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I Khan, O E Okosieme, J H Lazarus
Thyroid dysfunction is common in pregnancy and has adverse fetal and maternal health consequences. A number of challenges in the management of gestational thyroid dysfunction remain unresolved including uncertainties in optimal thresholds for correction of hypothyroidism and strategies for pharmacological management of hyperthyroidism. Areas covered: We addressed key challenges and areas of uncertainty in the management of thyroid dysfunction in pregnancy. Expert commentary: Gestational thyroid hormone reference intervals vary according to population ethnicity, iodine nutrition, and assay method and each population should derive trimester specific reference intervals for use in pregnancy...
October 26, 2016: Expert Review of Clinical Pharmacology
Vincent Strehlow, Marielle E M Swinkels, Rhys H Thomas, Nora Rapps, Steffen Syrbe, Thomas Dorn, Johannes R Lemke
Prompted by the observations of juvenile myoclonic epilepsy (JME) in 22q11.2 deletion syndrome (22q11DS) and recurrent copy number variants in genetic generalized epilepsy (GGE), we searched for further evidence supporting a possible correlation of 22q11DS with GGE and with myoclonic seizures. Through routine diagnostics, we identified 3 novel individuals with the seemingly uncommon combination of 22q11DS and JME. We subsequently screened the literature for reports focussing on the epilepsy phenotype in 22q11DS...
September 2016: Molecular Syndromology
Xavier Llovet, Philippe T Pinard, Erkki Heikinheimo, Seppo Louhenkilpi, Silvia Richter
We report electron probe microanalysis measurements on nickel silicides, Ni5Si2, Ni2Si, Ni3Si2, and NiSi, which were done in order to investigate anomalies that affect the analysis of such materials by using the Ni L3-M4,5 line (Lα). Possible sources of systematic discrepancies between experimental data and theoretical predictions of Ni L3-M4,5 k-ratios are examined, and special attention is paid to dependence of the Ni L3-M4,5 k-ratios on mass-attenuation coefficients and partial fluorescence yields. Self-absorption X-ray spectra and empirical mass-attenuation coefficients were obtained for the considered materials from X-ray emission spectra and relative X-ray intensity measurements, respectively...
October 26, 2016: Microscopy and Microanalysis
Masoumeh Ghafarzadeh, Mehrdad Namdari, Ali Eatemadi
Congenital heart disease (CHD) is the most prevalent congenital anomaly in newborn babies. Cardiac malformations have been induced in different animal model experiments, by perturbing some molecules that take part in the developmental pathways associated with myocyte differentiation, specification, or cardiac morphogenesis. The exact epigenetic, environmental, or genetic, basis for these molecules perturbations is yet to be understood. But, scientist have bridged this gap by introducing autologous stem cell into the defective hearts to treat CHD...
October 22, 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
Michael J Mitchell, Catherine Metzler-Guillemain, Toure Aminata, Charles Coutton, Christophe Arnoult, Pierre F Ray
Azoospermia, defined by the absence of sperm in the ejaculate, is estimated to affect up to 1% of men in the general population. Assisted reproductive technologies have revolutionized the treatment of infertility, and some azoospermic men, those with a post-meiotic defect, can conceive following the use of viable spermatoza recovered from testicular or epididymal biopsies. Although male infertility is a multifactorial disease, it is believed that genetic factors are predominant in the etiology of azoospermia and severe oligozoospermia...
October 25, 2016: Clinical Genetics
Pierre F Ray, Aminata Toure, Metzler-Guillemain, Michael J Mitchell, Christophe Arnoult, Charles Coutton
Infertility, defined by the inability of conceiving a child after one year is estimated to concern approximately 50 million couples worldwide. As the male gamete is readily accessible and can be studied by a simple spermogram it is easier to subcategorize male than female infertility. Subjects with a specific sperm phenotype are more likely to have a common origin thus facilitating the search for causal factors. Male infertility is believed to be often multifactorial and caused by both genetic and extrinsinc factors, but severe cases of male infertility are likely to have a predominant genetic etiology...
