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Juvenile diabetes

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https://www.readbyqxmd.com/read/29687155/takayasu-arteritis-in-childhood-misdiagnoses-at-disease-onset-and-associated-diseases
#1
Gleice Clemente, Clovis A Silva, Silvana B Sacchetti, Virginia P L Ferriani, Sheila K Oliveira, Flavio Sztajnbok, Blanca E R G Bica, André Cavalcanti, Teresa Robazzi, Marcia Bandeira, Maria Teresa Terreri
Juvenile-Takayasu arteritis (j-TA) is a difficult diagnosis and some patients develop uncommon manifestations and associated diseases that may contribute to the delayed diagnosis. Our aim was to identify the misdiagnoses, the associated diseases and the atypical manifestations observed in a j-TA Brazilian multicentre study. 71 children and adolescents who met the classification criteria for j-TA were included. The misdiagnoses, the associated diseases and the atypical manifestations were evaluated. 19 (26.8%) patients had misdiagnoses...
April 23, 2018: Rheumatology International
https://www.readbyqxmd.com/read/29686977/a-prototype-exercise-empowerment-mobile-video-game-for-children-with-cancer-and-its-usability-assessment-developing-digital-empowerment-interventions-for-pediatric-diseases
#2
Carol S Bruggers, Sabrina Baranowski, Mathew Beseris, Rachel Leonard, Derek Long, Elizabeth Schulte, Ashton Shorter, Rowan Stigner, Clinton C Mason, Alisa Bedrov, Ian Pascual, Grzegorz Bulaj
Background: Medical advances continue to improve morbidity and mortality of serious pediatric diseases, including cancer, driving research addressing diminished physical and psychological quality of life in children with these chronic conditions. Empowerment enhances resilience and positively influences health, disease, and therapy understanding. We describe the development and usability assessment of a prototype Empower Stars! mobile video game grounded in behavioral and exercise theories with the purpose of coupling physical exercise with empowerment over disease in children with cancer...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29671962/glycemic-control-is-related-to-cognitive-dysfunction-in-chinese-children-with-type-1-diabetes-mellitus
#3
Jing He, Shichen Li, Fang Liu, Hong Zheng, Xiang Yan, Yuting Xie, Xia Li, Zhiguang Zhou, Xiongzhao Zhu
BACKGROUND: Type 1 diabetes mellitus (T1DM) type 1 diabetes is considered to be a risk factor for developing cognitive difficulties. The present study examined if Chinese children with T1DM differ in cognitive performance from healthy control (HC) children, and whether cognitive dysfunction is related to glycemic control. METHODS: Using a cross-sectional design, we administered cognitive tests, including general intelligence tests, to pediatric T1DM patients (N = 105) and HC participants (N = 90)...
April 19, 2018: Journal of Diabetes
https://www.readbyqxmd.com/read/29666474/the-cisd-gene-family-regulates-physiological-germline-apoptosis-through-ced-13-and-the-canonical-cell-death-pathway-in-caenorhabditis-elegans
#4
Skylar D King, Chipo F Gray, Luhua Song, Rachel Nechushtai, Tina L Gumienny, Ron Mittler, Pamela A Padilla
Programmed cell death, which occurs through a conserved core molecular pathway, is important for fundamental developmental and homeostatic processes. The human iron-sulfur binding protein NAF-1/CISD2 binds to Bcl-2 and its disruption in cells leads to an increase in apoptosis. Other members of the CDGSH iron sulfur domain (CISD) family include mitoNEET/CISD1 and Miner2/CISD3. In humans, mutations in CISD2 result in Wolfram syndrome 2, a disease in which the patients display juvenile diabetes, neuropsychiatric disorders and defective platelet aggregation...
April 17, 2018: Cell Death and Differentiation
https://www.readbyqxmd.com/read/29662164/transcription-factors-operate-across-disease-loci-with-ebna2-implicated-in-autoimmunity
#5
John B Harley, Xiaoting Chen, Mario Pujato, Daniel Miller, Avery Maddox, Carmy Forney, Albert F Magnusen, Arthur Lynch, Kashish Chetal, Masashi Yukawa, Artem Barski, Nathan Salomonis, Kenneth M Kaufman, Leah C Kottyan, Matthew T Weirauch
Explaining the genetics of many diseases is challenging because most associations localize to incompletely characterized regulatory regions. Using new computational methods, we show that transcription factors (TFs) occupy multiple loci associated with individual complex genetic disorders. Application to 213 phenotypes and 1,544 TF binding datasets identified 2,264 relationships between hundreds of TFs and 94 phenotypes, including androgen receptor in prostate cancer and GATA3 in breast cancer. Strikingly, nearly half of systemic lupus erythematosus risk loci are occupied by the Epstein-Barr virus EBNA2 protein and many coclustering human TFs, showing gene-environment interaction...
