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Als case report

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https://www.readbyqxmd.com/read/28195573/whole-exome-sequencing-of-individuals-from-an-isolated-population-implicates-rare-risk-variants-in-bipolar-disorder
#1
F Lescai, T D Als, Q Li, M Nyegaard, G Andorsdottir, M Biskopstø, A Hedemand, A Fiorentino, N O'Brien, A Jarram, J Liang, J Grove, J Pallesen, E Eickhardt, M Mattheisen, L Bolund, D Demontis, A G Wang, A McQuillin, O Mors, J Wang, A D Børglum
Bipolar disorder affects about 1% of the world's population, and its estimated heritability is about 75%. Only few whole genome or whole-exome sequencing studies in bipolar disorder have been reported, and no rare coding variants have yet been robustly identified. The use of isolated populations might help finding variants with a recent origin, more likely to have drifted to higher frequency by chance. Following this approach, we investigated 28 bipolar cases and 214 controls from the Faroe Islands by whole exome sequencing, and the results were followed-up in a British sample of 2025 cases and 1358 controls...
February 14, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28163193/the-neuropathological-signature-of-bulbar-onset-als-a-systematic-review
#2
REVIEW
S Shellikeri, V Karthikeyan, R Martino, S E Black, L Zinman, J Keith, Y Yunusova
ALS is a multisystem disorder affecting cognitive and motor functions. Bulbar-onset ALS (bALS) may be preferentially associated with language/cognitive impairments, compared with spinal-onset ALS (sALS), stemming from a potentially unique neuropathology. The objective of this systematic review was to compare neuropathology reported for bALS and sALS subtypes in studies of cadaveric brains. Using Cochrane guidelines, we reviewed articles in MEDLINE, Embase, and PsycINFO databases using standardized search terms for ALS and neuropathology, from inception until July 16th 2016...
February 2, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28152620/incidence-of-amyotrophic-lateral-sclerosis-in-the-province-of-novara-italy-and-possible-role-of-environmental-pollution
#3
Marina Tesauro, Michela Consonni, Tommaso Filippini, Letizia Mazzini, Fabrizio Pisano, Adriano Chiò, Aniello Esposito, Marco Vinceti
OBJECTIVE AND METHODS: Based on nationwide death certificates, a cluster of amyotrophic lateral sclerosis (ALS) has been reported in the area of Briga (Novara province, northern Italy), known for its severe environmental contamination. We further investigated this finding, by following up with the collection of recent incidence ALS data in 2002-2012 of Novara province, also to assess the possible long-term effects of environmental pollution in that area. RESULTS: In the whole Novara province we identified 106 ALS cases, of which 35 were from the Briga area...
February 2, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28140676/further-analysis-of-kifap3-gene-in-als-patients-from-switzerland-and-sweden
#4
David Czell, Peter C Sapp, Christoph Neuwirth, Markus Weber, Peter M Andersen, Robert H Brown
A series of studies suggests that susceptibility to ALS may be influenced by variants in multiple genes. While analyses of the 10% of cases of familial origin have identified more than 33 monogenic ALS-causing genetic defects, little is known about genetic factors that influence susceptibility or phenotype in sporadic ALS (SALS). We and others conducted a genome-wide association study (GWAS) in a cohort of 1014 ALS cases from Western Europe, England and the United States, and identified an intronic single nucleotide polymorphism (SNP) rs1541160 in the KIFAP3 gene that was statistically associated with improved survival...
January 31, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28122372/environmental-and-occupational-exposures-and-amyotrophic-lateral-sclerosis-in-new-england
#5
Angeline S Andrew, Tracie A Caller, Rup Tandan, Eric J Duell, Patricia L Henegan, Nicholas C Field, Walter G Bradley, Elijah W Stommel
BACKGROUND: Recent data provide support for the concept that potentially modifiable exposures are responsible for sporadic amyotrophic lateral sclerosis (ALS). OBJECTIVE: To evaluate environmental and occupational exposures as risk factors for sporadic ALS. METHODS: We performed a case-control study of ALS among residents of New England, USA. The analysis compared questionnaire responses from 295 patients with a confirmed ALS diagnosis to those of 225 controls without neurodegenerative illness...