October 25, 2016: Clinical Genetics
Jing Zhang, Jin-Shui Zhu, Zhou Zhou, Wei-Xiong Chen, Ni-Wei Chen
Following the publication of this article, an interested reader drew to the attention of the Editorial Board that the above article appeared to contain a series of Figures that featured duplicated data. Following an internal investigation, the Editorial Board reached the conclusion that the allegations of the reader were well-founded. Specifically, the GAPDH bands shown in Figs. 2 and 3 are identical with those in Figs. 4C and 5D, with the exception that the images have been reversed. Furthermore, certain data in Fig...
October 19, 2016: Oncology Reports
Wei Yang, Xiaoyuan Wang, Wei Zheng, Kedong Li, Haofeng Liu, Yueming Sun
Following the publication of this article, an interested reader drew to our attention anomalies associated with the data shown in Fig. 2, which presented the mRNA and protein expression levels of tropomyosin 1 (TPM1) in HuCCT1 cells. Essentially, the control bands for α-tubulin had been duplicated across from Fig. 2A to Fig. 2B, and from Fig. 2D to Fig. 2E [the experiments showing treatment of the cells with (A) manumycin A, (B) U0126, (D) 5-aza-2-deoxycytidine (DAC) and (E) trichostatin A (TSA)], respectively...
October 24, 2016: International Journal of Oncology
Shaobin Lin, Yi Zhou, Qun Fang, Jianzhu Wu, Zhiqiang Zhang, Yuanjun Ji, Yanmin Luo
The current study presents the cases of two unrelated patients with similar clinical features, including craniofacial anomalies, developmental delay/intellectual disability and cardiac malformations, that are consistent with chromosome 10q26 deletion syndrome. High‑resolution single‑nucleotide polymorphism analysis revealed that 10q26 terminal deletions were present in these two patients. The locations and sizes of the 10q26 deletions in these two patients were compared with the locations and sizes of 10q26 deletions in 30 patients recorded in the DECIPHER database and 18 patients characterized in previous studies through chromosomal microarray analysis...
October 19, 2016: Molecular Medicine Reports
Rajkishen Narayanan, Hye Na Kim, Narayanan K Narayanan, Dominick Nargi, Bhagavathi Narayanan
Following the publication of this article, which was concerned with the expression of phosphorylated epidermal growth factor receptor (pEGFR) and cyclin D1 activation independently of the expression levels of cyclo-oxygenase-2, an interested reader drew to our attention apparent anomalies associated with the western blot data shown in Fig. 2C. Following an internal investigation at the New York University School of Medicine, we were requested to produce the original film, or the scan of the image of the film, for verification...
October 18, 2016: International Journal of Oncology
Chulananda Goonasekera, Kamal Ali, Ann Hickey, Lekshmi Sasidharan, Malcolm Mathew, Mark Davenport, Anne Greenough
BACKGROUND: Mortality following surgical repair of congenital diaphragmatic hernia (CDH) remains high. The volume and type of perioperative intravenous fluid administered, baro-trauma, oxygen toxicity, and the duration of anesthesia are thought to affect outcome in surgical populations. AIMS: The aim of this retrospective observational study was to determine whether the perioperative volume or type of fluids and/or the duration of anesthesia were associated with postoperative mortality and if mortality was predicted by the oxygenation index (OI) prior to or following CDH surgical repair...
October 25, 2016: Paediatric Anaesthesia
Dong Xiao, Ping Zhao, Yue Wang, Xiuji Zhou
This study investigates the response of large-scale atmospheric circulation over the Asian-Pacific sector and precipitation over eastern China to transient orbital changes during the Holocene summer using an intermediate-complexity climate model. Corresponding to variations in the incoming solar radiation, the eddy sea level pressure (SLP) exhibited an out-of-phase relationship between the North Pacific and the Eurasian landmass that was similar to the present-day Asia-Pacific Oscillation (APO) pattern and was defined as the paleo-APO...
