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ARC syndrome

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https://www.readbyqxmd.com/read/28007512/-the-complex-phenotype-of-arc-syndrome-a-new-case
#1
A Giraud, F Ramond, C Cremillieux, R Touraine, H Patural, J-L Stephan
ARC syndrome (arthrogryposis - renal dysfunction - cholestasis) is a rare lethal multisystemic autosomal recessive disease. A newborn of consanguineous parents of Algerian descent presented cholestatic jaundice, dehydration, and Fanconi syndrome at 10 days of life. The blood smear showed a very characteristic gray appearance of platelets. A homozygous mutation was evidenced in the VPS33B gene. This gene codes for a protein involved in trafficking of intracellular vesicles. The mutation (c.604-2A>G) present in the heterozygous state in the parents affects an invariant base of the splice acceptor site and to our knowledge has not been reported yet...
December 19, 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28005950/cgg-repeats-in-the-5-utr-of-fmr1-rna-regulate-translation-of-other-rnas-localized-in-the-same-rna-granules
#2
René Rovozzo, George Korza, Mei W Baker, Meng Li, Anita Bhattacharyya, Elisa Barbarese, John H Carson
CGG repeats in the 5'UTR of Fragile X Mental Retardation 1 (FMR1) RNA mediate RNA localization and translation in granules. Large expansions of CGG repeats (> 200 repeats) in FMR1, referred to as full mutations, are associated with fragile X syndrome (FXS). Smaller expansions (55-200 repeats), referred to as premutations, are associated with fragile X tremor ataxia syndrome (FXTAS) and fragile X premature ovarian insufficiency (FXPOI). TMPyP4 is a porphyrin ring compound that destabilizes CGG repeat RNA secondary structure...
2016: PloS One
https://www.readbyqxmd.com/read/27995769/triad3-rnf216-mutations-associated-with-gordon-holmes-syndrome-lead-to-synaptic-and-cognitive-impairments-via-arc-misregulation
#3
Nilofer Husain, Qiang Yuan, Yi-Chun Yen, Olga Pletnikova, Dong Qianying Sally, Paul Worley, Zoë Bichler, H Shawn Je
Multiple loss-of-function mutations in TRIAD3 (a.k.a. RNF216) have recently been identified in patients suffering from Gordon Holmes syndrome (GHS), characterized by cognitive decline, dementia, and movement disorders. TRIAD3A is an E3 ubiquitin ligase that recognizes and facilitates the ubiquitination of its target for degradation by the ubiquitin-proteasome system (UPS). Here, we demonstrate that two of these missense substitutions in TRIAD3 (R660C and R694C) could not regulate the degradation of their neuronal target, activity-regulated cytoskeletal-associated protein (Arc/Arg 3...
December 20, 2016: Aging Cell
https://www.readbyqxmd.com/read/27983870/kisspeptin-in-the-hypothalamus-of-two-rat-models-of-polycystic-ovary-syndrome
#4
Satoko Osuka, Akira Iwase, Tatsuo Nakahara, Mika Kondo, Ai Saito, Bayasula, Tomoko Nakamura, Sachiko Takikawa, Maki Goto, Tomomi Kotani, Fumitaka Kikkawa
Hyperandrogenism, disturbance of the hypothalamus-pituitary-ovary axis followed by elevated serum luteinizing hormone (LH) levels, and insulin resistance are involved in the complicated pathophysiology of polycystic ovary syndrome (PCOS). Kisspeptin is co-expressed with neurokinin B (NKB) in the arcuate nucleus (ARC), the center of the gonadotropin-releasing hormone (GnRH)-pulse generator that is responsible for pulsatile LH secretion. We compared two androgenized rat models of PCOS to evaluate the estrous cycle, hormonal profiles, and expression of kisspeptin and NKB in the ARC...
December 16, 2016: Endocrinology
https://www.readbyqxmd.com/read/27973332/limitations-of-oct-in-identifying-and-quantifying-lipid-components-an-in-vivo-comparison-study-with-ivus-nirs
#5
Luca Di Vito, Fabrizio Imola, Laura Gatto, Enrico Romagnoli, Ugo Limbruno, Valeria Marco, Andrea Picchi, Antonio Micari, Mario Albertucci, Francesco Prati
AIMS: We assessed the agreement between IVUS-NIRS and OCT to assess lipid plaques in patients with acute coronary syndromes or stable angina. In addition, the impact of both macrophages and calcifications was investigated. METHODS AND RESULTS: Forty-three patients undergoing both IVUS-NIRS and OCT assessment of the culprit and/or non culprit coronary lesions were enrolled. Cross-sections from lipid plaques, calcified plaques and normal appearing vessel tracts were identified and matched with the two imaging techniques...
