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Sensory neuropathy

D Kabzińska, H Mierzewska, J Senderek, A Kochański
The Warburg micro syndrome (WARBM) is a genetically heterogeneous syndrome linked to at least 4 loci. At the clinical level, WARBM is characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, corpus callosum hypoplasia, severe mental retardation, and hypogonadism. In some families additional clinical features have been reported. The presence of uncommon clinical features (peripheral neuropathy, cardiomyopathy) may result in misdirected molecular diagnostics. Using the next generation sequencing approach (NGS), we were able to diagnose WARBM1 syndrome by detection of a new mutation within the RAB3GAP1 gene...
2016: Folia Neuropathologica
Yohannes W Woldeamanuel, Peter R Kamerman, Demetri G A Veliotes, Tudor J Phillips, David Asboe, Marta Boffito, Andrew S C Rice
HIV-associated sensory peripheral neuropathy (HIV-SN) afflicts approximately 50% of patients on antiretroviral therapy, and is associated with significant neuropathic pain. Simple accurate diagnostic instruments are required for clinical research and daily practice in both high- and low-resource setting. A 4-item clinical tool (CHANT: Clinical HIV-associated Neuropathy Tool) assessing symptoms (pain and numbness) and signs (ankle reflexes and vibration sense) was developed by selecting and combining the most accurate measurands from a deep phenotyping study of HIV positive people (Pain In Neuropathy Study-HIV-PINS)...
2016: PloS One
Seok-Youl Choi, Jong Woong Park, Dong Hwee Kim
Ultrasonographic study is useful for decision making of treatment for focal neuropathy with unusual electrodiagnostic findings. We present a patient with severe acute radial neuropathy with sensory sparing around the distal arm secondary to twisting of the radial nerve following blunt trauma. A 24-year-old man with a 2-week history of left wrist drop and severe pain around the left elbow presented after hitting the left distal arm on the doorknob. The left wrist and finger extensions were grade 0, but elbow extension could not be tested because of severe pain during this action...
November 2016: American Journal of Physical Medicine & Rehabilitation
V V Ashraf, J Prijesh, R Praveenkumar, K Saifudheen
Hyperemesis gravidarum-induced Wernicke's encephalopathy (WE) is an underestimated condition. The purpose of this study is to improve its awareness and early diagnosis. We report five cases of WE secondary to hyperemesis gravidarum. Classic triad of encephalopathy, ataxia, and ocular signs was seen in four out of five patients. Two unusual features noted in this series were papilledema in one patient and severe sensory-motor peripheral neuropathy in one patient. Magnetic resonance imaging (MRI) was abnormal in all the five patients, and high signal in medial thalamus and surrounding the aqueduct was the most common abnormality (5/5)...
October 2016: Journal of Postgraduate Medicine
Zixin Yong, Po-Jang Hsieh, Dan Milea
Acquired auditory-visual synesthesia (AVS) is a rare neurological sign, in which specific auditory stimulation triggers visual experience. In this study, we used event-related fMRI to explore the brain regions correlated with acquired monocular sound-induced phosphenes, which occurred 2 months after unilateral visual loss due to an ischemic optic neuropathy. During the fMRI session, 1-s pure tones at various pitches were presented to the patient, who was asked to report occurrence of sound-induced phosphenes by pressing one of the two buttons (yes/no)...
October 19, 2016: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
Athanasios Papathanasiou, Ioannis Markakis
Guillain-Barré syndrome (GBS) is mainly classified into acute inflammatory demyelinating polyneuropathy (AIDP) and acute motor axonal neuropathy (AMAN). Although diagnosis of GBS requires progressive weakness and universal areflexia or hyporeflexia, cases of GBS with preserved or increased deep tendon reflexes (DTRs) have been increasingly recognized. We report three cases of GBS, presenting at a single unit in six months. Our first case presented with pure sensory symptoms. The second case had nonspecific generalized weakness, while the third presented with typical ascending weakness...
2016: Case Reports in Emergency Medicine
Felice N van Erning, Maryska L G Janssen-Heijnen, Johannes A Wegdam, Gerrit D Slooter, Jan H Wijsman, Art Vreugenhil, Tonneke A J M Beijers, Lonneke V van de Poll-Franse, Valery E P P Lemmens
INTRODUCTION: Among the elderly, the impairment of functional capacities due to neuropathy can have a significant impact. The aim of the present study was to investigate the course of neuropathic symptoms among elderly patients with stage III colon cancer treated with CAPOX (capecitabine, oxaliplatin), capecitabine monotherapy, or no adjuvant chemotherapy. MATERIALS AND METHODS: The Netherlands Cancer Registry was used to select patients with stage III colon cancer and aged ≥ 70 years...
