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https://www.readbyqxmd.com/read/28530322/-oro-dento-facial-manifestations-in-patients-with-familial-dysautonomia
#1
REVIEW
Eliyahu Mass
The oro-dento-facial features and dysfunctions of children with hereditary sensory and autonomic neuropathy type III (HSAN III), known as familial dysautonomia (FD) or Riley-Day syndrome, were first described in the scientific literature in 1949. They include: dental trauma, dental and soft tissue selfmutilation, normal dental age, normal sequence and timing of eruption and exfoliation of teeth, smaller tooth size, different and disproportional tooth components, normal alveolar bone height, small jaws, mild crowding and malocclusion...
August 2016: Harefuah
https://www.readbyqxmd.com/read/28530263/utricular-hypofunction-in-patients-with-type-2-diabetes-mellitus
#2
K Jáuregui-Renaud, C Aranda-Moreno, A Herrera-Rangel
The aim of this study was to assess the function of the utricle and horizontal semicircular canals in patients with type 2 diabetes mellitus receiving primary health care, with/without a history of falls. 101 patients with type 2 diabetes mellitus, 34 to 84 years old (26 with and 75 without a history of falls) and 51 healthy volunteers (40-83 years old) accepted to participate. They denied having a history of dizziness, vertigo, unsteadiness, hearing loss or neurological disorders. None of them were seeking care due to sensory or balance decline...
May 22, 2017: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/28528666/role-of-nonneuronal-trpv4-signaling-in-inflammatory-processes
#3
Pradeep Rajasekhar, Daniel P Poole, Nicholas A Veldhuis
Transient receptor potential (TRP) ion channels are important signaling components in nociceptive and inflammatory pathways. This is attributed to their ability to function as polymodal sensors of environmental stimuli (chemical and mechanical) and as effector molecules in receptor signaling pathways. TRP vanilloid 4 (TRPV4) is a nonselective cation channel that is activated by multiple endogenous stimuli including shear stress, membrane stretch, and arachidonic acid metabolites. TRPV4 contributes to many important physiological processes and dysregulation of its activity is associated with chronic conditions of metabolism, inflammation, peripheral neuropathies, musculoskeletal development, and cardiovascular regulation...
2017: Advances in Pharmacology
https://www.readbyqxmd.com/read/28526993/microvascular-complications-associated-with-rapid-improvements-in-glycemic-control-in-diabetes
#4
REVIEW
Christopher H Gibbons, Ann Goebel-Fabbri
PURPOSE OF REVIEW: Aggressive glycemic control has become the standard clinical approach to diabetes care. Unintended consequences have included the development of microvascular complications that are related to the rapidity of glycemic improvement. RECENT FINDINGS: Diabetic neuropathy may develop in up to 10% of individuals secondary to aggressive glycemic control. The neuropathy is predominantly small fiber sensory and autonomic, and the severity of the neuropathy is tied to the change in the glycosylated hemoglobin A1C...
July 2017: Current Diabetes Reports
https://www.readbyqxmd.com/read/28523213/brachial-plexus-magnetic-resonance-imaging-differentiates-between-inflammatory-neuropathies-and-does-not-predict-disease-course
#5
Bas A Jongbloed, Jeroen W Bos, Dirk Rutgers, Willem Ludo van der Pol, Leonard H van den Berg
OBJECTIVE: The main objective of this study was to evaluate the correlation between the distribution of brachial plexus magnetic resonance imaging (MRI) abnormalities and clinical weakness, and to evaluate the value of brachial plexus MRI in predicting disease course and response to treatment in multifocal motor neuropathy (MMN), Lewis-Sumner syndrome (LSS) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). METHODS: Sixty-seven patients with an inflammatory neuropathy diagnosed at our tertiary referral center for neuromuscular diseases had undergone bilateral T2-weighted short tau inversion recovery (STIR) MRI of the brachial plexus...
May 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28515269/effect-of-omega-3-supplementation-on-neuropathy-in-type-1-diabetes-a-12-month-pilot-trial
#6
Evan J H Lewis, Bruce A Perkins, Leif E Lovblom, Richard P Bazinet, Thomas M S Wolever, Vera Bril
OBJECTIVE: 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). METHODS: 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...