April 16, 2018: Nature Genetics
https://www.readbyqxmd.com/read/29614340/maternal-lipopolysaccharide-exposure-results-in-glucose-metabolism-disorders-and-sex-hormone-imbalance-in-male-offspring
#6
Mei Zhao, Li Yuan, Man-Man Yuan, Li-Li Huang, Chang Su, Yuan-Hua Chen, Yu-Ying Yang, Yan Hu, De-Xiang Xu
An adverse intrauterine environment may be an important factor contributing to the development of type 2 diabetes in later life. The present study investigated the longitudinal effects of maternal lipopolysaccharide (LPS) exposure during the third trimester on glucose metabolism and sex hormone balance in the offspring. Pregnant mice were intraperitoneally injected with LPS (50 μg/kg) daily from gestational day (GD) 15 to GD17. Glucose tolerance test (GTT) and insulin tolerance test (ITT) were assessed at postnatal day (PND) 60 and PND120...
March 31, 2018: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/29610677/potential-association-of-lmna-associated-generalized-lipodystrophy-with-juvenile-dermatomyositis
#7
Melis Sahinoz, Shafaq Khairi, Ashley Cuttitta, Graham F Brady, Amit Rupani, Rasimcan Meral, Marwan K Tayeh, Peedikayil Thomas, Meredith Riebschleger, Sandra Camelo-Piragua, Jeffrey W Innis, M Bishr Omary, Daniel E Michele, Elif A Oral
Background: Juvenile dermatomyositis (JDM) is an auto-immune muscle disease which presents with skin manifestations and muscle weakness. At least 10% of the patients with JDM present with acquired lipodystrophy. Laminopathies are caused by mutations in the lamin genes and cover a wide spectrum of diseases including muscular dystrophies and lipodystrophy. The p.T10I LMNA variant is associated with a phenotype of generalized lipodystrophy that has also been called atypical progeroid syndrome...
2018: Clinical Diabetes and Endocrinology
https://www.readbyqxmd.com/read/29593130/nonhuman-primate-breath-volatile-organic-compounds-associate-with-developmental-programming-and-cardio-metabolic-status
#8
Andrew C Bishop, Mark Libardoni, Ahsan Choudary, Biswapriya Biswavas Misra, Kenneth Lange, John Bernal, Mark Nijland, Cun Li, Michael Olivier, Peter W Nathanielsz, Laura A Cox
Rodent and nonhuman primate (NHP) studies indicate that developmental programming by reduced perinatal nutrition negatively impacts life course cardio-metabolic health. We have developed a baboon model in which we feed control mothers (CON) ad libitum while nutrient restricted mothers are fed 70% of ad libitum global feed in pregnancy and lactation. Offspring of nutrient restricted mothers are intrauterine growth restricted (IUGR) at term. By 3.5 years IUGR baboons showed signs of insulin resistance, indicating a pre-diabetic phenotype, in contrast to healthy CON offspring...
March 29, 2018: Journal of Breath Research
https://www.readbyqxmd.com/read/29580563/predictors-of-health-related-quality-of-life-in-chronically-ill-children-and-adolescents-over-time
#9
D Barthel, U Ravens-Sieberer, S Nolte, U Thyen, M Klein, O Walter, A-K Meyrose, M Rose, C Otto
OBJECTIVE: This study aims at identifying predictors of generic health-related quality of life (HRQoL) in chronically ill children and adolescents over time. The newly developed computer-adaptive test Kids-CAT was used to assess five dimensions of HRQoL. METHODS: Longitudinal data from the Kids-CAT study on children and adolescents with asthma, diabetes and juvenile arthritis (n = 248; aged 7-17 years) were assessed at three measurement points over six months...
March 14, 2018: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/29563329/deficiency-of-immunoregulatory-indoleamine-2-3-dioxygenase-1in-juvenile-diabetes
#10
Ciriana Orabona, Giada Mondanelli, Maria T Pallotta, Agostinho Carvalho, Elisa Albini, Francesca Fallarino, Carmine Vacca, Claudia Volpi, Maria L Belladonna, Maria G Berioli, Giulia Ceccarini, Susanna Mr Esposito, Raffaella Scattoni, Alberto Verrotti, Alessandra Ferretti, Giovanni De Giorgi, Sonia Toni, Marco Cappa, Maria C Matteoli, Roberta Bianchi, Davide Matino, Alberta Iacono, Matteo Puccetti, Cristina Cunha, Silvio Bicciato, Cinzia Antognelli, Vincenzo N Talesa, Lucienne Chatenoud, Dietmar Fuchs, Luc Pilotte, Benoît Van den Eynde, Manuel C Lemos, Luigina Romani, Paolo Puccetti, Ursula Grohmann
A defect in indoleamine 2,3-dioxygenase 1 (IDO1), which is responsible for immunoregulatory tryptophan catabolism, impairs development of immune tolerance to autoantigens in NOD mice, a model for human autoimmune type 1 diabetes (T1D). Whether IDO1 function is also defective in T1D is still unknown. We investigated IDO1 function in sera and peripheral blood mononuclear cells (PBMCs) from children with T1D and matched controls. These children were further included in a discovery study to identify SNPs in IDO1 that might modify the risk of T1D...
