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https://www.readbyqxmd.com/read/29349289/mixed-neurodevelopmental-and-neurodegenerative-pathology-in-nhe6-null-mouse-model-of-christianson-syndrome
#1
Meiyu Xu, Qing Ouyang, Jingyi Gong, Matthew F Pescosolido, Brandon S Pruett, Sasmita Mishra, Michael Schmidt, Richard N Jones, Ece D Gamsiz Uzun, Sofia B Lizarraga, Eric M Morrow
Christianson syndrome (CS) is an X-linked disorder resulting from loss-of-function mutations in SLC9A6, which encodes the endosomal Na+/H+ exchanger 6 (NHE6). Symptoms include early developmental delay, seizures, intellectual disability, nonverbal status, autistic features, postnatal microcephaly, and progressive ataxia. Neuronal development is impaired in CS, involving defects in neuronal arborization and synaptogenesis, likely underlying diminished brain growth postnatally. In addition to neurodevelopmental defects, some reports have supported neurodegenerative pathology in CS with age...
November 2017: ENeuro
https://www.readbyqxmd.com/read/29341480/cutis-laxa-and-excessive-bone-growth-due-to-de-novo-mutations-in-ptdss1
#2
Juliette Piard, James Lespinasse, Marketa Vlckova, Martin A Mensah, Sorin Iurian, Martina Simandlova, Marcela Malikova, Oliver Bartsch, Massimiliano Rossi, Marion Lenoir, Frédérique Nugues, Stefan Mundlos, Uwe Kornak, Philip Stanier, Sérgio B Sousa, Lionel Van Maldergem
The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a very rare phenotype associating cutis laxa, facial dysmorphism, severe growth retardation, hyperostotic skeletal dysplasia, and intellectual disability...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29329947/-pseudoexfoliation-syndrome-and-pseudoexfoliation-glaucoma
#3
REVIEW
C Schweitzer
Pseudoexfoliation syndrome is an age-related systemic disease that mainly affects the anterior structures of the eye. Despite a worldwide distribution, reported incidence and prevalence of this syndrome vary widely between ethnicities and geographical areas. The exfoliative material is composed mainly of abnormal cross-linked fibrils that accumulate progressively in some organs such as the heart, blood vessels, lungs or meninges, and particularly in the anterior structures of the eye. The exact pathophysiological process still remains unclear but the association of genetic and environmental factors are thought to play a role in the development and progressive extracellular accumulation of exfoliative material...
January 9, 2018: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/29328039/influence-of-metabolic-syndrome-on-condition-of-microcirculatory-bed-of-oral-cavity
#4
O Denga, T Pyndus, V Gargin, S Schneider
Metabolic syndrome (MS) can be characterized as the clustering of combination of impaired glucose regulation, metabolic disorders accompanied by abdominal obesity, hyperglycemia, high blood pressure and dyslipidemia. Detection of changes in microcirculatory bed (MCB) of oral cavity in metabolic syndrome could be important for completion of gap for developing of adequate therapeutical measure for prevention of pathological periodontal disorder that was the purpose of our study. We performed experimental investigation with modulation of MS (on white male rats 1...
December 2017: Georgian Medical News
https://www.readbyqxmd.com/read/29326173/transcriptional-regulator-zeb2-is-essential-for-bergmann-glia-development
#5
Li He, Kun Yu, Fanghui Lu, Jiajia Wang, Laiman N Wu, Chuntao Zhao, Qianmei Li, Xianyao Zhou, Hanmin Liu, Dezhi Mu, Mei Xin, Mengsheng Qiu, Q Richard Lu
Bergmann glia facilitate granule neuron migration during development and maintain the cerebellar organization and functional integrity. At present, molecular control of Bergmann glia specification from cerebellar radial glia is not fully understood. In this report, we show that Zeb2 (a.k.a. Sip1 or Zfhx1b), a Mowat-Wilson-syndrome-associated transcriptional regulator, is highly expressed in Bergmann glia, but hardly detectable in astrocytes in the cerebellum. The mice lacking Zeb2 in cerebellar radial glia exhibit severe deficits in Bergmann glia specification, and develop cerebellar cortical lamination dysgenesis and locomotion defects...
