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https://www.readbyqxmd.com/read/28097850/-a-regenerative-anemia-in-infants-2-cases-of-pearson%C3%A2-s-syndrome
#1
José M Martínez de Zabarte Fernández, Carmen Rodríguez-Vigil Iturrate, Cristina Martínez Faci, Inmaculada García Jiménez, Laura Murillo Sanjuan, Ascensión Muñoz Mellado
Anemia is very common in infants. Although its causes are usually not severe and treatable, proper etiologic diagnosis should be established. When anemia is non-regenerative, it can be caused by aplastic anemia, myelodysplastic syndrome, bone marrow infiltration or hematopoietic factors deficiencies. Another possible cause is Pearson's syndrome, a rare mitochondrial disease that causes non-regenerative anemia associated with other cytopenias, pancreatic insufficiency, lactic acidosis and great variability in clinical presentation conditioned by heteroplasmy...
February 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28093036/combining-nanoscale-magnetic-nimodipine-liposomes-with-magnetic-resonance-image-for-parkinson-s-disease-targeting-therapy
#2
Bingshuo Ji, Meili Wang, Dawei Gao, Shanshan Xing, Lei Li, Lanxiang Liu, Min Zhao, Ximing Qi, Kun Dai
AIM: To enhance drug targeting and blood-brain barrier penetration for Parkinson's disease (PD), a novel nanoscale magnetic nimodipine (NMD) delivery system was designed and prepared. MATERIALS & METHODS: The PD rats were established and treated with free NMD or Fe3O4-modified NMD liposomes (Fe3O4-NMD-lips). Then, factional anisotropy values were measured by MRI to evaluate therapy efficacy. RESULTS: Fe3O4-NMD-lips showed the best neuroprotective effect, and the NMD concentration of lesions was 2...
January 17, 2017: Nanomedicine
https://www.readbyqxmd.com/read/28090303/genotype-phenotype-effects-of-bmpr2-mutations-on-disease-severity-in-mouse-models-of-pulmonary-hypertension
#3
Andrea L Frump, Arunima Datta, Sampa Ghose, James West, Mark P de Caestecker
More than 350 mutations in the type-2 BMP (bone morphogenetic protein) receptor, BMPR2, have been identified in patients with heritable pulmonary arterial hypertension (HPAH). However, only 30% of BMPR2 mutation carriers develop PAH, and we cannot predict which of these carriers will develop clinical disease. One possibility is that the nature of the BMPR2 mutation affects disease severity. This hypothesis has been difficult to test clinically, given the rarity of HPAH and the complexity of the confounding genetic and environmental risk factors...
December 2016: Pulmonary Circulation
https://www.readbyqxmd.com/read/28077099/a-prospective-study-on-the-characteristics-and-subjects-of-pediatric-palliative-care-case-management-provided-by-a-hospital-based-palliative-care-team
#4
Charissa T Jagt-van Kampen, Marijke C Kars, Derk A Colenbrander, Diederik K Bosman, Martha A Grootenhuis, Huib N Caron, Antoinette Y N Schouten-van Meeteren
BACKGROUND: Case management is a subject of interest within pediatric palliative care. Detailed descriptions of the content of this type of case management are lacking. We aim to describe the contents of care provided, utilization of different disciplines, and times of usage of a pediatric palliative care case management program compared for patients with malignant disease (MD) and non-malignant disease (NMD). METHODS: A three-month prospective study, with questionnaires filled in by members of a pediatric palliative care team (PPCT) for each contact with parents...
January 12, 2017: BMC Palliative Care
https://www.readbyqxmd.com/read/28062855/expression-of-the-erf1-translation-termination-factor-is-controlled-by-an-autoregulatory-circuit-involving-readthrough-and-nonsense-mediated-decay-in-plants
#5
Tünde Nyikó, Andor Auber, Levente Szabadkai, Anna Benkovics, Mariann Auth, Zsuzsanna Mérai, Zoltán Kerényi, Andrea Dinnyés, Ferenc Nagy, Dániel Silhavy
When a ribosome reaches a stop codon, the eukaryotic Release Factor 1 (eRF1) binds to the A site of the ribosome and terminates translation. In yeasts and plants, both over- and underexpression of eRF1 lead to altered phenotype indicating that eRF1 expression should be strictly controlled. However, regulation of eRF1 level is still poorly understood. Here we show that expression of plant eRF1 is controlled by a complex negative autoregulatory circuit, which is based on the unique features of the 3'untranslated region (3'UTR) of the eRF1-1 transcript...
