bluuebunny/crossref_metadata_2025_split huggingface dataset:
Detection of Hb H disease caused by a novel mutation and ‐‐SEA deletion using capillary electrophoresis
Authors: Li Youqiong , Liang Liang , Tian Mao , Qin Ting , Wu Xin 
Published: June 2019

AbstractBackgroundHb H disease is a serious type of α‐thalassemia which cause moderate anemia while misdiagnosis by routine genetic analysis in a rare or novel Hb H disease.MethodsThe study was done on three patients and one fetus in a suspected Hb H disease family. Hb analysis was carried out using capillary electrophoresis (CE), and hematological analysis was conducted with an automated cell counter. Common α‐ and β‐thalassemia mutations were detected by routine genetic analysis (gap‐PCR and RDB‐PCR). Novel mutation diagnostic methods were based on DNA sequencing.ResultsCapillary electrophoresis revealed clinical feature of classic Hb H disease in the proband, and hematology analysis showed moderate anemia (Hb 87 g/L). But routine genetic analysis was found that it was only a heterozygote for the ‐‐SEA deletion. DNA sequencing of α‐globin genes (α1 and α2) identified the breakpoints between nts 34162 and 34171 at α2 gene, named CD 90‐93 (‐AGCTTCGG) mutation. The genotype of proband and fetus was the same ‐‐SEA/‐αCD90‐93. His father was homozygous for the novel mutation (‐αCD90‐93/‐αCD90‐93), and his mother was heterozygote for the ‐‐SEA deletion.ConclusionsOur study for the first time described the novel mutation CD 90‐93 (‐AGCTTCGG). CE is a way to avoid misdiagnosis of rare or novel Hb H disease.
Photoautotrophic cultivation of Chlorococcum humicola in stirred tank and airlift photobioreactors under different light settings and light supplying strategies for biomass and carotenoid production
Authors: Powtongsook Sorawit , Nootong Kasidit 
Published: June 2019

AbstractBACKGROUNDLight quality influences biomass and carotenoid production in microalgae, yet no information is available for Chlorococcum humicola. This work performed a series of batch cultivations of Chlorococcum humicola to assess biomass and carotenoid production in stirred tank and airlift photobioreactors under different light qualities and supplying strategies.RESULTSWhite light was preferred for growth while blue light was suitable for carotenoid production during stationary phase. Batch cultivation in stirred tank photobioreactors subjected to two‐staged lighting yielded higher carotenoid productivity than single‐staged lighting, with the highest productivity obtained when providing white light at 5000 lx during growth phase and combination of white (100 000 lx) and blue (5000 lx) lights during stationary phase. Subsequent cultivation in internal‐loop airlift photobioreactors under optimal light setting based on two‐staged study produced higher biomass (855 ± 26 mg L−1) and carotenoid (8.11 ± 0.20 mg L−1 or 9.23 ± 0.23 mg g−1) than the cultivation in stirred tank systems with the same volume and operating condition. High‐performance liquid chromatography (HPLC) analysis of carotenoid from airlift photobioreactors revealed that lutein, violaxanthin and neoxanthin were major carotenoids.CONCLUSIONSThis work reported for the first time the effect of light quality and supplying strategy on growth and carotenoid production in Chlorococcum humicola. Two‐staged lighting with white light following by combination of white light at high intensity and blue light offered new strategy to improve carotenoid productivity. Cultivation in airlift photobioreactor yielded higher biomass than the cultivation in stirred tank photobioreactors and offered an alternative for future photobioreactor selection. © 2019 Society of Chemical Industry
Female family members lack understanding of indeterminate negative BRCA1/2 test results shared by probands
Authors: Himes Deborah O. , Gibbons Deborah K. , Birmingham Wendy C. , Beckstrand Renea L. , Gammon Amanda , Kinney Anita Y. , Clayton Margaret F. 
Published: June 2019

