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https://www.readbyqxmd.com/read/29217415/arima-syndrome-caused-by-cep290-specific-variant-and-accompanied-with-pathological-cilium-clinical-comparison-with-joubert-syndrome-and-its-related-diseases
#1
Masayuki Itoh, Shuhei Ide, Yuji Iwasaki, Takashi Saito, Keishi Narita, Hongmei Dai, Shinji Yamakura, Takeki Furue, Hirotsugu Kitayama, Keiko Maeda, Eihiko Takahashi, Kiyoshi Matsui, Yu-Ichi Goto, Sen Takeda, Masataka Arima
OBJECTIVE: Arima syndrome (AS) is a rare disease and its clinical features mimic those of Joubert syndrome or Joubert syndrome-related diseases (JSRD). Recently, we clarified the AS diagnostic criteria and its severe phenotype. However, genetic evidence of AS remains unknown. We explored causative genes of AS and compared the clinical and genetic features of AS with the other JSRD. PATIENTS AND METHODS: We performed genetic analyses of 4 AS patients of 3 families with combination of whole-exome sequencing and Sanger sequencing...
December 4, 2017: Brain & Development
https://www.readbyqxmd.com/read/29209597/meckel-gruber-syndrome-an-update-on-diagnosis-clinical-management-and-research-advances
#2
REVIEW
Verity Hartill, Katarzyna Szymanska, Saghira Malik Sharif, Gabrielle Wheway, Colin A Johnson
Meckel-Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly syndrome caused by mutations in genes encoding proteins that are structural or functional components of the primary cilium. Conditions that are caused by mutations in ciliary genes are collectively termed the ciliopathies, and MKS represents the most severe condition in this group of disorders. The primary cilium is a microtubule-based organelle, projecting from the apical surface of vertebrate cells. It acts as an "antenna" that receives and transduces chemosensory and mechanosensory signals, but also regulates diverse signaling pathways, such as Wnt and Shh, that have important roles during embryonic development...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29208045/joubert-s-syndrome-and-related-disorders-and-home-based-peritoneal-dialysis-in-east-africa-a-case-report
#3
Grace M Musiime, Doris M W Kinuthia, Donald P Oyatsi, Wangui Manguyu
BACKGROUND: Joubert's syndrome is a rare condition affecting an estimated 1:80,000-1:100,000 individuals. There is underdevelopment of the cerebellar vermis resulting in a characteristic molar tooth sign on cross sectional axial magnetic resonance imaging. It can occur in association with multi-organ involvement; in such cases it is classified as Joubert's syndrome and related disorders. To date, there are no cases of Joubert's syndrome and related disorders from sub-Saharan Africa described in the literature...
December 6, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29192144/downregulation-of-myostatin-pathway-in-neuromuscular-diseases-may-explain-challenges-of-anti-myostatin-therapeutic-approaches
#4
Virginie Mariot, Romain Joubert, Christophe Hourdé, Léonard Féasson, Michael Hanna, Francesco Muntoni, Thierry Maisonobe, Laurent Servais, Caroline Bogni, Rozen Le Panse, Olivier Benvensite, Tanya Stojkovic, Pedro M Machado, Thomas Voit, Ana Buj-Bello, Julie Dumonceaux
Muscular dystrophies are characterized by weakness and wasting of skeletal muscle tissues. Several drugs targeting the myostatin pathway have been used in clinical trials to increase muscle mass and function but most showed limited efficacy. Here we show that the expression of components of the myostatin signaling pathway is downregulated in muscle wasting or atrophying diseases, with a decrease of myostatin and activin receptor, and an increase of the myostatin antagonist, follistatin. We also provide in vivo evidence in the congenital myotubular myopathy mouse model (knock-out for the myotubularin coding gene Mtm1) that a down-regulated myostatin pathway can be reactivated by correcting the underlying gene defect...
November 30, 2017: Nature Communications
https://www.readbyqxmd.com/read/29191953/surfactant-protein-d-is-a-causal-risk-factor-for-copd-results-of-mendelian-randomisation
#5
Ma'en Obeidat, Xuan Li, Stephen Burgess, Guohai Zhou, Nick Fishbane, Nadia N Hansel, Yohan Bossé, Philippe Joubert, Ke Hao, David C Nickle, Maarten van den Berge, Wim Timens, Michael H Cho, Brian D Hobbs, Kim de Jong, Marike Boezen, Rayjean J Hung, Nicholas Rafaels, Rasika Mathias, Ingo Ruczinski, Terri H Beaty, Kathleen C Barnes, Peter D Paré, Don D Sin
Surfactant protein D (SP-D) is produced primarily in the lung and is involved in regulating pulmonary surfactants, lipid homeostasis and innate immunity. Circulating SP-D levels in blood are associated with chronic obstructive pulmonary disease (COPD), although causality remains elusive.In 4061 subjects with COPD, we identified genetic variants associated with serum SP-D levels. We then determined whether these variants affected lung tissue gene expression in 1037 individuals. A Mendelian randomisation framework was then applied, whereby serum SP-D-associated variants were tested for association with COPD risk in 11 157 cases and 36 699 controls and with 11 years decline of lung function in the 4061 individuals...
