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AT-3 deficiency

Igor Govorov, Signe Löfgren, Roza Chaireti, Margareta Holmström, Katarina Bremme, Miriam Mints
INTRODUCTION: von Willebrand disease (VWD) is a hereditary bleeding disorder, caused by a deficiency in the levels and/or function of von Willebrand factor (VWF). Women with VWD appear to be at increased risk of experiencing postpartum hemorrhage (PPH), though the levels of VWF increase during pregnancy. There is limited knowledge of how PPH is associated with the subtype of VWD, plasma levels of other coagulations factors than VWF and given hemostatic treatment. AIMS: The aims were to investigate the incidence of PPH in women with VWD and to analyse the correlation between PPH and: (1) type of VWD, (2) laboratory monitoring of VWF and FVIII and (3) hemostatic drug treatment...
2016: PloS One
Ramnath Subbaraman, Ruvandhi R Nathavitharana, Srinath Satyanarayana, Madhukar Pai, Beena E Thomas, Vineet K Chadha, Kiran Rade, Soumya Swaminathan, Kenneth H Mayer
BACKGROUND: India has 23% of the global burden of active tuberculosis (TB) patients and 27% of the world's "missing" patients, which includes those who may not have received effective TB care and could potentially spread TB to others. The "cascade of care" is a useful model for visualizing deficiencies in case detection and retention in care, in order to prioritize interventions. METHODS AND FINDINGS: The care cascade constructed in this paper focuses on the Revised National TB Control Programme (RNTCP), which treats about half of India's TB patients...
October 2016: PLoS Medicine
Zhiwen Zhu, Yongping Chai, Yuxiang Jiang, Wenjing Li, Huifang Hu, Wei Li, Jia-Wei Wu, Zhi-Xin Wang, Shanjin Huang, Guangshuo Ou
Directional cell migration is critical for metazoan development. We define two molecular pathways that activate the Arp2/3 complex during neuroblast migration in Caenorhabditis elegans. The transmembrane protein MIG-13/Lrp12 is linked to the Arp2/3 nucleation-promoting factors WAVE or WASP through direct interactions with ABL-1 or SEM-5/Grb2, respectively. WAVE mutations partially impaired F-actin organization and decelerated cell migration, and WASP mutations did not inhibit cell migration but enhanced migration defects in WAVE-deficient cells...
October 24, 2016: Developmental Cell
Ahmad Salimi, Mehryar Habibi Roudkenar, Leila Sadeghi, Alireza Mohseni, Enayatollah Seydi, Nahal Pirahmadi, Jalal Pourahmad
The present study investigates the in vitro and in vivo effect of acacetin (4'-methoxy-5,7-dihydroxyflavone) on chronic lymphocytic leukemia (CLL) B-lymphocytes and mitochondria. CLL B-lymphocytes and healthy B-lymphocytes were obtained from CLL patients and healthy donors, respectively. Mitochondria were isolated from B-lymphocytes of both groups. Xenografts in severe combined immune deficient mice were used to examine the toxicity and anti CLL activity of acacetin. We evaluated and compared the mechanism of action of acacetin on CLL and healthy B-lymphocytes and their mitochondria...
October 25, 2016: Nutrition and Cancer
O Nemes, N Kovacs, Sz Szujo, B Bodis, L Bajnok, A Buki, T Doczi, E Czeiter, E Mezosi
BACKGROUND: Post-traumatic hypopituitarism is a major complication after severe head trauma. The aim of our study was to evaluate the possible role of early clinical parameters in the development of endocrine deficits. METHODS: Data on endocrine function, on-admission clinical-, laboratory-, and ICU-monitored parameters were available in 63 patients of the surviving 86 severe head injury patients (post-resuscitation GCS under 8) treated at one neurosurgical center during a 10-year period...
