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episodic weakness syndrome

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https://www.readbyqxmd.com/read/29792178/anti-ganglioside-complex-antibody-profiles-in-a-recurrent-complicated-case-of-gq1b-seronegative-miller-fisher-syndrome-and-bickerstaff-brainstem-encephalitis-a-case-report
#1
Hiroto Ito, Yuki Hatanaka, Yuki Fukami, Yumiko Harada, Rei Kobayashi, Hisashi Okada, Ayumi Uchibori, Atsuro Chiba, Satoshi Okuda
BACKGROUND: Guillain-Barré syndrome (GBS), Miller Fisher syndrome (MFS) and Bickerstaff brainstem encephalitis (BBE) are a group of autoimmune neurological disorders (GBS spectrum disorder) that rarely recur. Recently, anti-ganglioside complex antibodies (GSC-Abs) were identified in patients with GBS spectrum disorder. However, there has been no case report describing GSC-Abs profiles in a recurrent case showing different phenotypes. CASE PRESENTATION: We report the case of a 33-year-old male patient with GQ1b-seronegative BBE-GBS after two prior episodes of MFS-GBS...
May 23, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29774303/myotonia-permanens-with-nav1-4-g1306e-displays-varied-phenotypes-during-course-of-life
#2
Frank Lehmann-Horn, Adele D'Amico, Enrico Bertini, Mauro Lomonaco, Luciano Merlini, Kevin R Nelson, Heike Philippi, Gabriele Siciliano, Frank Spaans, Karin Jurkat-Rott
Introduction: Myotonia permanens due to Nav1.4-G1306E is a rare sodium channelopathy with potentially life-threatening respiratory complications. Our goal was to study phenotypic variability throughout life. Methods: Clinical neurophysiology and genetic analysis were performed. Using existing functional expression data we determined the sodium window by integration. Results: In 10 unrelated patients who were believed to have epilepsy, respiratory disease or Schwartz-Jampel syndrome, we made the same prima facie diagnosis and detected the same heterologous Nav1...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29642533/rhabdomyolysis-in-a-young-girl-with-van-wyk-grumbach-syndrome-due-to-severe-hashimoto-thyroiditis
#3
Alberto Leonardi, Laura Penta, Marta Cofini, Lucia Lanciotti, Nicola Principi, Susanna Esposito
Background: Autoimmune hypothyroidism (Hashimoto thyroiditis; HT) is the most common postnatal thyroid disease. Clinical manifestations of HT vary according to disease severity. Due to the pleiotropic effects of thyroid hormone, less common signs and symptoms of HT can occur, leading to a delay in diagnosis. Case presentation: A 9-year-old girl of Indian origin was admitted for a one-week history of widespread myalgia, fatigue, muscle weakness, difficulty walking, and a significant increase in weight (approximately 2 kg) without any changes in daily habits...
April 9, 2018: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29525234/syndrome-of-inappropriate-antidiuretic-hormone-secretion-in-a-mini-breed-puppy-associated-with-aspiration-pneumonia
#4
Rocío Martínez, Carlos Torrente
A 3-month-old intact male Prague ratter was presented to the emergency service for evaluation of progressive lethargy, weakness, coughing and labour breathing after an episode of resistance to oral deworming. The patient exhibited depression, increased respiratory effort and cyanosis at initial presentation. Results of first diagnostic work-up (complete blood cell count, biochemistry panel and thoracic x-rays) were all consistent with aspiration pneumonia. The puppy was initially treated with balanced isotonic crystalloids, broad spectrum antibiotics, nebulization with thoracic coupage and was transferred to an infant incubator with a sustained FiO2 of 40-50%...
December 2017: Topics in Companion Animal Medicine
https://www.readbyqxmd.com/read/29518833/-clinical-and-genetic-characteristics-of-congenital-myasthenia-syndrome-with-episodic-apnea-caused-by-chat-gene-mutation-a-report-of-2-cases
#5
Z M Liu, F Fang, C H Ding, W H Zhang, J Deng, C H Chen, X Wang, J Liu, Z Li, X L Jia, J S Zeng, S Y Qian
Objective: To investigate the clinical and genetic features of congenital myasthenia syndrome with episodic apnea (CMS-EA) caused by gene mutation of choline acetyltransferase (CHAT) Methods: The clinical data of 2 patients with congenital myasthenia syndrome were collected, and both were diagnosed from 2013 to 2015 in Beijing Children's Hospital, Capital Medical University. The clinical features and gene mutation characteristics were analyzed, and the patients were followed-up for therapeutic efficacy. Results: The two patients (case 1 and case 2) had the onset soon after birth and at 3 months after birth respectively...