November 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/29185491/observability-of-complex-systems-finding-the-gap
#6
J D Stigter, D Joubert, J Molenaar
For a reconstruction of state and parameter values in a dynamic system model, first the question whether these values can be uniquely determined from the data must be answered. This structural model property is known as observability or, in case of parameter calibration only, identifiability. Testing a given model for observability is a well studied problem in the systems and control sciences. However, it is increasingly difficult, if not impossible, to address this property for large size models that, nowadays, are frequently used...
November 29, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29174479/practical-implementation-education-and-interpretation-guidelines-for-continuous-glucose-monitoring-a-french-position-statement
#7
S Borot, P Y Benhamou, C Atlan, E Bismuth, E Bonnemaison, B Catargi, G Charpentier, A Farret, N Filhol, S Franc, D Gouet, B Guerci, I Guilhem, C Guillot, N Jeandidier, M Joubert, V Melki, E Merlen, A Penfornis, S Picard, E Renard, Y Reznik, J P Riveline, S Rudoni, P Schaepelynck, A Sola-Gazagnes, N Tubiana-Rufi, O Verier-Mine, H Hanaire
The use by diabetes patients of real-time continuous interstitial glucose monitoring (CGM) or the FreeStyle Libre® (FSL) flash glucose monitoring (FGM) system is becoming widespread and has changed diabetic practice. The working group bringing together a number of French experts has proposed the present practical consensus. Training of professionals and patient education are crucial for the success of CGM. Also, institutional recommendations must pay particular attention to the indications for and reimbursement of CGM devices in populations at risk of hypoglycaemia...
November 11, 2017: Diabetes & Metabolism
https://www.readbyqxmd.com/read/29171785/regulation-of-rna-polymerase-iii-transcription-during-transformation-of-human-imr90-fibroblasts-with-defined-genetic-elements
#8
Stéphanie Durrieu-Gaillard, Hélène Dumay-Odelot, Galina Boldina, Nicolas J Tourasse, Delphine Allard, Fabrice André, Françoise Macari, Armelle Choquet, Pauline Lagarde, Guillaume Drutel, Thierry Leste-Lasserre, Marion Petitet, Tom Lesluyes, Lydia Lartigue-Faustin, Jean-William Dupuy, Frédéric Chibon, Robert G Roeder, Dominique Joubert, Stéphan Vagner, Martin Teichmann
RNA polymerase (Pol) III transcribes small untranslated RNAs that are essential for cellular homeostasis and growth. Its activity is regulated by inactivation of tumor suppressor proteins and overexpression of the oncogene c-MYC, but the concerted action of these tumor-promoting factors on Pol III transcription has not yet been assessed. In order to comprehensively analyse the regulation of Pol III transcription during tumorigenesis we employ a model system that relies on the expression of five genetic elements to achieve cellular transformation...
November 24, 2017: Cell Cycle
https://www.readbyqxmd.com/read/29170386/glucocorticoid-induced-phosphorylation-by-cdk9-modulates-the-coactivator-functions-of-transcriptional-cofactor-grip1-in-macrophages
#9
David A Rollins, Joubert B Kharlyngdoh, Maddalena Coppo, Bowranigan Tharmalingam, Sanda Mimouna, Ziyi Guo, Maria A Sacta, Miles A Pufall, Robert P Fisher, Xiaoyu Hu, Yurii Chinenov, Inez Rogatsky
The glucocorticoid (GC) receptor (GR) suppresses inflammation by activating anti-inflammatory and repressing pro-inflammatory genes. GR-interacting protein-1 (GRIP1) is a GR corepressor in macrophages, however, whether GRIP1 mediates GR-activated transcription, and what dictates its coactivator versus corepressor properties is unknown. Here we report that GRIP1 loss in macrophages attenuates glucocorticoid induction of several anti-inflammatory targets, and that GC treatment of quiescent macrophages globally directs GRIP1 toward GR binding sites dominated by palindromic GC response elements (GRE), suggesting a non-redundant GRIP1 function as a GR coactivator...