May 17, 2017: Neurology
https://www.readbyqxmd.com/read/28512503/massive-oculomotor-nerve-enlargement-a-case-of-presumed-schwannomatosis
#7
Laura Donaldson, Ryan Rebello, Amadeo Rodriguez
A 45-year-old man presented with a slowly progressive pupil-involving third nerve palsy. Magnetic resonance imaging (MRI) revealed a tubular lesion extending from the interpeduncular cistern through the cavernous sinus and into the left orbit where it branched into a superior and an inferior division, clearly outlining the anatomy of the third cranial nerve. Multiple other, less pronounced, enlarged cranial nerves were noted. The differential diagnosis included chronic inflammatory demyelinating polyneuropathy (CIDP), hereditary motor and sensory neuropathy (HMSN), neurofibromatosis (NF), and schwannomatosis...
June 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/28511376/nerve-conduction-study-on-sural-nerve-among-nepalese-tailors-using-mechanical-sewing-machine
#8
Prakash Kumar Yadav, Ram Lochan Yadav, Deepak Sharma, Dev Kumar Shah, Dilip Thakur, Nirmala Limbu, Md Nazrul Islam
INTRODUCTION: The use of new technologies and innovations are out of access for people living in a developing country like Nepal. The mechanical sewing machine is still in existence at a large scale and dominant all over the country. Tailoring is one of the major occupations adopted by skilled people with lower socioeconomic status and education level. Sural nerves of both right and left legs are exposed to strenuous and chronic stress exerted by chronic paddling of mechanical sewing machine with legs...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28509084/whole-exome-sequencing-identifies-a-novel-homozygous-frameshift-mutation-in-the-mtmr2-gene-as-a-causative-mutation-in-a-patient-with-charcot-marie-tooth-disease-type-4b1
#9
Tameemi Abdalla-Moady, Amir Peleg, Orit Sadeh, Khader Badarneh, Fuad Fares
Charcot-Marie-Tooth (CMT) disease refers to a heterogeneous group of axonal and demyelinating polyneuropathies, characterized by chronic motor and sensory dysfunction. CMT is the most common genetic cause of neuropathy. The present study aimed to identify the gene mutation responsible for CMT in Ashkenazi Jew (AJ) patient. Genomic DNA was extracted from whole blood leukocytes of affected family and normal subject. Whole-exome sequencing was performed using the Illumina HiSeq2500. The DNA region containing the identified mutation was amplified by PCR and sequenced using dye-terminator chemistry and the forward primer...
May 16, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28506529/guillain-barr%C3%A3-syndrome-in-a-patient-with-renal-cell-carcinoma-following-the-first-course-of-pazopanib-therapy
#10
Hiroaki Koshikawa, Tomomi Tsukie, Akira Kurita, Mikio Fujikura, Megumi Suzuki, Kazuhiro Araki
Pazopanib, one of the antiangiogenic drugs, has recently become a first-line treatment for metastatic renal cell carcinoma. The most common adverse effects of pazopanib include diarrhea, fatigue, and nausea, but neuropathic complication has not been documented. Here, we report the first case of a patient with metastatic renal cell carcinoma who developed acute neuropathy mimicking Guillain-Barré syndrome following the first course of pazopanib therapy. A 75-year-old man with a metastatic renal cell carcinoma was admitted for rapidly progressive weakness and numbness in the extremities after the first course of pazopanib therapy...
May 12, 2017: Journal of Infection and Chemotherapy: Official Journal of the Japan Society of Chemotherapy
https://www.readbyqxmd.com/read/28506176/neurolysis-with-amniotic-membrane-nerve-wrapping-for-treatment-of-secondary-wartenberg-syndrome-a-preliminary-report
#11
Michael P Gaspar, Patrick M Kane, Michael M Vosbikian, Constantinos Ketonis, Mark S Rekant
BACKGROUND: Entrapment of the superficial sensory branch of the radial nerve (SRN) commonly results in debilitating pain of the dorsoradial wrist. Symptom relief following SRN neurolysis is often incomplete or temporary due to recurrent perineural scarring. METHODS: We performed a retrospective review with prospective follow-up of all patients with SRN neuropathy who were treated with neurolysis and nerve wrapping using an amnion-based allograft adhesion barrier over a one-year interval...
