bluuebunny/crossref_metadata_2025_split huggingface dataset:
The benign c.344G > A: p.(Arg115His) variant in the LDLR gene interpreted from a pedigree-based genetic analysis of familial hypercholesterolemia
Authors: Hori Mika , Takahashi Atsushi , Son Cheol , Ogura Masatsune , Harada-Shiba Mariko 
Published: April 2020

AbstractBackgroundWe previously identified the c.344G > A: p.(Arg115His) variant in the low-density lipoprotein receptor (LDLR)gene, which was interpreted as “conflicting interpretations of pathogenicity” in ClinVar, based on a genetic analysis of patients with familial hypercholesterolemia (FH). However, whether this variant affects the pathophysiology of FH remains unclear. Therefore, our aim was to annotate the c.344G > A: p.(Arg115His) variant in theLDLRgene in FH. We present 2 families harboring the c.344G > A: p.(Arg115His) variant in theLDLRgene.MethodsGenetic analyses were performed for the coding regions and the exon-intron boundary sequence of theLDLRand proprotein convertase subtilisin/kexin type 9 (PCSK9)genes in 2 FH families. Next, the family without pathogenic variants in theLDLRandPCSK9genes was screened by whole-exome sequencing. Detailed clinical and biochemical data were gathered from family members.ResultsIn one family, the index case had biallelic c.1567G > A: p.(Val523Met) and c.344G > A: p.(Arg115His) variants in theLDLRgene, while the sibling had only the c.1567G > A: p.(Val523Met) variant in theLDLRgene. There was no difference in the FH phenotype between the siblings. In another family, the index case and the sibling had no pathogenic variants in theLDLR,PCSK9, and apolipoprotein B (APOB)genes, but the sibling’s wife with nonFH had the c.344G > A: p.(Arg115His) variant in theLDLRgene. The sibling and his wife had 4 children, including an unaffected child and an affected child who had the c.344G > A: p.(Arg115His) variant in theLDLRgene. In addition, the allele frequency of the c.344G > A: p.(Arg115His) variant (0.0023–0.0043) in Japanese and East Asian populations is relatively high compared with that of the otherLDLRpathogenic variants (0.0001–0.0008).ConclusionsThe c.344G > A: p.(Arg115His) variant in theLDLRgene is interpreted as benign in individuals with FH.
Prevalence and factors associated with depression among pregnant mothers in the West Shoa zone, Ethiopia: a community-based cross-sectional study
Authors: Tiki Takele , Taye Kefyalew , Duko Bereket 
Published: April 2020

Abstract
Background
Depression during pregnancy, the most prevalent mental health problem, can alter fetal development and has important consequences on the offspring’s physical and mental health. Evidence suggests increasing rates of prevalence of depression in low-income settings such as Ethiopia. However, there are a few studies on the topic with inconsistent results. Therefore, the aim of this study was to investigate the prevalence of antenatal depression and its correlates among pregnant women in Ethiopia.

Methods
A community-based cross-sectional study was conducted in the West Shoa zone, Oromia regional state, Ethiopia, from February 20, 2018, to March 20, 2018. Pregnant women were recruited by using cluster sampling techniques. Data on socio-demographic, obstetric, and psychosocial characteristics were collected by interviewer-administered questionnaire. Patient Health Questionnaire (PHQ-9) was used to assess depression during pregnancy. Bivariable and multivariable logistic regression analyses were fitted to identify correlates of depression. The level of statistical significance was declared at p value < 0.05.

Results
The mean age (± SD) of the pregnant women was 28.41 ± 5.9 years. The prevalence of depression during pregnancy was 32.3%. When we adjusted for possible confounding variables in the final model; those pregnant mothers with an average monthly income of less than 500 (18 USD) Ethiopian birr [AOR = 3.19, 95% CI (1.47, 6.96)], unplanned pregnancy [AOR = 1.52, 95% CI (1.04, 2.21)] and having history of abortion [AOR = 5.13, 95% CI (2.42, 10.85)] have higher odds of depression when compared to their counterparts.

