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https://www.readbyqxmd.com/read/28641283/-healing-of-amyotrophic-lateral-sclerosis-a-case-report
#1
Inge Mangelsdorf, Harald Walach, Joachim Mutter
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a devastating disease leading to death within 3-5 years in most cases. New approaches to treating this disease are needed. Here, we report a successful therapy. CASE REPORT: In a 49-year-old male patient suffering from muscle weakness and fasciculations, progressive muscular atrophy, a variant of ALS, was diagnosed after extensive examinations ruling out other diseases. Due to supposed mercury exposure from residual amalgam, the patient's teeth were restored...
2017: Complementary Medicine Research
https://www.readbyqxmd.com/read/28597677/endoscopic-management-of-afferent-loop-syndrome-caused-by-enteroliths-and-anastomotic-stricture-a-case-report
#2
Ana Rita Alves, Nuno Almeida, Margarida Ferreira, Luís Tomé
Afferent loop syndrome (ALS) is a rare complication of Billroth-II gastrojejunostomy. Causes of afferent loop obstruction include adhesions, internal hernias, intestinal strictures or malignancy. Obstruction caused by enteroliths is rare and usually requires surgery. We present the case of a 90-year-old man with a Billroth-II performed 50 years earlier and three acute pancreatitis. He presented with acute abdominal pain, without signs of pancreatitis. Upper digestive endoscopy revealed a punctiform anastomotic stricture of the afferent loop...
June 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28588549/amyotrophic-lateral-sclerosis-and-myasthenia-gravis-overlap-syndrome-a-review-of-two-cases-and-the-associated-literature
#3
Hongfei Tai, Liying Cui, Yuzhou Guan, Mingsheng Liu, Xiaoguang Li, Yan Huang, Jing Yuan, Dongchao Shen, Dawei Li, Feifei Zhai
OBJECTIVE: To describe the characteristics of patients with amyotrophic lateral sclerosis (ALS) and myasthenia gravis (MG) overlap syndrome and explore the relationship between the two diseases. METHODS: We conducted a search of medical records at Peking Union Medical University Hospital from 1983 to 2015 for coexistence of ALS and MG and searched the PubMed database for all literature describing ALS and MG overlap syndrome published through December 2016. We analyzed the clinical and neurophysiological characteristics of patients by groups according to strict diagnostic criteria...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28522369/electroencephalographic-monitoring-during-sevoflurane-anaesthesia-in-an-amyotrophic-lateral-sclerosis-patient-with-locked-in-state
#4
Kazuko Hayashi, Ryuhei Araki, Akiko Tanaka
Recently, the cognitive abilities of patients with amyotrophic lateral sclerosis (ALS) have been found to be impaired along with the neurodegeneration of motor neurons. Electroencephalography (EEG) of end-stage ALS patients has reportedly shown specific features based on neuronal network modulations, differing from EEG of other patients with cognitive failure and dementia. However, EEG of end-stage ALS patients during anaesthesia has not yet been reported. A 64-year-old male ALS patient with locked-in state (LIS), supported by tracheostomy positive-pressure ventilation (TPPV) and enteral nourishment for 9years, underwent scheduled general anaesthesia for repair of a fractured mandible...
May 15, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28445628/characterization-of-four-latin-american-families-confirms-previous-findings-and-reveals-novel-features-of-acid-labile-subunit-als-deficiency
#5
Paula A Scaglia, Ana C Keselman, Débora Braslavsky, Lucía C Martucci, Liliana M Karabatas, Sabina Domené, Mariana L Gutiérrez, María G Ballerini, María G Ropelato, Angela Spinola-Castro, Adriana A Siviero-Miachon, Juliana Saito Tartuci, Sol Rodríguez Azrak, Rodolfo A Rey, Héctor G Jasper, Ignacio Bergadá, Horacio M Domené
OBJECTIVE: ALS deficiency (ACLSD), caused by inactivating mutations in both IGFALS gene alleles, is characterized by marked reduction of IGF-I and IGFBP-3 levels associated to mild growth retardation. The aim of this study was to expand the known phenotype and genetic characteristics of ACLSD by reporting data from four index cases and their families. DESIGN: Auxological data, biochemical and genetic studies were performed in four children diagnosed with ACLSD and all available relatives...