September 17, 2016: Clinical Colorectal Cancer
Heung Yong Jin, Na Young Lee, Hyun A Ko, Kyung Ae Lee, Tae Sun Park
Although diabetic peripheral neuropathy (DPN) and chemotherapy-induced peripheral neuropathy (CIPN) are different disease entities, they share similar neuropathic symptoms that impede quality of life for these patients. Despite having very similar downstream effects, there have been no direct comparisons between DPN and CIPN with respect to symptom severity and therapeutic responses. We compared peripheral nerve damage due to hyperglycemia with that caused by paclitaxel (PAC) treatment as represented by biochemical parameters, diverse sensory tests, and immunohistochemistry of cutaneous and sciatic nerves...
October 18, 2016: Somatosensory & Motor Research
Rose Gelineau-Morel, Marshall Lukacs, K Nicole Weaver, Robert B Hufnagel, Donald L Gilbert, Rolf W Stottmann
Whole exome sequencing continues to end the diagnostic odyssey for a number of patients and expands our knowledge of phenotypes associated with gene mutations. We describe an 11-year-old female patient with a constellation of symptoms including congenital cataracts, gut dysmotility, sensory neuropathy, and bifrontal polymicrogyria. Whole exome sequencing was performed and identified a de novo heterozygous missense mutation in the ATPase motor domain of cytoplasmic dynein heavy chain 1 (DYNC1H1), which is known to be involved in neuronal migration and retrograde axonal transport...
October 14, 2016: Genes
Jason Fleming, Dianna Quan
We present a patient with congenital spinal muscular atrophy associated with pain, subjective sensory loss, right talipes equinovarus, delayed walking, and progressive gait impairment. A sister and niece reportedly had Charcot-Marie-Tooth 1A, but the patient's electromyogram showed an axonal motor neuropathy or neuronopathy. We identified a c.806G>A TRPV4 gene mutation causing an Arg269His amino acid substitution. TRPV4 mutations cause variable phenotypes including axonal sensorimotor neuropathy and motor neuropathy or neuronopathy...
September 16, 2016: Neuromuscular Disorders: NMD
Alexander U Brandt, Elena Meinert-Bohn, Jan Leo Rinnenthal, Hanna Zimmermann, Janine Mikolajczak, Timm Oberwahrenbrock, Sebastian Papazoglou, Caspar F Pfüller, Johann Schinzel, Björn Tackenberg, Friedemann Paul, Katrin Hahn, Judith Bellmann-Strobl
BACKGROUND: The PMP22 gene encodes a protein integral to peripheral myelin. Its deletion leads to hereditary neuropathy with liability to pressure palsies (HNPP). PMP22 is not expressed in the adult central nervous system, but previous studies suggest a role in CNS myelin development. The objective of this study was to identify potential structural and functional alterations in the afferent visual system in HNPP patients. METHODS: Twenty HNPP patients and 18 matched healthy controls (HC) were recruited in a cross-sectional study...
2016: PloS One
M Andriamamonjy, J-B Delmotte, F Savinelli, H Beaussier, F Coudore
INTRODUCTION: Oxaliplatin is a platinum derivate widely used in cancer treatment but producing dose-limiting peripheral neurotoxicity. Acute neuropathy is characterized by a transient cold-induced distal allodynia whereas chronic neuropathy leads to sensory loss. In order to design a method for quantitative assessment of oxaliplatin-induced peripheral neuropathy, we developed a study that aims to characterize the most appropriate skin area of the hand to perform sensory tests. METHODS: We included patients treated during at least 6 months with oxaliplatin...
October 1, 2016: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
David M Simpson, Jessica Robinson-Papp, Joanna Van, Malcolm Stoker, Hélène Jacobs, Robert J Snijder, Diederik S Schregardus, Stephen K Long, Bruno Lambourg, Nathaniel Katz
: This 12-week study evaluated the efficacy and safety of capsaicin 8% patch versus placebo patch in painful diabetic peripheral neuropathy (PDPN). Patients aged ≥18 years with PDPN were randomized (1:1) to one 30-minute treatment (capsaicin 8% patch or placebo patch) to painful areas of feet. Overall, 369 patients were randomized (capsaicin 8% patch, n=186; placebo patch, n=183). Percentage reduction in average daily pain score from baseline to between Weeks 2-8 (the primary endpoint) was statistically significant for capsaicin 8% patch versus placebo (-27...
October 13, 2016: Journal of Pain: Official Journal of the American Pain Society
Eman M Khedr, Gharib Fawi, Mohammed Abd-Allah Abbas, Noha Abo El-Fetoh, Ahmed F Zaki, Ayman Gamea, Ghada Al Attar
BACKGROUND: Few epidemiological studies of the prevalence of neuromuscular disorders have been undertaken. The aim of the study was to estimate the prevalence of the most common types of neuromuscular disorders in Qena governorate/Egypt. METHODS: A random sample was taken from 11 districts, involving 9303 inhabitants with 57.3% urban residents and 42.7% rural residence. Patients were diagnosed using a screening questionnaire for the diagnosis of neuromuscular disorders...
