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https://www.readbyqxmd.com/read/29352809/a-novel-plec-nonsense-homozygous-mutation-c-7159g%C3%A2-%C3%A2-t-p-glu2387-causes-epidermolysis-bullosa-simplex-with-muscular-dystrophy-and-diffuse-alopecia-a-case-report
#1
Zoe Argyropoulou, Lu Liu, Linda Ozoemena, Claudia C Branco, Raquel Senra, Ângela Reis-Rego, Luisa Mota-Vieira
BACKGROUND: Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disease, characterized mainly by skin blistering at birth or shortly thereafter, progressive muscle weakness, and rarely by alopecia. EBS-MD is caused by mutations in the PLEC gene (OMIM *601282), which encodes plectin, a structural protein expressed in several tissues, including epithelia and muscle. We describe a patient affected with EBS-MD and diffuse alopecia in which we identified a novel pathogenic mutation by PCR amplification of all coding exons and exon-intron boundaries of PLEC gene, followed by bidirectional Sanger sequencing...
January 20, 2018: BMC Dermatology
https://www.readbyqxmd.com/read/29351935/an-adult-case-with-shigellosis-associated-encephalopathy
#2
Heleen Joséphine Schuster, Michelle Gompelman, Wim Ang, Albertus Jozef Kooter
A 45-year-old man was presented at the emergency department with altered neurological status and a 1-day history of diarrhoea and fever. The patient's sexual history revealed multiple male partners. As bacterial meningitis or viral encephalitis was suspected, treatment was started accordingly. Cerebrospinal fluid investigations only showed a slight increase of leucocytes, and microbiological studies remained negative. Stool culture revealed Shigella flexneri, after which Shigella-associated encephalopathy was suspected...
January 18, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29350608/acute-transverse-myelitis-following-scrub-typhus-a-case-report-and-review-of-the-literature
#3
Hyun-Seung Ryu, Bong Ju Moon, Jae-Young Park, Sang-Deok Kim, Seung-Kwon Seo, Jung-Kil Lee
Context Scrub typhus is an acute febrile disease caused by Orientia tsutsugamushi. The disease can usually involve the lungs, heart, liver, spleen and brain through hematogenous dissemination. However, very rarely, acute transverse myelitis in the spinal cord develops from scrub typhus. We present a case of acute transverse myelitis following scrub typhus with a review of the literature. Findings A 66-year-old male visited a hospital for general myalgia, mild headache, and fever in October. He was noted to have thick, black papule skin on his abdomen, which was highly suggestive of scrub typhus...
January 19, 2018: Journal of Spinal Cord Medicine
https://www.readbyqxmd.com/read/29350375/neurological-recovery-after-traumatic-cauda-equina-syndrome-due-to-glass-fragments-an-unusual-case
#4
Mehmet Şenoğlu, Ali Karadağ, Çağlar Türk, Füsun Demirçivi Özer
Penetrating spinal injuries with foreign bodies are exceedingly rare. To date, pathological problems due to glass fragments in the spinal canal have rarely been reported. In this report, the case presenting with a back laceration, leg pain, and leg weakness was found to have glass frag-ments in the spinal canal at the L2-L3 level by lumbar computed tomography and magnetic resonance imaging. After L2 total laminectomy and retrieval of the glass fragments, the dura was re-paired. The patient was discharged from the hospital after complete neurological recovery...
January 2018: Ulusal Travma Ve Acil Cerrahi Dergisi, Turkish Journal of Trauma & Emergency Surgery: TJTES
https://www.readbyqxmd.com/read/29349679/autoimmune-encephalitis-associated-with-glutamic-acid-decarboxylase-antibodies-a-case-series
#5
Faruk Incecik, Ozlem M Herguner, Seyda Besen, Mustafa Yılmaz
Antibodies against glutamic acid decarboxylase (GAD) are associated with various neurologic conditions described in patients including stiff person syndrome, cerebellar ataxia, refractory epilepsy, limbic and extralimbic encephalitis. GAD antibodies-related limbic encephalitis cases are well described; reports of extralimbic involvement are limited. We describe four cases of GAD antibody-related autoimmune encephalitis. Three of them had extralimbic involvement and only one had limbic encephalitis.
