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https://www.readbyqxmd.com/read/27920806/hereditary-multiple-exostoses-a-review-of-clinical-appearance-and-metabolic-pattern
#1
REVIEW
Giovanni Beltrami, Gabriele Ristori, Guido Scoccianti, Angela Tamburini, Rodolfo Capanna
Hereditary multiple exostoses (HME) is an inherited genetic condition characterized by the presence of multiple exostoses (osteochondromas). MHE is a relatively rare autosomal dominant disorder, mainly caused by loss of function mutations in two genes: exostosin-1 (EXT1) and exostosin-2 (EXT2). These genes are linked to heparan sulfate (HS) synthesis, but the specific molecular mechanism leading to the disruption of the cartilage structure and the consequent exostoses formation is still not resolved. The aim of this paper is to encounter the main aspects of HME reviewing the literature, in order to improve clinical features and evolution, and the metabolic-pathogenetic mechanisms underlying...
May 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/27920787/interactive-effects-of-elevated-co2-and-water-stress-on-physiological-traits-and-gene-expression-during-vegetative-growth-in-four-durum-wheat-genotypes
#2
Susan Medina, Rubén Vicente, Amaya Amador, José Luis Araus
The interaction of elevated [CO2] and water stress will have an effect on the adaptation of durum wheat to future climate scenarios. For the Mediterranean basin these scenarios include the rising occurrence of water stress during the first part of the crop cycle. In this study, we evaluated the interactive effects of elevated [CO2] and moderate to severe water stress during the first part of the growth cycle on physiological traits and gene expression in four modern durum wheat genotypes. Physiological data showed that elevated [CO2] promoted plant growth but reduced N content...
2016: Frontiers in Plant Science
https://www.readbyqxmd.com/read/27920020/repeated-failed-non-invasive-prenatal-testing-in-a-woman-with-immune-thrombocytopenia-and-antiphospholipid-syndrome-lessons-learnt
#3
C Y Y Hui, W C Tan, E L Tan, L K Tan
We present a case of a 37-year-old Chinese woman (gravida 4 para 0) with a history of immune thrombocytopenia and type IIb antiphospholipid syndrome. She was started on 100 mg of aspirin, 20 mg of prednisolone and 20 mg of subcutaneous low-molecular-weight heparin daily for her fourth pregnancy. She opted for non-invasive prenatal testing for aneuploidy screening but had failed results three times consecutively from insufficient fetal cfDNA initially or high variance in cfDNA counts on redraws. She declined invasive karyotyping...
December 5, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27919118/preeclampsia-and-the-risk-of-bronchopulmonary-dysplasia-in-preterm-infants-less-than-32-weeks-gestation
#4
Nancy Soliman, Kathleen Chaput, Belal Alshaikh, Kamran Yusuf
Objective Angiogenesis is essential for normal lung development. The objective of our study was to test the hypothesis that preeclampsia, an antiangiogenic state, is a risk factor for bronchopulmonary dysplasia (BPD). Design Prospective cohort study of infants less than 32 weeks' gestation born to mothers with preeclampsia between January 2007 and June 2010 at a single tertiary care center. Their BPD outcome was compared with infants born to the next two normotensive mothers with a ± 1 week gestational age difference...
December 5, 2016: American Journal of Perinatology
https://www.readbyqxmd.com/read/27918828/peripapillary-choroidal-thickness-in-former-preterm-and-full-term-infants-aged-from-4-to-10-years
#5
Achim Fieß, Luka Christian, Ruth Kölb-Keerl, Markus Knuf, Bernd Kirchhof, Philipp S Muether, Jacqueline Bauer
Purpose: The aim of the study was to investigate peripapillary choroidal thickness in former preterm and full-term infants with spectral-domain optical coherence tomography (SD-OCT). Methods: Subanalysis of infants with successful peripapillary choroidal thickness measurements of a prospective, controlled, cross-sectional, hospital-based study in a tertiary center of maximum care. The study examined 503 infants aged 4 to 10 years at the time of examination. Infants were divided into different groups: group 1 born with gestational age (GA) ≥37 weeks, group 2 born with GA between 29 and 32 weeks without ROP (retinopathy of prematurity), group 3 born with GA ≤28 weeks without ROP, and group 4 born with GA ≤32 weeks and presence of ROP...
