bluuebunny/crossref_metadata_2025_split huggingface dataset:
Ethical questions concerning newborn genetic screening
Authors: Esquerda Montserrat , Palau Francesc , Lorenzo David , Cambra Francisco Jose , Bofarull Margarita , Cusi Victoria , Interdisciplinar en Bioetica Grup 
Published: August 2020

AbstractNewborn screening is a public health strategy used to identify certain diseases in the first days of life and, therefore, facilitate early treatment before the onset of symptoms. The decision of which diseases should be included in a screening goes beyond the medical perspective, including reasons for public health and health economics. There are a number of characteristics to include a disease in the screening, such as that the disorder must be a significant health problem, the natural history of the disease must be well known, a feasible and accurate test must be available, there must be a treatment that is most effective when applied before the onset of clinical symptoms and a health system must be in place that is capable of performing the procedure and subsequent monitoring. Currently, newborn screening programs are currently based on the use of biochemical markers that detect metabolites, hormones or proteins, but recently, the availability of new technology has allowed the possibility of a genetic screening. In addition to technical problems, the possibility of neonatal screening also presents a number of ethical problems. We identified and discussed six areas of particular concern: type of illness, overdiagnosis or overtreatment, information management and informed consent, data confidentiality and protection, justice and legal regulation.
Evidence of unidirectional hybridization and second‐generation adult hybrid between the two largest animals on Earth, the fin and blue whales
Authors: Pampoulie Christophe , Gíslason Davíð , Ólafsdóttir Guðbjörg , Chosson Valérie , Halldórsson Sverrir Daníel , Mariani Stefano , Elvarsson Bjarki Þ. , Rasmussen Marianne H. , Iversen Maria R. , Daníelsdóttir Anna Kristín , Víkingsson Gísli A. 
Published: August 2020

AbstractBiodiversity in the oceans has dramatically declined since the beginning of the industrial era, with accelerated loss of marine biodiversity impairing the ocean's capacity to maintain vital ecosystem services. A few organisms epitomize the damaging and long‐lasting effects of anthropogenic exploitation: Some whale species, for instance, were brought to the brink of extinction, with their population sizes reduced to such low levels that may have caused a significant disruption to their reproductive dynamics and facilitated hybridization events. The incidence of hybridization is nevertheless believed to be rare, and very little information exists on its directionality. Here, using genetic markers, we show that all but one whale hybrid sample collected in Icelandic waters originated from the successful mating of male fin whale and female blue whale, thus suggesting unidirectional hybridization. We also demonstrate for the first time the existence of a second‐generation adult (male) hybrid resulting from a backcross between a female hybrid and a pure male fin whale. The incidence of hybridization events between fin and blue whales is likely underestimated and the observed unidirectional hybridization (for F1 and F2 hybrids) is likely to induce a reproductive loss in blue whale, which may represent an additional challenge to its recovery in the Atlantic Ocean compared to other rorquals.
Acne as an altered dermato‐endocrine response problem
Authors: Briganti Stefania , Flori Enrica , Mastrofrancesco Arianna , Ottaviani Monica 
Published: August 2020

AbstractAcne is the most common skin disease in adolescent Westernized populations. Several data support the involvement of the mammalian target of rapamycin complex 1 (mTORC1) signalling in the interplay between androgens, insulin, insulin‐like growth factor (IGF1) and high‐glycaemic index diet in acne. The peroxisome proliferator–activated receptor γ (PPARγ) is involved in both differentiation and anti‐inflammatory response. Low differentiated sebocytes showed decreased expression of PPARγ and increased level of insulin and IGF‐1 receptors, resulting in the production of acne‐like sebum and inflammatory mediators. In this viewpoint, we discuss how in acne the dysregulation of proliferation and differentiation processes in sebocytes and keratinocytes may be associated with altered response to androgens and other hormones, such as insulin or IGF‐1. Moreover, we propose PPARγ modulation as an innovative therapeutic approach to normalize sebocyte differentiation process, interfering with the different mechanisms involved in altered pilosebaceous unit.
COVID‐19 and Vitamin D: A lesson from the skin
Authors: Slominski Radomir M. , Stefan Joanna , Athar Mohammad , Holick Michael F. , Jetten Anton M. , Raman Chander , Slominski Andrzej T. 
Published: August 2020