January 11, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29323665/arterial-tortuosity-syndrome-40-new-families-and-literature-review
#6
Aude Beyens, Juliette Albuisson, Annekatrien Boel, Mazen Al-Essa, Waheed Al-Manea, Damien Bonnet, Ozlem Bostan, Odile Boute, Tiffany Busa, Nathalie Canham, Ergun Cil, Paul J Coucke, Margot A Cousin, Majed Dasouki, Julie De Backer, Anne De Paepe, Sofie De Schepper, Deepthi De Silva, Koenraad Devriendt, Inge De Wandele, David R Deyle, Harry Dietz, Sophie Dupuis-Girod, Eudice Fontenot, Björn Fischer-Zirnsak, Alper Gezdirici, Jamal Ghoumid, Fabienne Giuliano, Neus Baena Diéz, Mohammed Z Haider, Joshua S Hardin, Xavier Jeunemaitre, Eric W Klee, Uwe Kornak, Manuel F Landecho, Anne Legrand, Bart Loeys, Stanislas Lyonnet, Helen Michael, Pamela Moceri, Shehla Mohammed, Laura Muiño-Mosquera, Sheela Nampoothiri, Karin Pichler, Katrina Prescott, Anna Rajeb, Maria Ramos-Arroyo, Massimiliano Rossi, Mustafa Salih, Mohammed Z Seidahmed, Elise Schaefer, Elisabeth Steichen-Gersdorf, Sehime Temel, Fahrettin Uysal, Marine Vanhomwegen, Lut Van Laer, Lionel Van Maldergem, David Warner, Andy Willaert, Tom R Collins, Andrea Taylor, Elaine C Davis, Yuri Zarate, Bert Callewaert
PurposeWe delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by mutations in SLC2A10.MethodsWe retrospectively characterized 40 novel ATS families (50 patients) and reviewed the 52 previously reported patients. We performed histology and electron microscopy (EM) on skin and vascular biopsies and evaluated TGF-β signaling with immunohistochemistry for pSMAD2 and CTGF...
January 11, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29317060/fibromyalgia-and-unexplained-widespread-pain-the-idiopathic-cerebrospinal-pressure-dysregulation-hypothesis
#7
M Hulens, W Dankaerts, I Stalmans, A Somers, G Vansant, R Rasschaert, F Bruyninckx
Fibromyalgia (FM) is a debilitating, widespread pain disorder that is assumed to originate from inappropriate pain processing in the central nervous system. Psychological and behavioral factors are both believed to underlie the pathogenesis and complicate the treatment. This hypothesis, however, has not yet been sufficiently supported by scientific evidence and accumulating evidence supports a peripheral neurological origin of the symptoms. We postulate that FM and several unexplained widespread pain syndromes are caused by chronic postural idiopathic cerebrospinal hypertension...
January 2018: Medical Hypotheses
https://www.readbyqxmd.com/read/29315608/clinical-and-research-strategies-for-limb-girdle-congenital-myasthenic-syndromes
#8
REVIEW
Emily O'Connor, Ana Töpf, René Zahedi, Sally Spendiff, Daniel Cox, Andreas Roos, Hanns Lochmüller
Congenital myasthenic syndromes (CMS) are a group of rare disorders that cause fatigable muscle weakness due to defective signal transmission at the neuromuscular junction, a specialized synapse between peripheral motor neurons and their target muscle fibers. There are now over 30 causative genes that have been reported for CMS. Of these, there are 10 that are associated with a limb-girdle pattern of muscle weakness and are thus classed as LG-CMS. Next-generation sequencing and advanced methods of data sharing are likely to uncover further genes that are associated with similar clinical phenotypes, contributing to better diagnosis and effective treatment of LG-CMS patients...
January 5, 2018: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/29315514/cytotoxic-edema-at-onset-in-west-syndrome-of-unknown-etiology-a-longitudinal-diffusion-tensor-imaging-study
#9
Chikako Ogawa, Hiroyuki Kidokoro, Tatsuya Fukasawa, Hiroyuki Yamamoto, Naoko Ishihara, Yuji Ito, Yoko Sakaguchi, Yu Okai, Atsuko Ohno, Tomohiko Nakata, Yoshiteru Azuma, Ayako Hattori, Tetsuo Kubota, Takeshi Tsuji, Akihiro Hirakawa, Hisashi Kawai, Jun Natsume
OBJECTIVE: To clarify longitudinal changes in white matter microstructures from the onset of disease in patients with West syndrome (WS) of unknown etiology. METHODS: Diffusion tensor imaging (DTI) was prospectively performed at onset and at 12 and 24 months old in 17 children with WS of unknown etiology. DTI was analyzed using tract-based spatial statistics (TBSS) and tract-specific analysis (TSA) of 13 fiber tracts, and fractional anisotropy (FA) and mean diffusivity (MD) were compared with those of 42 age-matched controls...