January 18, 2018: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/29348993/delayed-presentation-of-cerebral-air-embolism-from-a-left-atrial-esophageal-fistula-a-case-report-and-review-of-the-literature
#6
Catherine Peterson, Clay Elswick, Vicki Diaz, R Shane Tubbs, Marc Moisi
Air embolism developing from an atrial-esophageal fistula that was created as a complication from an atrial ablation procedure is a rare, yet usually fatal diagnosis. Neurologic manifestations such as meningitis, altered mental status, seizures, strokes, transient ischemic attacks (TIAs), psychiatric changes, and coma can ensue. Imaging of the brain might reveal infarcts, cerebral edema, as well as signs of pneumocephalus. This case describes a 42-year-old male with recent cardiac ablation procedure at an outside hospital for refractory atrial fibrillation (A-fib) who presented with altered mental status, dyspnea and diaphoresis...
November 15, 2017: Curēus
https://www.readbyqxmd.com/read/29348385/a-rare-case-series-of-ischemic-stroke-following-russell-s-viper-snake-bite-in-india
#7
Venkata Krishna Pothukuchi, Alok Kumar, Chennamsetty Teja, Archana Verma
Snakebite is an important medical problem in India. Among their various manifestations, cerebral complications are uncommonly found in literature. Moreover, Ischemic stroke following snake bite is quite rare. Here we report a case series of two such cases that developed neurological manifestations following Russell's viper bite. On computerized tomography (CT) scan of brain; cerebral infarcts were revealed. Their likely mechanisms are discussed in present study which include disseminated intravascular coagulation, toxin induced vasculitis and endothelial damage...
October 2017: Acta Medica Indonesiana
https://www.readbyqxmd.com/read/29347913/an-unusual-case-of-infective-pneumocephalus-case-report-of-pneumocephalus-exacerbated-by-continuous-positive-airway-pressure
#8
Abdus Samad Ansari, Brittany B Dennis, Dilip Shah, Winfred Baah
BACKGROUND: Pneumocephalus, illustrated by air in the cranial vault is relatively infrequent and generally associated with neurosurgery, trauma, meningitis and barotrauma. However cases of spontaneous non-traumatic pneumocephalus remain rare. While the relationship between continuous positive airway pressure (CPAP) and atraumatic pneumocephalus has been previously reported, to our knowledge the rare presentation associated with sinus wall osteomyelitis has never been described. We summarize here the case of a 67-year-old woman's acute presentation of Streptococcus salvarius infection after a sudden drop in her consciousness...
January 18, 2018: BMC Emergency Medicine
https://www.readbyqxmd.com/read/29347856/systematic-review-of-injuries-in-mixed-martial-arts
#9
Roger E Thomas, Bennett C Thomas
OBJECTIVES: To assess injury rates in all mixed martial arts (MMA) studies. METHODS: Six online databases were searched until November 2017 including MEDLINE, EMBASE, CINAHL, Web of Science, PubMed, Google/Google Scholar and conference proceedings. All included studies were entered in Pub Med Single Citation Matcher and all citation chains followed. Abstracts and titles were assessed for relevance, data independently abstracted and risk of bias for all competition studies evaluated independently by two reviewers...
January 19, 2018: Physician and Sportsmedicine
https://www.readbyqxmd.com/read/29346829/intraoperative-seizures-in-awake-craniotomy-for-perirolandic-glioma-resections-that-undergo-cortical-mapping
#10
Chikezie Ikechukwu Eseonu, Jordina Rincon-Torroella, Young M Lee, Karim ReFaey, Punita Tripathi, Alfredo Quinones-Hinojosa
BACKGROUND:  Perirolandic motor area gliomas present invasive eloquent region tumors within the precentral gyrus that are difficult to resect without causing neurologic deficits. STUDY AIMS:  This study evaluates the role of awake craniotomy and motor mapping on neurologic outcome and extent of resection (EOR) of tumor in the perirolandic motor region. It also analyzes preoperative risk factors for intraoperative seizures. METHODS:  We evaluated 57 patients who underwent an awake craniotomy for a perirolandic motor area eloquent region glioma...
