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https://www.readbyqxmd.com/read/28636109/xq26-1-26-3-duplication-including-mospd1-and-gpc3-identified-in-boy-with-short-stature-and-double-outlet-right-ventricle
#1
Yukiko Hirota, Takaomi Minami, Tomoyuki Sato, Akiko Yokomizo, Auimi Matsumoto, Masahide Goto, Eriko Jinbo, Takanori Yamamgata
Xq25q26 duplication syndrome has been reported in individuals with clinical features such as short stature, intellectual disability, syndromic facial appearance, small hands and feet, and genital abnormalities. The symptoms are related to critical chromosome regions including Xq26.1-26.3. In this particular syndrome, no patient with congenital heart disease was previously reported. Here, we report a 6-year-old boy with typical symptoms of Xq25q26 duplication syndrome and double outlet right ventricle (DORV) with pulmonary atresia (PA)...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28635957/itk-signalling-via-the-ras-irf4-pathway-regulates-the-development-and-function-of-tr1-cells
#2
Weishan Huang, Sabrina Solouki, Nicholas Koylass, Song-Guo Zheng, Avery August
Type 1 regulatory T (Tr1) cells differentiate in response to signals engaging the T cell receptor (TCR), express high levels of the immunosuppressive cytokine IL-10, but not Foxp3, and can suppress inflammation and promote immune tolerance. Here we show that ITK, an important modulator of TCR signalling, is required for the TCR-induced development of Tr1 cells in various organs, and in the mucosal system during parasitic and viral infections. ITK kinase activity is required for mouse and human Tr1 cell differentiation...
June 21, 2017: Nature Communications
https://www.readbyqxmd.com/read/28635948/munc13-1-and-munc18-1-together-prevent-nsf-dependent-de-priming-of-synaptic-vesicles
#3
Enqi He, Keimpe Wierda, Rhode van Westen, Jurjen H Broeke, Ruud F Toonen, L Niels Cornelisse, Matthijs Verhage
Synaptic transmission requires a stable pool of release-ready (primed) vesicles. Here we show that two molecules involved in SNARE-complex assembly, Munc13-1 and Munc18-1, together stabilize release-ready vesicles by preventing de-priming. Replacing neuronal Munc18-1 by a non-neuronal isoform Munc18-2 (Munc18-1/2SWAP) supports activity-dependent priming, but primed vesicles fall back into a non-releasable state (de-prime) within seconds. Munc13-1 deficiency produces a similar defect. Inhibitors of N-ethylmaleimide sensitive factor (NSF), N-ethylmaleimide (NEM) or interfering peptides, prevent de-priming in munc18-1/2SWAP or munc13-1 null synapses, but not in CAPS-1/2 null, another priming-deficient mutant...
June 21, 2017: Nature Communications
https://www.readbyqxmd.com/read/28634534/etiological-factors-of-short-stature-in-children-and-adolescents-experience-at-a-tertiary-care-hospital-in-egypt
#4
Almontaser Hussein, Hekma Farghaly, Eman Askar, Kotb Metwalley, Khaled Saad, Asmaa Zahran, Hisham A Othman
BACKGROUND: Accurate anthropometric measurements and critical analysis of growth data allow the clinician to promptly recognize children with short stature. The aim of this study was to determine the frequency of etiological factors causing short stature among children referred to the pediatric endocrinology clinic of Assiut University Children's Hospital, the main tertiary care center in Upper Egypt. METHODS: We conducted this descriptive observational study from May 2012 to December 2015, to analyze 637 children (boys 354, girls 283) with short stature...
May 2017: Therapeutic Advances in Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28634491/more-favorable-metabolic-impact-of-three-times-weekly-versus-daily-growth-hormone-treatment-in-na%C3%A3-ve-gh-deficient-children
#5
Alessandro Ciresi, Floriana Cicciò, Stefano Radellini, Valentina Guarnotta, Anna Maria Calcaterra, Carla Giordano
OBJECTIVE: To evaluate whether two different regimens of weekly injections could lead to similar auxological and metabolic effects in children with growth hormone deficiency (GHD). DESIGN: 32 GHD children (25 males, mean age 10.5 ± 2.2 yr) were randomly assigned to receive daily (group A, 16 patients) or TIW (group B, 16 patients) GHT for 12 months. METHODS: Auxological parameters, insulin-like growth factor-I (IGF-I), glucose and insulin during OGTT, glycosylated hemoglobin (HbA1c), lipid profile, the oral disposition index (DIo), the homeostasis model assessment estimate of insulin resistance (Homa-IR), and the insulin sensitivity index (ISI)...