November 23, 2017: Nature Communications
https://www.readbyqxmd.com/read/29168179/phenolic-and-physicochemical-stability-of-a-functional-beverage-powder-mixture-during-storage-effect-of-the-microencapsulant-inulin-and-food-ingredients
#10
Dalene de Beer, Claire E Pauck, Marique Aucamp, Wilna Liebenberg, Nicole Stieger, Marieta van der Rijst, Elizabeth Joubert
BACKGROUND: The need for a convenience herbal iced tea product with reduced kilojoules merited investigation of the shelf-life of powder mixtures containing a green Cyclopia subternata Vogel (honeybush) extract with proven blood glucose-lowering activity and alternative sweetener mixture. RESULTS: Prior to long-term storage testing, the wettability of powder mixtures containing food ingredients and the compatibility of their components were confirmed using the static sessile drop method and isothermal microcalorimetry, respectively...
November 23, 2017: Journal of the Science of Food and Agriculture
https://www.readbyqxmd.com/read/29167080/psychosocial-care-models-for-families-of-critically-ill-children-in-pediatric-emergency-department-settings-a-scoping-review
#11
Alys-Marie Manguy, Lynette Joubert, Ed Oakley, Rob Gordon
PROBLEM: Critical illness in children is a significant and stressful life event for families. Within pediatric emergency department (ED) settings it is acknowledged that these crises are challenging for both the families of these children, and for the clinical staff treating the child. Literature recommends routine care should include an offer to the family to be present with their critically ill child, however there is a lack of clarity regarding specific family care models or evidence-based interventions to guide clinical practice...
October 26, 2017: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/29165845/wolbachia-infection-alters-the-relative-abundance-of-resident-bacteria-in-adult-aedes-aegypti-mosquitoes-but-not-larvae
#12
Michelle D Audsley, Andrei Seleznev, D Albert Joubert, Megan Woolfit, Scott L O'Neill, Elizabeth A McGraw
Insect-symbiont interactions are known to play key roles in host functions and fitness. The common insect endosymbiont Wolbachia can reduce the ability of several human pathogens, including arboviruses and the malaria parasite, to replicate in insect hosts. Wolbachia does not naturally infect Aedes aegypti, the primary vector of dengue virus, but transinfected Ae. aegypti have anti-dengue virus properties and are currently being trialled as a dengue biocontrol strategy. Here, we assess the impact of Wolbachia infection of Ae...
November 22, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/29159890/whole-exome-sequencing-reveals-a-mutation-in-armc9-as-a-cause-of-mental-retardation-ptosis-and-polydactyly
#13
Anjana Kar, Shubha R Phadke, Aneek Das Bhowmik, Ashwin Dalal
Intellectual disability (ID) refers to deficits in mental abilities, social behavior, and motor skills to perform activities of daily living as compared to peers. Numerous genetic and environmental factors may be responsible for ID. We report on elucidation of molecular basis for syndromic ID associated with ptosis, polydactyly, and MRI features suggestive of Joubert syndrome using homozygosity mapping followed by exome sequencing. The analysis revealed a novel synonymous variation p.T293T (c.879G>A) which leads to a splicing defect in ARMC9 gene...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29146704/prospective-evaluation-of-kidney-disease-in-joubert-syndrome
#14
Leah R Fleming, Daniel A Doherty, Melissa A Parisi, Ian A Glass, Joy Bryant, Roxanne Fischer, Baris Turkbey, Peter Choyke, Kailash Daryanani, Meghana Vemulapalli, James C Mullikin, May Christine Malicdan, Thierry Vilboux, John A Sayer, William A Gahl, Meral Gunay-Aygun
BACKGROUND AND OBJECTIVES: Joubert syndrome is a genetically heterogeneous ciliopathy associated with >30 genes. The characteristics of kidney disease and genotype-phenotype correlations have not been evaluated in a large cohort at a single center. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We evaluated 97 individuals with Joubert syndrome at the National Institutes of Health Clinical Center using abdominal ultrasonography, blood and urine chemistries, and DNA sequencing...