April 26, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28444311/expression-of-als-ftd-linked-mutant-ccnf-in-zebrafish-leads-to-increased-cell-death-in-the-spinal-cord-and-an-aberrant-motor-phenotype
#6
Alison L Hogan, Emily K Don, Stephanie L Rayner, Albert Lee, Angela S Laird, Maxinne Watchon, Claire Winnick, Ingrid S Tarr, Marco Morsch, Jennifer A Fifita, Serene Gwee, Isabel Formella, Elinor Hortle, Kristy Yuan, Mark P Molloy, Kelly L Williams, Garth A Nicholson, Roger S Chung, Ian P Blair, Nicholas J Cole
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, fatal neurodegenerative disease characterised by the death of upper and lower motor neurons. Approximately 10% of cases have a known family history of ALS and disease-linked mutations in multiple genes have been identified. ALS-linked mutations in CCNF were recently reported, however the pathogenic mechanisms associated with these mutations are yet to be established. To investigate possible disease mechanisms, we developed in vitro and in vivo models based on an ALS-linked missense mutation in CCNF...
April 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28443187/treatment-with-penicillin-g-and-hydrocortisone-reduces-als-associated-symptoms-a-case-series-of-three-patients
#7
Bert Tuk, Harmen Jousma, Pieter J Gaillard
Three male Caucasian patients with ALS were admitted to the hospital due to progressive dysphagia and dysarthria. During two 21-day courses of penicillin G and hydrocortisone, these patients' dysphagia and dysarthria resolved. The patient's other ALS-associated symptoms also improved, including respiratory function, coordination, walking, and muscle strength. This is the first report of a treatment with a protocol for treating dysphagia, dysarthria, respiratory depression and other ALS-related symptoms. Furthermore, the observations are consistent with the recent hypothesis that the successful treatment of ALS symptoms with this treatment course in six patients with syphilitic ALS was not directly due to the treatment of syphilis; but that the administered penicillin G and/or hydrocortisone treated these patients' ALS symptoms due the off-target pharmacological activity of penicillin G and/or hydrocortisone...
2017: F1000Research
https://www.readbyqxmd.com/read/28426258/improvements-in-out-of-hospital-cardiac-arrest-survival-from-1998-to-2013
#8
Yutaka Yamaguchi, Jeff A Woodin, Koichiro Gibo, Dana M Zive, Mohamud R Daya
OBJECTIVES: Out-of-hospital cardiac arrest (OHCA) remains a major public health burden. Aggregate OHCA survival to hospital discharge has reportedly remained unchanged at 7.6% for almost 30 years from 1970 to 2008. We examined the trends in adult OHCA survival over a 16-year period from 1998 to 2013 within a single EMS agency. METHODS: Observational cohort study of adult OHCA patients treated by Tualatin Valley Fire & Rescue (TVF&R) from 1998 to 2013. This is an ALS first response fire agency that maintains an active Utstein style cardiac arrest registry and serves a population of approximately 450,000 in 9 incorporated cities in Oregon...
April 20, 2017: Prehospital Emergency Care
https://www.readbyqxmd.com/read/28421301/multiple-sclerosis-and-amyotrophic-lateral-sclerosis-a-human-leukocyte-antigen-challenge
#9
Vincenzo Dattola, Fausto Famà, Margherita Russo, Rocco Salvatore Calabrò, Anna Lisa Logiudice, Maria Grazia Grasso, Francesco Patti, Maria Buccafusca
Multiple sclerosis (MS) and amyotrophic lateral sclerosis (ALS) are two different central nervous system pathology that, according to the most accredited hypotheses, recognize a different etiopathogenesis. The simultaneous occurrence of MS and ALS is quite unusual. To our knowledge, only three cases have been so far described by clinical, laboratory, and post-mortem studies. We report four new cases of this peculiar combination that have been observed and are herein described, included their human leukocyte antigen (HLA) profile studies...