December 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27918167/-coeliac-disease-as-a-possible-cause-of-some-gynecological-and-obstetric-abnormalities
#6
K Fiolková, K Biringer, M Hrtánková, R Fiolka, J Danko
OBJECTIVE: To bring a review of available literature sources on the prevalence of coeliac disease and its possible impact on gynecological and obstetric disorders. DESIGN: Review article. SETTING: Gynecology and Obstetrics Clinic, Jessenius Faculty of Medicine, Comenius University in Bratislava, Martin, Slovakia. METHODS: Analysis of literary sources. CONCLUSION: Coeliac disease is an autoimmune enteropathy caused by abnormal immune system response to gluten...
2016: Ceská Gynekologie
https://www.readbyqxmd.com/read/27917469/association-of-dysfunctional-synapse-defective-1-syde1-with-restricted-fetal-growth-syde1-regulates-placental-cell-migration-and-invasion
#7
Hsiao-Fan Lo, Ching-Yen Tsai, Chie-Pein Chen, Liang-Jie Wang, Yun-Shien Lee, Chia-Yu Chen, Chung-Tiang Liang, Mei-Leng Cheong, Hungwen Chen
The transcription factor glial cells missing 1 (GCM1) regulates trophoblast differentiation and function during placentation. Decreased GCM1 expression is associated with preeclampsia, suggesting that abnormal expression of GCM1 target genes may contribute to the pathogenesis of pregnancy complications. Here we identified a novel GCM1 target gene, synapse defective 1 (SYDE1), which encodes a RhoGAP that is highly expressed in human placenta, and demonstrated that SYDE1 promotes cytoskeletal remodelling and cell migration and invasion...
December 5, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27917187/integrating-physiology-and-architecture-in-models-of-fruit-expansion
#8
Mikolaj Cieslak, Ibrahim Cheddadi, Frédéric Boudon, Valentina Baldazzi, Michel Génard, Christophe Godin, Nadia Bertin
Architectural properties of a fruit, such as its shape, vascular patterns, and skin morphology, play a significant role in determining the distributions of water, carbohydrates, and nutrients inside the fruit. Understanding the impact of these properties on fruit quality is difficult because they develop over time and are highly dependent on both genetic and environmental controls. We present a 3D functional-structural fruit model that can be used to investigate effects of the principle architectural properties on fruit quality...
2016: Frontiers in Plant Science
https://www.readbyqxmd.com/read/27916232/neuroinflammation-in-intrauterine-growth-restriction
#9
REVIEW
Julie A Wixey, Kirat K Chand, Paul B Colditz, S Tracey Bjorkman
Disruption to the maternal environment during pregnancy from events such as hypoxia, stress, toxins, inflammation, and reduced placental blood flow can affect fetal development. Intrauterine growth restriction (IUGR) is commonly caused by chronic placental insufficiency, interrupting supply of oxygen and nutrients to the fetus resulting in abnormal fetal growth. IUGR is a major cause of perinatal morbidity and mortality, occurring in approximately 5-10% of pregnancies. The fetal brain is particularly vulnerable in IUGR and there is an increased risk of long-term neurological disorders including cerebral palsy, epilepsy, learning difficulties, behavioural difficulties and psychiatric diagnoses...
November 25, 2016: Placenta
https://www.readbyqxmd.com/read/27915981/molecular-cellular-and-pharmaceutical-aspects-of-autologous-grafts-for-peri-implant-hard-and-soft-tissue-defects
#10
Jiayu Lu, Yongming Hao, Wei Zhao, Chengqi Lv, Derong Zou
The lack of supporting hard and soft tissues always prevents the rehabilitation with dental implants. Among various hard and soft tissue augmentation procedures, autologous grafts have been considered to be the gold standard. Autologous mesenchymal stem cells (MSCs) from bone marrow, dental tissue and adipose tissue have been described as promising alternatives for bone regeneration in the field of dental implantation. Mucosal cells, gingival fibroblasts and dental progenitor cells (DPS) can enhance peri-implant soft tissue augmentation and regenerate periodontal tissues around dental implants...