2017: International Journal of Endocrinology
https://www.readbyqxmd.com/read/28634103/undetectable-mannose-binding-lectin-and-corticosteroids-increase-serious-infection-risk-in-rheumatoid-arthritis
#6
Graeme J Carroll, Krista Makin, Maxine Garnsey, Max Bulsara, Bronwyn V Carroll, Shona M Curtin, Erin M Allan, Andrew McLean-Tooke, Christine Bundell, Monica L Kemp, Pooja Deshpande, Dana Ihdayhid, Sophie Coleman, Tracie Easter, James Triplett, Timothy Disteldorf, C Helen Marsden, Michaela Lucas
BACKGROUND: Infection is the leading cause of death in rheumatoid arthritis (RA). Corticosteroid (CS) use is a known and important risk factor for serious infections (SIs). Mannose binding lectin (MBL) is a genetically determined component of the innate immune system implicated in neonatal infections. OBJECTIVE: Our aim was to determine whether MBL deficiency is a risk factor for SIs in RA and to compare it with CS use and also synthetic and biologic disease-modifying antirheumatic drug (DMARD) therapy...
June 17, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/28633507/digenic-duox1-and-duox2-mutations-in-cases-with-congenital-hypothyroidism
#7
Zehra Aycan, Hakan Cangul, Marina Muzza, Veysel N Bas, Laura Fugazzola, V Krishna Chatterjee, Luca Persani, Nadia Schoenmakers
Context: The DUOX2 enzyme generates hydrogen peroxide (H2O2), a crucial electron acceptor for the TPO-catalyzed iodination and coupling reactions mediating thyroid hormone biosynthesis. DUOX2 mutations result in dyshormonogenetic Congenital Hypothyroidism (CH) which may be phenotypically heterogeneous, leading to the hypothesis that CH severity may be influenced by environmental factors (eg dietary iodine) and oligogenic modifiers (eg variants in the homologous NADPH-oxidase DUOX1). However, loss of function mutations in DUOX1 have not hitherto been described and its role in thyroid biology remains undefined...
June 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28632925/a-kallikrein-targeting-rna-aptamer-inhibits-the-intrinsic-pathway-of-coagulation-and-reduces-bradykinin-release
#8
K-A Steen-Burrell, J Layzer, B A Sullenger
BACKGROUND: Plasma kallikrein is a serine protease that plays an integral role in many biological processes including coagulation, inflammation, and fibrinolysis. The main function of kallikrein in coagulation is the amplification of activated factor XIIa (FXIIa) generation which ultimately leads to thrombin generation and fibrin clot formation. Kallikrein is generated by FXIIa-mediated cleavage of the zymogen, prekallikrein which is usually complexed with the nonenzymatic cofactor, high-molecular-weight kininogen (HK)...
June 20, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28632504/what-is-new-in-gastrointestinal-stromal-tumor
#9
Inga-Marie Schaefer, Adrián Mariño-Enríquez, Jonathan A Fletcher
The classification "gastrointestinal stromal tumor" (GIST) became commonplace in the 1990s and since that time various advances have characterized the GIST lineage of origin, tyrosine kinase mutations, and mechanisms of response and resistance to targeted therapies. In addition to tyrosine kinase mutations and their constitutive activation of downstream signaling pathways, GISTs acquire a sequence of chromosomal aberrations. These include deletions of chromosomes 14q, 22q, 1p, and 15q, which harbor putative tumor suppressor genes required for stepwise progression from microscopic, preclinical forms of GIST (microGIST) to clinically relevant tumors with malignant potential...
June 19, 2017: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/28632435/relative-effects-of-plasma-fibrinogen-concentrate-and-factor-xiii-on-rotem-coagulation-profiles-in-an-in-vitro-model-of-massive-transfusion-in-trauma
#10
David E Schmidt, Märit Halmin, Agneta Wikman, Anders Östlund, Anna Ågren
Massive traumatic haemorrhage is aggravated through the development of trauma-induced coagulopathy, which is managed by plasma transfusion and/or fibrinogen concentrate administration. It is yet unclear whether these treatments are equally potent in ensuring adequate haemostasis, and whether additional factor XIII (FXIII) administration provides further benefits. In this study, we compared ROTEM whole blood coagulation profiles after experimental massive transfusion with different transfusion regimens in an in vitro model of dilution- and transfusion-related coagulopathy...