January 6, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28054750/somatic-med12-nonsense-mutation-escapes-mrna-decay-and-reveals-a-motif-required-for-nuclear-entry
#6
Tuomas Heikkinen, Kati Kämpjärvi, Salla Keskitalo, Pernilla von Nandelstadh, Xiaonan Liu, Ville Rantanen, Esa Pitkänen, Matias Kinnunen, Heikki Kuusanmäki, Mika Kontro, Mikko Turunen, Netta Mäkinen, Jussi Taipale, Caroline Heckman, Kaisa Lehti, Satu Mustjoki, Markku Varjosalo, Pia Vahteristo
MED12 is a key component of the transcription-regulating Mediator complex. Specific missense and in-frame insertion/deletion mutations in exons 1 and 2 have been identified in uterine leiomyomas, breast tumors, and chronic lymphocytic leukemia. Here, we characterize the first MED12 5' end nonsense mutation (c.97G>T, p.E33X) identified in acute lymphoblastic leukemia and show that it escapes nonsense-mediated mRNA decay (NMD) by using an alternative translation initiation site. The resulting N-terminally truncated protein is unable to enter the nucleus due to the lack of identified nuclear localization signal (NLS)...
January 5, 2017: Human Mutation
https://www.readbyqxmd.com/read/28032358/evaluation-of-the-brachial-artery-endothelial-function-in-chronic-alcohol-consumption-among-males-by-high-frequency-ultrasonography
#7
Runlan Luo, Jiaqi Shen, Qiao Zhou, Yue Liu, Guangsen Li
OBJECTIVE: There is evidence suggesting that different volumes of chronic alcohol consumption have different effects on the endothelium. Therefore, using high-frequency ultrasonography, we evaluate the effects of the different volume and duration of alcohol intake on brachial artery endothelial function in chronic drinkers. METHODS: Ninety-two male chronic episodic alcoholics were grouped by alcohol intake amount and duration: mild (group B, n=30); ≤90 mg ethanol daily, 3-5 days/wk for 5-8 years; moderate (group C, n=30); 90-150 mg ethanol daily, 3-5 days/wk for 9-20 years; and severe (group D, n=32); ≥150 mg ethanol daily, 6-7 days/wk for more than 10 years...
December 29, 2016: Echocardiography
https://www.readbyqxmd.com/read/28017590/fluorescence-amplification-method-for-forward-genetic-discovery-of-factors-in-human-mrna-degradation
#8
Andrei Alexandrov, Mei-Di Shu, Joan A Steitz
Nonsense-mediated decay (NMD) degrades mRNAs containing a premature termination codon (PTC). PTCs are a frequent cause of human genetic diseases, and the NMD pathway is known to modulate disease severity. Since partial NMD attenuation can potentially enhance nonsense suppression therapies, better definition of human-specific NMD is required. However, the majority of NMD factors were first discovered in model organisms and then subsequently identified by homology in human. Sensitivity and throughput limitations of existing approaches have hindered systematic forward genetic screening for NMD factors in human cells...
January 5, 2017: Molecular Cell
https://www.readbyqxmd.com/read/28008922/atp-hydrolysis-by-upf1-is-required-for-efficient-translation-termination-at-premature-stop-codons
#9
Lucas D Serdar, DaJuan L Whiteside, Kristian E Baker
Nonsense-mediated mRNA decay (NMD) represents a eukaryotic quality control pathway that recognizes and rapidly degrades transcripts harbouring nonsense mutations to limit accumulation of non-functional and potentially toxic truncated polypeptides. A critical component of the NMD machinery is UPF1, an RNA helicase whose ATPase activity is essential for NMD, but for which the precise function and site of action remain unclear. We provide evidence that ATP hydrolysis by UPF1 is required for efficient translation termination and ribosome release at a premature termination codon...