December 1, 2016: Current Pharmaceutical Biotechnology
https://www.readbyqxmd.com/read/27915495/placental-respiratory-chain-complex-activities-in-high-risk-pregnancies
#11
Mojtaba Beyramzadeh, Zeliha Gunnur Dikmen, Nergiz K Erturk, Zafer Selcuk Tuncer, Filiz Akbiyik
OBJECTIVES: Mitochondrial oxidative phosphorylation is the key energy source for placental functions and fetal growth. The purpose of this study was to investigate the function of placenta in high risk pregnancies by measuring mitochondrial respiratory chain complex (RCC) activities, and to evaluate the correlation between double test risk ratio and RCC activities. METHODS: The placenta samples were collected from 50 pregnant women. The controls consisted of 20 normal uncomplicated pregnancies and the study group (n = 30) consisted of preeclampsia (PE), intrauterin growth restriction (IUGR), advanced maternal age (AMA), twins and preterm deliveries...
December 5, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27915340/2q33-1q34-deletion-in-a-girl-with-brain-anomalies-and-anorectal-malformation
#12
Luisa Ronzoni, Antonio Novelli, Giulia Brisighelli, Angela Peron, Fabio Triulzi, Vera Bianchi, Ernesto Leva, Maria F Bedeschi
2q33 deletions are considered to constitute a distinct clinical entity (Glass syndrome or 2q33 microdeletion syndrome) with a characteristic phenotype. Most patients have moderate to severe developmental delay, speech delay, a particular behavioural phenotype, feeding problems, growth restriction, a typical facial appearance, thin and sparse hair, tooth abnormalities, and skeletal anomalies. Here, we report on a patient with a 2q33.1q34 deletion spanning 8.3 Mb of genomic DNA. Although her clinical features are very reminiscent of the 2q33 microdeletion syndrome, she also presented with brain and anorectal malformations...
December 3, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27915321/anti-vascular-endothelial-growth-factor-preparations-in-the-treatment-of-retinopathy-of-prematurity-balancing-risks-and-benefits
#13
Deepak Chawla, Brian A Darlow
NEED AND PURPOSE OF REVIEW: The standard of management of severe retinopathy of prematurity (ROP) is laser ablation of the peripheral retina. Intra-vitreal injection of anti- vascular endothelial growth factor antibodies has emerged as an alternative modality of treatment of ROP. The purpose of this review is to evaluate the current evidence on benefits and risks of using anti-VEGF antibodies for management of ROP. METHODS: PubMed and Cochrane Register of Clinical Trials were searched for studies evaluating role of anti-VEGF agents in ROP...
November 7, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27915174/molecular-and-physiological-responses-of-iranian-perennial-ryegrass-as-affected-by-trinexapac-ethyl-paclobutrazol-and-abscisic-acid-under-drought-stress
#14
Mohammad Hossein Sheikh Mohammadi, Nematollah Etemadi, Mohammad Mehdi Arab, Mostafa Aalifar, Mostafa Arab, Mohammad Pessarakli
Drought stress is the major limiting factor which affects turfgrass management in area with restricted rainfall or irrigation water supply. Trinexapac ethyl (TE), Paclobutrazol (PAC) and Abscisic acid (ABA) are three plant growth regulators (PGRs) that are commonly used on turf species for increasing their tolerance to different environmental stresses such as drought. However, little is known about the impact of PGRs on stress tolerance of Iranian Perennial ryegrass (Lolium perenne). The present study was conducted to examine the visual and physiological changes of Iranian Perennial ryegrass in response to foliar application of TE, PAC, and ABA under drought stress conditions...
November 27, 2016: Plant Physiology and Biochemistry: PPB
https://www.readbyqxmd.com/read/27915126/stroke-risk-stratification-and-its-validation-using-ultrasonic-echolucent-carotid-wall-plaque-morphology-a-machine-learning-paradigm
#15
Tadashi Araki, Pankaj K Jain, Harman S Suri, Narendra D Londhe, Nobutaka Ikeda, Ayman El-Baz, Vimal K Shrivastava, Luca Saba, Andrew Nicolaides, Shoaib Shafique, John R Laird, Ajay Gupta, Jasjit S Suri
Stroke risk stratification based on grayscale morphology of the ultrasound carotid wall has recently been shown to have a promise in classification of high risk versus low risk plaque or symptomatic versus asymptomatic plaques. In previous studies, this stratification has been mainly based on analysis of the far wall of the carotid artery. Due to the multifocal nature of atherosclerotic disease, the plaque growth is not restricted to the far wall alone. This paper presents a new approach for stroke risk assessment by integrating assessment of both the near and far walls of the carotid artery using grayscale morphology of the plaque...