June 20, 2017: Scandinavian Journal of Clinical and Laboratory Investigation
https://www.readbyqxmd.com/read/28631746/prevalence-of-androgen-deficiency-in-chronic-spinal-cord-injury-patients-suffering-from-erectile-dysfunction
#11
M Behnaz, Z Majd, M Radfar, H Ajami, M Qorbani, A Kokab
STUDY DESIGN: Retrospective cross-sectional study. OBJECTIVES: To estimate the prevalence of biochemical androgen deficiency in Iranian spinal cord injured men suffering from erectile dysfunction (ED) and to determine factors related to this problem. SETTING: An andrology clinic of a teaching hospital in Tehran. METHODS: Men, 18 years of age and older, with chronic (>2 years) spinal cord injury (SCI) suffering from ED were recruited...
June 20, 2017: Spinal Cord
https://www.readbyqxmd.com/read/28631291/folate-deficiency-disturbs-hsa-let-7-g-level-through-methylation-regulation-in-neural-tube-defects
#12
Li Wang, Shaofang Shangguan, Yu Xin, Shaoyan Chang, Zhen Wang, Xiaolin Lu, Lihua Wu, Bo Niu, Ting Zhang
Folic acid deficiency during pregnancy is believed to be a high-risk factor for neural tube defects (NTDs). Disturbed epigenetic modifications, including miRNA regulation, have been linked to the pathogenesis of NTDs in those with folate deficiency. However, the mechanism by which folic acid-regulated miRNA influences this pathogenesis remains unclear. It is believed that DNA methylation is associated with dysregulated miRNA expression. To clarify this issue, here we measured the methylation changes of 22 miRNAs in 57 human NTD cases to explore whether such changes are involved in miRNA regulation in NTD cases through folate metabolism...
June 19, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28631168/the-function-of-osbhlh068-is-partially-redundant-with-its-homolog-atbhlh112-in-the-regulation-of-the-salt-stress-response-but-has-opposite-functions-to-control-flowering-in-arabidopsis
#13
Hung-Chi Chen, Vicki Hsieh-Feng, Pei-Chun Liao, Wan-Hsing Cheng, Li-Yu Liu, Yun-Wei Yang, Ming-Hsin Lai, Men-Chi Chang
The homologous genes OsbHLH068 and AtbHLH112 have partially redundant functions in the regulation of the salt stress response but opposite functions to control flowering in Arabidopsis. The transcription factor (TF) basic/Helix-Loop-Helix (bHLH) is important for plant growth, development, and stress responses. OsbHLH068, which is a homologous gene of AtbHLH112 that is up-regulated under drought and salt stresses, as indicated by previous microarray data analysis. However, the intrinsic function of OsbHLH068 remains unknown...
June 19, 2017: Plant Molecular Biology
https://www.readbyqxmd.com/read/28631167/copper-and-ectopic-expression-of-the-arabidopsis-transport-protein-copt1-alter-iron-homeostasis-in-rice-oryza-sativa-l
#14
Amparo Andrés-Bordería, Fernando Andrés, Antoni Garcia-Molina, Ana Perea-García, Concha Domingo, Sergi Puig, Lola Peñarrubia
Copper deficiency and excess differentially affect iron homeostasis in rice and overexpression of the Arabidopsis high-affinity copper transporter COPT1 slightly increases endogenous iron concentration in rice grains. Higher plants have developed sophisticated mechanisms to efficiently acquire and use micronutrients such as copper and iron. However, the molecular mechanisms underlying the interaction between both metals remain poorly understood. In the present work, we study the effects produced on iron homeostasis by a wide range of copper concentrations in the growth media and by altered copper transport in Oryza sativa plants...
June 19, 2017: Plant Molecular Biology
https://www.readbyqxmd.com/read/28631133/bone-density-in-pediatric-crohn-s-disease-a-cross-sectional-observation-from-south-india
#15
Shiraz Salim Khan, Sagar S Patil
BACKGROUND: Crohn's disease (CD) frequently manifests in the second and third decades of life. Malnutrition and corticosteroid therapy may affect bone mineralization and delay bone growth. Our aim was to study bone mineral density and factors associated low bone mineral density (BMD) in pediatric CD. METHODS: A cross-sectional observational study in children with CD (aged 5 to <18 years) was done. Demographic and treatment details were noted. Vitamin D levels <20 ng/mL were considered as deficiency...
