy, gender, age, and obesity; on soft surface, the length of sway was related to peripheral neuropathy, gender, and age, the influence of neuropathy was larger in males than in females, and closing the eyes increased further the difference between genders. The mean time to perform the "Up & Go" test was 11.6 ± 2.2 sec, with influence of peripheral neuropathy, gender, and age. In order to preserve the control of static upright posture during conditions with deficient sensory input, male patients with type 2 diabetes mellitus with no history of balance disorders may be more vulnerable than females, and obesity may decrease the static postural control in both males and females.

  4. Serum levels of TGF-β1 in patients of diabetic peripheral neuropathy and its correlation with nerve conduction velocity in type 2 diabetes mellitus.

    Science.gov (United States)

    Hussain, Gauhar; Rizvi, S Aijaz Abbas; Singhal, Sangeeta; Zubair, Mohammad; Ahmad, Jamal

    2016-01-01

    To correlate serum levels of TGF-β1 with motor and sensory nerve conduction velocities in patients of type 2 diabetes mellitus The study was conducted in diagnosed type 2 diabetes mellitus patients which were divided in patients with clinically detectable peripheral neuropathy of shorter duration (n=37) and longer duration (n=27). They were compared with patients without clinical neuropathy (n=22). Clinical diagnosis was based on neuropathy symptom score (NSS) and Neuropathy disability score (NDS) for signs. Blood samples were collected for baseline investigations and estimation of serum TGF-β1. Nerve conduction velocity was measured in both upper and lower limbs. Median, Ulnar, Common Peroneal and Posterior Tibial nerves were selected for motor nerve conduction study and Median and Sural nerves were selected for sensory nerve conduction study In patients of type 2 diabetes mellitus with clinically detectable and serum TGF-β1 showed positive correlation with nerve conduction velocities High level of TGF-β1 in serum of T2DM patients with neuropathy show possible contribution in development of neuropathy. Due to its independent association this cytokine might be used as biomarker for diabetic peripheral neuropathy. Copyright © 2015 Diabetes India. Published by Elsevier Ltd. All rights reserved.

  5. Genetics of HIV-associated sensory neuropathy and related pain in Africans.

    Science.gov (United States)

    Ngassa Mbenda, Huguette Gaelle; Wadley, Antonia; Lombard, Zane; Cherry, Catherine; Price, Patricia; Kamerman, Peter

    2017-08-01

    Despite the use of safer antiretroviral medications, the rate of HIV-associated sensory neuropathy (HIV-SN), the most common neurological complication of HIV, remains high. This condition is often painful and has a negative effect on quality of life. Up to 90% of those with HIV-SN experience pain for which there is no effective analgesic treatment. Genetic factors are implicated, but there is a lack of a comprehensive body of research for African populations. This knowledge gap is even more pertinent as Africans are most affected by HIV. However, recent studies performed in Southern African populations have identified genes displaying potential as genetic markers for HIV-SN and HIV-SN-associated pain in Africans. Here, we review the published studies to describe current knowledge of genetic risk factors for this disease in Africa.

  6. Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.

    Science.gov (United States)

    Gáti, István; Danielsson, Olof; Jonasson, Jon; Landtblom, Anne-Marie

    2011-12-01

    Case histories of two unrelated patients suffering from sensory ataxic neuropathy, dysarthria/dysphagia and external ophthalmoplegia (SANDO) are reported. Both patients showed compound heterozygosity for POLG1 gene mutations, and presented with symptom of the clinical characteristics of SANDO. A patient with a p.A467T and p.W748S, well-known mutations showed a progressive course with early onset and multisystem involvement, including symptoms characteristics for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). The second patient showed a less well-known p.T251I and p.G848S mutations with late onset and dysphagia/dysarthria dominated, moderate symptoms. This later is the second published case history, when these POLG1 gene mutations are the possible background of late onset SANDO, dominantly presenting with bulbar symptoms.

  7. Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.

    LENUS (Irish Health Repository)

    Davidson, G L

    2012-08-01

    The hereditary sensory and autonomic neuropathies (HSAN, also known as the hereditary sensory neuropathies) are a clinically and genetically heterogeneous group of disorders, characterised by a progressive sensory neuropathy often complicated by ulcers and amputations, with variable motor and autonomic involvement. To date, mutations in twelve genes have been identified as causing HSAN. To study the frequency of mutations in these genes and the associated phenotypes, we screened 140 index patients in our inherited neuropathy cohort with a clinical diagnosis of HSAN for mutations in the coding regions of SPTLC1, RAB7, WNK1\\/HSN2, FAM134B, NTRK1 (TRKA) and NGFB. We identified 25 index patients with mutations in six genes associated with HSAN (SPTLC1, RAB7, WNK1\\/HSN2, FAM134B, NTRK1 and NGFB); 20 of which appear to be pathogenic giving an overall mutation frequency of 14.3%. Mutations in the known genes for HSAN are rare suggesting that further HSAN genes are yet to be identified. The p.Cys133Trp mutation in SPTLC1 is the most common cause of HSAN in the UK population and should be screened first in all patients with sporadic or autosomal dominant HSAN.

  8. Neurophysiological evidence for generalized sensory neuronopathy in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome.

    Science.gov (United States)

    Szmulewicz, David J; Seiderer, Linda; Halmagyi, G Michael; Storey, Elsdon; Roberts, Leslie

    2015-04-01

    Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a recently described multisystem ataxia defined by the presence of cerebellar ataxia, bilateral vestibulopathy, and a somatosensory deficit. The characteristic clinical sign is an abnormal visually enhanced vestibuloocular reflex. The somatosensory deficit contributes to a significant level of disability in CANVAS. This study was a neurophysiological investigation of 14 patients with CANVAS. Findings revealed uniformly absent sensory nerve action potentials in all limbs, abnormal blink reflexes in 13 of 14 patients, and abnormal masseter reflexes in 6 of 11 patients. Tibial H-reflexes were absent in 11 of 14 patients. Somatosensory evoked potentials were abnormal in 10 of the 11 patients tested, and brainstem auditory evoked responses were abnormal in 3 of 8. Cutaneous silent period responses were abnormal in 7 of 14 patients. We suggest that a sensory neuronopathy should be sought in cerebellar and/or vestibular ataxias, particularly where the degree of ataxia is out of proportion to the clinically identified cerebellar and/or vestibular dysfunction. © 2014 Wiley Periodicals, Inc.

  9. Sildenafil ameliorates long term peripheral neuropathy in type II diabetic mice.

    Directory of Open Access Journals (Sweden)

    Lei Wang

    Full Text Available Diabetic peripheral neuropathy is a common complication of long-standing diabetes mellitus. To mimic clinical trials in which patients with diabetes enrolled have advanced peripheral neuropathy, we investigated the effect of sildenafil, a specific inhibitor of phosphodiesterase type 5 enzyme, on long term peripheral neuropathy in middle aged male mice with type II diabetes. Treatment of diabetic mice (BKS.Cg-m+/+Leprdb/J, db/db at age 36 weeks with sildenafil significantly increased functional blood vessels and regional blood flow in the sciatic nerve, concurrently with augmentation of intra-epidermal nerve fiber density in the skin and myelinated axons in the sciatic nerve. Functional analysis showed that the sildenafil treatment considerably improved motor and sensory conduction velocities in the sciatic nerve and peripheral thermal stimulus sensitivity compared with the saline treatment. In vitro studies showed that mouse dermal endothelial cells (MDE cultured under high glucose levels exhibited significant down regulation of angiopoietin 1 (Ang1 expression and reduction of capillary-like tube formation, which were completely reversed by sildenafil. In addition, incubation of dorsal root ganglia (DRG neurons with conditioned medium harvested from MDE under high glucose levels suppressed neurite outgrowth, where as conditional medium harvested from MDE treated with sildenafil under high glucose levels did not inhibit neurite outgrowth of DRG neurons. Moreover, blockage of the Ang1 receptor, Tie2, with a neutralized antibody against Tie2 abolished the beneficial effect of sildenafil on tube formation and neurite outgrowth. Collectively, our data indicate that sildenafil has a therapeutic effect on long term peripheral neuropathy of middle aged diabetic mice and that improvement of neurovascular dysfunction by sildenafil likely contributes to the amelioration of nerve function. The Ang1/Tie2 signaling pathway may play an important role in these

  10. The role of insulin resistance in diabetic neuropathy in Koreans with type 2 diabetes mellitus: a 6-year follow-up study.

    Science.gov (United States)

    Cho, Yu Na; Lee, Kee Ook; Jeong, Julie; Park, Hyung Jun; Kim, Seung-Min; Shin, Ha Young; Hong, Ji-Man; Ahn, Chul Woo; Choi, Young-Chul

    2014-05-01

    We previously reported that insulin resistance, low high-density lipoprotein (HDL) cholesterol, and glycaemic exposure Index are independently associated with peripheral neuropathy in Korean patients with type 2 diabetes mellitus. We followed the patients who participated in that study in 2006 for another 6 years to determine the relationship between insulin resistance and neuropathy. This study involved 48 of the original 86 Korean patients with type 2 diabetes mellitus who were referred to the Neurology clinic for the assessment of diabetic neuropathy from January 2006 to December 2006. These 48 patients received management for glycaemic control and prevention of diabetic complications in the outpatient clinic up to 2012. We reviewed blood test results and the nerve conduction study findings of these patients, taken over a 6-year period. Low HDL cholesterol and high triglycerides significantly influenced the development of diabetic neuropathy. Kitt value (1/insulin resistance) in the previous study affected the occurrence of neuropathy, despite adequate glycaemic control with HbA1c resistance affected the development of diabetic neuropathy after 6 years: insulin resistance in 2006 showed a positive correlation with a change in sural sensory nerve action potential in 2012. Diabetic neuropathy can be affected by previous insulin resistance despite regular glycaemic control. Dyslipidaemia should be controlled in patients who show high insulin resistance because HDL cholesterol and triglycerides are strongly correlated with later development of diabetic neuropathy.

  11. An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed.

    Science.gov (United States)

    Forman, Oliver P; Hitti, Rebekkah J; Pettitt, Louise; Jenkins, Christopher A; O'Brien, Dennis P; Shelton, G Diane; De Risio, Luisa; Quintana, Rodrigo Gutierrez; Beltran, Elsa; Mellersh, Cathryn

    2016-09-08

    Sensory neuropathy in the Border Collie is a severe neurological disorder caused by the degeneration of sensory and, to a lesser extent, motor nerve cells with clinical signs starting between 2 and 7 months of age. Using a genome-wide association study approach with three cases and 170 breed matched controls, a suggestive locus for sensory neuropathy was identified that was followed up using a genome sequencing approach. An inversion disrupting the candidate gene FAM134B was identified. Genotyping of additional cases and controls and RNAseq analysis provided strong evidence that the inversion is causal. Evidence of cryptic splicing resulting in novel exon transcription for FAM134B was identified by RNAseq experiments. This investigation demonstrates the identification of a novel sensory neuropathy associated mutation, by mapping using a minimal set of cases and subsequent genome sequencing. Through mutation screening, it should be possible to reduce the frequency of or completely eliminate this debilitating condition from the Border Collie breed population. Copyright © 2016 Forman et al.

  12. An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed

    Directory of Open Access Journals (Sweden)

    Oliver P. Forman

    2016-09-01

    Full Text Available Sensory neuropathy in the Border Collie is a severe neurological disorder caused by the degeneration of sensory and, to a lesser extent, motor nerve cells with clinical signs starting between 2 and 7 months of age. Using a genome-wide association study approach with three cases and 170 breed matched controls, a suggestive locus for sensory neuropathy was identified that was followed up using a genome sequencing approach. An inversion disrupting the candidate gene FAM134B was identified. Genotyping of additional cases and controls and RNAseq analysis provided strong evidence that the inversion is causal. Evidence of cryptic splicing resulting in novel exon transcription for FAM134B was identified by RNAseq experiments. This investigation demonstrates the identification of a novel sensory neuropathy associated mutation, by mapping using a minimal set of cases and subsequent genome sequencing. Through mutation screening, it should be possible to reduce the frequency of or completely eliminate this debilitating condition from the Border Collie breed population.

  13. Atypical Electrophysiological Findings in a Patient with Acute Motor and Sensory Axonal Neuropathy

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    Viviana Versace

    2017-11-01

    Full Text Available Guillain–Barré syndrome (GBS is an immune-mediated polyradiculoneuropathy with acute onset and rapid clinical worsening; early diagnosis and immunomodulating therapy can ameliorate the course of disease. During the first days, however, nerve conduction studies (NCSs are not always conclusive. Here, we describe a 73-year-old man presenting with progressive muscular weakness of the lower limbs, ascending to the upper limbs, accompanied by distal sensory disturbances. Neuroimaging of brain and spine and NCSs were unremarkable; cerebrospinal fluid analysis revealed no albuminocytologic dissociation. Based on typical clinical features, and on positivity for serum GD1b-IgM antibodies, GBS with proximal conduction failure at multiple radicular levels was postulated, and a standard regime of intravenous immunoglobulin was administered. Four weeks later, the patient presented with flaccid tetraparesis, areflexia, and reduction of position sense, tingling paresthesias, and initial respiratory distress. Repeat NCS still revealed almost normal findings, except for the disappearance of right ulnar nerve F-waves. A few days thereafter, the patient developed severe respiratory insufficiency requiring mechanical ventilation for 2 weeks. On day 50, NCS revealed for the first time markedly reduced compound muscle action potentials and sensory nerve action potentials in all tested nerves, without signs of demyelination; needle electromyography documented widespread denervation. The diagnosis of acute motor and sensory axonal neuropathy was made. After 3 months of intensive rehabilitation, the patient regained the ability to walk with little assistance and was discharged home. In conclusion, normal NCS findings up to several weeks do not exclude the diagnosis of GBS. Very proximal axonal conduction failure with late distal axonal degeneration should be taken into consideration, and electrodiagnostic follow-up examinations, even employing unusual techniques

  14. Influence of the diabetic neuropathy on the behavior of electromyographic and sensorial responses in treadmill gait.

    Science.gov (United States)

    Sacco, I C N; Amadio, A C

    2003-06-01

    We describe and interpret self-cadence treadmill walking by neuropathic diabetic subjects under biomechanical and somatosensorial considerations. EMG variables during stance phase of neuropathic diabetic subjects were acquired and analyzed. We also evaluated sensorial and motor aspects of the feet and legs. The experimental procedures are divided as follows: (a) determination of the sensitive cronaxie and pain tolerance in selected plantar areas, (b) determination and description of temporal aspects of EMG patterns of the vastus lateralis, tibialis anterior and lateral gastrocnemius of both sides during treadmill walking. We analyze and compare the results of the sensitive cronaxie, pain tolerance and the EMG parameters obtained by two experimental groups: diabetic neuropathic (n=20) and non-diabetic control subjects (n=20). The somatosensorial responses and pain tolerance threshold in the diabetic neuropathic group were significantly higher and considered far from the normal patterns. The EMG responses of the thigh and leg muscles in the diabetic neuropathic group were delayed if compared to the normal recruitment pattern, especially the tibialis anterior and vastus lateralis. These findings lead us to conclude that probably central and/or peripheral control mechanisms of the gait of neuropathic diabetic patients are altered due to somatosensorial and motor deficits. The mechanism of load reduction during walking was considered inefficient because of the activation delay of the vastus lateralis and tibialis anterior. We have concluded that the peripheral diabetic neuropathy damages not only somatosensorial and motor sources but also intrinsic mechanisms of motor control leading to alterations in the ankle efficiency in gait. This resulting distal inefficiency compromises some of the principal requirements for gait, such as progression and balance. This investigation is based on an innovating thematic approach involving the diabetic peripheral neuropathy. This

  15. Bilateral Vestibulopathy Aggravates Balance and Gait Disturbances in Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis: A Case Report.

    Science.gov (United States)

    van Leeuwen, Roeland B; Smits, Bart W; Rodenburg, Richard J; van Engelen, Baziel G

    2016-09-01

    In patients with a triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO), the presenting features are mainly ataxia or ptosis. SANDO patients often have impaired balance and gait, which is not surprising considering the combination of sensory ataxic neuropathy, and additional symptoms like cerebellar ataxia and limb girdle weakness. We describe a SANDO patient who noticed an increasingly impaired balance and gait, without any dizziness. Neurological investigation revealed an external ophthalmeplegia and a cerebellar ataxia; the head impulse test was not reliable because of eye movement disorders. The caloric reflex tests showed lack of responses on both sides, compatible with severe bilateral vestibulopathy. Making the diagnosis of bilateral vestibulopathy in SANDO patients may have implications for the management of the patient, because specific vestibular rehabilitation can improve gaze and postural stability.

  16. Bilateral Neuropathy of Primary Sensory Neurons by the Chronic Compression of Multiple Unilateral DRGs

    Science.gov (United States)

    Xie, Ya-Bin; Zhao, Huan; Wang, Ying; Song, Kai; Zhang, Ming; Meng, Fan-Cheng; Yang, Yu-Jie; He, Yang-Song; Kuang, Fang; You, Si-Wei; You, Hao-Jun; Xu, Hui

    2016-01-01

    To mimic multilevel nerve root compression and intervertebral foramina stenosis in human, we established a new animal model of the chronic compression of unilateral multiple lumbar DRGs (mCCD) in the rat. A higher occurrence of signs of spontaneous pain behaviors, such as wet-dog shaking and spontaneous hind paw shrinking behaviors, was firstly observed from day 1 onward. In the meantime, the unilateral mCCD rat exhibited significant bilateral hind paw mechanical and cold allodynia and hyperalgesia, as well as a thermal preference to 30°C plate between 30 and 35°C. The expression of activating transcription factor 3 (ATF3) was significantly increased in the ipsilateral and contralateral all-sized DRG neurons after the mCCD. And the expression of CGRP was significantly increased in the ipsilateral and contralateral large- and medium-sized DRG neurons. ATF3 and CGRP expressions correlated to evoked pain hypersensitivities such as mechanical and cold allodynia on postoperative day 1. The results suggested that bilateral neuropathy of primary sensory neurons might contribute to bilateral hypersensitivity in the mCCD rat. PMID:26819761

  17. Bilateral Neuropathy of Primary Sensory Neurons by the Chronic Compression of Multiple Unilateral DRGs

    Directory of Open Access Journals (Sweden)

    Ya-Bin Xie

    2016-01-01

    Full Text Available To mimic multilevel nerve root compression and intervertebral foramina stenosis in human, we established a new animal model of the chronic compression of unilateral multiple lumbar DRGs (mCCD in the rat. A higher occurrence of signs of spontaneous pain behaviors, such as wet-dog shaking and spontaneous hind paw shrinking behaviors, was firstly observed from day 1 onward. In the meantime, the unilateral mCCD rat exhibited significant bilateral hind paw mechanical and cold allodynia and hyperalgesia, as well as a thermal preference to 30°C plate between 30 and 35°C. The expression of activating transcription factor 3 (ATF3 was significantly increased in the ipsilateral and contralateral all-sized DRG neurons after the mCCD. And the expression of CGRP was significantly increased in the ipsilateral and contralateral large- and medium-sized DRG neurons. ATF3 and CGRP expressions correlated to evoked pain hypersensitivities such as mechanical and cold allodynia on postoperative day 1. The results suggested that bilateral neuropathy of primary sensory neurons might contribute to bilateral hypersensitivity in the mCCD rat.

  18. Hereditary motor and sensory neuropathies or Charcot-Marie-Tooth diseases: an update.

    Science.gov (United States)

    Tazir, Meriem; Hamadouche, Tarik; Nouioua, Sonia; Mathis, Stephane; Vallat, Jean-Michel

    2014-12-15

    Hereditary motor and sensory neuropathies (HMSN) or Charcot-Marie-Tooth (CMT) diseases are the most common degenerative disorders of the peripheral nervous system. However, the frequency of the different subtypes varies within distinct populations. Although more than seventy clinical and genetic forms are known to date, more than 80% of CMT patients in Western countries have genetic abnormalities associated with PMP22, MPZ, MFN2 and GJB1. Given the considerable genetic heterogeneity of CMT, we emphasize the interest of both clinical and pathological specific features such that focused genetic testing could be performed. In this regard, peripheral nerve lesions in GDAP1 mutations (AR CMT1A), such as mitochondrial abnormalities, have been newly demonstrated. Otherwise, while demyelinating autosomal recessive CMT used to be classified as CMT4 (A, B, C …), we propose a simplified classification such as AR CMT1 (A, B, C …), and AR CMT2 for axonal forms. Also, we stress that next generation sequencing techniques, now considered to be the most efficient methods of genetic testing in CMT, will be helpful in molecular diagnosis and research of new genes involved. Finally, while no effective therapy is known to date, ongoing new therapeutic trials such as PXT3003 (a low dose combination of the three already approved drugs baclofen, naltrexone, and D-sorbitol) give hopes for potential curative treatment. Copyright © 2014 Elsevier B.V. All rights reserved.

  19. Electrophysiological Changes of Sensory Nerves in Patients with Type-2 Diabetes Mellitus of Different Duration

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    Sharmeen Sultana

    2010-07-01

    Full Text Available Background: Peripheral neuropathy is a common complication of diabetes mellitus. Among the diabetic neuropathiessymmetrical sensory polyneuropathy is the most common one. Abnormalities of sensory nerve conduction are featuresof diabetic nerve damage. Significant association has been found between electrophysiological parameters of sensorynerves and duration of metabolic derangement in patients with diabetic neuropathy. Objectives: The present study wasdesigned to characterize nerve conduction abnormalities of sensory nerves in subjects with type 2 diabetes mellitus ofdifferent duration and also to assess whether duration of diabetes has any influence on the sensory nerve function.Methods: Forty-four type 2 diabetic subjects were included in two groups:- Group B1 consisted of 23 diabetic subjectshaving duration of diabetes for 5-10 years (shorter duration and Group B2 consisted of 21 diabetic subjects havingduration of diabetes for 10-15 years (longer duration. Twenty-five age and BMI matched healthy subjects withoutfamily history of diabetes were included as Group A (control subjects. Sensory nerve conduction velocities, actionpotential amplitudes and latencies of ulnar and sural nerves were measured by a standard NCV-EMG equipment. Result:No significant changes in sensory nerve conduction parameters were observed in the group of diabetic subjects havingshorter duration of diabetes. In the diabetic group with relatively longer duration of diabetes some of the sensory nerveconduction parameters were affected. Among them S SNAP and S NCV were significantly (P<0.01 and <0.05 respectivelyreduced in diabetic group with relatively longer duration of diabetes. Conclusion: The results of the study indicated thatneuronal dysfunction for sensory nerves appears after a prolonged exposure to hyperglycemia; there may also be somegenetic and biochemical basis (other than hyperglycemia for early sensory sparing in type 2 diabetic population of

  20. Genetics Home Reference: hereditary sensory and autonomic neuropathy type IE

    Science.gov (United States)

    ... numbers of affected families have been identified in populations around the world. Related Information What information about ... not well understood, the enzyme may help regulate neuron maturation and specialization (differentiation), the ability of neurons ...

  1. Genetics Home Reference: hereditary sensory and autonomic neuropathy type V

    Science.gov (United States)

    ... sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5 . The signs and symptoms of HSAN5 appear early, usually at birth or during infancy. People with HSAN5 lose the ability to feel pain, heat, and cold. Deep pain perception, the feeling of pain from ...

  2. Differences and similarities in development of corneal nerve damage and peripheral neuropathy and in diet-induced obesity and type 2 diabetic rats.

    Science.gov (United States)

    Davidson, Eric P; Coppey, Lawrence J; Kardon, Randy H; Yorek, Mark A

    2014-03-03

    Peripheral neuropathy has been shown to exist in prediabetic and diabetic patients and animal models. However, the development of peripheral neuropathy in prediabetes and posthyperglycemia is likely different. The purpose of this study was to examine the progression of peripheral neuropathy in diet-induced obese rats and high-fat-fed rats treated with a low dose of streptozotocin, a model for type 2 diabetes, using standard endpoints as well as corneal sensitivity and innervation. Diet-induced obese rats and high-fat/low-dose streptozotocin diabetic rats were used to examine standard peripheral neuropathy endpoints and innervation of the cornea and corneal epithelium using corneal and standard confocal microscopy, respectively, and corneal sensitivity using a Cochet-Bonnet esthesiometer at three different time points. Obese rats and to a greater extent diabetic rats were insulin resistant. Obese and diabetic rats had developed sensory nerve deficits, but only diabetic rats had motor nerve dysfunction as determined by measuring nerve conduction velocity, thermal nociception, and intraepidermal nerve fiber density. In the cornea there was a decrease in corneal nerve fiber length, innervation of the corneal epithelium, and corneal sensitivity in both diet-induced obese and diabetic rats. These studies demonstrate that changes in corneal nerve innervation and sensitivity occur in both obese and type 2 diabetic rat models that are consistent with development of peripheral neuropathy. Examination of corneal nerve changes may be valuable endpoints for exploring potential treatments for peripheral neuropathy in both prediabetes with insulin resistance and diabetes.

  3. Genetics of hereditary motor and sensory neuropathy and the Costa Rican contribution

    Directory of Open Access Journals (Sweden)

    Alejandro Leal

    2004-09-01

    Full Text Available Hereditary motor and sensory neuropathy (HMSN or Charcot-Marie-Tooth disease (CMT is the most common hereditary illness of the peripheral nervous system. The genetics and the physiopathological aspects of the disease clarified until know, are here summarized. More than twenty genes and ten additional loci have been related with HMSN. These findings contribute to understand the metabolism of peripheral nerves and give the basis for molecular diagnostics and future therapy. Several Costa Rican families with CMT have been identified, specially with axonal forms. Two families present mutations in the myelin protein zero gene (MPZ. In addition, linkage have been found between the disease and locus 19q13.3 in an extended family, and a mutation segregating with the disease is present in a candidate gene of the critical interval. Costa Rica has several advantages for genetical studies, that can contribute importantly in the generation of knowledge in the neurogenetical field. Rev. Biol. Trop. 52(3: 475-483. Epub 2004 Dic 15.El grupo de neuropatías motoras y sensoriales hereditarias (HMSN o enfermedad de Charcot-Marie-Tooth (CMT es el padecimiento hereditario más común del sistema nervioso periférico. El propósito de este trabajo es resumir los aspectos genéticos y fisiopatológicos más actuales de esta enfermedad. Más de veinte genes y diez loci adicionales han sido relacionados con HMSN. Estos hallazgos han contribuido con la comprensión del metabolismo de los nervios periféricos y sirven de base para el diagnóstico molecular y el diseño de terapias. Diversas familias costarricenses con CMT han sido identificadas: dos de ellas presentan mutaciones en el gen que codifica por la mielina proteína cero (MPZ. Además, un análisis de ligamiento localizó el gen que causa una forma axonal de la enfermedad en el cromosoma 19q13.3 en una extensa familia; también se detectó en esa región una mutación que co-segrega con la enfermedad y que

  4. [Joint diagnostic value of four temperature sensation tests in elderly patients with type 2 diabetic peripheral neuropathy].

    Science.gov (United States)

    Guo, Wei; Li, Yun-Ming; Ai, Zhi-Hua; You, Zhi-Qing; Wan, Yong; Cheng, Ying; Lang, Hong-Mei

    2013-07-01

    To explore the joint diagnostic value of four temperature sensation tests in elderly patients with type 2 diabetic peripheral neuropathy. Thermal sensory analyzer-II were applied to measure cool sensation (CS), warm sensation (WS), cold pain sensation (CP)and heat pain sensation (HP) of 308 elderly patients with type 2 diabetes. Logistic regression model was adopted to create the new variable Temp4 from four temperature sensation tests to diagnose type 2 diabetic peripheral neuropathy. The ROC curve analysis was used to determine the best cut-off points of the four temperature sensation and Temp4, and the diagnostic value of it was evaluated. The means of temperature sensation tests of the diabetic peripheral neuropathy (DPN) group were significantly different from those of the non-DPN group (P sensation tests to diagnose the DPN, the sensitivity of WS test was the highest, and the value was 0.710; but the specificity, positive predictive value, negative predictive value, Youden index, diagnostic accuracy and Kappa value of cold sensation test were the highest, and the values were 0.842, 0.746, 0.799, 0.528, 77.92% and 0.535, respectively; the Kappa values of the other three temperature sensation tests were all greater than 0.4 (P sensation tests (P sensation quantitative tests were in good agreementand could be applied to diagnose DPN; the new variable Temp4 could be used for diagnosis of DPN with a higher diagnostic accuracy.

  5. Severe pulmonary hypertension associated with the acute motor sensory axonal neuropathy subtype of Guillain-Barré syndrome.

    Science.gov (United States)

    Rooney, Kris A; Thomas, Neal J

    2010-01-01

    To evaluate pulmonary hypertension associated with acute motor sensory axonal neuropathy subtype of Guillain-Barré syndrome. Guillain-Barré syndrome consists of a group of autoimmune disorders that generally manifest as symmetric, progressive, ascending paralysis. There are five subtypes of Guillain-Barré syndrome, and autonomic involvement has been described in all subtypes, including cardiovascular, vasomotor, or pseudomotor dysfunction of both the sympathetic and parasympathetic systems. Case report. Tertiary care pediatric intensive care unit. Three-yr-old female patient. None. Serial measurements of pulmonary artery pressure. We report the case of a young girl with acute motor sensory axonal neuropathy who presented with severe cardiovascular collapse secondary to severe pulmonary hypertension. In this patient, multiple factors may have played a role in the development of pulmonary hypertension including autonomic dysfunction, hypoventilation, and immobility as a risk for thrombosis and pulmonary emboli. It is possible that many other individuals suffering from severe forms of Guillain-Barré syndrome, especially those with significant autonomic dysfunction, may actually have undiagnosed and therefore untreated pulmonary hypertension. Therefore, it is recommended that clinicians caring for critically ill children with Guillain-Barré syndrome have a high index of suspicion for pulmonary hypertension and consider echocardiography if there are clinical signs of this potentially fatal process.

  6. Evaluation and Prevention of Diabetic Neuropathy

    Directory of Open Access Journals (Sweden)

    Pajouhi M

    2007-07-01

    Full Text Available Background: Diabetic neuropathy is an incapacitating disease that afflicts almost 50 percent of patients with diabetes. A late finding in type 1 diabetes, diabetic neuropathy can be an early finding in non insulin-dependent diabetes. Diabetic neuropathies are divided primarily into two groups, sensorimotor and autonomic. Patients may acquire only one type of diabetic neuropathy or may present with combinations of neuropathies, such as autonomic neuropathy or distal symmetric polyneuropathy, the latter of which the most common form. Motor deficits, orthostatic hypotension, silent cardiac ischemia, hyperhidrosis, vasomotor instability, gastroparesis, bladder dysfunction, and sexual dysfunction can also result from diabetic neuropathy. Strict control of blood sugar, combined with proper daily foot care, is essential to avoid the complications of this disorder. With the potential to afflict any part of the nervous system, diabetic neuropathy should be suspected in all patients with type 2 diabetes as well as patients who have had type 1 diabetes for over five years. Although some patients with diabetic neuropathy notice few symptoms, upon physical examination mild to moderately severe sensory loss may be noted by the physician. Idiopathic neuropathy has been known to precede the onset of type 2 diabetes.

  7. Cardiac autonomic neuropathy predicts cardiovascular morbidity and mortality in type 1 diabetic patients with diabetic nephropathy

    DEFF Research Database (Denmark)

    Astrup, Anne Sofie; Tarnow, Lise; Rossing, Peter

    2006-01-01

    Cardiac autonomic neuropathy (CAN) has been associated with a poor prognosis in patients with diabetes. Because CAN is common in patients with diabetic nephropathy, we evaluated the predictive value of CAN in type 1 diabetic patients with and without diabetic nephropathy.......Cardiac autonomic neuropathy (CAN) has been associated with a poor prognosis in patients with diabetes. Because CAN is common in patients with diabetic nephropathy, we evaluated the predictive value of CAN in type 1 diabetic patients with and without diabetic nephropathy....

  8. Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.

    LENUS (Irish Health Repository)

    McHugh, John C

    2012-02-01

    Two siblings who developed fifth-decade-onset, concurrent progressive sensory ataxia, dysarthria, and ophthalmoparesis were found to be homozygous for the p.A467T mutation of the polymerase gamma (POLG) gene. The clinical course in both subjects was progression to severe disability. The enlarging spectrum of sensory ataxic neuropathies associated with mitochondrial DNA (mtDNA) instability and POLG mutations should be recognized and considered in the differential diagnosis of this unusual presentation.

  9. A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

    DEFF Research Database (Denmark)

    Zazo Seco, Celia; Castells-Nobau, Anna; Joo, Seol-Hee

    2017-01-01

    A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous...

  10. Treatment of diabetic neuropathy in the lower limb

    African Journals Online (AJOL)

    The classification of diabetic neuropathy can be done in several ways: clinical presentation (symmetrical, focal or multifocal, or painful, paralytic and ataxic), type of fibres affected (motor, sensory, autonomic), or painful or non-painful. The commonest presentation of peripheral neuropathy in diabetes is that of chronic ...

  11. Effect of omega-3 supplementation on neuropathy in type 1 diabetes: A 12-month pilot trial.

    Science.gov (United States)

    Lewis, Evan J H; Perkins, Bruce A; Lovblom, Leif E; Bazinet, Richard P; Wolever, Thomas M S; Bril, Vera

    2017-06-13

    To test the hypothesis that 12 months of seal oil omega-3 polyunsaturated fatty acids (ω-3 PUFA) supplementation will stop the known progression of diabetic sensorimotor polyneuropathy (DSP) in type 1 diabetes mellitus (T1DM). Individuals with T1DM and evidence of DSP as determined by a Toronto Clinical Neuropathy Score ≥1 were recruited to participate in a single-arm, open-label trial of seal oil ω-3 PUFA supplementation (10 mL·d -1 ; 750 mg eicosapentaenoic acid, 560 mg docosapentaenoic acid, and 1,020 mg docosahexaenoic acid) for 1 year. The primary outcome was the 1-year change in corneal nerve fiber length (CNFL) measured by in vivo corneal confocal microscopy, with sensory and nerve conduction measures as secondary outcomes. Forty participants (53% female), aged 48 ± 14 years, body mass index 28.1 ± 5.8 with diabetes duration of 27 ± 18 years, were enrolled. At baseline, 23 participants had clinical DSP and 17 did not. Baseline CNFL was 8.3 ± 2.9 mm/mm 2 and increased 29% to 10.1 ± 3.7 mm/mm 2 ( p = 0.002) after 12 months of supplementation. There was no change in nerve conduction or sensory function. Twelve months of ω-3 supplementation was associated with increase in CNFL in T1DM. NCT02034266. This study provides Class IV evidence that for patients with T1DM and evidence of DSP, 12 months of seal oil omega-3 supplementation increases CNFL. © 2017 American Academy of Neurology.

  12. Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients★

    Science.gov (United States)

    Li, Xiaobo; Zi, Xiaohong; Li, Lin; Zhan, Yajing; Huang, Shunxiang; Li, Jin; Li, Xuning; Li, Xigui; Hu, Zhengmao; Xia, Kun; Tang, Beisha; Zhang, Ruxu

    2012-01-01

    We used the allele-specific PCR-double digestion method on peripheral myelin protein 22 (PMP22) to determine duplication and deletion mutations in the proband and family members of one family with Charcot-Marie-Tooth disease type 1 and one family with hereditary neuropathy with liability to pressure palsies. The proband and one subclinical family member from the Charcot-Marie-Tooth disease type 1 family had a PMP22 gene duplication; one patient from the hereditary neuropathy with liability to pressure palsies family had a PMP22 gene deletion. Electron microscopic analysis of ultrathin sections of the superficial peroneal nerve from the two probands demonstrated demyelination and myelin sheath hyperplasia, as well as an ‘onion-like’ structure in the Charcot-Marie-Tooth disease type 1A patient. We observed an irregular thickened myelin sheath and ‘mouse-nibbled’-like changes in the patient with hereditary neuropathy with liability to pressure palsies. In the Charcot-Marie-Tooth disease type 1A patient, nerve electrophysiological examination revealed moderate-to-severe reductions in the motor and sensory conduction velocities of the bilateral median nerve, ulnar nerve, tibial nerve, and sural nerve. Moreover, the compound muscle action potential amplitude was decreased. In the patient with hereditary neuropathy with liability to pressure palsies, the nerve conduction velocity of the bilateral tibial nerve and sural nerve was moderately reduced, and the nerve conduction velocity of the median nerve and ulnar nerve of both upper extremities was slightly reduced. PMID:25337104

  13. [Sensori-motor neuropathy associated with congenital bilateral club feet: histological and ultrastructural study of the sural nerve].

    Science.gov (United States)

    Yoshimura, N; Fukuhara, N; Noguchi, T

    1988-09-01

    A 53-year-old female with sensori-motor neuropathy associated with bilateral club feet was reported. She was admitted because of numbness in the bilateral feet and gait disturbance. Her parents were not related. There was no family history of any neurological diseases. She had bilateral club feet which were present at birth to developed in early childhood. She could walk, but could not run. Since 5 years prior to the admission she noted gradually increasing disturbance of gait. Neurological examination revealed muscular weakness and wasting in the distal parts of the lower extremities and decreased deep tendon reflexes. There were hypesthesia, hypalgesia and dysesthesia in the lateral portions of the bilateral feet. Deep sensation was normal. There was no weakness or wasting in the upper extremities. Motor nerve conduction velocities were normal and sensory nerve conduction velocities were reduced in the median nerve. No action potentials could not be elicited in the bilateral tibial and peroneal nerves. A sural nerve biopsy showed a markedly hypertrophic perineurium, 28-150 micron thick, a large Renaut body measured 140 micron by 200 micron in diameters and a markedly reduced number of the myelinated fibers. Fiber size histogram showed many unmyelinated fibers larger than 1 micron, despite loss of fibers of the usual size. Therefore, a part of the unmyelinated fibers might be demyelinated. There were no axonal degeneration and onion-bulb formation. Segmental demyelination was found in approximately 30% of the myelinated fibers.(ABSTRACT TRUNCATED AT 250 WORDS)

  14. The natural history of hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) in 97 Japanese patients.

    Science.gov (United States)

    Fujisaki, Natsumi; Suwazono, Shugo; Suehara, Masahito; Nakachi, Ryo; Kido, Miwako; Fujiwara, Yoshihisa; Oshiro, Saki; Tokashiki, Takashi; Takashima, Hiroshi; Nakagawa, Masanori

    2018-02-01

    Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is a motor and sensory neuronopathy with autosomal dominant inheritance, adult onset, slowly progressive course, and is associated with TRK-fused gene (TFG) mutation. At advanced stages, respiratory failure and dysphagia becomes life-threatoning, and patients typically die by their 70s. Although there is currently no evidence for effective treatment, a therapy may be found by elucidation of the function of TFG. Recently its pathomechanism has been proposed to be associated with abnormalities in protein transfer from the endoplasmic reticulum. Such pathomechanisms might involve a similar process in amyotrophic lateral sclerosis; thus, its pathomechanisms and treatment strategy might make it a good model for neurodegenerative disorders. It is of great value to clarify the natural history of HMSN-P, in oder to judge the treatment effect. By evaluating 97 patients (79 out of 97 were examined and all confirmed with p.Pro 285 Leu mutation) in this study, it was confirmed that this disease follows a uniform course in the earlier stages, and there are individual differences in the onset between 20 and 30 years. Such uniformity might be due to the proposed single gene abnormality. At advanced stages, there are larger individual differences in the progression, but the reasons for these are unknown. Longer survival might be achieved with a better care for respiratory failure and dysphagia if such cares were undertaken at appropriate times.

  15. Tadalafil Promotes the Recovery of Peripheral Neuropathy in Type II Diabetic Mice.

    Directory of Open Access Journals (Sweden)

    Lei Wang

    Full Text Available We previously demonstrated that treatment of diabetic peripheral neuropathy with the short (4 hours half-life phosphodiesterase 5 (PDE5 inhibitor, sildenafil, improved functional outcome in diabetic db/db mice. To further examine the effect of PDE5 inhibition on diabetic peripheral neuropathy, we investigated the effect of another potent PDE5 inhibitor, tadalafil, on diabetic peripheral neuropathy. Tadalafil is pharmacokinetically distinct from sildenafil and has a longer half-life (17+hours than sildenafil. Diabetic mice (BKS.Cg-m+/+Leprdb/J, db/db at age 20 weeks were treated with tadalafil every 48 hours for 8 consecutive weeks. Compared with diabetic mice treated with saline, tadalafil treatment significantly improved motor and sensory conduction velocities in the sciatic nerve and peripheral thermal sensitivity. Tadalafil treatment also markedly increased local blood flow and the density of FITC-dextran perfused vessels in the sciatic nerve concomitantly with increased intraepidermal nerve fiber density. Moreover, tadalafil reversed the diabetes-induced reductions of axon diameter and myelin thickness and reversed the diabetes-induced increased g-ratio in the sciatic nerve. Furthermore, tadalafil enhanced diabetes-reduced nerve growth factor (NGF and platelet-derived growth factor-C (PDGF-C protein levels in diabetic sciatic nerve tissue. The present study demonstrates that tadalafil increases regional blood flow in the sciatic nerve tissue, which may contribute to the improvement of peripheral nerve function and the amelioration of diabetic peripheral neuropathy.

  16. Vitamin B12 deficiency is associated with cardiovascular autonomic neuropathy in patients with type 2 diabetes

    DEFF Research Database (Denmark)

    Hansen, Christian S; Jensen, Jan S; Ridderstråle, Martin

    2017-01-01

    AIMS: Vitamin B12 deficiency could be associated with cardiovascular autonomic neuropathy (CAN) in diabetes patients. We aim to investigate the association between serum levels of vitamin B12 and CAN in type 2 diabetes patients. METHODS: 469 ambulatory type 2 diabetes patients (mean diabetes dura...

  17. Integration of cell line and clinical trial genome-wide analyses supports a polygenic architecture of Paclitaxel-induced sensory peripheral neuropathy.

    Science.gov (United States)

    Wheeler, Heather E; Gamazon, Eric R; Wing, Claudia; Njiaju, Uchenna O; Njoku, Chidiamara; Baldwin, Robert Michael; Owzar, Kouros; Jiang, Chen; Watson, Dorothy; Shterev, Ivo; Kubo, Michiaki; Zembutsu, Hitoshi; Winer, Eric P; Hudis, Clifford A; Shulman, Lawrence N; Nakamura, Yusuke; Ratain, Mark J; Kroetz, Deanna L; Cox, Nancy J; Dolan, Mary Eileen

    2013-01-15

    We sought to show the relevance of a lymphoblastoid cell line (LCL) model in the discovery of clinically relevant genetic variants affecting chemotherapeutic response by comparing LCL genome-wide association study (GWAS) results to clinical GWAS results. A GWAS of paclitaxel-induced cytotoxicity was conducted in 247 LCLs from the HapMap Project and compared with a GWAS of sensory peripheral neuropathy in patients with breast cancer (n = 855) treated with paclitaxel in the Cancer and Leukemia Group B (CALGB) 40101 trial. Significant enrichment was assessed by permutation resampling analysis. We observed an enrichment of LCL cytotoxicity-associated single-nucleotide polymorphisms (SNP) in the sensory peripheral neuropathy-associated SNPs from the clinical trial with concordant allelic directions of effect (empirical P = 0.007). Of the 24 SNPs that overlap between the clinical trial (P architecture of related traits in patients. ©2012 AACR.

  18. Peripheral Neuropathy and Tear Film Dysfunction in Type 1 Diabetes Mellitus

    Directory of Open Access Journals (Sweden)

    Stuti L. Misra

    2014-01-01

    Full Text Available Purpose. To compare tear film metrics in patients with type 1 diabetes mellitus (DM and healthy controls and investigate the association between peripheral neuropathy and ocular surface quality. Methods. Dry eye symptoms were quantified in 53 patients with type 1 DM and 40 age-matched controls. Ocular examination included tear film lipid layer thickness grading, tear film stability and quantity measurement, and retinal photography. DM individuals additionally underwent a detailed neuropathy assessment. Results. Neither mean age nor dry eye symptom scores differed significantly between the DM and control groups (P=0.12 and P=0.33, resp.. Tear lipid thickness (P=0.02, stability (P<0.0001, and quantity (P=0.01 were significantly lower in the DM group. Corneal sensitivity was also reduced in the DM group (P<0.001 and tear film stability was inversely associated with total neuropathy score (r=-0.29, P=0.03. Conclusion. The DM group exhibited significantly reduced tear film stability, secretion, and lipid layer quality relative to the age-matched control group. The negative correlation between tear film parameters and total neuropathy score suggests that ocular surface abnormalities occur in parallel with diabetic peripheral neuropathy.

  19. [Association between neuropathy and peripheral vascular insufficiency in patients with diabetes mellitus type 2].

    Science.gov (United States)

    Millán-Guerrero, Rebeca O; Vásquez, Clemente; Isaís-Millán, Sara; Trujillo-Hernández, Benjamín; Caballero-Hoyos, Ramiro

    2011-01-01

    Diabetes mellitus (DM) can present complications of neuropathy and peripheral arterial disease with high risk for developing foot ulcers and consequent amputations. To identify the association between peripheral vascular disease, and neuropathy in type 2 Diabetes mellitus patients from the Hospital General de Zona No. 1 IMSS in Colima, Mexico. Cross-sectional study of 80 patients with diabetes mellitus evaluated by means of the Edinburgh Claudication Questionnaire, Michigan Neuropathy Screening Instrument, ankle-arm index, Motor Nerve Conduction Velocity and H-reflex. 51 women and 29 men were studied. Mean age was 53.9 +/- 9.6 years, mean diabetes mellitus progression was 8 +/- 6.6 years and mean glucose level was 283 +/- 110 mg/mL. Neuropathy presented in 65 patients (81.2%). Ankle/arm index revealed 19% of patients presented with moderate peripheral vascular insufficiency. Motor Nerve Conduction Velocity was abnormal in 40% of patients and H-reflex was absent in 70%. Grade 2 motor-sensitive polyneuropathy was found in 70-80% of patients and moderate peripheral vascular insufficiency in 19%. It can thus be inferred that the complication of diabetic neuropathy appears before that of peripheral vessel damage.

  20. [Diabetic neuropathy].

    Science.gov (United States)

    Chudzik, Wiesław; Kaczorowska, Beata; Przybyła, Monika; Chudzik, Bartosz; Gałka, Małgorzata

    2007-01-01

    Diabetic neuropathy is most common chronic complication of diabetes mellitus. It is responsible for substantial morbidity, increased mortality and impaired quality of life. Patogenesis of diabetic neuropathy is complex. Chronic hyperglycemia is a major factor induces nerve fibers injury. High level of glucose stimulate the polyol pathway causing osmotic stress and enhance reactive oxygen species generation, as well as it play an important role in diabetic angiopathy development. Distal symmetric polineuropathy is most common type of diabetic neuropathy. Many patient may develop combinations of neuropathies concerning somatic and autonomic system. Early diagnosis and administered suitable treatment are necessary to reduce severe complication of diabetic neuropathy as well as strict glycemic control and risk factor increased.

  1. Evaluation of diabetic polyneuropathy in Type 2 diabetes mellitus by nerve conduction study and association of severity of neuropathy with serum sFasL level

    Directory of Open Access Journals (Sweden)

    Avijit Mondal

    2012-01-01

    Full Text Available Introduction: Diabetes mellitus (DM, a growing health problem globally, has reached epidemic proportions in India. Recently, Fas-mediated apoptosis has been proposed as a causative factor responsible for neuronal degeneration in diabetic polyneuropathy (DPN, but there are very few studies to show association of serum soluble Fas ligand (sFasL level with severity of neuropathy. Aim and Objective: The aim of this study was to investigate whether serum sFasL, a transmembrane glycoprotein involved in apoptosis, has any association with severity of peripheral neuropathy in Type 2 DM. Materials and Methods: The study was conducted in Department of Physiology in collaboration with Department of Endocrinology, IPGME&R. sFasL levels in serum were assessed using ELISA method in healthy individuals (n = 16, newly diagnosed diabetic controls (n = 16 without any complications, and in DPN cases (n = 33 with predominant neuropathy only. All subjects underwent both electrodiagnostic procedures and vibration perception threshold (VPT for quantitative assessment of the severity of neuropathy. Using nerve conduction studies, amplitudes, velocities, and latencies of both sensory and motor nerves were recorded. Results: In DPN patients, concentration of sFasL levels (87.53 ± 3.49 was significantly decreased (P < 0.0001 not only when compared with normal controls (225.30 ± 2.97 but also when compared with diabetic patients without any complication (161 ± 3.63. Moreover, the concentration of sFasL is significantly (P < 0.0001 associated with the severity of neuropathy both by VPT and nerve conduction velocity (NCV. Conclusion: Fas-mediated apoptosis is involved in Type 2 DM and might be associated with the severity of polyneuropathy.

  2. Ciliary neurotrophic factor activates NF-κB to enhance mitochondrial bioenergetics and prevent neuropathy in sensory neurons of streptozotocin-induced diabetic rodents.

    Science.gov (United States)

    Saleh, Ali; Roy Chowdhury, Subir K; Smith, Darrell R; Balakrishnan, Savitha; Tessler, Lori; Martens, Corina; Morrow, Dwane; Schartner, Emily; Frizzi, Katie E; Calcutt, Nigel A; Fernyhough, Paul

    2013-02-01

    Diabetes causes mitochondrial dysfunction in sensory neurons that may contribute to peripheral neuropathy. Ciliary neurotrophic factor (CNTF) promotes sensory neuron survival and axon regeneration and prevents axonal dwindling, nerve conduction deficits and thermal hypoalgesia in diabetic rats. In this study, we tested the hypothesis that CNTF protects sensory neuron function during diabetes through normalization of impaired mitochondrial bioenergetics. In addition, we investigated whether the NF-κB signal transduction pathway was mobilized by CNTF. Neurite outgrowth of sensory neurons derived from streptozotocin (STZ)-induced diabetic rats was reduced compared to neurons from control rats and exposure to CNTF for 24 h enhanced neurite outgrowth. CNTF also activated NF-κB, as assessed by Western blotting for the NF-κB p50 subunit and reporter assays for NF-κB promoter activity. Conversely, blockade of NF-κB signaling using SN50 peptide inhibited CNTF-mediated neurite outgrowth. Studies in mice with STZ-induced diabetes demonstrated that systemic therapy with CNTF prevented functional indices of peripheral neuropathy along with deficiencies in dorsal root ganglion (DRG) NF-κB p50 expression and DNA binding activity. DRG neurons derived from STZ-diabetic mice also exhibited deficiencies in maximal oxygen consumption rate and associated spare respiratory capacity that were corrected by exposure to CNTF for 24 h in an NF-κB-dependent manner. We propose that the ability of CNTF to enhance axon regeneration and protect peripheral nerve from structural and functional indices of diabetic peripheral neuropathy is associated with targeting of mitochondrial function, in part via NF-κB activation, and improvement of cellular bioenergetics. Copyright © 2012 Elsevier Ltd. All rights reserved.

  3. Painful peripheral neuropathy

    Directory of Open Access Journals (Sweden)

    SUN Bo

    2013-09-01

    Full Text Available Painful peripheral neuropathy (PPN is characterized by neuropathic pain (NP, which is accompanied by dysfunction of motor, sensory and autonomic nervous system. It always involves small nerve fibers, including A δ and C fibers. PPN can be classified into two types according to etiology: hereditary and acquired. Pain of PPN can manifest as spontaneous pain and stimulus-evoked pain (allodynia, hyperalgesia and hyperpathia. The manifestation of typical cases is length-dependent, which firstly involves the feet, and then progresses proximally and to the hands, presenting a glove-stock pattern. PPN can be either an isolated disease entity or part of other diseases. The former indicates idiopathic small fiber neuropathy (SFN, while the latter contains various diseases involving peripheral nerve fibers, including systemic diseases such as diabetes mellitus and peripheral neuropathy with other causes. The accessory examinations of PPN include quantitative sensory testing (QST, intraepidermal nerve fiber density (IENFD, sympathetic skin response (SSR, etc. Among them, IENFD is the "golden standard" for SFN. The major therapeutic methods are to control primary diseases and relieve pain. Medications alleviating neuropathic pain consist of carbamazepine, pregabalin, gabapentin and amitriptyline, etc.

  4. Utility of quantitative sensory testing and screening tools in identifying HIV-associated peripheral neuropathy in Western Kenya: pilot testing.

    Directory of Open Access Journals (Sweden)

    Deanna Cettomai

    2010-12-01

    Full Text Available Neuropathy is the most common neurologic complication of HIV but is widely under-diagnosed in resource-constrained settings. We aimed to identify tools that accurately distinguish individuals with moderate/severe peripheral neuropathy and can be administered by non-physician healthcare workers (HCW in resource-constrained settings.We enrolled a convenience sample of 30 HIV-infected outpatients from a Kenyan HIV-care clinic. A HCW administered the Neuropathy Severity Score (NSS, Single Question Neuropathy Screen (Single-QNS, Subjective Peripheral Neuropathy Screen (Subjective-PNS, and Brief Peripheral Neuropathy Screen (Brief-PNS. Monofilament, graduated tuning fork, and two-point discrimination examinations were performed. Tools were validated against a neurologist's clinical assessment of moderate/severe neuropathy.The sample was 57% male, mean age 38.6 years, and mean CD4 count 324 cells/µL. Neurologist's assessment identified 20% (6/30 with moderate/severe neuropathy. Diagnostic utilities for moderate/severe neuropathy were: Single-QNS--83% sensitivity, 71% specificity; Subjective-PNS-total--83% sensitivity, 83% specificity; Subjective-PNS-max and NSS--67% sensitivity, 92% specificity; Brief-PNS--0% sensitivity, 92% specificity; monofilament--100% sensitivity, 88% specificity; graduated tuning fork--83% sensitivity, 88% specificity; two-point discrimination--75% sensitivity, 58% specificity.Pilot testing suggests Single-QNS, Subjective-PNS, and monofilament examination accurately identify HIV-infected patients with moderate/severe neuropathy and may be useful diagnostic tools in resource-constrained settings.

  5. Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation.

    Science.gov (United States)

    Castori, Marco; Morlino, Silvia; Ungelenk, Martin; Pareyson, Davide; Salsano, Ettore; Grammatico, Paola; Tolosano, Emanuela; Kurth, Ingo; Chiabrando, Deborah

    2017-10-01

    FLVCR1 encodes for a ubiquitous heme exporter, whose recessive mutations cause posterior column ataxia with retinitis pigmentosa (PCARP). Recently, FLVCR1 recessive mutations were also found in two sporadic children with hereditary sensory-autonomic neuropathy (HSAN). We report the unique case of a 33-year-old Italian woman with a combination of typical PCARP, sensory-autonomic neuropathy with sensory loss to all modalities and multiple autonomic dysfuctions, and acute lymphocytic leukemia. Molecular analysis demonstrated homozygosity for the previously identified FLVCR1 p.Pro221Ser variation. The same variation, in combination with a frameshift mutation, was previously identified in an Italian child with HSAN. Functional studies carried out on patient-derived lymphoblastoid cell lines showed decreased FLVCR1a transcript, increased reactive oxygen species, excessive intracellular heme accumulation, and increased number of Annexin V positive cells. This indicates that the homozygous p.Pro221Ser FLVCR1 variation compromises the ability of FLVCR1a to export heme leading to enhanced susceptibility to programmed cell death. Our study demonstrates the existence of a phenotypic continuum among the discrete disorders previously linked to FLVCR1 mutations, and suggests that the related alteration of heme metabolism may lead to the degeneration of specific neuronal cell populations. © 2017 Wiley Periodicals, Inc.

  6. Plasma adrenaline kinetics in type 1 (insulin-dependent) diabetic patients with and without autonomic neuropathy

    DEFF Research Database (Denmark)

    Dejgaard, A; Hilsted, J; Henriksen, Jens Henrik Sahl

    1989-01-01

    Plasma adrenaline kinetics (clearance, extraction across the forearm, initial plasma disappearance rate, mean sojourn time, volume of distribution) were studied in sixteen Type 1 (insulin-dependent) diabetic patients during constant i.v. infusion of tritium labelled adrenaline. In patients with (n...... = 8) and without (n = 8) neuropathy forearm venous plasma noradrenaline and adrenaline concentrations as well as plasma clearance of adrenaline based on arterial sampling (1.7 vs 2.1 l/min) were not significantly different. The initial disappearance time (T 1/2) after the infusion of the tritium...... labelled adrenaline had been stopped was significantly prolonged in Type 1 diabetic patients with neuropathy compared to those without (after 20 min infusion 2.7 vs 2.2 min, p less than 0.02, after 75 min infusion 3.7 vs 2.9 min, p less than 0.05). The corresponding values for the mean sojourn time...

  7. Cardiovascular autonomic neuropathy is associated with macrovascular risk factors in type 2 diabetes

    DEFF Research Database (Denmark)

    Fleischer, Jesper; Yderstræde, Knud Bonnet; Gulichsen, Elisabeth

    2014-01-01

    by performing 3 cardiovascular reflex tests (response to standing, deep breathing, and valsalva). To describe possible associations, multivariate analysis with CAN as the dependent variable was performed. The prevalence of CAN was higher among patients with type 2 diabetes (35%) compared to patients with type 1......The objective was to identify the presence of cardiovascular autonomic neuropathy (CAN) in a cohort of individuals with diabetes in outpatient clinics from 4 different parts of Denmark and to explore the difference between type 1 and type 2 diabetes in relation to CAN. The DAN-Study is a Danish...

  8. Oral dryness and peripheral neuropathy in subjects with type 2 diabetes.

    Science.gov (United States)

    Sandberg, Gun E; Wikblad, Karin F

    2003-01-01

    Two common complaints related to diabetes mellitus are oral dryness (xerostomia) and peripheral neuropathy (PN) and there is some evidence of a relationship between them. Therefore, we formulated a hypothesis that type 2 diabetic subjects with xerostomia in our study also exhibited PN. The study included 102 randomly sampled type 2 diabetic patients from a healthcare district in mid-Sweden. Besides clinical and X-ray examinations, patients were asked whether they experienced oral dryness. PN was defined through thorough foot examination and the use of a modified neuropathy symptom score (NSS) and neuropathy disability score (NDS). Other diabetes-related variables were extracted from medical records. More than half of the individuals (53.5%) reported oral dryness and 23.8% were diagnosed with PN. None of the variables in a stepwise regression analysis could explain the variance in oral dryness, besides "pain in the legs," which contributed with 5% to the explanation. Our hypothesis that type 2 diabetic subjects with xerostomia also were affected with PN could not be verified in this study, but the results must be interpreted with caution as relatively few subjects were affected with both oral dryness and PN (13.8%). Further and larger controlled studies are needed before the hypothesis can be definitely rejected. Despite our incomplete understanding about the relation between oral dryness and PN, professionals in oral health as well as in primary health have to strive for increased knowledge in this field.

  9. [A case report of bilateral trigeminal sensory neuropathy as one of the initial manifestation of systemic scleroderma (the difficulties of early diagnosis of the primary disease)].

    Science.gov (United States)

    Grachev, Ju V; Anan'eva, L P; Tjurnikov, V M; Zaharova, A Ju

    2015-01-01

    The article describes the case of a patient with bilateral trigeminal sensory neuropathy (TSN), as a possible neurological manifestation of systemic scleroderma (SS). In this patient, intense non-paroxysmal facial pain caused by TSN, subjectively dominated over other manifestations of SS, including Raynaud's syndrome, for at least 1.5 years, thus hampering the diagnosis of the primary disease. In addition to pain, which was not relieved by analgesic medication, TSN was manifested by marked sensory deficit on the face (hypoesthesia / anesthesia) and bilateral sensory deficits in the oral cavity, including the anterior third of the tongue. TSN was also combined with disorders of taste perception. The assumption of rheumatic origin of TSN occurred during a primary neurological examination: a standard examination revealed generalized sensory polyneuropathy with bilateral involvement of the trigeminal nerve; the additional study identified no neurological signs of rheumatic diseases, including Raynaud's phenomenon. SS met all the criteria for the diagnosis (2013), high titers of nuclear ribonucleoprotein were determined as well. Thus, TSN as early and subjectively dominant manifestation of SS can complicate the diagnosis of primary rheumatic diseases. Therefore, in cases of distal sensory polyneuropathy with bilateral involvement of the trigeminal nerve, it is necessary to conduct an additional survey to identify the signs of possible rheumatic diseases: signs of vascular lesion (Raynaud's syndrome), lesions of skin, joints and muscles.

  10. Pharmacological treatment of painful HIV-associated sensory neuropathy: a systematic review and meta-analysis of randomised controlled trials.

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    Tudor J C Phillips

    Full Text Available BACKGROUND: Significant pain from HIV-associated sensory neuropathy (HIV-SN affects ∼40% of HIV infected individuals treated with antiretroviral therapy (ART. The prevalence of HIV-SN has increased despite the more widespread use of ART. With the global HIV prevalence estimated at 33 million, and with infected individuals gaining increased access to ART, painful HIV-SN represents a large and expanding world health problem. There is an urgent need to develop effective pain management strategies for this condition. METHOD AND FINDINGS: OBJECTIVE: To evaluate the clinical effectiveness of analgesics in treating painful HIV-SN. DESIGN: Systematic review and meta-analysis. DATA SOURCES: Medline, Cochrane central register of controlled trials, www.clinicaltrials.gov, www.controlled-trials.com and the reference lists of retrieved articles. SELECTION CRITERIA: Prospective, double-blinded, randomised controlled trials (RCTs investigating the pharmacological treatment of painful HIV-SN with sufficient quality assessed using a modified Jadad scoring method. REVIEW METHODS: Four authors assessed the eligibility of articles for inclusion. Agreement of inclusion was reached by consensus and arbitration. Two authors conducted data extraction and analysis. Dichotomous outcome measures (≥ 30% and ≥ 50% pain reduction were sought from RCTs reporting interventions with statistically significant efficacies greater than placebo. These data were used to calculate RR and NNT values. RESULTS: Of 44 studies identified, 19 were RCTs. Of these, 14 fulfilled the inclusion criteria. Interventions demonstrating greater efficacy than placebo were smoked cannabis NNT 3.38 95%CI(1.38 to 4.10, topical capsaicin 8%, and recombinant human nerve growth factor (rhNGF. No superiority over placebo was reported in RCTs that examined amitriptyline (100mg/day, gabapentin (2.4 g/day, pregabalin (1200 mg/day, prosaptide (16 mg/day, peptide-T (6 mg/day, acetyl-L-carnitine (1g

  11. The Prevalence of diabetic optic neuropathy in type 2 diabetes mellitus

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    Ali A. Taqi Al-Saffar

    2017-12-01

    Full Text Available Background and objective: As diabetes mellitus a common health problem, it is well known that it can lead to optic neuropathy that affects the optic nerve functions. It is important to monitor the effect of this metabolic disease on the optic nerve that can lead ultimately to decrease visual acuity that can be irreversible. This study aimed to find out the prevalence of diabetic optic nerve diseases and to evaluate the patient characteristics and fundus findings. Methods: Screening examination was done for 2213 patients with type 2 diabetic patients presented to the diabetic center from October 2007 to September 2009. The examination includes visual acuity test using conventional E chart, slit lamp exam, followed by installing short acting Mydriatics (tropicamide 1% eye drops for fundoscopy examination using +76.D or +90 D. Results: Eighty eight patients (approximately 4% had optic nerve problems; 50 females and 38 males. The mean age was 59 years. A total of 58 (116 eyes patients were bilaterally affected, 42 patients with optic papillopathy, 8 patients with anterior ischemic optic neuropathy and profound loss of vision, 8 with glaucomatous cupping and pallor and 30 patients with end stage optic atrophy. A total of 63 (71.5% patients had poor metabolic control. Conclusions: Patients with type 2 diabetes mellitus have 4% prevalence of diabetic optic neuropathy.

  12. Cardiovascular autonomic neuropathy contributes to sleep apnea in young and lean Type 1 Diabetes Mellitus patients

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    Carolina Castro Porto Silva Janovsky

    2014-08-01

    Full Text Available Sleep apnea in type 1 diabetes mellitus (T1DM is a crescent theme of discussion. In obese patient, it is explained by the excessive central adiposity, including large neck circumference. Its presence in nonobese patients, however, brings back its possible correlation with autonomic neuropathy. The aim of this study was to compare the prevalence of OSA in young and lean T1DM, with and without cardiovascular autonomic neuropathy (CAN. We studied 20 adult, nonobese, type 1 diabetic patients, divided in two groups according to the results of the cardiovascular autonomic reflex tests (CARTs. These two groups (9 with CAN and 11 without CAN were compared to a control group of 22 healthy individuals, matched by age and BMI. A polysomnography was performed and sleep was analyzed. The CAN+ group presented significantly higher prevalence of sleep apnea compared to the other groups (67% CAN+; 23% CAN-; 4,5% controls: CAN+ vs Control; p=0.00017 and CAN+ vs CAN-; p=0.02. As it was expected, the incidence of sleep apnea was correlated with more microarousals during sleep and excessive daytime sleepiness. The CAN- group showed a better sleep efficiency compared to the CAN+ group, demonstrating impaired sleep architecture in diabetics with this chronic complication. In conclusion, sleep apnea could not only be an indication of presence of CAN, but also a contributor to diabetic neuropathy impairment, causing both worse prognosis and reduced quality of life for these patients when not treated.

  13. Incidence of re-amputation following partial first ray amputation associated with diabetes mellitus and peripheral sensory neuropathy: a systematic review.

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    Sara L. Borkosky

    2012-01-01

    Full Text Available Diabetes mellitus with peripheral sensory neuropathy frequently results in forefoot ulceration. Ulceration at the first ray level tends to be recalcitrant to local wound care modalities and off-loading techniques. If healing does occur, ulcer recurrence is common. When infection develops, partial first ray amputation in an effort to preserve maximum foot length is often performed. However, the survivorship of partial first ray amputations in this patient population and associated re-amputation rate remain unknown. Therefore, in an effort to determine the actual re-amputation rate following any form of partial first ray amputation in patients with diabetes mellitus and peripheral neuropathy, the authors conducted a systematic review. Only studies involving any form of partial first ray amputation associated with diabetes mellitus and peripheral sensory neuropathy but without critical limb ischemia were included. Our search yielded a total of 24 references with 5 (20.8% meeting our inclusion criteria involving 435 partial first ray amputations. The weighted mean age of patients was 59 years and the weighted mean follow-up was 26 months. The initial amputation level included the proximal phalanx base 167 (38.4% times; first metatarsal head resection 96 (22.1% times; first metatarsal-phalangeal joint disarticulation 53 (12.2% times; first metatarsal mid-shaft 39 (9% times; hallux fillet flap 32 (7.4% times; first metatarsal base 29 (6.7% times; and partial hallux 19 (4.4% times. The incidence of re-amputation was 19.8% (86/435. The end stage, most proximal level, following re-amputation was an additional digit 32 (37.2% times; transmetatarsal 28 (32.6% times; below-knee 25 (29.1% times; and LisFranc 1 (1.2% time. The results of our systematic review reveal that one out of every five patients undergoing any version of a partial first ray amputation will eventually require more proximal re-amputation. These results reveal that partial first ray

  14. The effects of isometric exercises and stretching on postural stability in Non–Insulin Dependent Diabetes Mellitus patients with diffuse symmetrical sensory motor neuropathy

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    S. Nenkova

    2009-02-01

    Full Text Available The purpose of this study was to explore the effects of isometric exercises and stretching on postural stability in Non – Insulin Dependent Diabetes Mellitus (NIDDM patients with diffuse symmetrical sensory motor neuropathy. Patients were assigned to an experimental group and amatched control group. The experimental group received isometric exer-cises and stretching three times weekly for 12 weeks in addition to routine medication and dietary advice. A t the end of this period, this group wascompared with the control group, which received routine medication anddietary advice only. Measurements of muscle strength of quadriceps, ham-strings, ankle plantar and dorsiflexors, and Romberg’s test for postural sta-bility were carried out before and after the 12 weeks intervention. The study showed that isometric exercises and stretching for the lower extremities improved postural stability (p = 0.00and strength of the quadriceps (p = 0.001 hamstrings (p = 0.001 dorsiflexors (p = 0.001 plantarflexors (p = 0.001in NIDDM patients with diffuse symmetrical sensory motor neuropathy. This exercise regimen also had a loweringeffect on blood glucose level (p = 0.00.  In conclusion it seems that the simple exercise intervention described in thisstudy may be of benefit to these patients if incorporated into their management programmes.

  15. Consumers' sensory and nutritional perceptions of three types of milk

    NARCIS (Netherlands)

    Bus, A.E.M.; Worsley, A.