AbstractGenetic test results have important implications for close family members. Indeterminate negative results are the most common outcome of BRCA1/2 mutation testing. Little is known about family members' understanding of indeterminate negative BRCA1/2 test results. The purpose of this mixed‐methods study was to investigate how daughters and sisters received and understood genetic test results as shared by their mothers or sisters. Participants included 81 women aged 40–74 with mothers or sisters previously diagnosed with breast cancer and who received indeterminate negative BRCA1/2 test results. Participants had never been diagnosed with breast cancer nor received their own genetic testing or counseling. This Institutional Review Board‐approved study utilized semi‐structured interviews and surveys. Descriptive coding with theme development was used during qualitative analysis. Participants reported low amounts of information shared with them. Most women described test results as negative and incorrectly interpreted the test to mean there was no genetic component to the pattern of cancer in their families. Only seven of 81 women accurately described test results consistent with the meaning of an indeterminate negative. Our findings demonstrate that indeterminate negative genetic test results are not well understood by family members. Lack of understanding may lead to an inability to effectively communicate results to primary care providers and missed opportunities for prevention, screening, and further genetic testing. Future research should evaluate acceptability and feasibility of providing family members letters they can share with their own primary care providers.
Impact of genotypic susceptibility score on cART outcomes during primary HIV infection
Authors: Giacomelli Andrea , Fabbiani Massimiliano , De Benedetto Ilaria , Nozza Silvia , Focà Emanuele , Celesia Benedetto M. , Marchetti Giulia , Mussini Cristina , Antinori Andrea , d’Ettorre Gabriella , Madeddu Giordano , Bandera Alessandra , Muscatello Antonio , Rusconi Stefano 
Published: June 2019

AbstractTo assess the impact of genotypic susceptibility score (GSS) on combined antiretroviral therapy (cART) outcomes during primary HIV infection (PHI) we retrospectively enrolled patients with PHI diagnosed between 2008 and 2015 at 9/24 Italian Network ACuTe HIV InfectiON centers. One hundred‐seventy‐six patients were enrolled. Of these, 55 (32.9%) patients started with more than three drugs and 11 (7.2%) started with a GSS < 3. Regimen's GSS (per 1 point increase) (adjusted odds ratio [aOR], 4.82; 95% confidence interval [CI], 1.62‐14.28; P = .005) and baseline HIV‐RNA (per 1 log10 increase) (aOR, 2.02; 95% CI, 1.09‐3.73; P = .025) resulted associated with early cART initiation. In conclusion, regimen's GSS resulted to be associated to the time to cART initiation during PHI.
Microfluidic time‐lapse analysis and reevaluation of the Bacillus subtilis cell cycle
Authors: Lee Seoungjun , Wu Ling Juan , Errington Jeff 
Published: June 2019

AbstractRecent studies taking advantage of automated single‐cell time‐lapse analysis have reignited interest in the bacterial cell cycle. Several studies have highlighted alternative models, such as Sizer and Adder, which differ essentially in relation to whether cells can measure their present size or their amount of growth since birth. Most of the recent work has been done with Escherichia coli. We set out to study the well‐characterized Gram‐positive bacterium, Bacillus subtilis, at the single‐cell level, using an accurate fluorescent marker for division as well as a marker for completion of chromosome replication. Our results are consistent with the Adder model in both fast and slow growth conditions tested, and with Sizer but only at the slower growth rate. We also find that cell size variation arises not only from the expected variation in size at division but also that division site offset from mid‐cell contributes to a significant degree. Finally, although traditional cell cycle models imply a strong connection between the termination of a round of replication and subsequent division, we find that at the single‐cell level these events are largely disconnected.
Identification of a novel large deletion and other copy number variations in theCFTRgene in patients with Cystic Fibrosis from a multiethnic population
Authors: Martins Raisa da Silva , Campos Junior Mario , dos Santos Moreira Aline , Marques Zembrzuski Verônica , da Fonseca Ana Carolina Proença , Abreu Gabriella de Medeiros , Cabello Pedro Hernan , de Cabello Giselda Maria Kalil 
Published: June 2019

AbstractBackgroundCystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). There are over 2000 different pathogenic and non‐pathogenic variants described in association with a broad clinical heterogeneity. The most common types of mutations in this gene are single nucleotide substitutions or small deletions and insertions. However, large rearrangements, such as large duplications or deletions, are also a possible cause of CF; these variations are rarely tested in routine screenings, and much of them remain unidentified in some populations, especially those with high ethnic heterogeneity.MethodsThe present study utilized the Multiplex Ligation‐dependent Probe Amplification (MLPA) technique for the detection of duplications and deletions in 165 CF patients from the Rio de Janeiro State (Brazil), which after extensive mutational screening, still exhibited one or two unidentified CF alleles.ResultsFive patients with alterations in MLPA signals were detected. After validation, we identified three copy number variations, one large duplication (CFTRdup2‐3) and two large deletions (CFTRdel25‐26 and CFTRdel25‐27‐CTTNBP2). Two detected deletions were not validated. They were false positives caused by a small deletion of 18 base pairs (232del18) and a point mutation (S168L) in the probe binding site.ConclusionOur results highlight the importance of screening for large rearrangements in CF cases with no or only oneCFTRmutation defined.
Neonatal Adipocytokines and Longitudinal Patterns of Childhood Growth
Authors: Buck Catherine O. , Eliot Melissa N , Kelsey Karl T. , Chen Aimin , Kalkwarf Heidi , Lanphear Bruce P. , Braun Joseph M. 
Published: June 2019

ObjectiveAdipocytokines are markers of fetal metabolism, but their association with childhood growth is unclear. This study examined associations of neonatal adipocytokines with longitudinal childhood adiposity measures in a prospective cohort of pregnant women and their children.MethodsLeptin and adiponectin concentrations at delivery and children’s BMI z scores between age 4 weeks and 8 years were measured. Differences in BMI z scores and rates of BMI z score change by leptin (n = 257) and adiponectin (n = 271) terciles were estimated.ResultsChildren in the middle (mean difference: 0.2; 95% CI: −0.1 to 0.4) and highest (0.4; 95% CI: 0.1 to 0.6) leptin terciles had greater BMI z scores than children in the lowest tercile. Associations were null after adjustment for birth weight z score. Children in the lowest adiponectin tercile had greater gains in BMI z score (change per year: 0.10; 95% CI: 0.08 to 0.13) than children in the middle (0.07; 95% CI: 0.04 to 0.09) and highest terciles (0.04; 95% CI: −0.01 to 0.05) (adiponectin × age interaction P < 0.001).ConclusionsLower adiponectin levels were associated with increased rates of BMI gains in the first 8 years of life. Though leptin was positively associated with BMI, this association may be confounded by birth weight.
Effect of Genetic Propensity for Obesity on Income and Wealth Through Educational Attainment
Authors: Patel Pankaj C. , Rietveld Cornelius A. 
Published: June 2019

ObjectiveThis study contributes to the literature on the income and wealth consequences of obesity by exploiting recent discoveries about the genetic basis of BMI.MethodsThe relation between a genetic risk score (GRS) for BMI, which reflects the genetic predisposition to have a higher body weight, and income and wealth was analyzed in a longitudinal data set comprising 5,962 individuals (22,490 individual‐year observations) from the US Health and Retirement Study.ResultsEmpirical analyses showed that the GRS for BMI lowers individual income and household wealth through the channel of lower educational attainment. Sex‐stratified analyses showed that this effect is particularly significant among females.ConclusionsThis study provides support for the negative effects of the GRS for BMI on individual income and household wealth through lower education for females. For males, the effects are estimated to be smaller and insignificant. The larger effects for females compared with males may be due to greater labor market taste‐based discrimination faced by females.
Identification of gastrointestinal perforation based on ICD‐10 code in a Japanese administrative medical information database and associated drug exposure risk factors
Authors: Tanigawa Masatoshi , Kataoka Yoko , Kishino Takayoshi , Kohama Mei , Uyama Yoshiaki , Suzuki Yasuyuki , Yokoi Hideto 
Published: June 2019