October 25, 2016: Acta Neurochirurgica
Farahnaz Golriz, Lane F Donnelly, Sridevi Devaraj, Raj Krishnamurthy
BACKGROUND: Until recently scurvy has been viewed in developed countries as a disease of the past. More recently there have been reports of case series of children with scurvy who have had a delayed diagnosis after an extensive diagnostic workup that included imaging. Most of these children have had underlying neurologic conditions such as autism. OBJECTIVE: To review the medical records of children diagnosed with vitamin C (ascorbic acid) deficiency based on serum ascorbic acid levels at a large pediatric health care system, to determine imaging findings and utility of imaging in management, and to identify at-risk pediatric populations...
October 24, 2016: Pediatric Radiology
Ja Hyang Cho, Eungu Kang, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A) is an autosomal recessively-inherited disorder caused by mutations in CYP27B1 encoding the 1α-hydroxylase enzyme. We report on a female patient with VDDR1A who presented with hypocalcemic seizure at the age of 13 months. The typical clinical and biochemical features of VDDR1A were found, such as hypocalcemia, increased alkaline phosphatase, secondary hyperparathyroidism and normal 25-hydroxyvitamin D3 (25(OH)D3). Radiographic images of the wrist showed metaphyseal widening with cupping and fraying of the ulna and distal radius, suggesting rickets...
September 2016: Annals of Pediatric Endocrinology & Metabolism
Young Eun Roh, Bo Ryung Kim, Won Bok Choi, Young Mi Kim, Min-Jung Cho, Hye-Young Kim, Kyung Hee Park, Kwang Hoon Kim, Peter Chun, Su Young Kim, Min Jung Kwak
PURPOSE: This study investigated the prevalence and risk factors associated with vitamin D deficiency in children. METHODS: We analyzed the medical records of 330 patients from the age of 6 to 12, who visited the endocrinology clinic of the Department of Pediatrics at Pusan National University Hospital, from September, 2013 to May, 2014. According to their serum 25-hydroxyvitamin D (25(OH)D) levels, the patients were grouped into either the deficiency group (25(OH)D<20 ng/mL), or the sufficiency group (25(OH)D≥20 ng/mL)...
September 2016: Annals of Pediatric Endocrinology & Metabolism
Owain Thomas, Hampus Rein, Karin Strandberg, Ulf Schött
BACKGROUND: The risk of spinal haematoma in patients receiving epidural catheters is estimated using routine coagulation tests, but guidelines are inconsistent in their recommendations on what to do when results indicate slight hypocoagulation. Postoperative patients are prone to thrombosis, and thromboelastometry has previously shown hypercoagulation in this setting. We aimed to better understand perioperative haemostasis by comparing results from routine and advanced tests, hypothesizing that patients undergoing major upper gastrointestinal surgery would be deficient in vitamin K-dependent coagulation factors because of malnutrition, or hypocoagulative because of accumulation of low molecular weight heparin (LMWH)...
2016: Perioperative Medicine
Doc Mariano, D de Souza, D F Meinerz, J Allebrandt, A F de Bem, W Hassan, Oed Rodrigues, Jbt da Rocha
Acquired immunodeficiency syndrome (AIDS) is a worldwide disease characterized by impairments of immune function. AIDS can be associated with oxidative stress (OS) that can be linked to selenium (Se) deficiency. Se is fundamental for the synthesis of selenoproteins, such as glutathione peroxidase and thioredoxin reductase. These enzymes catalyze the decomposition of reactive oxygen species and contribute to maintain equilibrium in cell redox status. Literature data indicate that organoselenium compounds, such as ebselen and diphenyl diselenide, have antioxidant properties in vitro and in vivo models associated with OS...
October 24, 2016: Human & Experimental Toxicology
Jacquelyn M Powers, Mark Shamoun, Timothy L McCavit, Leah Adix, George R Buchanan
OBJECTIVE: To assess the benefits and risks of intravenous (IV) ferric carboxymaltose (FCM) in children with iron deficiency anemia (IDA). STUDY DESIGN: In a retrospective cohort study of patients seen at our center, we identified all FCM infusions in children with IDA over a 12-month period through a query of pharmacy records. Clinical data, including hematologic response and adverse effects, were extracted from the electronic medical record. RESULTS: A total of 116 IV FCM infusions were administered to 72 patients with IDA refractory to oral iron treatment (median age, 13...