Conclusion
The prevalence of depression during pregnancy was high. Strengthening the counseling service as well as increasing access and availability of modern contraceptive methods may reduce the rates of unplanned pregnancy in Ethiopia and this, in turn, plays a significant role in alleviating a resultant depression. Further, the integration of mental health services with existing maternal health care as well as strengthening the referral system among public health centers was warranted to minimize antenatal depression in the West Shoa zone health facilities.
High rumen degradable starch decreased goat milk fat via trans-10, cis-12 conjugated linoleic acid-mediated downregulation of lipogenesis genes, particularly, INSIG1
Authors: Zheng Lixin , Wu Shengru , Shen Jing , Han Xiaoying , Jin Chunjia , Chen Xiaodong , Zhao Shengguo , Cao Yangchun , Yao Junhu 
Published: April 2020

Abstract
Background
Starch is an important substance that supplies energy to ruminants. To provide sufficient energy for high-yielding dairy ruminants, they are typically fed starch-enriched diets. However, starch-enriched diets have been proven to increase the risk of milk fat depression (MFD) in dairy cows. The starch present in ruminant diets could be divided into rumen-degradable starch (RDS) and rumen escaped starch (RES) according to their different degradation sites (rumen or intestine). Goats and cows have different sensitivities to MFD. Data regarding the potential roles of RDS in milk fat synthesis in the mammary tissue of dairy goats and in regulating the occurrence of MFD are limited.

Results
Eighteen Guanzhong dairy goats (day in milk = 185 ± 12 d) with similar parity, weight, and milk yield were selected and randomly assigned to one of three groups (n = 6), which were fed an LRDS diet (Low RDS = 20.52%), MRDS diet (Medium RDS = 22.15%), or HRDS diet (High RDS = 24.88%) for 5 weeks. Compared with that of the LRDS group, the milk fat contents in the MRDS and HRDS groups significantly decreased. The yields of short-, medium- and long-chain fatty acids decreased in the HRDS group. Furthermore, increased RDS significantly decreased ruminal B. fibrisolvens and Pseudobutyrivibrio abundances and increased the trans-10, cis-12 conjugated linoleic acid (CLA) and trans-10 C18:1 contents in the rumen fluid.
A multiomics study revealed that the HRDS diet affected mammary lipid metabolism down-regulation of ACSS2, MVD, AGPS, SCD5, FADS2, CERCAM, SC5D, HSD17B7, HSD17B12, ATM, TP53RK, GDF1 and LOC102177400. Remarkably, the significant decrease of INSIG1, whose expression was depressed by trans-10, cis-12 CLA, could reduce the activity of SREBP and, consequently, downregulate the downstream gene expression of SREBF1.

Conclusions
HRDS-induced goat MFD resulted from the downregulation of genes involved in lipogenesis, particularly, INSIG1. Specifically, even though the total starch content and the concentrate-to-fiber ratio were the same as those of the high-RDS diet, the low and medium RDS diets did not cause MFD in lactating goats.
Low Quality of Reports on Blood Pressure in Patients Adrenalectomized for Unilateral Primary Aldosteronism
Authors: Lenders Jacques W M , Deinum Jaap , Passauer Jens , Januszewicz Andrezj , Chan On Ying A , Prejbisz Aleksander 
Published: April 2020

Abstract

Context
Adrenalectomy is the preferred treatment for unilateral primary aldosteronism but the results of long-term control of blood pressure (BP) are far from optimal. One possible explanation relates to the quality of the assessment of treatment effects on BP.

Purpose of the study
To examine the quality of reporting BP measurements in studies assessing the outcome of adrenalectomy on BP.

