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https://www.readbyqxmd.com/read/29342244/gli2-rescues-delays-in-brain-development-induced-by-kif3a-dysfunction
#1
Jia-Long Chen, Chia-Hsiang Chang, Jin-Wu Tsai
The primary cilium in neural stem cells plays distinct roles in different stages during cortical development. Ciliary dysfunctions in human (i.e., ciliopathy) cause developmental defects in multiple organs, including brain developmental delays, which lead to intellectual disabilities and cognitive deficits. However, effective treatment to this devastating developmental disorder is still lacking. Here, we first investigated the effects of ciliopathy on neural stem cells by knocking down Kif3a, a kinesin II motor required for ciliogenesis, in the neurogenic stage of cortical development by in utero electroporation of mouse embryos...
January 12, 2018: Cerebral Cortex
https://www.readbyqxmd.com/read/29341296/the-five-year-survival-of-children-with-down-syndrome-in-norway-1994-2009-differed-by-associated-congenital-heart-defects-and-extracardiac-malformations
#2
Kristoffer Brodwall, Gottfried Greve, Elisabeth Leirgul, Kari Klungsøyr, Henrik Holmstrøm, Stein Emil Vollset, Nina Øyen
AIM: We investigated the prevalence of Down syndrome in a nationwide birth cohort, focusing on congenital heart defects, their associations with extracardiac malformations, and survival. METHODS: National registers were used to identify Norwegian births (1994-2009) and deaths (1994-2014) and updated with hospital diagnoses. We estimated birth defect frequencies in Down syndrome and the general population, the association between heart defects and extracardiac malformations and hazard ratios for death from different combinations of heart defects and extracardiac malformations...
January 17, 2018: Acta Paediatrica
https://www.readbyqxmd.com/read/29340776/ectopic-cushing-s-syndrome-secondary-to-olfactory-neuroblastoma
#3
Kenny Yu, Federico Roncaroli, Tara Kearney, David Ewins, Deepa Beeharry, Thomas Naylor, David Ray, Rajiv Bhalla, Kanna Gnanalingham
We present the case of a patient with Cushing's syndrome secondary to ectopic ACTH secretion. A MR of the head showed a left-sided nasal mass extending down from the cribriform plate. The patient underwent endoscopic resection with nearly complete removal of the mass. Histological examination showed an ACTH-secreting olfactory neuroblastoma (ONB). The patient's cortisol levels returned to normal range after surgery and have remained normal for over a year. ONB is a rare cause for ectopic ACTH secretion. This case highlights the diagnostic and management difficulties in patients with ectopic ACTH secretion, and provides a brief review of ONB...
January 17, 2018: Acta Neurochirurgica
https://www.readbyqxmd.com/read/29339628/downregulation-of-long-non-coding-rna-kcnq1ot1-an-important-mechanism-of-arsenic-trioxide-induced-long-qt-syndrome
#4
Yanan Jiang, Weijie Du, Qun Chu, Ying Qin, Gulnara Tuguzbaeva, Hui Wang, Anqi Li, Guiyang Li, Yanyao Li, Lu Chai, Er Yue, Xi Sun, Zhiguo Wang, Valentin Pavlov, Baofeng Yang, Yunlong Bai
BACKGROUND/AIMS: Arsenic trioxide (ATO) is a known anti-acute promyelocytic leukemia (APL) reagent, whose clinical applications are limited by its serious cardiac toxicity and fatal adverse effects, such as sudden cardiac death resulting from long QT syndrome (LQTS). The mechanisms of cardiac arrhythmia due to ATO exposure still need to be elucidated. Long non-coding RNAs (lncRNAs) are emerging as major regulators of various pathophysiological processes. This study aimed to explore the involvement of lncRNAs in ATO-induced LQTS in vivo and in vitro...
January 15, 2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29339515/mers-cov-and-h5n1-influenza-virus-antagonize-antigen-presentation-by-altering-the-epigenetic-landscape
#5
Vineet D Menachery, Alexandra Schäfer, Kristin E Burnum-Johnson, Hugh D Mitchell, Amie J Eisfeld, Kevin B Walters, Carrie D Nicora, Samuel O Purvine, Cameron P Casey, Matthew E Monroe, Karl K Weitz, Kelly G Stratton, Bobbie-Jo M Webb-Robertson, Lisa E Gralinski, Thomas O Metz, Richard D Smith, Katrina M Waters, Amy C Sims, Yoshihiro Kawaoka, Ralph S Baric
Convergent evolution dictates that diverse groups of viruses will target both similar and distinct host pathways to manipulate the immune response and improve infection. In this study, we sought to leverage this uneven viral antagonism to identify critical host factors that govern disease outcome. Utilizing a systems-based approach, we examined differential regulation of IFN-γ-dependent genes following infection with robust respiratory viruses including influenza viruses [A/influenza/Vietnam/1203/2004 (H5N1-VN1203) and A/influenza/California/04/2009 (H1N1-CA04)] and coronaviruses [severe acute respiratory syndrome coronavirus (SARS-CoV) and Middle East respiratory syndrome CoV (MERS-CoV)]...