January 26, 2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28105640/the-genotype-phenotype-landscape-of-familial-amyotrophic-lateral-sclerosis-in-australia
#6
Emily P McCann, Kelly L Williams, Jennifer A Fifita, Ingrid S Tarr, Jody O'Connor, Dominic B Rowe, Garth A Nicholson, Ian P Blair
Amyotrophic lateral sclerosis (ALS) is a clinically and genetically heterogeneous fatal neurodegenerative disease. Around 10% of ALS cases are hereditary. ALS gene discoveries have provided most of our understanding of disease pathogenesis. We aimed to describe the genetic landscape of ALS in Australia by assessing 1013 Australian ALS patients for known ALS mutations by direct sequencing, whole exome sequencing or repeat primed PCR. Age of disease onset and disease duration were used for genotype-phenotype correlations...
January 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28089419/risk-factors-for-respiratory-failure-of-motor-neuron-disease-in-a-multiracial-asian-population
#7
Xiao Deng, Ying Hao, Bin Xiao, Eng-King Tan, Yew-Long Lo
BACKGROUND: Motor neuron disease (MND) is a devastating degenerative disorder. Amyotrophic Lateral Sclerosis (ALS) is the most common and severe form of MND. Respiratory failure arising from ventilator musculature atrophy is the most common cause of death for ALS patients. Exploring the factors correlated with respiratory failure can contribute to disease management. PURPOSE: To characterize the clinical features of MND and determine the factors that may affect respiratory failure of MND patients...
January 12, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28054830/a-novel-mutation-of-the-c-terminal-amino-acid-of-fus-y526c-strengthens-fus-gene-as-the-most-frequent-genetic-factor-in-aggressive-juvenile-als
#8
Philippe Corcia, Veronique Danel, Arnaud Lacour, Stephane Beltran, Christian Andres, Philippe Couratier, Helene Blasco, Patrick Vourc'h
Although amyotrophic lateral sclerosis (ALS) typically occurs around 60 years, numerous publications report an onset of ALS before the age of 25 years that define juvenile ALS (jALS). Over the last decade, growing literature mentioned jALS with an aggressive evolution which are mainly linked to the FUS gene. We report here the case of a 25-year-old woman with a bulbar onset ALS that progressed in less than 12 months to invasive ventilation due to respiratory failure; Genetic screening identified a new mutation in the FUS gene that lies within the last codon...
January 5, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28035186/rapid-progression-of-sporadic-als-in-a-patient-carrying-sod1-p-gly13arg-mutation
#9
Myung-Jin Kim, Jae-Han Bae, Jeong-Min Kim, Hye Ryoun Kim, Byung-Nam Yoon, Jung-Joon Sung, Suk-Won Ahn
Amyotrophic lateral sclerosis (ALS), the most common adult onset motor neuron disease, is pathologically characterized by progressive loss of the upper and lower motor neurons. Mutations in the Cu/Zn superoxide dismutase gene (SOD1) account for about 20% of familial ALS cases and a small percentage of sporadic ALS (SALS) cases, and have revealed a validated genotype-phenotype correlation. Herein, we report a p.Gly13Arg mutation in SOD1 exon 1 in a patient with SALS who presented with a rapidly progressive course, predominantly affecting the lower motor neurons...
December 2016: Experimental Neurobiology
https://www.readbyqxmd.com/read/28025808/backbone-resonance-assignments-of-monomeric-sod1-in-dilute-and-crowded-environments
#10
Naoto Iwakawa, Daichi Morimoto, Erik Walinda, Kenji Sugase, Masahiro Shirakawa
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that leads to movement disorders. In motor neurons of ALS patients, intracellular aggregates of superoxide dismutase 1 (SOD1) have often been observed. To elucidate the aggregation mechanism, it is important to analyze the folding equilibrium of SOD1 between folded and aggregation-prone unfolded states. However, in most cases, this folding equilibrium has been studied in dilute solution even though the aggregate formation occurs in a highly crowded intracellular environment...
