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https://www.readbyqxmd.com/read/28230720/role-of-vitamin-a-retinoic-acid-in-regulation-of-embryonic-and-adult-hematopoiesis
#1
REVIEW
Ana Cañete, Elena Cano, Ramón Muñoz-Chápuli, Rita Carmona
Vitamin A is an essential micronutrient throughout life. Its physiologically active metabolite retinoic acid (RA), acting through nuclear retinoic acid receptors (RARs), is a potent regulator of patterning during embryonic development, as well as being necessary for adult tissue homeostasis. Vitamin A deficiency during pregnancy increases risk of maternal night blindness and anemia and may be a cause of congenital malformations. Childhood Vitamin A deficiency can cause xerophthalmia, lower resistance to infection and increased risk of mortality...
February 20, 2017: Nutrients
https://www.readbyqxmd.com/read/28230264/isolated-aneurysms-of-the-membranous-ventricular-septum-without-residual-shunts-systematic-review-and-description-of-3-cases-in-adults
#2
REVIEW
Ali Abdul Jabbar, Omar Mufti, Wojciech Mazur, Muhammad Bilal Quraishi, Bal K Srivastava, Vijay Tivakaran
A ventricular septal defect is the most common congenital cardiac abnormality encountered in infants and children. Many of them survive through adulthood before diagnosis. Two-thirds of the cases involve the membranous part of the septum. In the absence of an interventricular shunt or concomitant cardiac surgery, guidelines for surgical intervention or resection of isolated aneurysms of the membranous septum are not well established. In this report, we discuss a multi-imaging modality approach for the diagnosis and assessment of membranous ventricular septal aneurysms and review the experts' consensuses for follow-up and treatment strategies...
February 23, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28229475/first-cases-of-zika-virus-infected-us-blood-donors-outside-states-with-areas-of-active-transmission
#3
Phillip C Williamson, Jeffrey M Linnen, Debra A Kessler, Beth H Shaz, Hany Kamel, Ralph R Vassallo, Valerie Winkelman, Kui Gao, Rainer Ziermann, Juscilene Menezes, Stephen Thomas, Jerry A Holmberg, Sonia Bakkour, Mars Stone, Kai Lu, Graham Simmons, Michael P Busch
BACKGROUND: Zika virus (ZIKV) is transmitted by Aedes mosquitos and can result in severe congenital and adult neurologic abnormalities. ZIKV has rapidly spread northward through Central America and the Caribbean and autochthonous cases have been identified in the continental United States. High rates of ZIKA RNA positivity were detected in blood donors during previous epidemics. ZIKV transmission by transfused blood from healthy donor components has been a growing concern. STUDY DESIGN AND METHODS: Individual-donation aliquots of plasma from volunteer blood donors were tested individually with an investigational Procleix ZIKV assay...
February 23, 2017: Transfusion
https://www.readbyqxmd.com/read/28229397/emerging-causes-of-arbovirus-encephalitis-in-north-america-powassan-chikungunya-and-zika-viruses
#4
REVIEW
Christopher T Doughty, Sigal Yawetz, Jennifer Lyons
Arboviruses are arthropod-borne viruses transmitted by the bite of mosquitoes, ticks, or other arthropods. Arboviruses are a common and an increasing cause of human illness in North America. Powassan virus, Chikungunya virus, and Zika virus are arboviruses that have all recently emerged as increasing causes of neurologic illness. Powassan virus almost exclusively causes encephalitis, but cases are rare, sporadic, and restricted to portions of North America and Russia. Chikungunya virus has spread widely across the world, causing millions of infections...