    2003-01-01

    Objective: To identify consumer perceptions of whole milk, reduced-fat milk and soy milk, and to investigate demographic influences on perceptions and types of milk consumption. Design and setting: Questionnaires covering nutritional and sensory perceptions of three types of milk. Subjects: Three

  16. Intrathecal administration of IGF-I by AAVrh10 improves sensory and motor deficits in a mouse model of diabetic neuropathy

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    Judit Homs

    2014-01-01

    Full Text Available Different adeno-associated virus (AAV serotypes efficiently transduce neurons from central and peripheral nervous systems through various administration routes. Direct administration of the vectors to the cerebrospinal fluid (CSF could be an efficient and safe strategy. Here, we show that lumbar puncture of a nonhuman AAV leads to wide and stable distribution of the vector along the spinal cord in adult mice. AAVrh10 efficiently and specifically infects neurons, both in dorsal root ganglia (60% total sensory neurons and in the spinal cord (up to one-third of α-motor neurons. As a proof of concept, we demonstrate the efficacy of AAVrh10 in a mouse model of diabetic neuropathy, in which intrathecal delivery of the vector coding for insulin-like growth factor (IGF-I favored the release of the therapeutic protein into the CSF through its expression by sensory and motor neurons. IGF-I–treated diabetic animals showed increased vascular endothelial growth factor expression, activation of Akt/PI3K pathway, and stimulated nerve regeneration and myelination in injured limbs. Moreover, we achieved restoration of nerve conduction velocities in both sensory and motor nerves by AAVrh10, whereas we reached only sensory nerve improvement with AAV1. Our results indicate that intrathecal injection of AAVrh10 is a promising tool to design gene therapy approaches for sensorimotor diseases.

  17. Obesity and symptoms suggestive of gastroparesis in patients with type 2 diabetes and neuropathy.

    Science.gov (United States)

    Boaz, Mona; Kislov, Julia; Dickman, Ram; Wainstein, Julio

    2011-01-01

    Associated with neuropathy, symptoms suggestive of gastroparesis are common in patients with type 2 diabetes mellitus (T2DM) and include nausea, vomiting, bloating and early satiety. Gastric motor abnormalities have been reported in obese patients, and obesity is associated with T2DM. An association between obesity and gastroparesis symptoms in diabetic patients with neuropathy has not been investigated. In this nested case-control study, 161 patients with neuropathy were identified from within a cross-sectional survey of 380 T2DM patients. Of these, 134 (83.2%, "cases") had at least one cardinal symptom suggestive of gastroparesis. The remaining symptom-free subjects served as controls. Logistic and general linear modeling was used to assess associations between obesity and the presence and number of symptoms. Subjects were 66.6±10 years of age. Cases were significantly more likely than controls to be obese (89% vs. 77%, P=.04), female (55.6% vs. 33.3%) and hypertensive (90.2% vs. 63%, P=.001) and to report adherence to diet (87.4% vs. 66.7%, P=.007). In a logistic regression model including sex, hypertension, antiaggregant therapy, adherence to diet therapy and an obesity-by-sex interaction term, obesity emerged as a significant independent predictor of any cardinal symptom suggestive of gastroparesis (odds ratio 9.86, 95% confidence interval 1.4-69.2, P=.02). Obesity was also identified as a significant independent predictor of number of cardinal symptoms suggestive of gastroparesis in the general linear model. Obese subjects reported significantly more early satiety (61.5% vs. 35.2%, P=.001), fullness (63.7% vs. 40.8%, P=.004), bloating (70.3% vs. 49.3%, P=.006) and abdominal distention (71.4 vs. 50.7%, P=.007) than nonobese subjects. Further, obese subjects reported more cardinal symptoms suggestive of gastroparesis symptoms (4.2±2.4 vs. 3.1±2.5, P=.01). Obesity emerged as a significant independent predictor of cardinal symptoms suggestive of gastroparesis

  18. Relationships between Brachial-Ankle Pulse Wave Velocity and Peripheral Neuropathy in Type 2 Diabetes

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    Byung Kil Ha

    2012-12-01

    Full Text Available BackgroundBrachial-ankle pulse wave velocity (baPWV is known to be a good surrogate marker of clinical atherosclerosis. Atherosclerosis is a major predictor for developing neuropathy. The goal of this study was to determine the relationship between baPWV and diabetic peripheral neuropathy (DPN in patients with type 2 diabetes.MethodsA retrospective cross-sectional study was conducted involving 692 patients with type 2 diabetes. The correlation between increased baPWV and DPN, neurological symptoms, and neurological assessment was analyzed. DPN was examined using the total symptom score (TSS, ankle reflexes, the vibration test, and the 10-g monofilament test. DPN was defined as TSS ≥2 and an abnormal neurological assessment. Data were expressed as means±standard deviation for normally distributed data and as median (interquartile range for non-normally distributed data. Independent t-tests or chi-square tests were used to make comparisons between groups, and a multiple logistic regression test was used to evaluate independent predictors of DPN. The Mantel-Haenszel chi-square test was used to adjust for age.ResultsPatients with DPN had higher baPWV and systolic blood pressure, and were more likely to be older and female, when compared to the control group. According to univariate analysis of risk factors for DPN, the odds ratio of the baPWV ≥1,600 cm/sec was 1.611 (95% confidence interval [CI], 1.072 to 2.422; P=0.021 and the odds ratio in female was 1.816 (95% CI, 1.195 to 2.760; P=0.005.ConclusionIncreased baPWV was significantly correlated with peripheral neuropathy in patients with type 2 diabetes.

  19. Plasma adrenaline kinetics in type 1 (insulin-dependent) diabetic patients with and without autonomic neuropathy

    DEFF Research Database (Denmark)

    Dejgaard, A; Hilsted, J; Henriksen, Jens Henrik Sahl

    1989-01-01

    Plasma adrenaline kinetics (clearance, extraction across the forearm, initial plasma disappearance rate, mean sojourn time, volume of distribution) were studied in sixteen Type 1 (insulin-dependent) diabetic patients during constant i.v. infusion of tritium labelled adrenaline. In patients with (n...... = 8) and without (n = 8) neuropathy forearm venous plasma noradrenaline and adrenaline concentrations as well as plasma clearance of adrenaline based on arterial sampling (1.7 vs 2.1 l/min) were not significantly different. The initial disappearance time (T 1/2) after the infusion of the tritium...

  20. Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy.

    Science.gov (United States)

    Thomas, Florian P; Guergueltcheva, Velina; Gondim, Francisco A A; Tournev, Ivailo; Rao, Chitharanjan V; Ishpekova, Boryana; Kinsella, Laurence J; Pan, Yi; Geller, Thomas J; Litvinenko, Ivan; De Jonghe, Peter; Scherer, Steven S; Jordanova, Albena

    2016-03-01

    Dominant intermediate Charcot-Marie-Tooth neuropathy subtype C (DI-CMTC) was associated with mutations in the YARS gene, encoding tyrosyl-tRNA synthetase, in two large unrelated Bulgarian and US pedigrees and one sporadic case. Here for the first time we describe the clinical, neurophysiological and histopathological features, and phenotypic differences between these two DI-CMTC families. Twenty-one affected individuals from the US family and 27 from the Bulgarian family were evaluated. The mean age of onset in US subjects was 10.7 years in men and 7.3 years in women, while in the Bulgarian participants it was 18.2 years in men and 33.7 years in women. The course was slowly progressive. Extensor digitorum brevis atrophy was uniform. Atrophy and/or weakness of upper and lower limb muscles were found in over 50 % of the subjects. Nerve conduction studies (NCS) were abnormal in all US adults and five of six children and all Bulgarian patients except one asymptomatic 25-year-old man. Median motor NCS were in the range of 29.5-45.6 m/s in the US family and 24.7-57.8 m/s in the Bulgarian family. Sural sensory nerve action potentials were absent in 14/21 and 4/12 NCS from adult US and Bulgarian participants, respectively. Analysis of sural nerve biopsies from US patients revealed age-dependent morphological changes of axonal degeneration, absence of onion bulbs, and <10 % fibers with segmental remyelination. Our findings provide further insights into the diagnosis and pathology of intermediate CMT. They also extend the phenotypic spectrum of peripheral neuropathies associated with aminoacyl-tRNA synthetase mutations.

  1. Neuropad for the detection of cardiovascular autonomic neuropathy in patients with type 2 diabetes.

    Science.gov (United States)

    Mendivil, Carlos O; Kattah, William; Orduz, Arturo; Tique, Claudia; Cárdenas, José L; Patiño, Jorge E

    2016-01-01

    Cardiovascular autonomic neuropathy (CAN) is a prevalent and neglected chronic complication of diabetes, with a large impact on morbidity and mortality. Part of the reason why it is not detected and treated opportunely is because of the complexity of the tests required for its diagnosis. We evaluated the Neuropad®, a test based on sudomotor function, as a screening tool for CAN in adult patients with type 2 diabetes in Bogotá, Colombia. This was a cross-sectional evaluation of Neuropad® for the detection of CAN. Patients were 20-75years of age and did not suffer from any other type of neuropathy. CAN was diagnosed using the Ewing battery of tests for R-R variability during deep breathing, Valsalva and lying-to-standing maneuvers. Additionally, distal symmetric polyneuropathy (DSP) was diagnosed using a sign-based scale (Michigan Neuropathy Disability Score - NDS) and a symptom-based score (Total Symptom Score - TSS). The primary outcome was the sensitivity and specificity of the Neuropad® for the diagnosis of CAN, and secondary outcomes were the sensitivity and specificity of Neuropad® for DSP. We studied 154 patients (74 men and 80 women). Prevalence of CAN was extremely high (68.0% of study participants), but also DSP was prevalent, particularly according to the signs-based definition (45%). The sensitivity of the Neuropad® for any degree of CAN was 70.1%, being slightly higher for the deep breathing and Valsalva tests than for lying-to-standing. The specificity of the Neuropad® for any type of CAN was only 37.0%, as expected for a screening exam. The negative predictive value was higher for the deep breathing and Valsalva tests (69.4 and 81.6%, respectively). Neuropad showed also a good sensitivity and negative predictive value for DSP. The sensitivity and specificity of Neuropad were better among men, and among patients with diabetes duration above the group median. The Neuropad is a simple and inexpensive device that demonstrated an adequate performance

  2. Persisting nutritional neuropathy amongst former war prisoners.

    Science.gov (United States)

    Gill, G V; Bell, D R

    1982-01-01

    Of 898 former Far East prisoners of war, assessed between 1968 and 1981, 49 (5.5%) had evidence of persisting symptomatic neurological disease dating back to their periods of malnutrition in captivity. The commonest syndromes were peripheral neuropathy (often of "burning foot" type), optic atrophy, and sensori-neural deafness. Though nutritional neuropathies disappeared soon after release in most ex-Far East prisoners of war, in some they have persisted up to 36 years since exposure to the nutritional insult. PMID:6292369

  3. Self-Reported Physical Activity Using the International Physical Activity Questionnaire (IPAQ) in Australian Adults with Type 2 Diabetes, with and Without Peripheral Neuropathy

    OpenAIRE

    Nolan, Rebecca C.; Raynor, Annette J.; Berry, Narelle M.; May, Esther J.

    2016-01-01

    Objective: The aim of this study was to survey the level of self-reported physical activity in people with type 2 diabetes, with and without peripheral neuropathy. Methods: A sample of South Australian adults (n=481) aged 33-88 years with type 2 diabetes, including 55 people with peripheral neuropathy, completed the International Physical Activity Questionnaire (IPAQ). Levels of self-reported physical activity were compared between those with and without peripheral neuropathy. Results: People...

  4. Diabetic Retinopathy Is Strongly Predictive of Cardiovascular Autonomic Neuropathy in Type 2 Diabetes.

    Science.gov (United States)

    Huang, Chih-Cheng; Lee, Jong-Jer; Lin, Tsu-Kung; Tsai, Nai-Wen; Huang, Chi-Ren; Chen, Shu-Fang; Lu, Cheng-Hsien; Liu, Rue-Tsuan

    2016-01-01

    A well-established, comprehensive, and simple test battery was used here to re-evaluate risk factors for cardiovascular autonomic neuropathy (CAN) in type 2 diabetes. One hundred and seventy-four patients with type 2 diabetes were evaluated through the methods of deep breathing and Valsalva maneuver for correlation with factors that might influence the presence and severity of CAN. The Composite Autonomic Scoring Scale (CASS) was used to grade the severity of autonomic impairment, and CAN was defined as a CASS score ≥2. Results showed that nephropathy, duration of diabetes, blood pressure, uric acid, and the presence of retinopathy and metabolic syndrome significantly correlated with the CASS score. Age may not be a risk factor for diabetic CAN. However, the effects of diabetes on CAN are more prominent in younger patients than in older ones. Diabetic retinopathy is the most significant risk factor predictive of the presence of CAN in patients with type 2 diabetes.

  5. Anemia, bilirubin, and cardiovascular autonomic neuropathy in patients with type 2 diabetes.

    Science.gov (United States)

    Chung, Jin Ook; Park, Seon-Young; Cho, Dong Hyeok; Chung, Dong Jin; Chung, Min Young

    2017-04-01

    To investigate the relationship among anemia, physiological serum bilirubin levels, and cardiovascular autonomic neuropathy (CAN) in subjects with type 2 diabetes. In total, 2230 subjects with type 2 diabetes were evaluated in this cross-sectional study. CAN was diagnosed with a cardiovascular reflex test. The prevalence of anemia was greater in subjects with CAN. In multivariable analysis, the relationship between anemia and CAN remained statistically significant after adjusting for the risk factors (odds ratio [OR] 1.39; 95% confidence interval [CI] 1.07-1.80, P = .015). Additional adjustment for serum bilirubin concentrations abolished this relationship (OR 1.20, 95% CI 0.91-1.58, P = .189). Anemia is positively associated with the prevalence of CAN in subjects with type 2 diabetes. In addition, our results suggest that the putative increased CAN risk associated with anemia might be mediated by a correlated decrease in serum bilirubin levels.

  6. Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation.

    Science.gov (United States)

    Doppler, Kathrin; Kunstmann, Erdmute; Krüger, Stefan; Sommer, Claudia

    2017-05-01

    Charcot-Marie-Tooth neuropathy (CMT) 2E/1F is caused by mutations in the neurofilament light-chain polypeptide (NEFL) gene. Giant axons are a histological hallmark frequently seen in nerves of patients with CMT2E. We describe the case of a 43-year-old patient with a painful, predominantly sensory neuropathy. The patient's sural nerve biopsy showed multiple giant axons. Genetic sequencing of the NEFL gene revealed that the patient was heterozygous for an altered sequence of the gene, c.816C>G, p.Asn272Lys, which has not yet been described in CMT2E/1F. In contrast to other cases of CMT2E/1F, where motor symptoms are predominant, pain was the most disabling symptom in this patient. Muscle Nerve 55: 752-755, 2017. © 2016 Wiley Periodicals, Inc.

  7. Subclinical peripheral neuropathy in type 1 diabetic adolescents and its relationship with metabolic control

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    Sajić Silvija

    2005-01-01

    Full Text Available Professional management of paediatric diabetology, according to consensus guidelines, involves the screening of micro-vascular complications at puberty. The subclinical form of peripheral neural dysfunction in diabetic teenagers is reported with a frequency of 50-88%, by different authors. The purpose of this study was to evaluate the frequency of subclinical distal neuropathy (DSMN in type 1 diabetic pediatric patients during the second decade of life, and its relationship with metabolic control. The Endocrinology Department and the Neurology-Physiology Laboratory of the Pediatric Clinic in Belgrade carried out a longitudinal follow-up study (lasting 18 months, beginning in November 2000 on a selection of patients with poor metabolic control. During routine clinical treatment, patients were evaluated using the electrophysiological diagnostic method on peripheral neural dysfunction, a subclinical form of neuropathy. Metabolic control was manifested through HbA1c levels, measured every 3 months, using ion-exchange chromatography. Finally, here is the data collected from the clinical follow-up investigation of 60 children, aged 13-19 (median 1S.S±2.2, with duration of diabetes from 2-16 years (median b.3±3.b, and on the following therapies: 43 CT-conventional and 17 IIT-intensive, and insulin dose/day, median 1.02 (0.6-2.1 U/kg. Detected DSMN parameters at the beginning and at the end of the study were also noted. DSMN frequency was positive, at 64% for HbA1c of 9.44; DSMN dysfunction was reversed in 5% of the patients, for HbA1c of 10.17; the worst result was the progression of DSMN at 6.7% for HbA1c of 10.52; 6.7% had negative DSMN, with improved metabolic control, for HbA1c of 8.4; 15% of the examinations were unfinished (+/*. ANOVA statistical analysis showed a significant statistical relationship between metabolic control (HbA1c levels and DSMN neuropathy (sig. 0.043, p<0.05. There was no significant relationship between the reversion of

  8. Dyslipidemia as a contributory factor in etiopathogenesis of diabetic neuropathy

    Directory of Open Access Journals (Sweden)

    Fakhir S Al-Ani

    2011-01-01

    Full Text Available Objectives: The pathogenesis of neuropathy in type 2 diabetes mellitus is multifactorial.Dyslipidemia may contribute to the development of diabetic neuropathy. This study aimed to assess the atherogenic lipid indices in type 2 diabetic patients with neuropathy.Material and Methods: Fifty-one patients with type 2 diabetes mellitus and 31 healthy subjects were studied in the Unit of Neurophysiology at the University Hospital of Medical College, Al-Nahrin University in Baghdad, Iraq, from January 2002 to January 2003. Neuropathy total symptom score (NTSS, neuropathy impairment score in the lower leg (NIS-LL, and electrophysiological study of sensory (ulnar and sural and motor (ulnar and common peroneal nerves were used to assess nerve function. Fasting venous blood was obtained from each participant for determination of lipid profile and atherogenic lipid ratios. Results: The frequency of high blood pressure was significantly higher in neuropathic patients. The electrophysiology study revealed significant decrease in conduction velocity of ulnar (sensory and motor components, sural, and common peroneal nerves. The minimum F-wave latency of motor nerve was significantly prolonged. Among the lipid fractions, only high-density lipoprotein-cholesterol was significantly reduced by 14% of healthy participant′s value. Atherogenic lipid ratios were significantly higher in diabetic patients than corresponding healthy ratios. Conclusion: Metabolic lipid disturbances in terms of atherogenicity co-existwith neuropathy in type 2 diabetes mellitus, irrespective of duration of disease.

  9. Self-Reported Physical Activity Using the International Physical Activity Questionnaire (IPAQ) in Australian Adults with Type 2 Diabetes, with and Without Peripheral Neuropathy.

    Science.gov (United States)

    Nolan, Rebecca C; Raynor, Annette J; Berry, Narelle M; May, Esther J

    2016-12-01

    The aim of this study was to survey the level of self-reported physical activity in people with type 2 diabetes, with and without peripheral neuropathy. A sample of South Australian adults (n=481) 33 to 88 years of age who had type 2 diabetes, including 55 people with peripheral neuropathy, completed the International Physical Activity Questionnaire (IPAQ). Levels of self-reported physical activity were compared between those with and without peripheral neuropathy. People with type 2 diabetes and peripheral neuropathy (median [Mdn]=1433; interquartile range [IQR]=495 to 3390 metabolic equivalent minutes per week [MET-min/wk]) were less physically active than those without peripheral neuropathy (Mdn=2106; IQR=876 to 4380 MET-min/wk) (p=0.04). A total of 49% of people with type 2 diabetes and peripheral neuropathy met physical activity recommendations of 150 minutes of at least moderate activity per week, compared to 57% of people with type 2 diabetes alone. These findings demonstrate that people with type 2 diabetes and peripheral neuropathy reported being significantly less active than people with type 2 diabetes alone. People with type 2 diabetes and peripheral neuropathy need to be encouraged to perform higher levels of physical activity for biologic, physical and psychological benefits. Further studies using objective measures of physical activity are required to support these results. Copyright © 2016 Canadian Diabetes Association. Published by Elsevier Inc. All rights reserved.

  10. A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

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    Celia Zazo Seco

    2017-02-01

    Full Text Available A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G>T (p.Glu2*, in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals. In order to obtain independent evidence for the involvement of FITM2 in the human pathology, downregulation of the single Fitm ortholog, CG10671, in Drosophila melanogaster was pursued using RNA interference. Characteristics of the syndrome, including progressive locomotor impairment, hearing loss and disturbed sensory functions, were recapitulated in Drosophila, which supports the causative nature of the FITM2 mutation. Mutation-based genetic counseling can now be provided to the family and insight is obtained into the potential impact of genetic variation in FITM2.

  11. A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.

    Science.gov (United States)

    Zazo Seco, Celia; Castells-Nobau, Anna; Joo, Seol-Hee; Schraders, Margit; Foo, Jia Nee; van der Voet, Monique; Velan, S Sendhil; Nijhof, Bonnie; Oostrik, Jaap; de Vrieze, Erik; Katana, Radoslaw; Mansoor, Atika; Huynen, Martijn; Szklarczyk, Radek; Oti, Martin; Tranebjærg, Lisbeth; van Wijk, Erwin; Scheffer-de Gooyert, Jolanda M; Siddique, Saadat; Baets, Jonathan; de Jonghe, Peter; Kazmi, Syed Ali Raza; Sadananthan, Suresh Anand; van de Warrenburg, Bart P; Khor, Chiea Chuen; Göpfert, Martin C; Qamar, Raheel; Schenck, Annette; Kremer, Hannie; Siddiqi, Saima

    2017-02-01

    A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G>T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals. In order to obtain independent evidence for the involvement of FITM2 in the human pathology, downregulation of the single Fitm ortholog, CG10671, in Drosophila melanogaster was pursued using RNA interference. Characteristics of the syndrome, including progressive locomotor impairment, hearing loss and disturbed sensory functions, were recapitulated in Drosophila, which supports the causative nature of the FITM2 mutation. Mutation-based genetic counseling can now be provided to the family and insight is obtained into the potential impact of genetic variation in FITM2. © 2017. Published by The Company of Biologists Ltd.

  12. A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

    Science.gov (United States)

    Zazo Seco, Celia; Castells-Nobau, Anna; Joo, Seol-hee; Schraders, Margit; Foo, Jia Nee; van der Voet, Monique; Velan, S. Sendhil; Nijhof, Bonnie; Oostrik, Jaap; de Vrieze, Erik; Katana, Radoslaw; Mansoor, Atika; Huynen, Martijn; Szklarczyk, Radek; Oti, Martin; Tranebjærg, Lisbeth; van Wijk, Erwin; Scheffer-de Gooyert, Jolanda M.; Siddique, Saadat; Baets, Jonathan; de Jonghe, Peter; Sadananthan, Suresh Anand; van de Warrenburg, Bart P.; Khor, Chiea Chuen; Göpfert, Martin C.; Qamar, Raheel; Schenck, Annette

    2017-01-01

    ABSTRACT A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G>T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals. In order to obtain independent evidence for the involvement of FITM2 in the human pathology, downregulation of the single Fitm ortholog, CG10671, in Drosophila melanogaster was pursued using RNA interference. Characteristics of the syndrome, including progressive locomotor impairment, hearing loss and disturbed sensory functions, were recapitulated in Drosophila, which supports the causative nature of the FITM2 mutation. Mutation-based genetic counseling can now be provided to the family and insight is obtained into the potential impact of genetic variation in FITM2. PMID:28067622

  13. Relationship between corneal sub-basal nerve plexus morphology, function and electrochemical skin conducance in type 1 diabetes mellitus patients with and without diabetic neuropathy

    OpenAIRE

    Derkač, Irmantė; Asselineau, Kirwan Iain Frederic; Janulevičienė, Ingrida; Veličkienė, Džilda

    2016-01-01

    Diabetic neuropathy can be defined as the presence of symptoms and/or signs of peripheral nerve dysfunction in people with diabetes after the exclusion of other causes, she said. Diabetes mellitus (DM) is the most common cause of neuropathy worldwide, Dr. Derkac added. The prevalence of diabetic neuropathy (DN) in type 1 DM has been postulated to be over 50% by 25 years of diagnosis. About 25 to 35% of neuropathies are associated with pain, and having painful DN has a significant and negative...

  14. Coexistence of two chronic neuropathies in a young child: Charcot-Marie-Tooth disease type 1A and chronic inflammatory demyelinating polyneuropathy.

    Science.gov (United States)

    Marques, Wilson; Funayama, Carolina A R; Secchin, Juliana B; Lourenço, Charles M; Gouvêa, Silmara P; Marques, Vanessa D; Bastos, Patricia G; Barreira, Amilton A

    2010-10-01

    We report an 18-month-old Charcot-Marie-Tooth type 1A (CMT1A) patient who developed a rapid-onset neuropathy, with proximal and distal weakness, and non-uniform nerve conduction studies. The neuropathy responded well to immunomodulation, confirming the coexistence of an inherited and an inflammatory neuropathy. Unexpected clinical and/or electrophysiological manifestations in CMT1A patients should alert clinicians to concomitant inflammatory neuropathy. In addition, this association raises reflections about disease mechanism in CMT1A.

  15. Recurrent Episodes of Stroke-Like Symptoms in a Patient with Charcot-Marie-Tooth Neuropathy X Type 1

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    Ning Wu

    2015-12-01

    Full Text Available Charcot-Marie-Tooth disease (CMT, also known as hereditary motor sensory neuropathy, is a heterogeneous group of disorders best known for causing inherited forms of peripheral neuropathy. The X-linked form, CMTX1, is caused by mutations in the gap junction protein beta 1 (GJB1 gene, expressed both by peripheral Schwann cells and central oligodendrocytes. Central manifestations are known but are rare, and there are few case reports of leukoencephalopathy with transient or persistent neurological deficits in patients with this CMT subtype. Here, we report the case of a man with multiple male and female family members affected by neuropathy who carries a pathologic mutation in GJB1. He has experienced three transient episodes with variable neurological deficits over the course of 7 years with corresponding changes on magnetic resonance imaging (MRI. This case illustrates CMT1X as a rare cause of transient neurological deficit and demonstrates the evolution of associated reversible abnormalities on MRI over time. To the best of our knowledge, this report provides the longest period of serial imaging in a single patient with this condition in the English language literature.

  16. Predictors of cardiovascular autonomic neuropathy in patients with type 1 diabetes

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    LUCIANNE RIGHETI MONTEIRO TANNUS

    2014-11-01

    Full Text Available Cardiovascular disease (CVD is the leading cause of mortality in patients with type 1 diabetes (T1D. The cardiovascular autonomic neuropathy (CAN, although considered as an independent risk factor for CVD, remains underdiagnosed. The aim of this paper was to determine the prevalence, predictors of CAN in patients with T1D and its association with other chronic complications of diabetes. Patients with T1D underwent a clinical-epidemiological survey, had blood and urinary samples collected, performed ophthalmoscopic and clinical neurological examination and cardiovascular reflex tests. One hundred and fifty one patients with T1D, 53.6 % female, 45.7% caucasian, mean age of 33.4 ± 13 years, diabetes duration of 16.3 ± 9.5 years, glycated hemoglobin levels of 9.1 ± 2% were evaluated. The prevalence of CAN in the studied population was 30.5%. CAN was associated with age (p=0.01, diabetes duration (p=0.036, hypertension (p=0.001, resting heart rate (p=0.000, HbA1c (p=0.048, urea (p=0.000, creatinine (p=0.008, glomerular filtration rate (p=0.000, urinary albumin concentration (p=0.000, LDL (p=0.048, free T4 (p=0.023, hemoglobin (p=0.01 and presence of retinopathy (p=0.000, nephropathy (p=0.000 and diabetic neuropathy (p=0.000, the following symptoms syncope (p=0.000, post prandial nausea (p=0.042, early satiety (p=0.031, sexual dysfunction (p=0.049 and gustatory sweating (p=0.018. In logistic regression model, it was observed that only age, resting heart rate, diabetic nephropathy and retinopathy were independent associated with CAN. In conclusion, CAN is a common chronic complication of T1D affecting about 30% of the studied population and is associated with the presence of other chronic complications. Indicators of CAN included age, diabetes duration, hypertension, resting heart rate, diabetic nephropathy and retinopathy and symptoms suggestive of autonomic neuropathy. This study confirms the importance of systematic and early screening for CAN.

  17. A Point Mutation in a lincRNA Upstream of GDNF Is Associated to a Canine Insensitivity to Pain: A Spontaneous Model for Human Sensory Neuropathies.

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    Jocelyn Plassais

    2016-12-01

    Full Text Available Human Hereditary Sensory Autonomic Neuropathies (HSANs are characterized by insensitivity to pain, sometimes combined with self-mutilation. Strikingly, several sporting dog breeds are particularly affected by such neuropathies. Clinical signs appear in young puppies and consist of acral analgesia, with or without sudden intense licking, biting and severe self-mutilation of the feet, whereas proprioception, motor abilities and spinal reflexes remain intact. Through a Genome Wide Association Study (GWAS with 24 affected and 30 unaffected sporting dogs using the Canine HD 170K SNP array (Illumina, we identified a 1.8 Mb homozygous locus on canine chromosome 4 (adj. p-val = 2.5x10-6. Targeted high-throughput sequencing of this locus in 4 affected and 4 unaffected dogs identified 478 variants. Only one variant perfectly segregated with the expected recessive inheritance in 300 sporting dogs of known clinical status, while it was never present in 900 unaffected dogs from 130 other breeds. This variant, located 90 kb upstream of the GDNF gene, a highly relevant neurotrophic factor candidate gene, lies in a long intergenic non-coding RNAs (lincRNA, GDNF-AS. Using human comparative genomic analysis, we observed that the canine variant maps onto an enhancer element. Quantitative RT-PCR of dorsal root ganglia RNAs of affected dogs showed a significant decrease of both GDNF mRNA and GDNF-AS expression levels (respectively 60% and 80%, as compared to unaffected dogs. We thus performed gel shift assays (EMSA that reveal that the canine variant significantly alters the binding of regulatory elements. Altogether, these results allowed the identification in dogs of GDNF as a relevant candidate for human HSAN and insensitivity to pain, but also shed light on the regulation of GDNF transcription. Finally, such results allow proposing these sporting dog breeds as natural models for clinical trials with a double benefit for human and veterinary medicine.

  18. Cardiovascular Autonomic Neuropathy, Sexual Dysfunction, and Urinary Incontinence in Women With Type 1 Diabetes

    Science.gov (United States)

    Sarma, Aruna V.; Patel, Darshan P.; Braffett, Barbara H.; Cleary, Patricia A.; Feldman, Eva; Herman, William H.; Martin, Catherine L.; Jacobson, Alan M.; Wessells, Hunter; Pop-Busui, Rodica

    2016-01-01

    OBJECTIVE This study evaluated associations among cardiovascular autonomic neuropathy (CAN), female sexual dysfunction (FSD), and urinary incontinence (UI) in women with type I diabetes mellitus (T1DM). RESEARCH DESIGN AND METHODS We studied 580 women with T1DM in the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Study (DCCT/EDIC). CAN was defined as: 1) R-R variation 2) R-R variation of 15–19.9 plus Valsalva ratio ≤1.5 or a supine-to-standing drop of 10 mmHg in diastolic blood pressure. A Sandvik Severity Index of 3–12 defined UI, and a Female Sexual Function Index (FSFI-R) score ≥22.75 defined FSD. Multivariable models estimated associations among CAN, FSD, and UI. RESULTS At EDIC year 17, FSD was observed in 41% of women and UI in 30%. No statistically significant associations were observed between measures of CAN at DCCT closeout and subsequent report of FSD or UI. At EDIC year 16/17, there was a 53% increased odds of having UI with a Valsalva ratio ≤1.5. At both EDIC year 13/14 and EDIC year 16/17, a 5-unit increase in R-R variation was associated with a 1.11 greater odds of having FSD. CONCLUSIONS In women with T1DM in the DCCT/EDIC, we found significant increased odds of FSD and UI with specific measures of CAN. In long-standing T1DM, CAN may predict development of FSD and may be a useful surrogate for generalized diabetic autonomic neuropathy. PMID:27352953

  19. Cardiovascular Autonomic Neuropathy, Sexual Dysfunction, and Urinary Incontinence in Women With Type 1 Diabetes.

    Science.gov (United States)

    Hotaling, James M; Sarma, Aruna V; Patel, Darshan P; Braffett, Barbara H; Cleary, Patricia A; Feldman, Eva; Herman, William H; Martin, Catherine L; Jacobson, Alan M; Wessells, Hunter; Pop-Busui, Rodica

    2016-09-01

    This study evaluated associations among cardiovascular autonomic neuropathy (CAN), female sexual dysfunction (FSD), and urinary incontinence (UI) in women with type I diabetes mellitus (T1DM). We studied 580 women with T1DM in the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Study (DCCT/EDIC). CAN was defined as: 1) R-R variation 2) R-R variation of 15-19.9 plus Valsalva ratio ≤1.5 or a supine-to-standing drop of 10 mmHg in diastolic blood pressure. A Sandvik Severity Index of 3-12 defined UI, and a Female Sexual Function Index (FSFI-R) score ≥22.75 defined FSD. Multivariable models estimated associations among CAN, FSD, and UI. At EDIC year 17, FSD was observed in 41% of women and UI in 30%. No statistically significant associations were observed between measures of CAN at DCCT closeout and subsequent report of FSD or UI. At EDIC year 16/17, there was a 53% increased odds of having UI with a Valsalva ratio ≤1.5. At both EDIC year 13/14 and EDIC year 16/17, a 5-unit increase in R-R variation was associated with a 1.11 greater odds of having FSD. In women with T1DM in the DCCT/EDIC, we found significant increased odds of FSD and UI with specific measures of CAN. In long-standing T1DM, CAN may predict development of FSD and may be a useful surrogate for generalized diabetic autonomic neuropathy. © 2016 by the American Diabetes Association.

  20. Cardiovascular autonomic neuropathy contributes to sleep apnea in young and lean type 1 diabetes mellitus patients.

    Science.gov (United States)

    Janovsky, Carolina Castro Porto Silva; Rolim, Luiz Clemente de Souza Pereira; de Sá, João Roberto; Poyares, Dalva; Tufik, Sergio; Silva, Ademir Baptista; Dib, Sergio Atala

    2014-01-01

    Knowledge about association between sleep apnea and cardiovascular autonomic neuropathy (CAN) in type 1 diabetes mellitus (T1DM) might give some insight into the pathogenesis of this condition in these patients. In obese patients, excessive central adiposity, including a large neck circumference, can contribute to obstructive sleep apnea (OSA). Its presence in non-obese patients, however, indicates that it could be correlated with autonomic neuropathy. The aim of this study was to compare the prevalence of OSA in young and lean T1DM patients with and without CAN. We studied 20 adult, non-obese, T1DM patients who were divided into two groups according to the results of the cardiovascular autonomic reflex tests (CARTs). These two groups (9 with CAN and 11 without CAN) were compared to a control group of 22 healthy individuals, who were matched by age and BMI. A polysomnography was performed and sleep was analyzed. The CAN+ group had a significantly higher prevalence of sleep apnea compared to the other groups (67% CAN+; 23% CAN-; 4.5% controls: CAN+ vs. Control; p = 0.006 and CAN+ vs. CAN-; p = 0.02). The CAN- group had higher sleep efficiency compared to the CAN+ group, demonstrating impaired sleep architecture in diabetics with this chronic complication. In conclusion, OSA may be related to the presence of CAN in young and lean T1DM patients. It could contribute to worse the prognosis and reducing the quality of life of these patients without specific treatment of these conditions.

  1. CARDIAC AUTONOMIC NEUROPATHY AND MICROALBUMINURIA IN TYPE 2 DIABETES MELLITUS- A CROSS-SECTIONAL ANALYSIS

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    Suresh Padmini

    2017-02-01

    Full Text Available BACKGROUND Autonomous neuropathy is one of the least focused complications of type 2 diabetes mellitus in clinical practice. CAN is a significant cause of morbidity and mortality associated with a high risk of cardiac arrhythmias and sudden death. Higher urinary albumin excretion has been suggested as a predicting diabetic nephropathy. This cross-sectional study sought to determine relationship of CAN with early renal decline in type 2 diabetes mellitus. MATERIALS AND METHODS Over a period of two years, patients with type 2 diabetes mellitus after careful exclusion of other risk factors for proteinuria, 199 patients were included in this cross-sectional survey. CAN was measured by portable ANSiscope and 24-hour urine microalbumin level was estimated. Correlation was sought between the two variable. RESULTS Out of the 199 patients chosen for the study, 127 were male. The mean age of diabetes was 6.4±3.9 years. 57.8% had late or advanced CAN and there was a significant linear correlation with 24-hour urine microalbumin levels. CONCLUSION Measurement of CAN is an effective way to assess the level of cardiac sympathetic dysfunction due to disease in patients with type 2 diabetes mellitus of more than 5 years duration. Urine microalbumin levels correlate with the degree of CAN. There is a strong need to conduct more studies about CAN to fully understand its pathology and develop treatment strategies to reduce cardiac mortality.

  2. Vitamin B12 deficiency is associated with cardiovascular autonomic neuropathy in patients with type 2 diabetes.

    Science.gov (United States)

    Hansen, Christian S; Jensen, Jan S; Ridderstråle, Martin; Vistisen, Dorte; Jørgensen, Marit E; Fleischer, Jesper

    2017-01-01

    Vitamin B12 deficiency could be associated with cardiovascular autonomic neuropathy (CAN) in diabetes patients. We aim to investigate the association between serum levels of vitamin B12 and CAN in type 2 diabetes patients. 469 ambulatory type 2 diabetes patients (mean diabetes duration 10.0years (IQR 5.0;17.0), mean age 59.0years (SD 11.6), 63% men, mean B12 289.0pmol/l (IQR 217;390)) were screened for CAN using three cardiovascular reflex tests, five minute resting heart rate (5min RHR) and heart rate variability indices. Serum levels of vitamin B12 were significantly lower in patients treated with metformin and/or proton pump inhibitors (PPIs) compared with patients not treated (pvitamin B12 was associated with an odds ratio of the CAN diagnosis of 0.94 (95% CI 0.88; 1.00, p=0.034), an increase in E/I-ratio of 0.21% (95% CI 0.01; 0.43, p=0.038), and a decrease in 5min RHR of 0.25 beats per minute (95% CI -0.47; -0.03, p=0.025). Vitamin B12 may be inversely associated with CAN in patients with type 2 diabetes. Confirmatory studies investigating a causal role of vitamin B12 for the development of diabetic CAN are warranted. Copyright © 2017 Elsevier Inc. All rights reserved.

  3. Influence of Visceral Adiposity on Cardiovascular Autonomic Neuropathy in Patients with Type 2 Diabetes Mellitus

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    Eun-Hee Jang

    2012-08-01

    Full Text Available BackgroundThe aim of this study was to investigate the influences of visceral adiposity on cardiovascular autonomic neuropathy (CAN in patients with type 2 diabetes mellitus.MethodsTwo hundred eleven patients with type 2 diabetes participated in this study. Anthropometric and metabolic parameters were measured, and the visceral fat area was assessed using computed tomography. CAN was diagnosed using a cardiovascular reflex test. We analyzed the correlation between the visceral fat area and each parameter in this test.ResultsThe mean age, body mass index (BMI, and duration of diabetes of the study population were 60±14 years (mean±standard deviation, 25.1±4.2 kg/m2, and 12.3±8.9 years, respectively. The visceral fat area showed positive correlations with age, BMI, waist circumference, and subcutaneous fat area. There was no statistically significant difference in the cardiovascular reflex test outcome between genders. Univariate linear regression analysis showed that an increased visceral fat area diminished good heart rate response to a Valsalva maneuver (R2=4.9%, P=0.013 in an unadjusted model, but only in women. This statistical association was preserved after adjusting for age and BMI (R2=9.8%, P=0.0072.ConclusionThe results of this study suggest that visceral adiposity contributes to an autonomic imbalance to some degree, as demonstrated by the impaired cardiovascular reflex test among women with type 2 diabetes.

  4. High and low vitamin D level is associated with cardiovascular autonomic neuropathy in people with Type 1 and Type 2 diabetes

    DEFF Research Database (Denmark)

    Hansen, C. S.; Fleischer, J.; Vistisen, D.

    2017-01-01

    rate and heart rate variability indices. Results: We found an inverse U-shaped association between serum vitamin D level and E/I ratio, 30/15 ratio and three heart rate variability indices (P cardiovascular autonomic neuropathy diagnosis (P ..., 58% men] underwent vitamin D (D2 and D3) assessment, and were screened for cardiovascular autonomic neuropathy using three cardiovascular reflex tests [heart rate response to deep breathing (E/I ratio), to standing (30/15 ratio) and to the Valsalva manoeuvre] and assessment of 5-min resting heart......Aim: To investigate the possible association between vitamin D deficiency and cardiovascular autonomic neuropathy in people with diabetes. Methods: A total of 113 people with Type 1 or Type 2 diabetes [mean (interquartile range) diabetes duration 22.0 (12–31) years, mean (sd) age 56.2 (13.0) years...

  5. The association between glycemic variability and diabetic cardiovascular autonomic neuropathy in patients with type 2 diabetes.

    Science.gov (United States)

    Jun, Ji Eun; Jin, Sang-Man; Baek, Jongha; Oh, Sewon; Hur, Kyu Yeon; Lee, Myung-Shik; Lee, Moon-Kyu; Kim, Jae Hyeon

    2015-06-04

    It is presently unclear whether glycemic variability is associated with diabetic cardiovascular autonomic neuropathy (CAN). The aim of this study was to examine whether short- and/or long-term glycemic variability (GV) contribute to CAN. A total of 110 patients with type 2 diabetes who underwent three-day continuous glucose monitoring (CGM) completed five standardized autonomic neuropathy tests. Short-term GV was measured by the standard deviation (SD), coefficient of variation (CV) of glucose, and the mean amplitude of glycemic excursions (MAGE) in CGM. HbA1c variability was calculated from the intrapersonal SD, adjusted SD, and CV of serial HbA1c over 2-year period. CAN was defined as the presence of at least two abnormal parasympathetic function tests. The severity of CAN was evaluated by total scores of five autonomic function tests. In univariate analysis, not only SD and CV in CGM but also all parameters of HbA1c variability were significantly higher in the patients with CAN (n = 47, 42.7 %) than in those without CAN. In multivariate analysis, CV (Odds ratio [OR] 1.07, 95 % confidence interval [CI] 1.01-1.13; p = 0.033), but neither SD nor MAGE in CGM, independently correlated with the presence of CAN. All parameters of HbA1c variability, such as SD of HbA1c (OR 12.10 [95 % CI 2.29-63.94], p = 0.003), adjusted SD of HbA1c (OR 17.02 [95 % CI 2.66-108.86], p = 0.003), and log CV of HbA1c (OR 24.00 [95 % CI 3.09-186.48], p = 0.002), were significantly associated with the presence of CAN. The patients with higher HbA1c variability had an increased risk of advanced CAN. CV in CGM and all parameters of HbA1c variability were independently associated with the presence of CAN in patients with inadequately controlled type 2 diabetes requiring CGM.

  6. Chronic obstructive pulmonary disease and peripheral neuropathy

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    Gupta Prem

    2006-01-01

    Full Text Available Chronic obstructive pulmonary disease (COPD is the fourth leading cause of death world-wide and a further increase in the prevalence as well as mortality of the disease is predicted for coming decades. There is now an increased appreciation for the need to build awareness regarding COPD and to help the thousands of people who suffer from this disease and die prematurely from COPD or its associated complication(s. Peripheral neuropathy in COPD has received scanty attention despite the fact that very often clinicians come across COPD patients having clinical features suggestive of peripheral neuropathy. Electrophysiological tests like nerve conduction studies are required to distinguish between axonal and demyelinating type of disorder that cannot be analyzed by clinical examination alone. However, various studies addressing peripheral neuropathy in COPD carried out so far have included patients with COPD having markedly varying baseline characteristics like severe hypoxemia, elderly patients, those with long duration of illness, etc. that are not uniform across the studies and make it difficult to interpret the results to a consistent conclusion. Almost one-third of COPD patients have clinical evidence of peripheral neuropathy and two-thirds have electrophysiological abnormalities. Some patients with no clinical indication of peripheral neuropathy do have electrophysiological deficit suggestive of peripheral neuropathy. The more frequent presentation consists of a polyneuropathy that is subclinical or with predominantly sensory signs, and the neurophysiological and pathological features of predominantly axonal neuropathy. The presumed etiopathogenic factors are multiple: chronic hypoxia, tobacco smoke, alcoholism, malnutrition and adverse effects of certain drugs.

  7. A community-based epidemiological study of peripheral neuropathies in Assiut, Egypt.

    Science.gov (United States)

    Kandil, Mahmoud R; Darwish, Esam S; Khedr, Eman M; Sabry, Mahmoud M; Abdulah, Mohamed A

    2012-12-01

    There is very little published information about the prevalence, patterns, and predictors of peripheral neuropathies. The current study is a community-based survey was conducted in the Assiut Governorate to estimate their prevalence and clinical profile. A door-to-door study was carried out on 42,223 persons from rural and urban communities in the Assiut Governorate, Egypt. There were 13,288 (31.5%) subjects from the urban and 28,935 (68·5%) from the rural area. All subjects filled in a questionnaire designed specifically for diagnosis of peripheral neuropathy. Positive cases were then given a complete medical and neurological examination, routine laboratory tests, neurophysiology, and neuroimaging (magnetic resonance). The crude prevalence rate (CPR) of peripheral neuropathy was 3181/100,000 inhabitants. There was a significantly higher prevalence in the rural compared with the urban population (3795 versus 1844/100,000) and in females than males (4473 versus 1943/100,000; Psyndrome (1686/100,000). Diabetic neuropathy was the most common non-compressive neuropathy with a CPR of 649/100,000. Type II diabetes was recorded in 241 patients with a CPR of 571/100,000. Compressive radiculopathy had a crude prevalence of 358/100,000; traumatic and iatrogenic radiculopathy had a prevalence rate of 149/100,000. Less common conditions were: uremic neuropathy (21/100,000) hepatic neuropathy (14/100,000), Bell's palsy (28/100,000), Guillian-Barre' syndrome (12/100,000), chronic inflammatory demyelinating polyneuropathy (12/100,000), hereditary sensory motor neuropathy (12/100,000), and idiopathic neuropathy (92/100,000). The overall prevalence of peripheral neuropathies was high in comparison to other studies. Entrapment neuropathy, diabetic neuropathy, and spondylotic radiculopathy were the most common. Overall, the prevalence of peripheral neuropathy was higher in the rural than in the urban population.

  8. Diabetic Cardiovascular Autonomic Neuropathy Predicts Recurrent Cardiovascular Diseases in Patients with Type 2 Diabetes.

    Science.gov (United States)

    Cha, Seon-Ah; Yun, Jae-Seung; Lim, Tae-Seok; Min, Kyoungil; Song, Ki-Ho; Yoo, Ki-Dong; Park, Yong-Moon; Ahn, Yu-Bae; Ko, Seung-Hyun

    2016-01-01

    Cardiovascular autonomic neuropathy (CAN) is a risk factor for cardiovascular disease (CVD) and mortality in patients with type 2 diabetes. This study evaluated the relationship between CAN and recurrent CVD in type 2 diabetes. A total of 206 patients with type 2 diabetes who had a history of CVD within 3 years of enrollment were consecutively recruited from January 2001 to December 2009 and followed-up until December 2015. Cardiovascular autonomic function tests were performed using the following heart rate variability parameters: expiration-to-inspiration ratio, response to Valsalva maneuver and standing. We estimated the recurrence of CVD events during the follow-up period. A total of 159 (77.2%) of the 206 patients enrolled completed the follow up, and 78 (49.1%) patients had recurrent episodes of CVD, with an incidence rate of 75.6 per 1,000 patient-years. The mean age and diabetes duration were 62.5 ± 8.7 and 9.2 ± 6.9 years, respectively. Patients who developed recurrent CVD also exhibited hypertension (P = 0.004), diabetic nephropathy (P = 0.012), higher mean systolic blood pressure (P = 0.006), urinary albumin excretion (P = 0.015), and mean triglyceride level (P = 0.035) than did patients without recurrent CVD. Multivariable Cox hazard regression analysis revealed that definite CAN was significantly associated with an increased risk of recurrent CVD (hazard ratio [HR] 3.03; 95% confidence interval [CI] 1.39-6.60; P = 0.005). Definite CAN was an independent predictor for recurrent CVD in patients with type 2 diabetes who had a known prior CVD event.

  9. Impaired expression of ciliary neurotrophic factor in Charcot-Marie-Tooth type 1A neuropathy.

    Science.gov (United States)

    Nobbio, Lucilla; Fiorese, Fulvia; Vigo, Tiziana; Cilli, Michele; Gherardi, Gianfranco; Grandis, Marina; Melcangi, Roberto Cosimo; Mancardi, Gianluigi; Abbruzzese, Michele; Schenone, Angelo

    2009-05-01

    We investigated the contribution of Schwann cell-derived ciliary neurotrophic factor (CNTF) to the pathogenesis of Charcot-Marie-Tooth disease type 1A (CMT1A) and addressed the question as to whether it plays a role in the development of axonal damage observed in the disease, with aging. Ciliary neurotrophic factor was underexpressed in experimental CMT1A but not in other models of hereditary neuropathies. Sciatic nerve crush experiments and dosage of CNTF at different time points showed that expression of this trophic factor remained significantly lower in CMT1A rats than in normal controls; moreover, in uninjured CMT1A sciatic nerves CNTF levels further decreased with ageing, thus paralleling the molecular signs of axonal impairment, that is increased expression of non-phosphorylated neurofilaments and amyloid precursor protein. Administration of CNTF to dorsal root ganglia cultures reduced dephosphorylation of neurofilaments in CMT1A cultures, without improving demyelination. Taken together, these results provide further evidence that the production of CNTF by Schwann cells is markedly reduced in CMT1A. Moreover, the observations suggest that trophic support to the axon is impaired in CMT1A and that further studies on the therapeutic use of trophic factors or their derivatives in experimental and human CMT1A are warranted.

  10. Cardiac Autonomic Neuropathy in Patients with Type 2 Diabetes Mellitus at High Risk for Foot Ulcers.

    Science.gov (United States)

    Menon, Anil S; Dixit, Abhinav; Garg, M K; Girish, R

    2017-01-01

    To study the prevalence of cardiac autonomic neuropathy (CAN) in patients with Type 2 diabetes mellitus at high risk for foot ulcers. We screened patients attending diabetic clinic for identifying patients at high risk for foot ulcers. Those with foot risk category 1, 2 and 3 as per criteria of Foot Care Interest Group were subjected to battery of cardiovascular autonomic reflex tests. Those with one abnormal test were termed as probable CAN and those with two abnormal tests as definite CAN. Those with postural fall in blood pressure with one other abnormal test were termed to have advanced CAN. A total of 74 patients were recruited in the study. The prevalence of abnormal cardiovascular autonomic reflex test was sustained hand grip 81%, E/I ratio 66.2%, 30:15 ratio 28.3% and orthostatic hypotension 13.5%. The prevalence of possible CAN was 31.0% (23/74) and definite CAN was 66.2% (49/74). Ten patients had advanced CAN. There was no observable difference in presence of probable or definite CAN in three risk category for foot ulcers. We found a high prevalence of CAN in subgroup of diabetic patients at increased risk for foot ulcer.

  11. Relationship between cardiovascular autonomic neuropathy and coronary artery calcification in patients with type 2 diabetes

    International Nuclear Information System (INIS)

    Moon, Seong-Su; Choi, Yeon-Kyung; Seo, Hyun-Ae

    2010-01-01

    To test the hypothesis that cardiovascular autonomic neuropathy (CAN) in Type 2 diabetes is a risk factor of coronary artery calcification (CAC), in this cross-sectional study, 118 patients (60 males, 58 females) with type 2 diabetes mellitus were randomly selected from the diabetes clinic of Kyungpook National University Hospital, Daegu, Korea, between January, 2008 and September, 2008. The subjects, whose mean age was 56.9±1.1 years, were tested for CAN by Ewing's method which employs five non-invasive tests of autonomic function. The coronary calcium score (CCS) was determined by Multi Detector-row Computed Tomography (MDCT). Statistical analysis was performed by using SPSS 13.0 (SPSS, Inc., Chicago, Illinois). CAN was found in 31/118 (26.3%) patients. Compared to the patients without CAN, the patients with CAN were significantly older and had significantly higher triglyceride levels, blood pressure, pulse pressure, fasting c-peptide levels, CAN scores, and log-transformed coronary calcium scores [ln(CCS+1)]. The CAN scores correlated positively with ln(CCS+1) values (r=0.214; P=0.028). Multiple regression analysis using ln(CCS+1) as a dependent variable showed that CAN score (β coefficient 0.623, 95% confidence interval (CI) 0.059-1.188, P=0.031) associated independently with ln(CCS+1). In conclusion, CAN was associated independently with CAC, which suggests that CAN is a risk factor of coronary atherosclerosis in patients with type 2 diabetes. This may help to explain the excess cardiovascular mortality seen in diabetic patients with CAN. (author)

  12. Erythropoietin response to anemia and its association with autonomic neuropathy in type 2 diabetic patients without advanced renal failure.

    Science.gov (United States)

    Kim, Mee Kyoung; Baek, Ki Hyun; Lim, Dong Jun; Kim, Young Kyu; Kang, Moo-Il; Lee, Kwang-Woo; Song, Ki-Ho

    2010-01-01

    We aim to investigate erythropoietin (EPO) response to anemia and its association with autonomic neuropathy in type 2 diabetic patients without advanced renal failure. A cross-sectional study was conducted on 211 type 2 diabetes mellitus patients without advanced renal failure [estimated glomerular filtration rate (eGFR) >40 ml/min/1.73 m(2)]. The response of EPO to anemia of type 2 diabetic patients without advanced renal failure was compared with those of nondiabetic control subjects. Autonomic nerve function was assessed using three cardiovascular tests (deep breathing, the Valsalva maneuver, and lying-to-standing). The results of each test were scored as 0 if normal, 1 if borderline, and 2 if abnormal. Autonomic neuropathy was diagnosed when a total score of the tests was 2 or more. Fifty-eight patients were anemic; compared with nonanemic patients, they had a longer duration of diabetes (16.69+/-10.11 vs. 10.67+/-8.41 years, Pdiabetic patients and nondiabetic control subjects (-0.0085 vs. -0.255, P=.008). Multiple linear regression analysis revealed that cardiovascular autonomic neuropathy score was independently related to Hb (Pdiabetic patients without advanced renal failure.

  13. Acute nutritional axonal neuropathy.

    Science.gov (United States)

    Hamel, Johanna; Logigian, Eric L

    2018-01-01

    This study describes clinical, laboratory, and electrodiagnostic features of a severe acute axonal polyneuropathy common to patients with acute nutritional deficiency in the setting of alcoholism, bariatric surgery (BS), or anorexia. Retrospective analysis of clinical, electrodiagnostic, and laboratory data of patients with acute axonal neuropathy. Thirteen patients were identified with a severe, painful, sensory or sensorimotor axonal polyneuropathy that developed over 2-12 weeks with sensory ataxia, areflexia, variable muscle weakness, poor nutritional status, and weight loss, often with prolonged vomiting and normal cerebrospinal fluid protein. Vitamin B6 was low in half and thiamine was low in all patients when obtained before supplementation. Patients improved with weight gain and vitamin supplementation, with motor greater than sensory recovery. We suggest that acute or subacute axonal neuropathy in patients with weight loss or vomiting associated with alcohol abuse, BS, or dietary deficiency is one syndrome, caused by micronutrient deficiencies. Muscle Nerve 57: 33-39, 2018. © 2017 Wiley Periodicals, Inc.

  14. Peripheral Neuropathy

    Science.gov (United States)

    ... arsenic can cause peripheral neuropathy. In addition, certain insecticides and solvents have also been known to cause ... ranges from clinical studies of the genetics and natural history of hereditary neuropathies to basic science investigations ...

  15. Diabetic Neuropathy

    Science.gov (United States)

    ... of diabetic neuropathy may become severe enough to cause depression in some patients. x Prognosis The prognosis for ... of diabetic neuropathy may become severe enough to cause depression in some patients. View Full Prognosis Clinical Trials ...

  16. Auditory Neuropathy

    Science.gov (United States)

    ... with auditory neuropathy have greater impairment in speech perception than hearing health experts would predict based upon their degree of hearing loss on a hearing test. For example, a person with auditory neuropathy may be able to hear ...

  17. Comparison the effects of two types of therapeutic exercises Frenkele vs. Swiss ball on the clinical balance measures in patients with type II diabetic neuropathy.

    Science.gov (United States)

    Rojhani-Shirazi, Zahra; Barzintaj, Fatemeh; Salimifard, Mohamad Reza

    2017-11-01

    The number of diabetic patients is increasing in the world. Peripheral neuropathy is the most important problem of diabetes. Neuropathy eventually leads to balance impairment which is the main cause of falling down in these patients However, not sufficient evidences available to compare different protocols for improving balance in diabetic patients. This study aimed to compare the effects of two therapeutic exercises on clinical balance measures in patients with type II diabetic peripheral neuropathy. The study was performed on 60 patients with diabetes categorized randomly into three groups: an intervention group (N=20) that received ball training exercise, another intervention group (N=20) that received Frenkel exercise and a control group (N=20) that received no interventions. Exercise training session was performed for 3 weeks. Then, clinical balance measures were computed in the three groups. Paired t-test and one-way ANOVA were used to analyze the collected data. Both types of therapeutic exercise programs significantly improved balance in single leg stance, star excursion test, and Berg balance scale test (P˂0.05) compared to the control group. Besides, this was more significant in the ball training group (P˂0.05). To improve balance in diabetic neuropathy, Swiss ball exercise is preferred compared to Frenkel training. Copyright © 2016. Published by Elsevier Ltd.

  18. Hansen Neuropathy: Still a Possible Diagnosis in the Investigation of a Peripheral Neuropathy.

    Science.gov (United States)

    Veiga, Andreia; Costa, Alexandre; Taipa, Ricardo; Guimarães, António; Pires, Manuel Melo

    2015-01-01

    Leprosy is still one of the most frequent causes of peripheral neuropathy. Although regarded as eradicated in Portugal, is still documented in neuropathological study of patients with clinical peripheral neuropathy without proper diagnosis. Review of the cases of Hansen disease neuropathy diagnosed in Neuropathology Unit of Centro Hospitalar do Porto between 1978 and 2013, atending to gender, age, clinical manifestations and neuropathological findings. Twenty one patients were identified with neuropathological diagnosis of Hansenâs disease neuropathy, predominantly male. The mean age at diagnosis was 52 years, and sensory symptoms predominate as neurological manifestation of disease. Interval between symptoms and diagnosis was 1-38 years. In most nerve samples tuberculoid type of disease was identified. Bacilli were detected in skin and nerve in 44% of cases. Mononeuritis is the most common presentation of leprosy but other clinical manifestations are possible, including skin lesions. Infection with M. leprae injures myelinated and unmyelinated fibres, with replacement of nerve tissue by collagen fibrosis. The diagnosis of leprosy is only achieved by neuropathological study of skin lesions and / or peripheral nerve, supported by the identification of the bacillus. Hansen disease remains a public health problem in tropical areas and, although rare, still described in Western countries reason why should still be considered as a diagnostic possibility in the investigation of peripheral neuropathy.

  19. Cardiac Autonomic Neuropathy May Play a Role in Pathogenesis of Atherosclerosis in Type 1 Diabetes Mellitus

    Czech Academy of Sciences Publication Activity Database

    Malá, Š.; Potočková, V.; Hoskovcová, L.; Pithová, P.; Brabec, Marek; Kulhánková, J.; Keil, R.; Riedlbauchová, L.; Brož, J.

    2017-01-01

    Roč. 134, December (2017), s. 139-144 ISSN 0168-8227 Institutional support: RVO:67985807 Keywords : autonomic neuropathy * diabetes mellitus * intima media thickness * atherosclerosis * heart rate variability Subject RIV: BB - Applied Statistics, Operational Research OBOR OECD: Statistics and probability Impact factor: 3.639, year: 2016

  20. Prevalence and risk factors for peripheral neuropathy among type 2 diabetes mellitus patients at a tertiary care hospital in coastal Karnataka

    Directory of Open Access Journals (Sweden)

    Sonalika Gogia

    2017-01-01

    Full Text Available Context and Objective: In view of the growing burden of type 2 diabetes mellitus (T2DM globally and associated microvascular and macrovascular complications, the study was done to assess the prevalence and risk factors for diabetic neuropathy among T2DM patients attending a tertiary care hospital. Subjects and Methods: T2DM patients' ≥30 years of both gender, presenting to the Medicine Department at a tertiary care hospital were included in the study. Diabetic Neuropathy Symptom (DNS questionnaire to assess symptoms and Diabetic Neuropathy Examination (DNE scoring to assess clinical signs were used. Results: A total of 273 patients were included. The mean age was 57.8 ± 11.5 years. The male to female distribution was 75% (202 and 25% (71, respectively. According to DNS instrument, 41.4% patients scored positive for the presence of neuropathy while only 24.5% had neuropathy according to DNE score. The proportion of males affected by neuropathy was more than females. 43.1% males had a positive DNS score while only 27.2% of them had a positive DNE score. Duration of the disease was positively correlated with neuropathy. Neuropathy was more prevalent among people who had higher systolic and diastolic blood pressure as per DNS and DNE instruments. Conclusions: The present study identified a higher proportion of males to be affected by neuropathy. Hence, more detailed evaluation must be accorded to elderly male diabetic patients with longer duration of the disease. Lifestyle modifications and watchful screening need to be incorporated as part of routine patient health education during follow-up clinic visits.

  1. Association between small fiber neuropathy and higher skin accumulation of advanced glycation end products in patients with type 1 diabetes.

    Science.gov (United States)

    Araszkiewicz, Aleksandra; Gandecka, Agnieszka; Nowicki, Michał; Uruska, Aleksandra; Malińska, Agnieszka; Kowalska, Katarzyna; Wierusz-Wysocka, Bogna; Zozulińska-Ziółkiewicz, Dorota

    2016-11-22

    INTRODUCTION Advanced glycation end products (AGEs) play a crucial role in the pathogenesis of diabetic peripheral neuropathy (DPN). OBJECTIVES The aim of the study was to assess the skin accumulation of AGEs in patients with long‑lasting type 1 diabetes in relation to the presence of DPN. PATIENTS AND METHODS We evaluated 178 patients with type 1 diabetes (99 men; age, 43 years [interquartile range [IQR], 34-54 years]; disease duration, 25 years [IQR, 18-31 years]). DPN was diagnosed if 2 or more of the following 5 abnormalities were present: symptoms of neuropathy, lack of ankle reflexes, and impaired sensation of touch, temperature, and/or vibration. PGP 9.5‑immunoreactive nerve fibers were counted to assess intraepidermal nerve fiber density (IENFD) in skin biopsy. The accumulation of AGEs in the skin was assessed on the basis of skin autofluorescence (AF).  RESULTS Patients with DPN (45%), compared with those without neuropathy, had higher skin AF (2.6 AU [IQR, 2.3-3.1 AU] vs 2.1 AU [IQR, 1.8-2.5 AU]; P skin AF and patients' age (Rs = 0.44; P skin AF and the estimated glomerular filtration rate (Rs = -0.26, P analysis, skin AF was independently associated with age (β = 0.45; P multivariate logistic regression, the presence of DPN was independently associated with skin AF (odds ratio, 4.16; 95% confidence interval, 1.88-9.20; P skin of patients with type 1 diabetes.

  2. Association of serum adipocytokine levels with cardiac autonomic neuropathy in type 2 diabetic patients

    Directory of Open Access Journals (Sweden)

    Jung Chan-Hee

    2012-03-01

    Full Text Available Abstract Background Cardiac autonomic neuropathy (CAN is a common complication of diabetes associated with poor prognosis. In addition, the autonomic imbalance is associated with cardiovascular disease (CVD in diabetes. It is thought that adipocytokines contribute to the increased risk of vascular complications in patients with type 2 diabetes mellitus (T2DM. However, literature data on the association between CAN with adipocytokines such as leptin, tumor necrosis factor-alpha (TNF-alpha, adiponectin in subjects with T2DM is limited. Therefore, in the present study, we examined the relationship between fasting serum leptin, TNF- alpha and adiponectin and CAN in Korean T2DM patients. Methods A total of 142 T2DM patients (94 males, 48 females were recruited. CAN was assessed by the five tests according to the Ewing's protocol and the time and frequency domain of the heart rate variability (HRV was evaluated. Serum TNF-alpha and adiponectin levels were measured using enzyme-linked immunosorbent assay and serum leptin levels were measured using radioimmunoassay. Results Although, the mean levels of leptin, TNF-alpha and adiponectin were not significantly different between the groups with and without CAN, the levels of leptin and adiponectin had a tendency to increase as the score of CAN increased (p = 0.05, p = 0.036. Serum leptin levels demonstrated a negative correlation with low frequency (LF in the upright position (p = 0.037. Regarding TNF-alpha, a significant negative correlation was observed with SDNN and RMSSD in the upright position (p = 0.023, p = 0.019. Adiponectin levels were not related to any HRV parameters. Multivariate logistic regression analysis demonstrated that the odds of CAN increased with a longer duration of diabetes (1.25, [1.07-1.47] and higher homeostatic model of assessment-insulin resistance (HOMA-IR (5.47, [1.8-16.5]. The relative risks for the presence of CAN were 14.1 and 51.6 for the adiponectin 2nd, 3rd tertiles

  3. Trigeminal sensory neuropathy and facial contact dermatitis due to Anthurium sp Neuropatia trigeminal sensitiva e dermatite de contato facial por Anthurium sp

    Directory of Open Access Journals (Sweden)

    Carlos A. Twardowschy

    2007-09-01

    Full Text Available BACKGROUND: Trigeminal sensory neuropathy (TSN describes a heterogeneous group of disorders manifesting as facial numbness. OBJECTIVE: We report the case of a patient who had TSN associated with contact dermatitis due to Anthurium sp. METHOD/RESULTS: A 21-year-old female patient developed left hemifacial contact dermatitis after exposure to the anthurium plant. The patient had paresthesias and pain in the V2 and V3 divisions of the left trigeminal nerve. Eight days after its onset the dermatitis resolved, but numbness developed in the V2 and V3 divisions of the left trigeminal nerve. Cranial CT scan and MRI, as well as CSF and extensive work-up exams, were normal. After one month the symptoms disappeared completely. CONCLUSION: Anthurium sp, an indoor ornamental plant that contains calcium oxalate crystals, and can causes contact dermatitis. To our knowledge, this is the first report associating TSN with contact dermatitis due to Anthurium sp.INTRODUÇÃO: A neuropatia trigeminal sensitiva (NTS representa um grupo heterogêneo de doenças, cuja manifestação clínica é a presença de dormência na região facial. OBJETIVO: Relatamos o caso de paciente que apresenta NTS associada com dermatite de contato (DC devido à planta Anthurium sp. MÉTODO/RESULTADOS: Uma paciente com 21 anos desenvolveu DC na região hemi-facial esquerda, após exposição à planta Anthurium sp. Após a resolução do quadro de dermatite, a referida paciente apresentou dormência e parestesias no território do segundo e terceiro ramos do nervo trigêmeo esquerdo. Um mês após o início do quadro houve resolução completa dos sintomas. CONCLUSÃO: O Anthurium é uma planta ornamental que contém cristas de oxalato de cálcio, que podem causar DC. Para o nosso conhecimento este é o primeiro relato associando NTS e dermatite de contato devido à exposição ao Anthurium sp.

  4. The effects of intradermal botulinum toxin type a injections on pain symptoms of patients with diabetic neuropathy

    Directory of Open Access Journals (Sweden)

    Majid Ghasemi

    2014-01-01

    Full Text Available Background: Considering the dramatic increasing rate of diabetes and consequently its related complications, most importantly diabetic peripheral neuropathy (DPN, challenges regarding proper treatment of DPN and its effect on the quality-of-life and care of diabetic patients, the aim of this current study is to evaluate the effect of intradermal botulinum toxin type A (BTX-A injections on pain symptoms of patients with diabetic neuropathic pain. Materials and Methods: In this randomized double-blind placebo-controlled clinical trial study, diabetic patients aged <70 years with neuropathic pain in both feet were enrolled. Diabetic neuropathy (DN in selected patients was diagnosed using DN4 questionnaire and nerve conduction velocity examinations. They randomized in two intervention (BTX-A injection/100 unit, N = 20 and placebo groups (normal saline injection, N = 20. The outcome of injection on diabetic neuropathic pain was assessed using neuropathy pain scale (NPS and visual analog scale (VAS score and compared in two studied groups. Results: There was no significant difference in DN4, NPS and VAS scales of studied population after intervention in the placebo group. Intradermal injection of BTX-A reduced NPS scores for all items except cold sensation (P = 0.05. It reduced DN4 scores for electric shocks, burning, pins and needles and brushing (P < 0.05. According to VAS scale 30% and 0% of patients in intervention and placebo groups have no pain after intervention (P = 0.01. Conclusion: Intradermal injection of BTX-A is a well-tolerated agent that has a significant effect on DPN pain.

  5. [The relationship between sleep quality and diabetic autonomic neuropathy in elder patients with type 2 diabetes mellitus].