December 26, 2016: Biomolecular NMR Assignments
https://www.readbyqxmd.com/read/28012325/short-and-long-term-outcomes-after-pancreaticoduodenectomy-following-total-gastorectomy-report-of-case-series-and-literature-review
#11
Satoshi Yokoyama, Kohei Ueno, Yasuhiro Higashide, Atsushi Noma, Yuko Okishio, Mitsuru Masuda, Takumi Miyamoto, Ryo Kamimura, Shinichi Hosokawa, Yoshikuni Yonenaga, Daisuke Ito, Masato Ichimiya, Yoshito Yamashita, Shiro Uyama, Shady EIGhazly Harb
PURPOSE: Pancreaticoduodenectomy (PD) following gastrectomy (TG) should be considered challenging even currently although its procedure and clinical value have been being standardized. Short- and long-term outcomes as well as standard reconstruction method following these procedures remain unclear. In order to clarify these issues, we reviewed worldwide English literature and 4 of our own cases of PD for patients with previous TG. METHODS: Clinicopathological variables of 11 cases of PD for patients with previous TG were evaluated...
November 27, 2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28000348/no-association-between-borrelia-burgdorferi-antibodies-and-amyotrophic-lateral-sclerosis-in-a-case-control-study
#12
A E Visser, F M Verduyn Lunel, J H Veldink, L H van den Berg
BACKGROUND AND PURPOSE: Previous studies, mostly case reports and uncontrolled studies, provide a low level of evidence for the hypothesized link between Lyme disease and amyotrophic lateral sclerosis (ALS). In order to make evidence-based recommendations regarding testing for Borrelia burgdorferi antibodies in the diagnostic work-up for ALS, the objective of this study was to explore the evidence for an association between these antibodies and ALS in a case-control design including age-, gender- and residency-matched controls...
January 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/27987068/single-site-robotic-assisted-apical-lateral-suspension-ss-r-als-for-advanced-pelvic-organ-prolapse-first-case-reported
#13
Andrea Giannini, Eleonora Russo, Paolo Mannella, Tommaso Simoncini
While single-port laparoscopy for gynecological surgery is technically challenging, the Da Vinci Single-Site(®) robotic surgery platform may help to overcome some of the difficulties of this rapidly evolving technique. The authors of this article present the first case of single-incision, robotic apical lateral suspension (R-ALS) using this device in pelvic organ prolapse (POP) surgery. A 71-year-old female with advanced symptomatic anterior and apical prolapse (POP-Q stage III/III) was operated with a single-site approach using the Da Vinci Single-Site(®) robotic surgery device...
December 17, 2016: Journal of Robotic Surgery
https://www.readbyqxmd.com/read/27980528/uterine-angioleiomyoma-a-rare-variant-of-uterine-leiomyoma-review-of-literature-and-case-reports
#14
Dobrosława L Sikora-Szczęśniak
INTRODUCTION: Uterine angioleiomyoma (AL) is an extremely rare variant of uterine leiomyoma. It is composed of smooth muscle cells and thick-walled blood vessels. Angioleiomyoma usually occurs in middle-aged women, 40-60 years old. Aim of the study was to review of literature research reports on uterine AL. Discussion of nine case reports of uterine AL in the patients operated on in our ward. MATERIAL AND METHODS: The paper presents analysis of accessible research reports on uterine AL, and medical records of the patients operated on in our ward...
November 2016: Przeglad Menopauzalny, Menopause Review
https://www.readbyqxmd.com/read/27897242/cortical-synaptic-and-dendritic-spine-abnormalities-in-a-presymptomatic-tdp-43-model-of-amyotrophic-lateral-sclerosis
#15
Matthew J Fogarty, Paul M Klenowski, John D Lee, Joy R Drieberg-Thompson, Selena E Bartlett, Shyuan T Ngo, Massimo A Hilliard, Mark C Bellingham, Peter G Noakes
Layer V pyramidal neurons (LVPNs) within the motor cortex integrate sensory cues and co-ordinate voluntary control of motor output. In amyotrophic lateral sclerosis (ALS) LVPNs and spinal motor neurons degenerate. The pathogenesis of neural degeneration is unknown in ALS; 10% of cases have a genetic cause, whereas 90% are sporadic, with most of the latter showing TDP-43 inclusions. Clinical and experimental evidence implicate excitotoxicity as a prime aetiological candidate. Using patch clamp and dye-filling techniques in brain slices, combined with high-resolution confocal microscopy, we report increased excitatory synaptic inputs and dendritic spine densities in early presymptomatic mice carrying a TDP-43(Q331K) mutation...