February 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28228871/adult-presentation-of-symptomatic-left-lung-agenesis
#5
Omer Kaya, Bozkurt Gulek, Cengiz Yilmaz, Gokhan Soker, Kaan Esen, Mehmet Ali Akin, Okan Dilek
Pulmonary agenesis is a rarely encountered congenital anomaly, and its average prevalence is about 1 in 100,000 births. Anomalies of the cardiovascular, musculoskeletal, gastrointestinal, or genitourinary systems may accompany in nearly half of the cases. The diagnosis of pulmonary agenesis is usually made during childhood, but the diagnosis may be delayed until adulthood in case of an absence of comorbid anomalies . Herein, we present a case of pulmonary agenesis that was diagnosed during adulthood.
March 2017: Radiology case reports
https://www.readbyqxmd.com/read/28228277/prospects-for-a-zika-virus-vaccine
#6
REVIEW
Dan H Barouch, Stephen J Thomas, Nelson L Michael
A recent unprecedented outbreak of Zika virus (ZIKV) in the Americas has been associated with microcephaly and other congenital malformations in infants as well as Guillain-Barre syndrome in adults. The development of a safe and effective ZIKV vaccine is therefore an urgent global health priority. Promising data from preclinical vaccine studies in mice and monkeys suggest that an effective vaccine will likely be possible, but important scientific challenges remain. Here we review the current state of ZIKV vaccine development...
February 21, 2017: Immunity
https://www.readbyqxmd.com/read/28225206/a-great-imitator-in-adult-cardiology-practice-congenitally-corrected-transposition-of-the-great-arteries
#7
Anushree Agarwal, Fatima Samad, Lindsey Kalvin, Michelle Bush, A Jamil Tajik
INTRODUCTION: Congenitally corrected transposition of the great arteries (ccTGA) is a rare congenital disease that frequently remains undiagnosed until adulthood, especially when there is an absence of other congenital anomalies. Adults with ccTGA may remain asymptomatic and their diagnosis could be missed on initial evaluation, or it could be diagnosed incidentally as an evaluation of murmur. We aim to report the different presentations of ccTGA in eight adult patients and review the key features required to suspect the diagnosis during an initial visit...
February 22, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28224294/cardio-metabolic-risk-factors-in-youth-with-classical-21-hydroxylase-deficiency
#8
Kansuda Ariyawatkul, Supatporn Tepmongkol, Suphab Aroonparkmongkol, Taninee Sahakitrungruang
: Patients with congenital adrenal hyperplasia (CAH) appear to have adverse cardiovascular risk profile and other long-term health problems in adult life, but there are limited data in young CAH patients. We aim to evaluate the cardio-metabolic risk factors in adolescents and young adults with classical 21-hydroxylase deficiency (21-OHD). We performed a cross-sectional study of 21 patients (17 females) with classic CAH detected clinically and not through newborn screening, aged 15.2 ± 5...
February 21, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28224043/pleiotropic-effect-of-a-novel-mutation-in-gcnt2-causing-congenital-cataract-and-a-rare-adult-i-blood-group-phenotype
#9
Sek-Shir Cheong, Sarah Hull, Benjamin Jones, Ravinder Chana, Nicole Thornton, Vincent Plagnol, Anthony T Moore, Alison J Hardcastle
Mutations in GCNT2 have been associated with the rare adult i blood group phenotype with or without congenital cataract. We report a novel homozygous frameshift mutation c.1163_1166delATCA, p.(Asn388Argfs*20) as the cause of congenital cataract in two affected siblings. Blood group typing confirmed that both affected males have the rare adult i phenotype, supporting the hypothesis that the partial association of I/i phenotype and congenital cataract is due to the differential expression of GCNT2 isoforms.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28223951/speechreading-in-deaf-adults-with-cochlear-implants-evidence-for-perceptual-compensation
#10
Hannah Pimperton, Amelia Ralph-Lewis, Mairéad MacSweeney