December 23, 2016: Nature Communications
https://www.readbyqxmd.com/read/28008720/the-exon-junction-complex-a-lifelong-guardian-of-mrna-fate
#10
REVIEW
Lauren A Woodward, Justin W Mabin, Pooja Gangras, Guramrit Singh
During messenger RNA (mRNA) biogenesis and processing in the nucleus, many proteins are imprinted on mRNAs assembling them into messenger ribonucleoproteins (mRNPs). Some of these proteins remain stably bound within mRNPs and have a long-lasting impact on their fate. One of the best-studied examples is the exon junction complex (EJC), a multiprotein complex deposited primarily 24 nucleotides upstream of exon-exon junctions as a consequence of pre-mRNA splicing. The EJC maintains a stable, sequence-independent, hold on the mRNA until its removal during translation in the cytoplasm...
December 23, 2016: Wiley Interdisciplinary Reviews. RNA
https://www.readbyqxmd.com/read/27976523/neonatal-maternal-deprivation-enhances-presynaptic-p2x7-receptor-transmission-in-insular-cortex-in-an-adult-rat-model-of-visceral-hypersensitivity
#11
Ping-An Zhang, Qiya Xu, Lu Xue, Hang Zheng, Jun Yan, Ying Xiao, Guang-Yin Xu
AIMS: Insular cortex (IC) is involved in processing the information of pain. The aim of this study was to investigate roles and mechanisms of P2X7 receptors (P2X7Rs) in IC in development of visceral hypersensitivity of adult rats with neonatal maternal deprivation (NMD). METHODS: Visceral hypersensitivity was quantified by abdominal withdrawal reflex threshold to colorectal distension (CRD). Expression of P2X7Rs was determined by qPCR and Western blot. Synaptic transmission in IC was recorded by patch-clamp recording...
December 15, 2016: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/27965181/stimulation-of-the-bilateral-anterior-nuclei-of-the-thalamus-in-the-treatment-of-refractory-epilepsy-two-cases-of-subcortical-band-heterotopia
#12
Ana Franco, José Pimentel, Alexandre Rainha Campos, Carlos Morgado, Sara Pinelo, António Gonçalves Ferreira, Carla Bentes
Subcortical band heterotopia is a neuronal migration disorder that may cause refractory epilepsy. In these patients, resective surgery has yielded inadequate results. Deep brain stimulation of the anterior nuclei of the thalamus has been used for the treatment of refractory epilepsy with good results. We describe the first two patients with subcortical band heterotopia who were submitted to deep brain stimulation of the anterior nuclei of the thalamus, with evaluation of seizure outcome after 12 and 18 months of follow-up...
December 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27940503/inhibition-of-nonsense-mediated-rna-decay-by-er-stress
#13
Zhelin Li, John K Vuong, Min Zhang, Cheryl Stork, Sika Zheng
Nonsense-mediated RNA decay (NMD) selectively degrades mutated and aberrantly processed transcripts that contain premature termination codons (PTC). Cellular NMD activity is typically assessed using exogenous PTC-containing reporters. We overcame some inherently problematic aspects of assaying endogenous targets and developed a broadly applicable strategy to reliably and easily monitor changes in cellular NMD activity. Our new method was genetically validated for distinguishing NMD regulation from transcriptional control and alternative splicing regulation, and unexpectedly disclosed different sensitivity of NMD targets to NMD inhibition...
December 9, 2016: RNA
https://www.readbyqxmd.com/read/27935021/screening-and-evaluation-tools-of-dysphagia-in-children-with-neuromuscular-diseases-a-systematic-review
#14
REVIEW
Nicolas Audag, Christophe Goubau, Michel Toussaint, Gregory Reychler
AIM: Dysphagia is frequent in paediatric patients with neuromuscular diseases (pNMD). Its detection is important for initiating early diagnosis and treatment as well as for minimizing related complications. The aim of this study was to review the literature on dysphagia screening and evaluation tools in pNMD. METHOD: A systematic review was performed on the basis of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Three databases (PubMed, CINAHL, and ScienceDirect) were searched...
December 9, 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27932555/mouthpiece-ventilation-and-complementary-techniques-in-patients-with-neuromuscular-disease-a-brief-clinical-review-and-update
#15
Tiago Pinto, Michelle Chatwin, Paolo Banfi, Joao Carlos Winck, Antonello Nicolini
Noninvasive ventilatory support (NVS) is sometimes reported as suboptimal in patients with neuromuscular disease (NMD). The reasons for this include inadequate ventilator settings and/or lack of interface tolerance. NVS has been used for many years in patients with NMD disorders as a viable alternative to continuous ventilatory support via a tracheostomy tube. The mouthpiece ventilation (MPV) is a ventilatory mode that is used as daytime ventilatory support in combination with other ventilatory modalities and interfaces for nocturnal NVS...
