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Isaacs syndrome

Michelle Chi, Isaac P Syrop, Jonas M Sokolof
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
Kelly Isaacs Cloes, Kara S Francis Barfell, Paul S Horn, Steve W Wu, Sarah E Jacobson, Kathleen J Hart, Donald L Gilbert
AIM: To evaluate and compare how children with Tourette syndrome and parents rate tic and non-tic behavioral related impairment in home, school, and social domains; to compare these with clinician tic ratings; and to identify factors that may predict greater impairment. METHOD: In a sample of 85 Tourette syndrome and 92 healthy control families, the Child Tourette Syndrome Impairment Scale, designed for parent-report and which includes 37 items rated for tic and non-tic impairment, was administered to parents and, with the referent modified, to children ages 9 to 17 years...
September 27, 2016: Developmental Medicine and Child Neurology
Osamu Watanabe
Voltage-gated potassium channel (VGKC) complex antibodies are auto-antibodies, initially identified in acquired neuromyotonia (aNMT; Isaacs' syndrome), which cause muscle cramps and difficulty in opening the palm of the hands. Subsequently, these antibodies were found in patients presenting with aNMT along with psychosis, insomnia, and dysautonomia, collectively termed Morvan's syndrome (MoS), and in a limbic encephalopathy (LE) patient with prominent amnesia and frequent seizures. Typical LE cases have a distinctive adult-onset, frequent, brief dystonic seizure semiology that predominantly affects the arms and ipsilateral face...
September 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
Gregory L Hanna, Yanni Liu, Yona E Isaacs, Angela M Ayoub, Jose J Torres, Nolan B O'Hara, William J Gehring
OBJECTIVE: The pathophysiology of obsessive-compulsive disorder (OCD) involves increased activity in corticostriatal circuits connecting the anterior cingulate cortex with other brain regions. The error-related negativity (ERN) is a negative deflection in the event-related potential after an incorrect response that is believed to reflect anterior cingulate cortex activity. This study examined the relation of the ERN to OCD symptom dimensions and other childhood symptom dimensions. METHOD: The ERN, correct response negativity, and accuracy were measured during a flanker task to assess performance monitoring in 80 youth with a lifetime diagnosis of OCD and 80 matched healthy comparison participants ranging from 8 to 18 years old...
October 2016: Journal of the American Academy of Child and Adolescent Psychiatry
Teresa Órpez-Zafra, Jose Pavía, Isaac Hurtado-Guerrero, Maria J Pinto-Medel, Jose Luis Rodriguez Bada, Patricia Urbaneja, Margarita Suardíaz, Luisa M Villar, Manuel Comabella, Xavier Montalban, Jose C Alvarez-Cermeño, Laura Leyva, Óscar Fernández, Begoña Oliver-Martos
BACKGROUND: The soluble isoform of the interferon-β (IFN-β) receptor (sIFNAR2) could modulate the activity of both endogenous and systemically administered IFN-β. Previously, we described lower serum sIFNAR2 levels in untreated multiple sclerosis (MS) than in healthy controls (HCs). OBJECTIVE: To assess sIFNAR2 levels in a new cohort of MS patients and HCs, as well as in patients with clinically isolated syndrome (CIS) and with other inflammatory neurological disorders (OIND) and to assess its ability as a diagnostic biomarker...
September 9, 2016: Multiple Sclerosis: Clinical and Laboratory Research
Isaac H Solomon, Danny A Milner, Rebecca D Folkerth
Zika virus (ZIKV) is a member of the Flaviviridae family that had been associated only with mild disease prior to the 2015 outbreak in Brazil. A dramatic increase in reported cases of microcephaly and Guillain-Barré syndrome during this time prompted significant research into possible associations with ZIKV and its neurotropic properties. Infection of neural progenitor cells and organoids have been shown to induce apoptosis and dysregulation of growth, and mouse studies have demonstrated viral replication in brain tissue in adults, as well as vertical transmission resulting in embryonic brain abnormalities...