AbstractPurposeThe purpose of this study is to evaluate the accuracy of gastrointestinal (GI) perforation ICD‐10 coding in the Diagnosis Procedure Combination (DPC) database and to examine drug exposure risk factors for GI perforation.MethodsA total of 100 patients with GI perforation ICD‐10 codes were selected randomly from Kagawa University Hospital's DPC database between April 2011 and December 2016. Two experienced specialist physicians independently reviewed the medical records and classified cases as “definite A,” “definite B,” “probable,” or “no GI perforation.” The positive predictive values (PPVs) of “definite A/B” cases were calculated after stratification by sex, age, ICD‐10 code, and diagnostic information in the DPC data. The number of prescribed drugs with side effects of GI perforation according to historical data was compared between “definite A/B” and “no GI perforation” cases.ResultsThe overall PPV was 47.0% (95% confidence interval [CI], 36.9‐57.2). However, the PPVs for the three categories of diagnostic information in the DPC data (“main diagnosis,” “diagnosis causing admission,” and “most resource‐intensive diagnosis”) were each more than 70% after excluding inappropriate patients. Additionally, the PPV focused on these three categories was 76.3% (95% CI, 59.8‐88.6). Prescribed drugs with side effects of GI perforation were more frequently detected in “definite A/B” cases (P = .028).ConclusionsAlthough the overall PPV for GI perforation based on ICD‐10 code was low, our results suggest that the PPV could be improved by appropriate selection of DPC diagnosis category and that use of multiple medications enhances the risk of GI perforation.
A potent fluorescent calcitonin gene‐related peptide analogue enables visualization of receptor internalization
Authors: Yule Lauren R. , Garelja Michael L. , Hendrikse Erica R. , Gingell Joseph J. , Poyner David R. , Harris Paul W. H. , Brimble Margaret A. , Hay Debbie L. 
Published: June 2019

AbstractThe calcitonin gene‐related peptide (CGRP) system provides a significant opportunity for the treatment of migraine. However, further understanding of the function of CGRP receptors is required. Fluorescent ligands are valuable probes that enable deeper understanding of peptide‐receptor interactions and receptor function. We herein report the synthesis and biological activity of a potent fluorescent CGRP that allowed direct observation of CGRP receptor internalization in a transfected cell system. The potent activity of this fluorescent CGRP thus enables access to a valuable pharmacological tool for further understanding the CGRP system.
Lung function in school‐aged congenital diaphragmatic hernia patients; a longitudinal evaluation
Authors: Toussaint‐Duyster Leontien C. C. , van der Cammen‐van Zijp Monique H. M. , Spoel Marjolein , Tiddens Harm A. W. M. , Tibboel Dick , Wijnen Rene M. H. , van Rosmalen Joost , IJsselstijn Hanneke 
Published: June 2019

AbstractObjectiveChildren with congenital diaphragmatic hernia (CDH) are at risk for pulmonary morbidity. Data on longitudinal evaluation of lung function in CDH are scarce. We hypothesized that CDH patients would have impaired lung function that worsens over time. We evaluated lung function and its determinants at ages 8 and 12 years.MethodsDynamic and static lung volumes, and diffusion capacity were measured. Extracorporeal membrane oxygenation (ECMO) treatment, the standardized European neonatal treatment protocol, patch repair, duration of ventilation, type of initial mechanical ventilation, and nitric oxide treatment were entered as covariates in linear mixed models with standard deviation score (SDS) lung function parameters (FEV1, FEF
25‐75, and K
CO) as dependent variables.ResultsSeventy‐six children (27 ECMO‐treated) born between 1999 and 2009 performed 113 reliable lung function tests. Severity of airflow obstruction deteriorated significantly from age 8 to 12 years: estimated mean difference (95% confidence interval [CI]) SDS FEV1 was −0.57 (−0.79 to −0.36) and SDS FEF25‐75 was −0.63 (−0.89 to −0.37), both P < .001. Static lung volumes were within normal range and unchanged over time: estimated mean difference (95% CI) SDS TLC −0.27 (−0.58 to 0.04); P = .085. SDS KCO was below normal at 8 and 12 years and remained stable: −0.06 (−0.22 to 0.35); P = .648. These observations were irrespective of ECMO treatment. FEV1 and FEF25‐75 were negatively associated with duration of ventilation (P < .001). Baseline data were not related with TLC or KCO.ConclusionsCDH patients should be followed into adulthood as they are at risk for worsening airflow obstruction and decreased diffusion capacity at school age, irrespective of ECMO treatment.
Neohesperidin suppresses IgE‐mediated anaphylactic reactions and mast cell activation via Lyn‐PLC‐Ca2+ pathway
Authors: Zhao Tingting , Hu Shiling , Ma Pengyu , Che Delu , Liu Rui , Zhang Yongjing , Wang Jue , Li Chaomei , Ding Yuanyuan , Fu Jia , An Hongli , Gao Zijun , Zhang Tao 
Published: June 2019