June 20, 2017: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
https://www.readbyqxmd.com/read/28631068/autoinflammatory-diseases-with-periodic-fevers
#16
REVIEW
Erdal Sag, Yelda Bilginer, Seza Ozen
PURPOSE OF REVIEW: One purpose of this review was to raise awareness for the new autoinflammatory syndromes. These diseases are increasingly recognized and are in the differential diagnosis of many disease states. We also aimed to review the latest recommendations for the diagnosis, management, and treatment of these patients. RECENT FINDINGS: Familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS), and hyperimmunoglobulinemia D and periodic fever syndrome/mevalonate kinase deficiency (HIDS/MVKD) are the more common autoinflammatory diseases that are characterized by periodic fevers and attacks of inflammation...
July 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28630648/comparative-metabolic-profiling-of-the-lipid-producing-green-microalga-chlorella-reveals-that-nitrogen-and-carbon-metabolic-pathways-contribute-to-lipid-metabolism
#17
Hui Chen, Yanli Zheng, Jiao Zhan, Chenliu He, Qiang Wang
Microalgae are a promising feedstock for biofuel production. Microalgal metabolic pathways are heavily influenced by environmental factors. For instance, lipid metabolism can be induced by nitrogen-limiting conditions. However, the underlying mechanisms of lipid biosynthesis are unclear. In this study, we analyzed the global metabolic profiles of three genetically closely related Chlorella strains (C1, C2, and C3) with significant differences in lipid productivity to identify the contributions of key metabolic pathways to lipid metabolism...
2017: Biotechnology for Biofuels
https://www.readbyqxmd.com/read/28630437/phylogenetic-analysis-of-f-bzip-transcription-factors-indicates-conservation-of-the-zinc-deficiency-response-across-land-plants
#18
Pedro Humberto Castro, Grmay H Lilay, Antonio Muñoz-Mérida, Jan K Schjoerring, Herlânder Azevedo, Ana G L Assunção
Basic leucine zipper (bZIP) transcription factors control important developmental and physiological processes in plants. In Arabidopsis thaliana, the three gene F-bZIP subfamily has been associated with zinc deficiency and salt stress response. Benefiting from the present abundance of plant genomic data, we performed an evolutionary and structural characterization of plant F-bZIPs. We observed divergence during seed plant evolution, into two groups and inferred different selective pressures for each. Group 1 contains AtbZIP19 and AtbZIP23 and appears more conserved, whereas Group 2, containing AtbZIP24, is more prone to gene loss and expansion events...
June 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28630342/autoantibody-profiling-on-a-plasmonic-nano-gold-chip-for-the-early-detection-of-hypertensive-heart-disease
#19
Xiaoyang Li, Tatiana Kuznetsova, Nicholas Cauwenberghs, Matthew Wheeler, Holden Maecker, Joseph C Wu, Francois Haddad, Hongjie Dai
The role of autoimmunity in cardiovascular (CV) diseases has been increasingly recognized. Autoimmunity is most commonly examined by the levels of circulating autoantibodies in clinical practices. Measurement of autoantibodies remains, however, challenging because of the deficiency of reproducible, sensitive, and standardized assays. The lack of multiplexed assays also limits the potential to identify a CV-specific autoantibody profile. To overcome these challenges, we developed a nanotechnology-based plasmonic gold chip for autoantibody profiling...
June 19, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28630279/obesity-and-p16-ink4a-down-regulation-activate-breast-adipocytes-and-promote-their-pro-tumorigenicity
#20
Huda H Al-Khalaf, Mrad Amir, Falah Al-Mohanna, Asma Tulbah, Adher Al-Sayed, Abdelilah Aboussekhra
Obesity is increasingly recognized as a risk factor for breast cancer development. However, the molecular basis of obesity-related breast carcinogenesis remains elusive. In this study, we have shown that obesity reduces the level of the tumor suppressor p16(INK4A) protein in breast adipocytes, which showed active features and strong pro-carcinogenic potential both in vitro and in orthotopic tumor xenografts, as compared to mature adipocytes from lean women. Furthermore, obesity triggered epithelial-to-mesenchymal transition (EMT) in breast ductal epithelial cells...
June 19, 2017: Molecular and Cellular Biology
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