    Science.gov (United States)

    Zhang, Jie; Zhang, Lina; Guo, Lixin

    2016-03-01

    To explore the relationship between the sleep quality and diabetic autonomic neuropathy of elder patients with type 2 diabetes mellitus. A total of 90 elder patients with diabetes in Beijing Hospital was enrolled in this study. Questionnaires of Pittsburgh Sleep Quality Index(PSQI) were completed to evaluate the quality of sleep and Holter was applied to evaluate heart rate variability (HRV). Other related clinical data such as, catecholamine[epinephrine(E); norepinephrine(NE); dopamine(DA)]and diabetes complications were also collected after admission to the hospital. Patients were divided into three groups: the poor-sleeper group, the common-sleeper group and the good-sleeper group according to PSQI score. HRV and the level of catecholamine were compared among three groups. The level of HRV including meanNN [(743 ± 58) ms vs(824 ± 99)ms and (837 ± 104)ms], ASDNN [(30 ± 10)ms vs (39 ± 14)ms and (41 ± 14)ms], very low frequency(VLF)[(15.33 ± 6.10)ms(2) vs(22.11 ± 7.94)ms(2) and (22.66 ± 7.87)ms(2)], low frequency (LF)[(8.30 ± 3.95) ms(2) vs(12.58 ± 6.11)ms(2) and(12.81 ± 6.96)ms(2)] and LF/high frequency(HF)[(1.23 ± 0.32) vs (1.56 ± 0.46) and (1.47 ± 0.42)] in the poor-sleeper group were lower than in both the common-sleeper group and good-sleeper group (all PSleep quality is associated with the severity of diabetic autonomic neuropathy and might be one of clinical features for diabetic autonomic neuropathy.

  6. MDCT assessment of CAD in type-2 diabetic subjects with diabetic neuropathy: the role of Charcot neuro-arthropathy

    International Nuclear Information System (INIS)

    Marano, Riccardo; Savino, Giancarlo; Merlino, Biagio; Pirro, Federica; Rutigliano, Claudia; Santangelo, Carolina; Minoiu, Aurelian Costin; Natale, Luigi; Bonomo, Lorenzo; Pitocco, Dario; Di Stasio, Enrico; Trani, Carlo

    2016-01-01

    To compare the CACS and CAD severity assessed by MDCT in neuropathic type-2 diabetic patients with and without Charcot-neuroarthropathy (CN). Thirty-four CN asymptomatic-patients and 36 asymptomatic-patients with diabetic-neuropathy (DN) without CN underwent MDCT to assess CACS and severity of CAD. Patients were classified as positive for significant CAD in presence of at least one stenosis >50 % on MDCT-coronary-angiography (MDCT-CA). Groups were matched for age, sex and traditional CAD risk-factors. The coronary-angiography (CA) was performed in all patients with at least a significant stenosis detected by MDCT-CA, both as reference and eventually as treatment. CN patients showed higher rates of significant CAD in comparison with DN subjects [p < 0.001], while non-significant differences were observed in CACS (p = 0.980). No significant differences were also observed in CACS distribution in all subjects for stenosis ≥/<50 % (p = 0.814), as well as in both groups (p = 0.661 and 0.559, respectively). The MDCT-CA showed an overall diagnostic-accuracy for significant CAD of 87 %. These preliminary data suggest that CN-patients have a higher prevalence of severe CAD in comparison with DN-patients, while coronary plaques do not exhibit an increased amount of calcium. MDCT may be helpful to assess the CV risk in such asymptomatic type-2-diabetic patients with autonomic-neuropathy. (orig.)

  7. MDCT assessment of CAD in type-2 diabetic subjects with diabetic neuropathy: the role of Charcot neuro-arthropathy

    Energy Technology Data Exchange (ETDEWEB)

    Marano, Riccardo; Savino, Giancarlo; Merlino, Biagio; Pirro, Federica; Rutigliano, Claudia; Santangelo, Carolina; Minoiu, Aurelian Costin; Natale, Luigi; Bonomo, Lorenzo [Catholic University of Rome, ' ' A. Gemelli' ' University Hospital, Department of Radiological Sciences - Institute of Radiology, Rome (Italy); Pitocco, Dario [Catholic University of Rome, ' ' A. Gemelli' ' University Hospital, Department of Internal Medicine, Rome (Italy); Di Stasio, Enrico [Catholic University of Rome, ' ' A. Gemelli' ' University Hospital, Department of Clinical Biochemistry, Rome (Italy); Trani, Carlo [Catholic University of Rome, ' ' A. Gemelli' ' University Hospital, Department of Cardiovascular Medicine - Institute of Cardiology, Rome (Italy)

    2016-03-15

    To compare the CACS and CAD severity assessed by MDCT in neuropathic type-2 diabetic patients with and without Charcot-neuroarthropathy (CN). Thirty-four CN asymptomatic-patients and 36 asymptomatic-patients with diabetic-neuropathy (DN) without CN underwent MDCT to assess CACS and severity of CAD. Patients were classified as positive for significant CAD in presence of at least one stenosis >50 % on MDCT-coronary-angiography (MDCT-CA). Groups were matched for age, sex and traditional CAD risk-factors. The coronary-angiography (CA) was performed in all patients with at least a significant stenosis detected by MDCT-CA, both as reference and eventually as treatment. CN patients showed higher rates of significant CAD in comparison with DN subjects [p < 0.001], while non-significant differences were observed in CACS (p = 0.980). No significant differences were also observed in CACS distribution in all subjects for stenosis ≥/<50 % (p = 0.814), as well as in both groups (p = 0.661 and 0.559, respectively). The MDCT-CA showed an overall diagnostic-accuracy for significant CAD of 87 %. These preliminary data suggest that CN-patients have a higher prevalence of severe CAD in comparison with DN-patients, while coronary plaques do not exhibit an increased amount of calcium. MDCT may be helpful to assess the CV risk in such asymptomatic type-2-diabetic patients with autonomic-neuropathy. (orig.)

  8. Sensory properties and consumer acceptance of a stirred-type ...

    African Journals Online (AJOL)

    The consumer panelists (n = 150) evaluated taste, texture, colour, smell and aftertaste of the yoghurt. In general, the sensory scores of the baobab flavoured yoghurt and plain yoghurt decreased with storage time. The plain yoghurt had higher appearance scores from day 1 up to day 28 as compared to the baobab flavoured ...

  9. Peripheral neuropathy response to erythropoietin in type 2 diabetic patients with mild to moderate renal failure.

    Science.gov (United States)

    Hosseini-Zare, Mahshid Sadat; Dashti-Khavidaki, Simin; Mahdavi-Mazdeh, Mitra; Ahmadi, Farrokhlegha; Akrami, Shahram

    2012-07-01

    This study assessed the added effect of 6 months of erythropoietin (EPO) administration in patients suffering from diabetic neuropathy with mild to moderate chronic kidney disease (CKD) managed with gabapentin. Twenty diabetic patients with mild to moderate CKD were included; 12 in gabapentin and 8 in EPO+gabapentin group. The subjects underwent nerve conduction studies (NCS) at the initiation of the investigation and after 6-month treatment. NCS were made in deep and superficial peroneal, tibial, and sural nerves. After 6 months, in both the groups, proximal motor latency (PML) nonsignificantly improved in deep peroneal and tibial nerves; conversely, dorsal motor latency (DML) got slightly impaired in these two nerves. A nonsignificant disruption and improvement was observed in deep peroneal and tibial motor nerve conduction velocity (MNCV), respectively, in gabapentin group. Although the F-wave of tibial and deep peroneal nerves remained stable in gabapentin group, a nonsignificant improvement was observed in EPO+gabapentin group. H-reflex of tibial nerve and all the evaluated parameters of sural and superficial peroneal nerves remained constant in all patients. Thus, it can be concluded that 6-month administration of EPO+gabapentin, or gabapentin alone in mild to moderate CKD patients with diabetic neuropathy could not improve nerve performance. Copyright © 2012 Elsevier B.V. All rights reserved.

  10. A Comparison of Screening Tools for the Early Detection of Peripheral Neuropathy in Adults with and without Type 2 Diabetes

    Directory of Open Access Journals (Sweden)

    Jennifer J. Brown

    2017-01-01

    Full Text Available Objective. Examine the effectiveness of the 128 Hz tuning fork, two monofilaments, and Norfolk Quality of Life Diabetic Neuropathy (QOL-DN questionnaire as tools for the early detection of diabetic peripheral neuropathy (DPN in overweight, obese, and inactive (OOI adults or those who have prediabetes (PD or type 2 diabetes (T2D. Research Design and Methods. Thirty-four adults (mean age 58.4 years ± 12.1 were divided by glycemia (10 OOI normoglycemic, 13 PD, and 11 T2D. Sural nerves were tested bilaterally with the NC-stat DPNCheck to determine sural nerve amplitude potential (SNAP and sural nerve conduction velocity (SNCV. All other testing results were compared to SNAP and SNCV. Results. Total 1 g monofilament scores significantly correlated with SNAP values and yielded the highest sensitivity and specificity combinations of tested measures. Total QOL-DN scores negatively correlated with SNAP values, as did QOL-DN symptoms. QOL-DN activities of daily living correlated with the right SNAP, and the QOL-DN small fiber subscore correlated with SNCV. Conclusions. The 1 g monofilament and total QOL-DN are effective, low-cost tools for the early detection of DPN in OOI, PD, and T2D adults. The 128 Hz tuning fork and 10 g monofilament may assist DPN screening as a tandem, but not primary, early DPN detection screening tools.

  11. Comparing of Cox model and parametric models in analysis of effective factors on event time of neuropathy in patients with type 2 diabetes.

    Science.gov (United States)

    Kargarian-Marvasti, Sadegh; Rimaz, Shahnaz; Abolghasemi, Jamileh; Heydari, Iraj

    2017-01-01

    Cox proportional hazard model is the most common method for analyzing the effects of several variables on survival time. However, under certain circumstances, parametric models give more precise estimates to analyze survival data than Cox. The purpose of this study was to investigate the comparative performance of Cox and parametric models in a survival analysis of factors affecting the event time of neuropathy in patients with type 2 diabetes. This study included 371 patients with type 2 diabetes without neuropathy who were registered at Fereydunshahr diabetes clinic. Subjects were followed up for the development of neuropathy between 2006 to March 2016. To investigate the factors influencing the event time of neuropathy, significant variables in univariate model ( P Cox and parametric models ( P Cox and parametric models, ethnicity, high-density lipoprotein and family history of diabetes were identified as predictors of event time of neuropathy ( P Cox and parametric models. According to the results of comparison of survival receiver operating characteristics curves, log-normal model was considered as the most efficient and fitted model.

  12. The Impact of Diabetic Neuropathy on Balance and on the Risk of Falls in Patients with Type 2 Diabetes Mellitus: A Cross-Sectional Study.

    Directory of Open Access Journals (Sweden)

    Bogdan Timar

    Full Text Available Diabetic neuropathy (DN is a prevalent complication of Type 2 Diabetes Mellitus (T2DM with a major impact on the health of the affected patient. We hypothesized that mediated by the dysfunctionalities associated with DN's three major components: sensitive (lack of motion associated sensory, motor (impairments in movement coordination and autonomic (the presence of postural hypotension, the presence of DN may impair the balance in the affected patients. Our study's main aim is to evaluate the possible association between the presence and severity of DN and both the balance impairment and the risk of falls in patients with T2DM.In this cross-sectional study we enrolled, according to a consecutive-case population-based setting 198 patients with T2DM. The presence and severity of DN was evaluated using the Michigan Neuropathy Screening Instrument, a tool which allows both diagnosing and severity staging of DN. The balance impairment and the risk of falls were evaluated using four validated and standardized tools: Berg Balance Scale (BBS, Timed-up and Go test (TUG, Single Leg Stand test (SLS and Fall Efficacy Scale (FES-I.The presence of DN was associated with significant decreases in the BBS score (40.5 vs. 43.7 points; p<0.001 and SLS time (9.3 vs. 10.3 seconds; p = 0.003 respectively increases in TUG time (8.9 vs. 7.6 seconds; p = 0.002 and FES-I score (38 vs. 33 points; p = 0.034. The MNSI score was reverse and significantly correlated with both BBS score (Spearman's r = -0.479; p<0.001 and SLS time (Spearman's r = -0.169; p = 0.017. In the multivariate regression model, we observed that patient's age, DN severity and depression's symptoms acted as independent, significant predictors for the risk of falls in patients with T2DM.The presence of DN in patients with DM is associated with impaired balance and with a consecutively increase in the risk of falls.

  13. GRS defective axonal distribution as a potential contributor to distal spinal muscular atrophy type V pathogenesis in a new model of GRS-associated neuropathy.

    Science.gov (United States)

    Seo, Ah Jung; Park, Byung Sun; Jung, Junyang

    2014-11-01

    Distal spinal muscular atrophy type V (dSMA-V), a hereditary axonal neuropathy, is a glycyl-tRNA synthetase (GRS)-associated neuropathy caused by a mutation in GRS. In this study, using an adenovirus vector system equipped with a neuron-specific promoter, we constructed a new GRS-associated neuropathy mouse model. We found that wild-type GRS (WT) is distributed in peripheral axons, dorsal root ganglion (DRG) cell bodies, central axon terminals and motor neuron cell bodies in the mouse model. In contrast, the L129P mutant GRS was localized in DRG and motor neuron cell bodies. Thus, we propose that the disease-causing L129P mutant is linked to a distribution defect in peripheral nerves in vivo. Copyright © 2014 Elsevier B.V. All rights reserved.

  14. The role of aberrant mitochondrial bioenergetics in diabetic neuropathy.

    Science.gov (United States)

    Chowdhury, Subir K Roy; Smith, Darrell R; Fernyhough, Paul

    2013-03-01

    Diabetic neuropathy is a neurological complication of diabetes that causes significant morbidity and, because of the obesity-driven rise in incidence of type 2 diabetes, is becoming a major international health problem. Mitochondrial phenotype is abnormal in sensory neurons in diabetes and may contribute to the etiology of diabetic neuropathy where a distal dying-back neurodegenerative process is a key component contributing to fiber loss. This review summarizes the major features of mitochondrial dysfunction in neurons and Schwann cells in human diabetic patients and in experimental animal models (primarily exhibiting type 1 diabetes). This article attempts to relate these findings to the development of critical neuropathological hallmarks of the disease. Recent work reveals that hyperglycemia in diabetes triggers nutrient excess in neurons that, in turn, mediates a phenotypic change in mitochondrial biology through alteration of the AMP-activated protein kinase (AMPK)/peroxisome proliferator-activated receptor γ coactivator-1α (PGC-1α) signaling axis. This vital energy sensing metabolic pathway modulates mitochondrial function, biogenesis and regeneration. The bioenergetic phenotype of mitochondria in diabetic neurons is aberrant due to deleterious alterations in expression and activity of respiratory chain components as a direct consequence of abnormal AMPK/PGC-1α signaling. Utilization of innovative respirometry equipment to analyze mitochondrial function of cultured adult sensory neurons from diabetic rodents shows that the outcome for cellular bioenergetics is a reduced adaptability to fluctuations in ATP demand. The diabetes-induced maladaptive process is hypothesized to result in exhaustion of the ATP supply in the distal nerve compartment and induction of nerve fiber dissolution. The role of mitochondrial dysfunction in the etiology of diabetic neuropathy is compared with other types of neuropathy with a distal dying-back pathology such as Friedreich

  15. Autonomic neuropathies

    Science.gov (United States)

    Low, P. A.

    1998-01-01

    A limited autonomic neuropathy may underlie some unusual clinical syndromes, including the postural tachycardia syndrome, pseudo-obstruction syndrome, heat intolerance, and perhaps chronic fatigue syndrome. Antibodies to autonomic structures are common in diabetes, but their specificity is unknown. The presence of autonomic failure worsens prognosis in the diabetic state. Some autonomic neuropathies are treatable. Familial amyloid polyneuropathy may respond to liver transplantation. There are anecdotal reports of acute panautonomic neuropathy responding to intravenous gamma globulin. Orthostatic hypotension may respond to erythropoietin or midodrine.

  16. No effect of Pindolol on postural hypotension in type 1 (insulin-dependent) diabetic patients with autonomic neuropathy. A randomised double-blind controlled study

    DEFF Research Database (Denmark)

    Dejgård, A; Hilsted, J

    1988-01-01

    of this therapy we performed a double-blind placebo controlled cross-over study with Pindolol (15 mg/day). Eight Type 1 (insulin-dependent) diabetic patients with autonomic neuropathy and signs and symptoms of orthostatic hypotension (systolic blood pressure decrease greater than 30 mm Hg when standing......Orthostatic hypotension is one of the most troublesome symptoms in diabetic autonomic neuropathy. Some reports have suggested Pindolol - a beta-adrenoceptor antagonist with intrinsic sympathomimetic activity - to be effective in the treatment of this condition. In order to elucidate the value...

  17. Infectious neuropathies.

    Science.gov (United States)

    Robinson-Papp, Jessica

    2012-02-01

    The purpose of this review is to address bacterial, viral, and other infectious causes of neuropathy or neuronopathy, with an emphasis on clinical manifestations and treatment. Most infectious neuropathies have been well described for some time and treatments are well established. An exception is HIV-associated distal symmetric polyneuropathy, which is an area of active research. Current work in this area focuses on epidemiology, risk factors, and underlying mechanisms. Infectious diseases are an important part of the differential diagnosis of peripheral nerve disorders because they are among the most amenable to treatment. However, diagnosis of infectious peripheral neuropathy may be challenging because of variability in a number of factors, including the pattern of deficits, geographic distribution of pathogens, length of time from the onset of infection to the development of neuropathy, and mechanism of nerve injury.

  18. Peripheral Neuropathy: Symptoms and Signs

    Science.gov (United States)

    ... the body—in both hands or in both feet. Some types of peripheral neuropathy develop suddenly, while others progress more slowly over many years. The symptoms of peripheral neuropathy often include: ... sleeping because of feet and leg pain Loss of balance and coordination ...

  19. Autonomic neuropathy in nondiabetic offspring of type 2 diabetic subjects is associated with urinary albumin excretion rate and 24-h ambulatory blood pressure: the Fredericia Study

    DEFF Research Database (Denmark)

    Foss, Anne-Catherine; Vestbo, Else; Frøland, Anders

    2001-01-01

    The aim of this study was to examine the impact of parental type 2 diabetes on the autonomic nervous system and to determine whether autonomic neuropathy is present and associated with changes in 24-h ambulatory blood pressure (AMBP) and urinary albumin excretion rate (UAER) in nondiabetic subjec...

  20. The effect of raw milk microbial flora on the sensory characteristics of salers-type cheeses

    OpenAIRE

    Callon, Cecile; Berdagué, Jean-Louis; Montel, Marie-Christine

    2005-01-01

    The sensory characteristics of Salers Protected Denomination of Origin raw-milk cheeses are linked to the biochemical composition of the raw material (milk) and to the resultant microbial community. To evaluate the influence of the microbial community on sensory characteristics, Salers-type cheeses were manufactured with the same pasteurized milk, reinoculated with 3 different microbial communities from 3 different filtrates from microfiltered milks. Each cheese was subjected to microbial cou...

  1. Limiar de sensibilidade cutânea dos pés em pacientes diabéticos através do pressure specified sensory device: uma avaliação da neuropatia Cutaneous sensibility threshold in the feet of diabetic patients with pressure specified sensory device: an assessment of the neuropathy

    Directory of Open Access Journals (Sweden)

    Viviane Fernandes de Carvalho

    2009-01-01

    Full Text Available OBJETIVO: A neuropatia diabética leva à diminuição ou perda da sensibilidade protetora do pé, tornando o diabético mais vulnerável ao trauma mecânico, consequentemente, levando-o à formação de feridas e eventualmente, perda segmentar nos membros inferiores. A profilaxia das complicações neuropáticas deve ser iniciada pela identificação do grau de neuropatia e, portanto, do comprometimento neurológico. O Pressure Specified Sensory DeviceTM foi desenvolvido para quantificar o limiar de pressão aplicada sobre a pele, necessário para que o paciente sinta o estímulo de um ponto estático, um ponto em movimento, dois pontos estáticos e dois pontos em movimento. É um meio direto para se avaliar os sistemas de fibras de adaptação lenta e rápida e seus respectivos receptores periféricos. MÉTODOS: Trinta e três pacientes diabéticos do tipo II, sem história prévia de feridas e/ou amputações nos pés foram avaliados neste estudo de corte transversal. A sensibilidade nos territórios cutâneos dos nervos plantar medial, calcâneo e o ramo profundo do nervo fibular foi avaliada usando os testes de um ponto estático (1PE, um ponto dinâmico (1PD, dois pontos estáticos (2PE e dois dinâmicos (2PD. RESULTADOS: Nos três territórios nervosos examinados encontramos valores alterados para as modalidades estática e dinâmica em relação ao padrão de normalidade. As diferenças foram estatisticamente significantes com p OBJECTIVES: Neuropathy is a severe progressive loss of protective sensation in the feet, increasing patient vulnerability to mechanical trauma and consequently more prone to development of chronic wounds, major distortion of the foot bone architecture and to eventual limb amputation. Prophylaxis should be enforced to avoid foot ulceration and for this purpose, evaluation of the degree of loss of sensation on the skin is essential. The PSSD (Pressure Specified Sensory DeviceTM was developed to quantify the

  2. The content of sensory active compounds and flavour of several types of yogurts

    Directory of Open Access Journals (Sweden)

    Eva Vítová

    2010-01-01

    Full Text Available The aim of this work was to identify and quantify several sensory active compounds in various types of yogurts using gas chromatography and simultaneously to judge their influence on flavour of yogurts using sensory analysis. In total 4 types of white and 10 types of flavoured yogurts (creamy and low-fat with various flavourings, produced in Dairy Valašské Meziříčí, Ltd., were analysed. The highest content of sensory active compounds (P < 0.05 was found in strawberry yogurts, with high amount of ethyl butyrate. Excepting ethanol no significant differences (P < 0.05 were found between low-fat and creamy varieties. The total content of sensory active compounds in white yogurts was significantly (P < 0.05 lower than in flavoured fruit types. The highest content was in low-fat and lowest in white bio yoghurts. Flavour of yogurts was evaluated sensorially using scale and ranking test. All creamy yogurt varieties were evaluated as significantly (P < 0.05 more tasty than low-fat ones. Similarly in case of white yogurts creamy yogurts were evaluated as the most tasty and low-fat ones as the worst. Bio yogurts were evaluated equally tasty as classic yogurts with the same fat content.

  3. The effect of raw milk microbial flora on the sensory characteristics of Salers-type cheeses.

    Science.gov (United States)

    Callon, C; Berdagué, J L; Dufour, E; Montel, M C

    2005-11-01

    The sensory characteristics of Salers Protected Denomination of Origin raw-milk cheeses are linked to the biochemical composition of the raw material (milk) and to the resultant microbial community. To evaluate the influence of the microbial community on sensory characteristics, Salers-type cheeses were manufactured with the same pasteurized milk, reinoculated with 3 different microbial communities from 3 different filtrates from microfiltered milks. Each cheese was subjected to microbial counts (on selective media), biochemical tests, and volatile and sensory component analyses at different times of ripening. Adding different microbial communities to specimens of the same (biochemically identical) pasteurized milk lead to different sensory characteristics of the cheeses. Cheeses with fresh cream, hazelnut, and caramel attributes were opposed to those with fermented cream, chemical, and garlic flavors. The aromatic compounds identified (esters, acids, alcohols, and aldehydes) in these cheeses were quite similar. Nevertheless, one milk was distinguished by a higher content of acetoin, and lower 2-butanone and 3-methylpentanone concentrations. Over the production period of 1 mo, the different cheeses were characterized by the same balance of the microbial population assessed by microbial counts on different media. This was associated with the stability of some sensory attributes describing these cheeses. Nevertheless, there was no linear correlation between microbial flora data and sensory characteristics as measured in this study.

  4. Glycemic variability is an important risk factor for cardiovascular autonomic neuropathy in newly diagnosed type 2 diabetic patients.

    Science.gov (United States)

    Xu, Wen; Zhu, Yanhua; Yang, Xubin; Deng, Hongrong; Yan, Jinhua; Lin, Shaoda; Yang, Huazhang; Chen, Hong; Weng, Jianping

    2016-07-15

    The relationship between glycemic variability, another component of glycemic disorders as well as chronic sustained hyperglycemia, and cardiovascular autonomic neuropathy (CAN) has not been clarified. Our aim is to investigate the association between glycemic variability and CAN in newly diagnosed type 2 diabetic patients. Ewing tests were performed in 90 newly diagnosed type 2 diabetic patients and 37 participants with normal glucose tolerance as control from May 1, 2009, through September 30, 2010. According to the scores from Ewing tests, diabetic patients were divided into two groups: without CAN (CAN-) and with CAN (CAN+). All participants underwent a 48-h to 72-h continuous glucose monitoring (CGM). Coefficient of variability of glycemia (%CV), mean amplitude of glycemic excursions (MAGE) and means of daily differences (MODD) were calculated with the CGM data. The prevalence of CAN in patients with newly diagnosed type 2 diabetes was 22.2%. An increasing trend of glycemic variability was found from control group, CAN- group to CAN+ group. MAGE in CAN+ group was significantly higher than that in CAN- group (5.27±1.99mmol/L vs. 4.04±1.39mmol/L, P=0.001). In the Logistic regression analysis, a significant relationship was shown between MAGE and CAN [odds ratio (OR): 1.73, 95% confidence interval (CI): 1.01-2.73, P=0.018)]. The area under the receiver-operating characteristic curve for MAGE was superior to those for other dysglycemic indices in detecting CAN. Glycemic variability is associated with CAN in patients with newly diagnosed type 2 diabetes. Among the glycemic variability indices, MAGE is a significant indicator for detecting CAN. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  5. Postural control and functional strength in patients with type 2 diabetes mellitus with and without peripheral neuropathy.

    Science.gov (United States)

    Vaz, Maíta M; Costa, Gustavo C; Reis, Julia G; Junior, Wilson Marques; Albuquerque de Paula, Francisco José; Abreu, Daniela C

    2013-12-01

    To assess the influence of diabetic neuropathy (DN) on balance and functional strength in patients with diabetes mellitus type 2 (DM2). Cross-sectional study. Diabetes outpatient unit. Adults (N=62; age range, 40-65y): 32 with DM2 (19 subjects without DN and 13 with DN) and 30 without DM2 (control group). Not applicable. Upright balance, evaluated in 4 situations (fixed platform, unstable platform, with eyes open, with eyes closed), and functional strength, assessed with a five-times-sit-to-stand test, were analyzed using an electromagnetic system, with a sensor placed over C7 to allow maximum trunk displacements in the anterior-posterior and medial-lateral directions. The Berg Balance Scale and the Timed Up & Go test were also used. Subjects with DM2 had greater anterior-posterior displacement (Pdisplacement was observed between these groups. A difference in time was observed in the five-times-sit-to-stand test (P<.05), with subjects in the control group performing the tasks faster than either group of subjects with DM2. Additionally, subjects in the control group showed a higher score in the Berg Balance Scale and performed the Timed Up & Go test in less time compared with subjects in other groups. Subjects with DM2, with or without DN, showed deficits in postural control and functional strength compared with healthy individuals of the same age group. Copyright © 2013 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

  6. [Peripheral neuropathy caused by thallium poisoning].

    Science.gov (United States)

    Kubis, N; Talamon, C; Smadja, D; Said, G

    1997-10-01

    A 20-year-old man developed over three weeks a sensory and painful neuropathy associated with diffuse alopecia. There was motor weakness, and superficial and deep hypoesthesia of the inferior limbs. Deep tendon reflexes were normal. Electrophysiological study mainly showed axonal motor neuropathy. This patient was admitted six weeks after the first symptoms. The clinical picture suggested thallium poisoning, which was confirmed by thallium concentrations in plasma, urine, hair and nails. After search, thallium was identified in a rat poison.

  7. N-hexane neuropathy in offset printers.

    OpenAIRE

    Chang, C M; Yu, C W; Fong, K Y; Leung, S Y; Tsin, T W; Yu, Y L; Cheung, T F; Chan, S Y

    1993-01-01

    In an offset printing factory with 56 workers, 20 (36%) developed symptomatic peripheral neuropathy due to exposure to n-hexane. Another 26 workers (46%) were found to have subclinical neuropathy. The initial change in the nerve conduction study was reduced amplitude of the sensory action potentials, followed by reduced amplitude of the motor action potentials, reduction in motor conduction velocities and increase in distal latencies. These changes indicate primary axonal degeneration with se...

  8. An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients

    Science.gov (United States)

    2017-06-09

    Charcot Marie Tooth Disease (CMT); Hereditary Sensory and Motor Neuropathy; Nerve Compression Syndromes; Tooth Diseases; Congenital Abnormalities; Genetic Diseases, Inborn; Heredodegenerative Disorders, Nervous System

  9. The Relationship between Sensory Processing Difficulties and Leisure Activity Preference of Children with Different Types of ADHD

    Science.gov (United States)

    Engel-Yeger, Batya; Ziv-On, Daniella

    2011-01-01

    Sensory processing difficulties (SPD) are prevalent among children with ADHD. Yet, the question whether different SPD characterize children with different types of ADHD has not received enough attention in the literature. The current study characterized sensory processing difficulties (SPD) of children with different types of ADHD and explored the…

  10. Presence of Peripheral Neuropathy Is Associated With Progressive Thinning of Retinal Nerve Fiber Layer in Type 1 Diabetes.

    Science.gov (United States)

    Dehghani, Cirous; Srinivasan, Sangeetha; Edwards, Katie; Pritchard, Nicola; Russell, Anthony W; Malik, Rayaz A; Efron, Nathan

    2017-05-01

    Reduced retinal nerve fiber layer (RNFL) thickness has been demonstrated in patients with diabetic peripheral neuropathy (DPN) in cross-sectional studies. This prospective study defines longitudinal alterations to the RNFL thickness in individuals with type 1 diabetes without (DPN-ve) and with (DPN+ve) DPN and in relation to risk factors for nerve damage. A cohort of 105 individuals with type 1 diabetes (20% DPN+ve) with predominantly mild or no retinopathy and no previous retinal photocoagulation underwent spectral-domain optical coherence tomography (SD-OCT) at baseline, 2 years, and 4 years. SD-OCT scans were acquired at 3.45-mm diameter around the optic nerve head and the overall RNFL and RNFL in the nasal, superior, temporal, and inferior quadrants were quantified. By including serial quantified RNFL parameters, linear mixed models were applied to assess the change in RNFL thickness over time and to explore the associations with other clinical variables. There was a significant decline in the overall RNFL thickness (-0.7 μm/y, P = 0.02) and RNFL in the superior quadrant (-1.9 μm/y, P diabetes duration, hemoglobin A1c, lipid profile, blood pressure, cigarette use, alcohol consumption, and body mass index did not show any significant effects (P > 0.05). Individuals with DPN showed a progressive RNFL thinning overall and in the superior quadrant, which was more pronounced in older individuals. There may be common pathways for retinal and peripheral neurodegeneration that are independent of conventional DPN risk factors.

  11. Mutational analysis of the myelin protein zero (MPZ) gene associated with Charcot-Marie-Tooth neuropathy type 1B

    Energy Technology Data Exchange (ETDEWEB)

    Roa, B.B.; Warner, L.E.; Lupski, J.R. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1994-09-01

    The MPZ gene that maps to chromosome 1q22q23 encodes myelin protein zero, which is the most abundant peripheral nerve myelin protein that functions as a homophilic adhesion molecule in myelin compaction. Association of the MPZ gene with the dysmyelinating peripheral neuropathies Charcot-Marie-Tooth disease type 1B (CMT1B) and the more severe Dejerine-Sottas syndrome (DSS) was previously demonstrated by MPZ mutations identified in CMT1B and in rare DSS patients. In this study, the coding region of the MPZ gene was screened for mutations in a cohort of 74 unrelated patients with either CMT type 1 or DSS who do not carry the most common CMT1-associated molecular lesion of a 1.5 Mb DNA duplication on 17p11.2-p12. Heteroduplex analysis detected base mismatches in ten patients that were distributed over three exons of MPZ. Direct sequencing of PCR-amplified genomic DNA identified a de novo MPZ mutation associated with CMT1B that predicts an Ile(135)Thr substitution. This finding further confirms the role of MPZ in the CMT1B disease process. In addition, two polymorphisms were identified within the Gly(200) and Ser(228) codons that do not alter the respective amino acid residues. A fourth base mismatch in MPZ exon 3 detected by heteroduplex analysis is currently being characterized by direct sequence determination. Previously, four unrelated patients in this same cohort were found to have unique point mutations in the coding region of the PMP22 gene. The collective findings on CMT1 point mutations could suggest that regulatory region mutations, and possibly mutations in CMT gene(s) apart from the MPZ, PMP22 and Cx32 genes identified thus far, may prove to be significant for a number of CMT1 cases that do not involve DNA duplication.

  12. Cardiovascular autonomic neuropathy is associated with macrovascular risk factors in type 2 diabetes: new technology used for routine large-scale screening adds new insight.

    Science.gov (United States)

    Fleischer, Jesper; Yderstraede, Knud; Gulichsen, Elisabeth; Jakobsen, Poul Erik; Lervang, Hans Henrik; Eldrup, Ebbe; Nygaard, Hans; Tarnow, Lise; Ejskjaer, Niels

    2014-07-01

    The objective was to identify the presence of cardiovascular autonomic neuropathy (CAN) in a cohort of individuals with diabetes in outpatient clinics from 4 different parts of Denmark and to explore the difference between type 1 and type 2 diabetes in relation to CAN. The DAN-Study is a Danish multicenter study focusing on diabetic autonomic neuropathy. Over a period of 12 months, 382 type 1 and 271 type 2 individuals with diabetes were tested for CAN. Patients were randomly recruited and tested during normal visits to outpatient clinics at 4 Danish hospitals. The presence of CAN was quantified by performing 3 cardiovascular reflex tests (response to standing, deep breathing, and valsalva). To describe possible associations, multivariate analysis with CAN as the dependent variable was performed. The prevalence of CAN was higher among patients with type 2 diabetes (35%) compared to patients with type 1 diabetes (25%). Multivariate analysis revealed significant associations between CAN and different risk markers in the 2 populations. In type 1 diabetes patients CAN was associated with microalbuminuria (P type 2 diabetes patients CAN was independently associated with high pulse pressure (P type 1, whereas in type 2 CAN was associated with macrovascular risk factors. © 2014 Diabetes Technology Society.

  13. No effect of Pindolol on postural hypotension in type 1 (insulin-dependent) diabetic patients with autonomic neuropathy. A randomised double-blind controlled study

    DEFF Research Database (Denmark)

    Dejgård, A; Hilsted, J

    1988-01-01

    of this therapy we performed a double-blind placebo controlled cross-over study with Pindolol (15 mg/day). Eight Type 1 (insulin-dependent) diabetic patients with autonomic neuropathy and signs and symptoms of orthostatic hypotension (systolic blood pressure decrease greater than 30 mm Hg when standing......) participated in the study. Patients were treated for 10 weeks. Clinical examinations were performed every fortnight and patients registered postural symptoms twice daily on a visual analog scale. No significant changes were seen in blood pressure recordings, heart-rate or visual analog scale registration...... during treatment with Pindolol compared to placebo. Our study does not support the suggestion that Pindolol is a valuable drug for treatment of diabetic patients with autonomic neuropathy and postural giddiness....

  14. Cardiovascular autonomic neuropathy and subclinical cardiovascular disease in normoalbuminuric type 1 diabetic patients

    DEFF Research Database (Denmark)

    Mogensen, Ulrik Madvig; Jensen, Tonny; Køber, Lars

    2012-01-01

    -six normoalbuminuric, type 1 diabetic patients were divided into 26 with (+) and 30 without (-) CAN according to tests of their autonomic nerve function. Coronary artery plaque burden and coronary artery calcium score (CACS) were evaluated using computed tomography. Left ventricular function was evaluated using...

  15. Evaluation of pre-existing neuropathy and bortezomib retreatment as risk factors to develop severe neuropathy in a mouse model.

    Science.gov (United States)

    Bruna, Jordi; Alé, Albert; Velasco, Roser; Jaramillo, Jessica; Navarro, Xavier; Udina, Esther

    2011-09-01

    Pre-existing neuropathy, a not uncommon feature in oncologic patients, is a potential but non-confirmed risk factor to develop early or severe chemotherapy-induced neuropathy. The main goal of this study is to evaluate the role of pre-existing neuropathy induced by vincristine (VNC) or bortezomib (BTZ) as a risk factor to develop more severe BTZ-induced neuropathy in a mouse model. VNC, at doses of 1 and 1.5 mg/kg given twice per week for 4 weeks, induced a moderate and severe sensory-motor neuropathy, primarily axonal, with predominant involvement of myelinated sensory axons. The neuropathy induced by BTZ at dose of 1 mg/kg given twice per week for 6 weeks was a mild axonal sensory neuropathy involving myelinated and unmyelinated fibers. The neuropathy in mice previously treated and retreated with the same schedule of BTZ after 4 weeks of washout period was similar in profile and severity to the one observed after the first treatment. When basal neuropathy was classified as moderate (most of BTZ-treated animals) or severe (all VNC-treated animals and two BTZ-treated animals), there was a more marked decline in sensory nerve function during BTZ retreatment in the group with basal severe neuropathy (-86%) than in the groups with basal mild (-57%) or without neuropathy (-52%; p < 0.001). Histopathological findings supported the functional results. Therefore, this study shows that the presence of a severe neuropathy previous to treatment with an antitumoral agent, such as BTZ, results in a more marked involvement of peripheral nerves. © 2011 Peripheral Nerve Society.

  16. A Novel Small Molecule GDNF Receptor RET Agonist, BT13, Promotes Neurite Growth from Sensory Neurons in Vitro and Attenuates Experimental Neuropathy in the Rat

    Directory of Open Access Journals (Sweden)

    Yulia A. Sidorova

    2017-06-01

    Full Text Available Neuropathic pain caused by nerve damage is a common and severe class of chronic pain. Disease-modifying clinical therapies are needed as current treatments typically provide only symptomatic relief; show varying clinical efficacy; and most have significant adverse effects. One approach is targeting either neurotrophic factors or their receptors that normalize sensory neuron function and stimulate regeneration after nerve damage. Two candidate targets are glial cell line-derived neurotrophic factor (GDNF and artemin (ARTN, as these GDNF family ligands (GFLs show efficacy in animal models of neuropathic pain (Boucher et al., 2000; Gardell et al., 2003; Wang et al., 2008, 2014. As these protein ligands have poor drug-like properties and are expensive to produce for clinical use, we screened 18,400 drug-like compounds to develop small molecules that act similarly to GFLs (GDNF mimetics. This screening identified BT13 as a compound that selectively targeted GFL receptor RET to activate downstream signaling cascades. BT13 was similar to NGF and ARTN in selectively promoting neurite outgrowth from the peptidergic class of adult sensory neurons in culture, but was opposite to ARTN in causing neurite elongation without affecting initiation. When administered after spinal nerve ligation in a rat model of neuropathic pain, 20 and 25 mg/kg of BT13 decreased mechanical hypersensitivity and normalized expression of sensory neuron markers in dorsal root ganglia. In control rats, BT13 had no effect on baseline mechanical or thermal sensitivity, motor coordination, or weight gain. Thus, small molecule BT13 selectively activates RET and offers opportunities for developing novel disease-modifying medications to treat neuropathic pain.

  17. A Novel Small Molecule GDNF Receptor RET Agonist, BT13, Promotes Neurite Growth from Sensory Neuronsin Vitroand Attenuates Experimental Neuropathy in the Rat.

    Science.gov (United States)

    Sidorova, Yulia A; Bespalov, Maxim M; Wong, Agnes W; Kambur, Oleg; Jokinen, Viljami; Lilius, Tuomas O; Suleymanova, Ilida; Karelson, Gunnar; Rauhala, Pekka V; Karelson, Mati; Osborne, Peregrine B; Keast, Janet R; Kalso, Eija A; Saarma, Mart

    2017-01-01

    Neuropathic pain caused by nerve damage is a common and severe class of chronic pain. Disease-modifying clinical therapies are needed as current treatments typically provide only symptomatic relief; show varying clinical efficacy; and most have significant adverse effects. One approach is targeting either neurotrophic factors or their receptors that normalize sensory neuron function and stimulate regeneration after nerve damage. Two candidate targets are glial cell line-derived neurotrophic factor (GDNF) and artemin (ARTN), as these GDNF family ligands (GFLs) show efficacy in animal models of neuropathic pain (Boucher et al., 2000; Gardell et al., 2003; Wang et al., 2008, 2014). As these protein ligands have poor drug-like properties and are expensive to produce for clinical use, we screened 18,400 drug-like compounds to develop small molecules that act similarly to GFLs (GDNF mimetics). This screening identified BT13 as a compound that selectively targeted GFL receptor RET to activate downstream signaling cascades. BT13 was similar to NGF and ARTN in selectively promoting neurite outgrowth from the peptidergic class of adult sensory neurons in culture, but was opposite to ARTN in causing neurite elongation without affecting initiation. When administered after spinal nerve ligation in a rat model of neuropathic pain, 20 and 25 mg/kg of BT13 decreased mechanical hypersensitivity and normalized expression of sensory neuron markers in dorsal root ganglia. In control rats, BT13 had no effect on baseline mechanical or thermal sensitivity, motor coordination, or weight gain. Thus, small molecule BT13 selectively activates RET and offers opportunities for developing novel disease-modifying medications to treat neuropathic pain.

  18. Penicillamin-induced neuropathy in rheumatoid arthritis

    DEFF Research Database (Denmark)

    Pedersen, P B; Hogenhaven, H

    1990-01-01

    A case of penicillamin-induced severe polyradiculopathy in rheumatoid arthritis is presented. The neuropathy was of demyelinating type, purely motor, proximal and clinically fully reversible when the drug ceased. In case of a progressive neuropathy, during penicillamin treatment, this adverse eff...... effect should be born in mind, and discontinuation of the drug considered.......A case of penicillamin-induced severe polyradiculopathy in rheumatoid arthritis is presented. The neuropathy was of demyelinating type, purely motor, proximal and clinically fully reversible when the drug ceased. In case of a progressive neuropathy, during penicillamin treatment, this adverse...

  19. Is reflex sympathetic dystrophy/complex regional pain syndrome type I a small-fiber neuropathy?

    Science.gov (United States)

    Oaklander, Anne Louise; Fields, Howard L

    2009-06-01

    Neurologist S. Weir Mitchell first described "causalgia" following wartime nerve injury, with its persistent distal limb burning pain, swelling, and abnormal skin color, temperature, and sweating. Similar post-traumatic symptoms were later identified in patients without overt nerve injuries after trauma. This was labeled reflex sympathetic dystrophy (RSD; now complex regional pain syndrome type I [CRPS-I]). The pathophysiology of symptoms is unknown and treatment options are limited. We propose that persistent RSD/CRPS-I is a post-traumatic neuralgia associated with distal degeneration of small-diameter peripheral axons. Small-fiber lesions are easily missed on examination and are undetected by standard electrophysiological testing. Most CRPS features-spreading pain and skin hypersensitivity, vasomotor instability, osteopenia, edema, and abnormal sweating-are explicable by small-fiber dysfunction. Small fibers sense pain and temperature but also regulate tissue function through neuroeffector actions. Indeed, small-fiber-predominant polyneuropathies cause CRPS-like abnormalities, and pathological studies of nerves from chronic CRPS-I patients confirm small-fiber-predominant pathology. Small distal nerve injuries in rodents reproduce many CRPS features, further supporting this hypothesis. CRPS symptoms likely reflect combined effects of axonal degeneration and plasticity, inappropriate firing and neurosecretion by residual axons, and denervation supersensitivity. The resulting tissue edema, hypoxia, and secondary central nervous system changes can exacerbate symptoms and perpetuate pathology. Restoring the interest of neurologists in RSD/CRPS should improve patient care and broaden our knowledge of small-fiber functions.

  20. Detection of cardiovascular autonomic neuropathy using exercise testing in patients with type 2 diabetes mellitus.

    Science.gov (United States)

    Banthia, Smriti; Bergner, Daniel W; Chicos, Alexandru B; Ng, Jason; Pelchovitz, Daniel J; Subacius, Haris; Kadish, Alan H; Goldberger, Jeffrey J

    2013-01-01

    This study investigated autonomic nervous system function in subjects with diabetes during exercise and recovery. Eighteen type 2 diabetics (age 55±2 years) and twenty healthy controls (age 51±1 years) underwent two 16-min bicycle submaximal ECG stress tests followed by 45 min of recovery. During session #2, atropine (0.04 mg/kg) was administered at peak exercise, and the final two minutes of exercise and entire recovery occurred under parasympathetic blockade. Plasma catecholamines were measured throughout. Parasympathetic effect was defined as the difference between a measured parameter at baseline and after parasympathetic blockade. The parasympathetic effect on the RR interval was blunted (P=.004) in diabetic subjects during recovery. Parasympathetic effect on QT-RR slope during early recovery was diminished in the diabetes group (diabetes 0.13±0.02, control 0.21±0.02, P=.03). Subjects with diabetes had a lower heart rate recovery at 1 min (diabetes 18.5±1.9 bpm, control 27.6±1.5 bpm, Pdiabetes, even with minimal evidence of CAN using current methodology, altered cardiac autonomic balance is present and can be detected through an exercise-based assessment for CAN. The early post-exercise recovery period in diabetes was characterized by enhanced sympathoexcitation, diminished parasympathetic reactivation and delay in heart rate recovery. Copyright © 2013 Elsevier Inc. All rights reserved.

  1. The effect of peripheral neuropathy on lower limb muscle strength in diabetic individuals.

    Science.gov (United States)

    Ferreira, Jean P; Sartor, Cristina D; Leal, Ângela M O; Sacco, Isabel C N; Sato, Tatiana O; Ribeiro, Ivana L; Soares, Alice S; Cunha, Jonathan E; Salvini, Tania F

    2017-03-01

    Skeletal muscle strength is poorly described and understood in diabetic participants with diabetic peripheral neuropathy. This study aimed to investigate the extensor and flexor torque of the knee and ankle during concentric, eccentric, and isometric contractions in men with diabetes mellitus type 2 with and without diabetic peripheral neuropathy. Three groups of adult men (n=92), similar in age, body mass index, and testosterone levels, were analyzed: 33 non-diabetic controls, 31 with type 2 diabetes mellitus, and 28 with diabetic peripheral neuropathy. The peak torques in the concentric, eccentric, and isometric contractions were evaluated using an isokinetic dynamometer during knee and ankle flexion and extension. Individuals with diabetes and diabetic peripheral neuropathy presented similar low concentric and isometric knee and ankle torques that were also lower than the controls. However, the eccentric torque was similar among the groups, the contractions, and the joints. Regardless of the presence of peripheral neuropathy, differences in skeletal muscle function were found. The muscle involvement does not follow the same pattern of sensorial losses, since there are no distal-to-proximal impairments. Both knee and ankle were affected, but the effect sizes of the concentric and isometric torques were found to be greater in the participants' knees than in their ankles. The eccentric function did not reveal differences between the healthy control group and the two diabetic groups, raising questions about the involvement of the passive muscle components. Copyright © 2017 Elsevier Ltd. All rights reserved.

  2. Chemical and sensory attributes of soy-corn milk types | OMUETI ...

    African Journals Online (AJOL)

    The three milk types were analyzed for their total solid, total acidity, total carotenoids, relative density and protein content. Changes in the apparent colloidal stability, pH and sensory scores were monitored for 72 h under storage at room temperature (30۫°C), in refrigerator (6۬°C) and freezer (–4۫°C). There were significant ...

  3. Delayed radiation neuropathy

    International Nuclear Information System (INIS)

    Nagashima, Toshiko; Miyamoto, Kazuto; Beppu, Hirokuni; Hirose, Kazuhiko; Yamada, Katsuhiro

    1981-01-01

    A case of cervical plexus neuropathy was reported in association with chronic radio-dermatitis, myxedema with thyroid adenoma and epiglottic tumor. A 38-year-old man has noticed muscle weakness and wasting of the right shoulder girdle since age 33. A detailed history taking revealed a previous irradiation to the neck because of the cervical lymphadenopathy at age 10 (X-ray 3,000 rads), keroid skin change at age 19, obesity and edema since 26, and hoarseness at 34. Laryngoscopic examination revealed a tumor on the right vocal cord, diagnosed as benign papilloma by histological study. In addition, there were chronic radio-dermatitis around the neck, primary hypothyroidism with a benign functioning adenoma on the right lobe of the thyroid, the right phrenic nerve palsy and the right recurrent nerve palsy. All these lesions were considered to be the late sequellae of radiation to the neck in childhood. Other neurological signs were weakness and amyotrophy of the right shoulder girdle with patchy sensory loss, and areflexia of the right arm. Gross power was fairly well preserved in the right hand. EMG showed neurogenic changes in the tested muscles, suggesting a peripheral nerve lesion. Nerve conduction velocities were normal. No abnormal findings were revealed by myelography and spinal CT. The neurological findings of the patient were compatible with the diagnosis of middle cervical plexus palsy apparently due to late radiation effect. In the literature eight cases of post-radiation neuropathy with a long latency have been reported. The present case with the longest latency after the radiation should be included in the series of the reported cases of ''delayed radiation neuropathy.'' (author)

  4. Delayed radiation neuropathy

    Energy Technology Data Exchange (ETDEWEB)

    Nagashima, T.; Miyamoto, K.; Beppu, H.; Hirose, K.; Yamada, K. (Tokyo Metropolitan Neurological Hospital (Japan))

    1981-07-01

    A case of cervical plexus neuropathy was reported in association with chronic radio-dermatitis, myxedema with thyroid adenoma and epiglottic tumor. A 38-year-old man has noticed muscle weakness and wasting of the right shoulder girdle since age 33. A detailed history taking revealed a previous irradiation to the neck because of the cervical lymphadenopathy at age 10 (X-ray 3,000 rads), keroid skin change at age 19, obesity and edema since 26, and hoarseness at 34. Laryngoscopic examination revealed a tumor on the right vocal cord, diagnosed as benign papilloma by histological study. In addition, there were chronic radio-dermatitis around the neck, primary hypothyroidism with a benign functioning adenoma on the right lobe of the thyroid, the right phrenic nerve palsy and the right recurrent nerve palsy. All these lesions were considered to be the late sequellae of radiation to the neck in childhood. Other neurological signs were weakness and amyotrophy of the right shoulder girdle with patchy sensory loss, and areflexia of the right arm. Gross power was fairly well preserved in the right hand. EMG showed neurogenic changes in the tested muscles, suggesting a peripheral nerve lesion. Nerve conduction velocities were normal. No abnormal findings were revealed by myelography and spinal CT. The neurological findings of the patient were compatible with the diagnosis of middle cervical plexus palsy apparently due to late radiation effect. In the literature eight cases of post-radiation neuropathy with a long latency have been reported. The present case with the longest latency after the radiation should be included in the series of the reported cases of ''delayed radiation neuropathy.'' (author).

  5. New Generation Antidepressants in Painful Diabetic Neuropathy

    OpenAIRE

    Gutiérrez-Álvarez, Ángela-María; Moreno, Carlos B

    2011-01-01

    The incidence of diabetic neuropathy increases with the duration of diabetes and the degree of hyperglycaemia. Pain is one of the most common and incapacitating symptoms of diabetic neuropathy and its pharmacological control is complex. The effectiveness of antidepressive agents has been described in different types of neuropathic pain, but their effectiveness, when used as analgesics in painful diabetic neuropathy, still remains controversial. Objective: To review the possible role of new-ge...

  6. Avaliação das perdas sensório-motoras do pé e tornozelo decorrentes da neuropatia diabética Assessment of motor sensory losses in the foot and ankle due to diabetic neuropathy

    Directory of Open Access Journals (Sweden)

    ICN Sacco

    2007-02-01

    Full Text Available OBJETIVOS: Identificar déficits sensório-motores de pés de pacientes diabéticos neuropatas e comparar os déficits do grupo neuropata com um grupo de sujeitos saudáveis. MÉTODO: 49 diabéticos neuropatas (GD e 22 controles foram submetidos a um protocolo de três estágios: (1 entrevista por meio de questionário, que caracterizou a neuropatia e sintomas, (2 avaliação da função muscular, amplitude de movimentos e testes funcionais dos pés e tornozelos, (3 avaliação da sensibilidade tátil e térmica. Os grupos foram comparados por meio dos testes Qui-quadrado, Mann-Withney e Teste T (pOBJECTIVE: To identify motor sensory deficits in the feet of neuropathic diabetic patients and compare their deficits with a group of healthy subjects. METHOD: 49 neuropathic diabetics (group NG and 22 controls (group CG underwent a three-stage protocol: (1 an interview using a questionnaire to characterize the neuropathy and symptoms; (2 assessment of muscle function and range of motion, and functional tests on the feet and ankles; (3 assessment of tactile and thermal sensitivity. The groups were compared using the chi-squared, Mann-Whitney and Student t tests (p<0.05. RESULTS: NG presented significant losses of tactile and thermal sensitivity in comparison with CG, especially in the heels (49.0% of NG and 97.3% of CG. Muscle function was decreased in NG, with predominance of loss of grade 5. The muscles most affected were the interossei (23.4%, extensor hallucis (42.5% and triceps surae (43.2%, while all muscle function was preserved in CG. All ranges of motion in NG were reduced in comparison with CG. The functional tests on the ankles in NG presented a decrease of around 50%. CONCLUSION: There were significant differences between the groups with regard to sensitivity, muscle function, range of motion and functional losses. These differences can be attributed to the diabetic neuropathy.

  7. Vasculitic peripheral neuropathy

    Directory of Open Access Journals (Sweden)

    Mona Amini

    2014-02-01

    Full Text Available Primary systemic vasculitis in pre-capillary arteries is associated with peripheral neuropathy. In some types of systematic vasculitis about 60 % of patients have peripheral nervous system (PNS involvement. In vasculitic peripheral neuropathies (VPN a necrotizing and inflammatory process leads to narrowing of vasa nervorum lumen and eventually the appearance of ischemic lesions in peripheral nerves. Some features might be suggestive of VPN, like: axonal nerve degeneration, wallerian-like degeneration, and diameter irregularity of nerve. Peripheral nervous system (PNS destruction during systemic vasculitides should be considered, due to its frequency and early occurrence in vasculitis progression. The first line treatment of non systematic VPNs is corticosteroid agents, but these drugs might worsen the VPNs or systemic vasculitis.

  8. ANTIOXIDANT STATUS IN DIABETIC NEUROPATHY

    Directory of Open Access Journals (Sweden)

    Giriraja Vrushabaiah Kanakapura

    2017-09-01

    Full Text Available BACKGROUND Diabetic neuropathy, retinopathy and nephropathy are the chronic complications of diabetes mellitus. Neuropathy, retinopathy and nephropathy are microvascular complication of diabetes mellitus. Antioxidant status is reduced in DM-induced retinopathy and nephropathy. Present study is undertaken to evaluate the degree of oxidative stress in diabetic neuropathy patients. The aim of the study is to study on oxidative stress as measured by lipid peroxidation marker, malondialdehyde and antienzyme status in type II DM patients with neuropathy and compared them with a controlled nondiabetic group. MATERIALS AND METHODS The study included 100 subjects from Sapthagiri Medical College, Bangalore, from January 1, 2015, to December 31, 2015, of age group 50 to 70 yrs. out of which 50 patients were non-insulin-dependent DM with neuropathy and rest 50 age and sex matched apparently healthy individuals (control group. Antioxidant status was assessed by measuring superoxide dismutase (SOD, glutathione peroxidase (GPx, glutathione reductase (GR, Catalase and Reduced Glutathione (GSH. RESULTS It showed a significant increase p<0.001 in FBS, PPBS, TC, TG, LDL, VLDL, CAT, MDA, while HDL, GSH, GPX, GR and SOD were found to be decreased significantly (p 0.001. CONCLUSION MDA was significantly elevated in diabetic group, whereas antioxidant enzymes superoxide dismutase, glutathione peroxidase, glutathione reductase and reduced glutathione were significantly decreased, which might be helpful in risk assessment of various complications of DM. The data suggests that alteration in antioxidant status and MDA may help to predict the risk of diabetic neuropathy.

  9. Diagnostic utility of corneal confocal microscopy and intra-epidermal nerve fibre density in diabetic neuropathy.

    Directory of Open Access Journals (Sweden)

    Uazman Alam

    Full Text Available Corneal confocal microscopy (CCM is a rapid, non-invasive, reproducible technique that quantifies small nerve fibres. We have compared the diagnostic capability of CCM against a range of established measures of nerve damage in patients with diabetic neuropathy.In this cross sectional study, thirty subjects with Type 1 diabetes without neuropathy (T1DM, thirty one T1DM subjects with neuropathy (DSPN and twenty seven non-diabetic healthy control subjects underwent detailed assessment of neuropathic symptoms and neurologic deficits, quantitative sensory testing (QST, electrophysiology, skin biopsy and corneal confocal microscopy (CCM.Subjects with DSPN were older (C vs T1DM vs DSPN: 41.0±14.9 vs 38.8±12.5 vs 53.3±11.9, P = 0.0002, had a longer duration of diabetes (P<0.0001, lower eGFR (P = 0.006 and higher albumin-creatinine ratio (P = 0.03 with no significant difference for HbA1c, BMI, lipids and blood pressure. Patients with DSPN were representative of subjects with diabetic neuropathy with clinical signs and symptoms of neuropathy and greater neuropathy deficits quantified by QST, electrophysiology, intra-epidermal nerve fibre density and CCM. Corneal nerve fibre density (CNFD (Spearman's Rho = 0.60 P<0.0001 and IENFD (Spearman's Rho = 0.56 P<0.0001 were comparable when correlated with peroneal nerve conduction velocity. For the diagnosis of diabetic neuropathy the sensitivity for CNFD was 0.77 and specificity was 0.79 with an area under the ROC curve of 0.81. IENFD had a diagnostic sensitivity of 0.61, specificity of 0.80 and area under the ROC curve of 0.73.CCM is a valid accurate non-invasive method to identify small nerve fibre pathology and is able to diagnose DPN.

  10. Electrophysiological characterization of spinal neurons in different models of diabetes type 1- and type 2-induced neuropathy in rats.

    Science.gov (United States)

    Schuelert, N; Gorodetskaya, N; Just, S; Doods, H; Corradini, L

    2015-04-16

    Diabetic polyneuropathy (DPN) is a devastating complication of diabetes. The underlying pathogenesis of DPN is still elusive and an effective treatment devoid of side effects presents a challenge. There is evidence that in type-1 and -2 diabetes, metabolic and morphological changes lead to peripheral nerve damage and altered central nociceptive transmission, which may contribute to neuropathic pain symptoms. We characterized the electrophysiological response properties of spinal wide dynamic range (WDR) neurons in three diabetic models. The streptozotocin (STZ) model was used as a drug-induced model of type-1 diabetes, and the BioBreeding/Worcester (BB/Wor) and Zucker diabetic fatty (ZDF) rat models were used for genetic DPN models. Data were compared to the respective control group (BB/Wor diabetic-resistant, Zucker lean (ZL) and saline-injected Wistar rat). Response properties of WDR neurons to mechanical stimulation and spontaneous activity were assessed. We found abnormal response properties of spinal WDR neurons in all diabetic rats but not controls. Profound differences between models were observed. In BB/Wor diabetic rats evoked responses were increased, while in ZDF rats spontaneous activity was increased and in STZ rats mainly after discharges were increased. The abnormal response properties of neurons might indicate differential pathological, diabetes-induced, changes in spinal neuronal transmission. This study shows for the first time that specific electrophysiological response properties are characteristic for certain models of DPN and that these might reflect the diverse and complex symptomatology of DPN in the clinic. Copyright © 2015 IBRO. Published by Elsevier Ltd. All rights reserved.

  11. Hereditary motor and sensory neuropathy with congenital glaucoma: report on a family Neuropatia hereditária sensitivo-motora com glaucoma congênito: descrição de uma família

    Directory of Open Access Journals (Sweden)

    WALTER O. ARRUDA

    1999-06-01

    Full Text Available We report three siblings of a family with hereditary motor and sensory polyneuropathy (HMSN and buphthalmos. Electrophysiological studies showed a demyelinating neuropathy and pathological findings showed severe loss of myelinated fibers (MF, thin myelin sheaths and myelin infoldings in a few remaining MF. The presumed mode of inheritance is autosomal recessive. This family probably represents an unique form of CMT4 that may be related to one of the congenital glaucoma genic locus, particularly GLC3A and GLC3B, described in Turkish families.Descrevemos três membros afetados de uma família com neuropatia hereditária sensitivo-motora tipo I (desmielinizante e glaucoma congênito (buftalmia. O estudo eletrofisiológico dos membros afetados demonstrou polineuropatia sensitivo-motora desmielinizante, com ausência ou redução acentuada das velocidades de neurocondução sensitiva e motora. A biópsia do nervo sural revelou redução moderada a grave das fibras mielinizadas, bainhas de mielina de espessura diminuída (remielinização com dobramentos delas nas poucas fibras mielinizadas remanescentes. Não foram observadas formações em casca de cebola, nem tampouco alterações hipertróficas. O padrão de herança desta família parece ser autossômico recessivo. Sugerimos tratar-se de uma forma singular de doença de Charcot-Marie-Tooth autossômica recessiva (CMT4, que eventualmente pode possuir locus gênico próximo a um dos locus do glaucoma congênito (GLC3A e GLC3B, localizados nos cromossomos 2p21 e 1p36.

  12. Penicillamin-induced neuropathy in rheumatoid arthritis

    DEFF Research Database (Denmark)

    Pedersen, P B; Hogenhaven, H

    1990-01-01

    A case of penicillamin-induced severe polyradiculopathy in rheumatoid arthritis is presented. The neuropathy was of demyelinating type, purely motor, proximal and clinically fully reversible when the drug ceased. In case of a progressive neuropathy, during penicillamin treatment, this adverse...

  13. N-hexane neuropathy in screen printers.

    Science.gov (United States)

    Puri, V; Chaudhry, N; Tatke, M

    2007-01-01

    To study the clinical and electrophysiological profile of n-hexane neuropathy in a tertiary care center of India. Twenty five screen printers from five different factories, with peripheral neuropathy were included in the study. A detailed general physical, systemic and neurological examination was conducted Visual acuity, color vision and field charting was done in all the subjects. All patients were subjected to Folstein mini mental scale examination. Electrophysiological evaluation included motor and sensory conduction studies of the conventionally studied nerves of upper and lower limbs, Needle EMG of various distal and proximal muscles and patterned visual evoked responses. The electrophysiological profile was repeated every three months till one year. Sural nerve biopsy was studied in six patients. The patients were followed for a maximum of 4 years. Twenty three [92%] patients had sensory- motor neuropathy, while pure sensory neuropathy was seen in two. The sensory conductions were affected almost equally in upper as well as the lower limbs, while the motor conductions were affected more in the lower limbs than the upper limbs. The sensory conductions were not recordable in both the upper and the lower limbs in 18 [72%] patients. Motor conduction studies revealed an asymmetric and patchy involvement. Proximal conduction block was seen in 3 patients [12%]. On needle EMG features of denervation were seen in all patients. P100 latency was normal in all. Sural nerve biopsy showed a selective decrease in large myelinated axons with demyelination. Axonal swelling with focal areas of demyelination was observed in two patients. The electrophysiological patterns as well as the histopathology reflect the pathophysiology of n-hexane neuropathy.

  14. Chemical and sensory characteristics of the sparkling and natural ciders stored in different types of containers

    OpenAIRE

    Plotkoski, Derek; Aleixandre Tudo, José; Aleixandre Benavent, José Luís

    2016-01-01

    [EN] The cider industry is becoming more prolific in many parts of the world, and with the growing demand for cider comes a growing demand for high-quality ciders from traditional cider-growing regions. The main goal of the project was to study the chemical and sensory characteristics of the sparkling and natural ciders stored in different types of containers after three month of preservation at 23¿C in the temperature controlled storage room. Sparkling is a sweet, carbonated cide...

  15. Japanese neuropathy patients with peripheral myelin protein-22 gene aneuploidy

    Energy Technology Data Exchange (ETDEWEB)

    Lebo, R.V.; Li, L.Y.; Flandermeyer, R.R. [Univ. of California, San Francisco, CA (United States)] [and others

    1994-09-01

    Peripheral myelin protein (PMP-22) gene aneuploidy results in Charcot-Marie-Tooth disease Type 1A (CMT1A) and the Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) in Japanese patients as well as Caucasian Americans. Charcot-Marie-Tooth disease (CMT), the most common genetic neuropathy, results when expression of one of at least seven genes is defective. CMT1A, about half of all CMT mutations, is usually associated with a duplication spanning the peripheral myelin protein-22 gene on distal chromosome band 17p11.2. Autosomal dominant HNPP (hereditary pressure and sensory neuropathy, HPSN) results from a deletion of the CMT1A gene region. Multicolor in situ hybridization with PMP-22 gene region probe characterized HNPP deletion reliably and detected all different size duplications reported previously. In summary, 72% of 28 Japanese CMT1 (HMSNI) patients tested had the CMT1A duplication, while none of the CMT2 (HMSNII) or CMT3 (HMSNIII) patients had a duplication. Three cases of HNPP were identified by deletion of the CMT1A gene region on chromosome 17p. HNPP and CMT1A have been reported to result simultaneously from the same unequal recombination event. The lower frequency of HNPP compared to CMT1A suggests that HNPP patients have a lower reproductive fitness than CMT1A patients. This result, along with a CMT1A duplication found in an Asian Indian family, demonstrates the broad geographic distribution and high frequency of PMP-22 gene aneuploidy.

  16. Association of peripheral neuropathy with sleep-related breathing disorders in myotonic dystrophies

    Directory of Open Access Journals (Sweden)

    Banach M

    2017-01-01

    Full Text Available Marta Banach,1,* Jakub Antczak,1,* Rafał Rola21Department of Clinical Neurophysiology, 2First Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland *These authors contributed equally to this workBackground: Myotonic dystrophy (DM type 1 and type 2 are inherited diseases characterized by myotonia and myopathy. Additional symptoms include, among others, peripheral neuropathy and sleep-related breathing disorders (SRBDs. There is growing evidence for a complex association between DM1 and DM2, which was described in patients with diabetes mellitus and in the general population. In this study, we investigated whether there is an association between peripheral neuropathy and SRBDs also in the population of patients with DM.Methods: The study included 16 patients with DM1 (mean age, 37.9±14.1 years; 20–69 years and eight patients with DM2 (mean age, 47.6±14.1 years; 20–65 years, who underwent a sensory and motor nerve conduction study (NCS and diagnostic screening for SRBDs. In both groups, the NCS parameters were correlated with respiratory parameters.Results: In both groups, the amplitude of the ulnar sensory nerve action potential (SNAP correlated with the mean arterial oxygen saturation (SaO2. In addition, in the DM2 group, the median SNAP correlated with the mean SaO2. In the DM1 group, the median SNAP and the distal motor latency (DML of the ulnar nerve correlated with the apnea–hypopnea index, while the oxygen desaturation index correlated with the DML of the tibial nerve and with conduction velocity in the sural nerve.Conclusion: Our results indicate a complex association between neuropathy and SRBDs in DM1 and DM2. Axonal degeneration may contribute to nocturnal hypoxemia and vice versa. Neuropathy may contribute to muscle weakness, which in turn may cause respiratory events.Keywords: myotonic dystrophy, SRBD and neuropathy with AHI, SNAP, CMAP

  17. MR imaging of trigeminal neuropathy

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Si Yeon; Yoon, Pyeong Ho; Chung, Jin Il; Lee, Seung Ik; Kim, Dong Ik [Yonsei Univ. College of Medicine, Seoul (Korea, Republic of)

    2001-03-01

    The trigeminal nerve is the largest of the cranial nerves and has both sensory and motor functions. It can be divided into proximal (brainstem, preganglionic, gasserian ganglion, and cavernous sinus) and distal (extracranial opthalmic, maxillary, and mandibular) segments. Patients with trigeminal neuropathy present with a wide variety of symptoms, and lesions producing those symptoms may occur anywhere along the protracted course of the trigeminal nerve, from its distal facial branches to its nuclear columns in the brainstem. The purpose of this article is to illustrate the normal anatomy of the trigeminal nerve and associated various pathologic conditions. These are arranged anatomically according to their site of interaction with it.

  18. Influence of the presence and type of fragrance on the sensory perception of cosmetic formulations

    Directory of Open Access Journals (Sweden)

    Gisele Mara Silva Gonçalves

    2013-04-01

    Full Text Available The aim of the present study was to evaluate the sensory assessments of identical cosmetic formulations with and without fragrance to investigate not only the acceptance but also how different fragrances affected their attributes, such as skin feel, tackiness and spreadability. Three gel and three cream formulations with and without two types of fragrance, fennel and sweet flowers, were assessed for various attributes. The presence and type of fragrance used affected the testers' perception of some attributes, showing that the influence of this component should not be disregarded. Apparently, a consumer's reaction to a cosmetic product is not only based on its efficacy but also on how its attributes are perceived, such as appearance, skin feel and smell.

  19. Prevalence of Neuropathy and Peripheral Arterial Disease and the Impact of Treatment in People With Screen-Detected Type 2 Diabetes: The ADDITION-Denmark study

    DEFF Research Database (Denmark)

    Charles, Morten; Ejskjær, Niels; Witte, Daniel R

    2011-01-01

    OBJECTIVE-There is limited evidence on how intensive multi factorial treatment (IT) improves outcomes of diabetes when initiated in the lead time between detection by screening and diagnosis in routine clinical practice. We examined the effects of early detection and IT of type 2 diabetes...... in primary care on the prevalence of diabetic peripheral neuropathy (DPN) and peripheral arterial disease (PAD) 6 years later in a pragmatic, cluster-randomized parallel group trial. RESEARCH DESIGN AND METHODS-A stepwise screening program in 1.90 general practices in Denmark was used to identify 1......,533 people with type 2 diabetes. General practices were randomized to deliver either IT or routine care (RC) as recommended through national guidelines. Participants were followed for 6 years and measures of DPN and PAD were applied. RESULTS-We found no statistically significant effect of lion the prevalence...