Mast cells play an essential role in IgE‐FcεR1‐mediated allergic diseases. Citrus aurantium is a prolific source of flavonoids with various biological activities, including anti‐inflammatory, antioxidant, and anti‐tumor efficacies. Neohesperidin is a novel flavonoid isolated from the leaves of C. aurantium. In this study, the anti‐allergic and anti‐inflammatory potentials of neohesperidin were investigated along with its molecular mechanism. The anti‐anaphylactic activity of neohesperidin was evaluated through hind paw extravasation study in mice. Calcium imaging was used to assess intracellular Ca2+ mobilization. The levels of cytokines and chemokines were measured using enzyme immunoassay kits. Western blotting was used to explore the related molecular signaling pathways. Neohesperidin suppressed IgE‐induced mast cell activations, including degranulation and secretion of cytokines and eicosanoids through inhibiting phosphorylation of Lyn kinase. Neohesperidin inhibited the release of histamine and other proinflammatory cytokines through a mast cell‐dependent passive cutaneous anaphylaxis animal model. Histological studies demonstrated that neohesperidin substantially inhibited IgE‐induced cellular infiltration and attenuated mast cell activation in skin tissue. In conclusion, our study revealed that neohesperidin could inhibit allergic responses in vivo and in vitro, and the molecule may be regarded as a novel agent for preventing mast cell‐immediate and delayed allergic diseases.
Post‐traumatic stress and psychological health following infidelity in unmarried young adults
Authors: Roos Lydia G. , O'Connor Victoria , Canevello Amy , Bennett Jeanette M. 
Published: June 2019

AbstractInfidelity is often conceptualized as a traumatic event; however, little research has explored this topic empirically, particularly in unmarried adults. We determined the prevalence of infidelity‐related post‐traumatic stress disorder (PTSD) symptoms among unmarried adults who experienced a partner's infidelity and whether probable infidelity‐related PTSD was associated with additional psychological health outcomes (i.e., depressive symptoms, perceived stress, and anxiety symptoms). We also investigated whether negative post‐traumatic cognitions mediated the associations between infidelity‐related PTSD symptoms and psychological health. This study included 73 adults (M age = 19.42, SE = 0.19 years) who experienced infidelity within a committed nonmarital relationship within the last 5 years. Controlling for gender, race, and exposure to Diagnostic and Statistical Manual of Psychiatric Disorders Criterion A traumas, 45.2% of our sample reported symptoms suggesting probable infidelity‐related PTSD. Whether used as continuous or categorical predictor, infidelity‐related PTSD symptoms were significantly associated with depressive symptoms, although results for perceived stress and anxiety symptoms were mixed. Post‐traumatic cognitions acted as a partial mediator for depressive symptoms and full mediator for perceived stress and anxiety symptoms. This empirical evidence suggests that infidelity may produce PTSD symptoms at a relatively high rate, even in unmarried young adults, and may put individuals at risk for poorer psychological health, partially through post‐traumatic cognitions.
Experimental investigation of energy consumption and model identification of reverse osmosis desalination system fed by hybrid renewable energy source under different operating conditions
Authors: Hossam‐Eldin Ahmed , Abed Kamal , Youssef Karim , Kotb Hossam 
Published: June 2019

AbstractIn this article, the specific energy consumption (SEC) and water production cost (Cw) of a reverse osmosis (RO) desalination plant are investigated experimentally under different working conditions. The plant is fed by a hybrid renewable energy source. The frequency of the high‐pressure pump motor is changed from 35 to 50 Hz using a variable frequency drive. In addition, the feed water temperature and the reject control valve are controlled. This article investigates the effects of SEC, Cw, permeate salt concentration, and plant productivity. The results show that both SEC and Cw are reduced by increasing the frequency up to 45 Hz before rising thereafter. Also, SEC and Cw decrease with increasing feed temperature and reduced reject valve opening. As a result, the optimum values of SEC and Cw are found at 45 Hz and 40 °C with 25% valve opening, representing 4.5 kWh/m3 and 0.55 $/m3, respectively. Then, a model is proposed for the RO plant using the Matlab identification toolbox. The model is validated by comparing the simulation results with the experimental data. Based on the best fit ratio, the model presents good results for verification, which can be used for a process control design. © 2019 Institute of Electrical Engineers of Japan. Published by John Wiley & Sons, Inc.