Methods
We conducted a systematic review searching 3 databases (PubMed, EMBASE, Web of Science) for articles published from January 1, 1990, onwards. Sixty-six studies, each reporting on more than 50 adrenalectomized patients, were eligible for full analysis.

Results
In 37 of the analyzed 66 studies (56.1%) BP values both before and after adrenalectomy were reported. In 19.7% (13/66) of the studies the method of BP measurement was described. The number of visits and number of BP recordings per visit on which BP results were based were reported in &lt;15% of papers. The criteria for the diagnosis of hypertension were described in 72.7% (48/66) of the studies. The used definitions of improvement of BP control after adrenalectomy were variable, with 84.8% of the studies not providing any quantitative criteria to define reduction in BP.

Conclusion
We conclude that the quality of reporting on BP control after adrenalectomy for primary aldosteronism shows substantial deficiencies and inconsistencies, thus impacting negatively on accurate assessment of effects of adrenalectomy on BP control. Future studies should adhere to accepted recommendations of correct BP measurement and should provide detailed description of the methods used for BP measurement.
Novel Roles of Chloroquine and Hydroxychloroquine in Graves’ Orbitopathy Therapy by Targeting Orbital Fibroblasts
Authors: Guo Yan , Li Hai , Chen Xueying , Yang Huasheng , Guan Hongyu , He Xiaoying , Chen Yuxin , Pokharel Sunil , Xiao Haipeng , Li Yanbing 
Published: April 2020

AbstractContextGraves’ orbitopathy (GO) causes infiltrative exophthalmos by inducing excessive proliferation, adipogenesis, and glycosaminoglycan production in orbital fibroblasts (OFs). Interference with OF autophagy is a potential therapy for proptosis.ObjectivesHere, we aimed to evaluate the effects of chloroquine (CQ) and hydroxychloroquine (HCQ), the autophagy inhibitors commonly used in clinical practice, on OFs.Design/Setting/ParticipantsOFs isolated from patients with GO (GO-OFs) or control individuals (non-GO-OFs) were cultured in proliferation medium (PM) or subjected to differentiation medium. OFs were treated with CQ or HCQ (0, 0.5, 2, and 10 μM), and subsequently examined in vitro.Main Outcome MeasuresCCK-8, EdU incorporation, and flow cytometry assays were used to assess cellular viability. Adipogenesis was assessed with Western blot analysis, real-time polymerase chain reaction (PCR) , and Oil Red O staining. Hyaluronan production was determined by real-time PCR and enzyme-linked immunosorbent assay. Autophagy flux was detected through red fluorescent protein (RFP)-green fluorescent protein (GFP)-LC3 fluorescence staining and Western blot analyses.ResultsCQ/HCQ halted proliferation and adipogenesis in GO-OFs in a concentration-dependent manner through blockage of autophagy, phenotypes that were not detected in non-GO-OFs. The inhibitory effect of CQ/HCQ on hyaluronan secretion of GO-OFs was also concentration dependent, mediated by downregulation of hyaluronan synthase 2 rather than hyaluronidases. Moreover, CQ (10 μM) induced GO-OF apoptosis without aggravating oxidative stress.ConclusionsThe antimalarials CQ/HCQ affect proliferation, adipogenesis, and hyaluronan generation in GO-OFs by inhibiting autophagy, providing evidence that they can be used to treat GO as autophagy inhibitors.
Responsible use of organoids in precision medicine: the need for active participant involvement
Authors: Lensink Michael A. , Jongsma Karin R. , Boers Sarah N. , Noordhoek Jacquelien J. , Beekman Jeffrey M. , Bredenoord Annelien L. 
Published: April 2020