January 8, 2018: Epilepsia
https://www.readbyqxmd.com/read/29310369/mitochondrial-mutations-in-12s-rrna-and-16s-rrna-presenting-as-chronic-progressive-external-ophthalmoplegia-cpeo-plus-a-case-report
#10
Zhan-Yun Lv, Xue-Mei Xu, Xiao-Fu Cao, Qian Wang, Da-Fang Sun, Wen-Jing Tian, Yan Yang, Yu-Zhong Wang, Yan-Lei Hao
RATIONALE: Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterized by bilateral progressive ptosis and ophthalmoplegia. Kearns -Sayre syndrome (KSS) is a multisystem disorder with PEO, cardiac conduction block, and pigmentary retinopathy. A few individuals with CPEO have other manifestations of KSS, but do not meet all the clinical diagnosis criteria, and this is called "CPEO plus." PATIENT CONCERNS: We report a 48-year-old woman exhibiting limb weakness, ptosis, ophthalmoparesis, and cerebellar dysfunctions...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29298969/-dietetary-recommendation-for-non-alcoholic-fatty-liver-disease
#11
REVIEW
Anna Jeznach-Steinhagen, Joanna Ostrowska, Aneta Czerwonogrodzka-Senczyna, Iwona Boniecka, Wioletta Gronostajska
Non-alcoholic Fatty Liver Disease (NAFLD) is currently the most common chronic liver disease in the developed world. Nowadays, in the adult population of Europe it is estimated at 14% to 21%. Its most important risk factors are obesity and metabolic syndrome. Introducing lifestyle changes such as: dietary intervention and increased physical activity are the first-line treatment and are intended to support not only NAFLD but also associated diseases such as obesity, insulin resistance, diabetes and dyslipidemia...
December 22, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29297053/anatomical-wiring-and-functional-networking-changes-in-the-visual-system-following-optic-neuritis
#12
Yael Backner, Joseph Kuchling, Said Massarwa, Timm Oberwahrenbrock, Carsten Finke, Judith Bellmann-Strobl, Klemens Ruprecht, Alexander U Brandt, Hanna Zimmermann, Noa Raz, Friedemann Paul, Netta Levin
Importance: Clinical outcome in multiple sclerosis was suggested to be driven by not only remyelination but also adaptive reorganization. This mechanism needs to be further understood. Objective: To explore anatomical and functional visual networks in patients with optic neuritis (ON) to assess the relative weight of each connectivity modality to expedite visual recovery. Design, Setting, and Participants: Between March 11, 2011, and May 26, 2014, 39 patients with either clinically isolated syndrome (CIS) ON (n = 18) or other CIS (non-ON) (n = 21) were recruited 1 to 28 months following an initial clinical event...
January 2, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29288969/generation-of-an-induced-pluripotent-stem-cell-ipsc-line-from-a-40-year-old-patient-with-the-a8344g-mutation-of-mitochondrial-dna-and-merrf-myoclonic-epilepsy-with-ragged-red-fibers-syndrome
#13
Yu-Ting Wu, Yu-Hung Hsu, Ching-Ying Huang, Ming-Ching Ho, Yu-Che Cheng, Cheng-Hao Wen, Hui-Wen Ko, Huai-En Lu, Yen-Chun Chen, Chia-Ling Tsai, Yi-Chao Hsu, Yau-Huei Wei, Patrick C H Hsieh
Mitochondrial defects are associated with clinical manifestations from common diseases to rare genetic disorders. Myoclonus epilepsy associated with ragged-red fibers (MERRF) syndrome results from an A to G transition at nucleotide position 8344 in the tRNALys gene of mitochondrial DNA (mtDNA) and is characterized by myoclonus, myopathy and severe neurological symptoms. In this study, Sendai reprogramming method was used to generate an iPS cell line carrying the A8344G mutation of mtDNA from a MERRF patient...
December 19, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29286955/invisible-honeycomb-like-cavitary-retinal-astrocytic-hamartoma
#14
Phoebe L Mellen, Kareem Sioufi, Jerry A Shields, Carol L Shields
PURPOSE: To report a patient with clinically invisible retinal astrocytic hamartomas (RAHs) detected on optical coherence tomography (OCT) and studied with OCT angiography (OCTA). METHOD: Case report. RESULTS: An 11-year-old healthy girl was evaluated for reduced visual acuity in the right eye. On examination, best-corrected visual acuity was 20/50 in the right eye and 20/20 in the left eye. Fundus examination revealed blunted foveal reflex in the right eye and normal findings in the left eye...