December 8, 2016: Chronic Respiratory Disease
https://www.readbyqxmd.com/read/27927941/a-population-based-epidemiologic-study-of-adult-neuromuscular-disease-in-the-republic-of-ireland
#16
Stela Lefter, Orla Hardiman, Aisling M Ryan
OBJECTIVE: To estimate the prevalence rates (PRs) of acquired and inherited neuromuscular diseases (NMD) in the adult Irish population, reflecting the burden of these conditions in a single country. METHODS: This population-based study was performed in the Republic of Ireland (RoI), with a PR estimated for December 2013. Multiple case ascertainment sources were utilized. Demographic and clinical information and relevant diagnostic results were registered. RESULTS: A total of 2,641 adults were identified, giving a PR of 62...
December 7, 2016: Neurology
https://www.readbyqxmd.com/read/27927164/the-role-of-nucleotide-composition-in-premature-termination-codon-recognition
#17
Fouad Zahdeh, Liran Carmel
BACKGROUND: It is not fully understood how a termination codon is recognized as premature (PTC) by the nonsense-mediated decay (NMD) machinery. This is particularly true for transcripts lacking an exon junction complex (EJC) along their 3' untranslated region (3'UTR), and thus degrade through the EJC-independent NMD pathway. RESULTS: Here, we analyzed data of transcript stability change following NMD repression and identified over 200 EJC-independent NMD-targets...
December 7, 2016: BMC Bioinformatics
https://www.readbyqxmd.com/read/27918561/a-human-microprotein-that-interacts-with-the-mrna-decapping-complex
#18
Nadia G D'Lima, Jiao Ma, Lauren Winkler, Qian Chu, Ken H Loh, Elizabeth O Corpuz, Bogdan A Budnik, Jens Lykke-Andersen, Alan Saghatelian, Sarah A Slavoff
Proteomic detection of non-annotated microproteins indicates the translation of hundreds of small open reading frames (smORFs) in human cells, but whether these microproteins are functional or not is unknown. Here, we report the discovery and characterization of a 7-kDa human microprotein we named non-annotated P-body dissociating polypeptide (NoBody). NoBody interacts with mRNA decapping proteins, which remove the 5' cap from mRNAs to promote 5'-to-3' decay. Decapping proteins participate in mRNA turnover and nonsense-mediated decay (NMD)...
December 5, 2016: Nature Chemical Biology
https://www.readbyqxmd.com/read/27917860/interrogating-the-degradation-pathways-of-unstable-mrnas-with-xrn1-resistant-sequences
#19
Volker Boehm, Jennifer V Gerbracht, Marie-Charlotte Marx, Niels H Gehring
The turnover of messenger RNAs (mRNAs) is a key regulatory step of gene expression in eukaryotic cells. Due to the complexity of the mammalian degradation machinery, the contribution of decay factors to the directionality of mRNA decay is poorly understood. Here we characterize a molecular tool to interrogate mRNA turnover via the detection of XRN1-resistant decay fragments (xrFrag). Using nonsense-mediated mRNA decay (NMD) as a model pathway, we establish xrFrag analysis as a robust indicator of accelerated 5'-3' mRNA decay...
December 5, 2016: Nature Communications
https://www.readbyqxmd.com/read/27916859/postnatal-gene-therapy-improves-spatial-learning-despite-the-presence-of-neuronal-ectopia-in-a-model-of-neuronal-migration-disorder
#20
Huaiyu Hu, Yu Liu, Kevin Bampoe, Yonglin He, Miao Yu
Patients with type II lissencephaly, a neuronal migration disorder with ectopic neurons, suffer from severe mental retardation, including learning deficits. There is no effective therapy to prevent or correct the formation of neuronal ectopia, which is presumed to cause cognitive deficits. We hypothesized that learning deficits were not solely caused by neuronal ectopia and that postnatal gene therapy could improve learning without correcting the neuronal ectopia formed during fetal development. To test this hypothesis, we evaluated spatial learning of cerebral cortex-specific protein O-mannosyltransferase 2 (POMT2, an enzyme required for O-mannosyl glycosylation) knockout mice and compared to the knockout mice that were injected with an adeno-associated viral vector (AAV) encoding POMT2 into the postnatal brains with Barnes maze...
November 29, 2016: Genes
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