January 18, 2018: Journal of Neurological Surgery. Part A, Central European Neurosurgery
https://www.readbyqxmd.com/read/29346236/a-teenager-with-acute-anterograde-amnesia
#11
Jennifer A Hoffmann, Michael P Goldman, Richard G Bachur
Isolated amnesia is an uncommon presenting complaint in the pediatric age group. We report the case of an 18-year-old woman who presented with the acute onset of memory difficulty and an otherwise normal neurologic examination. Brain magnetic resonance imaging demonstrated inflammation in the bilateral temporal lobes. Serum and cerebrospinal fluid testing ultimately revealed a diagnosis of autoimmune encephalitis. Although rare, the acute onset of isolated amnesia deserves a prompt, comprehensive evaluation...
January 16, 2018: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29345598/dolutegravir-related-neurological-adverse-events-a-case-report-of-successful-management-with-therapeutic-drug-monitoring
#12
Francois Parant, Patrick Miailhes, Florence Brunel, Marie-Claude Gagnieu
Dolutegravir (DTG), a highly effective second-generation HIV integrase inhibitor with high genetic barrier to resistance, has shown excellent tolerability and safety profiles in clinical trials. However, some patients may experience neurological or psychiatric adverse effects leading to DTG discontinuation. This report describes a case of 29-year-old woman who developed neurological adverse events after starting the DTG-based antiretroviral therapy. Serum DTG concentrations were supra-therapeutic which has required a dosing interval adjustment...
January 16, 2018: Current Drug Safety
https://www.readbyqxmd.com/read/29344770/sub-inner-limiting-membrane-hemorrhage-in-a-patient-with-terson-syndrome
#13
M Munteanu, C Rosca, H Stanca
PURPOSE: To report a case of bilateral Terson Syndrome with sub inner limiting membrane hemorrhage associated with a rare finding: perimacular fold. METHODS: The patient, a 34 years old female with aneurysmal subarachnoid hemorrhage and bilateral Terson syndrome was admitted to the Ophthalmology department, complaining of blurred vision. Core vitrectomy, hyaloid detachment, peeling of the ILM and aspiration of the sub inner limiting membrane hemorrhage was performed...
January 17, 2018: International Ophthalmology
https://www.readbyqxmd.com/read/29344472/status-epilepticus-as-an-unusual-manifestation-of-heat-stroke
#14
Won Gu Lee, So-Young Huh, Jin-Hyung Lee, Bong Goo Yoo, Meyung Kug Kim
Heat stroke (HS) is a medical emergency and life threatening condition, characterized by body temperature over 40°C. This can lead to dysfunction of multiple organs such as the heart, liver, kidneys, lungs, blood coagulation system, and central nervous system. Neurological complications include change in consciousness, cerebellar dysfunction, convulsions, aphasia, muscular weakness, and parkinsonism. Cerebellar syndrome is the most common neurological finding in HS. We report a case of HS presenting with status epilepticus, without any other neurological manifestations...
December 2017: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/29344071/acetazolamide-a-new-treatment-for-visual-vertigo
#15
Ilya M Sluch, Michael S Elliott, Justin Dvorak, Kai Ding, Bradley K Farris
Visual vertigo is a disorder characterised by symptoms of dizziness, vertigo, unsteadiness, disorientation, and general discomfort induced by visual triggers. It is currently treated with vestibular rehabilitation therapy, with no effective pharmacotherapy available for treatment-resistant cases. The objective of this study was to evaluate the efficacy of oral acetazolamide in improving symptoms of visual vertigo. A comparative case series of adult patients clinically diagnosed with visual vertigo was conducted from January 1992 to May 2015...