December 15, 2016: EuroIntervention
https://www.readbyqxmd.com/read/27966542/epilepsy-causing-sequence-variations-in-sik1-disrupt-synaptic-activity-response-gene-expression-and-affect-neuronal-morphology
#6
Christoph Pröschel, Jeanne N Hansen, Adil Ali, Emily Tuttle, Michelle Lacagnina, Georgia Buscaglia, Marc W Halterman, Alex R Paciorkowski
SIK1 syndrome is a newly described developmental epilepsy disorder caused by heterozygous mutations in the salt-inducible kinase SIK1. To better understand the pathophysiology of SIK1 syndrome, we studied the effects of SIK1 pathogenic sequence variations in human neurons. Primary human fetal cortical neurons were transfected with a lentiviral vector to overexpress wild-type and mutant SIK1 protein. We evaluated the transcriptional activity of known downstream gene targets in neurons expressing mutant SIK1 compared with wild type...
February 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27931246/increased-alternate-splicing-of-htr2c-in-a-mouse-model-for-prader-willi-syndrome-leads-disruption-of-5ht2c-receptor-mediated-appetite
#7
Alastair S Garfield, Jennifer R Davies, Luke K Burke, Hannah V Furby, Lawrence S Wilkinson, Lora K Heisler, Anthony R Isles
Alternate splicing of serotonin (5-hydroxytryptamine; 5-HT) 2C receptor (5-HT2CR) pre-RNA is negatively regulated by the small nucleolar RNA, Snord115, loss of which is observed in nearly all individuals with Prader-Willi Syndrome (PWS), a multigenic disorder characterised by hyperphagia and obesity. Given the role of the 5-HT2CR in the regulation of ingestive behaviour we investigated the pathophysiological implications of Snord115 deficiency on 5-HT2CR regulated appetite in a genotypically relevant PWS mouse model (PWS-IC)...
December 8, 2016: Molecular Brain
https://www.readbyqxmd.com/read/27912901/individualized-versus-conventional-ovarian-stimulation-for-in%C3%A2-vitro-fertilization-a-multicenter-randomized-controlled-assessor-blinded-phase-3-noninferiority-trial
#8
Anders Nyboe Andersen, Scott M Nelson, Bart C J M Fauser, Juan Antonio García-Velasco, Bjarke M Klein, Joan-Carles Arce
OBJECTIVE: To compare the efficacy and safety of follitropin delta, a new human recombinant FSH with individualized dosing based on serum antimüllerian hormone (AMH) and body weight, with conventional follitropin alfa dosing for ovarian stimulation in women undergoing IVF. DESIGN: Randomized, multicenter, assessor-blinded, noninferiority trial (ESTHER-1). SETTING: Reproductive medicine clinics. PATIENT(S): A total of 1,329 women (aged 18-40 years)...
November 22, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27890893/successful-coil-embolization-of-an-aneurysm-in-the-arc-of-b%C3%A3-hler
#9
Fumie Sugihara, Satoru Murata, Fumio Uchiyama, Jun Watari, Hiroto Tajima, Shin-Ichiro Kumita
In the present report, we describe a case of a patient with an asymptomatic aneurysm in the arc of Bühler (AOB), which was successfully treated by transcatheter arterial embolization. The patient presented with severe stenosis of the celiac trunk, which was suspected to be due to median arcuate ligament syndrome. Arteriography of the superior mesenteric artery indicated a rapid stream in an aneurysm in the AOB. Hence, embolization was carefully performed using detachable coils and microcoils. An arteriography performed after embolization did not show any aneurysm, and the hepatic artery and splenic artery could be detected via the pancreatic arcade, originating from the superior mesenteric artery...
2016: Journal of Nippon Medical School, Nippon Ika Daigaku Zasshi
https://www.readbyqxmd.com/read/27729116/msx1-gene-polymorphisms-in-mexican-patients-with-non-syndromic-cleft-lip-palate
#10
Aurora Ibarra-Arce, Tania Albavera-Giles, Beatriz Zavaleta-Villa, Gabriela Ortiz de Zárate-Alarcón, Laura Flores-Peña, María Del Carmen Sierra-Romero, Mirza Romero-Valdovinos, Angélica Olivo-Díaz
OBJECTIVE: Non-syndromic cleft lip/palate malformation (CL/P) is one of the most common birth defects in humans and has a complex etiology involving genetic and environmental factors. Mutations in the MSX1 gene are critical during craniofacial development. The purpose of this study was to investigate the contribution of MSX1 gene polymorphisms to the risk of developing CL/P in a sample of Mexican patients. METHODS: The sample consisted of 282 subjects (69 cases and 213 relatives)...