October 17, 2016: Neurological Research
Betty Laverdet, Dorothée Girard, Audrey Bayout, Nelly Bordeau, Claire Demiot, Alexis Desmoulière
BACKGROUND: Damage to the peripheral nervous system influences wound healing and, after a deep burn, imperfect cutaneous nerve regeneration occurs. A third-degree burn model was developed in rats combined with the use of resiniferatoxin (RTX), known to promote sensory neuropathy. METHODS: Rats were injected intraperitoneally either with RTX or vehicle. A mechanical sensory assay and the hot plate thermal sensory test were performed. The structural integrity of the sciatic nerve was assessed using transmission electron microcopy...
October 12, 2016: Burns: Journal of the International Society for Burn Injuries
M Moore, S Gill, T Asmis, S Berry, R Burkes, K Zbuk, T Alcindor, A Jeyakumar, T Chan, S Rao, J Spratlin, P A Tang, J Rothenstein, E Chan, J Bendell, F Kudrik, J Kauh, S Tang, L Gao, S R P Kambhampati, F Nasroulah, L Yang, N Ramdas, P Binder, E Strevel
BACKGROUND: Icrucumab and ramucirumab are recombinant human IgG1 monoclonal antibodies that bind VEGF receptors 1 and 2 (VEGFR-1 and -2), respectively. This randomized phase II study evaluated the antitumor activity and safety of icrucumab and ramucirumab each in combination with mFOLFOX-6 in patients with metastatic colorectal cancer after disease progression on first-line therapy with a fluoropyrimidine and irinotecan. PATIENTS AND METHODS: Eligible patients were randomly assigned to receive mFOLFOX-6 alone (mFOLFOX-6) or in combination with ramucirumab 8 mg/kg IV (RAM+mFOLFOX-6) or icrucumab 15 mg/kg IV (ICR+mFOLFOX-6) every 2 weeks...
October 11, 2016: Annals of Oncology: Official Journal of the European Society for Medical Oncology
Manuel P Pereira, Sebastian Mühl, Esther M Pogatzki-Zahn, Konstantin Agelopoulos, Sonja Ständer
In recent years, measurement of the intraepidermal nerve fiber (IENF) density has gained relevance in the diagnostics of chronic pruritus. This method allows the objectification and quantification of a small-fiber neuropathy, which may manifest clinically with pruritus, pain or dysesthetic sensory symptoms, such as burning, stinging and tingling sensations or numbness. Upon suspicion of a small-fiber neuropathy as a cause for chronic pruritus, targeted diagnostic procedures are essential for the early detection of the neuroanatomical changes...
October 11, 2016: Dermatology and Therapy
Burcu Örmeci, Egemen Avcı, Çigdem Kaspar, Özlem Eranıl Terim, Tibet Erdoğru, A Emre Öge
OBJECTIVES: To examine the diagnostic value of pudendal somatosensory evoked potentials (SEP) in pudendal nerve entrapment neuropaty (PNE) by stimulating the two sides separately after provocation by a standard sitting position. Routine pudendal SEPs performed in the supine position with bilateral simultaneous stimulation may fail to show the abnormality because the complaints of PNE appear or worsen in the sitting position. METHODS: Forty-nine patients with PNE and 16 controls were included...
October 7, 2016: Urology
Christoph Rochlitz, Martin Bigler, Roger von Moos, Jürg Bernhard, Klazien Matter-Walstra, Andreas Wicki, Khalil Zaman, Sandro Anchisi, Marc Küng, Kyung-Jae Na, Daniela Bärtschi, Markus Borner, Tamara Rordorf, Daniel Rauch, Andreas Müller, Thomas Ruhstaller, Marcus Vetter, Andreas Trojan, Ursula Hasler-Strub, Richard Cathomas, Ralph Winterhalder
BACKGROUND: Adding bevacizumab to chemotherapy improves response rates and progression-free survival (PFS) in metastatic breast cancer (mBC). We aimed to demonstrate decreased toxicity with metronomic chemotherapy/bevacizumab compared with paclitaxel/bevacizumab. METHODS: This multicenter, randomized phase III trial compared bevacizumab with either paclitaxel (arm A) or daily oral capecitabine-cyclophosphamide (arm B) as first-line treatment in patients with HER2-negative advanced breast cancer...
October 10, 2016: BMC Cancer
Raghav Sundar, Anand D Jeyasekharan, Brendan Pang, Richie Chuan Teck Soong, Nesaretnam Barr Kumarakulasinghe, Samuel Guan Wei Ow, Jingshan Ho, Joline Si Jing Lim, David Shao Peng Tan, Einar P V Wilder-Smith, Aishwarya Bandla, Stacey Sze Hui Tan, Bernadette Reyna Asuncion, Zul Fazreen, Michal Marek Hoppe, Thomas Choudary Putti, Lay Mui Poh, Boon Cher Goh, Soo-Chin Lee
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 tissue found within the sample...
2016: PloS One
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