AbstractThe negative outcomes of COVID‐19 diseases respiratory distress (ARDS) and the damage to other organs are secondary to a “cytokine storm” and to the attendant oxidative stress. Active hydroxyl forms of vitamin D are anti‐inflammatory, induce antioxidative responses, and stimulate innate immunity against infectious agents. These properties are shared by calcitriol and the CYP11A1‐generated non‐calcemic hydroxyderivatives. They inhibit the production of pro‐inflammatory cytokines, downregulate NF‐κΒ, show inverse agonism on RORγ and counteract oxidative stress through the activation of NRF‐2. Therefore, a direct delivery of hydroxyderivatives of vitamin D deserves consideration in the treatment of COVID‐19 or ARDS of different aetiology. We also recommend treatment of COVID‐19 patients with high‐dose vitamin D since populations most vulnerable to this disease are likely vitamin D deficient and patients are already under supervision in the clinics. We hypothesize that different routes of delivery (oral and parenteral) will have different impact on the final outcome.
Total ecosystem carbon stocks at the marine‐terrestrial interface: Blue carbon of the Pacific Northwest Coast, United States
Authors: Kauffman J. Boone , Giovanonni Leila , Kelly James , Dunstan Nicholas , Borde Amy , Diefenderfer Heida , Cornu Craig , Janousek Christopher , Apple Jude , Brophy Laura 
Published: August 2020

AbstractThe coastal ecosystems of temperate North America provide a variety of ecosystem services including high rates of carbon sequestration. Yet, little data exist for the carbon stocks of major tidal wetland types in the Pacific Northwest, United States. We quantified the total ecosystem carbon stocks (TECS) in seagrass, emergent marshes, and forested tidal wetlands, occurring along increasing elevation and decreasing salinity gradients. The TECS included the total aboveground carbon stocks and the entire soil profile (to as deep as 3 m). TECS significantly increased along the elevation and salinity gradients: 217 ± 60 Mg C/ha for seagrass (low elevation/high salinity), 417 ± 70 Mg C/ha for low marsh, 551 ± 47 Mg C/ha for high marsh, and 1,064 ± 38 Mg C/ha for tidal forest (high elevation/low salinity). Soil carbon stocks accounted for >98% of TECS in the seagrass and marsh communities and 78% in the tidal forest. Soils in the 0–100 cm portion of the profile accounted for only 48%–53% of the TECS in seagrasses and marshes and 34% of the TECS in tidal forests. Thus, the commonly applied limit defining TECS to a 100 cm depth would greatly underestimate both carbon stocks and potential greenhouse gas emissions from land‐use conversion. The large carbon stocks coupled with other ecosystem services suggest value in the conservation and restoration of temperate zone tidal wetlands through climate change mitigation strategies. However, the findings suggest that long‐term sea‐level rise effects such as tidal inundation and increased porewater salinity will likely decrease ecosystem carbon stocks in the absence of upslope wetland migration buffer zones.
NKX3.1 immunoreactivity is not identified in mesenchymal chondrosarcoma: a 25‐case cohort study
Authors: Chen Wei , Hornick Jason L , Fletcher Christopher D M 
Published: August 2020