November 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27669829/chronic-intestinal-pseudo-obstruction-clinical-and-manometric-characteristics-in-the-chilean-population
#11
Edith Pérez de Arce, Glauben Landskron, Sandra Hirsch, Carlos Defilippi, Ana María Madrid
Background/Aims: Chronic intestinal pseudo-obstruction (CIPO) is a rare syndrome characterized by a failure of the propulsion of intraluminal content and recurrent symptoms of partial bowel obstruction in the absence of mechanical obstruction. Regional variations of the intestinal compromise have been described. Intestinal manometry can indicate the pathophysiology and prognosis. Our objective is to establish the demographic and clinical characteristics of group Chilean patients and analyze the motility of the small intestine and its prognostic value...
September 26, 2016: Journal of Neurogastroenterology and Motility
https://www.readbyqxmd.com/read/27667557/blood-brain-barrier-changes-in-high-altitude
#12
José V Lafuente, Garazi Bermudez, Lorena Camargo-Arce, Susana Bulnes
Cerebral syndromes related to high-altitude exposure are becoming more frequent as the number of trips to high altitudes has increased in the last decade. The commonest symptom is headache, followed by acute mountain sickness (AMS) and high-altitude cerebral edema (HACE), which can be fatal. The pathophysiology of these syndromes is not fully understood. The classical "tight-fit hypothesis" posits that there are some anatomical variations that would obstruct the sinovenous outflow and worsen vasogenic edema and intracranial hypertension reactive to hypoxia...
2016: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/27665725/kisspeptin-mrna-expression-is-increased-in-the-posterior-hypothalamus-in-the-rat-model-of-polycystic-ovary-syndrome
#13
Toshiya Matsuzaki, Altankhuu Tungalagsuvd, Takeshi Iwasa, Munkhsaikhan Munkhzaya, Rie Yanagihara, Takako Tokui, Kiyohito Yano, Yiliyasi Mayila, Takeshi Kato, Akira Kuwahara, Sumika Matsui, Minoru Irahara
Hypersecretion of luteinizing hormone (LH) is a common endocrinological finding of polycystic ovary syndrome (PCOS). This derangement might have a close relationship with hypothalamic kisspeptin expression that is thought to be a key regulator of gonadotropin-releasing hormone (GnRH). We evaluated the relationship between the hypothalamic-pituitary-gonadal axis (HPG axis) and kisspeptin using a rat model of PCOS induced by letrozole. Letrozole pellets (0.4 mg/day) and control pellets were placed subcutaneously onto the backs of 3-week-old female Wistar rats...
September 24, 2016: Endocrine Journal
https://www.readbyqxmd.com/read/27660560/a-kindler-syndrome-associated-squamous-cell-carcinoma-treated-with-radiotherapy
#14
Ademar Caldeira, William Correia Trinca, Thais Pires Flores, Andrea Barleze Costa, Claudio de Sá Brito, Karen Loureiro Weigert, Maryana Schwartzhaupt Matos, Carmela Nicolini, Fernando Mariano Obst
Kindler syndrome1, 2 is a genetic disorder mainly characterized by increased skin fragility and photosensitivity,3, 4 making the use of treatments based on radiation difficult or even prohibited. Thus, cases reporting Kindler syndrome patients treated with radiotherapy are rare. In this study, we report clinical outcomes and care provided for a rare case of a Kindler syndrome patient submitted to radiotherapy. Diagnosed with squamous cell carcinoma involving the buccal mucosa, the patient was exclusively treated with radiotherapy, with 70 Gy delivered on the PTV with the Volumetric Modulated Arc technique...
November 2016: Reports of Practical Oncology and Radiotherapy
https://www.readbyqxmd.com/read/27638073/acute-unilateral-loss-of-vestibular-function
#15
M Fetter
Sudden unilateral loss of vestibular function is the most severe condition that can occur in the vestibular system. The clinical syndrome is caused by the physiologic properties of the vestibulo-ocular reflex (VOR) arc. In the normal situation, the two peripheral vestibular end organs are connected to a functional unit in coplanar pairs of semicircular canals working in a push-pull mode. "Push-pull" mode means that, when one side is excited, the other side is inhibited, and vice versa due to two mechanisms...
