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https://www.readbyqxmd.com/read/28432873/conditional-deletion-of-bmal1-accentuates-microvascular-and-macrovascular-injury
#1
Ashay D Bhatwadekar, Eleni Beli, Diao Yanpeng, Jonathan Chen, Qianyi Luo, Alpha Alex, Sergio Caballero, James M Dominguez, Tatiana E Salazar, Julia V Busik, Mark S Segal, Maria B Grant
The brain and muscle aryl hydrocarbon receptor nuclear translocator-like protein (BMAL)-1 constitutes a major transcriptional regulator of the circadian clock. Here, we explored the impact of conditional deletion of Bmal1 in endothelium and hematopoietic cells in murine models of microvascular and macrovascular injury. We used two models of Bmal1(fx/fx);Tek-Cre mice, a retinal ischemia/reperfusion model and a neointimal hyperplasia model of the femoral artery. Eyes were enumerated for acellular capillaries and were stained for oxidative damage markers using nitrotyrosine immunohistochemistry...
April 19, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28432728/expansion-of-the-clinical-phenotype-of-the-distal-10q26-3-deletion-syndrome-to-include-ataxia-and-hyperemia-of-the-hands-and-feet
#2
Melanie Lacaria, Myriam Srour, Jacques L Michaud, Asif Doja, Elka Miller, Jeremy Schwartzentruber, Claire Goldsmith, Jacek Majewski, Kym M Boycott
Distal deletion of the long arm of chromosome 10 is associated with a dysmorphic craniofacial appearance, microcephaly, behavioral issues, developmental delay, intellectual disability, and ocular, urogenital, and limb abnormalities. Herein, we present clinical, molecular, and cytogenetic investigations of four patients, including two siblings, with nearly identical terminal deletions of 10q26.3, all of whom have an atypical presentation of this syndrome. Their prominent features include ataxia, mild-to-moderate intellectual disability, and hyperemia of the hands and feet, and they do not display many of the other features commonly associated with deletions of this region...
April 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28432641/dentatorubro-pallidoluysian-atrophy-drpla-among-700-families-with-ataxia-in-brazil
#3
Pedro Braga-Neto, José Luiz Pedroso, Gabriel Vasata Furtado, Tailise Conte Gheno, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Orlando G P Barsottini
Dentatorubro-pallidoluysian atrophy (DRPLA) is a spinocerebellar ataxia (SCA) very rare in non-Asian populations. To date, DRPLA was undetected in the general Brazilian population. Adult-onset ataxic patients have been recruited from several Brazilian neurology and neurogenetics centers. CAG lengths at SCA1, SCA2, SCA3/MJD, SCA6, SCA7, SCA12, SCA17 and DRPLA associated genes, and ATTCT expansions at SCA10 gene were studied. A single DRPLA case detected is reported. Proband was a 69-year-old Brazilian woman of mixed ancestry, with a late-onset pure ataxia: her alleles at the associated gene, ATN1, presented 14/52 CAG repeats...
April 21, 2017: Cerebellum
https://www.readbyqxmd.com/read/28432174/postintervention-acute-opsoclonus-myoclonus-syndrome
#4
Annelise Aquilina, Nicola Dingli, Josanne Aquilina
Opsoclonus myoclonus syndrome (OMS) is a rare, neurological condition affecting 1 in 10 000 000 people annually. Opsoclonus, defined as involuntary rapid, multivectorial oscillations of the eyes, together with ataxia and myoclonus are usually present. OMS may be paraneoplastic: often associated with occult neuroblastoma in childhood and with breast carcinoma or small cell lung carcinoma in adults. Other aetiologies include viral or toxic agents. The pathogenesis is thought to be immune mediated. A 37-year-old woman with previous inflammatory cranial mononeuropathies was admitted for elective dilatation and curettage (D&C)...