April 18, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28414559/evaluating-the-cost-and-utility-of-mandating-schools-to-stock-epinephrine-auto-injectors
#10
Chelsea Steffens, Benjamin Clement, William Fales, Ahel El Haj Chehade, Kevin Putman, Robert Swor
BACKGROUND: The Michigan Legislature mandated that all public schools stock epinephrine auto-injectors (EAIs). A minimal amount is known regarding the incremental value of EAIs in schools. Our primary objective was to describe the frequency of administration of epinephrine for EMS patients with acute allergic reactions in public schools. Our secondary objective was to estimate the cost of mandating public schools to stock EAIs. METHODS: We performed a retrospective cohort study of EMS cases with an impression of allergic reaction and who received epinephrine recorded in the 2014 Michigan EMS Information System (MI-EMSIS)...
April 17, 2017: Prehospital Emergency Care
https://www.readbyqxmd.com/read/28387141/nationwide-incidence-of-motor-neuron-disease-using-the-french-health-insurance-information-system-database
#11
Sofiane Kab, Frédéric Moisan, Pierre-Marie Preux, Benoît Marin, Alexis Elbaz
OBJECTIVE: There are no estimates of the nationwide incidence of motor neuron disease (MND) in France. We used the French health insurance information system to identify incident MND cases (2012-2014), and compared incidence figures to those from three external sources. METHODS: We identified incident MND cases (2012-2014) based on three data sources (riluzole claims, hospitalisation records, long-term chronic disease benefits), and computed MND incidence by age, gender, and geographic region...
April 7, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28381746/syndrome-of-inappropriate-antidiuretic-hormone-secretion-associated-with-amyotrophic-lateral-sclerosis-in-a-patient-developing-carbon-dioxide-narcosis
#12
Yui Inoue, Takaaki Murakami, Takeshi Nakamura, Kyohei Morita, Daita Kaneda, Ichizo Nishino, Tetsuya Hayashi, Yuya Shinoto, Tomonobu Hatoko, Tomoko Kato, Shin Yonemitsu, Seiji Muro, Shogo Oki
We report a rare case of syndrome of inappropriate antidiuretic hormone secretion (SIADH) associated with amyotrophic lateral sclerosis (ALS). A 69-year-old man was admitted to our hospital with sustained hyponatremia. Hyposmolality with elevated urinary osmolality and sodium excretion was observed, which indicated SIADH. The treatment for SIADH was challenging; the patient developed carbon dioxide narcosis, which led to the diagnosis of ALS. After the initiation of noninvasive positive-pressure ventilation, the patient's serum sodium concentration normalized and became stable...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28371266/autism-spectrum-disorders-and-the-amplitude-of-auditory-brainstem-response-wave-i
#13
Mariline Santos, Cristina Marques, Ana Nóbrega Pinto, Raquel Fernandes, Miguel Bebiano Coutinho, Cecília Almeida E Sousa
To determine whether children with autism spectrum disorders (ASDs) have an increased number of wave I abnormal amplitudes in auditory brainstem responses (ABRs) than age- and sex-matched typically developing children. This analytical case-control study compared patients with ASDs between the ages of 2 and 6 years and children who had a language delay not associated with any other pathology. Amplitudes of ABR waves I and V; absolute latencies (ALs) of waves I, III, and V; and interpeak latencies (IPLs) I-III, III-IV, and I-V at 90 dB were compared between ASD patients and normally developing children...
April 1, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28367949/an-early-history-of-japanese-amyotrophic-lateral-sclerosis-als-and-the-current-significance
#14
Koji Abe
The present review focuses an early history of Japanese amyotrophic lateral sclerosis (ALS) and the current significance in comparison to previously known and newly found reports on Japanese ALS. After a preliminary case report of ALS by Masamichi Hirai on 1890, 2 completed reports were simultaneously published within 2 weeks of 1891 by Momojiro Nakamura and Zenjiro Inoue, followed by Eikichi Watanabe's report on 1892. After Shonosuke Hasegawa's and Hiroshi Kawahara's case reports on 1894-1896, Aihiko Sata first reported an autopsy case of ALS on 1897...
April 28, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28358904/neurotrophic-effects-of-progranulin-in-vivo-in-reversing-motor-neuron-defects-caused-by-over-or-under-expression-of-tdp-43-or-fus
#15
Babykumari P Chitramuthu, Denis G Kay, Andrew Bateman, Hugh P J Bennett
Progranulin (PGRN) is a glycoprotein with multiple roles in normal and disease states. Mutations within the GRN gene cause frontotemporal lobar degeneration (FTLD). The affected neurons display distinctive TAR DNA binding protein 43 (TDP-43) inclusions. How partial loss of PGRN causes TDP-43 neuropathology is poorly understood. TDP-43 inclusions are also found in affected neurons of patients with other neurodegenerative diseases including amyotrophic lateral sclerosis (ALS) and Alzheimer's disease. In ALS, TDP-43 inclusions are typically also immunoreactive for fused in sarcoma (FUS)...