  20. Nocturnal antihypertensive treatment in patients with type 1 diabetes with autonomic neuropathy and non-dipping of blood pressure during night time

    DEFF Research Database (Denmark)

    Hjortkær, Henrik; Jensen, Tonny; Kofoed, Klaus

    2014-01-01

    demonstrated. The present protocol describes a trial to test the efficacy of bedtime dosing of the ACE inhibitor enalapril on night time blood pressure and left ventricular mass in patients with type 1 diabetes. MATERIALS AND METHODS: In a randomised, double-blind, two-way cross-over study, 24 normoalbuminuric...... patients with type 1 diabetes with CAN will be treated for 12 weeks with either morning or bedtime dosing of 20 mg enalapril, followed by 12 weeks of switched treatment regimen. During each treatment period, two 24 h ambulatory blood pressure measurements will be performed and after each treatment period......INTRODUCTION: Cardiac autonomic neuropathy (CAN) and elevated nocturnal blood pressure are independent risk factors for cardiovascular disease in patients with diabetes. Previously, associations between CAN, non-dipping of nocturnal blood pressure and coronary artery calcification have been...

  1. Pharmacogenetic Discovery in CALGB (Alliance) 90401 and Mechanistic Validation of a VAC14 Polymorphism That Increases Risk of Docetaxel-Induced Neuropathy

    Science.gov (United States)

    Hertz, Daniel L.; Owzar, Kouros; Lessans, Sherrie; Wing, Claudia; Jiang, Chen; Kelly, William Kevin; Patel, Jai; Halabi, Susan; Furukawa, Yoichi; Wheeler, Heather E.; Sibley, Alexander B.; Lassiter, Cameron; Weisman, Lois; Watson, Dorothy; Krens, Stefanie D.; Mulkey, Flora; Renn, Cynthia L.; Small, Eric J.; Febbo, Phillip G.; Shterev, Ivo; Kroetz, Deanna L.; Friedman, Paula N.; Mahoney, John F.; Carducci, Michael A.; Kelley, Michael J; Nakamura, Yusuke; Kubo, Michiaki; Dorsey, Susan G.; Dolan, M. Eileen; Morris, Michael J.; Ratain, Mark J.; McLeod, Howard L.

    2016-01-01

    Purpose Discovery of single nucleotide polymorphisms (SNPs) that predict a patient's risk of docetaxel-induced neuropathy would enable treatment individualization to maximize efficacy and avoid unnecessary toxicity. The objectives of this analysis were to discover SNPs associated with docetaxel-induced neuropathy and mechanistically validate these associations in preclinical models of drug-induced neuropathy. Experimental Design A genome-wide association study was conducted in metastatic castrate-resistant prostate cancer patients treated with docetaxel, prednisone and randomized to bevacizumab or placebo on CALGB 90401. SNPs were genotyped on the Illumina HumanHap610-Quad platform followed by rigorous quality control. The inference was conducted on the cumulative dose at occurrence of grade 3+ sensory neuropathy using a cause-specific hazard model that accounted for early treatment discontinuation. Genes with SNPs significantly associated with neuropathy were knocked down in cellular and mouse models of drug-induced neuropathy. Results 498,081 SNPs were analyzed in 623 Caucasian patients, 50 (8%) of whom experienced grade 3+ neuropathy. The 1000 SNPs most associated with neuropathy clustered in relevant pathways including neuropathic pain and axonal guidance. A SNP in VAC14 (rs875858) surpassed genome-wide significance (p=2.12×10-8 adjusted p=5.88×10-7). siRNA knockdown of VAC14 in stem cell derived peripheral neuronal cells increased docetaxel sensitivity as measured by decreased neurite processes (p=0.0015) and branches (p<0.0001). Prior to docetaxel treatment VAC14 heterozygous mice had greater nociceptive sensitivity than wild-type litter mate controls (p=0.001). Conclusions VAC14 should be prioritized for further validation of its potential role as a predictor of docetaxel-induced neuropathy and biomarker for treatment individualization. PMID:27143689

  2. Lower Physical Activity Is Associated With Higher Intermuscular Adipose Tissue in People With Type 2 Diabetes and Peripheral Neuropathy

    Science.gov (United States)

    Sinacore, David R.; Cade, W. Todd; Mueller, Michael J.

    2011-01-01

    Background Increased lipid accumulation in skeletal muscle has been linked to insulin resistance, impaired muscle performance, and impaired physical function. It is unclear whether physical activity is associated with lipid content in skeletal muscle, muscle performance, or overall physical function. Objective The purpose of this study was to characterize physical activity levels (average daily step count) in a sample of people with diabetes and peripheral neuropathy and to determine the relationship among step count, intermuscular adipose tissue volume (IMAT), muscle performance (peak torque, power), and physical function. Design A cross-sectional design was used in this study. Methods Twenty-two people with diabetes and peripheral neuropathy (15 men and 7 women, mean age=64.5 years [SD=12.7], and mean body mass index=33.2 kg/m2 [SD=6.4]) participated. Average daily step count, glycosylated hemoglobin, modified 9-item Physical Performance Test scores, Six-Minute Walk Test distance, calf intermuscular adipose tissue volume (via magnetic resonance imaging), and isokinetic dynamometry of the ankle muscles were recorded. Results Average daily step count was 7,754 (SD=4,678; range=3,088–20,079). Five participants had an average daily step count greater than 10,000. Average IMAT volume was 84 cm3 (SD=88). Greater average daily step count was associated with younger age (r=−.39, P<.05) and with lower IMAT volume in the calf (r=−.44, P<.05). Lower IMAT volume was associated with greater muscle performance (r=−.45) and physical function (r=−.43 to −.48). Limitations The sample in this study may be biased toward people with high levels of activity because participants were recruited for an exercise study. The results should not be generalized to people taking fewer than 3,000 steps/day or to those with a current foot ulcer, peripheral arterial disease, or severe foot deformity or amputation or who weigh more than 136 kg (300 lb). Conclusions Average daily step

  3. Neuronal involvement in cisplatin neuropathy

    DEFF Research Database (Denmark)

    Krarup-Hansen, A; Helweg-Larsen, Susanne Elisabeth; Schmalbruch, H

    2007-01-01

    Although it is well known that cisplatin causes a sensory neuropathy, the primary site of involvement is not established. The clinical symptoms localized in a stocking-glove distribution may be explained by a length dependent neuronopathy or by a distal axonopathy. To study whether the whole neuron...... higher than 300 mg/m2 the patients lost distal tendon and H-reflexes and displayed reduced vibration sense in the feet and the fingers. The amplitudes of sensory nerve action potentials (SNAP) from the fingers innervated by the median nerve and the dorsolateral side of the foot innervated by the sural...... of the foot evoked by a tactile probe showed similar changes to those observed in SNAPs evoked by electrical stimulation. At these doses, somatosensory evoked potentials (SEPs) from the tibial nerve had increased latencies of peripheral, spinal and central responses suggesting loss of central processes...

  4. Neuronal involvement in cisplatin neuropathy

    DEFF Research Database (Denmark)

    Krarup-Hansen, A; Helweg-Larsen, Susanne Elisabeth; Schmalbruch, H

    2007-01-01

    Although it is well known that cisplatin causes a sensory neuropathy, the primary site of involvement is not established. The clinical symptoms localized in a stocking-glove distribution may be explained by a length dependent neuronopathy or by a distal axonopathy. To study whether the whole neuron...... nerve were 50-60% reduced, whereas no definite changes occurred at lower doses. The SNAP conduction velocities were reduced by 10-15% at cumulative doses of 400-700 mg/m2 consistent with loss of large myelinated fibres. SNAPs from primarily Pacinian corpuscles in digit 3 and the dorsolateral side...... of large dorsal root ganglion cells. Motor conduction studies, autonomic function and warm and cold temperature sensation remained unchanged at all doses of cisplatin treatment. The results of these studies are consistent with degeneration of large sensory neurons whereas there was no evidence of distal...

  5. Chronic Pain and Neuropathy Following Adjuvant Chemotherapy

    DEFF Research Database (Denmark)

    Ventzel, Lise; Madsen, Caspar S; Karlsson, Páll

    2017-01-01

    Objective: To determine symptoms and characteristics of chronic sensory neuropathy in patients treated with oxaliplatin and docetaxel, including patterns of somatosensory abnormalities, pain descriptors, and psychological functioning. Design: A retrospective cross-sectional study. Setting......: A chronic pain research center. Subjects: Thirty-eight patients with chronic peripheral pain and/or dysesthesia following chemotherapy. Methods:  Sensory profiles, psychological functioning, and quality of life were assessed using standardized questionnaires. In addition, standardized quantitative sensory...... with decreased mechanical and vibration detection thresholds. A high frequency of abnormalities in thermal sensory limen and the presence of paradoxical heat sensation seem to be sensitive markers of small fiber loss. Both groups had mainly sensory, axonal large fiber or mixed fiber polyneuropathy, which tended...

  6. Extensive sonographic ulnar nerve enlargement above the medial epicondyle is a characteristic sign in Hansen's neuropathy.

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    Lokesh Bathala

    2017-07-01

    Full Text Available Earlier studies have shown sonographic enlargement of the ulnar nerve in patients with Hansen's neuropathy. The present study was performed to determine whether sonography or electrophysiological studies can detect the specific site of ulnar nerve pathology in leprosy.Eighteen patients (thirty arms with Hansen's disease and an ulnar neuropathy of whom 66% had borderline tuberculoid (BT, 27% lepromatous leprosy (LL and 7% mid-borderline (BB leprosy were included in the study. Cross-sectional area (CSA of ulnar nerve was measured every two centimeters from wrist to medial epicondyle and from there to axilla. All patients underwent standard motor and sensory nerve conduction studies of the ulnar nerve. Thirty age and sex matched controls underwent similar ulnar nerve CSA measurements and conduction studies.Ulnar nerve was clinically palpable in 19 of the 30 arms of patients. Motor and sensory nerve conduction studies of the ulnar nerve showed a reduced compound motor action potential and sensory nerve action potential amplitude in all patients. Motor Conduction Velocity (MCV in patients were slower in comparison to controls, especially at the elbow and upper arm, but unable to exactly locate the site of the lesion. In comparison to controls the ulnar nerveCSA was larger in the whole arm in patients and quite specific the maximum enlargement was seen between nulnar sulcus and axilla, peaking at four centimeters above the sulcus.A unique sonographic pattern of nerve enlargement is noted in patients with ulnar neuropathy due to Hansen's disease, while this was not the case for the technique used until now, the electrodiagnostic testing. The enlargement starts at ulnar sulcus and is maximum four centimeters above the medial epicondyle and starts reducing further along the tract. This characteristic finding can help especially in diagnosing pure neuritic type of Hansen's disease, in which skin lesions are absent, and alsoto differentiate leprosy from

  7. A Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) in a Cohort of Charcot-Marie-Tooth Type 1A Patients.

    Science.gov (United States)

    Wang, Wenjia; Guedj, Mickaël; Bertrand, Viviane; Foucquier, Julie; Jouve, Elisabeth; Commenges, Daniel; Proust-Lima, Cécile; Murphy, Niall P; Blin, Olivier; Magy, Laurent; Cohen, Daniel; Attarian, Shahram

    2017-01-01

    The Charcot-Marie-Tooth Neuropathy Score (CMTNS) was developed as a main efficacy endpoint for application in clinical trials of Charcot-Marie-Tooth disease type 1A (CMT1A). However, the sensitivity of the CMTNS for measuring disease severity and progression in CMT1A patients has been questioned. Here, we applied a Rasch analysis in a French cohort of patients to evaluate the psychometrical properties of the CMTNS. Overall, our analysis supports the validity of the CMTNS for application to CMT1A patients though with some limitations such as certain items of the CMTNS being more suitable for moderate to severe forms of the disease, and some items being disordered. We suggest that additional items and/or categories be considered to better assess mild-to-moderate patients.

  8. A Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS in a Cohort of Charcot-Marie-Tooth Type 1A Patients.

    Directory of Open Access Journals (Sweden)

    Wenjia Wang

    Full Text Available The Charcot-Marie-Tooth Neuropathy Score (CMTNS was developed as a main efficacy endpoint for application in clinical trials of Charcot-Marie-Tooth disease type 1A (CMT1A. However, the sensitivity of the CMTNS for measuring disease severity and progression in CMT1A patients has been questioned. Here, we applied a Rasch analysis in a French cohort of patients to evaluate the psychometrical properties of the CMTNS. Overall, our analysis supports the validity of the CMTNS for application to CMT1A patients though with some limitations such as certain items of the CMTNS being more suitable for moderate to severe forms of the disease, and some items being disordered. We suggest that additional items and/or categories be considered to better assess mild-to-moderate patients.

  9. [Peripheral neuropathy during Infliximab therapy: a case study].

    Science.gov (United States)

    Zinebi, Ali; Akhouad, Youssef; Rkiouak, Adil; Reggad, Ahmed; Kasmy, Zohour; Boudlal, Mostafa; Rabhi, Monsef; Ennibi, Khalid; Chaari, Jilali

    2016-01-01

    Anti TNF alpha treatments are wide spectrum therapies. Multiple side effects have been reported in recent years, particularly peripheral neuropathies. We report a case of axonal neuropathy occurring three months after starting treatment with Infliximab. Our study focused on a 60-year old female patient treated for therapy-resistant hemorrhagic rectocolitis, requiring treatment with infliximab. Three months later, the patient had sensory axonal neuropathy. Etiologic assessment remained negative and dose reduction was accompanied by an improvement in symptoms. The time between initiation of treatment with Infliximab and the onset of clinical manifestations as well as improvement after dose reduction advocate the responsibility of infliximab in the occurrence of sensory neuropathy. Its management is not standardized and should be discussed case by case.

  10. The L1-type cell adhesion molecule Neuroglian is necessary for maintenance of sensory axon advance in the Drosophila embryo

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    Martin Veronica

    2008-04-01

    Full Text Available Abstract Background Cell adhesion molecules have long been implicated in the regulation of axon growth, but the precise cellular roles played by individual cell adhesion molecules and the molecular basis for their action are still not well understood. We have used the sensory system of the Drosophila embryo to shed light on the mechanism by which the L1-type cell adhesion molecule Neuroglian regulates axon growth. Results We have found a highly penetrant sensory axon stalling phenotype in neuroglian mutant embryos. Axons stalled at a variety of positions along their normal trajectory, but most commonly in the periphery some distance along the peripheral nerve. All lateral and dorsal cluster sensory neurons examined, except for the dorsal cluster neuron dbd, showed stalling. Sensory axons were never seen to project along inappropriate pathways in neuroglian mutants and stalled axons showed normal patterns of fasciculation within nerves. The growth cones of stalled axons possessed a simple morphology, similar to their appearance in wild-type embryos when advancing along nerves. Driving expression of the wild-type form of Neuroglian in sensory neurons alone rescued the neuroglian mutant phenotype of both pioneering and follower neurons. A partial rescue was achieved by expressing the Neuroglian extracellular domain. Over/mis-expression of Neuroglian in all neurons, oenocytes or trachea had no apparent effect on sensory axon growth. Conclusion We conclude that Neuroglian is necessary to maintain axon advance along axonal substrates, but is not required for initiation of axon outgrowth, axon fasciculation or recognition of correct growth substrates. Expression of Neuroglian in sensory neurons alone is sufficient to promote axon advance and the intracellular region of the molecule is largely dispensable for this function. It is unlikely, therefore, that Nrg acts as a molecular 'clutch' to couple adhesion of F-actin within the growth cone to the

  11. Molecular approach of auditory neuropathy.

    Science.gov (United States)

    Silva, Magali Aparecida Orate Menezes da; Piatto, Vânia Belintani; Maniglia, Jose Victor

    2015-01-01

    Mutations in the otoferlin gene are responsible for auditory neuropathy. To investigate the prevalence of mutations in the mutations in the otoferlin gene in patients with and without auditory neuropathy. This original cross-sectional case study evaluated 16 index cases with auditory neuropathy, 13 patients with sensorineural hearing loss, and 20 normal-hearing subjects. DNA was extracted from peripheral blood leukocytes, and the mutations in the otoferlin gene sites were amplified by polymerase chain reaction/restriction fragment length polymorphism. The 16 index cases included nine (56%) females and seven (44%) males. The 13 deaf patients comprised seven (54%) males and six (46%) females. Among the 20 normal-hearing subjects, 13 (65%) were males and seven were (35%) females. Thirteen (81%) index cases had wild-type genotype (AA) and three (19%) had the heterozygous AG genotype for IVS8-2A-G (intron 8) mutation. The 5473C-G (exon 44) mutation was found in a heterozygous state (CG) in seven (44%) index cases and nine (56%) had the wild-type allele (CC). Of these mutants, two (25%) were compound heterozygotes for the mutations found in intron 8 and exon 44. All patients with sensorineural hearing loss and normal-hearing individuals did not have mutations (100%). There are differences at the molecular level in patients with and without auditory neuropathy. Copyright © 2015 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  12. Transcriptional profiling of diabetic neuropathy in the BKS db/db mouse: a model of type 2 diabetes.

    Science.gov (United States)

    Pande, Manjusha; Hur, Junguk; Hong, Yu; Backus, Carey; Hayes, John M; Oh, Sang Su; Kretzler, Matthias; Feldman, Eva L

    2011-07-01

    A better understanding of the molecular mechanisms underlying the development and progression of diabetic neuropathy (DN) is essential for the design of mechanism-based therapies. We examined changes in global gene expression to define pathways regulated by diabetes in peripheral nerve. Microarray data for 24-week-old BKS db/db and db/+ mouse sciatic nerve were analyzed to define significantly differentially expressed genes (DEGs); DEGs were further analyzed to identify regulated biological processes and pathways. Expression profile clustering was performed to identify coexpressed DEGs. A set of coexpressed lipid metabolism genes was used for promoter sequence analysis. Gene expression changes are consistent with structural changes of axonal degeneration. Pathways regulated in the db/db nerve include lipid metabolism, carbohydrate metabolism, energy metabolism, peroxisome proliferator-activated receptor signaling, apoptosis, and axon guidance. Promoter sequences of lipid metabolism-related genes exhibit evidence of coregulation of lipid metabolism and nervous system development genes. Our data support existing hypotheses regarding hyperglycemia-mediated nerve damage in DN. Moreover, our analyses revealed a possible coregulation mechanism connecting hyperlipidemia and axonal degeneration. © 2011 by the American Diabetes Association.

  13. Neuropathy Tests

    Science.gov (United States)

    ... Culture Blood Gases Blood Ketones Blood Smear Blood Typing Blood Urea Nitrogen (BUN) BNP and NT-proBNP ... Luteinizing Hormone (LH) Lyme Disease Tests Magnesium Maternal Serum Screening, Second Trimester Measles and Mumps Tests Mercury ...

  14. Inflammatory mediator bradykinin increases population of sensory neurons expressing functional T-type Ca(2+) channels.

    Science.gov (United States)

    Huang, Dongyang; Liang, Ce; Zhang, Fan; Men, Hongchao; Du, Xiaona; Gamper, Nikita; Zhang, Hailin

    2016-04-29

    T-type Ca(2+) channels are important regulators of peripheral sensory neuron excitability. Accordingly, T-type Ca(2+) currents are often increased in various pathological pain conditions, such as inflammation or nerve injury. Here we investigated effects of inflammation on functional expression of T-type Ca(2+) channels in small-diameter cultured dorsal root ganglion (DRG) neurons. We found that overnight treatment of DRG cultures with a cocktail of inflammatory mediators bradykinin (BK), adenosine triphosphate (ATP), norepinephrine (NE) and prostaglandin E2 (PGE2) strongly increased the population size of the small-diameter neurons displaying low-voltage activated (LVA, T-type) Ca(2+) currents while having no effect on the peak LVA current amplitude. When applied individually, BK and ATP also increased the population size of LVA-positive neurons while NE and PGE2 had no effect. The PLC inhibitor U-73122 and B2 receptor antagonist, Hoe-140, both abolished the increase of the population of LVA-positive DRG neurons. Inflammatory treatment did not affect CaV3.2 mRNA or protein levels in DRG cultures. Furthermore, an ubiquitination inhibitor, MG132, did not increase the population of LVA-positive neurons. Our data suggest that inflammatory mediators BK and ATP increase the abundance of LVA-positive DRG neurons in total neuronal population by stimulating the recruitment of a 'reserve pool' of CaV3.2 channels, particularly in neurons that do not display measurable LVA currents under control conditions. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

  15. The financial costs of healthcare treatment for people with Type 1 or Type 2 diabetes in the UK with particular reference to differing severity of peripheral neuropathy.

    Science.gov (United States)

    Currie, C J; Poole, C D; Woehl, A; Morgan, C Ll; Cawley, S; Rousculp, M D; Covington, M T; Peters, J R

    2007-02-01

    To characterize symptom severity of diabetic peripheral neuropathy (DPN) in people with diabetes and to characterize its association with healthcare resource use. The study was undertaken in Cardiff and the Vale of Glamorgan, UK. A postal survey was posted to subjects identified as having diabetes. Demography, quality of life (EQ-5D and SF-36) and symptoms of neuropathy (NTSS-6 and QOL-DN) data were collected. These data were linked to routine healthcare data coded into healthcare resource groups (HRGs) and subsequently costed according to UK National reference costs. Survey responses were received from 1298 patients, a 32% response rate. For patients with a clinically confirmed diagnosis of DPN, the mean NTSS-6-SA score was 6.16 vs. 3.19 (P SA score was a significant predictor of both annual health resource costs and yearly prescribed drug costs. On average, each 1-point increase in NTSS-6-SA score predicted a 6% increase in primary and secondary care costs and a 3% increase in log transformed drug costs. This study demonstrated that severity of DPN symptoms was associated with increased healthcare resource use, thus costs.

  16. Effect of the addition of different types of oenological commercial tannins on phenolic and sensorial red wine characteristics evolution

    Directory of Open Access Journals (Sweden)

    Jordão António M.

    2016-01-01

    Full Text Available The main objective of this work was to understand the effect of the addition of different commercial types of oenological tannins on red wine phenolic compounds and sensorial characteristics evolution. So, six different commercial oenological tannins obtained from different sources at an average dosage recommended by the manufactures were added to a red wine. During 120 wine aging days several phenolic parameters were analyzed (including several individual phenolic compounds by HPLC and also the sensorial characteristics of the wines. Wines treated with oenological tannins showed higher total phenols and flavonoid phenols and lesser color degradation during the aging time considered. After 120 aging days, wines aged with oenological tannins showed more total and individual anthocyanins and significantly more red color that induced significantly color differences in relation to the untreated wine (especially for the wines treated with condensed tannins. From a sensorial point of view it was also possible to detect a clear differentiation between the wines.

  17. Intraoral neuropathy.

    Science.gov (United States)

    Merrill, Robert L

    2004-10-01

    Chronic nonodontogenic toothache has been reported in the literature since the 1700s. This problem has followed a similar scenario since those first reports. The patient typically is misdiagnosed and then subjected to multiple unnecessary procedures, ultimately resulting in tooth extractions because of dentists and physicians being unaware of the existence of atypical odontalgia and other types of intraoral neuropathic pain that are treatable without sacrificing the teeth. This paper reviews the medications and procedures used to treat nonodontogenic toothache.

  18. Textural and sensory characteristics of whole and skimmed flavored set-type yogurt during long storage.

    Science.gov (United States)

    Salvador, A; Fiszman, S M

    2004-12-01

    A study of refrigerated storage (10 degrees C for 91 d) of whole and skimmed flavored set-type yogurt was made. Comparison with storage at 20 degrees C for 21 d and 30 degrees C for 3 d (accelerated) was also carried out. Refrigerated storage yogurts were assessed by a trained panel and by a consumer panel. Trained-panel scores were correlated to instrumental data, and the acceptability data for long storage were studied using consumer criteria. In all cases, after-storage pH values barely changed over storage time, indicating that the yogurt samples did not develop much acidity under any of the storage conditions studied. The profile of the instrumental texture curves obtained corresponded to a firm gel, which broke after a plunger penetrated the sample, and the firmness values of the whole yogurt were lower than for the skimmed yogurt under all the storage conditions studied. From a microbiological point of view, the viability of the yogurts was adequate at the different storage times and temperatures studied, although those stored at 10 degrees C for long periods would not comply with some countries' minimum requirements. Logistic regression of the data from a 50-consumer sensory evaluation showed that the probability of the whole yogurt being accepted after 91 d storage at 10 degrees C was around 40%, whereas for the skimmed yogurt it was only 15%, largely because the skimmed yogurt developed certain negative attributes at an earlier stage of storage than the whole yogurt.

  19. Genetically determined optic neuropathies

    DEFF Research Database (Denmark)

    Milea, Dan; Amati-Bonneau, Patrizia; Reynier, Pascal

    2010-01-01

    The present review focuses on recent advances in the knowledge of hereditary optic neuropathies resulting from retinal ganglion cell degeneration, mostly due to mitochondrial dysfunctions.......The present review focuses on recent advances in the knowledge of hereditary optic neuropathies resulting from retinal ganglion cell degeneration, mostly due to mitochondrial dysfunctions....

  20. Propylthiouracil and peripheral neuropathy

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    Valentina Van Boekel

    1992-06-01

    Full Text Available Peripheral neuropathy is a rare manifestation in hyperthyroidism. We describe the neurological manifestations of a 38 year old female with Graves' disease who developed peripheral neuropathy in the course of her treatment with propylthiouracil. After the drug was tapered off, the neurological signs disappeared. Therefore, we call attention for a possible toxic effect on peripheral nervous system caused by this drug.

  1. Lack of on-going adaptations in the soleus muscle activity during walking in patients affected by large-fiber neuropathy

    DEFF Research Database (Denmark)

    Nazarena, Mazzaro; Grey, Michael James; Sinkjær, Thomas

    2005-01-01

    applied during the stance phase of the gait cycle to mimic the normal variability of the ankle trajectory during walking. Patients with demyelination of large sensory fibers (Charcot-Marie-Tooth type 1A and antibodies to myelin-associated glycoprotein neuropathy) and age-matched controls participated...... in this study. The patients had absent light-touch sense in the toes and feet and absent quadriceps and Achilles tendon reflexes, indicating functional loss of large sensory fibers. Moreover, their soleus stretch reflex response consisted of a single electromyographic (EMG) burst with delayed onset and longer...

  2. Prevalence of Charcot arthropathy in Type 2 diabetes patients aged over 50 years with severe peripheral neuropathy: A retrospective study in a Tertiary Care South Indian Hospital

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    Dharmadas Salini

    2018-01-01

    Full Text Available Aims: Available literature on the prevalence of Charcot arthropathy (CA represents mainly Western population. No study has been reported from India so far. Hence we attempted to study the prevalence of CA in patients with type 2 diabetes mellitus and severe peripheral neuropathy (T2DMPN, belonging to Indian population amongst whom type 2 diabetes is on the rise in alarming proportions. Materials and Methods: Medical records of 3387 patients who performed an objective vibration perception threshold test during the year 2015 were screened for T2DMPN. Out of these, 1475 T2DMPN patients above 50 years were selected and analyzed in detail for CA. CA was diagnosed based on clinical features and/or radiological investigations. The anatomical localization of the disease distribution of the affected foot was done according to Brodsky's classification. Results: The prevalence of CA in T2DMPN patients was found to be 9.8%. The mean age of patients diagnosed with CA was 63 ± 8.36 years, and mean duration of DM for CA to develop was 18.01 ± 8.23 years. About 62.5% of the patients were male and 37.5% female. Bilateral presentation of CA was observed in 20.8% of patients. Multiple sites of the foot were affected in 48.6% of patients and belonged to type 4 classification of Brodsky. Conclusions: A high prevalence of CA (9.8% was observed in the present study conducted on T2DMPN patients who presented to the endocrinology department of a tertiary care South Indian hospital. In the majority of patients, the area of foot affected belonged to type 4 classification of Brodsky.

  3. Reduced Lower-Limb Muscle Strength and Volume in Patients With Type 2 Diabetes in Relation to Neuropathy, Intramuscular Fat, and Vitamin D Levels.

    Science.gov (United States)

    Almurdhi, Monirah M; Reeves, Neil D; Bowling, Frank L; Boulton, Andrew J M; Jeziorska, Maria; Malik, Rayaz A

    2016-03-01

    Muscle weakness and atrophy of the lower limbs may develop in patients with diabetes, increasing their risk of falls. The underlying basis of these abnormalities has not been fully explained. The aim of this study was to objectively quantify muscle strength and size in patients with type 2 diabetes mellitus (T2DM) in relation to the severity of neuropathy, intramuscular noncontractile tissue (IMNCT), and vitamin D deficiency. Twenty patients with T2DM and 20 healthy control subjects were matched by age, sex, and BMI. Strength and size of knee extensor, flexor, and ankle plantar and dorsiflexor muscles were assessed in relation to the severity of diabetic sensorimotor polyneuropathy (DSPN), amount of IMNCT, and serum 25-hydroxyvitamin D (25OHD) levels. Compared with control subjects, patients with T2DM had significantly reduced knee extensor strength (P = 0.003) and reduced muscle volume of both knee extensors (P = 0.045) and flexors (P = 0.019). Ankle plantar flexor strength was also significantly reduced (P = 0.001) but without a reduction in ankle plantar flexor (P = 0.23) and dorsiflexor (P = 0.45) muscle volumes. IMNCT was significantly increased in the ankle plantar (P = 0.006) and dorsiflexors (P = 0.005). Patients with DSPN had significantly less knee extensor strength than those without (P = 0.02) but showed no difference in knee extensor volume (P = 0.38) and ankle plantar flexor strength (P = 0.21) or volume (P = 0.96). In patients with 25 nmol/L 25OHD, no significant differences were found for knee extensor strength and volume (P = 0.32 vs. 0.18) and ankle plantar flexors (P = 0.58 vs. 0.12). Patients with T2DM have a significant reduction in proximal and distal leg muscle strength and a proximal but not distal reduction in muscle volume possibly due to greater intramuscular fat accumulation in distal muscles. Proximal but not distal muscle strength is related to the severity of peripheral neuropathy but not IMNCT or 25OHD level. © 2016 by the American

  4. Two Cases of Elderly-Onset Hereditary Neuropathy with Liability to Pressure Palsy Manifesting Bilateral Peroneal Nerve Palsies

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    Norihiko Kawaguchi

    2012-10-01

    Full Text Available Hereditary neuropathy with liability to pressure palsy (HNPP is characterized by recurrent focal neuropathies, which usually become symptomatic in the second or third decade of life. However, clinical phenotypic heterogeneity among patients with HNPP has recently been reported. Certain patients show polyneuropathy-type diffuse nerve injuries, whereas others remain asymptomatic at older ages. We present two cases of elderly-onset bilateral peroneal nerve palsies with diffuse muscle weakness in the lower limbs and glove-and-stocking type sensory disturbance. Both patients were diagnosed with HNPP by genetic analyses that detected deletions of chromosome 17p11.2 in peripheral myelin protein 22 genes. Their clinical courses suggested that the Japanese sitting style termed ‘seiza’, a way of sitting on the floor with the lower legs crossed under the thighs, was a precipitating factor for the bilateral peroneal nerve palsies.

  5. SENSORY PROPERTIES OF SOME WHITE WINES, FLAVORED WINES AND VERMOUTH TYPE WINES, PREPARED BY USING OWN RECIPES

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    Rodica Elena CULEA

    2015-04-01

    Full Text Available In order to characterize, from sensorial point of view, the basic white wines White Fetească, Italian Riesling, Sauvignon Blanc, as well as flavored wines and vermouth type wines, obtained by addition of hydroalcoholic plants macerates to basic wines, tasting technique was used. It is known that sensory analysis is a method that can provide an overview of a wine. The main features analyzed were: appearance, color, smell and taste. Initial, wines presented specific features of grapes variety from which they belong, being characterized by harmony and complex flavor. The hydroalcoholic macerates were obtained by preparing two recipes (labeled I and II of different mixtures of plants. Recipes I A in 45% alcohol and I B in 60% alcohol, had characteristics of appearance, color, taste and smell, very intense, specific, prevailing the taste of anise, fennel and coriander. The macerates prepared with recipes II A in 45% alcohol and II B in 60% alcohol (mixture of a few herbs and peel of citrus fruits showed peculiarities of taste, odor, flavor less intense, prevailing the smell of nutmeg and citrus flavor. Recipes I A and I B of hydroalcoholic plants macerates decisively influenced the color, taste, flavor, smell and appearance of flavored wines. Recipes II A and II B influenced discreetly the sensory properties of flavored wines. Vermouth type wines obtained by addition of hydroalcoholic plants macerates + other ingredients (citric acid, alcohol, sugar, presented harmonious sensory characteristics, balanced, discreet, subtle, compared with flavored wines obtained only by the addition of hydroalcoholic plants macerates to the basic wines. The latter had a color, aroma, taste, smell, more intense, more rustic. Herbal recipes I B and II B (prepared in 60% alcohol, have strongly influenced the sensory properties of flavored wines, compared to recipes I A and II A (prepared in 45% alcohol.

  6. Diabetic neuropathy is not associated with homocysteine, folate, vitamin B12 levels, and MTHFR C677T mutation in type 2 diabetic outpatients taking metformin.

    Science.gov (United States)

    Russo, G T; Giandalia, A; Romeo, E L; Scarcella, C; Gambadoro, N; Zingale, R; Forte, F; Perdichizzi, G; Alibrandi, A; Cucinotta, D

    2016-03-01

    Hyperhomocysteinemia and vitamin B12 deficiency may be involved in the development of diabetic peripheral neuropathy (DPN). Metformin therapy may reduce vitamin B12 plasma levels, thus contributing to DPN. The purposes of this cross-sectional study were to assess (1) the potential associations of DPN with serum levels of homocysteine (tHcy), B-vitamins, and/or the common methylenetetrahydrofolate reductase (MTHFR) C677T mutation; (2) the influence of chronic treatment with metformin on tHcy and B-vitamins concentrations and, finally, (3) to evaluate whether, by this influence, metformin is a risk factor for DPN in a group of type 2 diabetic outpatients. Our data showed that fasting tHcy, folate, and vitamin B12 levels and the MTHFR C677T genotype distribution were comparable between subjects with (n = 79, 30 %) and without DPN (n = 184, 70 %). Metformin-treated subjects (n = 124, 47 %) showed significantly lower levels of vitamin B12 (P vitamin B12 level reduction, but not with DPN.

  7. Prevalence and risk factors of diabetic peripheral neuropathy in Type 2 diabetes mellitus patients with overweight/obese in Guangdong province, China.

    Science.gov (United States)

    Li, Li; Chen, Jiali; Wang, Jiao; Cai, Dehong

    2015-06-01

    To investigate the prevalence and risk factors of diabetic peripheral neuropathy (DPN) in Type 2 diabetes mellitus (T2DM) patients with overweight or obese in Guangdong province in China. A cross-sectional study was carried out on T2DM patients with overweight/obese in 60 hospitals in Guangdong province. Methods of data collection included questionnaire, clinical examination, blood draw and clinical measurement. Demographic characteristics, diagnosis of diabetes and DPN, disease history, life styles and self-management, most recent laboratory test results and physical examination were collected. Binary logistic regression was used to assess risk factors of DPN. A total of 3359 T2DM patients (age range 20-90 years) were recruited. The overall prevalence of DPN was 33.1%. Binary logistic regression identified age (odds ratio [OR]: 1.016, 95% confidence interval [CI]: 1.008, 1.024), duration of diabetes mellitus (OR: 1.072, 95% CI: 1.056, 1.087) and HbA1c (OR: 1.053, 95% CI: 1.013, 1.095) as risk factors for the presence of DPN. DPN is prevalent in T2DM patients with overweight or obese in Guangdong province in China and is significantly associated with age, HbA1c and duration of diabetes. Copyright © 2014 Primary Care Diabetes Europe. Published by Elsevier Ltd. All rights reserved.

  8. Blink reflex in type 2 diabetes mellitus.

    Science.gov (United States)

    Elkholy, Saly H; Hosny, Hanan M; Shalaby, Nevein M; El-Hadidy, Reem A; Abd El-Rahim, Noha T; Mohamed, Manal M

    2014-12-01

    An evaluation of the extent of damage of the central nervous system in diabetes mellitus is of high value in current research. Electrophysiological abnormalities are frequently present in asymptomatic patients with diabetes mellitus. Diabetic cranial neuropathy is one of the complications of the disease. Blink reflex is used to diagnose subclinical cranial neuropathy. The objective is to test the utility of blink reflex in detecting subclinical cranial nerve involvement in patients with type 2 diabetes mellitus. Forty patients with type 2 diabetes mellitus, aged from 30 to 60 years examined clinically and neurologically. Blink reflex and nerve conduction studies for the upper and lower limbs were performed and compared with 20 matched normal controls. Diabetic patients with peripheral neuropathy showed significant prolonged distal latency and reduced amplitudes of the R2C response compared with the control, patients without peripheral neuropathy showed insignificant changes. Alteration of R2 correlated with the type of treatment and the duration of the disease. In patients without peripheral neuropathy, ulnar sensory distal latencies showed significant positive correlation with R2I latency, whereas its Conduction Velocity (CV) showed significant positive correlation with R2C amplitudes and negative correlation with R2C latency. R2C is the most sensitive parameter in the blink reflex, which can help in the diagnosis of subclinical diabetic cranial neuropathy.

  9. The use of inulin as fat replacer and its effect on texture and sensory properties of emulsion type sausages.

    Science.gov (United States)

    Berizi, E; Shekarforoush, S S; Mohammadinezhad, S; Hosseinzadeh, S; Farahnaki, A

    2017-01-01

    The present study aimed to investigate the possibility of reducing energy content in emulsion type sausages by replacing fat with inulin. In the manufactured product, the fat content was reduced to 6%-18% and replaced by inulin and water. The quality of the resulting product was determined by chemical and texture profile analyses (TPA), color measurement and sensory evaluation. The results showed that replacing fat with inulin led to a significant energy content reduction of up to 64% (with 6% inulin and 12% water). In addition, color measurement, sensory evaluation and TPA were comparable to the traditional product in the inulin treated samples. The overall acceptability of all experimental groups was adequate; therefore, inulin is suggested as a good replacement for fat in emulsion type sausages.

  10. Cardiovascular Risk Factors Increase the Risks of Diabetic Peripheral Neuropathy in Patients With Type 2 Diabetes Mellitus: The Taiwan Diabetes Study.

    Science.gov (United States)

    Yang, Chun-Pai; Lin, Cheng-Chieh; Li, Chia-Ing; Liu, Chiu-Shong; Lin, Wen-Yuan; Hwang, Kai-Lin; Yang, Sing-Yu; Chen, Hsuan-Ju; Li, Tsai-Chung

    2015-10-01

    This study aimed to examine whether poor glycemic control, measured by glycated hemoglobin A1C (HbA1c) and other cardiovascular risk factors, can predict diabetic peripheral neuropathy (DPN) in patients with type 2 diabetes mellitus (DM).Patients aged ≥30 years with type 2 DM, enrolled in the National Diabetes Care Management Program, and free of DPN (n = 37,375) in the period 2002 to 2004 were included and followed up until 2011. The related factors were analyzed using Cox proportional hazards regression models.For an average follow-up of 7.00 years, 8379 cases of DPN were identified, with a crude incidence rate of 32.04/1000 person-years. After multivariate adjustment, patients with HbA1c levels 7 to 8%, 8 to 9%, 9 to 10%, and ≥10% exhibited higher risk of DPN (adjusted HR: 1.11 [1.04-1.20], 1.30 [1.21-1.40], 1.32 [1.22-1.43], and 1.62 [1.51-1.74], respectively) compared with patients with HbA1c level 6 to 7%. There was a significant linear trend in DPN incidence with increasing HbA1c (P patients with HbA1c level ≥7%, blood pressure ≥130/85 mm Hg, triglycerides (TG) ≥150 mg/dL, high density of lipoprotein-cholesterol (HDL-C) Patients with type 2 DM and HbA1c ≥7.0% exhibit increased risk of DPN, demonstrating a linear relationship. The incidence of DPN is also associated with poor glucose control and cardiovascular risk factors like hypertension, hyper-triglyceridemia, low HDL-C, high LDL-C, and decreased eGFR.

  11. The use of inulin as fat replacer and its effect on texture and sensory properties of emulsion type sausages

    OpenAIRE

    Berizi, E.; Shekarforoush, S. S.; Mohammadinezhad, S.; Hosseinzadeh, S.; Farahnaki, A.

    2017-01-01

    The present study aimed to investigate the possibility of reducing energy content in emulsion type sausages by replacing fat with inulin. In the manufactured product, the fat content was reduced to 6%-18% and replaced by inulin and water. The quality of the resulting product was determined by chemical and texture profile analyses (TPA), color measurement and sensory evaluation. The results showed that replacing fat with inulin led to a significant energy content reduction of up to 64% (with 6...

  12. Machado-Joseph disease presenting as severe asymmetric proximal neuropathy

    NARCIS (Netherlands)

    van Schaik, I. N.; Jöbsis, G. J.; Vermeulen, M.; Keizers, H.; Bolhuis, P. A.; de Visser, M.

    1997-01-01

    Despite much effort, a 74 year old man with progressive proximal weakness and sensory disturbances due to axonal neuropathy remained a diagnostic problem. Investigation of his family disclosed an additional patient with a cerebellar syndrome and a family member with mainly pyramidal features.

  13. Correlation between serum vitamin B12 level and peripheral neuropathy in atrophic gastritis

    Science.gov (United States)

    Yang, Guo-Tao; Zhao, Hong-Ying; Kong, Yu; Sun, Ning-Ning; Dong, Ai-Qin

    2018-01-01

    AIM To explore the correlation between serum vitamin B12 level and peripheral neuropathy in patients with chronic atrophic gastritis (CAG). METHODS A total of 593 patients diagnosed with chronic gastritis by gastroscopy and pathological examination from September 2013 to September 2016 were selected for this study. The age of these patients ranged within 18- to 75-years-old. Blood pressure, height and weight were measured in each patient, and the body mass index value was calculated. Furthermore, gastric acid, serum gastrin, serum vitamin and serum creatinine tests were performed, and peripheral nerve conduction velocity and Helicobacter pylori (H. pylori) were detected. In addition, the type of gastritis was determined by gastroscopy. The above factors were used as independent variables to analyze chronic gastritis with peripheral neuropathy and vitamin B12 deficiency risk factors, and to analyze the relationship between vitamin B12 levels and peripheral nerve conduction velocity. In addition, in the treatment of CAG on the basis of vitamin B12, patients with peripheral neuropathy were observed. RESULTS Age, H. pylori infection, CAG, vitamin B9 and vitamin B12 were risk factors for the occurrence of peripheral nerve degeneration. Furthermore, CAG and H. pylori infection were risk factors for chronic gastritis associated with vitamin B12 deficiency. Serum vitamin B12 level was positively correlated with sensory nerve conduction velocity in the tibial nerve (R = 0.463). After vitamin B12 supplementation, patients with peripheral neuropathy improved. CONCLUSION Serum vitamin B12 levels in patients with chronic gastritis significantly decreased, and the occurrence of peripheral neuropathy had a certain correlation. CAG and H. pylori infection are risk factors for vitamin B12 deficiency and peripheral neuropathy. When treating CAG, vitamin B12 supplementation can significantly reduce peripheral nervous system lesions. Therefore, the occurrence of peripheral neuropathy

  14. Vibromyography of oral processing varies with type of semi-solid food and with sensory judgements

    NARCIS (Netherlands)

    Wijk, R.A.de; Polet, I.A.; Bult, J.H.F.; Prinz, J.F.

    2008-01-01

    Vibromyography was used to quantify oral activity during the processing of well-characterized semi-solid model foods whilst subjects assessed the intensity of the sensory attributes to thick, creamy, melting, fatty, rough and liking. A series of eleven starch-based vanilla custard desserts was

  15. Rheological properties and sensory characteristics of set-type soy yogurt.

    Science.gov (United States)

    Donkor, Osaana N; Henriksson, A; Vasiljevic, T; Shah, N P

    2007-11-28

    The study examined chemical composition and rheological and sensory properties of probiotic soy yogurt during 28 day storage at 4 degrees C. Soymilk supplemented with 2% (w/v) inulin or 1% (w/v) each of raffinose and glucose was used as a base for soy yogurt manufacture. Viability of probiotic organisms and their metabolic activity measured as production of organic acids and aldehyde content responsible for beany flavor, as well as rheological and sensory properties of soy yogurt, were examined. Inulin or raffinose/glucose supplementation in soymilk increased the bacterial population by one log cycle and the amount of lactic acid. Probiotic bacteria metabolized more aldehyde than yogurt culture and substantially reduced the beaniness in soy yogurt as determined by sensory evaluation. The probiotic soy yogurts showed more viscous and pseudoplastic properties than the control soy yogurts, but the sensory evaluation results showed preference for the control soy yogurts which were slightly less viscous. Control soy yogurt provided better mouth feel than probiotic soy yogurts.

  16. Evaluation of PMI-5011, an ethanolic extract of Artemisia dracunculus L., on peripheral neuropathy in streptozotocin-diabetic mice.

    Science.gov (United States)

    Watcho, Pierre; Stavniichuk, Roman; Tane, Pierre; Shevalye, Hanna; Maksimchyk, Yury; Pacher, Pal; Obrosova, Irina G

    2011-03-01

    We previously reported that PMI-5011, an ethanolic extract of Artemisia dracunculus L., alleviates peripheral neuropathy in high fat diet-fed mice, a model of prediabetes and obesity developing oxidative stress and pro-inflammatory changes in the peripheral nervous system. This study evaluated PMI-5011 on established functional, structural, and biochemical changes associated with Type I diabetic peripheral neuropathy. C57Bl6/J mice with streptozotocin-induced diabetes of a 12-week duration, developed motor and sensory nerve conduction velocity deficits, thermal and mechanical hypoalgesia, tactile allodynia, and intra-epidermal nerve fiber loss. PMI-5011 (500 mg/kg/day for 7 weeks) alleviated diabetes-induced nerve conduction slowing, small sensory nerve fiber dysfunction, and increased intra-epidermal nerve fiber density. PMI-5011 blunted sciatic nerve and spinal cord 12/15-lipoxygenase activation and oxidative-nitrosative stress, without ameliorating hyperglycemia or reducing sciatic nerve sorbitol pathway intermediate accumulation. In conclusion, PMI-5011, a safe and non-toxic botanical extract, may find use in the treatment of diabetic peripheral neuropathy.

  17. Multifocal Motor Neuropathy

    Science.gov (United States)

    ... of finding ways to prevent, treat, and, ultimately, cure them. Show More Show Less ... Definition Multifocal motor neuropathy is a progressive muscle disorder characterized by muscle weakness in the hands, with differences from one side of the body ...

  18. Sensory pollution from bag-type fiberglass ventilation filters: Conventional filter compared with filters containing various amounts of activated carbon

    DEFF Research Database (Denmark)

    Bekö, Gabriel; Fadeyi, M.O.; Clausen, Geo

    2009-01-01

    was judged to be significantly better than the air downstream of the 6-month-old F7 filter, and was comparable to that from an unused F7 filter. Additionally, the combination filters removed more ozone from the air than the F7 filter, with their respective fractional removal efficiencies roughly scaling......As ventilation filters accumulate particles removed from the airstream, they become emitters of sensory pollutants that degrade indoor air quality. Previously we demonstrated that an F7 bag-type filter that incorporates activated carbon (a "combination filter") reduces this adverse effect compared...... to an equivalent filter without carbon. The aim of the present study was to examine how the amount of activated carbon (AC) used in combination filters affects their ability to remove both sensory offending pollutants and ozone. A panel evaluated the air downstream of four different filters after each had...

  19. Painful Traumatic Trigeminal Neuropathy.

    Science.gov (United States)

    Rafael, Benoliel; Sorin, Teich; Eli, Eliav

    2016-08-01

    This article discusses neuropathic pain of traumatic origin affecting the trigeminal nerve. This syndrome has been termed painful traumatic trigeminal neuropathy by the International Headache Society and replaces atypical odontalgia, deafferentation pain, traumatic neuropathy, and phantom toothache. The discussion emphasizes the diagnosis and the early and late management of injuries to the trigeminal nerve and subsequent painful conditions. Copyright © 2016 Elsevier Inc. All rights reserved.

  20. Clinical Spectrum, Therapeutic Outcomes, and Prognostic Predictors in Sjogren's Syndrome-associated Neuropathy.

    Science.gov (United States)

    Sivadasan, Ajith; Muthusamy, Karthik; Patel, Bimal; Benjamin, Rohit Ninan; Prabhakar, A T; Mathew, Vivek; Aaron, Sanjith; Alexander, Mathew

    2017-01-01

    There are limited data regarding long-term follow-up and therapeutic outcomes in Sjogren's syndrome (SS)-associated peripheral neuropathy. In this study, we aim to study the clinical, electrophysiological spectrum and therapeutic responses among the different subtypes of SS-associated neuropathy. The predictors of suboptimal treatment response will be identified. The study included a retrospective cohort of patients with SS-associated neuropathy between January 2012 and November 2015. Baseline clinical, laboratory, electrophysiological data and details of treatment were noted. Therapeutic outcomes were assessed at follow-up and compared among the different subtypes. Prognostic predictors were determined using logistic regression analysis. Fifty-four patients were included in the study. Sensory ataxic neuropathy (17, including 9 with sensory ganglionopathy) and radiculoneuropathy (11) were the main subtypes. Notable atypical presentations included acute neuropathies, pure motor neuropathies, and hypertrophic neuropathy. Concomitant autoimmune disorders were present in 24 (44.4%) patients. Most presentations were subacute-chronic (51, 94.4%). Minor salivary gland biopsy had a higher yield compared to serological markers (81.5 vs. 44.4%). Sensory ataxic neuropathy was associated with greater severity and autonomic dysfunction. Improvement was noted in 33 (61%) patients. Cranial neuropathy and radiculoneuropathy subtypes were associated with the best treatment responses. Chronicity, orthostatic hypotension, baseline severity, and marked axonopathy (nerve biopsy) were predictive of a suboptimal therapeutic response. The study highlights the heterogeneous spectrum, atypical presentations, and differential therapeutic responses. SS-associated neuropathy remains underdiagnosed. Early diagnosis and prompt initiation of immunotherapy before worsening axonal degeneration is paramount. SS-associated neuropathy need not necessarily be associated with a poor prognosis.

  1. Itopride hydrochloride efficacy in the management of delayed gastric emptying in type 1 diabetis mellitus patients in the presence of autonomic neuropathy

    Directory of Open Access Journals (Sweden)

    Irina Yur’evna Budennaya

    2014-06-01

    Full Text Available AimEvaluation of the itopride (Ganaton®, Abbot therapy efficacy in the management of gastrointestinal (GI symptoms and gastric motor function (GMF in type 1 diabetis mellitus (T1DM patients (pts in the presence of GMF dysfunction and other forms of diabetic autonomic neuropathy (DAN.Materials and MethodsThe total of 34 patients with T1DM, GMF dysfunction and DAN were selected for randomized, prospective, open-label, comparative study. The duration of the study was 6 weeks. The study group (17 pts received itopride 150 mg total daily. The control group (17 pts did not receive any treatment for GMF. А questionnaire was used for the assessment of gastrointestinal (GI symptoms. Gastric emptying velocity was evaluated with 13C-octanoate breath test.ResultsAs a result of itopride therapy there was a statistically significant decrease in the amount of time (T1/2 needed for the gastric emptying. The median amount of time decreased from 89.0 [82.3; 101.0] min to 53.0 [82.3; 101.0] min (p<0.001; decrease of the incidents of gastroesophageal reflux (p=0.013 and symptoms of intestinal dyspepsia (p=0.005. In control group there was no change in parameters. There was no positive dynamics of glycaemic control parameters (fasting blood glucose, postprandial blood glucose, fructosamine, and no reduction in the frequency of hypoglycaemic episodes during the test in any of the groups.ConclusionsItopride therapy in T1DM patients with GMF dysfunction and DAN in the total daily dose of 150 mg improves gastric emptying velocity. This therapy also improves symptoms of gastroesophageal reflux and intestinal dyspepsia. Improvement GMF doesn’t lead to positive dynamics of glycaemic control parameters.

  2. Can coefficient of variation of time-domain analysis be valuable for detecting cardiovascular autonomic neuropathy in young patients with type 1 diabetes: a case control study.

    Science.gov (United States)

    Razanskaite-Virbickiene, Dovile; Danyte, Evalda; Mockeviciene, Giedre; Dobrovolskiene, Rimante; Verkauskiene, Rasa; Zalinkevicius, Rimantas

    2017-01-19

    Cardiovascular autonomic neuropathy (CAN) increases morbidity and mortality in diabetes through association with a high risk of cardiac arrhythmias and sudden death, possibly related to silent myocardial ischemia. During the sub-clinical stage, CAN can be detected through reduction in heart rate variability (HRV). The aim of our study was to estimate if the time and frequency-domain analysis can be valuable for detecting CAN in young patients with type 1 diabetes mellitus (T1DM). For this case control study of evaluation of cardiovascular autonomic function the 15-25 years age group of patients with duration of T1DM more than 9 years (n = 208, 89 males and 119 females) were selected. 67 patients with confirmed CAN were assigned to the "case group" and 141 patients without CAN served as a control group, the duration of T1DM was similar (15.07 ± 4.89 years vs.13.66 ± 4.02 years; p = 0.06) in both groups. Cardiovascular autonomic reflex tests and time and frequency domains analysis of HRV were performed for all subjects. Time domain measures were significantly lower in CAN group compared with control (p patients with CAN. Receivers operating characteristic (ROC) curves were constructed to compare the accuracies of the parameters of time-domain analysis for diagnosing CAN. We estimated a more reliable cut-off value of parameters of time-domain. The CV values in supine position cardiovascular autonomic function, providing more information about sympathetic and parasympathetic activity. The coefficient of variation (time-domain analysis) especially during deep breathing could be valuable for detecting CAN.

  3. Analysis of mutations in 17p 11.2 region in patients with Charcot-Marie-Tooth type 1 disease and patients with tomaculose neuropathy

    Directory of Open Access Journals (Sweden)

    Zamurović Nataša

    2002-01-01

    Full Text Available Charcot-Marie-Tooth type 1Α disease (CMT1A and hereditary neuropathy with liability to pressure palsies (HNPP are common inherited disorders of the peripheral nervous system associated with duplication and deletion respectively, of the 17p11.2 segment including the gene of peripheral myelin protein 22. We studied 48 subjects belonging to 29 families with clinical and electrophysiological signs of definite CMT1, 20 patients with suspected CMT phenotype, and 17 patients and healthy members of their families with HNPP. Blood sampling and DNA isolation, PCR, restriction analysis, southern blotting were performed using standard procedures. Of 48 patients with diagnosis of definite CMT1 in 25 (52% we found a 1.5 Mb tandem duplication in chromosome 17p11.2. These duplications were not found in any of 20 sporadic cases with the clinical phenotype of CMT but without reliable electrophysiological data. Only 13 (44.8%of 29 unrelated CMT1 patients from the first group had 17p11.2 duplications. Three of 4 sporadic cases (75% with definite CMT1 had 17p11.2 duplications. Of 17 patients from 6 families with HNPP deletion of 17p11.2 segment was found in 15 (88.2%, as well as in 5 (83.3% of six unrelated cases. Detection of CMT1A/HNPP recombination hotspot is a simple and reliable DNA diagnostic method, which is useful only for the patients with clinically already verified CMT1, and HNPP for further genetic counseling of patients and members of their families.

  4. Neuromuscular Hip Dysplasia in Charcot-Marie-Tooth Disease Type 1A

    Science.gov (United States)

    Bamford, Nigel S.; White, Klane K.; Robinett, Stephanie A.; Otto, Randolph K.; Gospe, Sidney M., Jr.

    2009-01-01

    Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting 36 in 100,000 people. CMT type 1A (hereditary motor and sensory neuropathy) is the most frequent form of this disease, affecting 60 to 80% of the CMT population, but its diagnosis may be delayed because of inconsistent clinical signs and…

  5. Toxin occurrence time in relation to sensorial changes in meat cans contaminated with Clostridium botulinum type B endospores.

    Science.gov (United States)

    Palec, W

    1996-01-01

    The study concerning dissemination and expansion of spore-forming rods and the possibility of botulinum toxin occurrence was performed on meat cans model contaminated experimentally with Clostridium botulinum type B366 toxigenic strain endospores. Meat cans were contaminated with the spore suspension of 4 x 10(3) spores per can and they were stored at 30 degrees C. Methodically visible toxigenicity (biological assay performed on white mice) took place in 84.3% cases by the time deformation of contaminated cans took place. When the first can bulging occurred almost 50% of contaminated cans were sensorially estimated as useful for consumption but almost 40% of them already contained toxin. In comparison to contaminated cans estimated sensorially as useful for consumption (in each experimental group) the percentage was established where the presence of toxin was determined as "consumer's risk". The mean value of those percentages was 76.4% for all experimental groups. In the studies on the vegetation dynamics and C. botulinum rods and toxin expansion in contaminated cans, we demonstrated the spore-forming rods dissemination, as well as limited range of toxin occurrence. Undertaken studies demonstrate that the process of toxigenicity often precede of accumulation of metabolic gases responsible for cans' deformation, as well as generation of visible sensorial changes which disqualified the contaminated cans for consumption.

  6. Organophosphates induce distal axonal damage, but not brain oedema, by inactivating neuropathy target esterase

    International Nuclear Information System (INIS)

    Read, David J.; Li Yong; Chao, Moses V.; Cavanagh, John B.; Glynn, Paul

    2010-01-01

    Single doses of organophosphorus compounds (OP) which covalently inhibit neuropathy target esterase (NTE) can induce lower-limb paralysis and distal damage in long nerve axons. Clinical signs of neuropathy are evident 3 weeks post-OP dose in humans, cats and chickens. By contrast, clinical neuropathy in mice following acute dosing with OPs or any other toxic compound has never been reported. Moreover, dosing mice with ethyloctylphosphonofluoridate (EOPF) - an extremely potent NTE inhibitor - causes a different (subacute) neurotoxicity with brain oedema. These observations have raised the possibility that mice are intrinsically resistant to neuropathies induced by acute toxic insult, but may incur brain oedema, rather than distal axonal damage, when NTE is inactivated. Here we provide the first report that hind-limb dysfunction and extensive axonal damage can occur in mice 3 weeks after acute dosing with a toxic compound, bromophenylacetylurea. Three weeks after acutely dosing mice with neuropathic OPs no clinical signs were observed, but distal lesions were present in the longest spinal sensory axons. Similar lesions were evident in undosed nestin-cre:NTEfl/fl mice in which NTE had been genetically-deleted from neural tissue. The extent of OP-induced axonal damage in mice was related to the duration of NTE inactivation and, as reported in chickens, was promoted by post-dosing with phenylmethanesulfonylfluoride. However, phenyldipentylphosphinate, another promoting compound in chickens, itself induced in mice lesions different from the neuropathic OP type. Finally, EOPF induced subacute neurotoxicity with brain oedema in both wild-type and nestin-cre:NTEfl/fl mice indicating that the molecular target for this effect is not neural NTE.

  7. Neuropathy-specific alterations in a Mexican population of diabetic patients.

    Science.gov (United States)

    Carbajal-Ramírez, Angélica; García-Macedo, Rebeca; Díaz-García, Carlos Manlio; Sanchez-Soto, Carmen; Padrón, Araceli Méndez; de la Peña, Jorge Escobedo; Cruz, Miguel; Hiriart, Marcia

    2017-08-25

    Neuropathy is one of the major complications of type 2 diabetes mellitus. Our first aim was to determine the clinical characteristics of a population of diabetic patients with different types of neuropathy. Our next goal was to characterize the cytokine profile (IL-6 and IL-10), nerve growth factor (NGF) and circulating cell-adhesion molecules in these patients. Finally, we aimed to compare the renal function among the groups of neuropathic patients. In a cross-sectional study, we included 217 diabetic patients classified in three groups: sensory polyneuropathy with hypoesthesia (DS h P) or hyperesthesia (DS H P), and motor neuropathy (DMN). Two control groups were included: one of 26 diabetic non-neuropathic patients (DNN), and the other of 375 non-diabetic (ND) healthy subjects. The participants were attending to the Mexican Institute of Social Security. The circulating levels of NGF were significantly lower in diabetic patients, compared to healthy subjects. The range of IL-6 and IL-10 levels in neuropathic patients was higher than the control groups; however, several samples yielded null measurements. Neuropathic patients also showed increased circulating levels of the adhesion molecules ICAM, VCAM, and E-Selectin, compared to the ND group. Moreover, neuropathic patients showed reduced glomerular filtration rates compared to healthy subjects (82-103 ml/min per 1.73 m 2 , data as range from 25th-75th percentiles), especially in the group with DMN (45-76 ml/min per 1.73 m 2 ). Some particular alterations in neuropathic patients included -but were not limited to- changes in circulating NGF, cell adhesion molecules, inflammation, and the worsening of the renal function. This study supports the need for further clinical surveillance and interventions considering a neuropathy-related basis.

  8. Neurotrophin-3 is increased in skin in human diabetic neuropathy

    Science.gov (United States)

    Kennedy, A; Wellmer, A; Facer, P; Saldanha, G; Kopelman, P; Lindsay, R; Anand, P

    1998-01-01

    Neurotrophin-3 (NT-3), a member of the neurotrophin family, has been shown to be necessary for the development of muscle spindle and Merkel cell afferent nerve fibres in animal models.The presence of NT-3 in the suprabasal epidermis, where many unmyelinated sensory fibres terminate, has been shown for the first time. As these fibres are affected in early diabetic neuropathy and a clinical trial of recombinant human NT-3 in diabetic neuropathy is in progress, the concentrations of endogenous NT-3 in skin of 24 patients at different stages of diabetic polyneuropathy have been investigated. NT-3 concentrations, measured with a specific immunoassay, were significantly higher in affected skin biopsies from patients with diabetic neuropathy than matched control skin (diabetic skin 6.32(1.18) pg/mg v control skin 1.28 (0.05) (mean (SEM)); p<0.004, Mann-Whitney U test), particularly in the later stages. The optical density of NT-3-immunostaining was also significantly greater in the epidermis in diabetic patients (diabetic epidermis 0.30(0.06) v controls 0.24 (0.01); p<0.02). No correlation was found between individual quantitative sensory tests and the increase of NT-3 concentration. The increase of NT-3 seems to reflect the degree of skin denervation in diabetic neuropathy, and may represent a compensatory mechanism. The concentrations of NT-3 in other peripheral targets deserve study in diabetic neuropathy.

 PMID:9728960

  9. Type 1 diabetic patients with peripheral neuropathy have pan-enteric prolongation of gastrointestinal transit times and an altered caecal pH profile.

    Science.gov (United States)

    Farmer, Adam D; Pedersen, Anne Grave; Brock, Birgitte; Jakobsen, Poul Erik; Karmisholt, Jesper; Mohammed, Sahar D; Scott, S Mark; Drewes, Asbjørn Mohr; Brock, Christina

    2017-04-01

    We hypothesised that type 1 diabetic patients with established diabetic sensorimotor polyneuropathy (DSPN) would have segmental and/or pan-enteric dysmotility in comparison to healthy age-matched controls. We aimed to investigate the co-relationships between gastrointestinal function, degree of DSPN and clinical symptoms. An observational comparison was made between 48 patients with DSPN (39 men, mean age 50 years, range 29-71 years), representing the baseline data of an ongoing clinical trial (representing a secondary analysis of baseline data collected from an ongoing double-blind randomised controlled trial investigating the neuroprotective effects of liraglutide) and 41 healthy participants (16 men, mean age 49 years, range 30-78) who underwent a standardised wireless motility capsule test to assess gastrointestinal transit. In patients, vibration thresholds, the Michigan Neuropathy Screening Instrument and Patient Assessment of Upper Gastrointestinal Symptom questionnaires were recorded. Compared with healthy controls, patients showed prolonged gastric emptying (299 ± 289 vs 179 ± 49 min; p = 0.01), small bowel transit (289 ± 107 vs 224 ± 63 min; p = 0.001), colonic transit (2140, interquartile range [IQR] 1149-2799 min vs 1087, IQR 882-1650 min; p = 0.0001) and whole-gut transit time (2721, IQR 1196-3541 min vs 1475 (IQR 1278-2214) min; p pH across the ileocaecal junction (-1.8 ± 0.4 vs -1.3 ± 0.4 pH; p gastrointestinal transit times and a more acidic caecal pH, which may represent heightened caecal fermentation, are present in patients with type 1 diabetes. The potential implication of delayed gastrointestinal transit on the bioavailability of nutrition and on pharmacotherapeutic and glycaemic control warrants further investigation. EUDRA CT: 2013-004375-12.

  10. Effect of Ganoderma lucidum Powder on Oxidative Stability, Microbial and Sensory Properties of Emulsion Type Sausage

    Directory of Open Access Journals (Sweden)

    Runak Ghobadi

    2018-01-01

    Full Text Available Background: Ganoderma lucidum from Ganodermataceae family is a kind of mushroom known to have various therapeutic properties such as lowering high blood sugar and high blood pressure, boosting the immune system as well as its antibacterial and antioxidant effects. Materials and Methods: this study investigated the oxidative stability, microbial and sensory properties of sausage at three different treatments; (i 1% w/w Ganoderma lucidum powder (GLP without nitrite as a food preservative (P, (ii 0.5% w/w GLP with 80 ppm nitrite (N + P, and (iii sausage with 120 ppm nitrate (N. Lipid oxidation was evaluated using peroxide value (PV and thiobarbituric acid reactive species. Antimicrobial properties were assessed by total plate count (TPC, yeasts and molds, coliforms, Clostridium perfringens, and Staphylococcus aureus. Sensory assessment was evaluated by nine-point hedonic procedure. Results: Samples in N + P treatment showed lower PV than other treatments at the storage period with no significant difference in 2-thiobarbituric acid (TBA between N and N + P. The P group showed the highest TBA value (P < 0.01. TPC remained below maximal permissible limit recommended by ISIRI during 30 days of storage in all sausage formulations (6.9798 log CFU. There was not found any coliforms bacteria, Clostridium perfringens, and S. aureus. The sensory evaluation indicated that there is no significant difference between samples in texture, taste, and smell. The color and overall acceptability of N group were higher and N + P group was closer to N group. Conclusion: The results suggest that G. lucidum powder might be considered as a potential natural preservative for meat products.

  11. Deletion of Type 3 Adenylyl Cyclase Perturbs the Postnatal Maturation of Olfactory Sensory Neurons and Olfactory Cilium Ultrastructure in Mice.

    Science.gov (United States)

    Zhang, Zhe; Yang, Dong; Zhang, Mengdi; Zhu, Ning; Zhou, Yanfen; Storm, Daniel R; Wang, Zhenshan

    2017-01-01

    Type 3 adenylyl cyclase (Adcy3) is localized to the cilia of olfactory sensory neurons (OSNs) and is an essential component of the olfactory cyclic adenosine monophosphate (cAMP) signaling pathway. Although the role of this enzyme in odor detection and axonal projection in OSNs was previously characterized, researchers will still have to determine its function in the maturation of postnatal OSNs and olfactory cilium ultrastructure. Previous studies on newborns showed that the anatomic structure of the main olfactory epithelium (MOE) of Adcy3 knockout mice ( Adcy3 -/- ) is indistinguishable from that of their wild-type littermates ( Adcy3 +/+ ), whereas the architecture and associated composition of MOE are relatively underdeveloped at this early age. The full effects of sensory deprivation on OSNs may not also be exhibited in such age. In the present study, following a comparison of postnatal OSNs in seven-, 30-, and 90-day-old Adcy3 -/- mice and wild-type controls ( Adcy 3 +/+ ), we observed that the absence of Adcy3 leads to cumulative defects in the maturation of OSNs. Upon aging, Adcy3 -/- OSNs exhibited increase in immature cells and reduction in mature cells along with elevated apoptosis levels. The density and ultrastructure of Adcy3 -/- cilia were also disrupted in mice upon aging. Collectively, our results reveal an indispensable role of Adcy3 in postnatal maturation of OSNs and maintenance of olfactory cilium ultrastructure in mice through adulthood.