October 25, 2016: Scientific Reports
Yancheng Zhang, Xu Zhang, Cristiano M Chiessi, Stefan Mulitza, Xiao Zhang, Gerrit Lohmann, Matthias Prange, Hermann Behling, Matthias Zabel, Aline Govin, André O Sawakuchi, Francisco W Cruz, Gerold Wefer
Abundant hydroclimatic evidence from western Amazonia and the adjacent Andes documents wet conditions during Heinrich Stadial 1 (HS1, 18-15 ka), a cold period in the high latitudes of the North Atlantic. This precipitation anomaly was attributed to a strengthening of the South American summer monsoon due to a change in the Atlantic interhemispheric sea surface temperature (SST) gradient. However, the physical viability of this mechanism has never been rigorously tested. We address this issue by combining a thorough compilation of tropical South American paleorecords and a set of atmosphere model sensitivity experiments...
October 25, 2016: Scientific Reports
Mangen Yang, Xing Chen, Chad Shouquan Cheng
Precipitation extremes play a key role in flooding risks over the Huaihe River Basin, which is important to understand their hydrological impacts. Based on observed daily precipitation and streamflow data from 1958 to 2009, eight precipitation indices and three streamflow indices were calculated for the study of hydrological impacts of precipitation extremes. The results indicate that the wet condition intensified in the summer wet season and the drought condition was getting worse in the autumn dry season in the later years of the past 50 years...
2016: SpringerPlus
Rubén Kevin Arnold Tapia-Orihuela, Jorge Huaringa-Marcelo, David Loja-Oropeza
Introduction: Situs inversus totalis is an uncommon anomaly which exist a complete transposition of organs and it's occasionally associated with congenital heart diseases, such as tetralogy of fallot. Pheochromocytoma is a rare neuroendocrine tumor with an annual incidence of 2-8 cases per million people and for years has been studied its relationship with the hypoxic pathway. Case Report: A 29 year old male with a history of tetralogy of fallot corrected at 10 years and situs inversus totalis. He was admitted to hospital with a progressive story of four months of constipation, palpitations, headache, dyspnea and sweating...
2016: Journal of Cardiovascular and Thoracic Research
Linda M Reis, Rebecca C Tyler, Eric Weh, Kathryn E Hendee, Ariana Kariminejad, Omar Abdul-Rahman, Tawfeg Ben-Omran, Melanie A Manning, Catherine A McCarty, Terrie E Kitchner, Deborah Costakos, Elena V Semina
PURPOSE: The CYP1B1 gene encodes an enzyme that is a member of the cytochrome P450 superfamily. Mutations in CYP1B1 have been mainly reported in recessive pediatric ocular phenotypes, such as primary congenital glaucoma (PCG) and congenital glaucoma with anterior segment dysgenesis (CG with ASD), with some likely pathogenic variants also identified in families affected with adult-onset primary open angle glaucoma (POAG). METHODS: We examined CYP1B1 in 158 pediatric patients affected with PCG (eight), CG with ASD (22), CG with other developmental ocular disorders (11), juvenile glaucoma with or without additional ocular anomalies (26), and ASD or other developmental ocular conditions without glaucoma (91); in addition, a large cohort of adult patients with POAG (193) and POAG-negative controls (288) was examined...
2016: Molecular Vision
Alexandre Ferreira Silva, José Antônio Dos Santos
No abstract text is available yet for this article.
July 2016: Radiologia Brasileira
Ângela Faistauer, Felipe Soares Torres, Carlo Sasso Faccin
We report a case of an uncommon thoracic aorta anomaly-right aortic arch with aberrant left innominate artery arising from Kommerell's diverticulum-that went undiagnosed until adulthood.
July 2016: Radiologia Brasileira
Shuang Jia, Su-Yang Xu, M Zahid Hasan
No abstract text is available yet for this article.
October 25, 2016: Nature Materials
Jung Min Ko, Jae So Cho, Yongjin Yoo, Jieun Seo, Murim Choi, Jong-Hee Chae, Hye-Ran Lee, Tae-Joon Cho
Wiedemann-Steiner syndrome is a rare genetic disorder characterized by short stature, hairy elbows, facial dysmorphism, and developmental delay. It can also be accompanied by musculoskeletal anomalies such as muscular hypotonia and small hands and feet. Mutations in the KMT2A gene have only recently been identified as the cause of Wiedemann-Steiner syndrome; therefore, only 16 patients from 15 families have been described, and new phenotypic features continue to be added. In this report, we describe 2 newly identified patients with Wiedemann-Steiner syndrome who presented with variable severity...
October 24, 2016: Journal of Child Neurology
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