AimsMesenchymal chondrosarcoma (MC) is characterised typically by a bimorphic microscopic appearance of islands of a well‐differentiated cartilaginous component, admixed with a primitive small cell component, which commonly expresses CD99 and NKX2.2. Given the variable relative abundance of each component and histological overlap with other small round cell tumours, the diagnosis can be challenging, especially in a limited sample. A distinctive gene fusion between HEY1 (located in 8q21) and NCOA2 (located in 8q13) was identified in MC, but the downstream molecular events are unknown. NKX3.1 (coding gene located in 8p21.1) was recently reported to be expressed in a small number of MC cases. The purpose of this study was to evaluate the potential diagnostic utility of NKX3.1 immunohistochemistry in MC.Methods and resultsWe evaluated sections from 25 cases of MC, including 20 extraskeletal and five osseous. The tumour affected nine females and 16 males, with a median age of 34 years (age range = 7–82 years). Two different rabbit antibodies against NKX3.1 (monoclonal and polyclonal) were used for immunohistochemistry. However, no immunoreactivity was observed with either of the antibodies in all 25 (100%) MC.ConclusionsNKX3.1 immunoreactivity was not identified in our cohort. Clonality of the antibody could not explain the negativity.
Knowledge, attitude, and practice concerning hypoglycaemia, insulin use, and insulin pens in Vietnamese diabetic outpatients: Prevalence and impact on safety and disease control
Authors: Ngo Thi Kim Cuc , Vo Thi Ha , Le Chuyen 
Published: August 2020

AbstractRationale, Aims, and ObjectivesThis study aimed to assess the knowledge, attitude, and practice (KAP) of Vietnamese diabetics in an outpatient setting regarding hypoglycaemia, insulin use, and insulin pen and to evaluate the factors related to the KAP, adverse drug reactions (ADRs), and glycaemic control status.MethodsWe interviewed patients by 16‐item questions on knowledge and eight questions on attitude, and requested the patient to demonstrate the injection technique with a sampled insulin pen.ResultsThe response rate was 74% (148 patients included). The proportions of patient having a good knowledge, positive attitude, and good practice were 45.9%, 78.4%, and 44.6%, respectively. The two most common incorrect steps in using insulin pen were skipping to prime pen needle (90.9%) and not removing the used needle from the pen after using (87.8%). Patients using insulin at least 1 year had better knowledge (P = .025), more positive attitude (P = .017), and better practice of using insulin pen (P = .042). Patients had more positive attitude of insulin's role (P = .038) if they either used insulin in combination with oral diabetic medications or had history of using insulin vials. The number of patients having good knowledge was statistically significant higher in participants who previously received counselling from health professionals (P = .001). We also found a positive correlation between good knowledge of patients and good practice skills (P < .001). Patients with poor practice of insulin were more likely to have ADRs at the injection sites (P = .013). The patients with poorer level of knowledge had significant higher risk of hypoglycaemia (P = .001). KAP levels did not correlate with glycaemic control status.ConclusionsThe majority of outpatients had positive attitude towards insulin's role; however, their knowledge and practice of hypoglycaemia and using insulin pen needs improvement. This study will be helpful in the planning of patient education strategies.
Prediction model of success for external cephalic version. Complications and perinatal outcomes after a successful version
Authors: López‐Pérez Rocío , Lorente‐Fernández Mónica , Velasco‐Martínez María , Martínez‐Cendán Juan Pedro 
Published: August 2020

AbstractAimExternal cephalic version (ECV) is an effective and safe technique for avoiding breech presentation at birth. However, it continues rejected by many women. The aim of this study is to develop a predictive model of success of external cephalic version, determine the safety of the technique and perinatal outcomes after successful version.MethodsData from 317 versions performed over a 6‐year period were collected. Different clinical and ultrasound variables, complications, vaginal delivery after successful version and perinatal outcomes were analyzed.ResultsThe overall success rate was 72% (229 of 317 versions). The variables most related to success were parity, placental location, amniotic fluid volume, fetal sex, fetal head palpation and descent of the presenting part. A model for calculating the probability of success was developed in which to input parity, placentation and amniotic fluid data. The model correctly classified 98.8% of successful technique and 74% of all women. Complications were very few and mostly mild. Of women who had success, 77% (163 of 212) had a vaginal birth. No differences between neonatal outcomes were found.ConclusionExternal cephalic version is a successful, safe technique with a high rate of subsequent vaginal delivery. A success prediction model based on some very easily obtained variables can personalize the probability of success.
Potential effects of SARS‐CoV‐2 infection during pregnancy on fetuses and newborns are worthy of attention
Authors: Dang Dan , Wang Liying , Zhang Chuan , Li Zhenyu , Wu Hui 
Published: August 2020