  12. Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes

    Science.gov (United States)

    Cazzato, Daniele; Castori, Marco; Lombardi, Raffaella; Caravello, Francesca; Bella, Eleonora Dalla; Petrucci, Antonio; Grammatico, Paola; Dordoni, Chiara; Colombi, Marina

    2016-01-01

    Objective: To investigate the involvement of small nerve fibers in Ehlers-Danlos syndrome (EDS). Methods: Patients diagnosed with EDS underwent clinical, neurophysiologic, and skin biopsy assessment. We recorded sensory symptoms and signs and evaluated presence and severity of neuropathic pain according to the Douleur Neuropathique 4 (DN4) and ID Pain questionnaires and the Numeric Rating Scale (NRS). Sensory action potential amplitude and conduction velocity of sural nerve was recorded. Skin biopsy was performed at distal leg and intraepidermal nerve fiber density (IENFD) obtained and referred to published sex- and age-adjusted normative reference values. Results: Our cohort included 20 adults with joint hypermobility syndrome/hypermobility EDS, 3 patients with vascular EDS, and 1 patient with classic EDS. All except one patient had neuropathic pain according to DN4 and ID Pain questionnaires and reported 7 or more symptoms at the Small Fiber Neuropathy Symptoms Inventory Questionnaire. Pain intensity was moderate (NRS ≥4 and <7) in 8 patients and severe (NRS ≥7) in 11 patients. Sural nerve conduction study was normal in all patients. All patients showed a decrease of IENFD consistent with the diagnosis of small fiber neuropathy (SFN), regardless of the EDS type. Conclusions: SFN is a common feature in adults with EDS. Skin biopsy could be considered an additional diagnostic tool to investigate pain manifestations in EDS. PMID:27306637

  13. Interaction of hyperalgesia and sensory loss in complex regional pain syndrome type I (CRPS I.

    Directory of Open Access Journals (Sweden)

    Volker Huge

    Full Text Available BACKGROUND: Sensory abnormalities are a key feature of Complex Regional Pain Syndrome (CRPS. In order to characterise these changes in patients suffering from acute or chronic CRPS I, we used Quantitative Sensory Testing (QST in comparison to an age and gender matched control group. METHODS: 61 patients presenting with CRPS I of the upper extremity and 56 healthy subjects were prospectively assessed using QST. The patients' warm and cold detection thresholds (WDT; CDT, the heat and cold pain thresholds (HPT; CPT and the occurrence of paradoxical heat sensation (PHS were observed. RESULTS: In acute CRPS I, patients showed warm and cold hyperalgesia, indicated by significant changes in HPT and CPT. WDT and CDT were significantly increased as well, indicating warm and cold hypoaesthesia. In chronic CRPS, thermal hyperalgesia declined, but CDT as well as WDT further deteriorated. Solely patients with acute CRPS displayed PHS. To a minor degree, all QST changes were also present on the contralateral limb. CONCLUSIONS: We propose three pathomechanisms of CRPS I, which follow a distinct time course: Thermal hyperalgesia, observed in acute CRPS, indicates an ongoing aseptic peripheral inflammation. Thermal hypoaesthesia, as detected in acute and chronic CRPS, signals a degeneration of A-delta and C-fibres, which further deteriorates in chronic CRPS. PHS in acute CRPS I indicates that both inflammation and degeneration are present, whilst in chronic CRPS I, the pathomechanism of degeneration dominates, signalled by the absence of PHS. The contralateral changes observed strongly suggest the involvement of the central nervous system.

  14. Effect of Ganoderma lucidum Powder on Oxidative Stability, Microbial and Sensory Properties of Emulsion Type Sausage.

    Science.gov (United States)

    Ghobadi, Runak; Mohammadi, Rasoul; Chabavizade, Javaher; Sami, Masoud

    2018-01-01

    Ganoderma lucidum from Ganodermataceae family is a kind of mushroom known to have various therapeutic properties such as lowering high blood sugar and high blood pressure, boosting the immune system as well as its antibacterial and antioxidant effects. this study investigated the oxidative stability, microbial and sensory properties of sausage at three different treatments; (i) 1% w/w Ganoderma lucidum powder (GLP) without nitrite as a food preservative (P), (ii) 0.5% w/w GLP with 80 ppm nitrite (N + P), and (iii) sausage with 120 ppm nitrate (N). Lipid oxidation was evaluated using peroxide value (PV) and thiobarbituric acid reactive species. Antimicrobial properties were assessed by total plate count (TPC), yeasts and molds, coliforms, Clostridium perfringens , and Staphylococcus aureus . Sensory assessment was evaluated by nine-point hedonic procedure. Samples in N + P treatment showed lower PV than other treatments at the storage period with no significant difference in 2-thiobarbituric acid (TBA) between N and N + P. The P group showed the highest TBA value ( P lucidum powder might be considered as a potential natural preservative for meat products.

  15. Studies on effect of oat and cheese incorporation on sensory and textural quality of short-dough type biscuit.

    Science.gov (United States)

    Swapna, K S; Rao, K Jayaraj

    2016-03-01

    In view of their growing importance in human nutrition, incorporation of oats and cheese during the manufacture of short-dough type biscuits was studied. Rolled oats were incorporated at 25, 35 and 45 % of refined wheat flour in short-dough type biscuit formulation. Cheddar and processed cheese were used for flavouring purpose at three levels each, viz. 30, 40 and 50 % on flour basis. The dough exhibited less firmness on oats incorporation as indicated by lower firmness value (21.73 N) as against 25.05 N for control dough measured by Texture Analyser. Addition of cheese to the 25 % oat incorporated dough further reduced its firmness and altered its viscoelastic characteristics. Baking conditions for the oats and cheese incorporated biscuits were optimized as 165 °C for 25-27 min. Sensory evaluation results revealed that the biscuit made from 25 % oat incorporated dough scored highest in most of the sensory attributes including overall acceptability. Cheddar cheese and processed cheese levels were optimized at 30 and 40 % in oats-incorporated dough based on the sensory analysis of biscuits prepared from the dough samples. The moisture and β- glucan contents were 3.93 % and 0.62 %; 4.32 % and 0.60 % for cheddar cheese and processed cheese added biscuits, respectively. The spread ratios were higher in cheese incorporated biscuits than in oat incorporated biscuits. It was concluded that good quality cheese flavoured biscuits can be prepared by incorporating rolled oats in biscuit formulation along with cheddar or processed cheese.

  16. Quantitative measurement of duplicated DNA as a diagnostic test for Charcot-Marie-Tooth disease type 1a

    NARCIS (Netherlands)

    Hensels, G. W.; Janssen, E. A.; Hoogendijk, J. E.; Valentijn, L. J.; Baas, F.; Bolhuis, P. A.

    1993-01-01

    Charcot-Marie-Tooth disease type 1 (CMT1) is a hereditary motor and sensory neuropathy. The autosomal dominant subtype is often linked with a large duplication on chromosome 17p11.2. The gene encoding the peripheral myelin protein PMP 22 (the critical gene in this subtype of CMT1) is located within

  17. Volatile flavor analysis and sensory evaluation of custard desserts varying in type and concentration of carboxymethyl cellulose.

    Science.gov (United States)

    van Ruth, Saskia M; de Witte, Leontien; Uriarte, Amaya Rey

    2004-12-29

    The influence of type and concentration of carboxymethyl cellulose (CMC) on flavor and textural properties of custard desserts was examined. A synthetic strawberry flavor mixture was used to flavor the custards; it comprised 15 volatile flavor compounds. The viscosity of the custards was determined using rheometric measurements. Static headspace gas chromatography and in-nose proton transfer reaction-mass spectrometry analyses were conducted to determine the custards' volatile flavor properties. Perceived odor, flavor, and textural properties were assessed in sensory analysis experiments using magnitude estimation against a fixed modulus. Both type and concentration of CMC altered the viscosity of the custards. Softer custards had higher static headspace flavor concentrations. On the contrary, firmer custards demonstrated higher in-nose flavor concentrations. In sensory analysis, firmer custards showed higher thickness and lower sweetness intensities than their low-viscosity counterparts. The thickness perception corresponded to the viscosity of the custards. Removal of sucrose from the custards affected sweetness intensity only and not the intensity of other attributes. Therefore, the influence of the viscosity of the custards on the release of sweet-tasting components is held responsible for the effect on perceived sweetness intensity. Odor intensities were generally higher for the low-viscosity custard, whereas fruity flavor intensities were higher for the firmer custards. Odor intensities correlated with static headspace concentrations and flavor intensities related reasonably well with in-nose concentrations. Opening and closing of the nasal cavity is regarded as an important factor determining the discrepancy between static and in-nose measurements.

  18. Diabetic peripheral neuropathy in ambulatory patients with type 2 diabetes in a general hospital in a middle income country: a cross-sectional study.

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    María de Los Angeles Lazo

    Full Text Available AIM: We aimed to estimate the morbidity rate and associated factors for diabetic peripheral neuropathy (DPN in a low-middle income country setting. METHODS: Cross-sectional study, data was gathered at Peru's Ministry of Health national specialized hospital for endocrinological conditions through standardized interviews, anthropometric measurements and blood tests for glycated haemoglobin (HbA1c. DPN was evaluated using two techniques: the Semmes-Weinstein monofilament test and the diabetic neuropathy symptom score. Overall prevalence and 95% confidence intervals (95% CI were calculated. Potential factors related to DPN explored included body mass index, years with disease (<10 vs. ≥10 years, glycaemic control (HbA1c <7% vs. ≥7%, microalbuminuria, retinopathy, and current pharmacological treatment. Multivariable analysis was performed using Poisson analysis to calculate prevalence ratios. RESULTS: DPN was observed in 73/129 (56.6% patients. In multivariable analysis adjusted by age and sex, the prevalence ratio of neuropathy was 1.4 times higher (95% CI 1.07-1.88 in patients who took insulin plus metformin compared to patients who used one treatment alone, and 1.4 higher (95% CI 1.02-1.93 in patients with ≥10 years of disease compared to those with a shorter duration of disease. Also we found some characteristics in foot evaluation associated to neuropathy such as deformities (p<0.001, onychomycosis (p = 0.012, abnormal Achilles reflex (p<0.001, pain perception (p<0.001 and vibration perception (p<0.001. CONCLUSION: DPN is highly frequent among patients with diabetes in a national specialized facility from Peru. Associated factors to DPN included being a diabetic patient for over ten years, and receiving insulin plus metformin.

  19. Connectivity from OR37 expressing olfactory sensory neurons to distinct cell types in the hypothalamus

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    Andrea eBader

    2012-11-01

    Full Text Available Olfactory sensory neurons which express a member from the OR37 subfamily of odorant receptor genes are wired to the main olfactory bulb in a unique monoglomerular fashion; from these glomeruli an untypical connectivity into higher brain centers exists. In the present study we have investigated by DiI and transsynaptic tracing approaches how the connection pattern from these glomeruli into distinct hypothalamic nuclei is organized. The application of DiI onto the ventral domain of the bulb which harbors the OR37 glomeruli resulted in the labeling of fibers within the paraventricular and supraoptic nucleus of the hypothalamus; some of these fibers were covered with varicose-like structures. No DiI-labeled cell somata were detectable in these nuclei. The data indicate that projection neurons which originate in the OR37 region of the main olfactory bulb form direct connections into these nuclei. The cells that were labeled by the transsynaptic tracer WGA in these nuclei were further characterized. Their distribution pattern in the paraventricular nucleus was reminiscent of cells which produce distinct neuropeptides. Double labeling experiments confirmed that they contained vasopressin, but not the related neuropeptide oxytocin. Morphological analysis revealed that they comprise of magno- and parvocellular cells. A comparative investigation of the WGA-positive cells in the supraoptic nucleus demonstrated that these were vasopressin-positive, as well, whereas oxytocin-producing cells of this nucleus also contained no transsynaptic tracer. Together, the data demonstrate a connectivity from OR37 expressing sensory neurons to distinct hypothalamic neurons with the same neuropeptide content.

  20. Glucose control and diabetic neuropathy: lessons from recent large clinical trials.

    Science.gov (United States)

    Ang, Lynn; Jaiswal, Mamta; Martin, Catherine; Pop-Busui, Rodica

    2014-01-01

    Diabetic peripheral and autonomic neuropathies are common complications of diabetes with broad spectrums of clinical manifestations and high morbidity. Studies using various agents to target the pathways implicated in the development and progression of diabetic neuropathy were promising in animal models. In humans, however, randomized controlled studies have failed to show efficacy on objective measures of neuropathy. The complex anatomy of the peripheral and autonomic nervous systems, the multitude of pathogenic mechanisms involved, and the lack of uniformity of neuropathy measures have likely contributed to these failures. To date, tight glycemic control is the only strategy convincingly shown to prevent or delay the development of neuropathy in patients with type 1 diabetes and to slow the progression of neuropathy in some patients with type 2 diabetes. Lessons learned about the role of glycemic control on distal symmetrical polyneuropathy and cardiovascular autonomic neuropathy are discussed in this review.

  1. [Autonomic peripheral neuropathy].

    Science.gov (United States)

    Adams, David; Cauquil, Cecile; Lozeron, Pierre

    2012-11-01

    The mechanisms of dysautonomic disturbances are varied and mostly acquired. They can result from lesions of sympathetic or parasympathetic vegetative fibers located in the peripheral contingent, or in the somatic contingent by demyelination or axonal loss; or more rarely by cellular bodies in the sympathetic or parasympathetic ganglia. Several chronic peripheral neuropathies can be associated with dysautonomia. Only some causes need to be known because they can be clinically significant. Dysautonomia may be seen during chronic acquired neuropathies but also acute or subacute ones. The most frequent cause in the world is the dysautonomia of the diabetes; it affects all the systems; the cardiovascular dysfunction has an impact on the prognosis for survival when it is severe. Hereditary autonomic neuropathies are rare; they can declare themselves very early during the Riley-Day syndrome or very late during amyloid polyneuropathies due to transthyretin gene mutation. The diagnosis can be confirmed by molecular biology. The dysautonomia is frequent and often severe. These neuropathies justify symptomatic treatment to improve quality of life. For some of them, a specific treatment can be proposed to treat the causal affection to try to stop the progression of the disease. Copyright © 2012. Published by Elsevier Masson SAS.

  2. [Idiopathic autonomic neuropathy (pandysautonomia)].

    Science.gov (United States)

    Jankowicz, E; Drozdowski, W; Pogumirski, J

    2001-01-01

    On the basis of current literature, clinical and neuropathologic features of idiopathic autonomic neuropathy is presented. Idiopathic autonomic neuropathy is a disease characterized by acute or subacute onset, monophasic course over a period of several years, it is often preceded by an infection. The spectrum of autonomic changes ranges from cholinergic or adrenergic dysfunction to pandysautonomia, leading to heterogeneity of its clinical features. Possible sympathetic system abnormalities found in autonomic neuropathy are: poor pupillary response to light in darkness, orthostatic hypotension leading to syncope, hypotension without compensatory tachycardia, ejaculation disturbances and vasomotor instability. Possible parasympathetic dysfunctions are: salivation and lacrimation disturbances, absent pupillary constriction to light and near gaze, gastrointestinal tract immobility and impairment of gastrointestinal function, atonic bladder with large residual volume, erectile impotence. Pandysautonomia is thought to result from an immune mediated mechanism and responds well to plasmaferesis and intravenous immunoglobin therapy leading to gradual, sometimes not full, recovery. Moreover in this article we pay attention to the clinical value of many tests like cardiovascular or pharmacological studies in the diagnosis of pandysautonomia and in differentiation of pre- and postganglionic changes. In order to diagnose idiopathic autonomic neuropathy one has to rule out a large number of diseases with autonomic dysfunction e.g.: diabetes, malignant neoplasms, acute intermittent porphyria, Shy-Drager syndrome, Riley-Day's dysautonomia, Parkinson's disease, amyloidosis and others.

  3. Verrucous lesions arising in lymphedema and diabetic neuropathy: Elephantiasis nostras verrucosa or verrucous skin lesions on the feet of patients with diabetic neuropathy?

    Science.gov (United States)

    Hotta, Eri; Asai, Jun; Okuzawa, Yasutaro; Hanada, Keiji; Nomiyama, Tomoko; Takenaka, Hideya; Katoh, Norito

    2016-03-01

    Verrucous skin lesions on the feet in diabetic neuropathy (VSLDN) develop in areas with sensory loss in diabetic patients. Although various types of chronic stimulation, such as pressure or friction, are considered an important factor in the development of such lesions, the precise pathogenesis of VSLDN remains obscure, and there is currently no established treatment for this disease. Here, we present a case of VSLDN on the dorsum of the right foot. However, because lymphedema was also observed at the same site, this lesion could also be diagnosed as elephantiasis nostras verrucosa arising in diabetic neuropathy. The lesion was successfully treated with a combination of elastic stocking and mixed killed bacterial suspension and hydrocortisone ointment, which suggested that VSLDN might have been exacerbated by the pre-existing lymphedema. Because various types of chronic stimulation can trigger VSLDN, treatment plans should be devised on a case-by-case basis. Therefore, it is important to investigate the presence of factors that can induce or exacerbate chronic inflammatory stimulation, such as lymphedema in our case, in each patient with VSLDN. © 2015 Japanese Dermatological Association.

  4. Definition and diagnosis of small fiber neuropathy: consensus from the Peripheral Neuropathy Scientific Department of the Brazilian Academy of Neurology

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    Francisco de Assis Aquino Gondim

    Full Text Available ABSTRACT The aim of this study was to describe the results of a Brazilian Consensus on Small Fiber Neuropathy (SFN. Fifteen neurologists (members of the Brazilian Academy of Neurology reviewed a preliminary draft. Eleven panelists got together in the city of Fortaleza to discuss and finish the text for the manuscript submission. Small fiber neuropathy can be defined as a subtype of neuropathy characterized by selective involvement of unmyelinated or thinly myelinated sensory fibers. Its clinical picture includes both negative and positive manifestations: sensory (pain/dysesthesias/pruritus or combined sensory and autonomic complaints, associated with an almost entirely normal neurological examination. Standard electromyography is normal. A growing list of medical conditions is associated with SFN. The classification of SFN may also serve as a useful terminology to uncover minor discrepancies in the normal values from different neurophysiology laboratories. Several techniques may disclose sensory and/or autonomic impairment. Further studies are necessary to refine these techniques and develop specific therapies.

  5. status and insulin resistance in diabetic peripheral neuropathy

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    Taslima Akter

    2016-12-01

    Full Text Available Background: Complication of diabetes mellitus includes peripheral neuropathy which causes ischemic foot ulceration. Hyperglycemia and insulin resistance may accelerate the development of diabetic peripheral neuropathy. Objective: To assess the glycaemic status and insulin resistance for development of peripheral neuropathy in type 2 diabetes mellitus. Methods: This control case control study was conducted in the Department of Physiology, Dhaka Medical College, Dhaka from July 2014 to June 2015. A total number of 150 Type 2 diabetic patients of both sexes were selected with age ranging 40 to 50 years. Among them, 75 patients with peripheral neuropathy were included in study group and 75 patients without peripheral neuropathy were control. For evaluation of glycaemic status, fasting serum glucose (FSG, Glycosylated hemoglobin (HbA1c and to calculate insulin resistance by homeostatic model assessment for insulin resistance (HOMA-IR, fasting serum insulin (FSI, were estimated. For statistical analysis, unpaired Student’s ‘t’ test was done. Results: In this study, significant increase in FSG, HbA1c, FSI, HOMA-IR were found in diabetic subjects with peripheral neuropathy in comparison to control group. Conclusion: From the study results, it is concluded that poor glycaemic control and greater insulin resistance may be associated with diabetic peripheral neuropathy.

  6. Low Levels of NDRG1 in Nerve Tissue Are Predictive of Severe Paclitaxel-Induced Neuropathy

    OpenAIRE

    Sundar, Raghav; Jeyasekharan, Anand D.; Pang, Brendan; Soong, Richie Chuan Teck; Kumarakulasinghe, Nesaretnam Barr; Ow, Samuel Guan Wei; Ho, Jingshan; Lim, Joline Si Jing; Tan, David Shao Peng; Wilder-Smith, Einar P. V.; Bandla, Aishwarya; Tan, Stacey Sze Hui; Asuncion, Bernadette Reyna; Fazreen, Zul; Hoppe, Michal Marek

    2016-01-01

    Introduction Sensory peripheral neuropathy caused by paclitaxel is a common and dose limiting toxicity, for which there are currently no validated predictive biomarkers. We investigated the relationship between the Charcot-Marie-Tooth protein NDRG1 and paclitaxel-induced neuropathy. Methods/Materials Archived mammary tissue specimen blocks of breast cancer patients who received weekly paclitaxel in a single centre were retrieved and NDRG1 immunohistochemistry was performed on normal nerve tis...

  7. A clinical and electrophysiological study of peripheral neuropathies in predialysis chronic kidney disease patients and relation of severity of peripheral neuropathy with degree of renal failure

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    Dushyanth Babu Jasti

    2017-01-01

    Full Text Available Objective: To study the prevalence, clinical features, electrophysiological features, and severity of peripheral neuropathy in predialysis chronic kidney disease (CKD patients with respect to severity of renal failure and presence of diabetes mellitus. Materials and Methods: Between May 2015 and December 2016, 200 predialysis CKD patients were assessed prospectively. Results: The prevalence of peripheral neuropathy in predialysis CKD patients in the present study was 45% based on clinical symptoms and 90% electrophysiologically. Mean age of 200 predialysis CKD patients who participated in the study was 53.2 ± 13.2 years. One hundred and thirty-six (68% patients were male and 64 (32% patients were female. Mean duration of disease was 2.2 ± 1.6 years. Nearly 45% patients of patients had asymptomatic peripheral neuropathy in the present study, which was more common in mild-to-moderate renal failure group. One hundred twenty-six patients (63% had definite damage and 54 patients (27% had early damage. In mild-to-moderate renal failure (n = 100 and severe renal failure patients (n = 100, 88% and 92% had significant peripheral neuropathy, respectively. Most common nerves involved were sural nerve, median sensory nerve, and ulnar sensory nerve. Diabetic patients (97% showed more severe and high prevalence of peripheral neuropathy when compared to nondiabetic patients (83%. Most common patterns were pure axonal sensorimotor neuropathy and mixed sensorimotor neuropathy. Conclusion: Peripheral neuropathy is common in predialysis patients, prevalence and severity of which increases as renal failure worsens. Predialysis patients with diabetes show higher prevalence and severity of peripheral neuropathy when compared with nondiabetics.

  8. The role of serum methylglyoxal on diabetic peripheral and cardiovascular autonomic neuropathy

    DEFF Research Database (Denmark)

    Hansen, C. S.; Jensen, T.M.; Jensen, J S

    2015-01-01

    -detected Type 2 diabetes (duration ~ 5.8 years). METHODS: The patients were well controlled with regard to HbA(1c), lipids and blood pressure. Cardiovascular autonomic neuropathy was assessed by measures of resting heart rate variability and cardiovascular autonomic reflex tests. Diabetic peripheral neuropathy...... and cardiovascular autonomic reflex tests or any measures of diabetic peripheral neuropathy or painful diabetic neuropathy were observed. However, a positive association between methylglyoxal and several heart rate variability indices was observed, although these associations were not statistically significant when......AIMS: Cardiovascular autonomic neuropathy and diabetic peripheral neuropathy are common diabetic complications and independent predictors of cardiovascular disease. The glucose metabolite methylglyoxal has been suggested to play a causal role in the pathogeneses of diabetic peripheral neuropathy...

  9. Heterogeneity in diabetic distal neuropathy and differential approach to its treatment

    Directory of Open Access Journals (Sweden)

    O E Khutornaya

    2013-06-01

    Full Text Available Aims. To determine the prevalence of painful diabetic neuropathy (PDN, to evaluate the composition and efficacy of pharmacotherapy and to develop a differential algorithm for symptomatic treatment of PDN.Materials and Methods. 4494 outpatient subjects participated in this study. Severity of pain syndrome was assessed with DN4 question- naire (supplemented with NTSS-9 scale and visual analogue scale (VAS. After initial examination, a pharmacological evaluation of treatment was performed.Results. Based on our data, prevalence of diabetic neuropathy was estimated at 54%, with painful form reaching 6.4%. Median age was 57.2±12.1, duration of diabetes mellitus – 16.5±10.6 years. Type 1 / type 2 ratio equaled 32.4% : 67.6%, male/female – 29.7%: 70.3%. Median HbA1c level was 8.4±1.6%. Ratio of chronic/acute forms of neuropathy was 267 : 20. Pain severity (as measured by VAS distribution was as following: 15.6% – severe, 40.6% – moderate, 12.3% – mild, and 31.3% – no pain symptoms. We did not find PDN to be associated with any parameters but sensory deficit (NTSS-9 and NDS: r=0.4; p <0.001. 21% of patients with chronic painful neuropathy (CPN demonstrated allodynia and hyperalgesia besides typical symptoms. 97.9% of patients were previ- ously treated with “pathogenetic” agents, 2.1% received anticonvulsants; overall efficiency was estimated at 22%. Patients with CPN and allodynia did not respond to treatment with alpha-lipoic acid (ALA, but pregabalin was efficient. After the examination treatment composition was adjusted as follows: treatment was ceased in 23% of patients, 11.9% received ALA, 53.6% – anticonvulsants, and11.5% – antidepressants; overall efficiency was estimated at 75%.Conclusion. Prevalence of PDN is relatively low. 15.6% of patients suffer from severe pain. Neuropathic pain intensity correlates only with sensory deficit and is not dependent on any other parameters. CPN consists of two forms with higher and lower

  10. Acute Motor Axonal Neuropathy in Association with Hepatitis E

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    Araz Al-Saffar

    2018-02-01

    Full Text Available Guillain–Barré syndrome (GBS is an acute peripheral neuropathy that develops as a result of post-infectious immune-mediated nerve injury. It can be classified into classic and variant GBS. Acute motor axonal neuropathy (AMAN is a subtype of GBS with the key clinical features of pure motor weakness, areflexia, absence of sensory symptoms, and lack of neurophysiologic evidence of demyelination. We reported a case of acute motor axonal neuropathy in association with hepatitis E infection. A young woman was referred to us after a period of nausea, fever, and diarrhea. She had unexplained muscle weakness at admission and has been diagnosed with acute hepatitis E infection. A rigorous clinical neurological assessment revealed bilateral symmetrical weakness, which affects the lower limbs more than the upper limbs, with no evidence of sensory involvement. Neurophysiological measurements indicated acute axonal injury without clues to demyelination. A diagnosis of acute motor axonal neuropathy subtype has been made, to which she only received supportive therapy. The symptoms resolved spontaneously and full recovery of motor function was attained after 35 days of weakness onset with complete normalization of neurophysiologic parameters.

  11. Palm to Finger Ulnar Sensory Nerve Conduction.

    Science.gov (United States)

    Davidowich, Eduardo; Nascimento, Osvaldo J M; Orsini, Marco; Pupe, Camila; Pessoa, Bruno; Bittar, Caroline; Pires, Karina Lebeis; Bruno, Carlos; Coutinho, Bruno Mattos; de Souza, Olivia Gameiro; Ribeiro, Pedro; Velasques, Bruna; Bittencourt, Juliana; Teixeira, Silmar; Bastos, Victor Hugo

    2015-12-29

    Ulnar neuropathy at the wrist (UNW) is rare, and always challenging to localize. To increase the sensitivity and specificity of the diagnosis of UNW many authors advocate the stimulation of the ulnar nerve (UN) in the segment of the wrist and palm. The focus of this paper is to present a modified and simplified technique of sensory nerve conduction (SNC) of the UN in the wrist and palm segments and demonstrate the validity of this technique in the study of five cases of type III UNW. The SNC of UN was performed antidromically with fifth finger ring recording electrodes. The UN was stimulated 14 cm proximal to the active electrode (the standard way) and 7 cm proximal to the active electrode. The normal data from amplitude and conduction velocity (CV) ratios between the palm to finger and wrist to finger segments were obtained. Normal amplitude ratio was 1.4 to 0.76. Normal CV ratio was 0.8 to 1.23.We found evidences of abnormal SNAP amplitude ratio or substantial slowing of UN sensory fibers across the wrist in 5 of the 5 patients with electrophysiological-definite type III UNW.

  12. Palm to finger ulnar sensory nerve conduction

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    Eduardo Davidowich

    2015-12-01

    Full Text Available Ulnar neuropathy at the wrist (UNW is rare, and always challenging to localize. To increase the sensitivity and specificity of the diagnosis of UNW many authors advocate the stimulation of the ulnar nerve (UN in the segment of the wrist and palm. The focus of this paper is to present a modified and simplified technique of sensory nerve conduction (SNC of the UN in the wrist and palm segments and demonstrate the validity of this technique in the study of five cases of type III UNW. The SNC of UN was performed antidromically with fifth finger ring recording electrodes. The UN was stimulated 14 cm proximal to the active electrode (the standard way and 7 cm proximal to the active electrode. The normal data from amplitude and conduction velocity (CV ratios between the palm to finger and wrist to finger segments were obtained. Normal amplitude ratio was 1.4 to 0.76. Normal CV ratio was 0.8 to 1.23.We found evidences of abnormal SNAP amplitude ratio or substantial slowing of UN sensory fibers across the wrist in 5 of the 5 patients with electrophysiological-definite type III UNW.

  13. Peripheral nerves are pathologically small in cerebellar ataxia neuropathy vestibular areflexia syndrome: a controlled ultrasound study.

    Science.gov (United States)

    Pelosi, L; Mulroy, E; Leadbetter, R; Kilfoyle, D; Chancellor, A M; Mossman, S; Wing, L; Wu, T Y; Roxburgh, R H

    2018-04-01

    Sensory neuronopathy is a cardinal feature of cerebellar ataxia neuropathy vestibular areflexia syndrome (CANVAS). Having observed that two patients with CANVAS had small median and ulnar nerves on ultrasound, we set out to examine this finding systematically in a cohort of patients with CANVAS, and compare them with both healthy controls and a cohort of patients with axonal neuropathy. We have previously reported preliminary findings in seven of these patients with CANVAS and seven healthy controls. We compared the ultrasound cross-sectional area of median, ulnar, sural and tibial nerves of 14 patients with CANVAS with 14 healthy controls and 14 age- and gender-matched patients with acquired primarily axonal neuropathy. We also compared the individual nerve cross-sectional areas of patients with CANVAS and neuropathy with the reference values of our laboratory control population. The nerve cross-sectional area of patients with CANVAS was smaller than that of both the healthy controls and the neuropathy controls, with highly significant differences at most sites (P CANVAS. Small nerves in CANVAS probably reflect nerve thinning from loss of axons due to ganglion cell loss. This is distinct from the ultrasound findings in axonal neuropathy, in which nerve size was either normal or enlarged. Our findings indicate a diagnostic role for ultrasound in CANVAS sensory neuronopathy and in differentiating neuronopathy from neuropathy. © 2018 EAN.

  14. A dietary intervention for chronic diabetic neuropathy pain: a randomized controlled pilot study

    OpenAIRE

    Bunner, A E; Wells, C L; Gonzales, J; Agarwal, U; Bayat, E; Barnard, N D

    2015-01-01

    Background: Diabetic neuropathy is a common and often debilitating condition for which available treatments are limited. Because a low-fat plant-based diet has been shown to improve glycemic control in individuals with type 2 diabetes, we hypothesized that such a diet would reduce painful symptoms of diabetic neuropathy. Methods: In this 20-week pilot study, individuals with type 2 diabetes and painful diabetic neuropathy were randomly assigned to two groups. The intervention group was asked ...

  15. Glycoconjugates as target antigens in peripheral neuropathies

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    Ljubica Suturkova

    2014-12-01

    Full Text Available Identification and characterization of antigens present at the human peripheral nerve is a great challenge in the field of neuroimmunology. The latest investigations are focused on the understanding of the biology of glycoconjugates present at the peripheral nerve, and their immunological reactivity. Increased titers of antibodies that recognize carbohydrate determinants of glycoconjugates (glycolipids and glycoproteins are associated with distinct neuropathic syndromes. There is considerable cross-reactivity among anti-ganglioside antibodies, resulting from shared oligosaccharide epitopes, possibly explaining the overlap in syndromes observed in many affected patients. Sera from patients with neuropathies (GBS, chronic inflammatory demielynating polyneuropathy - CIDP, multifocal motor neuropathy - MMN, cross-react with glycoproteins isolated from human peripheral nerve and from Campylobacter jejuni O:19. The frequency of occurrence of antibodies against these glycoproteins is different, depending of the type of neuropathy. Identification of the cross-reactive glycoproteins and possible additional auto antigens could be useful in laboratory evaluation of peripheral neuropathies and help to develop a more effective therapeutic approach.

  16. A combined approach to decrease the technological and sensory defects caused by fat and sodium reduction in Bologna-type sausages.

    Science.gov (United States)

    Campagnol, Paulo Cezar Bastianello; Dos Santos, Bibiana Alves; Lorenzo, José Manuel; Cichoski, Alexandre José

    2017-09-01

    The effect of the addition of fructooligosaccharides, transglutaminase, disodium inosinate, and disodium guanylate on some technological and sensory parameters of low-fat and low-salt Bologna-type sausages was evaluated. In the first experiment, sausages with a 25% and 50% fat reduction containing 0, 3%, or 6% fructooligosaccharides were manufactured. Fat reduction adversely affected the emulsion stability, hardness, and sensory properties; however, the addition of 6% fructooligosaccharides reduced the loss of quality associated with a lower fat content. In the second experiment, sausages with a 50% fat reduction containing 6% fructooligosaccharides were produced. Additionally, the salt content was reduced by 50% and transglutaminase, disodium inosinate, and disodium guanylate were added. The combination of transglutaminase (1%), disodium inosinate (0.03%), and disodium guanylate (0.03%) was efficient to supress the technological and sensory defects caused by NaCl reduction in low-fat Bologna-type sausages.

  17. Macrophage-to-sensory neuron crosstalk mediated by Angiotensin II type-2 receptor elicits neuropathic pain

    OpenAIRE

    Krause, Eric; Shepherd, Andrew; Mickle, Aaron; Copits, Bryan; Karlsson, Pall; Kadunganattil, Suraj; Golden, Judith; Tadinada, Satya; Mack, Madison; Haroutounian, Simon; De Kloet, Annette; Samineni, Vijay; Valtcheva, Manouela; Mcilvried, Lisa; Sheahan, Tayler

    2017-01-01

    Peripheral nerve damage initiates a complex series of cellular and structural processes that culminate in chronic neuropathic pain. Our study defines local angiotensin signaling via activation of the Angiotensin II (Ang II) type-2 receptor (AT2R) on macrophages as the critical trigger of neuropathic pain. An AT2R-selective antagonist attenuates neuropathic, but not inflammatory pain hypersensitivity in mice, and requires the cell damage-sensing ion channel transient receptor potential family-...

  18. Unipotent progenitors contribute to the generation of sensory cell types in the nervous system of the cnidarian Nematostella vectensis.

    Science.gov (United States)

    Busengdal, Henriette; Rentzsch, Fabian

    2017-11-01

    Nervous systems often consist of a large number of different types of neurons which are generated from neural stem and progenitor cells by a series of symmetric and asymmetric divisions. The origin and early evolution of these neural progenitor systems is not well understood. Here we use a cnidarian model organism, Nematostella vectensis, to gain insight into the generation of neural cell type diversity in a non-bilaterian animal. We identify NvFoxQ2d as a transcription factor that is expressed in a population of spatially restricted, proliferating ectodermal cells that are derived from NvSoxB(2)-expressing neural progenitor cells. Using a transgenic reporter line we show that the NvFoxQ2d cells undergo a terminal, symmetric division to generate a morphologically homogeneous population of putative sensory cells. The abundance of these cells, but not their proliferation status is affected by treatment with the γ-secretase inhibitor DAPT, suggesting regulation by Notch signalling. Our data suggest that intermediate progenitor cells and symmetric divisions contribute to the formation of the seemingly simple nervous system of a sea anemone. Copyright © 2017 Elsevier Inc. All rights reserved.

  19. Immunohistochemical localization of two types of choline acetyltransferase in neurons and sensory cells of the octopus arm.

    Science.gov (United States)

    Sakaue, Yuko; Bellier, Jean-Pierre; Kimura, Shin; D'Este, Loredana; Takeuchi, Yoshihiro; Kimura, Hiroshi

    2014-01-01

    Cholinergic structures in the arm of the cephalopod Octopus vulgaris were studied by immunohistochemistry using specific antisera for two types (common and peripheral) of acetylcholine synthetic enzyme choline acetyltransferase (ChAT): antiserum raised against the rat common type ChAT (cChAT), which is cross-reactive with molluscan cChAT, and antiserum raised against the rat peripheral type ChAT (pChAT), which has been used to delineate peripheral cholinergic structures in vertebrates, but not previously in invertebrates. Western blot analysis of octopus extracts revealed a single pChAT-positive band, suggesting that pChAT antiserum is cross-reactive with an octopus counterpart of rat pChAT. In immunohistochemistry, only neuronal structures of the octopus arm were stained by cChAT and pChAT antisera, although the pattern of distribution clearly differed between the two antisera. cChAT-positive varicose nerve fibers were observed in both the cerebrobrachial tract and neuropil of the axial nerve cord, while pChAT-positive varicose fibers were detected only in the neuropil of the axial nerve cord. After epitope retrieval, pChAT-positive neuronal cells and their processes became visible in all ganglia of the arm, including the axial and intramuscular nerve cords, and in ganglia of suckers. Moreover, pChAT-positive structures also became detectable in nerve fibers connecting the different ganglia, in smooth nerve fibers among muscle layers and dermal connective tissues, and in sensory cells of the suckers. These results suggest that the octopus arm has two types of cholinergic nerves: cChAT-positive nerves from brain ganglia and pChAT-positive nerves that are intrinsic to the arm.

  20. Drug-induced peripheral neuropathy

    DEFF Research Database (Denmark)

    Vilholm, Ole Jakob; Christensen, Alex Alban; Zedan, Ahmed

    2014-01-01

    Peripheral neuropathy can be caused by medication, and various descriptions have been applied for this condition. In this MiniReview, the term 'drug-induced peripheral neuropathy' (DIPN) is used with the suggested definition: Damage to nerves of the peripheral nervous system caused by a chemical ...

  1. Morphologic Changes in Autonomic Nerves in Diabetic Autonomic Neuropathy

    Directory of Open Access Journals (Sweden)

    Heung Yong Jin

    2015-12-01

    Full Text Available Diabetic neuropathy is one of the major complications of diabetes, and it increases morbidity and mortality in patients with both type 1 diabetes mellitus (T1DM and type 2 diabetes mellitus (T2DM. Because the autonomic nervous system, for example, parasympathetic axons, has a diffuse and wide distribution, we do not know the morphological changes that occur in autonomic neural control and their exact mechanisms in diabetic patients with diabetic autonomic neuropathy (DAN. Although the prevalence of sympathetic and parasympathetic neuropathy is similar in T1DM versus T2DM patients, sympathetic nerve function correlates with parasympathetic neuropathy only in T1DM patients. The explanation for these discrepancies might be that parasympathetic nerve function was more severely affected among T2DM patients. As parasympathetic nerve damage seems to be more advanced than sympathetic nerve damage, it might be that parasympathetic neuropathy precedes sympathetic neuropathy in T2DM, which was Ewing's concept. This could be explained by the intrinsic morphologic difference. Therefore, the morphological changes in the sympathetic and parasympathetic nerves of involved organs in T1DM and T2DM patients who have DAN should be evaluated. In this review, evaluation methods for morphological changes in the epidermal nerves of skin, and the intrinsic nerves of the stomach will be discussed.

  2. [Vasculitic Peripheral Neuropathies: Clinical Features and Diagnostic Laboratory Tests].

    Science.gov (United States)

    Ogata, Katsuhisa

    2016-03-01

    Vasculitic peripheral neuropathy (VPN) occurs due to ischemic changes of peripheral nerves, resulting from a deficit of vascular blood supply due to damaged vasa nervorum leading to vasculitis. VPN usually manifests as sensorimotor or sensory disturbances accompanied by pain, presenting as a type of multiple mononeuropathy, with a scattered distribution in distal limbs. VPN may also present as a mononeuropathy, distal symmetric polyneuropathy, plexopathy, or radiculopathy. The rapidity of VPN is variable, ranging from days to months, with symptoms occasionally changing with the appearance of new lesions. Careful history taking and neurological examination provides an exact diagnosis. The most common cause of VPN is primary vasculitis predominantly affecting small vessels, including vasa nervorum, anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis, and polyarteritis nodosa. Similar vasculitic processes can also result from a systemic collagen disorder or secondary vasculitis. Electrophysiological studies and pathological investigation of biopsied peripheral nerves and muscles are important for diagnosis of vasculitis. Serological tests, including ANCA, are useful for diagnosis of vasculitis. Accurate neurological examinations are essential for diagnosis and evaluation of clinical course.

  3. Daspsone Induced Peripheral Neuropathy

    Directory of Open Access Journals (Sweden)

    P A Sarojini

    1988-01-01

    Full Text Available A 24 year old lady being treated with 300 mg of dapsone daily for dermatitits herpetiformis, developed weakness and wasting of muscles of feet with claw hand deformity and t drop, 2 months tater. Neurological examination and nerve conduction studies conformed the presence of a peripheral motor neuropathy. Dapsone was discontinued and the patient was treated with cotrimatoxazole, gluten-free diet and supportive therapy. This satisfactorily controlled the dermatological lesion without adversely affecting the resolution of her neuropthy. Symptomatic improvement reported by the patient was confirmed by EMG and nerve conduction studies.

  4. Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy

    NARCIS (Netherlands)

    Claeys, Kristl G.; Züchner, Stephan; Kennerson, Marina; Berciano, José; Garcia, Antonio; Verhoeven, Kristien; Storey, Elsdon; Merory, John R.; Bienfait, Henriette M. E.; Lammens, Martin; Nelis, Eva; Baets, Jonathan; de Vriendt, Els; Berneman, Zwi N.; de Veuster, Ilse; Vance, Jefferey M.; Nicholson, Garth; Timmerman, Vincent; de Jonghe, Peter

    2009-01-01

    Dominant intermediate Charcot-Marie-Tooth neuropathy type B is caused by mutations in dynamin 2. We studied the clinical, haematological, electrophysiological and sural nerve biopsy findings in 34 patients belonging to six unrelated dominant intermediate Charcot-Marie-Tooth neuropathy type B

  5. Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.

    NARCIS (Netherlands)

    Claeys, K.G.; Zuchner, S.; Kennerson, M.; Berciano, J.; Garcia, A.; Verhoeven, K.; Storey, E.; Merory, J.R.; Bienfait, H.M.; Lammens, M.M.Y.; Nelis, E.; Baets, J.; Vriendt, E. De; Berneman, Z.N.; Veuster, I. De; Vance, J.M.; Nicholson, G.; Timmerman, V.; Jonghe, P. de

    2009-01-01

    Dominant intermediate Charcot-Marie-Tooth neuropathy type B is caused by mutations in dynamin 2. We studied the clinical, haematological, electrophysiological and sural nerve biopsy findings in 34 patients belonging to six unrelated dominant intermediate Charcot-Marie-Tooth neuropathy type B

  6. The influence of peeling and type of drying on chemical and sensorial analysis of organic coffee

    Directory of Open Access Journals (Sweden)

    Maria de Fátima Caixeta Fernandes

    2014-06-01

    Full Text Available Organic coffee is characterized by being produced without the use of chemical products and by having a similar or superior quality in comparison to that of coffee produced by traditional methods. The production of organic coffee does not include the use of highly soluble nutrients, which makes consumers concerned with environmental issues and healthy eating habits realize its true value. This paper aims to analyze the influence of harvesting, peeling and drying on the quality of organic coffee, in order to present the best way of producing high quality coffee. Samples of organic coffee were harvested by both conventional and selective ways, and some were peeled. They were then dried on concrete patio and on suspended terraces. The beans were analyzed for potassium leaching, electrical conductivity, titratable acidity, and submitted to coffee cupping-test. The results obtained indicated that the selective harvesting of the peeled or unpeeled cherry coffee dried on concrete terrace is feasible for production of fine coffees. This type of processing effectively influenced the final quality of the organic coffee, thus being an alternative to improve the quality and market value of the product, especially for small producers, cooperatives, and associations of coffee producers.

  7. Effects of adding red wine on the physicochemical properties and sensory characteristics of uncured frankfurter-type sausage.

    Science.gov (United States)

    Feng, Xi; Sebranek, Joseph G; Lee, Hyun Yong; Ahn, Dong Uk

    2016-11-01

    The aim of this work was to evaluate the quality and sensory characteristics of RTE frankfurter-type sausage cured with celery juice powder and including red wine. Four frankfurter treatments including a conventionally cured treatment without red wine (control) and three treatments cured with pre-converted vegetable juice powder and 0%, 5% or 10% (v/w) red wine were prepared. Results showed that adding 5% red wine increased the a*-value, and the textural resilience, cohesiveness and springiness of the frankfurters, as well as decreased lipid/protein oxidation of the final products. Added wine also introduced new volatiles (alcohol and ester compounds) to the frankfurters. The principal component (PC) analysis showed that the pre-converted vegetable juice powder achieved the same effects as the conventional curing agents for typical frankfurter properties. However, the addition of excess amounts of red wine (10%) to the meat batter decreased the pH of meat batter and accelerated lipid oxidation. Copyright © 2016 Elsevier Ltd. All rights reserved.

  8. Role of sonography in the diagnosis of the most common peripheral neuropathies

    Directory of Open Access Journals (Sweden)

    Berta Kowalska

    2014-06-01

    Full Text Available In the practice of a general practitioner, the most common peripheral neuropathy reported by patients is carpal tunnel syndrome followed by cubital tunnel syndrome. Carpal tunnel syndrome results from entrapment of the median nerve at the level of the transverse carpal ligament, and cubital tunnel syndrome is a consequence of a compression on the ulnar nerve at the level of the groove of the humerus. The diagnosis of these syndromes is based on a specific interview, clinical examination and additional examinations. The aim of a clinical examination is to assess sensory disorders and muscle atrophy. Until today, standard additional examinations have been electrophysiological tests. At present, however, they are more and more frequently replaced by high-frequency sonography. As in other types of ultrasound examinations, the assessment of peripheral nerves, including the median and ulnar nerves, is non-invasive, well-tolerated by patients, relatively inexpensive and readily available. The examiner must possess knowledge on nerve topographic anatomy and criteria for ultrasound assessment of peripheral neuropathies. During an ultrasound examination, the following are assessed: shape, cross-sectional area of the nerve trunk, its echogenicity, vascularity and relation to adjacent tissues. Motor and sensorimotor nerves may also be assessed indirectly by analysing ultrasound images of the skeletal muscle innervated by these nerves. Furthermore, an important element of an ultrasound examination is dynamic assessment of the nerves. Carpal and cubital tunnel syndromes belong to so-called entrapment neuropathies whose common sonographic features are nerve oedema and hyperaemia proximally to the compression site.

  9. Differential vulnerability of 3 rapidly conducting somatosensory pathways in the dog with vitamin B6 neuropathy.

    Science.gov (United States)

    Schaeppi, U; Krinke, G

    1985-09-01

    In anesthetized dogs with chronically implanted cortical electrodes somatic sensory-evoked potentials (SEPs) were produced by electrical stimulation at neural, muscular or cutaneous sites of the contralateral hind leg. Stimulation of the tibial nerve at the calcaneus or of the short flexor muscles of the hind paw caused SEPs having characteristics following activation of rapidly conducting afferents from muscle spindles. Stimulation of the glabrous skin of the central pad resulted in SEPs arriving after a more protracted latency evidently related to activation of afferents from Merkel cells, Krause and Pacinian corpuscles known to be located at these sites. Stimulation of the hairy skin from the dorsal surface of the hindpaw produced a further type of SEP presumably resulting from activation of afferents from receptors of tylotrich hair follicles. Vitamin B6-induced neuropathy involves the selective degeneration of the largest neurons in the spinal ganglia and of associated long peripheral and central neurites performing rapid impulse transmission. In the course of vitamin B6 neuropathy the relatively slow impulse transmission following stimulation of the central pad was more severely impaired than the faster one after activation of afferents from muscle spindles or receptors from hair follicles. This allows us to conclude that in the dog afferents from the glabrous skin of the central pad conduct centrally via the dorsal columns, susceptible to vitamin B6 intoxication, while muscle and hair receptor afferents ascend in the dorsal spinocerebellar and spinocervical tract, respectively, which are vitamin B6 resistant.

  10. Reflexology in the management of chemotherapy induced peripheral neuropathy: A pilot randomized controlled trial.

    Science.gov (United States)

    Kurt, Seda; Can, Gulbeyaz

    2018-02-01

    The current experimental study aimed to evaluate the effectiveness of reflexology on the management of symptoms and functions of chemotherapy-induced peripheral neuropathy (CIPN) in cancer patients. This study was conducted as a randomized controlled trial in 60 patients (30 experimental and 30 control patients) who had chemotherapy-induced Grade II-IV peripheral neuropathy complaints from July 2013 to November 2015. Data were collected using the patient identification form, European Organization for the Research and Treatment of Cancer Quality of Life Questionnaire Chemotherapy-Induced Peripheral Neuropathy (EORTC-CIPN-20) form, and BPI (used for related chemotherapy-induced peripheral neuropathy symptoms). The majority of the patients were being treated for gastrointestinal or breast cancer and were primarily receiving Eloxatine- or taxane-based treatment. It was found that reflexology applications did not lead to differences in either group in terms of peripheral neuropathy severity and incidence (p > 0.05) and only led to improvement in sensory functions in the experimental group (p < 0.05). It was determined that reflexology is not an effective method in the management of patients' activity levels, walking ability etc. and motor, autonomic functions related CIPN, but reflexology is effective method in the management of patients' sensory functions related CIPN. Key Words: Peripheral neuropathy, reflexology, chemotherapy, EORTC QLQ-CIPN-20, BPI. Copyright © 2017 Elsevier Ltd. All rights reserved.

  11. Selecting wool-type fabrics for sensorial comfort in women office clothing for the cold season, using the multi-criteria decision analysis

    Science.gov (United States)

    Harpa, Rodica

    2017-10-01

    This article presents the strategy and the procedure used to achieve the declared goal: fabrics selection, pursuing sensorial comfort of a specific women-clothing item, by using the multi-criteria decision analysis. First, the objective evaluation of seven wool-type woven fabrics, suitable to the quality profile expected for the defined destination, was accomplished. Then, a survey was conducted on a sample of 187 consumers, women aged between 18 to 60 years old, with a background in the textile field, regarding both the preferences manifested in purchasing products, and the importance of various sensory perceptions through handling materials used in clothing products. Finally, the MCDM applied through the implementation of previous accomplished software STAT-ADM, allowed choosing the preferred wool-type fabric in order to get the expected sensorial comfort of women office trousers for the cold season, according to the previously established criteria. This overall approach showed good results in fabrics selection for assuring the sensorial comfort in women’s clothing, by using the multicriteria decision analysis based on a rating scale delivered by customers with knowledge in the textile field, but non-experts in the fabrics hand evaluation topic.

  12. Impact of different types of stoppers on sensorial and phenolic characteristics evolution during a bottle storage time of a white wine from Chardonnay grape variety.

    Science.gov (United States)

    Xing, Ran-Ran; Liu, Di; Li, Zheng; Tian, Yuan; Zhang, Xiao-Xu; Li, Jing-Ming; Pan, Qiu-Hong

    2016-11-01

    The objective of this work was to study the correlation between the variation of phenolic compounds and sensory characteristics in white wine during bottle storage and to explore the compounds that affected sensory evolution. Chardonnay ( Vitis vinifera L. cv.) dry white wines were bottled under six types of stoppers and stored for 18 months. The composition of phenolic compounds was analyzed, and the sensory attributes of these wines were evaluated by professional panel. Multivariate statistical analysis demonstrated that bottle aging period exhibited a more important effect on phenolic compound evolution than stopper type. Most of the phenolic compounds disappeared after 18 months of bottle storage, whereas the wine sensory attributes were significantly improved after 15-month of bottle aging. No strong correlation existed between the phenolic variation and the dissolved oxygen content. Wine color characteristics developed towards better quality accompanying with the reduction of detectable hydroxycinnamic acid derivatives and flavan-3-ols, while the wine mouth-feel was related mainly to gallic acid and ferulic acid ester. This work provided some references for wine producers to select appropriate storage duration for bottled white wine.

  13. Embodied thermal environments: an examination of older-people's sensory experiences in a variety of residential types

    International Nuclear Information System (INIS)

    Henshaw, Victoria; Guy, Simon

    2015-01-01

    Thermal sensations of space, namely temperature, humidity and the movement of air, can be difficult to separate from other sensory information such as the sound of fans or ventilation equipment, or the smell of damp or cool fresh air. Despite this factor, efforts to reduce the consumption of energy through the installation of low-carbon technologies including sealed whole-building systems frequently isolate the thermal environment and fail to recognise and respond to the influence of other sensory information on personal preferences and behaviours. Older people represent an increasing proportion of the UK's population, can be faced with a range of physiological challenges associated with ageing, and sometimes have long-established personal preferences. Drawing from data collected across the Conditioning Demand Project, this paper explores the embodied nature of older people's experiences of low-carbon and more traditional thermal technologies in private residences, extra-care housing and residential care-homes, focussing specifically upon auditory and olfactory stimulus. Exploring the management of the sensory experience across these settings, we analyse each case to inform the development of new design and policy approaches to tackling housing for older people. In doing so, we further build connections between energy research and debates around sensory urbanism. -- Highlights: •Some thermal technologies present particular sensory issues and problems for older people. •Older people use a range of sensory stimuli in evaluating and controlling thermal environments. •Older people use non-thermal sensory information when selecting between thermal technologies. •Sensory information plays an important role in thermal technology maintenance

  14. Potential risk factors for diabetic neuropathy: a case control study

    Directory of Open Access Journals (Sweden)

    Nooraei Mahdi

    2005-12-01

    Full Text Available Abstract Background Diabetes mellitus type II afflicts at least 2 million people in Iran. Neuropathy is one of the most common complications of diabetes and lowers the patient's quality of life. Since neuropathy often leads to ulceration and amputation, we have tried to elucidate the factors that can affect its progression. Methods In this case-control study, 110 diabetic patients were selected from the Shariati Hospital diabetes clinic. Michigan Neuropathic Diabetic Scoring (MNDS was used to differentiate cases from controls. The diagnosis of neuropathy was confirmed by nerve conduction studies (nerve conduction velocity and electromyography. The multiple factors compared between the two groups included consumption of angiotensin converting enzyme inhibitors (ACEI, blood pressure, serum lipid level, sex, smoking, method of diabetes control and its quality. Results Statistically significant relationships were found between neuropathy and age, gender, quality of diabetes control and duration of disease (P values in the order: 0.04, 0.04, Conclusion In this study, hyperglycemia was the only modifiable risk factor for diabetic neuropathy. Glycemic control reduces the incidence of neuropathy, slows its progression and improves the diabetic patient's quality of life. More attention must be paid to elderly male diabetic patients with poor diabetes control with regard to regular foot examinations and more practical education.

  15. Sympathetic Blocks Provided Sustained Pain Relief in a Patient with Refractory Painful Diabetic Neuropathy

    Directory of Open Access Journals (Sweden)

    Jianguo Cheng

    2012-01-01

    Full Text Available The sympathetic nervous system has been implicated in pain associated with painful diabetic neuropathy. However, therapeutic intervention targeted at the sympathetic nervous system has not been established. We thus tested the hypothesis that sympathetic nerve blocks significantly reduce pain in a patient with painful diabetic neuropathy who has failed multiple pharmacological treatments. The diagnosis of small fiber sensory neuropathy was based on clinical presentations and confirmed by skin biopsies. A series of 9 lumbar sympathetic blocks over a 26-month period provided sustained pain relief in his legs. Additional thoracic paravertebral blocks further provided control of the pain in the trunk which can occasionally be seen in severe diabetic neuropathy cases, consequent to extensive involvement of the intercostal nerves. These blocks provided sustained and significant pain relief and improvement of quality of life over a period of more than two years. We thus provided the first clinical evidence supporting the notion that sympathetic nervous system plays a critical role in painful diabetic neuropathy and sympathetic blocks can be an effective management modality of painful diabetic neuropathy. We concluded that the sympathetic nervous system is a valuable therapeutic target of pharmacological and interventional modalities of treatments in painful diabetic neuropathy patients.

  16. Restoration of optic neuropathy

    Directory of Open Access Journals (Sweden)

    You SW

    2017-03-01

    Full Text Available Si-Wei You,1 Ming-Mei Wu,2 Fang Kuang,2 Kin-Sang Cho,3 Kwok-Fai So4,5 1Department of Ophthalmology, Xijing Hospital, 2Institute of Neurosciences, The Fourth Military Medical University, Xi’an, China; 3Schepens Eye Research Institute, Massachusetts Eye and Ear, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA; 4GHM Institute of CNS Regeneration, Key Laboratory of Brain Function and Diseases, Jinan University, Guangzhou, 5Department of Ophthalmology, The State Key laboratory of Brain and Cognitive Sciences, The University of Hong Kong, Hong Kong SAR, China Abstract: Optic neuropathy refers to disorders involving the optic nerve (ON. Any damage to ON or ON-deriving neurons, the retinal ganglion cells (RGCs, may lead to the breakdown of the optical signal transmission from the eye to the brain, thus resulting in a partial or complete vision loss. The causes of optic neuropathy include trauma, ischemia, inflammation, compression, infiltration, and mitochondrial damages. ON injuries include primary and secondary injuries. During these injury phases, various factors orchestrate injured axons to die back and become unable to regenerate, and these factors could be divided into two categories: extrinsic and intrinsic. Extrinsic inhibitory factors refer to the environmental conditions that influence the regeneration of injured axons. The presence of myelin inhibitors and glial scar, lack of neurotrophic factors, and inflammation mediated by injury are regarded as these extrinsic factors. Extrinsic factors need to trigger the intracellular signals to exert inhibitory effect. Proper regulation of these intracellular signals has been shown to be beneficial to ON regeneration. Intrinsic factors of RGCs are the pivotal reasons that inhibit ON regeneration and are closely linked with extrinsic factors. Intracellular cyclic adenosine monophosphate (cAMP and calcium levels affect axon guidance and growth cone response to guidance molecules

  17. Comparison of an Electronic Nose Based on Ultrafast Gas Chromatography, Comprehensive Two-Dimensional Gas Chromatography, and Sensory Evaluation for an Analysis of Type of Whisky

    Directory of Open Access Journals (Sweden)

    Paulina Wiśniewska

    2017-01-01

    Full Text Available Whisky is one of the most popular alcoholic beverages. There are many types of whisky, for example, Scotch, Irish, and American whisky (called bourbon. The whisky market is highly diversified, and, because of this, it is important to have a method which would enable rapid quality evaluation and authentication of the type of whisky. The aim of this work was to compare 3 methods: an electronic nose based on the technology of ultrafast gas chromatography (Fast-GC, comprehensive two-dimensional gas chromatography (GC × GC, and sensory evaluation. The selected whisky brands included 6 blended whiskies from Scotland, 4 blended whiskies from Ireland, and 4 bourbons produced in the USA. For data analysis, peak heights of chromatograms were used. The panelists who took part in sensory evaluations included 4 women and 4 men. The obtained data were analyzed by 2 chemometric methods: partial least squares discriminant analysis (PLS-DA and discrimination function analysis (DFA. E-nose and GC × GC allowed for differentiation between whiskies by type. Sensory analysis did not allow for differentiation between whiskies by type, but it allowed giving consumer preferences.

  18. Posterior interosseous neuropathy: the diagnostic benefits of a multimodal approach to investigation.

    Science.gov (United States)

    Lawley, Andrew Robert; Saha, Shouvik; Manfredonia, Francesco

    2016-04-01

    Posterior interosseous neuropathy should be considered in patients presenting with finger and wrist drop and no sensory deficit. Clinical and electrophysiological assessments are key to a diagnosis. MRI may disclose etiological information not available to clinical or neurophysiological assessment, and should be thought as a complementary diagnostic tool.

  19. Docetaxel-induced neuropathy

    DEFF Research Database (Denmark)

    Eckhoff, Lise; Feddersen, Søren; Knoop, Ann

    2015-01-01

    neuropathy (DIPN). The main purpose of this study was to investigate the impact of genetic variants in GSTP1 and ABCB1 on DIPN. Material and methods. DNA was extracted from whole blood from 150 patients with early-stage breast cancer who had received adjuvant docetaxel from February 2011 to May 2012. Two...... polymorphisms in GSTP1 and three in ABCB1 were selected for the primary analysis, and a host of other candidate genes was explored and compared between 75 patients with clinician-reported DIPN grade ≥ 2 and 75 patients without DIPN. Results. Patients with the genetic variants GSTP1 rs1138272 C/T or T/T (114Ala...

  20. Leber hereditary optic neuropathy: current perspectives

    Directory of Open Access Journals (Sweden)

    Meyerson C

    2015-06-01

    Full Text Available Cherise Meyerson, Greg Van Stavern, Collin McClelland Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO, USA Abstract: Leber hereditary optic neuropathy (LHON is one of the most common inherited optic neuropathies causing bilateral central vision loss. The disorder results from point mutations in mitochondrial DNA and subsequent mitochondrial dysfunction. The primary cell type that is lost in LHON is the retinal ganglion cell, which is highly susceptible to disrupted ATP production and oxidative stress. Inheritance of LHON follows that of mitochondrial genetics, and it has a highly variable clinical phenotype, as other genetic and environmental factors also play a role. Although LHON usually presents with isolated vision loss, some patients suffer other neurological sequelae. For ill-defined reasons, male LHON mutation carriers are more affected than females. Most LHON patients remain legally blind, but a small proportion can experience spontaneous partial recovery, often within the first year of symptom onset. Unfortunately, at this time there are no established curative interventions and treatment is largely supportive. Patients should be offered low vision services and counseled on mitigating risk factors for additional vision loss, such as smoking and consuming alcohol. Encouraging treatments currently undergoing investigation includes ubiquinone analogs, such as idebenone, as well as gene therapy and stem cells to restore ATP synthesis and provide neuroprotection to surviving retinal ganglion cells. Keywords: Leber hereditary optic neuropathy, mitochondria, neuro-ophthalmology, mitochondrial DNA

  1. Effect of the type of fat on the physicochemical, instrumental and sensory characteristics of reduced fat non-acid fermented sausages.

    Science.gov (United States)

    Mora-Gallego, Héctor; Serra, Xavier; Guàrdia, Maria Dolors; Miklos, Rikke; Lametsch, René; Arnau, Jacint

    2013-03-01

    Four batches of reduced fat non-acid fermented sausages were manufactured with pork-ham lean, and the addition of no fat (Lean), 5% pork backfat (BF), 5% sunflower oil (SO) and 5% diacylglycerols (DAGs). The effect of the type of fat as pork-fat substitute on some physicochemical parameters, instrumental color and texture and sensory attributes of the sausages was studied. Results showed that reduced fat non-acid fermented sausages containing less than 12.5% of fat (BF, SO and DAGs) had a good overall sensory quality. This means a fat reduction of more than 70% compared with the average fat content of standard fermented sausages of similar characteristics. Sausages with SO showed higher sensory ratings in desirable ripened odor and flavor attributes and improved texture defined by lower hardness and chewiness (both sensory and instrumental) and higher crumbliness. Sausages with DAGs showed a similar behavior to that of BF, so they could be a good alternative to produce healthier reduced fat non-acid fermented sausages. Copyright © 2012 Elsevier Ltd. All rights reserved.

  2. HSPB1 mutations causing hereditary neuropathy in humans disrupt non-cell autonomous protection of motor neurons.

    Science.gov (United States)

    Heilman, Patrick L; Song, SungWon; Miranda, Carlos J; Meyer, Kathrin; Srivastava, Amit K; Knapp, Amy; Wier, Christopher G; Kaspar, Brian K; Kolb, Stephen J

    2017-11-01

    Heat shock protein beta-1 (HSPB1), is a ubiquitously expressed, multifunctional protein chaperone. Mutations in HSPB1 result in the development of a late-onset, distal hereditary motor neuropathy type II (dHMN) and axonal Charcot-Marie Tooth disease with sensory involvement (CMT2F). The functional consequences of HSPB1 mutations associated with hereditary neuropathy are unknown. HSPB1 also displays neuroprotective properties in many neuronal disease models, including the motor neuron disease amyotrophic lateral sclerosis (ALS). HSPB1 is upregulated in SOD1-ALS animal models during disease progression, predominately in glial cells. Glial cells are known to contribute to motor neuron loss in ALS through a non-cell autonomous mechanism. In this study, we examined the non-cell autonomous role of wild type and mutant HSPB1 in an astrocyte-motor neuron co-culture model system of ALS. Astrocyte-specific overexpression of wild type HSPB1 was sufficient to attenuate SOD1(G93A) astrocyte-mediated toxicity in motor neurons, whereas, overexpression of mutHSPB1 failed to ameliorate motor neuron toxicity. Expression of a phosphomimetic HSPB1 mutant in SOD1(G93A) astrocytes also reduced toxicity to motor neurons, suggesting that phosphorylation may contribute to HSPB1 mediated-neuroprotection. These data provide evidence that astrocytic HSPB1 expression may play a central role in motor neuron health and maintenance. Copyright © 2017 Elsevier Inc. All rights reserved.

  3. Catecholamines and diabetic autonomic neuropathy

    DEFF Research Database (Denmark)

    Hilsted, J

    1995-01-01

    of plasma catecholamine measurements is not due to changes in the clearance of catecholamines in diabetic autonomic neuropathy. The physiological responses to infused adrenaline and to noradrenaline are enhanced, for noradrenaline mainly cardiovascular responses. Adrenoceptors (alpha and beta adrenoceptors...

  4. [Diabetic Retinopathy and Neuropathy: New in 2015].

    Science.gov (United States)

    Henzen, Christoph

    2015-06-03

    In 2014 interesting new results were published in the field of diabetic microangiopathy: (1) In tensive treatment of type 1 diabetes for a mean of 6,5 years confers a lifelong reduction of the risk of diabetic retinopathy; (2) although the rates of diabetes-related complication have declined since 1990, the burden of disease persists because the prevalence of diabetes tripled during the same time; (3) subjects with diabetic neuropathy have structural brain changes, i.e. gray matter loss, findings with possible implications for the prognosis; (4) over 80% of type 2 diabetics who consider their feet to be normal have serious foot pathology.

  5. Autonomic Neuropathy in Diabetes Mellitus

    OpenAIRE

    Verrotti, Alberto; Prezioso, Giovanni; Scattoni, Raffaella; Chiarelli, Francesco

    2014-01-01

    Diabetic autonomic neuropathy (DAN) is a serious and common complication of diabetes, often overlooked and misdiagnosed. It is a systemic-wide disorder that may be asymptomatic in the early stages. The most studied and clinically important form of DAN is cardiovascular autonomic neuropathy defined as the impairment of autonomic control of the cardiovascular system in patients with diabetes after exclusion of other causes. The reported prevalence of DAN varies widely depending on inconsistent ...

  6. Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

    Science.gov (United States)

    Mehta, Paulomi; Küspert, Melanie; Bale, Tejus; Brownstein, Catherine A; Towne, Meghan C; De Girolami, Umberto; Shi, Jiahai; Beggs, Alan H; Darras, Basil T; Wegner, Michael; Piao, Xianhua; Agrawal, Pankaj B

    2017-05-01

    Congenital hypomyelinating neuropathy (CHN) is a rare congenital neuropathy that presents in the neonatal period and has been linked previously to mutations in several genes associated with myelination. A recent study has linked 4 homozygous frameshift mutations in the contactin-associated protein 1 (CNTNAP1) gene with this condition. We report a neonate with CHN who was found to have absent sensory nerve and compound muscle action potentials and hypomyelination on nerve biopsy. On whole exome sequencing, we identified a novel CNTNAP1 homozygous missense mutation (p.Arg388Pro) in the proband, and both parents were carriers. Molecular modeling suggests that this variant disrupts a β-strand to cause an unstable structure and likely significant changes in protein function. This report links a missense CNTNAP1 variant to the disease phenotype previously associated only with frameshift mutations. Muscle Nerve 55: 761-765, 2017. © 2016 Wiley Periodicals, Inc.

  7. The health-related utility and health-related quality of life of hospital-treated subjects with type 1 or type 2 diabetes with particular reference to differing severity of peripheral neuropathy.

    Science.gov (United States)

    Currie, C J; Poole, C D; Woehl, A; Morgan, C Ll; Cawley, S; Rousculp, M D; Covington, M T; Peters, J R

    2006-10-01

    We characterised symptom severity of diabetic peripheral neuropathy (DPN) in people with diabetes, and correlated this with health-related utility and health-related quality of life. The study was undertaken in Cardiff and the Vale of Glamorgan, Wales. A postal survey was mailed to a random sample of subjects identified as having diabetes. Data were collected on the symptoms of neuropathy using the Neuropathic Total Symptom Score (self-administered) (NTSS-6-6A) and on quality of life using the Quality of Life in Diabetes Neuropathy Instrument (QoL-DN), EueroQoL five dimensions (EQ5D) and Short Form 36 (SF36). Other information, such as demographics and self-reported drug use, was also collected. The anonymised data were linked to routine inpatient and outpatient healthcare data. Responses were received from 1,298 patients. For patients with a clinically confirmed diagnosis of DPN, the mean NTSS-6-SA score was 6.16 vs 3.19 in patients without DPN (p<0.001). Four categories of severity were defined, ranging from none to severe. All quality of life measures showed a deterioration between these groups: the EQ5D(index) fell from an average of 0.81 in those without symptoms to 0.25 in those with severe symptoms, the SF36 general health profile fell from 59.9 to 25.5 (p<0.001) and the QoL-DN increased from 25.8 to 48.1 (p<0.001). Multivariate models also demonstrated that this relationship remained after controlling for other factors. This study demonstrated that severity of DPN symptoms was predictive of poor health-related utility and decreased quality of life. Furthermore, it provides detailed utility data for economic evaluation of treatment of typical diabetes-related morbidity states. Reducing DPN morbidity should be a priority.