Previous research has provided evidence for a speechreading advantage in congenitally deaf adults compared to hearing adults. A 'perceptual compensation' account of this finding proposes that prolonged early onset deafness leads to a greater reliance on visual, as opposed to auditory, information when perceiving speech which in turn results in superior visual speech perception skills in deaf adults. In the current study we tested whether previous demonstrations of a speechreading advantage for profoundly congenitally deaf adults with hearing aids, or no amplificiation, were also apparent in adults with the same deafness profile but who have experienced greater access to the auditory elements of speech via a cochlear implant (CI)...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28220085/peripheral-visual-reaction-time-is-faster-in-deaf-adults-and-british-sign-language-interpreters-than-in-hearing-adults
#11
Charlotte J Codina, Olivier Pascalis, Heidi A Baseler, Alexandra T Levine, David Buckley
Following auditory deprivation, the remaining sense of vision has shown selective enhancement in visual cognition, especially in the area of near peripheral vision. Visual acuity is poor in the far periphery and may be an area where sound confers the greatest advantage in hearing persons. Experience with a visuospatial language such as British Sign Language (BSL) makes additional demands on the visual system. To test the different and separable effects of deafness and use of a visuo-spatial language on far peripheral visual processing, we investigated visual reaction times (RTs) and response accuracy to visual stimuli, between 30° and 85° along the four cardinal and four inter-cardinal meridians...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28218213/surgical-treatment-of-double-outlet-right-ventricle-complicated-by-pulmonary-hypertension
#12
Qing-Yu Wu, Dong-Hai Li, Hong-Yin Li, Ming-Kui Zhang, Zhong-Hua Xu, Hui Xue
BACKGROUND: Double outlet right ventricle (DORV) is a group of complex congenital heart abnormalities. Preoperative pulmonary hypertension (PH) is considered an important risk factor for early death during the surgical treatment of DORV. The aim of this study was to report our experience on surgical treatment of DORV complicated by PH. METHODS: From June 2004 to November 2016, 61 patients (36 males and 25 females) aged 2 weeks to 26 years (median: 0.67 years and interquartile range: 0...
2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28218016/auditory-performance-and-subjective-benefits-in-adults-with-congenital-or-prelinguistic-deafness-who-receive-cochlear-implants-during-adulthood
#13
Louise Duchesne, Isabelle Millette, Maurice Bhérer, Suzie Gobeil
OBJECTIVES: (1) To describe auditory performance and subjective benefits in adults with congenital or prelingual deafness who received a cochlear implant (CI) during adolescence or adulthood, and (2) to examine the benefits as experienced by these CI users. METHODS: Twenty-one adults aged 23-65 years participated in the study. All had a congenital or prelingual deafness (onset before age 3). They received a CI between the age of 16 and 61 years (mean age: 31). Speech recognition scores before and after implantation were computed and a questionnaire on subjective benefits (French adaptation of the Adult Cochlear Implant Questionnaire, designed by Zwolan and collaborators (1996, Self-report of CI use and satisfaction by prelingually deafened adults...
February 20, 2017: Cochlear Implants International
https://www.readbyqxmd.com/read/28217870/adult-ocular-medulloepithelioma-diagnosed-by-transscleral-fine-needle-aspiration-a-case-report
#14
Amir Mahdjoubi, Nathalie Cassoux, Christine Levy-Gabriel, Laurence Desjardins, Jan Klos, Martial Caly, Tatjana Vlajnic, Sophie Gardrat, Jerzy Klijanienko
Ocular medulloepithelioma (ME) is a rare congenital tumor which occurs usually during childhood but is also reported in adults. They have seen an intraocular tumor in an 89 years-old female with a history of small cell lung carcinoma. Transscleral fine needle aspiration was performed. Aspirates were rich and composed of two distinctive populations of cells. The first consisted of epithelioid large cohesive cells with rare rosettes. Nuclei were oval and chromatin was delicate with small nucleoli. The second population consisted of smaller and dispersed cells with regular nuclei and dusty chromatin...