ABSTRACT
Organoids are three-dimensional multicellular structures grown in vitro from stem cells and which recapitulate some organ function. They are derivatives of living tissue that can be stored in biobanks for a multitude of research purposes. Biobank research on organoids derived from patients is highly promising for precision medicine, which aims to target treatment to individual patients. The dominant approach for protecting the interests of biobank participants emphasizes broad consent in combination with privacy protection and ex ante (predictive) ethics review. In this paradigm, participants are positioned as passive donors; however, organoid biobanking for precision medicine purposes raises challenges that we believe cannot be adequately addressed without more ongoing involvement of patient-participants. In this Spotlight, we argue why a shift from passive donation towards more active involvement is particularly crucial for biobank research on organoids aimed at precision medicine, and suggest some approaches appropriate to this context.
Alkaline guts contribute to immunity during exposure to acidified seawater in the sea urchin larva
Authors: Stumpp Meike , Petersen Inga , Thoben Femke , Yan Jia-Jiun , Leippe Matthias , Hu Marian Y. 
Published: April 2020

Larval stages of the abulacraria superphylum including echinoderms and hemichordates have highly alkaline midguts. To date the reason for the evolution of such extreme pH conditions in the gut of these organisms remains unknown. Here, we test the hypothesis that analogous to the acidic stomachs of vertebrates, these alkaline conditions may represent a first defensive barrier to protect from environmental pathogens.
pH-optimum curves for five different species of marine bacteria demonstrated a rapid decrease in proliferation rates by 50-60% between pH 8.5 and 9.5. Using the marine bacterium Vibrio diazotrophicus which elicits a coordinated immune response in the sea urchin larva of Strongylocentrotus purpuratus, we studied the physiological responses of the midgut pH regulatory machinery to this pathogen. Gastroscopic microelectrode measurements demonstrate a stimulation of midgut alkalization upon infection with V. diazotrophicus accompanied by an upregulation of acid-base transporter transcripts of the midgut. Pharmacological inhibition of midgut alkalization resulted in an increased mortality rate of larvae during Vibrio infection. Reductions in seawater pH resembling ocean acidification (OA) conditions lead to moderate reductions in midgut alkalization. However, these reductions in midgut pH do not affect the immune response and resilience of sea urchin larvae to a Vibrio infection under OA conditions.
Our study addressed the evolutionary benefits of the alkaline midgut of ambulacraria larval stages. The data indicate that alkaline conditions in the gut may serve as a first defensive barrier against environmental pathogens and that this mechanism can compensate for changes in seawater pH.
Using TENS to Enhance Therapeutic Exercise in Individuals with Knee Osteoarthritis
Authors: PIETROSIMONE BRIAN , LUC-HARKEY BRITTNEY A. , HARKEY MATTHEW S. , DAVIS-WILSON HOPE C. , PFEIFFER STEVEN J. , SCHWARTZ TODD A. , NISSMAN DANIEL , PADUA DARIN A. , BLACKBURN J TROY , SPANG JEFFERY T. 
Published: April 2020

ABSTRACT
Transcutaneous electrical nerve stimulation (TENS) facilitates quadriceps voluntary activation in experimental settings. Augmenting therapeutic exercise (TE) with TENS may enhance the benefits of TE in individuals with knee osteoarthritis (KOA) and quadriceps voluntary activation failure (QVAF).

Purpose
This study aimed to determine the effect of TENS + TE on patient-reported function, quadriceps strength, and voluntary activation, as well as physical performance compared with sham TENS + TE (Sham) and TE alone in individuals with symptomatic KOA and QVAF.

Methods
Ninety individuals participated in a double-blinded randomized controlled trial. Everyone received 10 standardized TE sessions of physical therapy. TENS + TE and Sham groups applied the respective devices during all TE sessions and throughout activities of daily living over 4 wk. The Western Ontario and McMaster University Osteoarthritis Index (WOMAC), quadriceps strength, and voluntary activation, as well as a 20-m walk test, chair-stand test, and stair-climb test were performed at baseline, after the 4-wk intervention (post 1) and at 8 wk after the start of the intervention (post 2). Mixed-effects models were used to determine between-group differences between baseline and post 1, as well as baseline and post 2.