April 21, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28431624/opsoclonus-myoclonus-ataxia-associated-with-west-nile-virus-infection-a-dramatic-presentation-with-benign-prognosis
#5
Roy Zaltzman, Colin Klein, Carlos R Gordon
Opsoclonus myoclonus and ataxia is a combination of severe neurological signs associated with several pathologic agents and conditions. Only few cases of opsoclonus have been related to West Nile virus infection. We report on a 61-year-old woman and on a 55-year-old man who had history of recent fever, who were hospitalized because of acute severe truncal ataxia, opsoclonus and tremor with minimal myoclonic jerks. A through work-up revealed the presence of both IgM and IgG antibodies against West Nile virus both in the serum and Cerebrospinal Fluid and excluded other causes known to be associated with this combination of neurological signs...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28431612/xeroderma-pigmentosum-complementation-group-f-a-rare-cause-of-cerebellar-ataxia-with-chorea
#6
G Carré, C Marelli, M Anheim, C Geny, M Renaud, H R Rezvani, M Koenig, C Guissart, C Tranchant
The complementation group F of Xeroderma pigmentosum (XP-F) is rare in the Caucasian population, and usually devoid of neurological symptoms. We report two cases, both Caucasian, who exhibited progressive cerebellar ataxia, chorea, a mild subcortical frontal cognitive impairment, and in one case severe polyneuropathy. Brain MRI demonstrated cerebellar (2/2) and cortical (1/2) atrophy. Both patients had only mild sunburn sensitivity and no skin cancer. Mini-exome sequencing approach revealed in ERCC4, two heterozygous mutations, one of which was never described (c...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28430048/a-spinal-epidural-abscess-due-to-streptobacillus-moniliformis-infection-following-a-rat-bite-case-report
#7
Alexander Hammer, Dorit Wolff, Walter Geißdörfer, Michael Schrey, Renate Ziegler, Hans-Herbert Steiner, Christian Bogdan
The authors describe the case of a 40-year-old man suffering from an epidural abscess in the thoracic spine due to a rarely isolated pathogen, Streptobacillus moniliformis, the causative agent of rat bite fever. Besides diffuse abdominal pain, ataxia, paresthesia, hypesthesia, and enhanced reflexes of the lower extremities, the patient suffered from a decreased sensation of bladder filling. His history was also positive for a rat bite 6 weeks earlier. Magnetic resonance imaging showed an epidural, space-occupying lesion compressing the spinal cord at the vertebral levels of T6-8...
April 21, 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/28427701/multiple-sclerosis-showing-elevation-of-adenosine-deaminase-levels-in-the-cerebrospinal-fluid
#8
Miharu Samuraki, Kenji Sakai, Yasuko Odake, Mitsuhiro Yoshita, Kouichi Misaki, Mitsutoshi Nakada, Masahito Yamada
An 80-year-old man developed dysarthria, quadriplegia, sensory disturbance and ataxia in all limbs. Brain and spinal magnetic resonance imaging (MRI) revealed multiple enhanced lesions. Cerebrospinal fluid (CSF) levels of adenosine deaminase (ADA) remarkably elevated. Tuberculosis DNA was not detected, and tuberculosis was not cultured either in the CSF. Brain biopsy revealed the inflammatory demyelinating lesions. With the diagnosis of multiple sclerosis, corticosteroid therapy resulted in rapid improvement of his symptoms and MRI abnormalities...
April 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28424962/phase-i-dose-escalation-study-of-milciclib-in-combination-with-gemcitabine-in-patients-with-refractory-solid-tumors
#9
Sandrine Aspeslagh, Kunwar Shailubhai, Rastilav Bahleda, Anas Gazzah, Andréa Varga, Antoine Hollebecque, Christophe Massard, Anna Spreafico, Michele Reni, Jean-Charles Soria
BACKGROUND: This phase I trial evaluated the safety and tolerability of milciclib, an inhibitor of multiple cyclin-dependent kinases and tropomycin receptor kinase A, in combination with gemcitabine in patients with refractory solid tumors. DESIGN: Sixteen patients were enrolled and treated with milciclib at three dose levels (45 mg/m(2)/day, n = 3; 60 mg/m(2)/day, n = 3; and 80 mg/m(2)/day, n = 10) with a fixed dose of gemcitabine (1000 mg/m(2)/day). Milciclib was administered orally once daily for 7 days on/7 days off in a 4-week cycle, and gemcitabine was administered intravenously on days 1, 8 and 15 in a 4-week cycle...
April 19, 2017: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/28424304/giant-axonal-neuropathy-alters-the-structure-of-keratin-intermediate-filaments-in-human-hair
#10
Asfia Soomro, Richard J Alsop, Atsuko Negishi, Laurent Kreplak, Douglas Fudge, Edward R Kuczmarski, Robert D Goldman, Maikel C Rheinstädter
Giant axonal neuropathy (GAN) follows an autosomal recessive genetic inheritance and impedes the peripheral and central nervous system due to axonal swellings that are packed with neurofilaments. The patients display a number of phenotypes, including hypotonia, muscle weakness, decreased reflexes, ataxia, seizures, intellectual disability, pale skin and often curled hair. We used X-ray diffraction and tensile testing to determine potential changes to the structure of keratin intermediate filaments (IFs) in the hair of patients with GAN...