March 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29391077/cerebral-manifestations-of-mitochondrial-disorders
#6
Josef Finsterer, Elmano Henrique Torres de Carvalho
This review aims at summarizing and discussing previous and recent findings concerning the cerebral manifestations of mitochondrial disorders (MIDs). MIDs frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) either already at onset or later in the course. After the muscle, the brain is the organ second most frequently affected in MIMODS. Cerebral manifestations of MIDs are variable and may present with or without a lesion on imaging or functional studies, but there can be imaging/functional lesions without clinical manifestations...
November 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/29357816/guillain-barre-syndrome-caused-by-hepatitis-e-infection-case-report-and-literature-review
#7
Xiaoqin Zheng, Liang Yu, Qiaomai Xu, Silan Gu, Lingling Tang
BACKGROUND: Hepatitis E infection is a global disorder that causes substantial morbidity. Numerous neurologic illnesses, including Guillain-Barre syndrome (GBS), have occurred in patients with hepatitis E virus (HEV) infection. CASE PRESENTATION: We report a 58 year-old non-immunocompromised man who presented with progressive muscle weakness in all extremities during an episode of acute HEV infection, which was confirmed by measuring the anti-HEV IgM antibodies in the serum...
January 23, 2018: BMC Infectious Diseases
https://www.readbyqxmd.com/read/29318796/recurrent-guillain-barr%C3%A3-syndrome-following-urinary-tract-infection-by-escherichia-coli
#8
Yoon Sik Jo, Jin Yong Choi, Hong Chung, Yuseok Kim, Sang Jun Na
Recurrent Guillain-Barré syndrome (GBS) is a rare, immune-mediated disease of the peripheral nervous system. It has been reported to occur at intervals ranging from four months to 10 years; published case studies suggest that 1%-6% of patients who have had GBS will experience recurrent attacks. The most commonly identified infections coinciding with GBS are Campylobacter jejuni, Haemophilus influenzae, Mycoplasma pneumonia, and cytomegalovirus, while an antecedent infection with Escherichia coli is very uncommon...
January 22, 2018: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/29135611/18f-fdg-pet-ct-of-generalized-arteritis
#9
Anna Margherita Maffione, Lucia Rampin, Gaia Grassetto, Maria Cristina Marzola, Sotirios Chondrogiannis, Domenico Rubello, Patrick M Colletti
A 75-year-old man presented with significant weight loss, persistent cough, single episode of frontotemporal pulsatile headache, and leg weakness. A paraneoplastic syndrome was suspected, and F-FDG PET/CT was performed. Diffuse, moderate-to-intense tracer symmetrical uptake of many large and medium arteries was unexpectedly noted. The peculiarity of this case is the extensive involvement of both large and medium head and neck and extremity vessels, whereas the aorta was relatively spared.
January 2018: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/29125635/review-of-the-diagnosis-and-treatment-of-periodic-paralysis
#10
REVIEW
Jeffrey M Statland, Bertrand Fontaine, Michael G Hanna, Nicholas E Johnson, John T Kissel, Valeria A Sansone, Perry B Shieh, Rabi N Tawil, Jaya Trivedi, Stephen C Cannon, Robert C Griggs
Periodic paralyses (PPs) are rare neuromuscular disorders caused by mutations in skeletal muscle sodium, calcium, and potassium channel genes. PPs include hypokalemic paralysis, hyperkalemic paralysis, and Andersen-Tawil syndrome. Common features of PP include autosomal dominant inheritance, onset typically in the first or second decades, episodic attacks of flaccid weakness, which are often triggered by diet or rest after exercise. Diagnosis is based on the characteristic clinic presentation then confirmed by genetic testing...