AbstractThe outbreak of the 2019 novel coronavirus disease (SARS‐CoV‐2) has resulted in a major epidemic threat worldwide. However, the effects of neoviruses on infected pregnant women and especially on their fetuses and newborns are not well understood. Most up‐to‐date evidences about how SARS‐CoV‐2 affected patients especially in pregnancy were collected by conducting a comprehensive search of medical literature electronic databases. Immune‐related data of pregnant women, fetuses and newborns were further analysis. According to the limited literature, SARS‐CoV‐2 utilizes angiotensin converting enzyme 2 as its receptor and causes severe hypoxemia. Insufficiency of angiotensin converting enzyme 2 in pregnant women and the effects of hypoxia on the placental oxygen supply will cause severe perinatal complications. In addition, SARS‐CoV‐2 infection may disrupt maternal‐fetal immune tolerance and cause immunological damage to embryos. Because of these reasons, pregnancy complications such as fetal demise or premature birth, preeclampsia, intrauterine growth restriction, respiratory dyspnea, nervous system dysplasia and immune system defects are likely to occur in pregnant women with COVID‐19 or their newborns. Pregnant women infected with SARS‐CoV‐2 should be treated as a special group and given special attention. Fetuses and newborns of SARS‐CoV‐2‐infected pregnant women should be given more protection to reduce the occurrence of adverse events. In this review, we intend to provide an overview of the physiological and immunological changes that induce the pregnancy complications. This article will benefit the treatment and prognosis of fetuses and newborns of SARS‐CoV‐2‐infected pregnant women.
The evaluation of laparotomy results in breast cancer patients with gynecological pathologies
Authors: Şahin Uysal Nihal , Boyraz Gökhan , Usubütün Alp , Tuncer Zafer S. 
Published: August 2020

AbstractAimThe aim of the study was to evaluate the results of the laparotomies due to gynecological pathologies in breast cancer patients and to assess the distribution of gynecological pathologies and the clinical and laboratory findings contributing to the diagnosis.MethodsThis study was conducted between years 2002 and 2011 at Hacettepe University Hospital. We obtained information about 86 consecutive breast cancer patients, including age, time of diagnosis and pathology of breast cancer, hormone receptor status, history of endocrine therapy, presenting symptoms, ultrasonography findings, CA 125 levels, endometrial biopsy results, type of gynecological surgery and pathology results. Data were analyzed with the use of SPSS software.ResultsTwenty‐one (24.4%) out of 86 patients had endometrial pathology, and 24 (27.9%) had adnexal pathology. Fourteen patients (16.2%) had malignant pathology, and of them, 11 had ovarian cancer 3 had endometrial cancer. There were five abnormal cytological findings: 2 ASCUS, 1 LSIL, 1 ASC‐H and 1 adenocarcinoma. The patient with the cytology report of adenocarcinoma had the final diagnosis of endometrial cancer. Of the patients, 67 (77.9%) used tamoxifen, whereas 19 (22.1%) did not. Thirty‐three patients (38.4%) with gynecological pathologies were detected incidentally during routine follow‐up of breast cancer.ConclusionThis study supports the increase of the gynecological pathology incidence in breast cancer patients and the recommendation of close gynecological follow‐up in these patients. Asymptomatic patients might also develop genital cancer. The ultrasonographic appearance of the adnexal masses or endometrial thickness and any abnormal vaginal bleeding or high CA 125 levels are important parameters for evaluating breast cancer patients.
Verbal cues to deceit when lying through omitting information
Authors: Leal Sharon , Vrij Aldert , Deeb Haneen , Hudson Charlotte , Capuozzo Pasquale , Fisher Ronald P. 
Published: August 2020