March 22, 2018: JCI Insight
https://www.readbyqxmd.com/read/29549887/a-novel-mutation-of-wfs1-gene-in-a-chinese-patient-with-wolfram-syndrome-a-case-report
#11
Min Li, Jia Liu, Huan Yi, Li Xu, Xiufeng Zhong, Fuhua Peng
BACKGROUND: Wolfram syndrome (WS), caused by mutations of the Wolfram syndrome 1 (WFS1) gene on chromosome 4p16.1, is an autosomal recessive disorder characterized by diabetes insipidus (DI), neuro-psychiatric disorders, hearing deficit, and urinary tract anomalies. CASE PRESENTATION: Here we report a 11-year-old Chinese boy who presented with visual loss, was suspected with optic neuritis (ON) or neuromyelitis optica (NMO) and referred to our department for further diagnosis...
March 17, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29542224/hyperactivation-of-nrf2-leads-to-hypoplasia-of-bone-in-vivo
#12
Eiki Yoshida, Takafumi Suzuki, Masanobu Morita, Keiko Taguchi, Kohei Tsuchida, Hozumi Motohashi, Minoru Doita, Masayuki Yamamoto
Keap1 is a negative regulator of Nrf2, a master transcription factor that regulates cytoprotection against oxidative and electrophilic stresses. Although several studies have suggested that the Keap1-Nrf2 system contributes to bone formation besides the maintenance of redox homeostasis, how Nrf2 hyperactivation by Keap1 deficiency affects the bone formation remains to be explored, as the Keap1-null mice are juvenile lethal. To overcome this problem, we used viable Keap1-deficient mice that we have generated by deleting the esophageal Nrf2 in Keap1-null mice (NEKO mice)...
March 15, 2018: Genes to Cells: Devoted to Molecular & Cellular Mechanisms
https://www.readbyqxmd.com/read/29538382/a-systematic-review-of-randomised-controlled-trials-assessing-effectiveness-of-prosthetic-and-orthotic-interventions
#13
Aoife Healy, Sybil Farmer, Anand Pandyan, Nachiappan Chockalingam
BACKGROUND: Assistive products are items which allow older people and people with disabilities to be able to live a healthy, productive and dignified life. It has been estimated that approximately 1.5% of the world's population need a prosthesis or orthosis. OBJECTIVE: The objective of this study was to systematically identify and review the evidence from randomized controlled trials assessing effectiveness and cost-effectiveness of prosthetic and orthotic interventions...
2018: PloS One
https://www.readbyqxmd.com/read/29438824/low-bone-toughness-in-the-tallyho-model-of-juvenile-type-2-diabetes-does-not-worsen-with-age
#14
Amy Creecy, Sasidhar Uppuganti, Mustafa Unal, R Clay Bunn, Paul Voziyan, Jeffry S Nyman
Fracture risk increases as type 2 diabetes (T2D) progresses. With the rising incidence of T2D, in particular early-onset T2D, a representative pre-clinical model is needed to study mechanisms for treating or preventing diabetic bone disease. Towards that goal, we hypothesized that fracture resistance of bone from diabetic TallyHO mice decreases as the duration of diabetes increases. Femurs and lumbar vertebrae were harvested from male, TallyHO mice and male, non-diabetic SWR/J mice at 16 weeks (n ≥ 12 per strain) and 34 weeks (n ≥ 13 per strain) of age...
February 10, 2018: Bone
https://www.readbyqxmd.com/read/29406443/extended-pancreas-donor-program-the-expand-study-a-prospective-multicenter-trial-testing-the-use-of-pancreas-donors-over-age-50
#15
Andrea Proneth, Andreas A Schnitzbauer, Peter Schenker, Andreas Wunsch, Falk Rauchfuss, Helmut Arbogast, Steffen Manekeller, Silvio Nadalin, Michael Heise, Michael A Ströhlein, Bernhard Banas, Peter Schemmer, Thomas Becker, Wolf O Bechstein, Andreas Pascher, Richard Viebahn, Edward K Geissler, Hans J Schlitt, Stefan A Farkas
BACKGROUND: Pancreas transplantation is the only curative treatment option for patients with juvenile diabetes. Organ shortage and restrictive allocation criteria are the main reasons for increasing waitlists leading to severe morbidity and mortality. We designed a study to increase the donor pool with extended donor criteria (EDC) organs (donor age 50-60 years or BMI 30-34kg/m). METHODS: Utilization of EDC organs required the implementation of a new allocation system within Eurotransplant...