  8. The HMX/NKX homeodomain protein MLS-2 specifies the identity of the AWC sensory neuron type via regulation of the ceh-36 Otx gene in C. elegans

    Science.gov (United States)

    Kim, Kyuhyung; Kim, Rinho; Sengupta, Piali

    2010-01-01

    The differentiated features of postmitotic neurons are dictated by the expression of specific transcription factors. The mechanisms by which the precise spatiotemporal expression patterns of these factors are regulated are poorly understood. In C. elegans, the ceh-36 Otx homeobox gene is expressed in the AWC sensory neurons throughout postembryonic development, and regulates terminal differentiation of this neuronal subtype. Here, we show that the HMX/NKX homeodomain protein MLS-2 regulates ceh-36 expression specifically in the AWC neurons. Consequently, the AWC neurons fail to express neuron type-specific characteristics in mls-2 mutants. mls-2 is expressed transiently in postmitotic AWC neurons, and directly initiates ceh-36 expression. CEH-36 subsequently interacts with a distinct site in its cis-regulatory sequences to maintain its own expression, and also directly regulates the expression of AWC-specific terminal differentiation genes. We also show that MLS-2 acts in additional neuron types to regulate their development and differentiation. Our analysis describes a transcription factor cascade that defines the unique postmitotic characteristics of a sensory neuron subtype, and provides insights into the spatiotemporal regulatory mechanisms that generate functional diversity in the sensory nervous system. PMID:20150279

  9. Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome: a slowly progressive disorder with stereotypical presentation.

    Science.gov (United States)

    Cazzato, Daniele; Bella, Eleonora Dalla; Dacci, Patrizia; Mariotti, Caterina; Lauria, Giuseppe

    2016-02-01

    Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a newly described condition with onset in adulthood, characterized by progressive balance impairment and sensory disturbances in the lower limbs, which can severely affect patients' quality of life. Its pathogenesis remains obscure and the diagnosis challenging. We described four patients complaining of slowly progressive gait unbalance and sensory disturbances at the feet followed, after a period ranging 2-6 years, by cerebellar dysfunction. All patients showed gait and limb ataxia, positive Romberg sign, cerebellar dysarthria, gaze-evoked nystagmus, absent deep tendon reflexes, and impaired vibratory sensation. Nerve conduction studies revealed axonal sensory neuropathy, brain magnetic resonance imaging showed cerebellar atrophy, and otoneurological investigation demonstrated bilateral vestibular areflexia with impaired vestibulo-ocular reflexes. The diagnosis of CANVAS should be suspected on clinical ground based on homogeneous course of symptoms and signs, and addressed by video-oculography eye movement recording.

  10. Pulse pressure and michigan neuropathy screening instrument are independently associated with asymptomatic peripheral arterial disease among type 2 diabetes community residents: A community-based screening program in Taiwan

    Directory of Open Access Journals (Sweden)

    Li-Chi Fan

    2013-12-01

    Full Text Available Background: Peripheral arterial disease (PAD is one of the major manifestations of systemic atherosclerosis and plays an important role in low-extremity amputation in type 2 diabetic patients. The aim of this study was to explore the prevalence and risk factors for asymptomatic PAD in type 2 diabetic community residents. Methods: This cross-sectional study enrolled 552 type 2 diabetic adults (232 men and 320 women without subjective symptoms of intermittent claudication. We defined the PAD group as an ankle-brachial index (ABI ≤ 0.90, and the normal group as an ABI 0.91-1.30. Their clinical characteristics, Michigan Neuropathy Screening Instrument (MNSI scores and blood pressure were compared. Results: We discovered that 51 patients have asymptomatic PAD. Univariate logistic regression analysis revealed that age, history of stroke, longer duration of diabetes (> 10 years, unemployment or retirement, pulse pressure, systolic blood pressure, and high MNSI score (> 2 were risk factors for PAD. By multivariate logistic regression analysis, pulse pressure, high MNSI score, age, and history of stroke were independent risk factors with odds ratios (95% confidence intervals, CI of 1.032 (1.012-1.053, 2.359 (1.274-4.370, 1.050 (1.010-1.091, and 5.152 (1.985-13.368, respectively. Furthermore, the prevalence of PAD increased significantly with increment in the pulse pressure and MNSI. Conclusions: In summary, the overall prevalence of asymptomatic PAD in the type 2 diabetic adults was 9.2%. Age, history of stroke, pulse pressure and MNSI score may provide important clinical information. Primary care physicians should be aware of asymptomatic patients with high pulse pressure and MNSI scores.

  11. [Toronto clinical scoring system in diabetic peripheral neuropathy].

    Science.gov (United States)

    Liu, Feng; Mao, Ji-Ping; Yan, Xiang

    2008-12-01

    To evaluate the application value of Toronto clinical scoring system (TCSS) and its grading of neuropathy for diabetic peripheral neuropathy (DPN), and to explore the relationship between TCSS grading of neuropathy and the grading of diabetic nephropathy and diabetic retinopathy. A total of 209 patients of Type 2 diabtes (T2DM) underwent TCSS. Taking electrophysiological examination as a gold standard for diagnosing DPN, We compared the results of TCSS score > or = 6 with electrophysiological examination, and tried to select the optimal cut-off points of TCSS. The corresponding accuracy, sensitivity, and specificity of TCSS score > or = 6 were 76.6%, 77.2%, and 75.6%, respectively.The Youden index and Kappa were 0.53 and 0.52, which implied TCSS score > or = 6 had a moderate consistency with electrophysiological examination. There was a linear positive correlation between TCSS grading of neuropathy and the grading of diabetic nephropathy and diabetic retinopathy (P<0.05). The optimal cut-off point was 5 or 6 among these patients. TCSS is reliable in diagnosing DPN and its grading of neuropathy has clinical value.

  12. The Effect of Omega-3 Polyunsaturated Fatty Acids on N-Terminal Pro-Brain Natriuretic Peptide and Lipids Concentration in Patients With Type 2 Diabetes Mellitus and Cardiovascular Autonomic Neuropathy

    Directory of Open Access Journals (Sweden)

    Serhiyenko Victoria

    2014-06-01

    Full Text Available Background and Aims: Cardiac autonomic neuropathy (CAN in type 2 diabetes mellitus (T2DM is one of the independent risk factor for cardiovascular mortality. The aim of the study was to analyze the effect of long-chain w-3 polyunsaturated fatty acids (w-3 PUFA on the levels of N-terminal pro-brain natriuretic peptide (NT-proBNP and on some lipid profile parameters in patients with T2DM and CAN. Material and Methods: 36 patients with T2DM and verified CAN were divided into 2 groups. The first group received traditional hypoglycemic therapy (n = 15, control for three months; patients in group 2 (n = 21 received in addition 1 g/day of the long-chain w-3 PUFA for three months. Results: Prescription of the w-3 PUFA to the patients with T2DM and СAN was accompanied by a statistically significant decrease of NT-proBNP level and led to significantly positive changes in the high density lipoprotein cholesterol and triglycerides levels in the blood. Conclusions: Obtained results suggest that the efficacy of w-3 PUFA is the result of a direct effect of the pharmacological agent on the investigated indexes

  13. Peroxynitrite and protein nitration in the pathogenesis of diabetic peripheral neuropathy.

    Science.gov (United States)

    Stavniichuk, Roman; Shevalye, Hanna; Lupachyk, Sergey; Obrosov, Alexander; Groves, John T; Obrosova, Irina G; Yorek, Mark A

    2014-11-01

    Peroxynitrite, a product of the reaction of superoxide with nitric oxide, causes oxidative stress with concomitant inactivation of enzymes, poly(ADP-ribosylation), mitochondrial dysfunction and impaired stress signalling, as well as protein nitration. In this study, we sought to determine the effect of preventing protein nitration or increasing peroxynitrite decomposition on diabetic neuropathy in mice after an extended period of untreated diabetes. C57Bl6/J male control and diabetic mice were treated with the peroxynitrite decomposition catalyst Fe(III) tetramesitylporphyrin octasulfonate (FeTMPS, 10 mg/kg/day) or protein nitration inhibitor (-)-epicatechin gallate (20 mg/kg/day) for 4 weeks, after an initial 28 weeks of hyperglycaemia. Untreated diabetic mice developed motor and sensory nerve conduction velocity deficits, thermal and mechanical hypoalgesia, tactile allodynia and loss of intraepidermal nerve fibres. Both FeTMPS and epicatechin gallate partially corrected sensory nerve conduction slowing and small sensory nerve fibre dysfunction without alleviation of hyperglycaemia. Correction of motor nerve conduction deficit and increase in intraepidermal nerve fibre density were found with FeTMPS treatment only. Peroxynitrite injury and protein nitration are implicated in the development of diabetic peripheral neuropathy. The findings indicate that both structural and functional changes of chronic diabetic peripheral neuropathy can be reversed and provide rationale for the development of a new generation of antioxidants and peroxynitrite decomposition catalysts for treatment of diabetic peripheral neuropathy. Published in 2014. This article is a U.S. Government work and is in the public domain in the USA.

  14. Genetics Home Reference: small fiber neuropathy

    Science.gov (United States)

    ... sodium channel. Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key ... Resources (5 links) Cleveland Clinic: Neuropathy Johns Hopkins Medicine: Peripheral Neuropathy MalaCards: sodium channelopathy-related small fiber ...

  15. Auditory Neuropathy Spectrum Disorder (ANSD) (For Parents)

    Science.gov (United States)

    ... Videos for Educators Search English Español Auditory Neuropathy Spectrum Disorder (ANSD) KidsHealth / For Parents / Auditory Neuropathy Spectrum ... is done while the child is sleeping. Otoacoustic emission (OAE): This test measures how well the outer ...

  16. Hypothyroidism: Can It Cause Peripheral Neuropathy?

    Science.gov (United States)

    Hypothyroidism: Can it cause peripheral neuropathy? Can hypothyroidism cause peripheral neuropathy and, if so, how is it treated? Answers from Todd B. Nippoldt, M.D. Hypothyroidism — a condition in which your ...

  17. Influence of pig genetic type on sensory properties and consumer acceptance of Parma, San Daniele and Toscano dry-cured hams.

    Science.gov (United States)

    Pagliarini, Ella; Laureati, Monica; Dinnella, Caterina; Monteleone, Erminio; Proserpio, Cristina; Piasentier, Edi

    2016-02-01

    This study investigated the sensory properties and acceptability of different Protected Designation of Origin (PDO) dry-cured hams. For each PDO, two genotypes were selected: IL×LW (reference hybrid) and Goland (commercial hybrid). According to descriptive analysis, genetic variance affected few attributes describing Toscano and San Daniele ham sensory quality. The commercial hybrid Parma ham was distinct from the traditional one, the Goland genotype being significantly higher in red color, saltiness, dryness and hardness and showing a lower intensity of pork-meat odor/flavor and sweetness than the IL×LW genotype. Consumer acceptance was mainly influenced by the PDO technology. A genotype effect on acceptance was only observed in Toscano ham. Principal component regression analysis revealed that Toscano ham was the preferred sample. Considering that the consumers involved were from Tuscany, it is likely that Toscano ham was preferred owing to their higher familiarity with this product. Sensory properties of ham samples were better discriminated according to their PDO than their genotype. Likewise, consumer liking was more affected by the specific PDO technology than by genetic type. Toscano ham was the most preferred and most familiar product among Tuscan consumers, indicating that familiarity with the product was the best driver of dry-cured ham preference. © 2015 Society of Chemical Industry.

  18. Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS.

    Science.gov (United States)

    Szmulewicz, David J; McLean, Catriona A; Rodriguez, Michael L; Chancellor, Andrew M; Mossman, Stuart; Lamont, Duncan; Roberts, Leslie; Storey, Elsdon; Halmagyi, G Michael

    2014-04-22

    To elucidate the neuropathology in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS), a novel cerebellar ataxia comprised of the triad of cerebellar impairment, bilateral vestibular hypofunction, and a peripheral sensory deficit. Brain and spinal neuropathology in 2 patients with CANVAS, together with brain and otopathology in another patient with CANVAS, were examined postmortem. Spinal cord pathology demonstrated a marked dorsal root ganglionopathy with secondary tract degeneration. Cerebellar pathology showed loss of Purkinje cells, predominantly in the vermis. The likely underlying sensory pathology in CANVAS is loss of neurons from the dorsal root and V, VII, and VIII cranial nerve ganglia-in other words, it is a "neuronopathy" rather than a "neuropathy." Clinically, CANVAS is a differential diagnosis for both spinocerebellar ataxia type 3 (or Machado-Joseph disease) and Friedreich ataxia. In addition, there are 6 sets of sibling pairs, implying that CANVAS is likely to be a late-onset recessive or autosomal dominant with reduced penetrance disorder, and identification of the culprit gene is currently a target of investigation.

  19. MRI of suprascapular neuropathy in a weight lifter.

    Science.gov (United States)

    Zeiss, J; Woldenberg, L S; Saddemi, S R; Ebraheim, N A

    1993-01-01

    Suprascapular neuropathy results from abnormal compression of the suprascapular nerve, typically at the suprascapular or spinoglenoid notch. This may be produced by either mass effect such as ganglion cyst or by certain repetitive shoulder motions producing wide scapular excursion (e.g., hyperabduction), which causes traction upon the nerve. Certain sports activities such as weight lifting predispose to this type of neuropathy. The clinical presentation is frequently not specific and the patient may be sent for MR evaluation to rule out rotator cuff tear or other more common shoulder abnormalities. This entity should be suspected if MR images demonstrate selective atrophy of the spinatus muscles with a structurally intact rotator cuff.

  20. Ulcers and thrombotic neuropathy as first manifestations in a patient with antiphospholipid syndrome

    International Nuclear Information System (INIS)

    Bolivar G, Isabel; Cano L, Natalia; Carmona C, Daniela; Correa S Elizabeth, Guerra P Lina and other

    2010-01-01

    This following case report describes a 34 years-old man with chronic clinical skin ulcers and left lower monoparesis. Electromyography revealed sensory neuropathy of the left superficial fibular nerve; the echographic studies showed absence of artery or venous disorder. The patient showed no improvement of skin lesions with aggressive immunosuppression. The biopsy of the skin and the sural nerve reported thrombi and absence of inflammatory infiltrates; findings that support the diagnosis of thrombotic vasculopathy and neuropathy. The presence of lupus anticoagulant, prolonged PTT and positive anti-B2 glycoprotein antibodies were documented.

  1. NON-GLAUCOMATOUS OPTIC NEUROPATHY IN IBADAN ...

    African Journals Online (AJOL)

    Though, optic neuropathy is not a diagnosis in itself, as it results from various aetiologies3, some cases of optic neuropathy are amenable to treatment with good visual outcome4,5. Optic neuropathy is a significant cause of visual impairment among Nigerians6. A study in the Low. Vision Clinic in Ibadan showed that the third.

  2. Channelopathies, painful neuropathy, and diabetes: which way does the causal arrow point?

    Science.gov (United States)

    Hoeijmakers, Janneke G J; Faber, Catharina G; Merkies, Ingemar S J; Waxman, Stephen G

    2014-10-01

    Diabetes mellitus, a major global health problem, is commonly associated with painful peripheral neuropathy, which can substantially erode quality of life. Despite its clinical importance, the pathophysiology of painful diabetic neuropathy is incompletely understood. It has traditionally been thought that diabetes may cause neuropathy in patients with appropriate genetic makeup. Here, we propose a hypothesis whereby painful neuropathy is not a complication of diabetes, but rather occurs as a result of mutations that, in parallel, confer vulnerability to injury in pancreatic β cells and pain-signaling dorsal root ganglion (DRG) neurons. We suggest that mutations of sodium channel NaV1.7, which is present in both cell types, may increase susceptibility for development of diabetes via β cell injury and produce painful neuropathy via a distinct effect on DRG neurons. Copyright © 2014 Elsevier Ltd. All rights reserved.

  3. Vasculitic neuropathy in panarteritis nodosa: clinical and ultrastructural findings.

    Science.gov (United States)

    Bussone, G; La Mantia, L; Frediani, F; Tredici, G; Petruccioli Pizzini, M G

    1986-04-01

    Clinical involvement of the peripheral nervous system in panarteritis nodosa is common, but the histological aspects are little known. We describe the sural nerve, muscle and skin biopsy findings in a patient with panarteritis nodosa, affected by mononeuritis multiplex. The data are compared to those reported in other types of vasculitis neuropathy.

  4. Nephropathy and Neuropathy in Diabetic Patients with Chronic ...

    African Journals Online (AJOL)

    Nephropathy and Neuropathy in Diabetic Patients with Chronic Hepatitis C Virus Infection. ... M Aziz, M El-Bendary, M El-Arman. Abstract. Introduction: Several reports described an association between type 2 diabetes mellitus (DM) and chronic hepatitis C virus (HCV) infection. Chronic HCV infection is prevalent in Egypt.

  5. Charcot-Marie-Tooth Disease Type 2B

    Directory of Open Access Journals (Sweden)

    Şenay Durdu

    2009-06-01

    Full Text Available Chatcot-Marie-Tooth (CMT is also known as peroneal muscular atrophy and hereditary motor-sensory neuropathy (HMSN. It is the most commonly encountered inherited peripheral neuropathy. Actually, CMT is not a single disease, but is a group of disorders with similar symptoms. CMT type 2 is the second most common form after CMT type1. Symptoms usually begin in childhood or early adulthood. Mostly the peripheral nerves of the lower extremities and occasionaly upper extremities may be affected. Motor nerve involvoment induces distal muscle weakness and atrophy in the lower extremities that may result in foot deformities known as foot drop, pes cavus, pes planus, hammer toe etc. As a result of sensorial nevre degeneration, callus, recurrent foot ulcers, osteonecrosis, osteolysis and spontaneous amputation may accompany the disease. The speed of nerve conduction is not changed in the EMG, but axonal type sensorymotor semptoms that lead to a decrease of amplitude. We report here a 55 year old man with recurrent foot ulcers for 33 years and self amputations, whose EMG findings suggest acsonal neuropathy and who also has a 20 year - old son with similar complaints.

  6. Some Motivational Properties of Sensory Stimulation in Psychotic Children

    Science.gov (United States)

    Rincover, Arnold; And Others

    1977-01-01

    This experiment assessed the reinforcing properties of sensory stimulation for autistic children using three different types of sensory stimulation: music, visual flickering, and visual movement. (SB)

  7. [Optic neuropathy in multiple sclerosis].

    Science.gov (United States)

    Petrescu, Simona; Pascu, Ruxandra; Panea, Cristina; Voinea, Liliana; Badarau, Anca; Nanea, Mariana; Romanitan, Oana; Ciuluvica, R

    2008-01-01

    The inflammation of the optic nerve called optic neuropathy could be an onset marker of multiple sclerosis. The authors review the place of optic neuropathy (neuritis) in the inflammatory demyelinating disease continuum, especially as the onset symptom of multiple sclerosis. We present the clinical symptoms, the aetiology of optic neuritis and the adjacent methods used to investigate optic neuritis. In the article are presented the actual criteria used to establish the multiple sclerosis diagnosis and the revised criteria for optic neuromyelitis, with emphasis on the differential diagnosis between these diseases.

  8. Bovine Herpes Virus 1 (BHV-1) and Herpes Simplex Virus Type 1 (HSV-1) Promote Survival of Latently Infected Sensory Neurons, in Part by Inhibiting Apoptosis

    Science.gov (United States)

    Jones, Clinton

    2013-01-01

    α-Herpesvirinae subfamily members, including herpes simplex virus type 1 (HSV-1) and bovine herpes virus 1 (BHV-1), initiate infection in mucosal surfaces. BHV-1 and HSV-1 enter sensory neurons by cell-cell spread where a burst of viral gene expression occurs. When compared to non-neuronal cells, viral gene expression is quickly extinguished in sensory neurons resulting in neuronal survival and latency. The HSV-1 latency associated transcript (LAT), which is abundantly expressed in latently infected neurons, inhibits apoptosis, viral transcription, and productive infection, and directly or indirectly enhances reactivation from latency in small animal models. Three anti-apoptosis genes can be substituted for LAT, which will restore wild type levels of reactivation from latency to a LAT null mutant virus. Two small non-coding RNAs encoded by LAT possess anti-apoptosis functions in transfected cells. The BHV-1 latency related RNA (LR-RNA), like LAT, is abundantly expressed during latency. The LR-RNA encodes a protein (ORF2) and two microRNAs that are expressed in certain latently infected neurons. Wild-type expression of LR gene products is required for stress-induced reactivation from latency in cattle. ORF2 has anti-apoptosis functions and interacts with certain cellular transcription factors that stimulate viral transcription and productive infection. ORF2 is predicted to promote survival of infected neurons by inhibiting apoptosis and sequestering cellular transcription factors which stimulate productive infection. In addition, the LR encoded microRNAs inhibit viral transcription and apoptosis. In summary, the ability of BHV-1 and HSV-1 to interfere with apoptosis and productive infection in sensory neurons is crucial for the life-long latency-reactivation cycle in their respective hosts. PMID:25278776

  9. Low Levels of NDRG1 in Nerve Tissue Are Predictive of Severe Paclitaxel-Induced Neuropathy.

    Directory of Open Access Journals (Sweden)

    Raghav Sundar

    Full Text Available Sensory peripheral neuropathy caused by paclitaxel is a common and dose limiting toxicity, for which there are currently no validated predictive biomarkers. We investigated the relationship between the Charcot-Marie-Tooth protein NDRG1 and paclitaxel-induced neuropathy.Archived mammary tissue specimen blocks of breast cancer patients who received weekly paclitaxel in a single centre were retrieved and NDRG1 immunohistochemistry was performed on normal nerve tissue found within the sample. The mean nerve NDRG1 score was defined by an algorithm based on intensity of staining and percentage of stained nerve bundles. NDRG1 scores were correlated with paclitaxel induced neuropathy.111 patients were studied. 17 of 111 (15% developed severe paclitaxel-induced neuropathy. The mean nerve NDRG1 expression score was 5.4 in patients with severe neuropathy versus 7.7 in those without severe neuropathy (p = 0.0019. A Receiver operating characteristic (ROC curve analysis of the mean nerve NDRG1 score revealed an area under the curve of 0.74 (p = 0.0013 for the identification of severe neuropathy, with a score of 7 being most discriminative. 13/54 (24% subjects with an NDRG1 score 7 (p = 0.017.Low NDRG1 expression in nerve tissue present within samples of surgical resection may identify subjects at risk for severe paclitaxel-induced neuropathy. Since nerve biopsies are not routinely feasible for patients undergoing chemotherapy for early breast cancer, this promising biomarker strategy is compatible with current clinical workflow.

  10. Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS).

    Science.gov (United States)

    Taki, Masakatsu; Nakamura, Takashi; Matsuura, Hiraku; Hasegawa, Tatsuhisa; Sakaguchi, Hirofumi; Morita, Kanako; Ishii, Ryotaro; Mizuta, Ikuko; Kasai, Takashi; Mizuno, Toshiki; Hirano, Shigeru

    2017-10-28

    Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a novel ataxic disorder consisting of the triad of cerebellar impairment, bilateral vestibular hypofunction, and a somatosensory deficit. We report the first Japanese case of CANVAS. The patient is a 68-year-old Japanese male. He was referred to our university for further evaluation of progressive gait disturbance and ataxia. He exhibited horizontal gaze-evoked nystagmus and sensory deficit. Nerve conduction studies showed sensory neuronopathy. Magnetic resonance imaging showed the atrophy of vermis but not of the brainstem. The caloric stimulation and video head impulse test (vHIT) showed bilateral vestibulopathy. The visually enhanced vestibulo-ocular reflex (VVOR) was also impaired. In addition to neurological and electrophysiological examinations, simple neuro-otological examinations (i.e., caloric stimulation, vHIT, and VVOR) may reveal more non-Caucasian cases. Copyright © 2017. Published by Elsevier B.V.

  11. Failure of action potential propagation in sensory neurons: mechanisms and loss of afferent filtering in C-type units after painful nerve injury.

    Science.gov (United States)

    Gemes, Geza; Koopmeiners, Andrew; Rigaud, Marcel; Lirk, Philipp; Sapunar, Damir; Bangaru, Madhavi Latha; Vilceanu, Daniel; Garrison, Sheldon R; Ljubkovic, Marko; Mueller, Samantha J; Stucky, Cheryl L; Hogan, Quinn H

    2013-02-15

    The T-junction of sensory neurons in the dorsal root ganglion (DRG) is a potential impediment to action potential (AP) propagation towards the CNS. Using intracellular recordings from rat DRG neuronal somata during stimulation of the dorsal root, we determined that the maximal rate at which all of 20 APs in a train could successfully transit the T-junction (following frequency) was lowest in C-type units, followed by A-type units with inflected descending limbs of the AP, and highest in A-type units without inflections. In C-type units, following frequency was slower than the rate at which AP trains could be produced in either dorsal root axonal segments or in the soma alone, indicating that the T-junction is a site that acts as a low-pass filter for AP propagation. Following frequency was slower for a train of 20 APs than for two, indicating that a cumulative process leads to propagation failure. Propagation failure was accompanied by diminished somatic membrane input resistance, and was enhanced when Ca(2+)-sensitive K(+) currents were augmented or when Ca(2+)-sensitive Cl(-) currents were blocked. After peripheral nerve injury, following frequencies were increased in axotomized C-type neurons and decreased in axotomized non-inflected A-type neurons. These findings reveal that the T-junction in sensory neurons is a regulator of afferent impulse traffic. Diminished filtering of AP trains at the T-junction of C-type neurons with axotomized peripheral processes could enhance the transmission of activity that is ectopically triggered in a neuroma or the neuronal soma, possibly contributing to pain generation.

  12. Sensory, Digestion and Texture Quality of Commercial Gluten-Free Bread: Impact of Broken Rice Flour Type

    DEFF Research Database (Denmark)

    Feizollahi, Ehsan; Mirmoghtadaie, Leila; Mohammadifar, Mohammad Amin

    2018-01-01

    This research investigated the effects of two varieties of broken rice (Khouzestan and Lenjan) from warm and dry regions, and two (Hashemi and Tarom) from mild and humid regions on different parameters including dough rheology, digestibility and quality (color, specific volume, textural properties...... with water-binding capacity and was affected by elastic modulus of dough. Results of predicted glycemic index were in accordance with total carbohydrates. Khouzestan received the highest score in sensory evaluation test. Based on the outcomes for bread-quality attributes, Khouzestan from the warm and dry...

  13. A 70-year-old male with peripheral neuropathy, ataxia and antigliadin antibodies shows improvement in neuropathy, but not ataxia, after intravenous immunoglobulin and gluten-free diet

    Directory of Open Access Journals (Sweden)

    Dharshan Anandacoomaraswamy

    2008-10-01

    Full Text Available Dharshan Anandacoomaraswamy1, Jagdeesh Ullal2, Aaron I Vinik21Department of Internal Medicine, Coney Island Hospital, Brooklyn, NY, USA; 2Strelitz Diabetes Center, Department of Internal Medicine, Eastern Virginia Medical School, Norfolk, VA, USAAbstract: This is a case of a 70-year-old man with severe peripheral neuropathy, type 2 diabetes and progressively worsening cerebellar ataxia. He was found to have circulating antigliadin and antireticulin antibodies compatible with celiac disease in the absence of intestinal pathology. The peripheral neuropathy improved with a gluten-free diet, antioxidants and intravenous immunoglobulin, whereas the ataxia did not. This case illustrates the need to test for celiac disease in patients with idiopathic ataxia and peripheral neuropathy and the need for alternative therapies for ataxia. Keywords: celiac disease, peripheral neuropathy, autoimmune disease, cerebellar ataxia, type 2 diabetes

  14. Painful neuropathies: the emerging role of sodium channelopathies.

    Science.gov (United States)

    Brouwer, Brigitte A; Merkies, Ingemar S J; Gerrits, Monique M; Waxman, Stephen G; Hoeijmakers, Janneke G J; Faber, Catharina G

    2014-06-01

    Pain is a frequent debilitating feature reported in peripheral neuropathies with involvement of small nerve (Aδ and C) fibers. Voltage-gated sodium channels are responsible for the generation and conduction of action potentials in the peripheral nociceptive neuronal pathway where NaV 1.7, NaV 1.8, and NaV 1.9 sodium channels (encoded by SCN9A, SCN10A, and SCN11A) are preferentially expressed. The human genetic pain conditions inherited erythromelalgia and paroxysmal extreme pain disorder were the first to be linked to gain-of-function SCN9A mutations. Recent studies have expanded this spectrum with gain-of-function SCN9A mutations in patients with small fiber neuropathy and in a new syndrome of pain, dysautonomia, and small hands and small feet (acromesomelia). In addition, painful neuropathies have been recently linked to SCN10A mutations. Patch-clamp studies have shown that the effect of SCN9A mutations is dependent upon the cell-type background. The functional effects of a mutation in dorsal root ganglion (DRG) neurons and sympathetic neuron cells may differ per mutation, reflecting the pattern of expression of autonomic symptoms in patients with painful neuropathies who carry the mutation in question. Peripheral neuropathies may not always be length-dependent, as demonstrated in patients with initial facial and scalp pain symptoms with SCN9A mutations showing hyperexcitability in both trigeminal ganglion and DRG neurons. There is some evidence suggesting that gain-of-function SCN9A mutations can lead to degeneration of peripheral axons. This review will focus on the emerging role of sodium channelopathies in painful peripheral neuropathies, which could serve as a basis for novel therapeutic strategies. © 2014 Peripheral Nerve Society.

  15. DNA testing in hereditary neuropathies.

    LENUS (Irish Health Repository)

    Murphy, Sinéad M

    2013-01-01

    The inherited neuropathies are a clinically and genetically heterogeneous group of disorders in which there have been rapid advances in the last two decades. Molecular genetic testing is now an integral part of the evaluation of patients with inherited neuropathies. In this chapter we describe the genes responsible for the primary inherited neuropathies. We briefly discuss the clinical phenotype of each of the known inherited neuropathy subgroups, describe algorithms for molecular genetic testing of affected patients and discuss genetic counseling. The basic principles of careful phenotyping, documenting an accurate family history, and testing the available genes in an appropriate manner should identify the vast majority of individuals with CMT1 and many of those with CMT2. In this chapter we also describe the current methods of genetic testing. As advances are made in molecular genetic technologies and improvements are made in bioinformatics, it is likely that the current time-consuming methods of DNA sequencing will give way to quicker and more efficient high-throughput methods, which are briefly discussed here.

  16. Dorsal scapular nerve neuropathy: a narrative review of the literature.

    Science.gov (United States)

    Muir, Brad

    2017-08-01

    The purpose of this paper is to elucidate this little known cause of upper back pain through a narrative review of the literature and to discuss the possible role of the dorsal scapular nerve (DSN) in the etiopathology of other similar diagnoses in this area including cervicogenic dorsalgia (CD), notalgia paresthetica (NP), SICK scapula and a posterolateral arm pain pattern. Dorsal scapular nerve (DSN) neuropathy has been a rarely thought of differential diagnosis for mid scapular, upper to mid back and costovertebral pain. These are common conditions presenting to chiropractic, physiotherapy, massage therapy and medical offices. The methods used to gather articles for this paper included: searching electronic databases; and hand searching relevant references from journal articles and textbook chapters. One hundred-fourteen articles were retrieved. After removing duplicates, there were 57 articles of which 29 were retrieved. There were 26 articles and textbook chapters retrieved by hand searching equaling 55 articles retrieved of which 47 relevant articles were used in this report. The anatomy, pathway and function of the dorsal scapular nerve can be varied and exceptionally rarely may include a sensory component. The signs and symptoms, therefore, may include pain, atrophy, scapular winging, and dysesthesia. The mechanism of injury to the DSN is also quite varied ranging from postural to overuse in overhead work and sport. Other conditions in this area, including CD, NP, SICK scapula and a posterolateral arm pain pattern bear a striking resemblance to DSN neuropathy. DSN neuropathy should be included in the list of common differential diagnoses of upper and mid-thoracic pain, stiffness, dysesthesia and dysfunction. The study also brings forward interesting connections between DSN neuropathy, CD, NP, SICK scapula and a posterolateral arm pain pattern.

  17. Physicochemical analysis of wheat flour fortified with vitamin A and three types of iron source and sensory analysis of bread using these flours.

    Science.gov (United States)

    Crandall, Philip G; Seo, Han-Seok; O'Bryan, Corliss A; Meullenet, Jean F; Hettiarachchy, Navam S; Washburn, Anna M; Ranhotra, Gur S

    2013-07-01

    Wheat flour is increasingly being fortified worldwide with vitamin A and iron. Research on high levels of fortification is limited; therefore, in this study, wheat flour was made under controlled conditions fortified with vitamin A at 30 000 or 70 000 retinol equivalents (RE) kg⁻¹ and three types of iron source at 66 mg kg⁻¹. Milling produced a uniform distribution of fortificants with no significant separation during packaging or transportation. Chemical and physical analyses demonstrated that the dual fortified flours had acceptable physicochemical properties of mixing tolerance, pasting curves, damaged starch and falling numbers. The level of vitamin A fortification compensated for initial loss caused during wheat processing. Overall, white breads baked from seven treatments of fortified flour had only 22% (eight out of 36) of the sensory attributes as being significantly different. However, the type of iron source may play a key role in modulating the sensory attributes of bread baked from the dual fortified flour with vitamin A and iron. The findings suggest that dual fortified flour with high or even lower levels of vitamin A and iron could be considered for food fortification programmes to reduce the prevalence of micronutrient undernutrition of vitamin A and iron in developing countries. © 2013 Society of Chemical Industry.

  18. Avaliação sensorial do café cereja descascado, armazenado sob atmosfera artificial e convencional Sensorial evaluation of shelled cherry-colored type coffee stored under artificial and conventional atmosphere

    Directory of Open Access Journals (Sweden)

    Flávio Meira Borém

    2008-12-01

    Full Text Available Objetivou-se, com o presente trabalho, avaliar sensorialmente as bebidas e classificar quanto ao tipo o café cereja descascado submetido a diferentes acondicionamentos, ao longo do armazenamento. O experimento foi instalado em delineamento inteiramente casualizado (DIC, em esquema fatorial 2x5x5, com três repetições. Foram testados cinco acondicionamentos, com e sem modificação de atmosfera, em cinco épocas de avaliação, em dois lotes de café cereja descascado, sendo um em pergaminho e o outro beneficiado. Os acondicionamentos em embalagens impermeáveis (sacos de náilon, sacos de náilon com 40% de CO2 e sacos aluminizados a vácuo apresentaram capacidade de preservar a qualidade de bebida do café cereja descascado, na duração e nas condições do experimento. Os cafés acondicionados em embalagens permeáveis (sacos de juta e sacos de juta com casca de café picada apresentaram alterações sensoriais que depreciaram a qualidade do café. Na classificação física, o tipo do café não sofreu alteração nos diversos acondicionamentos usados durante o experimento.The present work aimed to give a sensorial evaluation to the coffee (Coffea arabica L. beverage and to classify the shelled cherry-colored type coffee submitted to different packaging during storage. The experiment was installed entirely at random in a factorial outline 2x5x5, with three repetitions. Five packages were tested, with and without atmosphere modification, in five evaluation times, in two lots of shelled cherry-colored coffee, with one dried and the other processed. The impermeable packages (nylon sacks, nylon sacks with 40% of CO2 and foil vacuum packs presented a capacity of preserving the quality of the drink of the shelled cherry-colored coffee, throughout the duration and conditions of the experiment. The coffee conditioned in permeable packing (jute sacks and jute sacks with ground coffee shells presented sensorial alterations that depreciated the

  19. Correlation between arterial wall stiffness, N-terminal prohormone of brain natriuretic peptide, functional and structural myocardial abnormalities in patients with type 2 diabetes mellitus and cardiac autonomic neuropathy

    Directory of Open Access Journals (Sweden)

    Viktoriya Aleksandrovna Serhiyenko

    2013-12-01

    Full Text Available Aim. To assess arterial wall stiffness, plasma levels of of N-terminal prohormone of brain natriuretic peptide (NT-proBNP, as well as functional state and structure of the myocardium in patients with type 2 diabetes mellitus (T2DM and cardiac autonomic neuropathy (CAN.Materials and Methods. The study involved a total of 65 patients with T2DM. 12 had no evidence of cardiovascular disease (CVD or CAN, 14 were diagnosed with subclinical stage of CAN, 18 – with functional stage, and 21 – with organic stage. We measured aortic pulse wave velocity (PWV, aortic augmentation index (AIx, brachial artery AIx, ambulatory arterial stiffness index (AASI and plasma levels of NT-proBNP. Clinical examination included ECG, Holter monitoring, ambulatory BP measurement and echocardiography.Results. Patients with isolated T2DM showed a trend for increased vascular wall stiffness. PWV was increased in patients with subclinical stage of CAN. Aortic and brachial AIx, PWV and AASI were elevated in patients with functional stage of CAN, PWV being significantly higher vs. subclinical CAN subgroup. Organic stage was characterized by pathologically increased values of all primary parameters; PWV and AASI were significantly higher compared with other groups. Development and progression of CAN was accompanied by an increase in NT-proBNP plasma levels. Concentration of NT-proBNP was in direct correlation with left ventricular mass (LVM and PWV. PWV and LVM values also directly correlated between themselves.Conclusion. Development and progression of CAN in patients with T2DM is accompanied by an increase in vascular wall stiffness. The elevation of plasma NT-proBNP in patients with T2DM correlates with the development of CAN and is significantly and independently associated with an increase in LVM and PWV. Our data suggests the pathophysiological interconnection between metabolic, functional and structural myocardial abnormalities in patients with T2DM and CAN.

  20. Lifestyle risk factors for ulnar neuropathy and ulnar neuropathy-like symptoms

    DEFF Research Database (Denmark)

    Frost, Poul; Johnsen, Birger; Fuglsang-Frederiksen, Anders

    2013-01-01

    Introduction: We examined whether lifestyle factors differ between patients with ulnar neuropathy confirmed by electroneurography (ENG) and those with ulnar neuropathy-like symptoms with normal ulnar nerve ENG. Methods: Among patients examined by ENG for suspected ulnar neuropathy, we identified...... 546 patients with ulnar neuropathy and 633 patients with ulnar neuropathy-like symptoms. These groups were compared with 2 separate groups of matched community referents and to each other. Questionnaire information on lifestyle was obtained. The electrophysiological severity of neuropathy was also...

  1. [Diabetic neuropathy: therapeutic nihilism is no longer acceptable].

    Science.gov (United States)

    Haslbeck, Manfred

    2007-05-21

    The repeatedly expressed doubts about the value of an effective therapy for diabetic neuropathies are no longer acceptable. Today a number of excellent longitudinal and cross-sectional studies, i.e. DCCT, Steno 2, DCCT/EDIC, European Diabetes Prospective Complications Study, are available. The attending physician should make every effort to diagnose diabetic neuropathies as soon as possible with all their multivarious manifestations. Treatment must be promptly, aggressively and multifactorially as described in evidence-based guidelines. In principle, the same risk factors apply to neuropathy in type 1 and type 2 diabetes as for macro-angiopathy and microangiopathy. Therapy focuses on establishing near-normal diabetes and blood pressure control, lipid management, intensive patient education, avoidance of exogenous noxae such as alcohol and nicotine and if necessary, an effective therapy of neuropathic pain. The objective of all diagnostic and preventive efforts must be always to avoid the development of the diabetic neuropathic foot syndrome, which is the most important end stage of somatic and autonomic diabetic neuropathy.

  2. Immunoglobulin deposits in peripheral nerve endings detected by skin biopsy in patients with IgM M proteins and neuropathy

    DEFF Research Database (Denmark)

    Jønsson, V; Jensen, T S; Friis, M L

    1987-01-01

    biopsies provide a simple effective method of detecting immunoglobulin binding to peripheral nerves in patients suspected of having an autoimmune neuropathy. In contrast to sural nerve biopsy, skin biopsy does not cause sensory loss or pain in a denervated area and can easily be repeated....

  3. Episodic neurological dysfunction in hereditary peripheral neuropathy

    Directory of Open Access Journals (Sweden)

    Girish Baburao Kulkarni

    2015-01-01

    Full Text Available Episodic transient neurological symptoms are an important set of problems presenting to a neurologist in his routine practice. Occasionally, detailed clinical history including past and family history supplemented with focused examination can bring out a rare cause for such symptoms. We describe in this report in a young male presenting with episodic focal neurological dysfunction, with family history of similar episodes in mother and brother. Examination showed features of pes cavus and peripheral neuropathy for which patient was asymptomatic. Mother and brother were established cases of hereditary neuropathy. Imaging on multiple occasions showed reversible white matter abnormalities. Clinical suspicion of X-linked Charcot-Marie-Tooth disease type 1 (CMT1X was confirmed with detection of mutation in Gap Junction B1 (GJB1 gene, which codes for connexin 32 protein (c.425G>A; p.R142Q hemizygous mutation. Though this mutation has been already reported in CMTX patients, it has not been associated with transient neurological dysfunctions. This is probably the first reported case of CMTX patient with transient neurological dysfunction from India, whose family members had similar episodes.

  4. Type 1 diabetic patients with peripheral neuropathy have pan-enteric prolongation of gastrointestinal transit times and an altered caecal pH profile

    DEFF Research Database (Denmark)

    Farmer, Adam D; Pedersen, Anne Grave; Brock, Birgitte

    2017-01-01

    AIMS/HYPOTHESIS: We hypothesised that type 1 diabetic patients with established diabetic sensorimotor polyneuropathy (DSPN) would have segmental and/or pan-enteric dysmotility in comparison to healthy age-matched controls. We aimed to investigate the co-relationships between gastrointestinal...... function, degree of DSPN and clinical symptoms. METHODS: An observational comparison was made between 48 patients with DSPN (39 men, mean age 50 years, range 29-71 years), representing the baseline data of an ongoing clinical trial (representing a secondary analysis of baseline data collected from...... an ongoing double-blind randomised controlled trial investigating the neuroprotective effects of liraglutide) and 41 healthy participants (16 men, mean age 49 years, range 30-78) who underwent a standardised wireless motility capsule test to assess gastrointestinal transit. In patients, vibration thresholds...

  5. The Association between Serum Cytokines and Damage to Large and Small Nerve Fibers in Diabetic Peripheral Neuropathy.

    Science.gov (United States)

    Magrinelli, Francesca; Briani, Chiara; Romano, Marcello; Ruggero, Susanna; Toffanin, Elisabetta; Triolo, Giuseppa; Peter, George Chummar; Praitano, Marialuigia; Lauriola, Matteo Francesco; Zanette, Giampietro; Tamburin, Stefano

    2015-01-01

    Diabetic peripheral neuropathy (DPN) is a frequent complication of type 2 diabetes mellitus (DM) and may involve small and large peripheral nerve fibers. Recent evidence suggests a role of cytokines in DPN. The paper is aimed at exploring whether the serum concentration of cytokines is associated with small and large nerve fiber function and with neuropathic pain (NP). We recruited a group of 32 type 2 DM patients who underwent serum cytokines (TNF-α, IL-2, IL-4, IL-6, and IL-10) dosage as well as electrodiagnostic and quantitative sensory testing (QST) assessment to explore damage to large and small nerve fibers. Raised serum levels of IL-6 and IL-10 correlated with markers of large nerve fiber sensory and motor axonal damage. Raised IL-10 serum level was associated with signs of motor nerve demyelination. No differences were found in pain characteristics and electrodiagnostic and QST markers of small nerve fiber function in relation to cytokines serum levels. IL-6 and IL-10 serum levels were associated with large nerve fiber damage but not to small fibers function or NP. IL-6 and IL-10 cytokines might play a role in the pathogenesis of nerve fiber damage or represent a compensatory or neuroprotective mechanism.

  6. The Association between Serum Cytokines and Damage to Large and Small Nerve Fibers in Diabetic Peripheral Neuropathy

    Directory of Open Access Journals (Sweden)

    Francesca Magrinelli

    2015-01-01

    Full Text Available Diabetic peripheral neuropathy (DPN is a frequent complication of type 2 diabetes mellitus (DM and may involve small and large peripheral nerve fibers. Recent evidence suggests a role of cytokines in DPN. The paper is aimed at exploring whether the serum concentration of cytokines is associated with small and large nerve fiber function and with neuropathic pain (NP. We recruited a group of 32 type 2 DM patients who underwent serum cytokines (TNF-α, IL-2, IL-4, IL-6, and IL-10 dosage as well as electrodiagnostic and quantitative sensory testing (QST assessment to explore damage to large and small nerve fibers. Raised serum levels of IL-6 and IL-10 correlated with markers of large nerve fiber sensory and motor axonal damage. Raised IL-10 serum level was associated with signs of motor nerve demyelination. No differences were found in pain characteristics and electrodiagnostic and QST markers of small nerve fiber function in relation to cytokines serum levels. IL-6 and IL-10 serum levels were associated with large nerve fiber damage but not to small fibers function or NP. IL-6 and IL-10 cytokines might play a role in the pathogenesis of nerve fiber damage or represent a compensatory or neuroprotective mechanism.

  7. Corneal Confocal Microscopy Detects Small Fibre Neuropathy in Patients with Upper Gastrointestinal Cancer and Nerve Regeneration in Chemotherapy Induced Peripheral Neuropathy.

    Directory of Open Access Journals (Sweden)

    Maryam Ferdousi

    Full Text Available There are multiple neurological complications of cancer and its treatment. This study assessed the utility of the novel non-invasive ophthalmic technique of corneal confocal microscopy in identifying neuropathy in patients with upper gastrointestinal cancer before and after platinum based chemotherapy. In this study, 21 subjects with upper gastrointestinal (oesophageal or gastric cancer and 21 healthy control subjects underwent assessment of neuropathy using the neuropathy disability score, quantitative sensory testing for vibration perception threshold, warm and cold sensation thresholds, cold and heat induced pain thresholds, nerve conduction studies and corneal confocal microscopy. Patients with gastro-oesophageal cancer had higher heat induced pain (P = 0.04 and warm sensation (P = 0.03 thresholds with a significantly reduced sural sensory (P<0.01 and peroneal motor (P<0.01 nerve conduction velocity, corneal nerve fibre density (CNFD, nerve branch density (CNBD and nerve fibre length (CNFL (P<0.0001. Furthermore, CNFD correlated significantly with the time from presentation with symptoms to commencing chemotherapy (r = -0.54, P = 0.02, and CNFL (r = -0.8, P<0.0001 and CNBD (r = 0.63, P = 0.003 were related to the severity of lymph node involvement. After the 3rd cycle of chemotherapy, there was no change in any measure of neuropathy, except for a significant increase in CNFL (P = 0.003. Corneal confocal microscopy detects a small fibre neuropathy in this cohort of patients with upper gastrointestinal cancer, which was related to disease severity. Furthermore, the increase in CNFL after the chemotherapy may indicate nerve regeneration.

  8. Application of Purified Botulinum Type A Neurotoxin to Treat Experimental Trigeminal Neuropathy in Rats and Patients with Urinary Incontinence and Prostatic Hyperplasia

    Directory of Open Access Journals (Sweden)

    Yoshizo Matsuka

    2012-01-01

    Full Text Available Type A neurotoxin (NTX of Clostridium botulinum was purified by a simple procedure using a lactose gel column. The toxicity of this purified toxin preparation was retained for at least 1 year at −30°C by supplementation with either 0.1% albumin or 0.05% albumin plus 1% trehalose. When purified NTX was used to treat 49 patients with urinary incontinence caused by either refractory idiopathic or neurogenic detrusor overactivity, 36 patients showed significant improvement in symptoms. These beneficial effects were also observed in cases of prostatic hyperplasia. The results obtained with NTX were similar to that of Botox. The effects of NTX on trigeminal neuralgia induced by infraorbital nerve constriction (IoNC in rats were also studied. Trigeminal ganglion neurons from ipsilateral to IoNC exhibited significantly faster onset of FM4-64 release than sham-operated contralateral neurons. Intradermal injection of NTX in the area of IoNC alleviated IoNC-induced pain behavior and reduced the exaggerated FM4-64 release in trigeminal ganglion neurons.

  9. X-linked Charcot-Marie-Tooth (CMT) neuropathies (CMTX1, CMTX2, CMTX3) show different clinical phenotype and molecular genetics

    Energy Technology Data Exchange (ETDEWEB)

    Ionasescu, V.V.; Searby, C.C.; Ionasescu, R. [Univ. of Iowa Hospitals and Clinics, Iowa City, IA (United States)

    1994-09-01

    The purpose of this study was to compare the X-linked dominant type CMTX1 (20 families) with X-linked recessive types CMTX2 and CMTX3 (2 families). The clinical phenotype was consistent with CMT peripheral neuropathy in all cases including distal weakness, atrophy and sensory loss, pes cavus and areflexia. Additional clinicial involvement of the central nervous system was present in one family with CMTX2 (mental retardation) and one family with CMTX3 (spastic paraparesis). Tight genetic linkage to Xq13.1 was present in 20 families with CMTX1 (Z=34.07 at {theta}=0) for the marker DXS453. Fifteen of the CMTX1 families showed point mutations of the connexin 32 coding region (5 nonsense mutations, 8 missense mutations, 2 deletions). Five CMTX1 neuropathy families showed no evidence of point mutations of the CX32 coding sequence. These findings suggest that the CMTX1 neuropathy genotype in these families may be the result of promoter mutations, 3{prime}-untranslated region mutations or exon/intron splice site mutations or a mutation with a different type of connexin but which has close structural similarities to CX32. No mutations of the CX32 coding region were found in the CMTX2 or CMTX3 families. Linkage to Xq13.1 was excluded in both families. Genetic linkage to Xp22.2 was present in the CMTX2 family (Z=3.54 at {theta}=0) for the markers DXS987 and DXS999. Suggestion of linkage to Xq26 (Z=1.81 at {theta}=0) for the marker DXS86 was present in the CMTX3 family.

  10. Mechanosensitivity during lower extremity neurodynamic testing is diminished in individuals with Type 2 Diabetes Mellitus and peripheral neuropathy: a cross sectional study

    Directory of Open Access Journals (Sweden)

    Boyd Benjamin S

    2010-08-01

    Full Text Available Abstract Background Type 2 Diabetes Mellitus (T2DM and diabetic symmetrical polyneuropathy (DSP impact multiple modalities of sensation including light touch, temperature, position sense and vibration perception. No study to date has examined the mechanosensitivity of peripheral nerves during limb movement in this population. The objective was to determine the unique effects T2DM and DSP have on nerve mechanosensitivity in the lower extremity. Methods This cross-sectional study included 43 people with T2DM. Straight leg raise neurodynamic tests were performed with ankle plantar flexion (PF/SLR and dorsiflexion (DF/SLR. Hip flexion range of motion (ROM, lower extremity muscle activity and symptom profile, intensity and location were measured at rest, first onset of symptoms (P1 and maximally tolerated symptoms (P2. Results The addition of ankle dorsiflexion during SLR testing reduced the hip flexion ROM by 4.3° ± 6.5° at P1 and by 5.4° ± 4.9° at P2. Individuals in the T2DM group with signs of severe DSP (n = 9 had no difference in hip flexion ROM between PF/SLR and DF/SLR at P1 (1.4° ± 4.2°; paired t-test p = 0.34 or P2 (0.9° ± 2.5°; paired t-test p = 0.31. Movement induced muscle activity was absent during SLR with the exception of the tibialis anterior during DF/SLR testing. Increases in symptom intensity during SLR testing were similar for both PF/SLR and DF/SLR. The addition of ankle dorsiflexion induced more frequent posterior leg symptoms when taken to P2. Conclusions Consistent with previous recommendations in the literature, P1 is an appropriate test end point for SLR neurodynamic testing in people with T2DM. However, our findings suggest that people with T2DM and severe DSP have limited responses to SLR neurodynamic testing, and thus may be at risk for harm from nerve overstretch and the information gathered will be of limited clinical value.

  11. Carboplatin-paclitaxel-induced leukopenia and neuropathy predict progression-free survival in recurrent ovarian cancer.

    Science.gov (United States)

    Lee, C K; Gurney, H; Brown, C; Sorio, R; Donadello, N; Tulunay, G; Meier, W; Bacon, M; Maenpaa, J; Petru, E; Reed, N; Gebski, V; Pujade-Lauraine, E; Lord, S; Simes, R J; Friedlander, M

    2011-07-26

    We assess the prognostic value of chemotherapy-induced leukopenia and sensory neuropathy in the CALYPSO trial patients treated with carboplatin-paclitaxel (CP) or carboplatin-liposomal doxorubicin (CPLD). We performed a landmark analysis at first month after randomisation to correlate leukopenia (nadir white blood cell leukopenia. Leukopenia was prognostic for PFS in those receiving CP (adjusted hazard ratio (aHR) 0.66, P=0.01). Carboplatin-liposomal doxorubicin was more effective than CP in patients without leukopenia (aHR 0.51, P=0.001), but not those experiencing leukopenia (aHR 0.93, P=0.54; interaction P=0.008).Of 949 patients, 32% (CP=62%, CPLD=28%) reported neuropathy during landmark. Neuropathy was prognostic for PFS in the CP group only (aHR 0.77, P=0.02). Carboplatin-liposomal doxorubicin appeared to be more effective than CP among patients without neuropathy (aHR 0.70, Pleukopenia and neuropathy were prognostic for patients treated with CP. Efficacy of CP treatment was similar to CPLD in patients who developed leukopenia. These findings support further research to understand the mechanisms of treatment-related toxicity.

  12. Carboplatin–paclitaxel-induced leukopenia and neuropathy predict progression-free survival in recurrent ovarian cancer

    Science.gov (United States)

    Lee, C K; Gurney, H; Brown, C; Sorio, R; Donadello, N; Tulunay, G; Meier, W; Bacon, M; Maenpaa, J; Petru, E; Reed, N; Gebski, V; Pujade-Lauraine, E; Lord, S; Simes, R J; Friedlander, M

    2011-01-01

    Background: We assess the prognostic value of chemotherapy-induced leukopenia and sensory neuropathy in the CALYPSO trial patients treated with carboplatin–paclitaxel (CP) or carboplatin–liposomal doxorubicin (CPLD). Methods: We performed a landmark analysis at first month after randomisation to correlate leukopenia (nadir white blood cell leukopenia. Leukopenia was prognostic for PFS in those receiving CP (adjusted hazard ratio (aHR) 0.66, P=0.01). Carboplatin–liposomal doxorubicin was more effective than CP in patients without leukopenia (aHR 0.51, P=0.001), but not those experiencing leukopenia (aHR 0.93, P=0.54; interaction P=0.008). Of 949 patients, 32% (CP=62%, CPLD=28%) reported neuropathy during landmark. Neuropathy was prognostic for PFS in the CP group only (aHR 0.77, P=0.02). Carboplatin–liposomal doxorubicin appeared to be more effective than CP among patients without neuropathy (aHR 0.70, Pleukopenia and neuropathy were prognostic for patients treated with CP. Efficacy of CP treatment was similar to CPLD in patients who developed leukopenia. These findings support further research to understand the mechanisms of treatment-related toxicity. PMID:21750553

  13. Multiple cranial neuropathies without limb involvements: guillain-barre syndrome variant?

    Science.gov (United States)

    Yu, Ju Young; Jung, Han Young; Kim, Chang Hwan; Kim, Hyo Sang; Kim, Myeong Ok

    2013-10-01

    Acute multiple cranial neuropathies are considered as variant of Guillain-Barre syndrome, which are immune-mediated diseases triggered by various cases. It is a rare disease which is related to infectious, inflammatory or systemic diseases. According to previous case reports, those affected can exhibit almost bilateral facial nerve palsy, then followed by bulbar dysfunctions (cranial nerves IX and X) accompanied by limb weakness and walking difficulties due to motor and/or sensory dysfunctions. Furthermore, reported cases of the acute multiple cranial neuropathies show electrophysiological abnormalities compatible with the typical Guillain-Barre syndromes (GBS). We recently experienced a patient with a benign infectious disease who subsequently developed symptoms of variant GBS. Here, we describe the case of a 48-year-old male patient who developed multiple symptoms of cranial neuropathy without limb weakness. His laboratory findings showed a positive result for anti-GQ1b IgG antibody. As compared with previously described variants of GBS, the patient exhibited widespread cranial neuropathy, which included neuropathies of cranial nerves III-XII, without limb involvement or ataxia.

  14. Subacute peripheral and optic neuropathy syndrome with no evidence of a toxic or nutritional cause.

    Science.gov (United States)

    Allen, D; Riordan-Eva, P; Paterson, R W; Hadden, R D M

    2013-08-01

    The syndrome of subacute simultaneous peripheral neuropathy and bilateral optic neuropathy is known to occur in tropical countries, probably due to malnutrition or toxicity, but not often seen in developed countries. We report seven patients in London who were not malnourished or alcoholic, and in whom no clear cause was found. We retrospectively reviewed the case notes and arranged some further investigations. All patients developed peripheral and bilateral optic neuropathy within 6 months. Patients were aged 30-52, and all of Jamaican birth and race but lived in the UK. Most had subacute, painful ataxic sensory axonal neuropathy or neuronopathy, some with myelopathy. Nerve conduction studies revealed minor demyelinating features in two cases. The optic neuropathy was symmetrical, subacute and monophasic, usually with marked reduction in visual acuity. CSF protein concentration was usually elevated but other laboratory investigations were normal. Patients showed only modest improvement at follow-up. These patients share a common clinical and electrophysiological phenotype, age, ethnicity and elevated CSF protein, but otherwise normal laboratory investigations. The syndrome is a cause of significant morbidity in young people. The cause remains uncertain despite thorough investigation. Copyright © 2013 Elsevier B.V. All rights reserved.

  15. Sensory, digestion, and texture quality of commercial gluten-free bread: Impact of broken rice flour type.

    Science.gov (United States)

    Feizollahi, Ehsan; Mirmoghtadaie, Leila; Mohammadifar, Mohammad Amin; Jazaeri, Sahar; Hadaegh, Haleh; Nazari, Bahman; Lalegani, Sajjad

    2018-02-08

    This research investigated the effects of two varieties of broken rice (Khouzestan and Lenjan) from warm and dry regions, and two (Hashemi and Tarom) from mild and humid regions on different parameters including dough rheology, digestibility, and quality (color, specific volume, textural properties, and sensorial properties) of a commercial gluten-free bread (GFB). Furthermore, the rice varieties' hydration properties, gelatinization temperatures, and starch-granule morphology were assessed. Significant differences were observed in the varieties' proximate composition and hydration properties from both climate zones. The granules' average size was 3.17-4.9 µm. The specific volume of the breads showed no correlation with either the damaged starch content or the amylose content, but had a significant negative correlation with hardness (r = -.923, p variety in Iran, was the most appropriate variety for GFB production. Moreover, it was determined that the rice varieties currently used in commercial manufacture of gluten-free bread do not necessarily yield the highest-quality bread. Gluten-free breads (GFBs) are generally used by Coeliac patients. In comparison to wheat bread, the quality of GFBs is lower. Rice is one of the main ingredients of GFBs' formulation, thence by determining the quality-related features of the rice, improvement in the final product could be achieved. In addition, by implementing the cheap and the broken rice variety, the price of the final product could be decreased and be more affordable for the patients. © 2018 Wiley Periodicals, Inc.

  16. Profound and persistent painful paclitaxel peripheral neuropathy in a premenopausal patient.

    LENUS (Irish Health Repository)

    Quintyne, K I

    2011-01-01

    The authors herein report the case of a 35-year-old woman undergoing adjuvant therapy for node positive breast cancer, who presented with short and rapidly progressive history of bilateral lower limb symptoms of peripheral neuropathy following therapy with paclitaxel. MRI of her neural axis revealed no leptomeningeal enhancement or focal metastatic lesions. Neurophysiological tests favoured toxic sensory axonal polyneuropathy. She remains symptomatic following discontinuation of therapy 20 months ago, and is under review with pain management.

  17. Multiple Cranial Neuropathies Without Limb Involvements: Guillain-Barre Syndrome Variant?

    OpenAIRE

    Yu, Ju Young; Jung, Han Young; Kim, Chang Hwan; Kim, Hyo Sang; Kim, Myeong Ok

    2013-01-01

    Acute multiple cranial neuropathies are considered as variant of Guillain-Barre syndrome, which are immune-mediated diseases triggered by various cases. It is a rare disease which is related to infectious, inflammatory or systemic diseases. According to previous case reports, those affected can exhibit almost bilateral facial nerve palsy, then followed by bulbar dysfunctions (cranial nerves IX and X) accompanied by limb weakness and walking difficulties due to motor and/or sensory dysfunction...

  18. Autonomic neuropathy induced by cisplatin and vincristine in rats: functional study, electrophysiological and morphological

    OpenAIRE

    KÃtia VirgÃnia Viana Cardoso

    2011-01-01

    Introduction: Chemotherapeutic agents are chemical compounds used for the treatment of cancer. The efficacy of chemotherapy is limited by its side effects such as nephro, neuro, hepato and ototoxicity. Cisplatin and vincristine are chemotherapy drugs and their use is limited by peripheral neuropathy with autonomic, sensory and/or motor involvement. Aims: We evaluated the effect of cisplatin and vincristine on the gastric emptying (GE), gastrointestinal (GI) transit of liquid, baroreflex funct...

  19. Peripheral Neuropathy in Chlamydia Reactive Arthritis

    Directory of Open Access Journals (Sweden)

    O.V. Syniachenko

    2016-09-01

    Full Text Available Relevance. Peripheral neuropathy (PNP in urogenital chlamydia reactive arthritis (CRA is described as single observations, and many clinical and pathogenetic aspects of this lesion of the nervous system remain unclear. Objective of the study: to evaluate the incidence and nature of the clinical course of PNP in CRA, the connection of the nerve and joint injuries, to explore the questions of pathogenetic constructions of this neuropathy, to identify risk factors. Material and methods. We observed 101 patients with CRA, mean age of them was 32 years, disease duration — 4 years, and the male to female ratio — 1 : 1. In 90 % of CRA cases, Chlamydia trochamatis was found in prostatic secretions, in scraps from the urethra, the cervix, the vaginal wall, in 83 % — positive serologic tests for chlamydia infection. Results. Signs of PNP in CRA were in 19 % of patients in the ratio of mononeuropathy to polyneuropathy as 1 : 1, with motor, sensory and mixed disorders in a ratio of 1 : 3 : 6, the presence of autonomic changes in every second patient and more frequent distal localization of the process in the hands, which is influenced by the severity of the articular syndrome, high levels of antichlamydia antibodies in the blood, and the axonal and demyelinating indicators of electroneuromyography — by the severity of urogenital lesions and the presence of Guillain-Barre syndrome. A high rate of arthritis progression is a prognosis-negative sign of PNP course in patients with CRA. The pathogenic constructions of PNP involve the inflammatory immune proteins, disturbances of vascular endothelial function and physicochemical surface rheological pro­perties of the serum. Conclusion. PNP takes place in every fifth patient with CRA, correlates with clinical and laboratory signs of joint disease, and in the future will be useful to identify actively this pathology of the nervous system for the subsequent timely rehabilitation, and CRA

  20. Recurrence Quantification Analysis of F-Waves and the Evaluation of Neuropathies

    Directory of Open Access Journals (Sweden)

    Morris A. Fisher

    2015-01-01

    Full Text Available Electrodiagnostic (EDX patterns of neuropathic dysfunction have been based on axonal/demyelinating criteria requiring prior assumptions. This has not produced classifications of desired sensitivity or specificity. Furthermore, standard nerve conduction studies have limited reproducibility. New methodologies in EDX seem important. Recurrent Quantification Analysis (RQA is a nonlinear method for examining patterns of recurrence. RQA might provide a unique method for the EDX evaluation of neuropathies. RQA was used to analyze F-wave recordings from the abductor hallucis muscle in 61 patients with neuropathies. Twenty-nine of these patients had diabetes as the sole cause of their neuropathies. In the other 32 patients, the etiologies of the neuropathies were diverse. Commonly used EDX variables were also recorded. RQA data could separate the 29 patients with diabetic neuropathies from the other 32 patients (P<0.009. Statistically significant differences in two EDX variables were also present: compound muscle action potential amplitudes (P<0.007 and F-wave persistence (P<0.001. RQA analysis of F-waves seemed able to distinguish diabetic neuropathies from the other neuropathies studied, and this separation was associated with specific physiological abnormalities. This study would therefore support the idea that RQA of F-waves can distinguish between types of neuropathic dysfunction based on EDX data alone without prior assumptions.

  1. Dorsal root ganglia microenvironment of female BB Wistar diabetic rats with mild neuropathy.

    Science.gov (United States)

    Zochodne, D W; Ho, L T; Allison, J A

    1994-12-01

    Abnormalities in the microenvironment of dorsal root ganglia (DRG) might play a role in the pathogenesis of sensory abnormalities in human diabetic neuropathy. We examined aspects of DRG microenvironment by measuring local blood flow and oxygen tension in the L4 dorsal root ganglia of female BB Wistar (BBW) diabetic rats with mild neuropathy. The findings were compared with concurrent measurements of local sciatic endoneurial blood flow and oxygen tension. Diabetic rats were treated with insulin and underwent electrophysiological, blood flow and oxygen tension measurements at either 7-11 or 17-23 weeks after the development of glycosuria. Nondiabetic female BB Wistar rats from the same colony served as controls. At both ages, BBW diabetic rats had significant abnormalities in sensory, but not motor conduction compared to nondiabetic controls. Sciatic endoneurial blood flow in the diabetic rats of both ages was similar to control values, but the older (17-23 week diabetic) BBW diabetic rats had a selective reduction in DRG blood flow. Sciatic endoneurial oxygen tensions were not significantly altered in the diabetic rats. DRG oxygen tension appeared lowered in younger (7-11 week diabetic) but not older (17-23 week diabetic) BBW rats. Our findings indicate that there are important changes in the DRG microenvironment of diabetic rats with selective sensory neuropathy.

  2. Imaging of neuropathies about the hip

    Energy Technology Data Exchange (ETDEWEB)

    Martinoli, Carlo, E-mail: carlo.martinoli@unige.it [Radiologia – DISC, Università di Genova, Largo Rosanna Benzi 8, I-16132 Genoa (Italy); Miguel-Perez, Maribel [Unit of Human Anatomy and Embryology, Department of Pathology and Experimental Therapy, Faculty of Medicine (C Bellvitge), University of Barcelona, Barcelona (Spain); Padua, Luca [Fondazione Don Gnocchi Onlus and Department of Neurology, Policlinico “A. Gemelli”, Università Cattolica del Sacro Cuore, Rome (Italy); Gandolfo, Nicola [IM2S – Institut Monégasque de Médecine and Chirurgie Sportive, Montecarlo (Monaco); Zicca, Anna [Radiologia – DISC, Università di Genova, Largo Rosanna Benzi 8, I-16132 Genoa (Italy); Tagliafico, Alberto [Radiologia – National Institute for Cancer Research, Genoa (Italy)

    2013-01-15

    Neuropathies about the hip may be cause of chronic pain and disability. In most cases, these conditions derive from mechanical or dynamic compression of a segment of a nerve within a narrow osteofibrous tunnel, an opening in a fibrous structure, or a passageway close to a ligament or a muscle. Although the evaluation of nerve disorders primarily relies on neurological examination and electrophysiology, diagnostic imaging is currently used as a complement to help define the site and aetiology of nerve compression and exclude other disease possibly underlying the patient’ symptoms. Diagnosis of entrapment neuropathies about the hip with US and MR imaging requires an in-depth knowledge of the normal imaging anatomy and awareness of the anatomic and pathologic factors that may predispose or cause a nerve injury. Accordingly, the aim of this article is to provide a comprehensive review of hip neuropathies with an emphasis on the relevant anatomy, aetiology, clinical presentation, and their imaging appearance. The lateral femoral cutaneous neuropathy (meiralgia paresthetica), femoral neuropathy, sciatic neuropathy, obturator neuropathy, superior and inferior gluteal neuropathies and pudendal neuropathy will be discussed.

  3. Neurophysiological, histological and immunohistochemical characterization of bortezomib-induced neuropathy in mice.

    Science.gov (United States)

    Bruna, Jordi; Udina, Esther; Alé, Albert; Vilches, Jorge J; Vynckier, Ann; Monbaliu, Johan; Silverman, Lee; Navarro, Xavier

    2010-06-01

    Bortezomib, a proteasome inhibitor, is an antineoplastic drug to treat multiple myeloma and mantle cell lymphoma. Its most clinically significant adverse event is peripheral sensory neuropathy. Our objective was to characterize the neuropathy induced by bortezomib in a mouse model. Two groups were used; one group received vehicle solution and another bortezomib (1mg/kg/twice/week) for 6weeks (total dose as human schedule). Tests were performed during treatment and for 4weeks post dosing to evaluate electrophysiological, autonomic, pain sensibility and sensory-motor function changes. At the end of treatment and after washout, sciatic and tibial nerves, dorsal ganglia and intraepidermal innervation were analyzed. Bortezomib induced progressive significant decrease of sensory action potential amplitude, mild reduction of sensory velocities without effect in motor conductions. Moreover, it significantly increased pain threshold and sensory-motor impairment at 6weeks. According to these data, histopathological findings shown a mild reduction of myelinated (-10%; p=0.001) and unmyelinated fibers (-27%; p=0.04), mostly involving large and C fibers, with abnormal vesicular inclusion body in unmyelinated axons. Neurons were also involved as shown by immunohistochemical phenotypic switch. After washout, partial recovery was observed in functional, electrophysiological and histological analyses. These results suggest that axon and myelin changes might be secondary to an initial dysfunctional neuronopathy. Copyright (c) 2009 Elsevier Inc. All rights reserved.