December 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/29343679/ramsay-hunt-syndrome-with-multiple-cranial-neuropathy-in-an-human-immunodeficiency-virus-hiv-patient
#16
Divya Arya, Tushar Bajaj, Jose Gonzalez, Rene Elkin
BACKGROUND Ramsay Hunt syndrome is a rare otologic complication resulting from varicella zoster virus reactivation that can present with a myriad of clinical presentations. Most common being triad of ear pain, vesicles at auricle, and ear canal with same side facial palsy. CASE REPORT We report a case of a 29-year-old male with a human immunodeficiency virus (HIV) infection who presented with left facial palsy, vesicles, pain in the left ear, dysphagia, dizziness, and headache resulting from multiple cranial nerves involvement such as cranial nerve V, VII, VIII, IX, and X...
January 18, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29341025/multiple-sclerosis-prevalence-and-impact
#17
Heather Gilmour, Pamela L Ramage-Morin, Suzy L Wong
This article provides new information about multiple sclerosis (MS) using the 2010/2011 Neurological Conditions Prevalence File, the 2011/2012 Survey of Neurological Conditions in Institutions in Canada, and the 2011 Survey on Living with Neurological Conditions in Canada. An estimated 93,500 Canadians living in private households and 3,800 residents of long-term care institutions had been diagnosed with MS. Prevalence estimates were 159 and 418 cases per 100,000 population for men and women, respectively; 2...
January 17, 2018: Health Reports
https://www.readbyqxmd.com/read/29340123/multiple-extramedullary-plasmacytoma-in-a-setting-of-complete-bone-marrow-remission-food-for-thought
#18
Negi Preety, Kingsley Pamela Alice, Jomi Chinnu, Mathew Amrith, George Sneha, Immanuel Vivek, Abraham Puliyelil Abraham
Extramedullary plasmacytoma as a mode of relapse in multiple myeloma (MM) is unusual. Current recommendations do not incorporate the routine use of 18-fluorodeoxyglucose positron emission tomography-computed tomography (FDG PET/CT) imaging prior to haematopoietic stem cell transplant (HSCT) in MM. We report a case of relapsed MM with complete remission as per IMWG criteria. In the interim period, before the HSCT, the patient had localizing neurological signs and symptoms attributed to multiple extramedullary plasmacytomas...
October 1, 2017: International Journal of Hematology-oncology and Stem Cell Research
https://www.readbyqxmd.com/read/29339765/mutations-in-bassoon-in-individuals-with-familial-and-sporadic-progressive-supranuclear-palsy-like-syndrome
#19
Ichiro Yabe, Hiroaki Yaguchi, Yasutaka Kato, Yasuo Miki, Hidehisa Takahashi, Satoshi Tanikawa, Shinichi Shirai, Ikuko Takahashi, Mari Kimura, Yuka Hama, Masaaki Matsushima, Shinsuke Fujioka, Takahiro Kano, Masashi Watanabe, Shin Nakagawa, Yasuyuki Kunieda, Yoshio Ikeda, Masato Hasegawa, Hiroshi Nishihara, Toshihisa Ohtsuka, Shinya Tanaka, Yoshio Tsuboi, Shigetsugu Hatakeyama, Koichi Wakabayashi, Hidenao Sasaki
Clinical diagnosis of progressive supranuclear palsy (PSP) is sometimes difficult because various phenotypes have been identified. Here, we report a mutation in the bassoon (BSN) gene in a family with PSP-like syndrome. Their clinical features resembled not only those of PSP patients but also those of individuals with multiple system atrophy and Alzheimer's disease. The neuropathological findings showed a novel three + four repeat tauopathy with pallido-luysio-nigral degeneration and hippocampal sclerosis...
January 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29338107/how-often-is-the-diagnosis-of-the-permanent-vegetative-state-incorrect-a-review-of-the-evidence
#20
Derick T Wade
BACKGROUND: Some research suggests that 40% of people in the vegetative state are misdiagnosed. This review investigates the frequency, nature and causes of reported misdiagnosis of patients in the vegetative state, focusing on the nature of the error. METHOD: A systematic review of all relevant literature, using references from key papers identified. Data summarised in tables. RESULTS: Five clinical studies of rate of misdiagnosis in practice were identified, encompassing 236 patients in the vegetative state of whom 80 (34%) were reclassified has having some awareness, often minimal...
January 16, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
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