April 2017: Journal of the Royal Society, Interface
https://www.readbyqxmd.com/read/28423511/atm-kinase-sustains-breast-cancer-stem-like-cells-by-promoting-atg4c-expression-and-autophagy
#11
Martina Antonelli, Flavie Strappazzon, Ivan Arisi, Rossella Brandi, Mara D'Onofrio, Manolo Sambucci, Gwenola Manic, Ilio Vitale, Daniela Barilà, Venturina Stagni
The efficacy of Ataxia-Telangiectasia Mutated (ATM) kinase signalling inhibition in cancer therapy is tempered by the identification of new emerging functions of ATM, which suggests that the role of this protein in cancer progression is complex. We recently demonstrated that this tumor suppressor gene could act as tumor promoting factor in HER2 (Human Epidermal Growth Factor Receptor 2) positive breast cancer. Herein we put in evidence that ATM expression sustains the proportion of cells with a stem-like phenotype, measured as the capability to form mammospheres, independently of HER2 expression levels...
March 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28423040/inheritance-patterns-of-atcct-repeat-interruptions-in-spinocerebellar-ataxia-type-10-sca10-expansions
#12
Ivette Landrian, Karen N McFarland, Jilin Liu, Connie J Mulligan, Astrid Rasmussen, Tetsuo Ashizawa
Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant cerebellar ataxia disorder, is caused by a non-coding ATTCT microsatellite repeat expansion in the ataxin 10 gene. In a subset of SCA10 families, the 5'-end of the repeat expansion contains a complex sequence of penta- and heptanucleotide interruption motifs which is followed by a pure tract of tandem ATCCT repeats of unknown length at its 3'-end. Intriguingly, expansions that carry these interruption motifs correlate with an epileptic seizure phenotype and are unstable despite the theory that interruptions are expected to stabilize expanded repeats...
2017: PloS One
https://www.readbyqxmd.com/read/28422131/variants-in-cplx1-in-two-families-with-autosomal-recessive-severe-infantile-myoclonic-epilepsy-and-id
#13
Silke Redler, Tim M Strom, Thomas Wieland, Kirsten Cremer, Hartmut Engels, Felix Distelmaier, Jörg Schaper, Alma Küchler, Johannes R Lemke, Stephanie Jeschke, Nicole Schreyer, Heinrich Sticht, Margarete Koch, Hermann-Josef Lüdecke, Dagmar Wieczorek
For a large number of individuals with intellectual disability (ID), the molecular basis of the disorder is still unknown. However, whole-exome sequencing (WES) is providing more and more insights into the genetic landscape of ID. In the present study, we performed trio-based WES in 311 patients with unsolved ID and additional clinical features, and identified homozygous CPLX1 variants in three patients with ID from two unrelated families. All displayed marked developmental delay and migrating myoclonic epilepsy, and one showed a cerebellar cleft in addition...
April 19, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28422031/the-importance-of-labyrinthine-examination-in-the-prognosis-and-therapy-for-balance-in-spinocerebellar-ataxia
#14
João Henrique Faryniuk, Bianca Simone Zeigelboim, Hélio Afonso Ghizoni Teive, Vinicius Ribas Fo, Paulo Breno Noronha Liberalesso, Jair Mendes Marques
INTRODUCTION: Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative diseases that are characterized by the presence of progressive cerebellar ataxia. OBJECTIVE: Identify vestibular disorders and demonstrate the importance of labyrinthine examination in the prognosis and therapy for balance in patients with SCAs. MATERIALS AND METHODS: The study had a retrospective cross-sectional design and evaluated 57 patients, mean age of 41...
April 19, 2017: International Tinnitus Journal
https://www.readbyqxmd.com/read/28419947/efficacy-and-safety-of-eslicarbazepine-acetate-in-elderly-patients-with-focal-epilepsy-case-series
#15
A Gómez-Ibáñez, J M Serratosa, E Guillamón, M Garcés, B G Giráldez, M Toledo, J Salas-Puig, F J López-González, J Rodríguez-Uranga, A Castillo, J A Mauri, J L Camacho, E López-Gomáriz, P Giner, N Torres, J Palau, A Molins, V Villanueva
PURPOSE: Eslicarbazepine-acetate (ESL) is a third generation antiepileptic drug licensed as adjunctive therapy in adults with focal seizures. Efficacy and safety of ESL have been established in real-life setting. However, data about outcomes in elderly patients are scarce. Primary endpoint was to evaluate outcomes of ESL in elderly patients. METHOD: This was a retrospective survey that included patients >65years with focal seizures who started ESL between January 2010 and July 2012 at 12 Spanish Hospitals...