  4. Effect of Various Types of Herbs on Sensory Properties and Blood Glucosa Response Adan Instant Black Rice

    Directory of Open Access Journals (Sweden)

    Bernatal Saragih

    2013-06-01

    Full Text Available Normal 0 false false false IN X-NONE X-NONE Management based on the carbohydrate diet is very important to do and not to be avoided but how diet and variations of carbohydrate consumed is set mainly the source of rice that does not fast respond to an increase in blood glucose. Therefore, Evaluation of nutritional and instant rice production that is the functional food and have a low glycemic index rice sourced locally as the East Kalimantan native rice black Adan will be very beneficial for health. The aim of this research was to evaluate of the nutritional and effect of various herbal on sensory properties and blood glucose response Adan instant black rice. Adan black rice has a protein content of 8.10%, Fe 3.61 mg/1000g and 3.33 g/100g total dietary fiber and includes a group of rice with low amylose. Organoleptic value of instant rice black Adan produced the most preferred by panellists also from the addition of ginger extract and pandan leaves , water, onion tiwai, tea and last turmeric. The digestibility of starch decreased 19.04 (mg/1000g after being a functional of instant rice black Adan. Difference in reduction of blood glucose levels in volunteers who consumed black Adan instant rice by 14.20 mg/dL, whereas the provision of a reference food (glucose of 71.50 mg/dL, this indicates of instant rice functional black Adan provide availability of glucose in the blood longer available.

  5. Recombination hot spot in 3.2-kb region of the Charcot-Marie Tooth type 1A repeat sequences: New tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A

    Energy Technology Data Exchange (ETDEWEB)

    Lopes, J.; LeGuern, E.; Gouider, R.; Tardieu, S.; Abbas, N. [Hopital de la Salpetriere, Paris (France)] [and others

    1996-06-01

    Charcot-Marie-Tooth type 1A (CMT1A) disease and hereditary neuropathy with liability to pressure palsies (HNPP) are autosomal dominant neuropathies, associated, respectively, with duplications and deletions of the same 1.5-Mb region on 17p11.2-p12. These two rearrangements are the reciprocal products of an unequal meiotic crossover between the two chromosome 17 homologues, caused by the misalignment of the CMT1A repeat sequences (CMT1A-REPs), the homologous sequences flanking the 1.5-Mb CMT1A/HNPP monomer unit. In order to map recombination breakpoints within the CMT1A-REPs, a 12.9-kb restriction map was constructed from cloned EcoRI fragments of the proximal and distal CMT1A-REPs. Only 3 of the 17 tested restriction sites were present in the proximal CMT1A-REP but absent in the distal CMT1A-REP, indicating a high degree of homology between these sequences. The rearrangements were mapped in four regions of the CMT1A-REPs by analysis of 76 CMT1A index cases and 38 HNPP patients, who were unrelated. A hot spot of crossover breakpoints located in a 3.2-kb region accounted for three-quarters of the rearrangements, detected after EcoRI/SacI digestion, by the presence of 3.2-kb and 7.8-kb junction fragments in CMT1A and HNPP patients, respectively. These junction fragments, which can be detected on classical Southern blots, permit molecular diagnosis. Other rearrangements can also be detected by gene dosage on the same Southern blots. 25 refs., 4 figs., 2 tabs.

  6. Inspection methods progression of diabetic optic neuropathy

    Directory of Open Access Journals (Sweden)

    Yan Sun

    2015-06-01

    Full Text Available Increasing incidence of diabetes, diet restructuring with excessive intake of high-calorie foods closely related with this. Currently diabetes prevalence rate increased from 7% in 2003 to 14% in 2010. Diabetes can cause a variety of eye diseases, such as corneal ulcers, glaucoma, vitreous hemorrhage and so on. Diabetic retinopathy and cataract are the most common and greater impact on patients. At present, study for diabetic retinopathy(DRis wider than diabetes optic neuropathy(DON. Clinical manifestations of DON are not specific, but DON occurred extensively, also contributed to an important cause of blindness.In this paper, we collected a variety of inspection and early diagnosis methods, try to achieve early detection, interventional therapy and good treatment for this disease. Here to make a presentation on the various types of inspection methods.

  7. Co-cultures with stem cell-derived human sensory neurons reveal regulators of peripheral myelination.

    Science.gov (United States)

    Clark, Alex J; Kaller, Malte S; Galino, Jorge; Willison, Hugh J; Rinaldi, Simon; Bennett, David L H

    2017-04-01

    See Saporta and Shy (doi:10.1093/awx048) for a scientific commentary on this article.Effective bidirectional signalling between axons and Schwann cells is essential for both the development and maintenance of peripheral nerve function. We have established conditions by which human induced pluripotent stem cell-derived sensory neurons can be cultured with rat Schwann cells, and have produced for the first time long-term and stable myelinating co-cultures with human neurons. These cultures contain the specialized domains formed by axonal interaction with myelinating Schwann cells, such as clustered voltage-gated sodium channels at the node of Ranvier and Shaker-type potassium channel (Kv1.2) at the juxtaparanode. Expression of type III neuregulin-1 (TIIINRG1) in induced pluripotent stem cell-derived sensory neurons strongly enhances myelination, while conversely pharmacological blockade of the NRG1-ErbB pathway prevents myelination, providing direct evidence for the ability of this pathway to promote the myelination of human sensory axons. The β-secretase, BACE1 is a protease needed to generate active NRG1 from the full-length form. Due to the fact that it also cleaves amyloid precursor protein, BACE1 is a therapeutic target in Alzheimer's disease, however, consistent with its role in NRG1 processing we find that BACE1 inhibition significantly impairs myelination in our co-culture system. In order to exploit co-cultures to address other clinically relevant problems, they were exposed to anti-disialosyl ganglioside antibodies, including those derived from a patient with a sensory predominant, inflammatory neuropathy with mixed axonal and demyelinating electrophysiology. The co-cultures reveal that both mouse and human disialosyl antibodies target the nodal axolemma, induce acute axonal degeneration in the presence of complement, and impair myelination. The human, neuropathy-associated IgM antibody is also shown to induce complement-independent demyelination

  8. Sensory analysis of pet foods.

    Science.gov (United States)

    Koppel, Kadri

    2014-08-01

    Pet food palatability depends first and foremost on the pet and is related to the pet food sensory properties such as aroma, texture and flavor. Sensory analysis of pet foods may be conducted by humans via descriptive or hedonic analysis, pets via acceptance or preference tests, and through a number of instrumental analysis methods. Sensory analysis of pet foods provides additional information on reasons behind palatable and unpalatable foods as pets lack linguistic capabilities. Furthermore, sensory analysis may be combined with other types of information such as personality and environment factors to increase understanding of acceptable pet foods. Most pet food flavor research is proprietary and, thus, there are a limited number of publications available. Funding opportunities for pet food studies would increase research and publications and this would help raise public awareness of pet food related issues. This mini-review addresses current pet food sensory analysis literature and discusses future challenges and possibilities. © 2014 Society of Chemical Industry.

  9. The Pain in Neuropathy Study (PiNS): a cross-sectional observational study determining the somatosensory phenotype of painful and painless diabetic neuropathy

    Science.gov (United States)

    Themistocleous, Andreas C.; Ramirez, Juan D.; Shillo, Pallai R.; Lees, Jonathan G.; Selvarajah, Dinesh; Orengo, Christine; Tesfaye, Solomon; Rice, Andrew S.C.; Bennett, David L.H.

    2016-01-01

    Abstract Disabling neuropathic pain (NeuP) is a common sequel of diabetic peripheral neuropathy (DPN). We aimed to characterise the sensory phenotype of patients with and without NeuP, assess screening tools for NeuP, and relate DPN severity to NeuP. The Pain in Neuropathy Study (PiNS) is an observational cross-sectional multicentre study. A total of 191 patients with DPN underwent neurological examination, quantitative sensory testing, nerve conduction studies, and skin biopsy for intraepidermal nerve fibre density assessment. A set of questionnaires assessed the presence of pain, pain intensity, pain distribution, and the psychological and functional impact of pain. Patients were divided according to the presence of DPN, and thereafter according to the presence and severity of NeuP. The DN4 questionnaire demonstrated excellent sensitivity (88%) and specificity (93%) in screening for NeuP. There was a positive correlation between greater neuropathy severity (r = 0.39, P painful DPN, for instance, stratification of patients with DPN for analgesic drug trials. PMID:27088890

  10. Les neuropathies peripheriques associees a l'infection a VIH ...

    African Journals Online (AJOL)

    Contexte et justification: L'infection à VIH a pris d'ampleur au Togo et en Afrique subsaharienne. Les neuropathies périphériques (NP) constituent l'une des manifestations neurologiques les plus couramment décrites au cours de cette infection. But de l'étude: Déterminer la fréquence et les différents types de NP liées au ...

  11. Effects of retail style or food service style packaging type and storage time on sensory characteristics of bacon manufactured from commercially sourced pork bellies.

    Science.gov (United States)

    Lowe, B K; Bohrer, B M; Holmer, S F; Boler, D D; Dilger, A C

    2014-06-01

    Objectives were to characterize differences in pork bellies that were stored frozen for different durations prior to processing and characterize sensory properties of the bacon derived from those bellies when stored in either retail or food service style packaging. Bellies (n = 102) were collected from 4 different time periods, fresh bellies (never frozen) and bellies frozen for 2, 5, or 7 mo, and manufactured into bacon under commercial conditions. Food service bacon was packaged in oxygen-permeable polyvinyl lined boxes layered on wax-covered lined paper and blast frozen (-33 °C) for 45 or 90 d after slicing. Retail bacon was vacuum-packaged in retail packages and refrigerated (2 °C) in the dark for 60 or 120 d after slicing. At the end of respective storage times after slicing, bacon was analyzed for sensory attributes and lipid oxidation. Off-flavor and oxidized odor of bacon increased (P bacon from frozen bellies, but was unchanged (P ≥ 0.07) with time in food service packaged bacon from fresh bellies. Lipid oxidation was also unchanged (P ≥ 0.21) over time in retail packaged bacon, with the exception of bellies frozen for 5 mo, which was increased from day 0 to day 90. Overall, off-flavor, oxidized odor, and lipid oxidation increased as storage time after processing increased. Freezing bellies before processing may exacerbate lipid oxidation as storage time after processing was extended. Bacon can be packaged and managed several different ways before it reaches the consumer. This research simulated food service (frozen) and retail packaged (refrigerated) bacon over a range of storage times after slicing. Off-flavor and oxidized odor increased as storage time after processing increased in both packaging types. Lipid oxidation increased as storage time after slicing increased to a greater extent in food service packaging. © 2014 Institute of Food Technologists®

  12. Role of stretch therapy in comprehensive physical habilitation of patients with Charcot–Marie–Tooth hereditary neuropathy

    Directory of Open Access Journals (Sweden)

    N. A. Shnayder

    2015-01-01

    Full Text Available Charcot–Marie–Tooth hereditary neuropathy (Charcot–Marie–Tooth disease, CMT is the most common form of hereditary neuropathies, accompanied by sensory disorders, progressive muscle weakness with the formation of disabling contractures of the limbs. Currently, the main treatment program is effective CMT habilitation, which can prevent the development of limb deformities and thereby improve the life quality of the patient. Stretch therapy is one of the most effective methods of prevention and treatment of contractures in patients with CMT. This article provides a brief review of the literature regarding the use of stretching as physical therapy program of CMT habilitation.

  13. Immunoglobulin deposits in peripheral nerve endings detected by skin biopsy in patients with IgM M proteins and neuropathy

    DEFF Research Database (Denmark)

    Jønsson, V; Jensen, T S; Friis, M L

    1987-01-01

    Immunofluorescence studies of sural nerve and skin biopsies from three patients with IgM M proteins and clinical neuropathy showed that IgM M protein was bound to the nerve myelin in two patients and by the peri- and endoneurium in one. It is suggested that immunohistochemical studies of skin...... biopsies provide a simple effective method of detecting immunoglobulin binding to peripheral nerves in patients suspected of having an autoimmune neuropathy. In contrast to sural nerve biopsy, skin biopsy does not cause sensory loss or pain in a denervated area and can easily be repeated....

  14. Impact of spinal cord stimulation on sensory characteristics in complex regional pain syndrome type I - A randomized trial

    NARCIS (Netherlands)

    Kemler, MA; Reulen, JPH; Barendse, GAM; van Kleef, M; de Vet, HCW; van den Wildenberg, FAJM

    Background: A randomized trial was performed to assess the effect of spinal cord stimulation (SCS) on detection and pain thresholds for pressure, warmth, and cold and on the extent of mechanical hyperalgesia in patients with chronic complex regional pain syndrome type I. Methods: Fifty-four chronic

  15. Fibromyalgia and neuropathic pain - differences and similarities. A comparison of 3057 patients with diabetic painful neuropathy and fibromyalgia

    Directory of Open Access Journals (Sweden)

    Tölle Thomas R

    2011-05-01

    Full Text Available Abstract Background Patients with diabetic neuropathy (DPN and fibromyalgia differ substantially in pathogenetic factors and the spatial distribution of the perceived pain. We questioned whether, despite these obvious differences, similar abnormal sensory complaints and pain qualities exist in both entities. We hypothesized that similar sensory symptoms might be associated with similar mechanisms of pain generation. The aims were (1 to compare epidemiological features and co-morbidities and (2 to identify similarities and differences of sensory symptoms in both entities. Methods The present multi-center study compares epidemiological data and sensory symptoms of a large cohort of 1434 fibromyalgia patients and 1623 patients with painful diabetic neuropathy. Data acquisition included standard demographic questions and self-report questionnaires (MOS sleep scale, PHQ-9, PainDETECT. To identify subgroups of patients with characteristic combinations of symptoms (sensory profiles a cluster analysis was performed using all patients in both cohorts. Results Significant differences in co-morbidities (depression, sleep disturbance were found between both disorders. Patients of both aetiologies chose very similar descriptors to characterize their sensory perceptions. Burning pain, prickling and touch-evoked allodynia were present in the same frequency. Five subgroups with distinct symptom profiles could be detected. Two of the subgroups were characteristic for fibromyalgia whereas one profile occurred predominantly in DPN patients. Two profiles were found frequently in patients of both entities (20-35%. Conclusions DPN and fibromyalgia patients experience very similar sensory phenomena. The combination of sensory symptoms - the sensory profile - is in most cases distinct and almost unique for each one of the two entities indicating aetiology-specific mechanisms of symptom generation. Beside the unique aetiology-specific sensory profiles an overlap of

  16. Fibromyalgia and neuropathic pain - differences and similarities. A comparison of 3057 patients with diabetic painful neuropathy and fibromyalgia

    Science.gov (United States)

    2011-01-01

    Background Patients with diabetic neuropathy (DPN) and fibromyalgia differ substantially in pathogenetic factors and the spatial distribution of the perceived pain. We questioned whether, despite these obvious differences, similar abnormal sensory complaints and pain qualities exist in both entities. We hypothesized that similar sensory symptoms might be associated with similar mechanisms of pain generation. The aims were (1) to compare epidemiological features and co-morbidities and (2) to identify similarities and differences of sensory symptoms in both entities. Methods The present multi-center study compares epidemiological data and sensory symptoms of a large cohort of 1434 fibromyalgia patients and 1623 patients with painful diabetic neuropathy. Data acquisition included standard demographic questions and self-report questionnaires (MOS sleep scale, PHQ-9, PainDETECT). To identify subgroups of patients with characteristic combinations of symptoms (sensory profiles) a cluster analysis was performed using all patients in both cohorts. Results Significant differences in co-morbidities (depression, sleep disturbance) were found between both disorders. Patients of both aetiologies chose very similar descriptors to characterize their sensory perceptions. Burning pain, prickling and touch-evoked allodynia were present in the same frequency. Five subgroups with distinct symptom profiles could be detected. Two of the subgroups were characteristic for fibromyalgia whereas one profile occurred predominantly in DPN patients. Two profiles were found frequently in patients of both entities (20-35%). Conclusions DPN and fibromyalgia patients experience very similar sensory phenomena. The combination of sensory symptoms - the sensory profile - is in most cases distinct and almost unique for each one of the two entities indicating aetiology-specific mechanisms of symptom generation. Beside the unique aetiology-specific sensory profiles an overlap of sensory profiles can be

  17. Muscular atrophy in diabetic neuropathy

    DEFF Research Database (Denmark)

    Andersen, H; Gadeberg, P C; Brock, B

    1997-01-01

    Diabetic patients with polyneuropathy develop motor dysfunction. To establish whether motor dysfunction is associated with muscular atrophy the ankle dorsal and plantar flexors of the non-dominant leg were evaluated with magnetic resonance imaging in 8 patients with symptomatic neuropathy, in 8 non...... confirmed that the atrophy predominated distally. We conclude that muscular atrophy underlies motor weakness at the ankle in diabetic patients with polyneuropathy and that the atrophy is most pronounced in distal muscles of the lower leg indicating that a length dependent neuropathic process explains...

  18. Dietary reversal of neuropathy in a murine model of prediabetes and metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Lucy M. Hinder

    2017-06-01

    Full Text Available Patients with metabolic syndrome, which is defined as obesity, dyslipidemia, hypertension and impaired glucose tolerance (IGT, can develop the same macro- and microvascular complications as patients with type 2 diabetes, including peripheral neuropathy. In type 2 diabetes, glycemic control has little effect on the development and progression of peripheral neuropathy, suggesting that other metabolic syndrome components may contribute to the presence of neuropathy. A parallel phenomenon is observed in patients with prediabetes and metabolic syndrome, where improvement in weight and dyslipidemia more closely correlates with restoration of nerve function than improvement in glycemic status. The goal of the current study was to develop a murine model that resembles the human condition. We examined longitudinal parameters of metabolic syndrome and neuropathy development in six mouse strains/genotypes (BKS-wt, BKS-Leprdb/+, B6-wt, B6-Leprdb/+, BTBR-wt, and BTBR-Lepob/+ fed a 54% high-fat diet (HFD; from lard. All mice fed a HFD developed large-fiber neuropathy and IGT. Changes appeared early and consistently in B6-wt mice, and paralleled the onset of neuropathy. At 36 weeks, B6-wt mice displayed all components of the metabolic syndrome, including obesity, IGT, hyperinsulinemia, dyslipidemia and oxidized low density lipoproteins (oxLDLs. Dietary reversal, whereby B6-wt mice fed a HFD from 4-20 weeks of age were switched to standard chow for 4 weeks, completely normalized neuropathy, promoted weight loss, improved insulin sensitivity, and restored LDL cholesterol and oxLDL by 50% compared with levels in HFD control mice. This dietary reversal model provides the basis for mechanistic studies investigating peripheral nerve damage in the setting of metabolic syndrome, and ultimately the development of mechanism-based therapies for neuropathy.

  19. Confocal Cornea Microscopy Detects Involvement of Corneal Nerve Fibers in a Patient with Light-Chain Amyloid Neuropathy Caused by Multiple Myeloma: A Case Report

    Directory of Open Access Journals (Sweden)

    Dietrich Sturm

    2016-06-01

    Full Text Available Changes in the subbasal corneal plexus detected by confocal cornea microscopy (CCM have been described for various types of neuropathy. An involvement of these nerves within light-chain (AL amyloid neuropathy (a rare cause of polyneuropathy has never been shown. Here, we report on a case of a patient suffering from neuropathy caused by AL amyloidosis and underlying multiple myeloma. Small-fiber damage was detected by CCM.

  20. Autonomic neuropathy in diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Alberto eVerrotti

    2014-12-01

    Full Text Available Diabetic autonomic neuropathy (DAN is a serious and common complication of diabetes, often overlooked and misdiagnosed. It is a systemic-wide disorder that may be asymptomatic in the early stages. The most studied and clinically important form of DAN is cardiovascular autonomic neuropathy (CAN defined as the impairment of autonomic control of the cardiovascular system in patients with diabetes after exclusion of other causes. The reported prevalence of DAN varies widely depending on inconsistent definition, different diagnostic method, different patient cohorts studied. The pathogenesis is still unclear and probably multifactorial. Once DAN becomes clinically evident, no form of therapy has been identified which can effectively stop or reverse it. Prevention strategies are based on strict glycemic control with intensive insulin treatment, multifactorial intervention and lifestyle modification including control of hypertension, dyslipidemia, stop smoking, weight loss and adequate physical exercise. The present review summarizes the latest knowledge regarding clinical presentation, epidemiology, pathogenesis and management of DAN, with some mention to childhood and adolescent population.

  1. [Cardiovascular and pupillary autonomic and somatosensory neuropathy in chronic diseases with autoimmune phenomena. A comparative study of patients with Crohn disease, ulcerative colitis, systemic lupus erythematosus, progressive systemic sclerosis and type I diabetes mellitus].

    Science.gov (United States)

    Straub, R H; Andus, T; Lock, G; Zeuner, M; Palitzsch, K D; Gross, V; Lang, B; Schölmerich, J

    1997-11-15

    During the last years, examination of autonomic nervous function and of autonomic neuropathy has attracted attention not only in diabetes mellitus research but also in other areas of internal medicine. However, patients with various chronic diseases with autoimmune phenomenons have never been investigated in a comparative study with standardized examination techniques. Hence, the aim of the study was to examine the prevalence and the severity of autonomic neuropathy in patients with the following chronic diseases. We investigated 28 patients with Crohn's disease (CD: age: 32.4 +/- 2.0 y), 17 patients with ulcerative colitis (UC: 39.7 +/- 3.6 y), 39 patients with systemic lupus erythematosus (SLE: 34.9 +/- 2.0 y), 38 patients with progressive systemic sclerosis (pSS; 51.5 +/- 2.4 y) and 65 patients with insulin-dependent diabetes mellitus (IDDM: 35.5 +/- 1.6 y). Cardiovascular autonomic (cANP), pupillary autonomic (pANP), and sensorimotor (ssNP) neuropathy were assessed by standardized techniques. Prevalence rates for cANP, pANP and ssNP were found to be 0%, 19%, and 7% in CD, 6%, 25%, and 18% in UC, 5%, 29%, and 10% in SLE, 11%, 16%, and 32% in pSS, and 26%, 66%, and 29% in IDDM, respectively. The study demonstrated patients with IDDM to have the highest prevalence rates of cANP and pANP. Patients with other chronic diseases, particularly SLE, pSS and UC, had high prevalence rates of pANP. This may be due to alterations of structures of the central nervous system in these patients. cANP was rare in patients with inflammatory bowel disease and ssNP was found very often in patients with pSS, probably due to local fibrotic lesions. The various disease groups differ in the pattern and severity of autonomic and sensorimotor neuropathy, which indicates that different structures and neuropathogenic mechanisms may be involved.

  2. Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy.

    Directory of Open Access Journals (Sweden)

    Cheng-Tsung Hsiao

    Full Text Available A small group of patients with inherited neuropathy that has been shown to be caused by mutations in the BSCL2 gene. However, little information is available about the role of BSCL2 mutations in inherited neuropathies in Taiwan.Utilizing targeted sequencing, 76 patients with molecularly unassigned Charcot-Marie-Tooth disease type 2 (CMT2 and 8 with distal hereditary motor neuropathy (dHMN, who were selected from 348 unrelated patients with inherited neuropathies, were screened for mutations in the coding regions of BSCL2. Two heterozygous BSCL2 mutations, p.S90L and p.R96H, were identified, of which the p.R96H mutation is novel. The p.S90L was identified in a pedigree with CMT2 while the p.R96H was identified in a patient with apparently sporadic dHMN. In vitro studies demonstrated that the p.R96H mutation results in a remarkably low seipin expression and reduced cell viability.BSCL2 mutations account for a small number of patients with inherited neuropathies in Taiwan. The p.R96H mutation is associated with dHMN. This study expands the molecular spectrum of BSCL2 mutations and also emphasizes the pathogenic role of BSCL2 mutations in molecularly unassigned hereditary neuropathies.

  3. Supramaximal Stimulus Intensity as a Diagnostic Tool in Chronic Demyelinating Neuropathy

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    Vivien Parker

    2016-01-01

    Full Text Available Objective. The ability to correctly identify chronic demyelinating neuropathy can have important therapeutic and prognostic significance. The stimulus intensity value required to obtain a supramaximal compound muscle action potential amplitude is a commonly acquired data point that has not been formally assessed as a diagnostic tool in routine nerve conduction studies to identify chronic neuropathies. We postulated that this value was significantly elevated in chronic demyelinating neuropathy. Methods. We retrospectively reviewed electrophysiology laboratory records to compare the stimulus intensity values recorded during median and ulnar motor nerve conduction studies. The groups studied included normal controls (n=42 and the following diagnostic categories: chronic inflammatory demyelinating neuropathy (CIDP (n=20, acquired inflammatory demyelinating neuropathy (AIDP (n=13, Charcot Marie Tooth (CMT type 1 or 4C (n=15, carpal tunnel syndrome (CTS (n=11, and amyotrophic lateral sclerosis (ALS (n=18. Results. Supramaximal intensities were significantly higher in patients with CMT (median nerve: 43.4 mA and CIDP (median nerve: 38.9 mA, whereas values similar to normal controls (median nerve: 25.3 mA were obtained in ALS, CTS, and AIDP. Conclusions. Supramaximal stimulus intensity may be used as an additional criterion to identify the pathophysiology of neuropathy. We postulate that endoneurial hypertrophic changes may increase electrical impedance and thus the threshold of excitation at nodes of Ranvier.

  4. Painful diabetic neuropathy: diagnosis and management.

    Science.gov (United States)

    Hartemann, A; Attal, N; Bouhassira, D; Dumont, I; Gin, H; Jeanne, S; Said, G; Richard, J-L

    2011-11-01

    The prevalence of painful diabetic peripheral neuropathy (PDN) is about 20% in patients with type 2 diabetes and 5% in those with type 1. Patients should be systematically questioned concerning suggestive symptoms, as they are not usually volunteers. As PDN is due to small-fibre injury, the 10 g monofilament pressure test as well as the standard electrophysiological procedures may be normal. Diagnosis is based on clinical findings: type of pain (burning discomfort, electric shock-like sensation, aching coldness in the lower limbs); time of occurrence (mostly at rest and at night); and abnormal sensations (such as tingling or numbness). The DN4 questionnaire is an easy-to-use validated diagnostic tool. Three classes of drugs are of equal value in treating PDN: tricyclic antidepressants; anticonvulsants; and selective serotonin-reuptake inhibitors. These compounds may be prescribed as first-line therapy following pain assessment using a visual analogue scale. If the initial drug at its maximum tolerated dose does not lead to a decrease in pain of at least 30%, another drug class should be prescribed; if the pain is decreased by 30% but remains greater than 3/10, a drug from a different class may be given in association. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  5. Epidemiology of Peripheral Neuropathy: An Indian Perspective.

    Science.gov (United States)

    Trivedi, Sweety; Pandit, Alak; Ganguly, Goutam; Das, Shyamal Kumar

    2017-01-01

    Peripheral neuropathy (PN) is a common disorder and presents as diagnostic and therapeutic challenge to physicians and neurologists. In epidemiological studies from India from various regions the overall prevalence of PN varied from 5 to 2400 per 10,000 population in various community studies. India is composed of a multiethnic, multicultural population who are exposed to different adverse environmental factors such as arsenic and lead. Use of different chemotherapeutic agents with propensity to affect peripheral nerves, increasing methods of diagnosis of connective tissue disorders and use of immunomodulating drugs, growing aging population is expected to change the spectrum and burden of peripheral neuropathy in the community. The other important aspect of peripheral neuropathies is in terms of the geographical and occupational distribution especially of toxic neuropathies like arsenic which is common in eastern belt; lead, mercury and organo-phosphorous compounds where occupational exposures are major sources. Inflammatory neuropathies either due to vasculitis or G B Syndrome, chronic inflammatory polyradiculopathies are another major group of neuropathies which is increasing due to increase longevity of Indian subjects and immunological impairment, also adds to morbidity of the patients and are potentially treatable. Leprous neuropathy is common in India and although its frequency is significantly decreasing because of national control program yet pure neuritic form still remains a cause of concern and similar is the case with another infective cause like diptheric neurpathy. Thus this article is an attempt to cover major categories and also highlight the areas where further studies are needed.

  6. Vasculitic neuropathy in elderly: A study from a tertiary care university hospital in South India

    Directory of Open Access Journals (Sweden)

    Anish Lawrence

    2016-01-01

    Full Text Available Objective: To describe clinical, electrophysiological, and histopathological profile of vasculitic neuropathy in elderly subjects aged 65 years or more. Design: Retrospective chart review. Setting: Departments of Neurology and Neuropathology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India. Patients and Methods: Elderly subjects, diagnosed vasculitic neuropathy by nerve biopsy over one decade, were studied. Results: The cohort consisted of 46 subjects. Symptom duration was 21.54 ± 33.53 months. Onset was chronic in majority (82.6%. Key features included paresthesias (89%, weakness (80%, sensory loss (70%, wasting (63%, and relapsing-remitting course (6.5%. Most Common clinico-electrophysiological patterns were distal symmetrical sensorimotor polyneuropathy - 19, mononeuritis multiplex - 9, and asymmetric sensorimotor neuropathy - 10. Diagnosis of vasculitis was not suspected before biopsy in 31 (67.3%. Nerve biopsy revealed definite vasculitis - 12, probable - 10, and possible - 24. Treatment included immunomodulatory agents (41, symptomatic medications only (9, and antiretroviral therapy (1. Twenty-four patients were followed up for mean period of 6.5 months. Outcome at last follow-up was improved (13, unchanged (8, and worsened (3. Conclusion: Vasculitis is an important, treatable cause of neuropathy in elderly. Nerve biopsy should be used judiciously for early diagnosis and appropriate treatment.

  7. Cranial Neuropathy in Multiple Sclerosis

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    Mine Hayriye Sorgun

    2011-09-01

    Full Text Available OBJECTIVE: It has been reported that cranial neuropathy findings could be seen in the neurologic examination of multiple sclerosis (MS patients, although brain magnetic resonance imaging (MRI may not reveal any lesion responsible for the cranial nerve involvement. The aim of this study was to determine the frequency of brainstem and cranial nerve involvement, except for olfactory and optic nerves, during MS attacks, and to investigate the rate of an available explanation for the cranial neuropathy findings by lesion localization on brain MRI. METHODS: Ninety-five attacks of 86 MS patients were included in the study. The patients underwent a complete neurological examination, and cranial nerve palsies (CNP were determined during MS attacks. RESULTS: CNP were found as follows: 3rd CNP in 7 (7.4%, 4th CNP in 1 (1.1%, 5th CNP in 6 (6.3%, 6th CNP in 12 (12.6%, 7th CNP in 5 (5.3%, 8th CNP in 4 (4.2%, and 9th and 10th CNP in 2 (2.1% out of 95 attacks. Internuclear ophthalmoplegia (INO was detected in 5 (5.4%, nystagmus in 37 (38.9%, vertigo in 9 (6.3%, and diplopia in 14 (14.7% out of 95 attacks. Pons, mesencephalon and bulbus lesions were detected in 58.7%, 41.5% and 21.1% of the patients, respectively, on the brain MRI. Cranial nerve palsy findings could not be explained by the localization of the lesions on brainstem MRI in 5 attacks; 2 of them were 3rd CNP (1 with INO, 2 were 6th CNP and 1 was a combination of 6th, 7th and 8th CNP. CONCLUSION: The most frequently affected cranial nerve and brainstem region in MS patients is the 6th cranial nerve and pons, respectively. A few of the MS patients have normal brainstem MRI, although they have cranial neuropathy findings in the neurologic examination.

  8. Cranial Neuropathy in Multiple Sclerosis

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    Mine Hayriye Sorgun

    2011-09-01

    Full Text Available OBJECTIVE: It has been reported that cranial neuropathy findings could be seen in the neurologic examination of multiple sclerosis (MS patients, although brain magnetic resonance imaging (MRI may not reveal any lesion responsible for the cranial nerve involvement. The aim of this study was to determine the frequency of brainstem and cranial nerve involvement, except for olfactory and optic nerves, during MS attacks, and to investigate the rate of an available explanation for the cranial neuropathy findings by lesion localization on brain MRI. METHODS: Ninety-five attacks of 86 MS patients were included in the study. The patients underwent a complete neurological examination, and cranial nerve palsies (CNP were determined during MS attacks. RESULTS: CNP were found as follows: 3rd CNP in 7 (7.4%, 4th CNP in 1 (1.1%, 5th CNP in 6 (6.3%, 6th CNP in 12 (12.6%, 7th CNP in 5 (5.3%, 8th CNP in 4 (4.2%, and 9th and 10th CNP in 2 (2.1% out of 95 attacks. Internuclear ophthalmoplegia (INO was detected in 5 (5.4%, nystagmus in 37 (38.9%, vertigo in 9 (6.3%, and diplopia in 14 (14.7% out of 95 attacks. Pons, mesencephalon and bulbus lesions were detected in 58.7%, 41.5% and 21.1% of the patients, respectively, on the brain MRI. Cranial nerve palsy findings could not be explained by the localization of the lesions on brainstem MRI in 5 attacks; 2 of them were 3rd CNP (1 with INO, 2 were 6th CNP and 1 was a combination of 6th, 7th and 8th CNP. CONCLUSION: The most frequently affected cranial nerve and brainstem region in MS patients is the 6th cranial nerve and pons, respectively. A few of the MS patients have normal brainstem MRI, although they have cranial neuropathy findings in the neurologic examination

  9. [A patient of sensorimotor neuropathy with small cell lung carcinoma and anti-GM1 antibody].

    Science.gov (United States)

    Itou, Takashi; Enomoto, Setsu; Makita, Yoshihiro; Enomoto, Hiroyuki; Kuroda, Kenji; Kimura, Takashi; Hashimoto, Kazuki; Yahara, Osamu

    2002-09-01

    We reported a 62-year-old woman had sensorimotor neuropathy with small cell lung carcinoma (SCLC) and anti-GM1 antibody. She was admitted with several months history of progressive numbness, walking disturbance and anorexia. Neurologic examination revealed severe numbness and deep sensory disturbance of extremities and body, and mild weakness of distal extremities. Deep tendon reflexes were absent. Her limbs were ataxic. Nerve conduction studies showed no sensory evoked responses. CSF protein was elevated. Sural nerve biopsy revealed severe loss of myelinated fibers and perivascular mononuclear cells surrounding the perineurial vessel. Vasculitic neuropathy was diagnosed, and prednisolone was started, with no benefit. In the clinical course, she developed cough attacks and was found the lymphnode swelling in the mediastinum and supraclavicular fossa, which was diagnosed SCLC. Although anti-Hu antibody were not detected, anti-GM1 antibody was positive. She was treated with intravenous immunoglobulin, with transient improvement. The rare case of the paraneoplastic peripheral neuropathy with SCLC and anti-GM1 antibody was reported.

  10. Diagnostic capability of retinal thickness measures in diabetic peripheral neuropathy

    Directory of Open Access Journals (Sweden)

    Sangeetha Srinivasan

    2017-10-01

    Conclusions: The GCC FLV can differentiate individuals with diabetic neuropathy from healthy controls, while the inferior RNFL thickness is able to differentiate those with greater degrees of neuropathy from those with mild or no neuropathy, both with an acceptable level of accuracy. Optical coherence tomography represents a non-invasive technology that aids in detection of retinal structural changes in patients with established diabetic neuropathy. Further refinement of the technique and the analytical approaches may be required to identify patients with minimal neuropathy.

  11. Effects of fibre type and kefir, wine lemon, and pineapple marinades on texture and sensory properties of wild boar and deer longissimus muscle.

    Science.gov (United States)

    Żochowska-Kujawska, J; Lachowicz, K; Sobczak, M

    2012-12-01

    Fibre type percentage and changes in textural parameters, sensory properties as well as mean fibre cross sectional area (CSA), fibre shape, endomysium and perimysium thickness of wild boar and deer longissimus (L) muscle subjected to ageing with kefir, dry red wine, lemon and pineapple juice marinades for 4 days were studied. Among the non-marinated and non-aged samples of muscles it was found that wild boar meat with its higher percentage of red fibres, higher CSA, thicker connective tissue as compared with deer meat, was harder, more springy and stringy. Muscles ageing, regardless of methods, resulted in a decrease in both the CSA and thickness of the connective tissue, and improve in fibre shape. As a consequence ageing caused a reduction in hardness, cohesiveness, springiness, and stringiness as well as in augmentation of tenderness, juiciness and general attractiveness of the muscles studied. As demonstrated by obtained data, regardless of ageing methods, deer L muscle contained more white fibres compared to wild boar muscle, were more susceptible to tenderization. The highest structural and textural changes, but the worst general attractiveness was found in muscles marinated with pineapple juice addition. Insignificantly lower changes in both quality traits were found in muscles aged with kefir marinade which at the same time were characterized by the high tenderness, the highest juiciness and general attractiveness. Copyright © 2012 Elsevier Ltd. All rights reserved.

  12. Mild phenotype of Charcot-Marie-Tooth disease type 4B1.

    Science.gov (United States)

    Murakami, Tatsufumi; Kutoku, Yumiko; Nishimura, Hirotake; Hayashi, Makiko; Abe, Akiko; Hayasaka, Kiyoshi; Sunada, Yoshihide

    2013-11-15

    Charcot-Marie-Tooth type 4B1 (CMT4B1) is a rare autosomal recessive demyelinating neuropathy caused by mutation of the myotubularin-related 2 (MTMR2) gene. It is characterized by a severe early-onset motor and sensory neuropathy, and myelin outfoldings on nerve biopsy. We describe a mild phenotype of CMT4B1 in a Japanese patient. She noticed difficulty in walking as an initial symptom at age 13. Her symptoms progressed slowly, and she could still walk at age 34. There was no cranial neuropathy. A nerve conduction study demonstrated demyelinating neuropathy. Sural nerve biopsy revealed a moderate-to-severe loss of myelinated fibers, and many focally folded myelin sheaths. Electron micrographs showed myelin outfoldings and infoldings. DNA tests for CMT showed that she is a homozygote for the MTMR2 p.R628PfsX18 mutation. The mild phenotype in our patient is probably due to the C-terminal position of the frame-shift mutation in MTMR2. © 2013 Elsevier B.V. All rights reserved.

  13. Effect of method of secondary fermentation and type of base wine on physico-chemical and sensory qualities of sparkling plum wine

    Directory of Open Access Journals (Sweden)

    Vinod K Joshi

    1999-01-01

    Full Text Available Plum base wines prepared with potassium metabisulphite or sodium benzoate were converted into sparkling wine, either by `Methode Champenoise' or tank method with artificially carbonated wine serving as a control. In both the secondary fermentation methods ethanol and low temperature acclimatized yeast; Saccharomyces cerevisiae UCD-595 with optimized sugar (1.5% and di-ammonium hydrogen phosphate (0.2% were used. Both methods of sparkling wine production and the type of base wine affected the physico-chemical and sensory characteristics of the sparkling wine produced. In the secondary fermented wines, most of the physico-chemical characteristics were altered compared to that of artificially carbonated wines except volatile acidity, methanol, propanol and ethanol. Furthermore, these wines contained lower proteins, minerals and amyl alcohol than the base wine. In general, the sparkling wines produced by either of the secondary fermentation method had lower sugar, more alcohol, higher macro elements but lower Fe and Cu contents than the artificially carbonated wines. An overview of the changes occurring in the sparkling wine in comparison to artificially carbonated wine revealed that most of the changes took place due to secondary fermentation. The bottle fermented wine recorded the highest pressure, low TSS and sugars. The secondary bottle fermented wine was the best in most of the sensory qualities but needed proper acid-sugar blend of the base wine before conducting secondary fermentation. Sparkling wine made from base wine with sodium benzoate was preferred to that prepared with potassium metabisulphite. The studies showed the potential of plum fruits for production of sparkling wine.Os vinhos a base de ameixa preparado com metabisulfito de potássio ou benzoato de sódio foram convertidos em vinhos espumantes pelo método "Champenoise" ou método de tanque, usando vinho carbonatado artificialmente como controle. Em ambos métodos a fermenta

  14. Neuronal involvement in cisplatin neuropathy

    DEFF Research Database (Denmark)

    Krarup-Hansen, A; Helweg-Larsen, Susanne Elisabeth; Schmalbruch, H

    2007-01-01

    of large dorsal root ganglion cells. Motor conduction studies, autonomic function and warm and cold temperature sensation remained unchanged at all doses of cisplatin treatment. The results of these studies are consistent with degeneration of large sensory neurons whereas there was no evidence of distal...

  15. Rat model of cancer-induced bone pain: changes in nonnociceptive sensory neurons in vivo

    Directory of Open Access Journals (Sweden)

    Yong Fang Zhu

    2017-08-01

    Conclusion:. After induction of the CIBP model, Aβ-fiber LTMs at >2 weeks but not <1 week had undergone changes in electrophysiological properties. Importantly, changes observed are consistent with observations in models of peripheral neuropathy. Thus, Aβ-fiber nonnociceptive primary sensory neurons might be involved in the peripheral sensitization and tumor-induced tactile hypersensitivity in CIBP.

  16. Fibroblast growth factor type 1 receptor stimulation of T-type Ca2+channels in sensory neurons requires the phosphatidylinositol 3-kinase and protein kinase A pathways, independently of Akt.

    Science.gov (United States)

    Si, Weibing; Zhang, Yuan; Chen, Kun; Hu, Dan; Qian, Zhiyuan; Gong, Shan; Li, Hua; Hao, Yuefeng; Tao, Jin

    2018-01-31

    Fibroblast growth factor-23 (FGF-23) secreted by osteocytes is known as a circulating factor that is essential for phosphate homeostasis. Recent studies have implicated FGF-23 in the nociceptive signalling of peripheral sensory neurons. However, the relevant mechanisms underlying this effect are not known. In this study, we determine the role of FGF-23 in regulating T-type Ca 2+ channels (T-type channels) in small-diameter dorsal root ganglion (DRG) neurons in mice. Our results show that FGF-23 increases T-type channel currents in a concentration-dependent manner. This FGF-23-induced response was dependent on FGF type 1 receptor (FGFR1) and was accompanied by a depolarizing shift in the steady-state inactivation curve. Pretreatment of neurons with the phosphatidylinositol 3-kinase (PI3K) inhibitor LY294002 prevented the FGF-23-mediated T-type channel response. Analysis of phospho-Akt (p-Akt) revealed that FGF-23 significantly activated Akt, but Akt inhibition did not affect the FGF-23-induced T-type channel current increase. The cell-permeable protein kinase A (PKA) inhibitor KT-5720 pretreatment and intracellular application of PKI 6-22 both abolished the stimulatory effects of FGF-23 on T-type channels, but inhibition of PKC had no effect. In summary, these findings indicate that FGF-23 stimulates T-type channel activity via activation of FGFR1, which is coupled to the PI3K-dependent PKA signalling cascade in small DRG neurons. Copyright © 2018 Elsevier Inc. All rights reserved.

  17. Targeting the innate repair receptor to treat neuropathy

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    Albert Dahan

    2016-07-01

    Full Text Available Abstract. The innate repair receptor (IRR is a heteromer of the erythropoietin receptor and the β-common (CD131 receptor, which simultaneously activates anti-inflammatory and tissue repair pathways. Experimental data suggest that after peripheral nerve injury, the IRR is upregulated in the spinal cord and modulates the neurogenic inflammatory response. The recently introduced selective IRR agonist ARA290 is an 11-amino acid peptide initially tested in animal models of neuropathy. After sciatic nerve injury, ARA290 produced a rapid and long-term relief of mechanical and cold allodynia in normal mice, but not in animals with a β-common receptor knockout phenotype. In humans, ARA290 has been evaluated in patients with small fiber neuropathy associated with sarcoidosis or type 2 diabetes (T2D mellitus. In patients with sarcoidosis, ARA290 significantly improved neuropathic and autonomic symptoms, as well as quality of life as assessed by the small fiber neuropathy screening list questionnaire. In addition, ARA290 treatment for 28 days initiated a regrowth of small nerve fibers in the cornea, but not in the epidermis. In patients with T2D, the results were similar to those observed in patients with sarcoidosis along with an improved metabolic profile. In both populations, ARA290 lacked significant adverse effects. These experimental and clinical studies show that ARA290 effectively reprograms a proinflammatory, tissue-damaging milieu into one of healing and tissue repair. Further clinical trials with long-term treatment and follow-up are needed to assess the full potential of IRR activation by ARA290 as a disease-modifying therapy in neuropathy of various etiologies.

  18. Characterization and diagnostic evaluation of chronic polyneuropathies induced by oxaliplatin and docetaxel comparing skin biopsy to quantitative sensory testing and nerve conduction studies

    DEFF Research Database (Denmark)

    Krøigård, T; Schrøder, H D; Qvortrup, C

    2014-01-01

    was to characterize the neuropathies with regard to symptoms, neurological signs and objective evidence of damage to the structure and function of the peripheral nerves. Furthermore, the diagnostic values of skin biopsy, quantitative sensory testing (QST) and nerve conduction studies (NCS) were compared. METHODS...... biopsies from the proximal and distal parts of the leg, QST and NCS. RESULTS: Clinically only sensory functions were affected. In general, neuropathy scores were higher in the oxaliplatin-treated group. Both sensory and motor fibres were affected in the NCS, showing predominantly signs of axonal damage...... treatment is a clinically sensory, axonal neuropathy affecting only small nerve fibres in some patients. NCS are often normal, whereas QST and skin biopsy have a higher diagnostic sensitivity....

  19. Side Effects: Nerve Problems (Peripheral Neuropathy)

    Science.gov (United States)

    Nerve problems, such as peripheral neuropathy, can be caused by cancer treatment. Learn about signs and symptoms of nerve changes. Find out how to prevent or manage nerve problems during cancer treatment.

  20. Suboccipital neuropathy after bone conduction device placement.

    Science.gov (United States)

    Faber, H T; de Ru, J A

    2013-01-01

    To describe the clinical characteristics of a 70-year-old female with occipital neuropathy following bone conduction device surgery. A 65-year-old woman underwent bone conduction device placement surgery on the left temporal bone. Postoperatively she progressively developed chronic pain at the implantation site. The pain led to minimal neck movement, which resulted in complaints of the shoulder and arm on the left side. She was treated by an orthopaedic surgeon for a frozen shoulder. Pain medication and occipital nerve blocking had no sustained effect on the pain. Occipital neuropathy is a syndrome with continuous aching involving the occipital and parietal scalp caused by trauma or peripheral compression of the occipital nerves. The most common causes of occipital neuropathy are probably direct trauma to the nerve and hypertrophic fibrosis of subcutaneous tissue surrounding the nerve. Scar formation after surgery may therefore cause entrapment of the nerve. We describe a case of occipital neuropathy as a complication of BAHA surgery.

  1. Pharmacological Treatment Of Diabetic Peripheral Neuropathy

    OpenAIRE

    Cohen, Kenneth; Shinkazh, Nataliya; Frank, Jerry; Israel, Igor; Fellner, Chris

    2015-01-01

    Pain modulation is a key treatment goal for diabetic peripheral neuropathy patients. Guidelines have recommended antidepressant, anticonvulsant, analgesic, and topical medications—both approved and off-label—to reduce pain in this population.

  2. N-hexane neuropathy with vertigo and cold allodynia in a silk screen printer: A case study.

    Science.gov (United States)

    Pradhan, Sunil; Tandon, Ruchika

    2015-01-01

    N-hexane neuropathy is an occupational disease caused by exposure to n-hexane, which is used as a solvent in silk screen printing. Here, we describe a 35-year-old man, a silk screen printer by profession, who presented with dizziness, distal swelling of both lower limbs for 10 months and tingling and burning sensation in both feet for 9.5 months along with cold allodynia. The patient had normal results of a motor and sensory system examination, apart from an impaired temperature sense. Nerve conduction tests showed a conduction block in bilateral common peroneal nerves and absence of conduction in bilateral sural nerves. These symptoms resolved when further exposure to n-hexane was ceased but cold allodynia remained. Thus, cold allodynia and impaired temperature sense can be a manifestation of n-hexane neuropathy. Hence, abnormalities on nerve conduction studies can be detected in n-hexane neuropathy patients, even before clinical examination detects any such abnormalities. In the case of the patients presenting with sensory motor neuropathy, history of occupational exposure to n-hexane becomes important, as the sooner the disease is detected, the better the chances of recovery. This work is available in Open Access model and licensed under a CC BY-NC 3.0 PL license.

  3. N-hexane neuropathy with vertigo and cold allodynia in a silk screen printer: A case study

    Directory of Open Access Journals (Sweden)

    Sunil Pradhan

    2015-10-01

    Full Text Available N-hexane neuropathy is an occupational disease caused by exposure to n-hexane, which is used as a solvent in silk screen printing. Here, we describe a 35-year-old man, a silk screen printer by profession, who presented with dizziness, distal swelling of both lower limbs for 10 months and tingling and burning sensation in both feet for 9.5 months along with cold allodynia. The patient had normal results of a motor and sensory system examination, apart from an impaired temperature sense. Nerve conduction tests showed a conduction block in bilateral common peroneal nerves and absence of conduction in bilateral sural nerves. These symptoms resolved when further exposure to n-hexane was ceased but cold allodynia remained. Thus, cold allodynia and impaired temperature sense can be a manifestation of n-hexane neuropathy. Hence, abnormalities on nerve conduction studies can be detected in n-hexane neuropathy patients, even before clinical examination detects any such abnormalities. In the case of the patients presenting with sensory motor neuropathy, history of occupational exposure to n-hexane becomes important, as the sooner the disease is detected, the better the chances of recovery.

  4. Profil electroneuromyographique des neuropathies dans une ...

    African Journals Online (AJOL)

    différentes neuropathies dans une population de diabétiques. Nous avons réalisé une étude descriptive portant sur 110 patients diabétiques admis dans le laboratoire de Neurophysiologie du CHU de Limoges de janvier 2004 à juin 2006. Le diagnostic EMG des neuropathies démyélinisantes était basé sur les critères de ...

  5. Diabetic neuropathy: structural analysis of nerve hydration by Magnetic Resonance Spectroscopy

    International Nuclear Information System (INIS)

    Griffey, R.H.; Eaton, P.; Sibbitt, R.R.; Sibbitt, W.L. Jr.; Bicknell, J.M.

    1988-01-01

    The water content of the sural nerve of diabetic patients was quantitatively defined by magnetic resonance proton imaging as a putative reflection of activity of the aldose-reductase pathway. Thirty-nine patients were evaluated, comparing group A, symptomatic diabetic men with sensory neuropathy; group B, similarly symptomatic diabetic men treated aldose-reductase inhibition; group C, neurologically asymptomatic diabetic men; and group D, control nondiabetic men. Marked increase in hydration of the sural nerve was seen in more than half of the symptomatic diabetic patients. Two of 11 neurologically asymptomatic diabetics had increased nerve hydration, suggesting a presymptomatic alteration of the nerve. Symptomatic diabetics treated with aldose-reductase inhibitors had normal nerve water levels. Increased level of peripheral nerve water represents a new finding in diabetes mellitus. It seems to be related to aldose-reductase activity, involved in the development of neuropathy, and similar to events that occur in other target tissue in human diabetes

  6. Macrostructural brain changes in patients with longstanding type 1 diabetes mellitus - a cortical thickness analysis study

    DEFF Research Database (Denmark)

    Frøkjær, J B; Brock, C; Søfteland, E

    2013-01-01

    peripheral neuropathy (P=0.02).Patients with longstanding type 1 diabetes showed cortical thinning involving sensory related areas, even though no overall macrostructural brain alterations were detected. This could possibly have underlying functional significance since cortical thinning was associated......Longstanding diabetes mellitus (DM) is associated with the risk of complications affecting the central nervous system. The aims were to study brain volume and cortical thickness in regional brain areas in DM patients and to correlate the findings with relevant clinical data.15 patients.......03) and superior parietal gyrus (P=0.008) in patients. The cortical thickness of these regions was not associated with diabetes duration, age at diabetes onset or to HbA1c (all P>0.08). Patients with peripheral neuropathy showed reduced right postcentral gyrus cortical thickness compared to patients without...

  7. Cutaneous nociceptors lack sensitisation, but reveal μ-opioid receptor-mediated reduction in excitability to mechanical stimulation in neuropathy

    Directory of Open Access Journals (Sweden)

    Schmidt Yvonne

    2012-11-01

    Full Text Available Abstract Background Peripheral nerve injuries often trigger a hypersensitivity to tactile stimulation. Behavioural studies demonstrated efficient and side effect-free analgesia mediated by opioid receptors on peripheral sensory neurons. However, mechanistic approaches addressing such opioid properties in painful neuropathies are lacking. Here we investigated whether opioids can directly inhibit primary afferent neuron transmission of mechanical stimuli in neuropathy. We analysed the mechanical thresholds, the firing rates and response latencies of sensory fibres to mechanical stimulation of their cutaneous receptive fields. Results Two weeks following a chronic constriction injury of the saphenous nerve, mice developed a profound mechanical hypersensitivity in the paw innervated by the damaged nerve. Using an in vitro skin-nerve preparation we found no changes in the mechanical thresholds and latencies of sensory fibres from injured nerves. The firing rates to mechanical stimulation were unchanged or reduced following injury. Importantly, μ-opioid receptor agonist [D-Ala2,N-Me-Phe4,Gly5]-ol-enkephalin (DAMGO significantly elevated the mechanical thresholds of nociceptive Aδ and C fibres. Furthermore, DAMGO substantially diminished the mechanically evoked discharges of C nociceptors in injured nerves. These effects were blocked by DAMGO washout and pre-treatment with the selective μ-opioid receptor antagonist Cys2-Tyr3-Orn5-Pen7-amide. DAMGO did not alter the responses of sensory fibres in uninjured nerves. Conclusions Our findings suggest that behaviourally manifested neuropathy-induced mechanosensitivity does not require a sensitised state of cutaneous nociceptors in damaged nerves. Yet, nerve injury renders nociceptors sensitive to opioids. Prevention of action potential generation or propagation in nociceptors might represent a cellular mechanism underlying peripheral opioid-mediated alleviation of mechanical hypersensitivity in neuropathy.

  8. Effects of Semelil (ANGIPARSTM on diabetic peripheral neuropathy: A randomized, double-blind Placebo-controlled clinical trial

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    S Bakhshayeshi

    2011-03-01

    Full Text Available "n Background and the purpose of the study: Diabetic neuropathy is the most common diabetic complication that often is accompanied by significant morbidity, mortality and economic burden. The purpose of this study was evaluation of effect of Semelil (ANGIPARSTM, a new herbal drug for treatment of diabetic foot ulcers or diabetic peripheral neuropathy. "nMethods: In this double blind clinical trial, 49 type 2 diabetes patients with different degrees of neuropathy were evaluated in two groups (ANGIPARSTM and placebo groups. All patients were assessed at the start and 12 weeks after treatment, with laboratory tests, United Kingdom screening test, Michigan neuropathy screening score, Michigan diabetic neuropathy score, vibration perception thresholds, nerve conduction study, monofilament test and visual analog scale. "nResults: Michigan diabetic neuropathy score was decreased notably in ANGIPARSTM group. In the nerve conduction study, appropriate meaningful changes were observed in the distal latency and amplitude in the motor Ulnar nerve in ANGIPARSTM group. Conclusion: The results showed limited evidence of efficacy of ANGIPARSTM in diabetic neuropathy treatment and more studies with a larger sample size and longer duration are required.

  9. Evaluation of Effect of Nishamalaki on STZ and HFHF Diet Induced Diabetic Neuropathy in Wistar Rats.

    Science.gov (United States)

    Dawane, Jayshree Shriram; Pandit, Vijaya Anil; Bhosale, Madhura Shirish Kumar; Khatavkar, Pallawi Shashank

    2016-10-01

    Diabetic neuropathy is one of the most common complications affecting 50% of diabetic patients. Neuropathic pain is the most difficult types of pain to treat. There is no specific treatment for neuropathy. Nishamalaki (NA), combination of Curcuma longa and Emblica officinalis used to treat Diabetes Mellitus (DM). So, efforts were made to test whether NA is useful in prevention of diabetic neuropathy. To evaluate the effect of NA on diabetic neuropathy in type 2 diabetic wistar rats. Group I (Control) vehicle treated consists of 6 rats. Diabetes induced in 36 wistar rats with Streptozotocin (STZ) (35mg/kg) intra-peritoneally followed by High Fat High Fructose diet. After confirmation of development of diabetes; rats divided into six groups (n=6). Group II - VII Diabetic Control, NA low dose, NA High dose, Glibenclamide, Pioglitazone and Epalrestat. Animals received drug treatment for next 12 weeks. Monitoring of Blood Sugar Level (BSL) done every 15 days and lipid profile at the end. Eddy's hot plate and tail immersion test performed to assess thermal hyperalgesia and cold allodynia. Walking function test performed to assess motor function. Diabetic rats exhibited significant (pdiabetic neuropathy.

  10. Clinical diagnosis of diabetic polyneuropathy with the diabetic neuropathy symptom and diabetic neuropathy examination scores

    NARCIS (Netherlands)

    Meijer, J.W.; Lefrandt, J.D.; Links, T.P.; Smit, J.A.; Stewart, R.E.; van der Hoeven, J.H.; Hoogenberg, K.

    OBJECTIVE - To evaluate the discriminative power of the Diabetic Neuropathy Symptom (DNS) and Diabetic Neuropathy Examination (DNE) scores for diagnosing diabetic polyneuropathy (PNP), as well as their relation with cardiovascular autonomic function testing (cAFT) and electro-diagnostic studies

  11. Sensory activity and food intake : a study of input-output relationships in two phytophagous insects

    NARCIS (Netherlands)

    Blom, F.

    1978-01-01

    The relationships were studied between sensory responses and behavioural responses to the same stimulus. Sensory and behavioural reactions were both quantified according to stimulus type and concentration. Correlations between relative sensory responses and relative behavioural responses

  12. Diabetic cardiovascular autonomic neuropathy: clinical implications.

    Science.gov (United States)

    Karayannis, Georgios; Giamouzis, Gregory; Cokkinos, Dennis V; Skoularigis, John; Triposkiadis, Filippos

    2012-06-01

    Diabetic cardiovascular autonomic neuropathy (DCAN), the impairment of the autonomic balance of the cardiovascular system in the setting of diabetes mellitus (DM), is frequently observed in both Type 1 and 2 DM, has detrimental effects on the quality of life and portends increased mortality. Clinical manifestations include: resting heart rate disorders, exercise intolerance, intraoperative cardiovascular lability, orthostatic alterations in heart rate and blood pressure, QT-interval prolongation, abnormal diurnal and nocturnal blood pressure variation, silent myocardial ischemia and diabetic cardiomyopathy. Clinical tests for autonomic nervous system evaluation, heart rate variability analysis, autonomic innervation imaging techniques, microneurography and baroreflex analysis are the main diagnostic tools for DCAN detection. Aldose reductase inhibitors and antioxidants may be helpful in DCAN therapy, but a regular, more generalized and multifactorial approach should be adopted with inclusion of lifestyle modifications, strict glycemic control and treatment of concomitant traditional cardiovascular risk factors, in order to achieve the best therapeutic results. In the present review, the authors provide aspects of DCAN pathophysiology, clinical presentation, diagnosis and an algorithm regarding the evaluation and management of DCAN in DM patients.

  13. The role of autonomic cardiovascular neuropathy in pathogenesis of ischemic heart disease in patients with diabetes mellitus

    OpenAIRE

    Popović-Pejičić Snježana; Todorović-Đilas Ljiljana; Pantelinac Pavle

    2006-01-01

    Introduction. Diabetes is strongly associated with macrovascular complications, among which ischemic heart disease is the major cause of mortality. Autonomic neuropathy increases the risk of complications, which calls for an early diagnosis. The aim of this study was to determine both presence and extent of cardiac autonomic neuropathy, in regard to the type of diabetes mellitus, as well as its correlation with coronary disease and major cardiovascular risk factors. Material and methods. We h...

  14. Muscle spindle alterations precede onset of sensorimotor deficits in Charcot-Marie-Tooth type 2E.

    Science.gov (United States)

    Villalón, E; Jones, M R; Sibigtroth, C; Zino, S J; Dale, J M; Landayan, D S; Shen, H; Cornelison, D D W; Garcia, M L

    2017-02-01

    Charcot-Marie-Tooth (CMT) is the most common inherited peripheral neuropathy, affecting approximately 2.8 million people. The CMT leads to distal neuropathy that is characterized by reduced motor nerve conduction velocity, ataxia, muscle atrophy and sensory loss. We generated a mouse model of CMT type 2E (CMT2E) expressing human neurofilament light E396K (hNF-L E396K ), which develops decreased motor nerve conduction velocity, ataxia and muscle atrophy by 4 months of age. Symptomatic hNF-L E396K mice developed phenotypes that were consistent with proprioceptive sensory defects as well as reduced sensitivity to mechanical stimulation, while thermal sensitivity and auditory brainstem responses were unaltered. Progression from presymptomatic to symptomatic included a 50% loss of large diameter sensory axons within the fifth lumbar dorsal root of hNF-L E396K mice. Owing to proprioceptive deficits and loss of large diameter sensory axons, we analyzed muscle spindle morphology in presymptomatic and symptomatic hNF-L E396K and hNF-L control mice. Muscle spindle cross-sectional area and volume were reduced in all hNF-L E396K mice analyzed, suggesting that alterations in muscle spindle morphology occurred prior to the onset of typical CMT pathology. These data suggested that CMT2E pathology initiated in the muscle spindles altering the proprioceptive sensory system. Early sensory pathology in CMT2E could provide a unifying hypothesis for the convergence of pathology observed in CMT. © 2016 John Wiley & Sons Ltd and International Behavioural and Neural Genetics Society.

  15. Role of sigma 1 receptor in high fat diet-induced peripheral neuropathy.

    Science.gov (United States)

    Song, Tieying; Zhao, Jianhui; Ma, Xiaojing; Zhang, Zaiwang; Jiang, Bo; Yang, Yunliang

    2017-09-26

    The neurobiological mechanisms of obesity-induced peripheral neuropathy are poorly understood. We evaluated the role of Sigma-1 receptor (Sig-1R) and NMDA receptor (NMDARs) in the spinal cord in peripheral neuropathy using an animal model of high fat diet-induced diabetes. We examined the expression of Sig-1R and NMDAR subunits GluN2A and GluN2B along with postsynaptic density protein 95 (PSD-95) in the spinal cord after 24-week HFD treatment in both wild-type and Sig-1R-/- mice. Finally, we examined the effects of repeated intrathecal administrations of selective Sig-1R antagonists BD1047 in HFD-fed wild-type mice on peripheral neuropathy. Wild-type mice developed tactile allodynia and thermal hypoalgesia after 24-week HFD treatment. HFD-induced peripheral neuropathy correlated with increased expression of GluN2A and GluN2B subunits of NMDARs, PDS-95, and Sig-1R, as well as increased Sig-1R-NMDAR interaction in the spinal cord. In contrast, Sig-1R-/- mice did not develop thermal hypoalgesia or tactile allodynia after 24-week HFD treatment, and the levels of GluN2A, GluN2B, and PSD-95 were not altered in the spinal cord of HFD-fed Sig-1R-/- mice. Finally, repeated intrathecal administrations of selective Sig-1R antagonists BD1047 in HFD-fed wild-type mice attenuated peripheral neuropathy. Our results suggest that obesity-associated peripheral neuropathy may involve Sig-1R-mediated enhancement of NMDAR expression in the spinal cord.

  16. MR neurography in ulnar neuropathy as surrogate parameter for the presence of disseminated neuropathy.

    Directory of Open Access Journals (Sweden)

    Philipp Bäumer

    Full Text Available PURPOSE: Patients with ulnar neuropathy of unclear etiology occasionally present with lesion extension from elbow to upper arm level on MRI. This study investigated whether MRI thereby distinguishes multifocal neuropathy from focal-compressive neuropathy at the elbow. METHODS: This prospective study was approved by the institutional ethics committee and written informed consent was obtained from all participants. 122 patients with ulnar mononeuropathy of undetermined localization and etiology by clinical and electrophysiological examination were assessed by MRI at upper arm and elbow level using T2-weighted fat-saturated sequences at 3T. Twenty-one patients were identified with proximal ulnar nerve lesions and evaluated for findings suggestive of disseminated neuropathy (i subclinical lesions in other nerves, (ii unfavorable outcome after previous decompressive elbow surgery, and (iii subsequent diagnosis of inflammatory or other disseminated neuropathy. Two groups served as controls for quantitative analysis of nerve-to-muscle signal intensity ratios: 20 subjects with typical focal ulnar neuropathy at the elbow and 20 healthy subjects. RESULTS: In the group of 21 patients with proximal ulnar nerve lesion extension, T2-w ulnar nerve signal was significantly (p<0.001 higher at upper arm level than in both control groups. A cut-off value of 1.92 for maximum nerve-to-muscle signal intensity ratio was found to be sensitive (86% and specific (100% to discriminate this group. Ten patients (48% exhibited additional T2-w lesions in the median and/or radial nerve. Another ten (48% had previously undergone elbow surgery without satisfying outcome. Clinical follow-up was available in 15 (71% and revealed definitive diagnoses of multifocal neuropathy of various etiologies in four patients. In another eight, diagnoses could not yet be considered definitive but were consistent with multifocal neuropathy. CONCLUSION: Proximal ulnar nerve T2 lesions at upper

  17. Endoneurial pressure in hexachlorophene neuropathy.

    Science.gov (United States)

    Powell, H C; Myers, R R; Zweifach, B W; Lampert, P W

    1978-02-20

    Increased endoneurial pressure of up to 17.0 cm H2O was recorded in the peripheral nerves of rats fed hexachlorophene in their laboratory diet. The pressure was measured using a micropressure transducer developed for recording pressure in the microcirculation. The results were correlated with morphologic findings. Teased nerve fibers and araldite-embedded specimens of hexachlorophene damaged sciatic nerve revealed the characteristic severe intramyelinic edema due to splits in the minor dense lines of compact myelin giving rise to wide interlamellar spaces as shown in previous studies. The endoneurial pressure of rats exposed to hexachlorophene for 11 days and subsequently fed a normal diet returned to normal (0.2-3.0 cm H2O) after 12 days, and morphologic examination showed few residual abnormalities. Prolonged exposure to hexachlorophene for up to 4 weeks caused widespread axonal degeneration in addition to intramyelinic edema. Animals treated with hexachlorophene for 21 days followed by a normal diet for 14 days showed degenerated axons, phagocytosis of myelin as well as interstitial edema and elevated endoneurial pressure. It is suggested that axonal degeneration in hexachlorophene neuropathy is caused by increased endoneurial pressure.

  18. Peroneal neuropathy after liver transplantation.

    Science.gov (United States)

    Yoon, J S; Gwak, M S; Yang, M; Kim, G S; Kwon, C H; Joh, J W; Lee, S K; Kim, S J

    2008-10-01

    The incidence of peroneal neuropathy (PN), occurring predominantly in the left leg, increases after the incorporation of intermittent pneumatic compression (IPC) devices among adult liver transplantation (OLT) recipients in our hospital. The aim of this study was to investigate the possible risk factors for PN and the reason for the left-leg predominance. We retrospectively reviewed the medical records of 501 OLT recipients. The patients were first divided into 2 groups, PN (n = 33) and non-PN (n = 468), to assess possible risk factors. The patients were then categorized into IPC (n = 262) and non-IPC (n = 239) groups according to the use of IPC devices. In a subsequent prospective study, we measured the degree and duration of the tilt of the operating table during OLT to investigate their relationship to the predominant left-leg PN. The rate of IPC device use was significantly greater among the PN than non-PN group (78.8% vs 50.4%, P table were greater and longer than the right tilt. The use of IPC devices during OLT increased the occurrence of PN and the left tilt of the operating table was strongly related to the predominant left-leg PN. Careful protection of the vulnerable point and minimization of the tilting of the operating table is advised during OLT, especially when IPC devices are used.

  19. A new paradigm of electrical stimulation to enhance sensory neural function.

    Science.gov (United States)

    Breen, Paul P; ÓLaighin, Gearóid; McIntosh, Caroline; Dinneen, Sean F; Quinlan, Leo R; Serrador, Jorge M

    2014-08-01

    The ability to improve peripheral neural transmission would have significant therapeutic potential in medicine. A technology of this kind could be used to restore and/or enhance sensory function in individuals with depressed sensory function, such as older adults or patients with peripheral neuropathies. The goal of this study was to investigate if a new paradigm of subsensory electrical noise stimulation enhances somatosensory function. Vibration (50Hz) was applied with a Neurothesiometer to the plantar aspect of the foot in the presence or absence of subsensory electrical noise (1/f type). The noise was applied at a proximal site, on a defined region of the tibial nerve path above the ankle. Vibration perception thresholds (VPT) of younger adults were measured in control and experimental conditions, in the absence or presence of noise respectively. An improvement of ∼16% in VPT was found in the presence of noise. These are the first data to demonstrate that modulation of axonal transmission with externally applied electrical noise improves perception of tactile stimuli in humans. Copyright © 2014 IPEM. All rights reserved.