November 16, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29138705/physiotherapy-and-rehabilitation-in-a-child-with-joubert-syndrome
#15
Özge İpek, Özge Akyolcu, Banu Bayar
Objective: Joubert syndrome (JS) is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. The purpose of this study was to report the efficiency of the physiotherapy and rehabilitation program in a child with JS. Materials and Methods: Our case is a 19-month-old female child with mild clinical signs of JS. The pretreatment and posttreatment motor functioning level of the case was evaluated through the Gross Motor Function Measure (GMFM), whereas the independence level was evaluated through the Pediatric Functional Independence Measure (WeeFIM)...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29138472/functional-characterization-of-the-ucp1-associated-oxidative-phenotype-of-human-epicardial-adipose-tissue
#16
Kanta Chechi, Pierre Voisine, Patrick Mathieu, Mathieu Laplante, Sébastian Bonnet, Frédéric Picard, Philippe Joubert, Denis Richard
Brown fat presence and metabolic activity has been associated with lower body mass index, higher insulin sensitivity and better cardiometabolic profile in humans. We, and others, have previously reported the presence of Ucp1, a marker of brown adipocytes, in human epicardial adipose tissue (eAT). Characterization of the metabolic activity and associated physiological relevance of Ucp1 within eAT, however, is still awaited. Here, we validate the presence of Ucp1 within human eAT and its 'beige' nature. Using in-vitro analytical approaches, we further characterize its thermogenic potential and demonstrate that human eAT is capable of undergoing enhanced uncoupling respiration upon stimulation...
November 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29138412/novel-kiaa0753-mutations-extend-the-phenotype-of-skeletal-ciliopathies
#17
A Hammarsjö, Z Wang, R Vaz, F Taylan, M Sedghi, K M Girisha, D Chitayat, K Neethukrishna, P Shannon, R Godoy, K Gowrishankar, A Lindstrand, J Nasiri, M Baktashian, P T Newton, L Guo, W Hofmeister, M Pettersson, A S Chagin, G Nishimura, L Yan, N Matsumoto, A Nordgren, N Miyake, G Grigelioniene, S Ikegawa
The skeletal ciliopathies are a heterogeneous group of disorders with a significant clinical and genetic variability and the main clinical features are thoracic hypoplasia and short tubular bones. To date, 25 genes have been identified in association with skeletal ciliopathies. Mutations in the KIAA0753 gene have recently been associated with Joubert syndrome (JBTS) and orofaciodigital (OFD) syndrome. We report biallelic pathogenic variants in KIAA0753 in four patients with short-rib type skeletal dysplasia...
November 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29136352/cover-image-volume-173a-number-12-december-2017
#18
Isabel Hardee, Ariane Soldatos, Mariska Davids, Thierry Vilboux, Camilo Toro, Karen L David, Carlos R Ferreira, Michele Nehrebecky, Joseph Snow, Audrey Thurm, Theo Heller, Ellen F Macnamara, Meral Gunay-Aygun, Wadih M Zein, William A Gahl, May Christine V Malicdan
The cover image, by Isabel Hardee et al., is based on the Clinical Report Defective ciliogenesis in INPP5E-related Joubert syndrome, DOI: 10.1002/ajmg.a.38376. Design Credit: Darryl Leja.
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29118670/an-overview-of-the-role-of-platelets-in-angiogenesis-apoptosis-and-autophagy-in-chronic-myeloid-leukaemia
#19
REVIEW
Lisa Repsold, Roger Pool, Mohammed Karodia, Gregory Tintinger, Annie Margaretha Joubert
Amongst males, leukaemia is the most common cause of cancer-related death in individuals younger than 40 years of age whereas in female children and adolescents, leukaemia is the most common cause of cancer-related death. Chronic myeloid leukaemia (CML) is a chronic leukaemia of the haematopoietic stem cells affecting mostly adults. The disease results from a translocation of the Philadelphia chromosome in stem cells of the bone marrow. CML patients usually present with mild to moderate anaemia and with decreased, normal, or increased platelet counts...
2017: Cancer Cell International
https://www.readbyqxmd.com/read/29113036/in-class-cycling-to-augment-college-student-academic-performance-and-reduce-physical-inactivity-results-from-an-rct
#20
Lanae Joubert, Matthew Kilgas, Alexandrea Riley, Yuba Gautam, Lars Donath, Scott Drum
Most college students sit 14 hours per week on average, excluding sedentary study time. Researchers observing workplace and elementary school settings with active workstations to combat sedentary behavior have shown enhanced cognition without distraction. Until now, incorporating active workstations in college classroom settings remained relatively unexplored. This study's purpose was to assess academic performance using in-class stationary cycle desks during a semester-long lecture course. Twenty-one college students (19-24 years) enrolled in a lecture course volunteered and were split into traditional sit (SIT) and stationary cycle (CYC) groups randomly, matched on a calculated factor equal to a physical activity (PA) score (0-680) multiplied by grade point average (GPA; 4...
November 4, 2017: International Journal of Environmental Research and Public Health
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