January 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29339197/differential-insulin-and-steroidogenic-signaling-in-insulin-resistant-and-non-insulin-resistant-human-luteinized-granulosa-cells-a-study-in-pcos-patients
#6
Muskaan Belani, Abhilash Deo, Preeti Shah, Manish Banker, Pawan Singal, Sarita Gupta
Insulin resistance (IR) is one of the significant aberrations in polycystic ovarian syndrome (PCOS), however is only observed in 70%-80% of obese PCOS and 20%-25% of lean PCOS. Hyperinsulinemia accompanies PCOS-IR along with hyperandrogenemia against normal insulin and androgen levels in PCOS-non insulin resistance (NIR). This could possibly be due to defects in the downstream signaling pathways. The study thus aims to unravel insulin and steroidogenic signaling pathways in luteinized granulosa cells isolated from PCOS -IR and NIR vs matched controls...
January 12, 2018: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29338740/is-sweat-testing-for-cystic-fibrosis-feasible-in-patients-with-down-syndrome
#7
Katharina Ruf, Antonia Demerath, Helge Hebestreit, Steffen Kunzmann
BACKGROUND: Recurrent airway infections are common in patients with Down's syndrome (DS). Hence, ruling out Cystic Fibrosis (CF) in these patients is often required. In the past, the value of sweat testing - the gold standard to diagnose CF - has been questioned in DS as false positive results have been reported. However, these reports are based on measurements of sweat osmolality or sodium concentrations, not chloride concentrations. This study analyses sweat secretion rate and chloride concentration in sweat samples of patients with DS in comparison to healthy controls...
January 16, 2018: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/29336386/retrospective-study-of-complete-atrioventricular-canal-defects-anesthetic-and-perioperative-challenges
#8
Aniruddha Ramesh Janai, Wilfried Bellinghausen, Edwin Turton, Carmine Bevilacqua, Waseem Zakhary, Martin Kostelka, Farhad Bakhtiary, Joerg Hambsch, Ingo Daehnert, Florian Loeffelbein, Joerg Ender
OBJECTIVE: The objective of this study was to highlight anesthetic and perioperative management and the outcomes of infants with complete atrioventricular (AV) canal defects. DESIGN: This retrospective descriptive study included children who underwent staged and primary biventricular repair for complete AV canal defects from 1999 to 2013. SETTING: A single-center study at a university affiliated heart center. PARTICIPANTS: One hundred and fifty-seven patients with a mean age at surgery of 125 ± 56...
January 2018: Annals of Cardiac Anaesthesia
https://www.readbyqxmd.com/read/29335257/staphylococcal-superantigens-use-lama2-as-a-coreceptor-to-activate-t-cells
#9
Zhigang Li, Joseph J Zeppa, Mark A Hancock, John K McCormick, Terence M Doherty, Geoffrey N Hendy, Joaquín Madrenas
Canonical Ag-dependent TCR signaling relies on activation of the src-family tyrosine kinase LCK. However, staphylococcal superantigens can trigger TCR signaling by activating an alternative pathway that is independent of LCK and utilizes a Gα11-containing G protein-coupled receptor (GPCR) leading to PLCβ activation. The molecules linking the superantigen to GPCR signaling are unknown. Using the ligand-receptor capture technology LRC-TriCEPS, we identified LAMA2, the α2 subunit of the extracellular matrix protein laminin, as the coreceptor for staphylococcal superantigens...
January 15, 2018: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29333085/next-generation-sequencing-expression-profiling-of-mitochondrial-subunits-in-men-with-klinefelter-syndrome
#10
Michele Salemi, Laura Cimino, Marika Marino, Rossella Cannarella, Rosita A Condorelli, Corrado Romano, Sandro La Vignera, Aldo E Calogero
Objectives: Klinefelter syndrome (KS) is one of the most common sex-chromosome disorders as it affects up to 1 in every 600-1000 newborn males. Men with KS carry one extra X chromosome and they usually present a 47,XXY karyotype, but less frequent variants have also been reported in literature. KS typical symptoms include tall stature, gynecomastia, broad hips, hypogonadism and absent spermatogenesis. The syndrome is also related to a wide range of cognitive deficits, among which language-based learning disabilities and verbal cognition impairment are frequently diagnosed...