April 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29101272/illness-associated-muscle-weakness-in-dystroglycanopathies
#11
Courtney R Carlson, Steven D McGaughey, Jamie M Eskuri, Carrie M Stephan, M Bridget Zimmerman, Katherine D Mathews
OBJECTIVE: To describe the phenomenon of acute illness-associated weakness (AIAW) in patients with dystroglycanopathy (DG), determine the frequency of this phenomenon in DGs, and compare it to the frequency in Duchenne-Becker muscular dystrophy (DBMD). METHODS: Patients enrolled in a DG natural history study provided medical history, including major illnesses or hospitalizations, at enrollment and annually. We noted a recurring syndrome of profound transient weakness in the setting of febrile illness...
December 5, 2017: Neurology
https://www.readbyqxmd.com/read/29079320/cognitive-dysfunction-associated-with-aluminum-hydroxide-induced-macrophagic-myofasciitis-a-reappraisal-of-neuropsychological-profile
#12
Mehdi Aoun Sebaiti, Paul Kauv, Anaïs Charles-Nelson, Axel Van Der Gucht, Paul Blanc-Durand, Emmanuel Itti, Romain K Gherardi, Anne-Catherine Bachoud-Levi, François Jérôme Authier
Patients with macrophagic myofasciitis (MMF) present with diffuse arthromyalgias, chronic fatigue, and cognitive disorder. Representative features of MMF-associated cognitive dysfunction include attentional dysfunction, dysexecutive syndrome, visual memory deficit and left ear extinction. Our study aims to reevaluate the neuropsychological profile of MMF. 105 unselected consecutive MMF patients were subjected to a neuropsychological battery of screen short term and long-term memory, executive functions, attentional abilities, instrumental functions and dichotic listening...
April 2018: Journal of Inorganic Biochemistry
https://www.readbyqxmd.com/read/29066118/a-de-novo-p-arg756cys-mutation-in-atp1a3-causes-a-distinct-phenotype-with-prolonged-weakness-and-encephalopathy-triggered-by-fever
#13
Yuji Nakamura, Ayako Hattori, Mitsuko Nakashima, Daisuke Ieda, Ikumi Hori, Yutaka Negishi, Naoki Ando, Naomichi Matsumoto, Shinji Saitoh
Patients with a mutation at Arg756 in ATP1A3 have been known to exhibit a distinct phenotype, characterized by prolonged weakness and encephalopathy, triggered by febrile illness. With only eight reports published to date, more evidence is required to correlate clinical features with a mutation at Arg756. Here we report an additional case with an Arg756Cys mutation in ATP1A3. A four-year-old boy showed mild developmental delay with recurrent paroxysmal episodes of weakness and encephalopathy from nine months of age...
March 2018: Brain & Development
https://www.readbyqxmd.com/read/29036585/ambulatory-ph-impedance-pressure-monitoring-as-a-diagnostic-tool-for-the-reflux-cough-syndrome
#14
T V K Herregods, A Pauwels, J Jafari, D Sifrim, A J P M Smout, A J Bredenoord, J Tack
Gastroesophageal reflux is considered to be a significant contributing factor to chronic unexplained cough. Patients are often presumed to have reflux-induced cough and are exposed to high-dose and long-term empirical therapy with proton pump inhibitors (PPIs) despite the limited treatment efficacy in this population. We aimed to assess the diagnostic value of 24-hour ambulatory pH-impedance-pressure monitoring for the diagnosis of reflux-induced chronic cough. In this multicenter study, we evaluated 192 patients with chronic cough using 24-hour pH-impedance-pressure monitoring off PPIs...
January 1, 2018: Diseases of the Esophagus: Official Journal of the International Society for Diseases of the Esophagus
https://www.readbyqxmd.com/read/28978604/oxaliplatin-induced-posterior-reversible-encephalopathy-syndrome-pres
#15
Taimoor Khalid Janjua, Muhammad Hassan, Hira Khan Afridi, Naila Anjum Zahid
Posterior reversible encephalopathy syndrome (PRES), first introduced in 1996, is a neurotoxic state characterised by seizures, headache, vision change, paresis, nausea and altered mental status. Risk factors include hypertension, eclampsia/pre-eclampsia, infection/sepsis and cancer chemotherapy. Although exposure to toxic agents is a common occurrence in patients who develop PRES, oxaliplatin has rarely been associated with it, with only 10 cases reported worldwide. We present the case of an oxaliplatin-induced PRES in a 23-year-old male patient who was started on oxaliplatin/capecitabine as adjuvant chemotherapy for anal canal adenocarcinoma...