June 2016: Journal of Neuroinfectious Diseases
Lorena Bavia, Bruno Cogliati, Juliano Bertollo Dettoni, Venancio Avancini Ferreira Alves, Lourdes Isaac
Non-Alcoholic Fatty Liver Disease (NALD) is considering a hepatic manifestation of metabolic syndrome. Although the pathogenesis of NALD is not completely understood, insulin resistance and inflammatory cytokines are implicated. Considering that component C5 is a central mediator of inflammation, we investigated the role of C5 in the establishment of NALD. Eight to ten-week old B6 C5(+) and A/J C5(-) male mice were fed a high fat diet containing glucose (HFDG) for 6 and 10 weeks. We observed that B6 C5(+) mice HFDG-fed for 10 weeks developed hepatomegaly, triglycerides (TG) accumulation, steatosis and enhanced liver TNF-α, IL-6, IL-12p70 and IL-17 levels when compared to A/J C5(-) mice...
September 2016: Immunology Letters
Todd Lingren, Vidhu Thaker, Cassandra Brady, Bahram Namjou, Stephanie Kennebeck, Jonathan Bickel, Nandan Patibandla, Yizhao Ni, Sara L Van Driest, Lixin Chen, Ashton Roach, Beth Cobb, Jacqueline Kirby, Josh Denny, Lisa Bailey-Davis, Marc S Williams, Keith Marsolo, Imre Solti, Ingrid A Holm, John Harley, Isaac S Kohane, Guergana Savova, Nancy Crimmins
OBJECTIVE: The objective of this study is to develop an algorithm to accurately identify children with severe early onset childhood obesity (ages 1-5.99 years) using structured and unstructured data from the electronic health record (EHR). INTRODUCTION: Childhood obesity increases risk factors for cardiovascular morbidity and vascular disease. Accurate definition of a high precision phenotype through a standardize tool is critical to the success of large-scale genomic studies and validating rare monogenic variants causing severe early onset obesity...
2016: Applied Clinical Informatics
David A Isaacs, Peter Hedera
BACKGROUND: Acquired neurogenic stuttering has been considered a fairly uncommon clinical occurrence; speech-activated myoclonus is a rare entity that can mimic stuttering and is caused by a wide array of etiologies. CASE REPORT: Here we report a patient with myoclonus-dystonia syndrome (MDS), due to an identified disease-causing mutation, who displayed speech-activated myoclonus mimicking stuttering. DISCUSSION: In MDS, myoclonus has only infrequently been reported to affect speech...
2016: Tremor and Other Hyperkinetic Movements
Saskia N van der Crabben, Marije P Hennus, Grant A McGregor, Deborah I Ritter, Sandesh C S Nagamani, Owen S Wells, Magdalena Harakalova, Ivan K Chinn, Aaron Alt, Lucie Vondrova, Ron Hochstenbach, Joris M van Montfrans, Suzanne W Terheggen-Lagro, Stef van Lieshout, Markus J van Roosmalen, Ivo Renkens, Karen Duran, Isaac J Nijman, Wigard P Kloosterman, Eric Hennekam, Jordan S Orange, Peter M van Hasselt, David A Wheeler, Jan J Palecek, Alan R Lehmann, Antony W Oliver, Laurence H Pearl, Sharon E Plon, Johanne M Murray, Gijs van Haaften
The structural maintenance of chromosomes (SMC) family of proteins supports mitotic proliferation, meiosis, and DNA repair to control genomic stability. Impairments in chromosome maintenance are linked to rare chromosome breakage disorders. Here, we have identified a chromosome breakage syndrome associated with severe lung disease in early childhood. Four children from two unrelated kindreds died of severe pulmonary disease during infancy following viral pneumonia with evidence of combined T and B cell immunodeficiency...
August 1, 2016: Journal of Clinical Investigation
Jan-Yow Chen, Jiung-Hsiun Liu, Hong-Dar Isaac Wu, Kuo-Hung Lin, Kuan-Cheng Chang, Ying-Ming Liou
BACKGROUND: Familial sick sinus syndrome is associated with gene mutations and dysfunction of ion channels. In contrast, degenerative fibrosis of the sinus node tissue plays an important role in the pathogenesis of acquired sick sinus syndrome. There is a close relationship between transforming growth factor-β1 mediated cardiac fibrosis and acquired arrhythmia. It is of interest to examine whether transforming growth factor-β1 is involved in the pathogenesis of acquired sick sinus syndrome...