December 28, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29280638/the-effects-of-a-high-protein-high-calorie-fiber-and-fructo-oligosaccharide-enriched-enteral-formula-on-nutritional-status-bowel-habits-and-tolerance-safety-and-effectiveness-of-enteral-nutrition-in-elderly-spanish-patients-sens-study
#15
Federico Miguel Cuesta Triana, Francisco Villazón González, Alejandro Sanz Paris, Juan Ignacio Ramos-Clemente Romero, José Enrique Palacio Abizanda, Rebeca Sanz Barriuso
BACKGROUND: Enteral nutrition (EN) is an effective nutritional intervention for patients at risk of malnutrition or malnourished. However, complications such as gastrointestinal intolerance, hyperglycemia or refeeding syndrome can be triggered by EN. AIM: To investigate the effects of a tube feeding formula (TFF) on patients' nutritional status, biochemical status, bowel habits and safety. METHODOLOGY: Observational, prospective and multicenter study...
October 27, 2017: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
https://www.readbyqxmd.com/read/29278531/nutritional-implications-of-dietary-interventions-for-managing-gastrointestinal-disorders
#16
Heidi M Staudacher, Matthew Kurien, Kevin Whelan
PURPOSE OF REVIEW: The aim of this review is to summarize some of the key dietary interventions recommended for common gastrointestinal disorders and to discuss recent evidence regarding their nutritional implications. RECENT FINDINGS: The gluten-free diet has been shown to negatively influence overall diet quality. The gluten-free diet is essential in celiac disease, although it is increasingly used for other perceived health benefits for which an analysis of perceived benefit should be weighed against any nutritional risks...
December 22, 2017: Current Opinion in Gastroenterology
https://www.readbyqxmd.com/read/29278406/dietary-fiber-and-metabolic-syndrome-a-meta-analysis-and-review-of-related-mechanisms
#17
REVIEW
Jia-Ping Chen, Guo-Chong Chen, Xiao-Ping Wang, Liqiang Qin, Yanjie Bai
(1) Background: Dietary fiber intake may provide beneficial effects on the components of metabolic syndrome (MetS); however, observational studies reported inconsistent results for the relationship between dietary fiber intake and MetS risk. We conducted a meta-analysis to quantify previous observational studies and a narrative review to summarize mechanisms involved in the potential relationship. (2) Methods: The literature was searched on PubMed and Web of Science until 28 November 2017. A random-effects model was used to calculate the summary risk estimates...
December 26, 2017: Nutrients
https://www.readbyqxmd.com/read/29276170/fiber-mediated-nourishment-of-gut-microbiota-protects-against-diet-induced-obesity-by-restoring-il-22-mediated-colonic-health
#18
Jun Zou, Benoit Chassaing, Vishal Singh, Michael Pellizzon, Matthew Ricci, Michael D Fythe, Matam Vijay Kumar, Andrew T Gewirtz
Dietary supplementation with fermentable fiber suppresses adiposity and the associated parameters of metabolic syndrome. Microbiota-generated fiber-derived short-chain fatty acids (SCFAs) and free fatty acid receptors including GPR43 are thought to mediate these effects. We find that while fermentable (inulin), but not insoluble (cellulose), fiber markedly protected mice against high-fat diet (HFD)-induced metabolic syndrome, the effect was not significantly impaired by either inhibiting SCFA production or genetic ablation of GPR43...
December 12, 2017: Cell Host & Microbe
https://www.readbyqxmd.com/read/29260496/evaluation-of-cntnap2-gene-rs2107856-polymorphism-in-turkish-population-with-pseudoexfoliation-syndrome
#19
Irmak Karaca, Suzan Guven Yilmaz, Melis Palamar, Huseyin Onay, Bilcag Akgun, Burcu Aytacoglu, Ayca Aykut, Feristah Ferda Ozkinay
PURPOSE: To investigate rs2107856 single-nucleotide polymorphism (SNP) of CNTNAP2 gene in Turkish population with pseudoexfoliation and to correlate clinical characteristics with the genotypic profile. MATERIALS AND METHODS: Forty-three patients with pseudoexfoliation syndrome (PXS), 46 patients with pseudoexfoliation glaucoma (PXG) and 99 healthy controls were enrolled. Comprehensive ophthalmological examination, central corneal thickness measurement and retinal nerve fiber layer thickness analysis of the peripapillary area were performed...
December 19, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/29260122/unusual-straatsma-syndrome-how-dogmatic-is-a-bad-prognosis
#20
Ana Vide-Escada, Helena Prior Filipe
Purpose: To show that Straatsma Syndrome can have a good outcome and to highlight an unusual presentation of this disease. Observations: A four-year-old boy presents with severe right eye amblyopia in association with high myopia, esotropia, heterochromia iridum and extensive myelinated retinal fibers involving both temporal arcades and the optic nerve head. Right eye initial visual acuity was less than 20/400 for distance and less than R6W10 for near. Left eye examination was unremarkable...
December 2017: American Journal of Ophthalmology Case Reports
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