2018: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/29330572/effects-of-whole-body-vibration-on-muscle-strength-bone-mineral-content-and-density-and-balance-and-body-composition-of-children-and-adolescents-with-down-syndrome-a-systematic-review
#11
REVIEW
M B Saquetto, F F Pereira, R S Queiroz, C M da Silva, C S Conceição, M Gomes Neto
The aim of this study is to verify the effects of whole-body vibration (WBV) training on the muscle strength of children and adolescents with Down syndrome. We searched MEDLINE, Cochrane, SciELO, Lilacs and PUBMED databases and included manual searches to identify randomised controlled trials to investigate the effects of WBV on the structure and body function of children and adolescents with Down syndrome. Two reviewers independently selected the studies and performed statistical analysis. In total, five studies with 171 patients that compared WBV with exercise and/or control were included...
January 12, 2018: Osteoporosis International
https://www.readbyqxmd.com/read/29329955/longitudinal-predictors-of-early-language-in-infants-with-down-syndrome-a-preliminary-study
#12
Emily Mason-Apps, Vesna Stojanovik, Carmel Houston-Price, Sue Buckley
PURPOSE: Children with Down syndrome (DS) typically have marked delays in language development relative to their general cognitive development, with particular difficulties in expressive compared to receptive language. Although early social communication skills, including gestures and joint attention, have been shown to be related to later language outcomes in DS, knowledge is limited as to whether these factors exclusively predict outcomes, or whether other factors (e.g. perceptual and non-verbal skills) are involved...
January 9, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29329773/total-energy-expenditure-and-body-composition-of-children-with-developmental-disabilities
#13
Michele Polfuss, Kathleen J Sawin, Paula E Papanek, Linda Bandini, Bethany Forseth, Andrea Moosreiner, Kimberley Zvara, Dale A Schoeller
BACKGROUND: Obesity prevalence is increased in children with developmental disabilities, specifically in children with spina bifida and Down syndrome. Energy expenditure, a critical aspect of weight management, has been extensively studied in the typically developing population, but not adequately studied in children with developmental disabilities. OBJECTIVE: Determine energy expenditure, fat-free mass and body fat percentile and the impact of these findings on recommended caloric intake in children with spina bifida and Down syndrome...
December 28, 2017: Disability and Health Journal
https://www.readbyqxmd.com/read/29329362/clostridium-butyricum-regulates-visceral-hypersensitivity-of-irritable-bowel-syndrome-by-inhibiting-colonic-mucous-low-grade-inflammation-through-its-action-on-nlrp6
#14
Kejia Zhao, Leimin Yu, Xi Wang, Yibo He, Bin Lu
Visceral hypersensitivity induced by stress is quite common in irritable bowel syndrome (IBS) patients. Probiotics play an important role in reducing visceral hypersensitivity in IBS patients. However, the mechanism has not been clearly elucidated. In this study, we investigated the role of nod-like receptor pyrin domain-containing protein 6 (NLRP6) in Clostridium butyricum-regulated IBS induced by stress. Our results showed that NLRP6 was down-regulated in IBS group colon tissues. In addition, IL-18, IL-1β, myeloperoxidase (MPO), d-lactic acid (D-LA), and CD172a were up-regulated in the IBS group of colonic mucous...
January 10, 2018: Acta Biochimica et Biophysica Sinica
https://www.readbyqxmd.com/read/29328996/acute-and-sub-acute-neurological-toxicity-in-children-treated-for-acute-lymphoblastic-leukemia
#15
REVIEW
Natalia C Millan, Analía Pastrana, Myriam R Guitter, Pedro A Zubizarreta, María S Monges, María S Felice
Eighty percent of children with acute lymphoblastic leukemia (ALL) survive with current treatments. Neurotoxicity is an infrequent adverse event. We describe clinical presentations of neurological toxicity, phases of treatment when these adverse events were more frequent and patients ́ outcome. From January-1995 to December-2015, 1379 ALL cases were admitted. Neurotoxicity was diagnosed in 49 patients (3.6%) and classified according to neurological syndromes. Medical records, laboratory-tests and images were reviewed...