October 21, 2016: Journal of Pediatrics
A Turkova, E Chappell, S Chalermpantmetagul, M Della Negra, A Volokha, N Primak, S Solokha, V Rozenberg, G Kiselyova, E Yastrebova, M Miloenko, N Bashakatova, S Kanjanavanit, J Calvert, P Rojo, S Ansone, G Jourdain, R Malyuta, R Goodall, A Judd, C Thorne
SETTING: Centres participating in the Paediatric European Network for Treatment of AIDS (PENTA), including Thailand and Brazil. OBJECTIVE: To describe the incidence, presentation, treatment and treatment outcomes of tuberculosis (TB) in human immunodeficiency virus (HIV) infected children. DESIGN: Observational study of TB diagnosed in HIV-infected children in 2011-2013. RESULTS: Of 4265 children aged <16 years, 127 (3%) were diagnosed with TB: 6 (5%) in Western Europe, 80 (63%) in Eastern Europe, 27 (21%) in Thailand and 14 (11%) in Brazil, with estimated TB incidence rates of respectively 239, 982, 1633 and 2551 per 100 000 person-years (py)...
November 2016: International Journal of Tuberculosis and Lung Disease
Aoife Hayes, Kevin D Cashman
Recent re-evaluations of dietary reference values (DRV) for vitamin D have established intake requirements between 10 and 20 µg/d. National nutrition surveys indicate that habitual mean intakes of vitamin D in the population are typically in the range 3-7 µg/d. As vitamin D supplementation will not be effective at a population level because the uptake is generally low, creative food-based solutions are needed to bridge the gap between current intakes and these new requirement values. The overarching aim of this review is to highlight how food-based solutions can have an important role in bridging this gap and counteracting vitamin D inadequacy in Europe and elsewhere...
October 25, 2016: Proceedings of the Nutrition Society
Eric Liow, Rosemin Kassam, Richard Sekiwunga
BACKGROUND: A large number of caregivers in Uganda rely on the private drug delivery sector to manage childhood illnesses such as malaria. In rural settings where the formal private sector is scarce, unlicensed retail drug outlets are an important initial source of care for households. Despite their abundance, little is known about them. This study explores unlicensed retail drug outlet vendors' perceptions of their practice and social environment in one rural district of Uganda. MATERIALS AND METHODS: A qualitative design using semi-structured interviews was conducted with vendors from unlicensed retail drug outlets across all 10 sub-counties of Butaleja District...
October 19, 2016: Acta Tropica
Denise Mathes, Johannes Weirather, Peter Nordbeck, Anahi-Paula Arias-Loza, Matthias Burkard, Christina Pachel, Thomas Kerkau, Niklas Beyersdorf, Stefan Frantz, Ulrich Hofmann
OBJECTIVE: The present study analyzed the effect of CD4(+) Forkhead box protein 3 negative (Foxp3(-)) T-cells and Foxp3(+) CD4(+) T-cells on infarct size in a mouse myocardial ischemia-reperfusion model. APPROACH AND RESULTS: We examined the infarct size as a fraction of the area-at-risk as primary study endpoint in mice after 30minutes of coronary ligation followed by 24hours of reperfusion. CD4(+) T-cell deficient MHC-II KO mice showed smaller histologically determined infarct size (34...
October 19, 2016: Journal of Molecular and Cellular Cardiology
Baoxin Liu, Yong Li, Jiachen Luo, Liming Dai, Jinlong Zhao, Hongqiang Li, Qiqiang Jie, Dongzhi Wang, Xin Huang, Yidong Wei
OBJECTIVES: To examine plasma protein Z (PZ) levels in acute myocardial infarction (AMI) and chronic coronary atherosclerosis disease (CCAD) patients without history of AMI and explore its potential clinical significance. METHODS: Plasma PZ concentrations were measured in 90 AMI patients (Group A), 87 CCAD patients without AMI history who remained free of major clinical events at least one year (Group B), and 88 clinically healthy controls (Group C). RESULTS: PZ was found to be significantly lower (P<0...