November 29, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27892983/association-of-mutations-in-tbk1-with-sporadic-and-familial-amyotrophic-lateral-sclerosis-and-frontotemporal-dementia
#16
Axel Freischmidt, Kathrin Müller, Albert C Ludolph, Jochen H Weishaupt, Peter M Andersen
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are related neurodegenerative syndromes that occur sporadically or have been associated with mostly dominant inheritance of mutations in more than 30 genes. A critical issue is whether all reported mutations are disease causing or are coincidental findings. In this review we analyze the pathogenicity of nonsynonymous variants in the newly discovered gene encoding TANK-binding kinase 1 (TBK1). The available data suggest that mutations in TBK1 that cause a 50% reduction of TBK1 protein levels are pathogenic...
January 1, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/27892707/is-firstly-diagnosed-als-really-als-results-of-a-population-based-study-with-long-term-follow-up
#17
Elisabetta Pupillo, Elisa Bianchi, Marco Poloni, Ettore Beghi
OBJECTIVE: To revise the first diagnosis of amyotrophic lateral sclerosis (ALS) in patients from a well-defined population. METHODS: Patients diagnosed with ALS in the years 1998-2002 and resident of Lombardy Region, Northern Italy were followed until death or April 30 2016 to assess long-term survival. During follow-up, the caring neurologists were asked to confirm the first diagnosis. Revised diagnoses were classified as confirmed and unconfirmed motor neuron disease (MND) with further specification where available...
November 28, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/27888187/what-does-the-alsfrs-r-really-measure-a-longitudinal-and-survival-analysis-of-functional-dimension-subscores-in-amyotrophic-lateral-sclerosis
#18
James Rooney, Tom Burke, Alice Vajda, Mark Heverin, Orla Hardiman
INTRODUCTION: ALS functional rating scale (revised) (ALSFRS-R) is the most widely used functional rating system in patients with amyotrophic lateral sclerosis (ALS). However, heterogeneity in ALSFRS-R progression renders analysis challenging. We have explored the characteristics of total ALSFRS-R, and ALSFRS-R subscores in longitudinal and survival models, to determine whether subscore analysis enhances the precision of the instrument. METHODS: All cases with ALSFRS-R scores on the Irish ALS register were included...
November 25, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27878793/novel-cases-of-amyotrophic-lateral-sclerosis-after-treatment-of-cerebral-arteriovenous-malformationss
#19
Michael Linnebank, Cameron G McDougall, Stefanie Krueger, Saskia Biskup, Manuela Neumann, Michael Weller, Antonios Valavanis, Johannes Prudlo
Previous case studies reported nine patients with cerebral arteriovenous malformations (AVM) who developed amyotrophic lateral sclerosis (ALS) after AVM embolisation. Here, we describe three novel cases of ALS which developed 13-34 years after treatment, including embolisation, of cerebral AVM. This study provides further arguments supporting the thesis that embolisation of cerebral AVM might influence the risk of later ALS development.
2016: Swiss Medical Weekly
https://www.readbyqxmd.com/read/27863479/myasthenic-symptoms-in-anti-low-density-lipoprotein-receptor-related-protein-4-antibody-seropositive-amyotrophic-lateral-sclerosis-two-case-reports
#20
Hisashi Takahashi, Yu-Ichi Noto, Naoki Makita, Yukie Kushimura-Okada, Ryotaro Ishii, Akihiro Tanaka, Tomoyuki Ohara, Shunya Nakane, Osamu Higuchi, Masanori Nakagawa, Toshiki Mizuno
BACKGROUND: Myasthenic symptoms can be present in patients with amyotrophic lateral sclerosis (ALS). These symptoms have been considered to be caused by the degeneration of distal motor neurons and the neuromuscular junction (NMJ). Recent studies suggested that antibody to low-density lipoprotein receptor-related protein 4 (LRP4) was a pathogenic agent of myasthenia gravis (MG), and it was also detected in ALS patients. CASE PRESENTATION: Patient 1: A 58-year-old Japanese man developed progressive weakness and subsequent myasthenic symptoms including oculomotor disturbance...
November 18, 2016: BMC Neurology
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