Results
Improvements in WOMAC subscales, quadriceps strength, and voluntary activation, 20-m walk times, chair-stand repetitions, and stair-climb time were found at post 1 and post 2 compared with baseline for all groups (P < 0.05). WOMAC Pain and Stiffness improved in the TENS + TE group compared with TE alone at post 1 (P < 0.05); yet, no other between-group differences were found.

Conclusions
TE effectively improved patient-reported function, quadriceps strength, and voluntary activation, as well as physical performance in individuals with symptomatic KOA and QVAF, but augmenting TE with TENS did not improve the benefits of TE.
Case Report: Rare site for intraoral meningioma
Authors: Amer Hatem Wael , Hafed Layla , Ibrahim Sally , Shaker Shady 
Published: April 2020

Extracranial meningioma is very rare with few cases reported, especially in the oral cavity. Its diagnosis is considered a challenge owing to the unusual site of occurrence. We report, to the best of our knowledge, the first case of extra-cranial meningioma as a primary tumor in the hard palate with no detected intracranial extension. A 59-year-old Egyptian female patient presented with a 22-year history of a large painless swelling at the right side of the hard palate, which could not be seen on radiographs. An incisional biopsy was taken and, after assessment with a panel of immunohistochemical markers, the lesion was diagnosed as extracranical grade I mengiothelial meningioma. The patient did not show up for surgical excision and follow-up was not performed because of the lose of contact with the patient. Intraoral meningioma is a rare tumor. Immuohistochemical markers are important for confirming this diagnosis.
Cervical spine clearance after blunt trauma: current state of the art
Authors: Moeri Michaël , Rothenfluh Dominique A. , Laux Christoph J. , Dominguez Dennis E. 
Published: April 2020

No definite consensus exists for the clearance of the cervical spine (C-spine) after blunt trauma, despite many validated algorithms, recommendations and guidelines. We intend to answer the most relevant questions with which physicians are confronted when clearing C-spines after blunt trauma in emergency departments (EDs). To exclude significant C-spine injuries we designed an algorithm to be compatible with clinical practice, to simplify patient management and avoid unrewarding evaluation. We conducted an exploratory PubMed search including articles published from January 2000 to October 2018. Keywords used were “cervical spine”, “injury”, “clearance”, “Canadian C-spine Rule”, “CCR” and “national emergency x-radiography utilization study”. Clinical and experimental studies were included in a detailed review. We based our literature review on 33 articles. While answering fundamental triage questions from daily clinical practice, the current literature is discussed in detail. We designed an algorithm for the C-spine clearance suitable for any trauma centre with a high-quality multiplanar reconstruction computerized tomography (CT) scan continuously available. The high sensitivity of the Canadian C-spine Rule (CCR) prevents missing C-spine injuries while limiting the amount of unnecessary radiologic examinations. Plain radiographs were fully abandoned for C-spine clearance. A negative CT scan is sufficient to clear the majority of C-spine injuries and allows for collar removal. In case of motor symptoms or radio-clinical discrepancy, the advice of a specialized spine surgeon must be requested. Magnetic resonance imaging must not be routinely used. Neck pain despite negative imaging is not a reason to delay removal of stiff cervical collars. Cite this article: EFORT Open Rev 2020;5:253-259. DOI: 10.1302/2058-5241.5.190047
Dynamics of Common Sterna hirundo and Little Tern Sternula albifrons populations along the Sava River in North-western Croatia between 2002 and 2019
Authors: Kralj Jelena , Martinović Miloš , Rubinić Tomica , Krnjeta Davor , Jurinović Luka 
Published: April 2020