June 2017: Journal of Hand Surgery Asian-Pacific Volume
https://www.readbyqxmd.com/read/28503341/peripheral-and-central-nervous-system-involvement-in-recently-diagnosed-cases-of-hypothyroidism-an-electrophysiological-study
#12
N Gupta, M Arora, R Sharma, K S Arora
BACKGROUND: Hypothyroidism, one of the most common endocrine disorders, may induce neurological abnormalities at an early stage of the disease. AIM: The study was designed to assess the electrophysiological alterations of some selected variables of nerve conduction, brainstem auditory evoked potentials (BAEPs), and visual evoked potentials (VEPs) in hypothyroid patients. SUBJECTS AND METHODS: Sixty patients of newly diagnosed hypothyroidism and an equal number of age-matched controls were selected for the study...
September 2016: Annals of Medical and Health Sciences Research
https://www.readbyqxmd.com/read/28498055/the-intercostal-nerve-as-a-target-for-diagnostic-biopsy
#13
Khoi D Nguyen, Haroon F Choudhri, Samuel D Macomson
OBJECTIVE Peripheral nerve biopsy is a useful tool in diagnosing peripheral neuropathies. Sural and gracilis nerves have become the most common targets for nerve biopsy. However, the yield of sural nerve biopsy is limited in patients who have motor neuropathies, and gracilis nerve biopsy presents technical challenges and increased complications. The authors propose the intercostal nerve as an alternative motor nerve target for biopsy. METHODS A total of 4 patients with suspected peripheral neuropathies underwent intercostal nerve biopsy at the authors' institution...
May 12, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28495639/safety-and-tolerability-of-the-first-in-class-agent-cpi-613-in-combination-with-modified-folfirinox-in-patients-with-metastatic-pancreatic-cancer-a-single-centre-open-label-dose-escalation-phase-1-trial
#14
Angela Alistar, Bonny B Morris, Rodwige Desnoyer, Heidi D Klepin, Keyanoosh Hosseinzadeh, Clancy Clark, Amy Cameron, John Leyendecker, Ralph D'Agostino, Umit Topaloglu, Lakmal W Boteju, Asela R Boteju, Rob Shorr, Zuzana Zachar, Paul M Bingham, Tamjeed Ahmed, Sandrine Crane, Riddhishkumar Shah, John J Migliano, Timothy S Pardee, Lance Miller, Gregory Hawkins, Guangxu Jin, Wei Zhang, Boris Pasche
BACKGROUND: Pancreatic cancer statistics are dismal, with a 5-year survival of less than 10%, and more than 50% of patients presenting with metastatic disease. Metabolic reprogramming is an emerging hallmark of pancreatic adenocarcinoma. CPI-613 is a novel anticancer agent that selectively targets the altered form of mitochondrial energy metabolism in tumour cells, causing changes in mitochondrial enzyme activities and redox status that lead to apoptosis, necrosis, and autophagy of tumour cells...
May 8, 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28495047/similar-clinical-pathological-and-genetic-features-in-chinese-patients-with-autosomal-recessive-and-dominant-charcot-marie-tooth-disease-type-2k
#15
Jun Fu, Shixu Dai, Yuanyuan Lu, Rui Wu, Zhaoxia Wang, Yun Yuan, He Lv
Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause rare subtypes of Charcot-Marie-Tooth disease (CMT2K and CMT4A). CMT2K is an axonal neuropathy while CMT4A is a demyelinating type. In a series of 169 Chinese CMT patients (79 CMT1, 52 CMT2 and 38 unclassified), four unrelated patients (2.37%) were identified with GDAP1 mutations, including two with autosomal recessive CMT2K (AR-CMT2K) and two dominant CMT2K (AD-CMT2K). All patients had disease onset before 5 years of age, and presented with muscle weakness, atrophy, and mild sensory disturbance in distal limbs...