2016: PloS One
Chang-Yien Chan, Isaac Desheng Liu, Lourdes Paula Resontoc, Kar-Hui Ng, Yiong-Huak Chan, Perry Yew-Weng Lau, Mya Than, Stanley C Jordan, Kong-Peng Lam, Wee-Song Yeo, Hui-Kim Yap
BACKGROUND AND OBJECTIVES: Rituximab is used with variable success in difficult FSGS. Because B cell depletion significantly affects T cell function, we characterized T cell subsets in patients with FSGS to determine if an immunologic signature predictive of favorable response to rituximab could be identified. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Twenty-two consecutive patients with FSGS (median age =14.4 years old; range =6.2-25.0 years old) and age of onset of nephrotic syndrome 1-18 years old receiving rituximab for clinical indications between October of 2009 and February of 2014 were studied...
August 8, 2016: Clinical Journal of the American Society of Nephrology: CJASN
Filipa Lynce, Claudine Isaacs
The traditional model by which an individual was identified as harboring a hereditary susceptibility to cancer was to test for a mutation in a single gene or a finite number of genes associated with a particular syndrome (e.g., BRCA1 and BRCA2 for hereditary breast and ovarian cancer or mismatch repair genes for Lynch syndrome). The decision regarding which gene or genes to test for was based on a review of the patient's personal medical history and their family history. With advances in next-generation DNA sequencing technology, offering simultaneous testing for multiple genes associated with a hereditary susceptibility to cancer is now possible...
2016: American Society of Clinical Oncology Educational Book
Isaac E García, Pavel Prado, Amaury Pupo, Oscar Jara, Diana Rojas-Gómez, Paula Mujica, Carolina Flores-Muñoz, Jorge González-Casanova, Carolina Soto-Riveros, Bernardo I Pinto, Mauricio A Retamal, Carlos González, Agustín D Martínez
Mutations in human connexin (Cx) genes have been related to diseases, which we termed connexinopathies. Such hereditary disorders include nonsyndromic or syndromic deafness (Cx26, Cx30), Charcot Marie Tooth disease (Cx32), occulodentodigital dysplasia and cardiopathies (Cx43), and cataracts (Cx46, Cx50). Despite the clinical phenotypes of connexinopathies have been well documented, their pathogenic molecular determinants remain elusive. The purpose of this work is to identify common/uncommon patterns in channels function among Cx mutations linked to human diseases...
2016: BMC Cell Biology
Christian Obirikorang, Lawrence Quaye, James Osei-Yeboah, Enoch Anto Odame, Isaac Asare
BACKGROUND: Prevalence of metabolic syndrome (MetS) in HIV-infected patients is very limited in the Ghanaian setting and may vary across the globe by the different study populations and criteria used. AIM: We investigated the prevalence of MetS among HIV-infected patients receiving highly active antiretroviral therapy (HAART) at the St. Dominic Hospital, Akwatia, Ghana. PATIENTS AND METHODS: This cross-sectional study recruited 433 HIV-infected patients (294 on HAART and 139 HAART-naïve) from the period of February 2013 to December 2013...
March 2016: Nigerian Medical Journal: Journal of the Nigeria Medical Association
Natasa Tul, Mateja Lasic, Katja Bricelj, Andreja Trojner Bregar, Ivan Verdenik, Miha Lucovnik, Isaac Blickstein
OBJECTIVE: To examine the outcomes of births among small and appropriate for gestational age (SGA and AGA) infants by gestational age and maternal characteristics. MATERIALS AND METHODS: We used a national perinatal registry to compare the selected maternal and neonatal outcomes between AGA and SGA neonates born at gestational age groups 33-36, 30-32, 28-29, and <28 weeks. We evaluated maternal body mass index (BMI), pre-gestational/gestational diabetes, hypertensive disorders, and cesarean births as well as frequencies of 5-min Apgar score <7, intraventricular hemorrhage (IVH), respiratory distress syndrome (RDS), the need for assisted ventilation, and early neonatal deaths...
May 13, 2016: Journal of Perinatal Medicine
Barney Thomas Jesudason Isaac, Thomas McLellan, Johnson Samuel, Bernard Yung
A 66-year-old man, an asthmatic, presented with symptoms suggestive of an acute exacerbation of asthma. His arterial blood gas revealed type 1 respiratory failure (PaO2 <8 kPa or 60 mm Hg with normal or low PaCO2) with a compensated lactic acidosis. He was treated for an asthma exacerbation and sepsis. Despite treatment, his respiratory rate remained elevated although his hypoxaemia improved. There was progressive worsening of the lactic acidosis. Treatment for sepsis was augmented. Peak flow measurements were not used to assess the severity of his exacerbation nor his response to treatment...