Abstract
Between 2002 and 2019, monitoring of Common Tern Sterna hirundo and Little Tern Sternula albifrons along the Sava River near Zagreb, Croatia was conducted. Natura 2000 site “Sava kod Hrušćice” was designated to protect colony at river islands, with estimated population sizes of 100–150 pairs of Common and 20 pairs of the Little Tern. Flooding of the colony caused breeding failure in several years. Common Terns moved to breed on islands in gravel pits with a total population around 150 pairs, while Little Tern did not breed after 2010. In the last few years, terns have not bred at Hrušćica and the only colony inside the Natura 2000 site is situated on a breeding platform at Siromaja gravel pit. Channelling of rivers and hydropower plants are the main threats, changing natural dynamics of water level and causing reduction of gravel sediment in rivers.
37 years of Common Tern Sterna hirundo breeding at Sečovlje Salina
Authors: Škornik Iztok 
Published: April 2020

Abstract
Years ago, the Common Tern Sterna hirundo was known to nest in Slovenia along larger watercourses. Today it only breeds locally in artificially built nesting areas. On the seashore, its nesting was confirmed for the first time in 1983, when 9 pairs bred in the Sečovlje Saltpans. In the same year, we started mapping the breeders in the Sečovlje Saltpans, which has continued till this very day. Since 2010, we have been systematically collecting data on the number of fledged birds. In 1991, the number of breeding pairs increased, which coincides with the increase in other parts of the Mediterranean. Since 1991, the size of the breeding population has been quite stable, ranging from 30 to 70 pairs. The Common Tern’s breeding success in the Sečovlje Saltpans is poor, mainly due to precipitation (40% of all unsuccessful nests) and predation (35%). Long, dry periods without rainfall have a positive effect on the hatching and fledging success. Appropriate water management, artificial islands and access to nesting sites control can prevent the disturbance caused by visitors and, in part, predators such as foxes and martens. At the Sečovlje Saltpans, the Common Tern’s survival depends entirely on the active management. The expected climate change, with increasing sea level rise and consequently more frequent flooding of low-lying areas, further aggravates its existence and survival in the Sečovlje Saltpans.
Sıkıştırılmış yüksek plastisiteli kil bir zeminde hacim değişimi davranışının farklı başlangıç koşulları için incelenmesi
Authors: GENÇDAL Hazal Berrak , BERİLGEN Saadet Arzu , KILIÇ Havvanur 
Published: April 2020

Bu çalışmada, yüksek plastisiteli bir kil zeminin
dolgu inşasında kullanıldığında, yapının hizmet ömrü boyunca farklı düşey gerilmeler
altında su ile karşılaşması durumunda meydana gelecek hacim değişimi davranışı üç
seri konsolidasyon deneyi ile incelenmiştir. Bu kapsamda konsolidasyon deneylerinde
kullanılan numuneler modifiye kompaksiyon yöntemi ile belirlenen optimum su
muhtevası (wopt=%18,7) ve bu değerin ıslak tarafında iki su
muhtevası (wopt+5= %23,7 ve wopt+7=%25,7)
ve %90 ve %95 rölatif kompaksiyon (R.K.) oranlarında sıkıştırılarak
hazırlanmıştır. 1. Seri konsolidasyon deneylerinde, zeminin sıkıştırıldığı su
muhtevası değerlerinde sulu (S-su ilaveli) ve susuz (N) olarak yüksek basınçlar
altında göstereceği kısa süreli oturma davranışı, 2. Seri konsolidasyon deneylerinde
(S50, S100, S200 ve S800), sırasıyla 50, 100, 200 ve 800 kPa değerlerinde su
ilave edilmesi ile göstereceği şişme davranışı, 3. Seri konsolidasyon deneylerinde (K) ise,
her bir yükleme kademesinde deformasyonların tamamen sönümlenmesi beklenerek göstereceği
uzun süreli oturma (krip) davranışı araştırılmıştır. Yapılan 1. ve 2. seri konsolidasyon
deneylerinde, su muhtevasının artması ile şişmeye olan eğilimin azaldığı ve oturmanın
arttığı görülmüştür. 3.seri konsolidasyon deneylerinde hiçbir numunede krip
davranışı görülmemiştir.