April 20, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28490654/early-skin-denervation-in-hereditary-and-iatrogenic-transthyretin-amyloid-neuropathy
#16
Teruaki Masuda, Mitsuharu Ueda, Genki Suenaga, Yohei Misumi, Masayoshi Tasaki, Ayane Izaki, Yukako Yanagisawa, Yasuteru Inoue, Hiroaki Motokawa, Sayaka Matsumoto, Mayumi Mizukami, Aiko Arimura, Takahisa Deguchi, Yoshihiko Nishio, Taro Yamashita, Yukihiro Inomata, Konen Obayashi, Yukio Ando
OBJECTIVE: To elucidate early skin denervation in hereditary transthyretin (TTR) amyloidosis and iatrogenic TTR amyloidosis. METHODS: We investigated intraepidermal nerve fiber density (IENFD) and clinical findings in 32 patients with hereditary TTR amyloidosis, 11 asymptomatic mutation carriers, 6 patients with iatrogenic TTR amyloidosis, and 23 healthy volunteers. RESULTS: IENFD values were reduced in patients with the V30M mutation (1.9 ± 2...
May 10, 2017: Neurology
https://www.readbyqxmd.com/read/28490024/a-novel-ataxic-mutant-mouse-line-having-sensory-neuropathy-shows-heavy-iron-deposition-in-kidney
#17
Hisashi Hashimoto, Tomonori Kawabe, Takahiro Fukuda, Moriaki Kusakabe
BACKGROUND/AIMS: A novel ataxic mouse line was established from the offspring of a male mouse administered cyclophosphamide in a juvenile period. METHODS: We have attempted to examine the phenotype and histopathological changes of affected mice. Furthermore, linkage analysis and sequencing of the mutant was performed to reveal the causative gene locus. RESULTS AND CONCLUSION: The affected mouse was characterized by heavy hind limb ataxia with gait disorder, which was first recognized at about 4 weeks of age and slowly progressed with advancing age...
May 11, 2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28487747/a-predictive-model-for-guillain-barr%C3%A3-syndrome-based-on-single-learning-algorithms
#18
Juana Canul-Reich, Juan Frausto-Solís, José Hernández-Torruco
Background. Guillain-Barré Syndrome (GBS) is a potentially fatal autoimmune neurological disorder. The severity varies among the four main subtypes, named as Acute Inflammatory Demyelinating Polyneuropathy (AIDP), Acute Motor Axonal Neuropathy (AMAN), Acute Motor Sensory Axonal Neuropathy (AMSAN), and Miller-Fisher Syndrome (MF). A proper subtype identification may help to promptly carry out adequate treatment in patients. Method. We perform experiments with 15 single classifiers in two scenarios: four subtypes' classification and One versus All (OvA) classification...
2017: Computational and Mathematical Methods in Medicine
https://www.readbyqxmd.com/read/28487040/immediate-postpartum-neurological-deficits-in-the-lower-extremity-a-prospective-observational-study
#19
A Richards, T McLaren, M J Paech, E A Nathan, E Beattie, N McDonnell
BACKGROUND: Neurological deficits noted immediately after childbirth are usually various obstetric neuropathies, but prospective studies are limited. The main study aim was to quantify and describe immediate postpartum neurological deficits of the lower extremity, including the buttocks. METHODS: A prospective observational study of postpartum women delivering in a single maternity hospital during three months of 2016. Among 1147 eligible women, 1019 were screened for symptoms of lower extremity numbness or weakness within eight to 32hours of delivery...
April 8, 2017: International Journal of Obstetric Anesthesia
https://www.readbyqxmd.com/read/28486769/chemotherapy-induced-peripheral-neuropathy-a-current-review
#20
REVIEW
Nathan P Staff, Anna Grisold, Wolfgang Grisold, Anthony J Windebank
Chemotherapy-induced peripheral neuropathy (CIPN) is a common dose-limiting side effect experienced by patients receiving treatment for cancer. Approximately 30-40% of patients treated with neurotoxic chemotherapy will develop CIPN and there is considerable variability in its severity between patients. It is often sensory-predominant with pain and can lead to long-term morbidity in survivors. The prevalence and burden of CIPN late effects will likely increase as cancer survival rates continue to improve. In this review, we discuss the approach to peripheral neuropathy in patients with cancer and address the clinical phenotypes and pathomechanisms of specific neurotoxic chemotherapeutic agents...
May 9, 2017: Annals of Neurology
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