January 2, 2018: Leukemia Research
https://www.readbyqxmd.com/read/29327584/gama-aminobutyric-acid-enriched-rice-bran-diet-attenuates-insulin-resistance-and-balances-energy-expenditure-via-modification-of-gut-microbiota-and-scfas
#16
Xu Si, Wenting Shang, Zhongkai Zhou, Guanghou Shui, Sin Man Lam, Christopher L Blanchard, Padraig Strappe
In this study, gama-aminobutyric acid (GABA) enriched rice bran (ERB) was supplemented to obese rats to investigate the attenuation of metabolic syndromes induced by high-fat diet. ERB-containing diet stimulated butyrate and propionate production by promoting Anaerostipes, Anaerostipes sp. and associated synthesizing enzymes. This altered SCFA distribution further enhanced circulatory levels of leptin and glucagon-like peptide-1, controlling food intake by down-regulating orexigenic factors. Together with the enhanced fatty acid β-oxidation highlighted by Prkaa2, Ppara, Scd1 expression via AMPK signaling pathway and Non-alcoholic fatty liver disease pathway, energy expenditure was positively modulated...
January 12, 2018: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/29325989/proteomic-analysis-reveals-the-important-roles-of-alpha-5-collagen-and-atp5%C3%AE-during-skin-ulceration-syndrome-progression-of-sea-cucumber-apostichopus-japonicus
#17
Zelong Zhao, Jingwei Jiang, Yongjia Pan, Hongjuan Sun, Xiaoyan Guan, Shan Gao, Zhong Chen, Ying Dong, Zunchun Zhou
Apostichopus japonicus is one of the most important aquaculture species in China. Skin ulceration syndrome (SUS) of sea cucumber is a common and serious disease affected the development of A. japonicus culture industry. To better understand the response mechanisms of A. japonicus during SUS progression, the protein variations in the body wall of A. japonicus at different stages of SUS were investigated by a comparative proteomic approach based on isobaric tags for relative and absolute quantification. A total of 1449 proteins were identified from the samples at different SUS stages...
January 8, 2018: Journal of Proteomics
https://www.readbyqxmd.com/read/29325785/characteristics-and-outcomes-of-children-with-ductal-dependent-congenital-heart-disease-and-esophageal-atresia-tracheoesophageal-fistula-a-multi-institutional-analysis
#18
Kriti Puri, Shaine A Morris, Carlos M Mery, Yunfei Wang, Brady S Moffett, Jeffrey S Heinle, J Ruben Rodriguez, Lara S Shekerdemian, Antonio G Cabrera
BACKGROUND: Extracardiac birth defects are associated with worse outcomes in congenital heart disease (CHD). The impact of esophageal atresia/trachea-esophageal fistula (EA/TEF) on outcomes after surgery for ductal-dependent CHD is unknown. METHODS: Retrospective matched cohort study using the Pediatric Health Information System database from 07/2004 to 06/2015. Hospitalizations with ductal-dependent CHD and EA/TEF, undergoing CHD surgery were included as cases...
January 8, 2018: Surgery
https://www.readbyqxmd.com/read/29325710/wnt5b-regulates-apoptosis-in-litopenaeus-vannamei-against-white-spot-syndrome-virus
#19
Chuanqi Wang, Lingwei Ruan, Hong Shi, Xun Xu
The Wnt signaling mediated by Wnt proteins that orchestrate and influence a myriad of cellular processes, such as cell proliferation, differentiation, tumorigenesis, apoptosis, and participation in immune defense during microbe infection. Wnt5b is one of the Wnt signaling molecules that initiate the cascade. In this study, we cloned and characterized a Wnt5b homolog from Litopenaeus vannamei designed as LvWnt5b. The full length of LvWnt5b transcript was 1726 bp with an 1107 bp open reading frame that encoded a 368 aa protein, which contained 24 discontinuous and highly conserved cysteine...
January 8, 2018: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/29324645/esophageal-web-in-a-down-syndrome-infant-a-rare-case-report
#20
Nirmala Thomas, Roy J Mukkada, Muhammed Jasim Abdul Jalal, Nisha Narayanankutty
We describe the rare case of an infant with trisomy 21 who presented with recurrent vomiting and aspiration pneumonia and a failure to thrive. Infants with Down's syndrome have been known to have various problems in the gastrointestinal tract. In the esophagus, what have been described are dysmotility, gastroesophageal reflux and strictures. This infant on evaluation was found to have an esophageal web and simple endoscopic dilatation relieved the infant of her symptoms. No similar case has been reported in literature...
January 11, 2018: Children
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