2016: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/27598274/-parasitosis-and-irritable-bowel-syndrome
#16
REVIEW
Catalina Ibarra, Valentina Herrera, Edith Pérez de Arce, Luis Carlos Gil, Ana María Madrid, Lucía Valenzuela, Caroll J Beltrán
Irritable bowel syndrome (IBS) is a functional disorder of the gastrointestinal tract characterised by multi-factorial aetiology. In IBS physiopathology are involved diverse factors between them biological, psychosocial, and environmental components which affect the immune activation status of gut mucosa. Among these factors is recognized the intestinal parasitosis. Post-infection IBS (PI-IBS) is recognised as a subgroup of functional disorders whose symptoms onset appear after a symptomatic intestinal infection caused by microbial agents...
June 2016: Revista Chilena de Infectología: órgano Oficial de la Sociedad Chilena de Infectología
https://www.readbyqxmd.com/read/27594946/lessons-learned-from-a-case-of-multivessel-median-arcuate-ligament-syndrome-in-the-setting-of-an-arc-of-buhler
#17
Kevin O'Brien, Hector Ferral
The median arcuate ligament (MAL) can rarely compress both the celiac axis and superior mesenteric artery. We present a case of a 70-year male who presented with isolated episodes of upper abdominal pain and diarrhea associated with sweats and nausea. Angiography images demonstrated complete occlusion of the celiac axis and compression of the superior mesenteric artery during the expiration phases. The celiac axis was reconstituted distal to its origin by a patent Arc of Buhler. Other reported cases of multivessel MALs have produced severe symptoms in young adults requiring surgical and/or endovascular intervention...
September 2016: Radiology case reports
https://www.readbyqxmd.com/read/27586007/the-absence-of-5-ht4-receptors-modulates-depression-and-anxiety-like-responses-and-influences-the-response-of-fluoxetine-in-olfactory-bulbectomised-mice-adaptive-changes-in-hippocampal-neuroplasticity-markers-and-5-ht1a-autoreceptor
#18
J Amigó, A Díaz, F Pilar-Cuéllar, R Vidal, A Martín, V Compan, A Pazos, E Castro
Preclinical studies support a critical role of 5-HT4 receptors (5-HT4Rs) in depression and anxiety, but their influence in depression- and anxiety-like behaviours and the effects of antidepressants remain partly unknown. We evaluated 5-HT4R knockout (KO) mice in different anxiety and depression paradigms and mRNA expression of some neuroplasticity markers (BDNF, trkB and Arc) and the functionality of 5-HT1AR. Moreover, the implication of 5-HT4Rs in the behavioural and molecular effects of chronically administered fluoxetine was assessed in naïve and olfactory bulbectomized mice (OBX) of both genotypes...
December 2016: Neuropharmacology
https://www.readbyqxmd.com/read/27567735/retrospective-4d-mr-image-construction-from-free-breathing-slice-acquisitions-a-novel-graph-based-approach
#19
Yubing Tong, Jayaram K Udupa, Krzysztof C Ciesielski, Caiyun Wu, Joseph M McDonough, David A Mong, Robert M Campbell
PURPOSE: Dynamic or 4D imaging of the thorax has many applications. Both prospective and retrospective respiratory gating and tracking techniques have been developed for 4D imaging via CT and MRI. For pediatric imaging, due to radiation concerns, MRI becomes the de facto modality of choice. In thoracic insufficiency syndrome (TIS), patients often suffer from extreme malformations of the chest wall, diaphragm, and/or spine with inability of the thorax to support normal respiration or lung growth (Campbell et al...
January 2017: Medical Image Analysis
https://www.readbyqxmd.com/read/27511975/sex-differences-in-nonculprit-coronary-plaque-microstructures-on-frequency-domain-optical-coherence-tomography-in-acute-coronary-syndromes-and-stable-coronary-artery-disease
#20
Yu Kataoka, Rishi Puri, Muhammad Hammadah, Bhanu Duggal, Kiyoko Uno, Samir R Kapadia, E Murat Tuzcu, Steven E Nissen, Peta King, Stephen J Nicholls
BACKGROUND: Numerous reports suggest sex-related differences in atherosclerosis. Frequency-domain optical coherence tomography has enabled visualization of plaque microstructures associated with disease instability. The prevalence of plaque microstructures between sexes has not been characterized. We investigated sex differences in plaque features in patients with coronary artery disease. METHODS AND RESULTS: Nonculprit plaques on frequency-domain optical coherence tomography imaging were compared between men and women with either stable coronary artery disease (n=320) or acute coronary syndromes (n=115)...
August 2016: Circulation. Cardiovascular Imaging
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