2017: PloS One
https://www.readbyqxmd.com/read/28356084/conjugal-amyotrophic-lateral-sclerosis-a-case-report-from-scotland
#16
P M Fernandes, M R Macleod, A Bateman, S Abrahams, S Pal
BACKGROUND: Conjugal amyotrophic lateral sclerosis is rare, with significant effects on psychological and care needs. We report a case of conjugal amyotrophic lateral sclerosis disease from central Scotland. This case is particularly unusual as both patients were diagnosed within an 18-month period and experienced the disease simultaneously, with similar symptomatology and progression. CASE PRESENTATION: Patient A was a 71-year-old man who presented with unilateral arm weakness and wasting...
March 29, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28355414/retrospective-assessment-of-occupational-exposures-for-the-geneva-study-of-als-among-military-veterans
#17
Anila Bello, Susan R Woskie, Rebecca Gore, Dale P Sandler, Silke Schmidt, Freya Kamel
Objective: This paper describes the retrospective exposure assessment conducted to assess occupational exposures for the Genes and Environmental Exposures in Veterans (GENEVA) study, a case-control study investigating the joint contribution of genetics and environmental exposures to the risk of amyotrophic lateral sclerosis (ALS) among military veterans. Methods: Occupational histories for 1597 study participants collected as part of the GENEVA study were the basis for this retrospective exposure assessment...
April 1, 2017: Annals of Work Exposures and Health
https://www.readbyqxmd.com/read/28301478/retrotransposon-activation-contributes-to-neurodegeneration-in-a-drosophila-tdp-43-model-of-als
#18
Lisa Krug, Nabanita Chatterjee, Rebeca Borges-Monroy, Stephen Hearn, Wen-Wei Liao, Kathleen Morrill, Lisa Prazak, Nikolay Rozhkov, Delphine Theodorou, Molly Hammell, Josh Dubnau
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are two incurable neurodegenerative disorders that exist on a symptomological spectrum and share both genetic underpinnings and pathophysiological hallmarks. Functional abnormality of TAR DNA-binding protein 43 (TDP-43), an aggregation-prone RNA and DNA binding protein, is observed in the vast majority of both familial and sporadic ALS cases and in ~40% of FTLD cases, but the cascade of events leading to cell death are not understood...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28293919/-extracorporeal-liver-support-of-liver-failure
#19
Hans Ulrich Gerth, Michele Pohlen, Hermann Pavenstädt, Hartmut Schmidt
Extracorporeal liver support can be classified into cell-free, artificial methods (artificial liver support, ALS) and cell-based bioartificial methods (bioartificial liver support, BLS). ALS improves biochemical parameters of liver failure by the simultaneous removal of protein-bound and water-soluble substances. Here, the MARS therapy belongs to the most studied methods with a proved beneficial effect on hepatic encephalopathy (HE), hepatorenal syndrome (HRS) or hyperbilirubinemia. However, a general survival advantage of any liver support for liver failure has not been shown yet and is restricted to meta-analyses or patient subgroups...
April 2017: Zeitschrift Für Gastroenterologie
https://www.readbyqxmd.com/read/28291468/navy-en-route-care-a-3-year-review-of-428-navy-air-evacuations
#20
Benjamin Walrath, Alejandra Mora, Victoria Ganem, Stephen Harper, Elliot Ross, Chetan Kharod, Gerard Demers, Vikhyat S Bebarta
BACKGROUND: Navy medical personnel have been recording en route care (ERC) missions through Search and Rescue (SAR) reports since the 1970's. Our objective was to report clinical ERC cases treated by Navy operational assets from January 2012 to January 2015. METHODS: The Search and Rescue Model Manager office collects SAR reports for all patient transports involving Navy personnel and equipment. From these reports, descriptive statistics to include total number of patients transported, percentages of Advanced Life Support versus Basic Life Support transports, time of transport, and type of ERC provider for the transport were collected...
March 2017: Military Medicine
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