February 5, 2018: Transplantation
https://www.readbyqxmd.com/read/29406269/hippocampus-and-hypothalamus-rna-sequencing-of-wfs1-deficient-mice
#16
Marilin Ivask, Sander Pajusalu, Ene Reimann, Sulev Kõks
Wolfram syndrome is caused by mutations in the WFS1 gene. WFS1 protein dysfunction results in a range of neuroendocrine syndromes and is mostly characterized by juvenile-onset diabetes mellitus and optic atrophy. WFS1 has been shown to participate in membrane trafficking, protein processing and Ca2+ homeostasis in the endoplasmic reticulum. Aim of the present study was to find the transcriptomic changes influenced by WFS1 in the hypothalamus and hippocampus using RNA-sequencing. The WFS1-deficient mice were used as a model system to analyze the changes in transcriptional networks...
February 3, 2018: Neuroscience
https://www.readbyqxmd.com/read/29373985/reversal-of-end-stage-heart-failure-in-juvenile-hemochromatosis-with-iron-chelation-therapy-a-case-report
#17
Shamil D Cooray, Neel M Heerasing, Laura A Selkrig, V Nathan Subramaniam, P Shane Hamblin, Cameron J McDonald, Catriona A McLean, Elissa McNamara, Angeline S Leet, Stuart K Roberts
BACKGROUND: Juvenile hemochromatosis is the most severe form of iron overloading phenotype. Although rare, it should be suspected in patients who present with hypogonadotropic hypogonadism, diabetes mellitus, or cardiomyopathy without a clear cause. CASE PRESENTATION: A young Serbian male presenting with end-stage heart failure was referred for extracorporeal membrane oxygenation. An endomyocardial biopsy revealed cytoplasmic iron deposits in myocytes. His condition was stabilized with biventricular assist devices and he was listed for heart transplantation...
January 26, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29373707/cardiovascular-and-cerebrovascular-comorbidities-of-juvenile-dermatomyositis-in-us-children-an-analysis-of-the-national-inpatient-sample
#18
Jonathan I Silverberg, Lauren Kwa, Michael C Kwa, Anne E Laumann, Kaveh Ardalan
Objective: JDM is associated with multiple potential risk factors for cardiovascular disease, including reduced heart rate variability, systolic/diastolic cardiac dysfunction, abnormal brachial artery reactivity and metabolic syndrome. However, little is known about cardiovascular risk in JDM. We sought to examine the association between JDM and cardiovascular risk factors and disease in US children. Methods: Data from the 2002-12 National Inpatient Sample was analysed, including ∼20% of all US hospitalizations (n = 14 535 620 paediatric hospitalizations)...
April 1, 2018: Rheumatology
https://www.readbyqxmd.com/read/29372654/functional-tsh-receptor-antibodies-in-children-with-autoimmune-thyroid-diseases
#19
Karolina Stożek, Artur Bossowski, Katarzyna Ziora, Anna Bossowska, Małgorzata Mrugacz, Anna Noczyńska, Mieczysław Walczak, Elżbieta Petriczko, Beata Pyrżak, Anna Kucharska, Mieczysław Szalecki, Tanja Diana, George J Kahaly
INTRODUCTION: The diagnostic value of the level of TSH receptor antibodies (TSHR-Ab) in the population of children with autoimmune thyroid diseases (AITDs) is still unknown. The aim of this cross-sectional study was to investigate the prevalence of TSHR-Ab in a paediatric cohort with AITD and healthy controls. MATERIALS AND METHODS: A total of 240 serum samples were obtained from 205 patients with AITD, type 1 diabetes (T1D), juvenile arthritis (JA), and healthy controls (C)...
March 2018: Autoimmunity
https://www.readbyqxmd.com/read/29357349/knockdown-of-wfs1-a-fly-homolog-of-wolfram-syndrome-1-in-the-nervous-system-increases-susceptibility-to-age-and-stress-induced-neuronal-dysfunction-and-degeneration-in-drosophila
#20
Yasufumi Sakakibara, Michiko Sekiya, Naoki Fujisaki, Xiuming Quan, Koichi M Iijima
Wolfram syndrome (WS), caused by loss-of-function mutations in the Wolfram syndrome 1 gene (WFS1), is characterized by juvenile-onset diabetes mellitus, bilateral optic atrophy, and a wide spectrum of neurological and psychiatric manifestations. WFS1 encodes an endoplasmic reticulum (ER)-resident transmembrane protein, and mutations in this gene lead to pancreatic β-cell death induced by high levels of ER stress. However, the mechanisms underlying neurodegeneration caused by WFS1 deficiency remain elusive...
January 2018: PLoS Genetics
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