  20. [Peripheral neuropathies in the State of São Paulo from 1939 to 1985].

    Science.gov (United States)

    Barreira, A A; Marques Júnior, W

    1997-03-01

    Studies on peripheral neuropathies by investigators residing in the State of São Paulo, Brazil, and published since the 1930 and 1940 decades until 1985 were revised in the present survey. Investigations in the area were greatly encouraged by the appearance of the journal Arquivos de Neuro-Psiquiatria(São Paulo). Oswaldo Freitas Julião may be considered the author who began these studies in the State and his most important contributions were related to leprosy and to Andrade disease, although he also published papers on other types of peripheral neuropathies. Horacio Martins Canelas also made a very important contribution to the study of different neuropathies, especially those due to vitamin B12 deficiency. A series of papers on neuropathies published by neurologists residing in the State is summarized. We also present a catalogue of the major university centers where groups of neurologists preferentially devote their time to the study of neuromuscular disease in São Paulo and a selected bibliography about neuropathies by investigators from this State.

  1. Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy [v2; ref status: indexed, http://f1000r.es/3am

    Directory of Open Access Journals (Sweden)

    Lori Sames

    2014-04-01

    Full Text Available Approximately 1 in 2500 Americans suffer from Charcot-Marie-Tooth (CMT disease. The underlying disease mechanisms are unique in most forms of CMT, with many point mutations on various genes causing a toxic accumulation of misfolded proteins. Symptoms of the disease often present within the first two decades of life, with CMT1A patients having reduced compound muscle and sensory action potentials, slow nerve conduction velocities, sensory loss, progressive distal weakness, foot and hand deformities, decreased reflexes, bilateral foot drop and about 5% become wheelchair bound. In contrast, the ultra-rare disease Giant Axonal Neuropathy (GAN is frequently described as a recessively inherited condition that results in progressive nerve death. GAN usually appears in early childhood and progresses slowly as neuronal injury becomes more severe and leads to death in the second or third decade. There are currently no treatments for any of the forms of CMTs or GAN. We suggest that further clinical studies should analyse electrical impedance myography as an outcome measure for CMT. Further, additional quality of life (QoL assessments for these CMTs are required, and we need to identify GAN biomarkers as well as develop new genetic testing panels for both diseases. We propose that using the Global Registry of Inherited Neuropathy (GRIN could be useful for many of these studies. Patient advocacy groups and professional organizations (such as the Hereditary Neuropathy Foundation (HNF, Hannah's Hope Fund (HHF, The Neuropathy Association (TNA and the American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM can play a central role in educating clinicians and patients. Undertaking these studies will assist in the correct diagnosis of disease recruiting patients for clinical studies, and will ultimately improve the endpoints for clinical trials. By addressing obstacles that prevent industry investment in various forms of inherited neuropathies

  2. Plasma dihydroxyphenylglycol (DHPG) as an index of diabetic autonomic neuropathy

    DEFF Research Database (Denmark)

    Christensen, N J; Dejgaard, Anders; Hilsted, J

    1988-01-01

    Forearm venous plasma noradrenalin and dihydroxyphenylglycol (DHPG) concentrations were measured in eight diabetic patients with and eight diabetic patients without neuropathy. Plasma noradrenalin was on average the same in patients with and without neuropathy and correlated to serum creatinine...

  3. Ischemic neuropathy and rhabdomyolysis as presenting symptoms of postpartum cardiomyopathy

    NARCIS (Netherlands)

    Helmich, Rick C. G.; van Laarhoven, Hanneke W. M.; Schoonderwaldt, Hennie C.; Janssen, Mirian C. H.

    2009-01-01

    Rhabdomyolysis and peripheral neuropathy are two distinct disease entities which are rarely encountered in combination. We present a woman with rhabdomyolysis and peripheral neuropathy 3 weeks postpartum. Her symptoms were caused by bilateral femoral artery thrombosis due to postpartum

  4. F wave index: A diagnostic tool for peripheral neuropathy

    Directory of Open Access Journals (Sweden)

    G R Sathya

    2017-01-01

    Interpretation & conclusions: Our results showed that F wave index in upper limb was significantly lower in patients with peripheral neuropathy than the healthy controls, and could be used for early detection of peripheral neuropathy.

  5. Failure of action potential propagation in sensory neurons: mechanisms and loss of afferent filtering in C-type units after painful nerve injury

    NARCIS (Netherlands)

    Gemes, Geza; Koopmeiners, Andrew; Rigaud, Marcel; Lirk, Philipp; Sapunar, Damir; Bangaru, Madhavi Latha; Vilceanu, Daniel; Garrison, Sheldon R.; Ljubkovic, Marko; Mueller, Samantha J.; Stucky, Cheryl L.; Hogan, Quinn H.

    2013-01-01

    The T-junction of sensory neurons in the dorsal root ganglion (DRG) is a potential impediment to action potential (AP) propagation towards the CNS. Using intracellular recordings from rat DRG neuronal somata during stimulation of the dorsal root, we determined that the maximal rate at which all of

  6. Ciliary neurotrophic factor reverses aberrant mitochondrial bioenergetics through the JAK/STAT pathway in cultured sensory neurons derived from streptozotocin-induced diabetic rodents.

    Science.gov (United States)

    Chowdhury, Subir Roy; Saleh, Ali; Akude, Eli; Smith, Darrell R; Morrow, Dwane; Tessler, Lori; Calcutt, Nigel A; Fernyhough, Paul

    2014-07-01

    Mitochondrial dysfunction occurs in sensory neurons and contributes to diabetic neuropathy. Ciliary neurotrophic factor (CNTF) stimulates axon regeneration in type 1 diabetic rodents and prevents deficits in axonal caliber, nerve conduction, and thermal sensation. We tested the hypothesis that CNTF enhances sensory neuron function in diabetes through JAK/STAT (Janus kinase/signal transducers and activators of transcription) signaling to normalize impaired mitochondrial bioenergetics. The effect of CNTF on gene expression and neurite outgrowth of cultured adult dorsal root ganglia (DRG) sensory neurons derived from control and streptozotocin (STZ)-induced diabetic rodents was quantified. Polarization status and bioenergetics profile of mitochondria from cultured sensory neurons were determined. CNTF treatment prevented reduced STAT3 phosphorylation (Tyr 705) in DRG of STZ-diabetic mice and also enhanced STAT3 phosphorylation in rat DRG cultures. CNTF normalized polarization status of the mitochondrial inner membrane and corrected the aberrant oligomycin-induced mitochondrial hyperpolarization in axons of diabetic neurons. The mitochondrial bioenergetics profile demonstrated that spare respiratory capacity and respiratory control ratio were significantly depressed in sensory neurons cultured from STZ-diabetic rats and were corrected by acute CNTF treatment. The positive effects of CNTF on neuronal mitochondrial function were significantly inhibited by the specific JAK inhibitor, AG490. Neurite outgrowth of sensory neurons from age-matched control and STZ-induced diabetic rats was elevated by CNTF and blocked by AG490. We propose that CNTF's ability to enhance axon regeneration and protect from fiber degeneration in diabetes is associated with its targeting of mitochondrial function and improvement of cellular bioenergetics, in part, through JAK/STAT signaling.

  7. Ambulatory screening of diabetic neuropathy and predictors of its severity in outpatient settings.

    Science.gov (United States)

    Qureshi, M S; Iqbal, M; Zahoor, S; Ali, J; Javed, M U

    2017-04-01

    Diabetic neuropathy is one of the most common causes of chronic neuropathic symptomatology and the most disabling and difficult-to-treat diabetic microangiopathic complication. The neuropathies associated with diabetes are typically classified into generalized, focal and multifocal varieties. There exists a scarcity of literature studying the correlation of different patient- and disease-related variables with severity of neuropathy. This study aims to delineate the prevalence of diabetic neuropathy in type 2 diabetes, describe its characteristics and find out predictors of its severity. Eight hundred consecutive diabetic patients presenting to outpatient department (OPD) of Khan Research Labs (KRL) General Hospital and Centre for Diabetes and Liver diseases, Islamabad, during March-June, 2015 were made to complete a self-administered questionnaire (Michigan Neuropathy Screening Instrument-MNSI) and underwent a thorough physical examination according to MNSI protocols. A score of >2 was considered to be diagnostic for DPN. Patient and disease variables were noted. MNSI score was used as an index of severity of diabetic peripheral neuropathy (DPN). Correlation of several patient- and disease-related variables with the severity of DPN was determined using multivariate regression. Out of a total 800 patients screened, 90 (11.25%) were found to have diabetic neuropathy. Of these 90, 45.5% were males, the median age was 54.47 ± 10.87 years and the median duration of diabetes was 11.12 ± 9.8 years. The most common symptom was found to be numbness (63.6%) followed by generalized body weakness (61.5%). The common findings on physical examination were dry skin/callus (38.7%) and deformities (14.7%). Duration of diabetes was found to be the strongest predictor for development and severity of diabetic neuropathy followed by glycemic controls (HbA1c values) and age. Duration of diabetes rather than diabetic controls predicts better the development and severity of

  8. Phenotyping animal models of diabetic neuropathy

    DEFF Research Database (Denmark)

    Biessels, G J; Bril, V; Calcutt, N A

    2014-01-01

    of statistically different values between diabetic and control animals in 2 of 3 assessments (nocifensive behavior, nerve conduction velocities, or nerve structure). The participants propose that this framework would allow different research groups to compare and share data, with an emphasis on data targeted......NIDDK, JDRF, and the Diabetic Neuropathy Study Group of EASD sponsored a meeting to explore the current status of animal models of diabetic peripheral neuropathy. The goal of the workshop was to develop a set of consensus criteria for the phenotyping of rodent models of diabetic neuropathy....... The discussion was divided into five areas: (1) status of commonly used rodent models of diabetes, (2) nerve structure, (3) electrophysiological assessments of nerve function, (4) behavioral assessments of nerve function, and (5) the role of biomarkers in disease phenotyping. Participants discussed the current...

  9. Anesthesia Management in Diabetic Cardiovascular Autonomic Neuropathy

    Directory of Open Access Journals (Sweden)

    Feride Karacaer

    2016-06-01

    Full Text Available Cardiovascular autonomic neuropathy is frequently observed in patients with diabetes mellitus and encompasses damage to the autonomic nerve fibers, resulting in abnormalities in heart rate control and vascular dynamics. There is an increased mortality and morbidity rate among these patients. A series of cardiovascular reflex tests known as Ewing's battery tests are used for diagnosis cardiac autonomic neuropathy and provide valuable information to the clinical assessment of these patients. As anesthesia has a major influence on perioperative autonomic function, the interplay between cardiovascular autonomic neuropathy and anesthesia may result in unexpected haemodynamic instability during surgery and postoperative recovery. A comprehensive preoperative assessment and perioperative cautious monitoring are necessary for successful anesthesia management. [Archives Medical Review Journal 2016; 25(2.000: 140-151

  10. Blood pressure regulation in diabetic autonomic neuropathy

    DEFF Research Database (Denmark)

    Hilsted, J

    1985-01-01

    Defective blood pressure responses to standing, exercise and epinephrine infusions have been demonstrated in diabetic patients with autonomic neuropathy. The circulatory mechanisms underlying blood pressure responses to exercise and standing up in these patients are well characterized: In both...... which may contribute to exercise hypotension in these patients. During hypoglycemia, blood pressure regulation seems intact in patients with autonomic neuropathy. This is probably due to release of substantial amounts of catecholamines during these experiments. During epinephrine infusions a substantial...... blood pressure fall ensues in patients with autonomic neuropathy, probably due to excessive muscular vasodilation. It is unresolved why blood pressure regulation is intact during hypoglycemia and severely impaired--at similar catecholamine concentrations--during epinephrine infusions....

  11. Structural and molecular alterations of primary afferent fibres in the spinal dorsal horn in vincristine-induced neuropathy in rat.

    Science.gov (United States)

    Thibault, Karine; Rivals, Isabelle; M'Dahoma, Saïd; Dubacq, Sophie; Pezet, Sophie; Calvino, Bernard

    2013-11-01

    Vincristine is one of the most common anti-cancer drug therapies administered for the treatment of many types of cancer. Its dose-limiting side effect is the emergence of peripheral neuropathy, resulting in chronic neuropathic pain in many patients. This study sought to understand the mechanisms underlying the development of neuropathic pain by vincristine-induced neurotoxicity. We focused on signs of functional changes and revealed that deep layers of the spinal cord (III-IV) experience increased neuronal activity both in the absence of peripheral stimulation and, as a result of tactile mechanical stimulations. These laminae and superficial laminae I-II were also subject to structural changes as evidenced by an increase in immunoreactivity of Piccolo, a marker of active presynaptic elements. Further investigations performed, using DNA microarray technology, describe a large number of genes differentially expressed in dorsal root ganglions and in the spinal dorsal horn after vincristine treatment. Our study describes an important list of genes differentially regulated by vincristine treatment that will be useful for future studies and brings forward evidence for molecular and anatomical modifications of large diameter sensory neurons terminating in deep dorsal horn laminae, which could participate in the development of tactile allodynia.

  12. Neuropathies optiques héréditaires

    DEFF Research Database (Denmark)

    Milea, D; Verny, C

    2012-01-01

    Hereditary optic neuropathies are a group of heterogeneous conditions affecting both optic nerves, with an autosomal dominant, autosomal recessive, X-related or mitochondrial transmission. The two most common non-syndromic hereditary optic neuropathies (Leber's hereditary optic neuropathy and aut...

  13. Initial sensorimotor and delayed autonomic neuropathy in acute thallium poisoning.

    Science.gov (United States)

    Nordentoft, T; Andersen, E B; Mogensen, P H

    1998-06-01

    In a 27-year old male with acute thallium poisoning, signs of initially severe sensorimotor neuropathy with complete remission after two weeks were demonstrated. Signs of cardiovascular autonomic neuropathy were initially absent, but developed after a latency period of one week with marked improvement after seven months. Delayed autonomic neuropathy may be caused by a late affection of small unmyelinated autonomic nerve fibers.

  14. Sensory analysis in grapes benitaka

    International Nuclear Information System (INIS)

    Santillo, Amanda G.; Rodrigues, Flavio T.; Arthur, Paula B.; Villavicencio, Ana Lucia C.H.

    2011-01-01

    Abstract Sensory analysis is considered one of the main techniques when you want to know the organoleptic qualities of foods. Marketing strategies, showing that some foods produced organically is more nutritious, flavorful than conventional ones are affecting some consumers. The advantages of using radiation in sensory analysis are not the formation of waste, the less nutritional loss and little change in taste of food. The possibility that the fruit is harvested at more advanced maturity, when all characteristics of flavor and external appearance are fully developed is another advantage. The possibility of fruits being packed irradiated prevents contamination after processing. This type of study, ionizing radiation associated with sensory evaluation scarce, making it necessary for future discoveries. The objective this paper was to evaluate the quality of grapes Benitaka after the irradiation process with doses 0,5; 1; 1,5 e 2 kGy. (author)

  15. Sensory analysis in grapes benitaka

    Energy Technology Data Exchange (ETDEWEB)

    Santillo, Amanda G.; Rodrigues, Flavio T.; Arthur, Paula B.; Villavicencio, Ana Lucia C.H. [Instituto de Pesquisas Energeticas e Nucleares (IPEN/CNEN-SP), Sao Paulo, SP (Brazil)

    2011-07-01

    Abstract Sensory analysis is considered one of the main techniques when you want to know the organoleptic qualities of foods. Marketing strategies, showing that some foods produced organically is more nutritious, flavorful than conventional ones are affecting some consumers. The advantages of using radiation in sensory analysis are not the formation of waste, the less nutritional loss and little change in taste of food. The possibility that the fruit is harvested at more advanced maturity, when all characteristics of flavor and external appearance are fully developed is another advantage. The possibility of fruits being packed irradiated prevents contamination after processing. This type of study, ionizing radiation associated with sensory evaluation scarce, making it necessary for future discoveries. The objective this paper was to evaluate the quality of grapes Benitaka after the irradiation process with doses 0,5; 1; 1,5 e 2 kGy. (author)

  16. Emerging Mitochondrial Therapeutic Targets in Optic Neuropathies.

    Science.gov (United States)

    Lopez Sanchez, M I G; Crowston, J G; Mackey, D A; Trounce, I A

    2016-09-01

    Optic neuropathies are an important cause of blindness worldwide. The study of the most common inherited mitochondrial optic neuropathies, Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA) has highlighted a fundamental role for mitochondrial function in the survival of the affected neuron-the retinal ganglion cell. A picture is now emerging that links mitochondrial dysfunction to optic nerve disease and other neurodegenerative processes. Insights gained from the peculiar susceptibility of retinal ganglion cells to mitochondrial dysfunction are likely to inform therapeutic development for glaucoma and other common neurodegenerative diseases of aging. Despite it being a fast-evolving field of research, a lack of access to human ocular tissues and limited animal models of mitochondrial disease have prevented direct retinal ganglion cell experimentation and delayed the development of efficient therapeutic strategies to prevent vision loss. Currently, there are no approved treatments for mitochondrial disease, including optic neuropathies caused by primary or secondary mitochondrial dysfunction. Recent advances in eye research have provided important insights into the molecular mechanisms that mediate pathogenesis, and new therapeutic strategies including gene correction approaches are currently being investigated. Here, we review the general principles of mitochondrial biology relevant to retinal ganglion cell function and provide an overview of the major optic neuropathies with mitochondrial involvement, LHON and ADOA, whilst highlighting the emerging link between mitochondrial dysfunction and glaucoma. The pharmacological strategies currently being trialed to improve mitochondrial dysfunction in these optic neuropathies are discussed in addition to emerging therapeutic approaches to preserve retinal ganglion cell function. Copyright © 2016 Elsevier Inc. All rights reserved.

  17. Spinal cord stimulation in patients with painful diabetic neuropathy: A multicentre randomized clinical trial

    NARCIS (Netherlands)

    de Vos, Cecilia Cecilia Clementine; Meier, Kaare; Brocades Zaalberg, Paul; Nijhuis, Harold J.A.; Duyvendak, Wim; Vesper, Jan; Enggaard, Thomas P.; Lenders, Mathieu W.P.M.

    2014-01-01

    Painful diabetic neuropathy (PDN) is a peripheral neuropathic pain condition that is often difficult to relieve. Spinal cord stimulation (SCS) is a proven effective therapy for various types of mixed neuropathic conditions, yet effectiveness of SCS treatment for PDN is not well established. To our

  18. The frequency and pattern of cardiac autonomic neuropathy(CAN) in ...

    African Journals Online (AJOL)

    The frequency and pattern of cardiac autonomic neuropathy(CAN) in Type 2 DM patients in a diabetic clinic in Enugu South-east Nigeria. ... was determined using a battery of 5 non-invasive tests which include; Heart rate response (HRR) to Valsalva manoeuvre, HRR to deep breathing, HRR to standing, Resting heart rate, ...

  19. Immediate and delayed cochlear neuropathy after noise exposure in pubescent mice.

    Directory of Open Access Journals (Sweden)

    Jane Bjerg Jensen

    Full Text Available Moderate acoustic overexposure in adult rodents is known to cause acute loss of synapses on sensory inner hair cells (IHCs and delayed degeneration of the auditory nerve, despite the completely reversible temporary threshold shift (TTS and morphologically intact hair cells. Our objective was to determine whether a cochlear synaptopathy followed by neuropathy occurs after noise exposure in pubescence, and to define neuropathic versus non-neuropathic noise levels for pubescent mice. While exposing 6 week old CBA/CaJ mice to 8-16 kHz bandpass noise for 2 hrs, we defined 97 dB sound pressure level (SPL as the threshold for this particular type of neuropathic exposure associated with TTS, and 94 dB SPL as the highest non-neuropathic noise level associated with TTS. Exposure to 100 dB SPL caused permanent threshold shift although exposure of 16 week old mice to the same noise is reported to cause only TTS. Amplitude of wave I of the auditory brainstem response, which reflects the summed activity of the cochlear nerve, was complemented by synaptic ribbon counts in IHCs using confocal microscopy, and by stereological counts of peripheral axons and cell bodies of the cochlear nerve from 24 hours to 16 months post exposure. Mice exposed to neuropathic noise demonstrated immediate cochlear synaptopathy by 24 hours post exposure, and delayed neurodegeneration characterized by axonal retraction at 8 months, and spiral ganglion cell loss at 8-16 months post exposure. Although the damage was initially limited to the cochlear base, it progressed to also involve the cochlear apex by 8 months post exposure. Our data demonstrate a fine line between neuropathic and non-neuropathic noise levels associated with TTS in the pubescent cochlea.

  20. Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.

    Science.gov (United States)

    Manole, Andreea; Jaunmuktane, Zane; Hargreaves, Iain; Ludtmann, Marthe H R; Salpietro, Vincenzo; Bello, Oscar D; Pope, Simon; Pandraud, Amelie; Horga, Alejandro; Scalco, Renata S; Li, Abi; Ashokkumar, Balasubramaniem; Lourenço, Charles M; Heales, Simon; Horvath, Rita; Chinnery, Patrick F; Toro, Camilo; Singleton, Andrew B; Jacques, Thomas S; Abramov, Andrey Y; Muntoni, Francesco; Hanna, Michael G; Reilly, Mary M; Revesz, Tamas; Kullmann, Dimitri M; Jepson, James E C; Houlden, Henry

    2017-11-01

    Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading to ventilator-dependence. Loss-of-function mutations in two riboflavin transporter genes, SLC52A2 and SLC52A3, have recently been linked to Brown-Vialetto-Van Laere syndrome. However, the genetic frequency, neuropathology and downstream consequences of riboflavin transporter mutations are unclear. By screening a large cohort of 132 patients with early-onset severe sensory, motor and cranial nerve neuropathy we confirmed the strong genetic link between riboflavin transporter mutations and Brown-Vialetto-Van Laere syndrome, identifying 22 pathogenic mutations in SLC52A2 and SLC52A3, 14 of which were novel. Brain and spinal cord neuropathological examination of two cases with SLC52A3 mutations showed classical symmetrical brainstem lesions resembling pathology seen in mitochondrial disease, including severe neuronal loss in the lower cranial nerve nuclei, anterior horns and corresponding nerves, atrophy of the spinothalamic and spinocerebellar tracts and posterior column-medial lemniscus pathways. Mitochondrial dysfunction has previously been implicated in an array of neurodegenerative disorders. Since riboflavin metabolites are critical components of the mitochondrial electron transport chain, we hypothesized that reduced riboflavin transport would result in impaired mitochondrial activity, and confirmed this using in vitro and in vivo models. Electron transport chain complex I and complex II activity were decreased in SLC52A2 patient fibroblasts, while global knockdown of the single Drosophila melanogaster riboflavin transporter homologue revealed reduced levels of riboflavin, downstream metabolites, and electron transport chain complex I activity. This in turn led to abnormal mitochondrial membrane potential, respiratory chain activity and morphology. Riboflavin transporter knockdown in

  1. The use of antioxidant agents for chemotherapy-induced peripheral neuropathy treatment in animal models.

    Science.gov (United States)

    Carvalho, Larissa F; Silva, Ana Maria F; Carvalho, Adriana A

    2017-10-01

    Antineoplastic drugs such as cisplatin, oxaliplatin, paclitaxel and vincristin are widely used in the treatment of several solid and blood tumours. However, the severity of peripheral neuropathy caused by these agents can affect the patient's quality of life. The major symptoms of chemotherapy-induced peripheral neuropathy (CIPN) involve: sensory loss, paresthesia, dysesthaesia, numbness, tingling, temperature sensitivity, allodynia and hyperalgesia, in a "stocking and glove" distribution. Why many different chemotherapeutic agents result in similar neuropathy profiles is unclear. Many drug classes such as antidepressants, anticonvulsants, antispastic agents and others have been used in clinical practice, but there is no scientific evidence to prove their effectiveness. But drugs as the antioxidant have shown a protective effect against free radical damage. In order to find out a successful treatment for CIPN, animal studies (ie pharmacological and mechanical tests and histopathological immunohistochemical analyses) have been developed to try to determinate the action of the antioxidant agents. This review provides an overview of the major antioxidant agents recently investigated to treat CIPN and the animal models used for this purpose. © 2017 John Wiley & Sons Australia, Ltd.

  2. Magnetic resonance neurography in the management of peripheral trigeminal neuropathy: experience in a tertiary care centre

    Energy Technology Data Exchange (ETDEWEB)

    Cox, Brian; Chhabra, Avneesh [UT Southwestern Medical Center, Department of Radiology, Dallas, TX (United States); Zuniga, John R. [UT Southwestern Medical Center, Department of Oral and Maxillofacial Surgery, Surgery, Neurology and Neurotherapeutics, Dallas, TX (United States); Panchal, Neeraj [University of Pennsylvania, Department of Oral Maxillofacial Surgery, Philadelphia, PA (United States); Cheng, Jonathan [UT Southwestern Medical Center, Department of Plastic Surgery, Dallas, TX (United States)

    2016-10-15

    This tertiary care experience examines the utility of magnetic resonance neurography (MRN) in the management of peripheral trigeminal neuropathies. Seventeen patients with clinically suspected peripheral trigeminal neuropathies (inferior alveolar nerve and lingual nerve) were imaged uniformly with 1.5-T examinations. MRN results were correlated with clinical and surgical findings in operated patients and the impact on clinical management was assessed. Clinical findings included pain (14/17), sensory changes (15/17), motor changes (2/17) and palpable masses (3/17). Inciting events included prior dental surgery (12/17), trauma (1/17) and idiopathic incidents (4/17). Non-affected side nerves and trigeminal nerves in the intracranial and skull base course were normal in all cases. Final diagnoses on affected sides were nerve inflammation (4/17), neuroma in continuity (2/17), LN transection (1/17), scar entrapment (3/17), infectious granuloma (1/17), low-grade injuries (3/17) and no abnormality (3/17). Associated submandibular gland and sublingual gland oedema-like changes were seen in 3/17 cases because of parasympathetic effects. Moderate-to-excellent MRN-surgical correlation was seen in operated (8/17) patients, and neuroma and nerve transection were prospectively identified in all cases. MRN is useful for the diagnostic work-up of suspected peripheral trigeminal neuropathy patients with significant impact on clinical management and moderate-to-excellent correlation with intra-operative findings. (orig.)

  3. A Rare Case of Painful Trigeminal Neuropathy Secondary to Lateral Medullary Infarct: Neuroimaging and Electrophysiological Studies.

    Science.gov (United States)

    Huang, Ching-Tang; Lo, Chung-Ping; Chen, Ying-Chu; Tu, Min-Chien

    2015-06-01

    To report a rare case of painful trigeminal neuropathy after lateral medullary infarct and probe its underlying pathogenesis on the basis of neuroimaging and electrophysiological study. A 45-year-old man presented acute onset of unsteady gait followed by paroxysmal and electric shock-like headache in the distribution of ophthalmic branch of left trigeminal nerve in 2 days. Neurological examinations showed hypoesthesia in the distribution of mandibular branch of left trigeminal nerve and left appendicular ataxia. Muscle powers and deep tendon reflexes were normal. Brain magnetic resonance imaging revealed infarct within the left cerebellum and middle portion of dorsolateral medulla. Vascular compression at the root entry zone of trigeminal nerve was excluded. Painful trigeminal neuropathy secondary to lateral medullary infarct was diagnosed. Ancillary blink reflex study 3 days after the stroke event showed abnormal late responses (R2), either ipsilateral or contralateral, after stimulation of left supraorbital nerve, suggesting left medullary lesion. Followup study 3 weeks later demonstrated normalization in absolute latencies of bilateral late responses, in line with remission of pain paroxysms on low-dose gabapentin treatment. Painful trigeminal neuropathy attributed to lateral medullary infarct is a unique disease entity. Ophthalmic branch involvement, coexisting sensory deficits, absence of triggers, and rapid evolvement and remission are its characteristics. Our neuroimaging study delineated ischemic stroke pathology within descending tract and spinal nucleus of trigeminal nerve. Serial electrophysiological studies provide evidences supporting ephaptic transmission as the main pathogenesis concordant with dynamics of neuropathic pain and therapeutic implications.

  4. Epilepsy and the Sensory Systems

    OpenAIRE

    Wolf, Peter

    2016-01-01

    The relations of epilepsy and the sensory systems are bidirectional. Epilepsy may act on sensory systems by producing sensory seizure symptoms, by altering sensory performance, and by epilepsy treatment causing sensory side effects. Sensory system activity may have an important role in both generation and inhibition of seizures.

  5. Neuropathy: mobility and quality of life

    NARCIS (Netherlands)

    van Schie, Carine H. M.

    2008-01-01

    In summary, diabetes is increasingly becoming a disease of elderly people. Some of the under-appreciated complications such as impaired physical functioning, increased risk for falls and fractures need to be more addressed in the future. When evaluating a patient with peripheral neuropathy, it is

  6. Diabetic cachectic neuropathy: An uncommon neurological ...

    African Journals Online (AJOL)

    Diabetic patients can be affected by a wide variety of neurological complications which may involve the peripheral or autonomic nervous system, or both. These complications significantly impair the quality of life of patients, with impact on morbidity and mortality outcomes. Diabetic cachectic neuropathy, also called diabetic ...

  7. Habitual Physical Activity, Peripheral Neuropathy, Foot Deformities ...

    African Journals Online (AJOL)

    Results: Habitual physical activity index (3.2 ± 0.83) was highest in work-related activities; 69 (26.1 %) patients presented with peripheral neuropathy and 52 (19. 7%) had the lowest limb function. Pes planus was the most prevalent foot deformity (20.1%). Significant differences existed in physical activity indices across ...

  8. Suboccipital neuropathy after bone conduction device placement

    NARCIS (Netherlands)

    Faber, H.T.; Ru, J.A. de

    2013-01-01

    OBJECTIVE: To describe the clinical characteristics of a 70-year-old female with occipital neuropathy following bone conduction device surgery. DESCRIPTION: A 65-year-old woman underwent bone conduction device placement surgery on the left temporal bone. Postoperatively she progressively developed

  9. Amitriptyline and sertraline in diabetic neuropathy

    African Journals Online (AJOL)

    Erah

    2008-06-01

    Jun 1, 2008 ... Jawaid et al. Amitriptyline and sertraline in diabetic neuropathy. Int J Health Res, June 2008; 1(2):. 71. Reprinted from. International Journal of. Health Research. Peer-reviewed Online Journal http://www.ijhr.org. PORACOM. Academic Publishers ...

  10. Idiopathic trigeminal neuropathy in a poodle

    Directory of Open Access Journals (Sweden)

    Carlos Eduardo Aparicio

    2010-12-01

    Full Text Available A seven years old, male poodle is examined presenting acute mandible paralysis (dropped jaw, drooling and difficulty for the apprehension and chewing; not evidence of an other alteration of cranial nerves. The muscular biopsy rules out a myositisof masticatory muscles. The disorder is resolved completely in 3 weeks confirming diagnosis of idiopathic trigeminal neuropathy.

  11. Expression of neurotrophic factors in diabetic muscle--relation to neuropathy and muscle strength.

    Science.gov (United States)

    Andreassen, C S; Jakobsen, J; Flyvbjerg, A; Andersen, H

    2009-10-01

    Diabetic polyneuropathy can lead to atrophy and weakness of distally located striated muscles due to denervation. Lack of neurotrophic support is believed to contribute to the development of diabetic neuropathy. In this study, we measured the expression of nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin 3 (NT-3), neurotrophin 4 (NT-4) and ciliary neurotrophic factor (CNTF) in muscle biopsies taken from the gastrocnemic and deltoid muscles in 42 diabetic patients and 20 healthy control subjects. To express the distal neuropathic gradient and to reduce interindividual variation, a distal/proximal ratio between expression levels in the gastrocnemic and deltoid muscles was calculated for all neurotrophic factors. Neuropathic status was determined by clinical examination, electrophysiological studies and quantitative sensory examination in diabetic patients, and muscle strength at both the shoulder and ankle was assessed by isokinetic dynamometry. Distal/proximal ratios for NT-3 were lower in diabetic patients [median (range) 110.7 (39.8-546.8)] than in controls [157.6 (63.3-385.4); (P < 0.05)], and in neuropathic diabetic patients [107.1 (39.8-326.0)] versus patients without neuropathy [134.5 (46.6-546.8); (P < 0.005)]. Further, ratios for NT-3 were related to muscle strength (r(s) = 0.41, P < 0.01) and showed a tendency towards a negative relationship to the combined score of all measures of neuropathy [Neuropathy rank-sum score (NRSS)] (r(s) = -0.27, P = 0.09). Similar trends were observed for ratios for NT-4. Ratios for NGF (r(s) = -0.32, P < 0.05) and BDNF (r(s) = -0.32, P < 0.05) were related to NRSS, but not to muscle strength. Ratios for CNTF were higher in diabetic patients [64.6 (23.7-258.7)] compared with controls [50.2 (27.2-186.4); (P < 0.05)], but showed no relationship to neither NRSS nor muscle strength. Our results show that the expression of NT-3 is reduced in striated muscles in diabetic patients and is related to

  12. Assessment of diabetic peripheral neuropathy in streptozotocin-induced diabetic rats with magnetic resonance imaging

    International Nuclear Information System (INIS)

    Wang, Dongye; Zhang, Xiang; Lu, Liejing; Li, Haojiang; Zhang, Fang; Chen, Yueyao; Shen, Jun

    2015-01-01

    To determine the role of magnetic resonance (MR) imaging and quantitative T2 value measurements in the assessment of diabetic peripheral neuropathy (DPN). Sequential MR imaging, T2 measurement, and quantitative sensory testing of sciatic nerves were performed in streptozotocin-induced diabetic rats (n = 6) and normal control rats (n = 6) over a 7-week follow-up period. Histological assessment was obtained from 48 diabetic rats and 48 control rats once weekly for 7 weeks (n = 6 for each group at each time point). Nerve signal abnormalities were observed, and the T2 values, mechanical withdrawal threshold (MWT), and histological changes were measured and compared between diabetic and control animals. Sciatic nerves in the diabetic rats showed a gradual increase in T2 values beginning at 2 weeks after the induction (P = 0.014), while a decrease in MWT started at 3 weeks after the induction (P = 0.001). Nerve T2 values had a similar time course to sensory functional deficit in diabetic rats. Histologically, sciatic nerves of diabetic rats demonstrated obvious endoneural oedema from 2 to 3 weeks after the induction, followed by progressive axonal degeneration, Schwann cell proliferation, and coexistent disarranged nerve regeneration. Nerve T2 measurement is potentially useful in detecting and monitoring diabetic neuropathy. (orig.)

  13. Assessment of diabetic peripheral neuropathy in streptozotocin-induced diabetic rats with magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Wang, Dongye; Zhang, Xiang; Lu, Liejing; Li, Haojiang; Zhang, Fang; Chen, Yueyao; Shen, Jun [Sun Yat-Sen University, Department of Radiology, Sun Yat-Sen Memorial Hospital, Guangzhou, Guangdong (China)

    2014-09-10

    To determine the role of magnetic resonance (MR) imaging and quantitative T2 value measurements in the assessment of diabetic peripheral neuropathy (DPN). Sequential MR imaging, T2 measurement, and quantitative sensory testing of sciatic nerves were performed in streptozotocin-induced diabetic rats (n = 6) and normal control rats (n = 6) over a 7-week follow-up period. Histological assessment was obtained from 48 diabetic rats and 48 control rats once weekly for 7 weeks (n = 6 for each group at each time point). Nerve signal abnormalities were observed, and the T2 values, mechanical withdrawal threshold (MWT), and histological changes were measured and compared between diabetic and control animals. Sciatic nerves in the diabetic rats showed a gradual increase in T2 values beginning at 2 weeks after the induction (P = 0.014), while a decrease in MWT started at 3 weeks after the induction (P = 0.001). Nerve T2 values had a similar time course to sensory functional deficit in diabetic rats. Histologically, sciatic nerves of diabetic rats demonstrated obvious endoneural oedema from 2 to 3 weeks after the induction, followed by progressive axonal degeneration, Schwann cell proliferation, and coexistent disarranged nerve regeneration. Nerve T2 measurement is potentially useful in detecting and monitoring diabetic neuropathy. (orig.)

  14. Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) - a case report and review of literature.

    Science.gov (United States)

    Figura, Monika; Gaweł, Małgorzata; Kolasa, Anna; Janik, Piotr

    2014-01-01

    CANVAS (cerebellar ataxia with neuropathy and vestibular areflexia syndrome) is a rare neurological syndrome of unknown etiology. The main clinical features include bilateral vestibulopathy, cerebellar ataxia and sensory neuropathy. An abnormal visually enhanced vestibulo-ocular reflex is the hallmark of the disease. We present a case of 58-year-old male patient who has demonstrated gait disturbance, imbalance and paresthesia of feet for 2 years. On examination ataxia of gait, diminished knee and ankle reflexes, absence of plantar reflexes, fasciculations of thigh muscles, gaze-evoked downbeat nystagmus and abnormal visually enhanced vestibulo-ocular reflex were found. Brain magnetic resonance imaging revealed cerebellar atrophy. Vestibular function testing showed severely reduced horizontal nystagmus in response to bithermal caloric stimulation. Nerve conduction study revealed loss of upper and lower limb sensory nerve action potentials. The course of illness was progressive with ataxic gait and unsteadiness as the most disabling symptoms. We report 4-year follow-up of the patient since the beginning of the disease. Copyright © 2014 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

  15. Subclinical peripheral neuropathy in patients with multiple myeloma before chemotherapy is correlated with decreased fingertip innervation density.

    Science.gov (United States)

    Kosturakis, Alyssa K; He, Zijing; Li, Yan; Boyette-Davis, Jessica A; Shah, Nina; Thomas, Sheeba K; Zhang, Haijun; Vichaya, Elisabeth G; Wang, Xin Shelley; Wendelschafer-Crabb, Gwen; Kennedy, William R; Simone, Donald A; Cleeland, Charles S; Dougherty, Patrick M

    2014-10-01

    The goal in this study was to determine the incidence of subclinical neuropathy in treatment-naive patients with multiple myeloma (MM) with no history of peripheral neuropathy using quantitative sensory tests (QSTs) and its correlation with innervation density of the extremities using noninvasive laser reflectance confocal microscopy. QST results were collected for 27 patients with a diagnosis of MM and compared with data collected from 30 age- and sex-matched healthy volunteers. Skin temperature, sensorimotor function (grooved pegboard test), and detection thresholds for temperature, sharpness, and low-threshold mechanical stimuli (von Frey monofilaments and bumps detection test) were measured. Meissner's corpuscle (MC) density in the fingertips was assessed using in vivo laser reflectance confocal microscopy. Patients showed a high incidence (> 80%) of ≥ one subclinical QST deficit. These included increased von Frey, bumps, and warmth detection thresholds as compared with healthy volunteers. Patients also showed increases in cold pain, sensorimotor deficits (grooved pegboard test), and higher overall neuropathy scores. MC density was significantly lower in patients than controls and showed significant inverse correlation with bumps detection threshold. Patients with MM commonly present with sensory and sensorimotor deficits before undergoing treatment, and these deficits seem to result from disease-related decreases in peripheral innervation density. © 2014 by American Society of Clinical Oncology.

  16. Fecal incontinence in systemic sclerosis is secondary to neuropathy.

    Science.gov (United States)

    Thoua, Nora M; Abdel-Halim, Mostafa; Forbes, Alastair; Denton, Chris P; Emmanuel, Anton V

    2012-04-01

    Systemic sclerosis (SSc) is a chronic multi-system autoimmune disorder with gastrointestinal tract (GIT) involvement in up to 90% of patients and anorectal involvement occurs in up to 50% of patients. The pathogenesis of gastrointestinal abnormalities may be both myogenic and neurogenic. We aimed to identify which anorectal physiological abnormalities correlate with clinical symptoms and thus understand the pathophysiology of anorectal involvement in SSc. In total, 44 SSc patients (24 symptomatic (Sx) (fecal incontinence) and 20 asymptomatic (ASx)) and 20 incontinent controls (ICs) were studied. Patients underwent anorectal manometry, rectal mucosal blood flow (RMBF), rectal compliance (barostat), and rectoanal inhibitory reflex assessment (RAIR). Anal squeeze pressure was lower in the IC group compared with both the ASx and Sx groups (IC: 46.95 (30-63.9)) vs. ASx: 104.6 (81-128.3) vs. (Sx: 121.4 (101.3-141.6); P ASx: 6.7 (5.7-7.7) vs. IC: 8.5 (6.5-10.4); P ASx and in 1/20 IC patients. Fecal incontinence in SSc is related to neuropathy as suggested by absent RAIR and higher anal sensory threshold and is related less so to sphincter atrophy and rectal fibrosis.

  17. Acupuncture Treatment of Diabetic Peripheral Neuropathy in an American Indian Community

    Directory of Open Access Journals (Sweden)

    Anne Bailey

    2017-04-01

    Full Text Available Diabetic peripheral neuropathy (DPN develops in 30% of type 2 diabetes patients, increases the risk for foot ulcers and amputation, and is a significant source of disability and medical costs. Treatment remains challenging, propelling research to focus on therapeutic methods that aim to improve blood circulation or ameliorate oxidative stress that drives development of DPN. The aim of this study was to assess the effectiveness of acupuncture treatment for DPN symptoms and lower extremity arterial circulation in people with type 2 diabetes. Twenty-five patients seen at a Southern California Tribal Health Center who reported a threshold level of diabetic neuropathy symptoms in the lower extremities during the previous 4 weeks received acupuncture treatment once per week over a 10-week period between 2011 and 2013. The Neuropathy Total Symptom Scale (NTSS-6, Neuropathy Disability Score (NDS, and laser Doppler fluxmetry (LDF were used for assessment at baseline and 10 weeks. A total of 19 of 25 study participants completed the study and reported a significant reduction in the NTSS symptoms of aching pain, burning pain, prickling sensation, numbness, and allodynia. Lancinating pain did not decrease significantly. LDF measures improved but not significantly. Acupuncture may effectively ameliorate selected DPN symptoms in these American Indian patients.

  18. Acute painful neuropathy in thallium poisoning.

    Science.gov (United States)

    Kuo, H-C; Huang, C-C; Tsai, Y-T; Chu, C-C; Hsieh, S-T; Chu, N-S

    2005-07-26

    Dysesthesia, allodynia, distal muscle weakness, and sensory impairment were noted in two patients with acute thallium intoxication. Two months later, nerve conduction studies showed an axonal degeneration. Sural nerve biopsy disclosed a decreased fiber density in the large myelinated fibers. Quantitative sensory testing also revealed an impairment of pinprick, temperature, and touch sensations. Cutaneous nerve biopsy confirmed a loss of epidermal nerves indicating an involvement of the small sensory nerves.

  19. Early vs. late intervention of high fat/low dose streptozotocin treated C57Bl/6J mice with enalapril, α-lipoic acid, menhaden oil or their combination: Effect on diabetic neuropathy related endpoints.

    Science.gov (United States)

    Yorek, Matthew S; Obrosov, Alexander; Shevalye, Hanna; Coppey, Lawrence J; Kardon, Randy H; Yorek, Mark A

    2017-04-01

    We have previously demonstrated that enalapril, α-lipoic acid and menhaden (fish) oil has potential as a treatment for diabetic peripheral neuropathy. In this study we sought to determine the efficacy of these treatments individually or in combination on multiple neuropathic endpoints in a high fat fed low dose streptozotocin treated mouse, a model of type 2 diabetes, following early or late intervention. Four or twelve weeks after the onset of hyperglycemia, diabetic mice were treated with enalapril, α-lipoic acid, menhaden oil or their combination for 12 weeks. Afterwards, endpoints including glucose tolerance, motor and sensory nerve conduction velocity, thermal nociception, and intraepidermal and cornea nerve fiber density was determined. Glucose clearance was impaired in diabetic mice and significantly improved only with combination treatment and early intervention. Diabetes caused steatosis, slowing of motor and sensory nerve conduction velocity, thermal hypoalgesia and reduction in intraepidermal and cornea nerve fiber density. Treating diabetic mice with enalapril, α-lipoic acid or menhaden oil partially protected diabetic mice from these deficits, whereas the combination of these three treatments was more efficacious following early or late intervention. These studies suggest that a combination therapy may be more effective for treating neural complications of type 2 diabetes. Published by Elsevier Ltd.

  20. Sensory nerve degeneration in a mouse model mimicking early manifestations of familial amyloid polyneuropathy due to transthyretin Ala97Ser.

    Science.gov (United States)

    Kan, H-W; Chiang, H; Lin, W-M; Yu, I-S; Lin, S-W; Hsieh, S-T

    2018-02-08

    Sensory nerve degeneration and consequent abnormal sensations are the earliest and most prevalent manifestations of familial amyloid polyneuropathy (FAP) due to amyloidogenic transthyretin (TTR). FAP is a relentlessly progressive degenerative disease of the peripheral nervous system. However, there is a lack of mouse models to replicate the early neuropathic manifestations of FAP. We established human TTR knock-in mice by replacing one allele of the mouse Ttr locus with human wild-type TTR (hTTR wt ) or human TTR with the A97S mutation (hTTR A97S ). Given the late onset of neuropathic manifestations in A97S-FAP, we investigated nerve pathology, physiology, and behavioural tests in these mice at two age points: the adult group (8 - 56 weeks) and the ageing group (> 104 weeks). In the adult group, nerve profiles, neurophysiology and behaviour were similar between hTTR wt and hTTR A97S mice. By contrast, ageing hTTR A97S mice showed small fibre neuropathy with decreased intraepidermal nerve fibre density and behavioural signs of mechanical allodynia. Furthermore, significant reductions in sural nerve myelinated nerve fibre density and sensory nerve action potential amplitudes in these mice indicated degeneration of large sensory fibres. The unaffected motor nerve physiology replicated the early symptoms of FAP patients, that is, sensory nerves were more vulnerable to mutant TTR than motor nerves. These results demonstrate that the hTTR A97S mouse model develops sensory nerve pathology and corresponding physiology mimicking A97S-FAP and provides a platform to develop new therapies for the early stage of A97S-FAP. © 2018 British Neuropathological Society.

  1. Surgery for nonarteritic anterior ischemic optic neuropathy.

    Science.gov (United States)

    Dickersin, K; Manheimer, E

    2000-01-01

    Nonarteritic ischemic optic neuropathy is characterized by sudden and painless loss of vision in one eye, accompanied by pallid swelling of the optic disc. Although various medical interventions, such as corticosteroids and phenytoin sodium, have been used to treat nonarteritic ischemic optic neuropathy, no therapy has been proven effective. The objective of this review is to assess the safety and efficacy of surgical treatment compared with other treatment or usual care in people with nonarteritic ischemic optic neuropathy. We searched the Cochrane Controlled Trials Register - Central and MEDLINE. The most recent searches were performed in December 1997. We included randomized trials comparing surgery to no surgery in people with nonarteritic ischemic optic neuropathy. We obtained full copies of all potentially relevant articles. Only one article described a randomized trial of surgery and it was eligible for inclusion. No formal assessment of quality was done. One reviewer extracted data. No synthesis was required, as there was only one trial. The one trial identified randomized 258 patients. The only published report with outcomes data for that trial presents preliminary results from 244 patients who had achieved six months of follow-up at the time of the report. Participants assigned to surgery did no better than participants assigned to careful follow-up regarding improved visual acuity of three or more lines of vision at six months: 32.6% of the surgery group improved compared with 42.7% of the careful follow-up group. The adjusted odds ratio (OR), adjusted for baseline visual acuity and diabetes, comparing the two groups for three or more lines improvement was 0.74 (95% confidence interval (CI) 0.39 to 1. 38) (surgery group improvement was worse than careful follow-up). In addition, participants receiving surgery had a significantly greater risk of losing three or more lines of vision at six months: 23.9% in the surgery group worsened compared with 12.4% in

  2. Axonal neuropathy in female carriers of the fragile X premutation with fragile x-associated tremor ataxia syndrome.

    Science.gov (United States)

    Ram, Suresh; Devapriya, Inoka A; Fenton, Grace; Mcvay, Lindsey; Nguyen, Danh V; Tassone, Flora; Maselli, Ricardo A; Hagerman, Randi J

    2015-08-01

    In this study we examined whether females with the fragile X-associated tremor ataxia syndrome (FXTAS) and non-FXTAS premutation carriers have electrophysiological signs of underlying peripheral neuropathy. Nerve conduction studies (NCS) were performed on 19 women with FXTAS, 20 non-FXTAS carriers, and 26 age-matched controls. The results were compared with existing data on corresponding male carriers. Women with FXTAS and non-FXTAS carriers had reduced sensory nerve action potential amplitudes. Also, there was a strong trend for reduced compound muscle action potential amplitudes in women with FXTAS, but not in non-FXTAS carriers. No significant slowing of nerve conduction velocities, prolongation of F-wave latencies, or associations with molecular measures was observed. This study suggests an underlying axonal neuropathy in women with FXTAS. However, in comparison to men with FXTAS, the NCS abnormalities in women were less severe, possibly due to the effect of a normal X chromosome. © 2014 Wiley Periodicals, Inc.

  3. Sensory pain qualities in neuropathic pain.

    Science.gov (United States)

    Mackey, Sean; Carroll, Ian; Emir, Birol; Murphy, T Kevin; Whalen, Ed; Dumenci, Levent

    2012-01-01

    The qualities of chronic neuropathic pain (NeP) may be informative about the different mechanisms of pain. We previously developed a 2-factor model of NeP that described an underlying structure among sensory descriptors on the Short-Form McGill Pain Questionnaire. The goal of this study was to confirm the correlated 2-factor model of NeP. Individual descriptive scores from the Short-Form McGill Pain Questionnaire were analyzed. Confirmatory factor analysis was used to test a correlated 2-factor model. Factor 1 (stabbing pain) was characterized by high loadings on stabbing, sharp, and shooting sensory items; factor 2 (heavy pain) was characterized by high loadings on heavy, gnawing, and aching items. Results of the confirmatory factor analysis strongly supported the correlated 2-factor model. This article validates a model that describes the qualities of neuropathic pain associated with diabetic peripheral neuropathy and postherpetic neuralgia. These data suggest that specific pain qualities may be associated with pain mechanisms or may be useful for predicting treatment response. Copyright © 2012 American Pain Society. Published by Elsevier Inc. All rights reserved.

  4. Cramps and small-fiber neuropathy.

    Science.gov (United States)

    Lopate, Glenn; Streif, Elizabeth; Harms, Matthew; Weihl, Christopher; Pestronk, Alan

    2013-08-01

    Muscle cramps are a common complaint and are thought to arise from spontaneous discharges of the motor nerve terminal. Polyneuropathy is often causative, but small-fiber neuropathy (SFN) has not been assessed. We performed skin biopsies on consecutive patients with cramps but without neuropathic complaints. Twelve patients were biopsied, 8 with normal small-fiber sensation. Seven patients had decreased intraepidermal nerve fiber density (IENFD), 2 with non-length-dependent loss. A cause for neuropathy was found in 1 patient with cramp-fasciculation syndrome. Creatine kinase was elevated in 8 patients, 4 with decreased IENFD. Muscle biopsy, performed in 8 patients, but was diagnostic in only 1, with McArdle disease. Our data show that 60% of patients with muscle cramps who lack neuropathic complaints have SFN, as documented by decreased IENFD. Cramps may originate as local mediators of inflammation released by damaged small nerve that excite intramuscular nerves. © 2013 Wiley Periodicals, Inc.

  5. Corneal Confocal Microscopy – A Novel, Noninvasive Method to Assess Diabetic Peripheral Neuropathy

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    Inceu Georgeta

    2014-12-01

    Full Text Available Background and aims. This article aims to compare corneal confocal microscopy (CCM with acknowledged tests of diabetic peripheral neuropathy (DPN, to assess corneal nerve morphology using CCM in diabetic patients, and to underline possible correlations between clinical and biological parameters, diabetes duration and DPN severity. Material and methods. A total of 90 patients with type 2 diabetes were included in the study for whom we measured anthropometric parameters and we performed laboratory measurements (tests. The patients were assessed for diabetic peripheral neuropathy using Semmes-Weinstein Monofilament Testing (SWMT, Rapid-Current Perception Threshold (R-CPT measurements using the Neurometer®, and CCM. We stratified the patients according to DPN severity, based on four parameters extracted after image analysis. Results. A higher percentage of patients were diagnosed with DPN using CCM (88.8%, compared with SWMT and R-CPT measurement (17.8% and 40% respectively. The incidence of DPN detected with CCM was considerable in patients with normal protective sensation and with normal R-CPT values. Conclusions. Our study showed that corneal confocal microscopy is a useful noninvasive method for diabetic neuropathy assessement in early stages. It was proven to directly quantify small fiber pathology, and to stratify neuropathic severity, and therefore can be used as a new, reliable tool in the diagnosis, clinical evaluation, and follow-up of peripheral diabetic neuropathy.

  6. Cardio-Ankle Vascular Index and Indices of Diabetic Polyneuropathy in Patients with Type 2 Diabetes

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    Akihiko Ando

    2017-01-01

    Full Text Available The cardio-ankle vascular index (CAVI is used to test vascular function and is an arterial stiffness marker and potential predictor of cardiovascular events. This study aimed to analyze the relation between objective indices of diabetic polyneuropathy (DPN and the CAVI. One hundred sixty-six patients with type 2 diabetes mellitus were included in this study. We used nerve conduction studies (NCSs and the coefficient of variation of the R-R interval to evaluate DPN. We estimated arteriosclerosis by the CAVI. Simple and multiple linear regression analyses were performed between neuropathy indices and the CAVI. In univariate analysis, the CAVI showed significant associations with sural sensory nerve conduction velocity and median F-wave conduction velocity. Multiple linear regression analysis for the CAVI showed that sural nerve conduction velocity and median F-wave conduction velocity were significant explanatory variables second only to age. In multiple linear regression analysis for sural nerve conduction velocity among neuropathy indices, the CAVI remained the most significant explanatory variable. In multiple linear regression analysis for median nerve F-wave conduction velocity among neuropathy indices, the CAVI remained the second most significant explanatory variable following HbA1c. These results suggest a close relationship between macroangiopathy and DPN.

  7. [Assessment of a patient with optic neuropathy].

    Science.gov (United States)

    Roceanu, Adina; Romaniţan, Oana; Antochi, Florina; Tiu, Cristina; Băjenaru, Ovidiu; Pascu, Ruxandra; Alexandrescu, Cristina; Nanea, Mariana; Voinea, Liliana

    2010-01-01

    Optic neuropathy (ON) is defined as the reduction of vision due to inflammatory lesion of the optic nerve. The patient with ON has to be evaluated clinically but also with complex techniques (magnetic resonance imaging, visual evoked potentials, cerebrospinal fluid examination) because ON could be the presenting symptom in multiple sclerosis patients. Corticosteroids should be administrated intravenous and the patient should be followed by the neurologist in order to signal the appearance of new neurological signs.

  8. Somatic DNA Damages in Cardiovascular Autonomic Neuropathy

    OpenAIRE

    Supriya Simon, A.; Dinesh Roy, D.; Jayapal, V.; Vijayakumar, T.

    2010-01-01

    Cardiovascular autonomic neuropathy (CAN) is one of the most clinically significant complications of diabetes mellitus. Even though many ethological factors have been attributed for the pathogenesis of this disease no attempts were made to correlate DNA damage as a causative factor. Hence the present study was undertaken to asses the extent of somatic DNA damages by cytokinesis-block micronuclei assay (CBMN). An attempt is also being made to correlate the habits and/or risk factors and socioe...

  9. Saturday Morning Palsy: Closed Traumatic Peripheral Neuropathy

    OpenAIRE

    NN Wazir

    2007-01-01

    Traumatic peripheral neuropathy can occur following fracture, dislocation, forceful reduction or direct compression. During the emergency medical relief mission for earthquake victims in Pakistan, between 30th Oct and 14th Nov 2005, four patients presented with wrist drop and two others with foot drop, all with no underlying fracture or dislocation. All of them were attended by medical teams two to three days for the first time due to difficult rescue work and hard terrain. They were seen in ...

  10. Recurrent painful ophthalmoplegic neuropathy; A case report

    OpenAIRE

    Semra Saygi; Tulun Savas; ilknur Erol

    2014-01-01

    Recurrent painful ophthalmoplegic neuropathy, typically seen as a serious childhood migraine attack which is followed by ptosis and diplopia due to oculomotor nerve palsy. This is regarded as a form of migraine in the previous classifications but according to the latest classification of the International Headache Society has been recognized as cranial neuralgia. Due to the poor pathological and radiological findings of oculomotor nerve during attack, it is difficult to make differential diag...

  11. Asociación de la neuropatía autonómica cardiovascular y el intervalo QT prolongado con la morbimortalidad cardiovascular en pacientes con diabetes mellitus tipo 2 Association of cardiovascular autonomic neuropathy and prolonged QT interval with cardiovascular morbidity and mortality in patients with type 2 diabetes mellitus

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    Ray Ticse Aguirre

    2011-03-01

    Full Text Available Con el objetivo de evaluar la relación entre la neuropatía autonómica cardiovascular (NACV y el intervalo QT corregido (QTc con la morbimortalidad cardiovascular en pacientes con diabetes mellitus tipo 2, se realizó el seguimiento a 5 años de 67 pacientes que acudieron a consulta externa del Servicio de Endocrinología. Se presentaron eventos cardiovasculares en 16 pacientes; el 82% completó el seguimiento y se encontró que el intervalo QTc prolongado fue la única variable que se asoció de forma significativa a morbimortalidad cardiovascular en el análisis de regresión logística múltiple (RR: 13,56; IC 95%: 2,01-91,36 (p=0,0074.In order to evaluate the relationship between cardiovascular autonomic neuropathy and corrected QT interval (QTc with cardiovascular morbidity and mortality in patients with type 2 diabetes mellitus, we followed up for 5 years 67 patients attending the outpatient Endocrinology Service. 82% completed follow-up and cardiovascular events occurred in 16 patients. We found that long QTc interval was the only variable significantly associated with cardiovascular morbidity and mortality in the multiple logistic regression analysis (RR: 13.56, 95% CI: 2.01-91.36 (p = 0.0074.

  12. Fuzzy expert system for diagnosing diabetic neuropathy.

    Science.gov (United States)

    Rahmani Katigari, Meysam; Ayatollahi, Haleh; Malek, Mojtaba; Kamkar Haghighi, Mehran

    2017-02-15

    To design a fuzzy expert system to help detect and diagnose the severity of diabetic neuropathy. The research was completed in 2014 and consisted of two main phases. In the first phase, the diagnostic parameters were determined based on the literature review and by investigating specialists' perspectives ( n = 8). In the second phase, 244 medical records related to the patients who were visited in an endocrinology and metabolism research centre during the first six months of 2014 and were primarily diagnosed with diabetic neuropathy, were used to test the sensitivity, specificity, and accuracy of the fuzzy expert system. The final diagnostic parameters included the duration of diabetes, the score of a symptom examination based on the Michigan questionnaire, the score of a sign examination based on the Michigan questionnaire, the glycolysis haemoglobin level, fasting blood sugar, blood creatinine, and albuminuria. The output variable was the severity of diabetic neuropathy which was shown as a number between zero and 10, had been divided into four categories: absence of the disease, (the degree of severity) mild, moderate, and severe. The interface of the system was designed by ASP.Net (Active Server Pages Network Enabled Technology) and the system function was tested in terms of sensitivity (true positive rate) (89%), specificity (true negative rate) (98%), and accuracy (a proportion of true results, both positive and negative) (93%). The system designed in this study can help specialists and general practitioners to diagnose the disease more quickly to improve the quality of care for patients.

  13. Optic neuropathy in a patient with pyruvate dehydrogenase deficiency

    Energy Technology Data Exchange (ETDEWEB)

    Small, Juan E. [Massachusetts General Hospital and Harvard Medical School, Department of Radiology, Boston, MA (United States); Gonzalez, Guido E. [Massachusetts Eye and Ear Infirmary and Harvard Medical School, Department of Radiology, Boston, MA (United States); Clinica Alemana de Santiago, Departmento de Imagenes, Santiago (Chile); Nagao, Karina E.; Walton, David S. [Massachusetts Eye and Ear Infirmary and Harvard Medical School, Department of Ophthalmology, Boston, MA (United States); Caruso, Paul A. [Massachusetts Eye and Ear Infirmary and Harvard Medical School, Department of Radiology, Boston, MA (United States)

    2009-10-15

    Pyruvate dehydrogenase (PDH) deficiency is a genetic disorder of mitochondrial metabolism. The clinical manifestations range from severe neonatal lactic acidosis to chronic neurodegeneration. Optic neuropathy is an uncommon clinical sequela and the imaging findings of optic neuropathy in these patients have not previously been described. We present a patient with PDH deficiency with bilateral decreased vision in whom MRI demonstrated bilateral optic neuropathy and chiasmopathy. (orig.)

  14. Functional sensory symptoms

    NARCIS (Netherlands)

    Stone, J.; Vermeulen, M.

    2017-01-01

    Functional (psychogenic) sensory symptoms are those in which the patient genuinely experiences alteration or absence of normal sensation in the absence of neurologic disease. The hallmark of functional sensory symptoms is the presence of internal inconsistency revealing a pattern of symptoms

  15. Sensory correlations in autism.

    Science.gov (United States)

    Kern, Janet K; Trivedi, Madhukar H; Grannemann, Bruce D; Garver, Carolyn R; Johnson, Danny G; Andrews, Alonzo A; Savla, Jayshree S; Mehta, Jyutika A; Schroeder, Jennifer L

    2007-03-01

    This study examined the relationship between auditory, visual, touch, and oral sensory dysfunction in autism and their relationship to multisensory dysfunction and severity of autism. The Sensory Profile was completed on 104 persons with a diagnosis of autism, 3 to 56 years of age. Analysis showed a significant correlation between the different processing modalities using total scores. Analysis also showed a significant correlation between processing modalities for both high and low thresholds, with the exception that auditory high threshold processing did not correlate with oral low threshold or touch low threshold processing. Examination of the different age groups suggests that sensory disturbance correlates with severity of autism in children, but not in adolescents and adults. Evidence from this study suggests that: all the main modalities and multisensory processing appear to be affected; sensory processing dysfunction in autism is global in nature; and sensory processing problems need to be considered part of the disorder.

  16. Probabilistic sensory recoding.

    Science.gov (United States)

    Jazayeri, Mehrdad

    2008-08-01

    A hallmark of higher brain functions is the ability to contemplate the world rather than to respond reflexively to it. To do so, the nervous system makes use of a modular architecture in which sensory representations are dissociated from areas that control actions. This flexibility however necessitates a recoding scheme that would put sensory information to use in the control of behavior. Sensory recoding faces two important challenges. First, recoding must take into account the inherent variability of sensory responses. Second, it must be flexible enough to satisfy the requirements of different perceptual goals. Recent progress in theory, psychophysics, and neurophysiology indicate that cortical circuitry might meet these challenges by evaluating sensory signals probabilistically.

  17. Multifocal visual evoked potential in optic neuritis, ischemic optic neuropathy and compressive optic neuropathy

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    Manju Jayaraman

    2014-01-01

    Full Text Available Purpose: To investigate the effect of optic neuritis (ON, ischemic optic neuropathy (ION and compressive optic neuropathy (CON on multifocal visual evoked potential (mfVEP amplitudes and latencies, and to compare the parameters among three optic nerve disorders. Materials and Methods: mfVEP was recorded for 71 eyes of controls and 48 eyes of optic nerve disorders with subgroups of optic neuritis (ON, n = 21 eyes, ischemic optic neuropathy (ION, n = 14 eyes, and compressive optic neuropathy (CON, n = 13 eyes. The size of defect in mfVEP amplitude probability plots and relative latency plots were analyzed. The pattern of the defect in amplitude probability plot was classified according to the visual field profile of optic neuritis treatment trail (ONTT. Results: Median of mfVEP amplitude (log SNR averaged across 60 sectors were reduced in ON (0.17 (0.13-0.33, ION (0.14 (0.12-0.21 and CON (0.21 (0.14-0.30 when compared to controls. The median mfVEP relative latencies compared to controls were significantly prolonged in ON and CON group of 10.53 (2.62-15.50 ms and 5.73 (2.67-14.14 ms respectively compared to ION group (2.06 (-4.09-13.02. The common mfVEP amplitude defects observed in probability plots were diffuse pattern in ON, inferior altitudinal defect in ION and temporal hemianopia in CON eyes. Conclusions: Optic nerve disorders cause reduction in mfVEP amplitudes. The extent of delayed latency noted in ischemic optic neuropathy was significantly lesser compared to subjects with optic neuritis and compressive optic neuropathy. mfVEP amplitudes can be used to objectively assess the topography of the visual field defect.

  18. NEUROPHYSIOLOGICAL EVALUATION OF SENSORY SYSTEMS'

    Science.gov (United States)

    Exposure to many neurotoxic compounds has been shown to produce a sensory system dysfunction. Neurophysiological assessment of sensory function in humans and animal models often uses techniques known as sensory evoked potentials. Because both humans and animals show analogous res...

  19. Clinicopathological study of vasculitic peripheral neuropathy

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    Rong-fang DONG

    2014-06-01

    Full Text Available Objective To summarize the clinical features and neuropathological characteristics in patients with vasculitic peripheral neuropathy (VPN. Methods Clinical manifestations, laboratory examination and neuromuscular biopsy characteristics of 11 patients with VPN were retrospectively analyzed. The lesion of nerve, muscle and skin was observed under optical and electron microscope. Immunohistochemical analyses were carried out to detect neurofilament (NF, myelin basic protein (MBP, peripheral myelin protein 22 (PMP22 and S-100 protein (S-100 and further observing the neuropathy of neuraxon, myelin sheath and Schwann cells, and to detect human leukocyte antigen DR (HLA-DR, CD68, CD3 and CD20 to observe inflammatory cell infiltration. Immunofluorescent staining was used to detect the deposition of IgA, IgM, IgG and addiment C3 on vascular wall. The staining of periodic acid-Schiff (PAS, NADH-tetrazolium reductase (NADH-TR and modified Gomori trichrome (MGT were used to judge the myopathy. Results 1 Angiopathies were mainly manifested by small vessels of epineurium and perineurium, and infiltrated inflammatory cells were mainly CD3 + T cells. Three patients had active vasculitis, and 8 patients had non-active vasculitis. Among these 8 patients, 4 patients mainly presented fibrous obliteration of blood vessel, with slight inflammatroy cell infiltration, and the other 4 patients mainly showed perivascular inflammation. 2 Neuropathy: 6 patients had axon degeneration, and 5 patients had axon degeneration associated with demyelination. All of them demonstrated a reduction in myelinated fibers, mainly large diameter myelinated fibers, even on end-stage. 3 Muscle biopsy showed neurogenic atrophy. 4 Clinicopathologic diagnosis: among these 11 patients, 8 patients were diagnosed as systemic vasculitic peripheral neuropathy (SVPN, among whom 5 patients were diagnosed as primary systemic vasculitis [including 1 patient as Churg-Strauss syndrome (CSS, 2 patients as

  20. Aspectos da composição química e aceitação sensorial da aguardente de cana-de-açúcar envelhecida em tonéis de diferentes madeiras Aspects of the chemical composition and sensorial acceptance of sugar cane spirit aged in casks of different types of woods

    Directory of Open Access Journals (Sweden)

    André Ricardo Alcarde

    2010-05-01

    sugar cane spirit aged for 3 years in casks of different types of wood (peanut wood, araruva or striped wood, red cabreuva, oak, cherrywood, Brazilian gold wood, purple tabebuia, cariniana legalis, and pear tree. The simple alcoholic distillate which originated the sugar cane spirit was produced at the Distillery of ESALQ/USP. After aging, the sugar cane spirits were analyzed in terms of ethanol concentrations o, volatile acidity, furfural, aldehydes, esters, higher alcohols, methanol, copper, total phenolic compounds, color, and sensorial acceptance. Regardless the type of wood the casks were made of, the aged sugar cane spirits became darker and presented higher concentrations of volatile acidity, furfural, esters, higher alcohols, congeners, and total phenolic compounds than the simple alcoholic distillate. On the other hand, the aged sugar cane spirits presented lower concentrations of aldehydes, methanol, and copper than the simple alcoholic distillate. The statistical analysis, considering the global physicochemical composition of the sugar cane spirits aged in the casks made of different types of wood, showed similarities among the sugar cane spirits aged in the casks of peanut wood, araruva or striped wood, and cariniana legalis. It also indicates similarities among the sugar cane spirits aged in the casks of red cabreuva and pear tree and among the sugar cane spirits aged in the casks of oak, cherrywood, Brazilian gold wood, and purple tabebuia. The sugar cane spirits aged in the casks of the different types of wood were in accordance with the composition and quality standards established by the Brazilian laws. The sugar cane spirit aged in oak presented the best sensorial acceptance. Among the