April 7, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28419566/perirhinal-accumulation-of-neuronal-alpha-synuclein-in-a-multiple-system-atrophy-patient-with-dementia
#16
Mari Saito, Makoto Hara, Momoko Ebashi, Akihiko Morita, Kyoko Okada, Taku Homma, Masahiko Sugitani, Kentaro Endo, Toshiki Uchihara, Satoshi Kamei
We report the case of a 79-year-old Japanese woman who developed cerebellar ataxia followed by rigidity, dysautonomia and cognitive disorders, and was thus clinically diagnosed as having possible MSA with dementia. Neuropathological findings demonstrated not only olivopontocerebellar and striatonigral degeneration with frequent glial cytoplasmic inclusions (GCIs), but also degenerative changes in the parahippocampal region, accentuated in the anterior portion of perirhinal cortex, where neuronal cytoplasmic inclusions (NCIs) and NFTs were numerous while GCIs were limited...
April 16, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28418844/loss-of-tumour-specific-atm-protein-expression-is-an-independent-prognostic-factor-in-early-resected-nsclc
#17
Lars F Petersen, Alexander C Klimowicz, Shannon Otsuka, Anifat A Elegbede, Stephanie K Petrillo, Tyler Williamson, Chris T Williamson, Mie Konno, Susan P Lees-Miller, Desiree Hao, Don Morris, Anthony M Magliocco, D Gwyn Bebb
Ataxia-telangiectasia mutated (ATM) is critical in maintaining genomic integrity. In response to DNA double-strand breaks, ATM phosphorylates downstream proteins involved in cell-cycle checkpoint arrest, DNA repair, and apoptosis. Here we investigate the frequency, and influence of ATM deficiency on outcome, in early-resected non-small cell lung cancer (NSCLC). Tissue microarrays, containing 165 formalin-fixed, paraffin-embedded resected NSCLC tumours from patients diagnosed at the Tom Baker Cancer Centre, Calgary, Canada, between 2003 and 2006, were analyzed for ATM expression using quantitative fluorescence immunohistochemistry...
March 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28417137/adult-onset-sporadic-cerebellar-ataxia-in-singapore-diagnostic-outcomes-of-paraneoplastic-antibody-testing-and-early-clinical-features-of-paraneoplastic-cerebellar-degeneration
#18
Zheyu Xu, Jinglin Zhang, Samuel Ye Ng, Josiah Yh Chai, Louis Cs Tan
No abstract text is available yet for this article.
March 2017: Annals of the Academy of Medicine, Singapore
https://www.readbyqxmd.com/read/28417072/atypical-juvenile-presentation-of-gm2-gangliosidosis-ab-in-a-patient-compound-heterozygote-for-c-259g%C3%A2-%C3%A2-t-and-c-164c%C3%A2-%C3%A2-t-mutations-in-the-gm2a-gene
#19
Carla Martins, Catherine Brunel-Guitton, Anne Lortie, France Gauvin, Carlos R Morales, Grant A Mitchell, Alexey V Pshezhetsky
GM2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the GM2A gene that encodes GM2 ganglioside activator protein (GM2AP). GM2AP is necessary for solubilisation of GM2 ganglioside in endolysosomes and its presentation to β-hexosaminidase A. Conversely GM2AP deficiency impairs lysosomal catabolism of GM2 ganglioside, leading to its storage in cells and tissues. We describe a 9-year-old child with an unusual juvenile clinical onset of GM2-gangliosidosis AB...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28416844/clinical-characteristics-of-neurogenic-dysphagia-in-adult-patients-with-chiari-malformation-type-i
#20
T Yu, J Li, K Wang, Y Ge, A C Jiang, L P Duan, Z Y Wang
OBJECTIVE: To investigate changes of swallowing function and associated symptoms in Chiari malformation typeI (CMI) patients with and without dysphagia by the analysis of their clinical and high-resolution manometry (HRM) parameters. METHODS: A total of 42 patients diagnosed with symptomatic CMI without atlantoaxial dislocations which were confirmed by clinical manifestations and magnetic resonance imaging (MRI) findings between January 2010 and July 2015 at Peking University Third Hospital were included in this study...
April 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
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