BackgroundLying through omitting information has been neglected in verbal lie detection research. The task is challenging: Can we decipher from the truthful information a lie teller provides that s/he is hiding something? We expected this to be the case because of lie tellers’ inclination to keep their stories simple. We predicted lie tellers to provide fewer details and fewer complications than truth tellers, the latter particularly after exposure to a Model Statement.MethodA total of 44 truth tellers and 41 lie tellers were interviewed about a conversation (debriefing interview) they had taken part in earlier. Lie tellers were asked not to discuss one aspect of that debriefing interview.ResultsResults showed that truth tellers reported more complications than lie tellers after exposure to a Model Statement.ConclusionIdeas about future research in lying through omissions are discussed.
The applicability of generalisability and bias to health professions education's research
Authors: Varpio Lara , O'Brien Bridget , Rees Charlotte E. , Monrouxe Lynn , Ajjawi Rola , Paradis Elise 
Published: August 2020

AbstractContextResearch in health professions education (HPE) spans an array of topics and draws from a diversity of research domains , which brings richness to our understanding of complex phenomena and challenges us to appreciate different approaches to studying them. To fully appreciate and benefit from this diversity, scholars in HPE must be savvy to the hallmarks of rigour that differ across research approaches. In the absence of such recognition, the valuable contributions of many high‐quality studies risk being undermined.MethodsIn this article, we delve into two constructs‐‐‐generalisability and bias‐‐that are commonly invoked in discussions of rigour in health professions education research. We inspect the meaning and applicability of these constructs to research conducted from different paradigms (i.e., positivist and constructivist) and orientations (i.e., objectivist and subjectivist) and then describe how scholars can demonstrate rigour when these constructs do not align with the assumptions underpinning their research.ConclusionsA one‐size‐fits‐all approach to evaluating the rigour of HPE research disadvantages some approaches and threatens to reduce the diversity of research in our field. Generalisability and bias are two examples of problematic constructs within paradigms that embrace subjectivity; others are equally problematic. As a way forward, we encourage HPE scholars to inspect their assumptions about the nature and purpose of research—both to defend research rigour in their own studies and to ensure they apply standards of rigour that align with research they read and review.
Extracellular matrix remodelling is associated with muscle force increase in overloaded mouse plantaris muscle
Authors: Stantzou A. , Relizani K. , Morales‐Gonzalez S. , Gallen C. , Grassin A. , Ferry A. , Schuelke M. , Amthor H. 
Published: August 2020

AimsTransforming growth factor‐β (TGF‐β) signalling is thought to contribute to the remodelling of extracellular matrix (ECM) of skeletal muscle and to functional decline in patients with muscular dystrophies. We wanted to determine the role of TGF‐β‐induced ECM remodelling in dystrophic muscle.MethodsWe experimentally induced the pathological hallmarks of severe muscular dystrophy by mechanically overloading the plantaris muscle in mice. Furthermore, we determined the role of TGF‐β signalling on dystrophic tissue modulation and on muscle function by (i) overloading myostatin knockout (Mstn−/−) mice and (ii) by additional pharmacological TGF‐β inhibition via halofuginone.ResultsTranscriptome analysis of overloaded muscles revealed upregulation predominantly of genes associated with ECM, inflammation and metalloproteinase activity. Histology revealed in wild‐type mice signs of severe muscular dystrophy including myofibres with large variation in size and internalized myonuclei, as well as increased ECM deposition. At the same time, muscle weight had increased by 208% and muscle force by 234%. Myostatin deficiency blunted the effect of overload on muscle mass (59% increase) and force (76% increase), while having no effect on ECM deposition. Concomitant treatment with halofuginone blunted overload‐induced muscle hypertrophy and muscle force increase, while reducing ECM deposition and increasing myofibre size.ConclusionsECM remodelling is associated with an increase in muscle mass and force in overload‐modelled dystrophic muscle. Lack of myostatin is not advantageous and inhibition of ECM deposition by halofuginone is disadvantageous for muscle plasticity in response to stimuli that induce dystrophic muscle.