November 27, 2016: Computers in Biology and Medicine
https://www.readbyqxmd.com/read/27914214/antithrombin-improves-the-maternal-and-neonatal-outcomes-but-not-the-angiogenic-factors-in-extremely-growth-restricted-fetuses-at-28-weeks-of-gestation
#16
Midori Fujisaki, Ken Furuta, Masanao Ohhashi, Seishi Furukawa, Yuki Kodama, Yasuyuki Kawagoe, Hiroshi Sameshima, Tsuyomu Ikenoue
AIMS: Severe preterm fetal growth restriction (FGR) remote from term is problematic. We aimed to investigate the effect of maternally-administered antithrombin on maternal and neonatal outcomes. A prospective, one-arm, pilot study was performed in 14 women with severe FGR (≤5th centile) at <28 weeks of gestation, without hypertensive disorders. Maternal plasma concentrations of soluble Feline McDonough Sarcoma (FMS)-like trypsin kinase-1 (sFlt-1) and placental growth factor (PlGF) were measured and categorized into three groups: group 1; low sFlt-1 and high PlGF, group 2; moderate sFlt-1 and low PlGF, and group 3; high sFlt-1 and low PlGF...
December 3, 2016: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/27913741/aik1-a-mitogen-activated-protein-kinase-modulates-abscisic-acid-responses-through-the-mkk5-mpk6-kinase-cascade
#17
Kun Li, Fengbo Yang, Guozeng Zhang, Shufei Song, Yuan Li, Yuchen Miao, Dongtao Ren, Chun-Peng Song
The mitogen-activated protein kinase (MAPK) cascade is an evolutionarily conserved signal transduction module involved in transducing extracellular signals to the nucleus for appropriate cellular adjustment. This cascade essentially consists of three components, a MAPK kinase kinase (MAPKKK), a MAPK kinase (MAPKK) and a MAPK, connected to each other by the event of phosphorylation. Here we report the characterization of a MAPKKK, AIK1, which regulates abscisic acid (ABA) responses in Arabidopsis. T-DNA insertion mutants of AIK1 showed insensitivity to ABA in terms of both root growth and stomatal response...
December 2, 2016: Plant Physiology
https://www.readbyqxmd.com/read/27913122/-postnatal-growth-at-hospital-discharge-in-extremely-premature-newborns-in-spain
#18
Fermín García-Muñoz Rodrigo, Josep Figueras Aloy, Pedro Saavedra Santana, Alfredo García-Alix
INTRODUCTION: Postnatal growth restriction is considered a universal problem in extremely premature infants (EPI), and causes great concern due to the possible relationship between nutrition, sub-optimal postnatal growth, and neurodevelopment delay. OBJECTIVES: To describe the weight gain in EPI and to determine the changes in the length and head circumference (HC) at hospital discharge in survivors. PATIENTS AND METHODS: The study included 4,520 Caucasian EPI from single pregnancies and without severe malformations, born in the centres participating in the Spanish SEN1500 network (2002-2011)...
November 29, 2016: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/27911983/fibrin-glue-versus-sutures-for-conjunctival-autografting-in-primary-pterygium-surgery
#19
REVIEW
Vito Romano, Mario Cruciani, Luigi Conti, Luigi Fontana
BACKGROUND: Pterygium, a growth of the conjunctiva over the cornea, is a progressive disease leading in advanced stages to visual impairment, restriction of ocular motility, chronic inflammation and cosmetic concerns. Surgical removal is the treatment of choice, but recurrence can be a problem. Currently the best surgical option in terms of recurrence is conjunctival autograft. To date the most common surgical methods of attaching conjunctival autografts to the sclera are through suturing or fibrin glue...
December 2, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27909691/6q24-transient-neonatal-diabetes-how-to-manage-while-waiting-for-genetic-results
#20
Julie Fudvoye, Khaldoun Farhat, Virginie De Halleux, Corina Ramona Nicolescu
Diabetes, rare in the neonatal period, should be evoked in every newborn presenting with unexplained intrauterine and early postnatal growth retardation. This case report illustrates the clinical course and therapeutic approach of a newborn diagnosed with transient diabetes. The baby was born at 37 weeks of gestation with a severe intrauterine growth restriction. Except a mild macroglossia and signs of growth restriction, physical examination was normal. On the fifth day of life, hyperglycemia (180 mg/dl) was noted, and the next day, the diagnosis of diabetes was confirmed (high blood sugar, glucosuria, undetectable levels of insulin and C-peptide)...
2016: Frontiers in Pediatrics
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