2016: BMJ Case Reports
Najaf Amin, Karla V Allebrandt, Ashley van der Spek, Bertram Müller-Myhsok, Karin Hek, Maris Teder-Laving, Caroline Hayward, Tõnu Esko, Josine G van Mill, Hamdi Mbarek, Nathaniel F Watson, Scott A Melville, Fabiola M Del Greco, Enda M Byrne, Edwin Oole, Ivana Kolcic, Ting-Hsu Chen, Daniel S Evans, Josef Coresh, Nicole Vogelzangs, Juha Karjalainen, Gonneke Willemsen, Sina A Gharib, Lina Zgaga, Evelin Mihailov, Katie L Stone, Harry Campbell, Rutger Ww Brouwer, Ayse Demirkan, Aaron Isaacs, Zoran Dogas, Kristin D Marciante, Susan Campbell, Fran Borovecki, Annemarie I Luik, Man Li, Jouke Jan Hottenga, Jennifer E Huffman, Mirjam Cgn van den Hout, Steven R Cummings, Yurii S Aulchenko, Philip R Gehrman, André G Uitterlinden, Heinz-Erich Wichmann, Martina Müller-Nurasyid, Rudolf Sn Fehrmann, Grant W Montgomery, Albert Hofman, Wen Hong Linda Kao, Ben A Oostra, Alan F Wright, Jacqueline M Vink, James F Wilson, Peter P Pramstaller, Andrew A Hicks, Ozren Polasek, Naresh M Punjabi, Susan Redline, Bruce M Psaty, Andrew C Heath, Martha Merrow, Gregory J Tranah, Daniel J Gottlieb, Dorret I Boomsma, Nicholas G Martin, Igor Rudan, Henning Tiemeier, Wilfred Fj van IJcken, Brenda W Penninx, Andres Metspalu, Thomas Meitinger, Lude Franke, Till Roenneberg, Cornelia M van Duijn
Time to fall asleep (sleep latency) is a major determinant of sleep quality. Chronic, long sleep latency is a major characteristic of sleep-onset insomnia and/or delayed sleep phase syndrome. In this study we aimed to discover common polymorphisms that contribute to the genetics of sleep latency. We performed a meta-analysis of genome-wide association studies (GWAS) including 2 572 737 single nucleotide polymorphisms (SNPs) established in seven European cohorts including 4242 individuals. We found a cluster of three highly correlated variants (rs9900428, rs9907432 and rs7211029) in the RNA-binding protein fox-1 homolog 3 gene (RBFOX3) associated with sleep latency (P-values=5...
October 2016: European Journal of Human Genetics: EJHG
Ratchaya Lertnawapan, Kongkiat Kulkantrakorn
This is a case report of Isaacs' syndrome in dermatomyositis. The patient presented with proximal muscle weakness, rash, elevated muscle enzyme, myopathic electromyograph and typical muscle biopsy. Ultimately he developed typical symptoms of Isaacs' syndrome which is an autoimmune channelopathy from voltage gated potassium channel antibody (anti-VGKC) leading to dysfunction of axonal discharge at neuromuscular junctions. It shares some similar characteristics with dermatomyositis such as autoimmunity, its association with malignancy and the response to treatment...
May 2, 2016: International Journal of Rheumatic Diseases
Maha S Zaki, Gifty Bhat, Tipu Sultan, Mahmoud Issa, Hea-Jin Jung, Esra Dikoglu, Laila Selim, Imam G Mahmoud, Mohamed S Abdel-Hamid, Ghada Abdel-Salam, Isaac Marin-Valencia, Joseph G Gleeson
OBJECTIVE: A study was undertaken to characterize the clinical features of the newly described hypomyelinating leukodystrophy type 10 with microcephaly. This is an autosomal recessive disorder mapped to chromosome 1q42.12 due to mutations in the PYCR2 gene, encoding an enzyme involved in proline synthesis in mitochondria. METHODS: From several international clinics, 11 consanguineous families were identified with PYCR2 mutations by whole exome or targeted sequencing, with detailed clinical and radiological phenotyping...
July 2016: Annals of Neurology
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