October 13, 2016: Thrombosis Research
Cho-Ming Chao, Faady Yahya, Alena Moiseenko, Caterina Tiozzo, Amit Shrestha, Negah Ahmadvand, Elie El Agha, Jennifer Quantius, Salma Dilai, Vahid Kheirollahi, Matthew Jones, Jochen Wilhem, Gianni Carraro, Harald Ehrhardt, Klaus-Peter Zimmer, Guillermo Barreto, Katrin Ahlbrecht, Rory E Morty, Susanne Herold, Rosanna G Abellar, Werner Seeger, Ralph Schermuly, Jin-San Zhang, Parviz Minoo, Saverio Bellusci
Inflammation-induced FGF10 protein deficiency is associated with bronchopulmonary dysplasia (BPD), a chronic lung disease of prematurely born infants characterized by arrested alveolar development. So far, experimental evidence for a direct role of FGF10 in lung disease is lacking. Using the hyperoxia-induced neonatal lung injury as a mouse model of BPD, the impact of Fgf10 deficiency in Fgf10(+/-) versus Fgf10(+/+) pups was investigated. In normoxia, no lethality of Fgf10(+/+) or Fgf10(+/-) pups was observed...
October 22, 2016: Journal of Pathology
Alice Indini, Elisabetta Schiavello, Veronica Biassoni, Luca Bergamaschi, Maria Chiara Magni, Nadia Puma, Stefano Chiaravalli, Federica Pallotti, Ettore Seregni, Barbara Diletto, Emilia Pecori, Lorenza Gandola, Geraldina Poggi, Maura Massimino
To assess the long-term safety of administering growth hormone (GH) in patients with GH deficiency due to treatment for childhood medulloblastoma and primitive neuroectodermal tumor (PNET). Data were retrospectively retrieved on children receiving GH supplementation, assessing their disease-free and overall survival outcomes and risk of secondary malignancies using Kaplan-Meier and Cox models. Overall 65 children were consecutively collected from May 1981 to April 2013. All patients had undergone craniospinal irradiation (total dose 18-39 Gy), and subsequently received GH for a median (interquartile range, IQR) of 81 (50...
October 21, 2016: Journal of Neuro-oncology
E Laird, T Shannon, V E F Crowley, M Healy
CONTEXT: There have been few published reports of visualising vitamin D status at a micro level, i.e., within large individual urban centres of countries. OBJECTIVE: To produce a visual map of the vitamin D status [25-hydroxy vitamin D-25(OH)D] of a large urban centre (n > 350,000) incorporating the regions of Dublin city that constitute the general practitioner catchment area of a large academic teaching adult hospital. DESIGN, SETTING AND PARTICIPANTS: An observational investigation of 5287 free living Irish adults (>18 years)...
October 21, 2016: Irish Journal of Medical Science
Adèle Coriati, Évelyne Labrèche, Marjolaine Mailhot, Hortensia Mircescu, Yves Berthiaume, Annick Lavoie, Rémi Rabasa-Lhoret
BACKGROUND & AIMS: Vitamin D (Vit D) deficiency in cystic fibrosis (CF) is partially secondary to exocrine pancreatic insufficiency. Our aim was to establish a Vit D3 supplementation protocol that will increase 25(OH)D to the recommended level (30 ng/mL). METHODS: Retrospective study of 200 patients (≥18 years) conducted from February 2007 to June 2014 at the CF clinic of the Centre Hospitalier de l'Université de Montréal. Vit D3 supplementation protocol was 1600 IU/day or 10,000 IU/week during the summer (May 1st to October 31st) and 3200 IU/day or 20,000 IU/week during the winter (November 1st to April 30th), in addition to the 1200 IU/day included in multivitamins...
October 8, 2016: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
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