October 4, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28923622/enzyme-linked-immunospot-assay-as-a-complementary-method-to-assess-and-monitor-cytomegalovirus-infection-in-kidney-transplant-recipients-on-pre-emptive-antiviral-therapy-a-single-center-experience
#16
E Favi, R Santangelo, S Iesari, M Morandi, G E Marcovecchio, E M Trecarichi, M P Salerno, M Ferraresso, F Citterio, J Romagnoli
BACKGROUND: Cytomegalovirus (CMV) disease represents a major cause of post-transplantation morbidity and mortality. To estimate the risk of infection and monitor response to antiviral therapy, current guidelines suggest combination of viral load monitoring with direct assessment of CMV-specific immune response. We used enzyme-linked immunospot (ELISpot) for the evaluation of CMV-specific T-cell response in kidney transplant recipients with CMV viremia and investigated how information gained could help manage CMV infection...
October 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28884231/infant-brachial-neuritis-following-a-viral-prodrome-a-case-in-a-6-month-old-child-and-review-of-the-literature
#17
Oliver D Mrowczynski, Sara T Langan, Elias B Rizk
INTRODUCTION: Brachial neuritis, commonly known as Parsonage-Turner syndrome, affects two to three people per 100,000 and presents with pain and weakness of the arm and shoulder. Brachial neuritis is uncommon in infants. METHODS: Here, we present the case of a 6-month old female, who presented with right upper extremity weakness and paresis following a viral prodrome. We also present a summary of all reported cases of brachial neuritis in infants. RESULTS: This is the youngest case of brachial neuritis diagnosed at our institution...
January 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28821360/development-and-implementation-of-an-early-mobility-program-for-mechanically-ventilated-pediatric-patients
#18
Kristina A Betters, Kiran B Hebbar, David Farthing, Brittany Griego, Tricia Easley, Hartley Turman, Lauren Perrino, Stephanie Sparacino, Mary L deAlmeida
PURPOSE: Early mobility (EM) is being used in adult ICUs in an effort to treat and prevent intensive care unit acquired weakness (ICU-AW) and Post-Intensive Care Syndrome (PICS). Data supports children suffer from ICU-AW and PICS as well. Our objective was to create and implement an EM protocol for pediatric patients receiving invasive mechanical ventilation. METHODS: A multidisciplinary EM committee was formed to create and implement an EM protocol in a quarternary care PICU...
October 2017: Journal of Critical Care
https://www.readbyqxmd.com/read/28801329/postcardiac-injury-syndrome-and-stroke-following-permanent-pacemaker-insertion
#19
Caitlin Bialy, Edmund Wee, Nizam Uddin
An 80-year-old woman initially presented with an episode of pleuritic chest pain 10 days after implantation of a dual chamber permanent pacemaker. She returned to hospital a day later with vomiting and fever. She was found to have new atrial fibrillation in addition to right-sided weakness and dysarthria. An infarct in the left anterior inferior cerebellar artery territory was later confirmed on CT. She continued to have recurrent febrile episodes associated with vomiting and dyspnoea. Extensive investigations for infection were negative, and her symptoms were initially attributed to aspiration pneumonia...
August 11, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28671000/brain-derived-neurotrophic-factor-serum-and-plasma-levels-in-the-treatment-of-acute-schizophrenia-with-olanzapine-or-risperidone-6-week-prospective-study
#20
Suzan Kudlek Mikulic, Alma Mihaljevic-Peles, Marina Sagud, Maja Bajs Janovic, Lana Ganoci, Jasmina Grubisin, Martina Kuzman Rojnic, Bjanka Vuksan Cusa, Zoran Bradaš, Nada Božina
Antipsychotics have been the mainstay of the treatment of schizophrenia, and their potential role in neuroprotection could be related to brain-derived neurotrophic factor (BDNF). So far different effects on both serum and plasma levels of BDNF were reported related to the various antipsychotic treatments. Aim of this study was to investigate the influence of olanzapine or risperidone on both plasma and serum levels of BDNF in patients with acute schizophrenia. For 50 participants with acute episode of schizophrenia both plasma and serum BDNF, along with the Positive and Negative Syndrome Scale (PANSS) and the Clinical Global Impression scale, were assessed pretreatment and post treatment - after 6 weeks of either risperidone or olanzapine...
July 2, 2017: Nordic Journal of Psychiatry
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