February 20, 2017: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/28217850/correlates-of-posttraumatic-stress-disorder-in-adults-with-congenital-heart-disease
#15
Bahareh Eslami
OBJECTIVE: The aims of this study were to compare the level of posttraumatic stress disorder between adults with and without congenital heart disease, and to examine the correlates of posttraumatic stress disorder (e.g., sociodemographics). DESIGN: Cross-sectional. SETTING: Two university-affiliated heart hospitals in Tehran, Iran. PATIENTS: A sample of 347 adults with congenital heart disease aged 18-64 years (52% women), and 353 adults without congenital heart disease matched by sex and age (±2 years) was recruited...
February 20, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28216495/-clinical-value-of-adma-in-patients-with-pulmonary-arterial-hypertension-combination-with-congenital-heart-disease
#16
Pengfei Chen, Yiyuan Huang, Zhenfei Fang, Xinqun Hu, Xiangqian Shen, Shenghua Zhou
To study the concentration of the asymmetrical dimethyl-L-arginine (ADMA) in patients with pulmonary arterial hypertension (PAH) commbination with congenital heart disease (CHD) and its clinical value as a biomaker for diagnosis and prognosis.
 Methods: A total of 100 patients with CHD and 25 healthy adult subjects were recruited. CHD patients were divided into three groups: normal pulmonary arterial pressure group (group A, n=25), mild-to-moderate PAH group (group B, n=25), severe PAH group (group C, n=50)...
January 28, 2017: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/28214639/congenital-glioblastoma-with-distinct-clinical-and-molecular-characteristics-case-reports-and-a-literature-review
#17
Masahiro Kameda, Yoshihiro Otani, Tomotsugu Ichikawa, Akira Shimada, Koichi Ichimura, Isao Date
BACKGROUND: The molecular diagnosis of brain tumors is important in classifying tumors and determining appropriate treatment. Congenital glioblastoma multiforme (GBM) is a rare tumor that occurs in infants, and the prognosis is poor. Approximately 60 patients diagnosed as congenital GBM have been reported. However, few reports have conducted molecular analyses of congenital GBM. CASE DESCRIPTION: We describe two congenital GBM patients treated in our hospital, and report results of immunohistochemistry, fluorescent in situ hybridization (FISH), direct sequencing, and methylation analyses...
February 15, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28214318/clinical-course-treatment-modalities-and-quality-of-life-in-patients-with-congenital-melanocytic-nevi-data-from-the-german-cmn-registry
#18
Maria Elisabeth Wramp, Anna Langenbruch, Matthias Augustin, Detlef Zillikens, Sven Krengel
BACKGROUND: Congenital melanocytic nevi (CMN) are associated with mental stress as well as medical risks for those affected. The German CMN registry was initiated in 2005. Herein, we present results from an interim analysis focusing on disease course, treatment modalities, and quality of life. PATIENTS AND METHODS: One hundred patients enrolled in the registry between 2005 and 2012 were included in this prospective cohort study, and asked to participate in a follow-up survey...
February 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/28212480/-reintervention-with-percutaneous-balloon-angioplasty-in-patients-with-congenital-heart-disease-with-left-sided-obstructions
#19
Horacio Márquez-González, Diana López-Gallegos, Nataly Alejandra Pérez-Velázquez, Lucelli Yáñez-Gutiérrez
BACKGROUND: Left-sided cardiac obstructions represent 15% of congenital heart disease (CHD). The treatment in adults is surgical; however, balloon dilation by interventional catheterization can alleviate the symptoms in pediatric patients to allow them to reach the target height. The aim was to determine the survival and the factors associated with reintervention in patients with CHD with left-sided obstruction treated with balloon angioplasty. METHODS: A cohort study was conducted in patients aged 4 to 17 years with left-sided heart obstruction (valvular stenosis [VS], supravalvular aortic stenosis [SAS], coarctation of the aorta [CA]) successfully treated with balloon angioplasty...
2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28212134/the-adult-patient-with-congenital-heart-disease
#20
Paola Testa, Arpes Mainardi, Giancarlo Piovaccari
No abstract text is available yet for this article.
February 16, 2017: Journal of Cardiovascular Medicine
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