bluuebunny/crossref_metadata_2025 huggingface dataset:
Proximal junctional kyphosis in Lenke 5 AIS patients: the important factor of pelvic incidence
Authors: Zhou Quan , Hu Bowen , Yang Xi , Song Yueming , Liu Limin , Wang Linnan , Wang Lei , Zhou Chunguang , Zhou Zhongjie , Xiu Peng , Wang Liang
Published: February 2021

Background

The purpose of the study was to investigate whether pelvic incidence (PI) will affect the occurrence of PJK in Lenke 5 AIS patients after correction surgery and try to explore a better surgical scheme based on PI.

Methods

Lenke 5C AIS patients that underwent correction surgery with a minimum of a 2-year follow-up were identified. Demographic and radiographic data were collected preoperatively, postoperatively, and at the final follow-up. The comparison between the PJK and the Non-PJK group was conducted and the subgroup analysis was performed based on the preoperative value of PI to investigate the potential mechanism of PJK. Clinical assessments were performed using the Scoliosis Research Society (SRS)-22 questionnaire.

Results

The mean preoperative Cobb angle of the TL/L curve was 53.4°±8.6. At the final follow-up, the mean TL/L Cobb angle was drastically decreased to 7.3°±6.8 (P < 0.001). The incidence of PJK in Lenke 5 AIS was 18.6 %, 21.9 % (7/32) in the low PI group (PI < 45°) and 15.8 % (6/38) in the high PI group (PI ≥ 45°), and there was no statistical difference between the two groups (χ2 = 0.425, P = 0.514). For low PI patients, there is no significant difference where the UIV is located with regards to the TK apex between the PJK and Non-PJK subgroups (χ2 = 1.103, P = 0.401). For high PI patients, PJK was more likely to occur when UIV was cephalad to than caudal to the TK apex (31.25 % vs. 4.7 %, P = 0.038). There was no significant difference in the selection of LIV between the two groups.

Conclusions

There is no difference in the incidence of PJK between the Lenke 5 AIS patients with low PI (< 45°) and high PI (≥45°), but the main risk factor of PJK should be different. For patients with low PI, overcorrection of LL should be strictly avoided during surgery. For patients with high PI, the selection of UIV should not be at or cephalad to the apex of thoracic kyphosis to retain more mobile thoracic segments.
An analysis of core EPAs reveals a gap between curricular expectations and medical school graduates’ self-perceived level of competence
Authors: Marty Adrian , Frick Sonia , Bruderer Enzler Heidi , Zundel Sabine
Published: February 2021

Background

Entrustable Professional Activities (EPAs) are being implemented worldwide as a means to promote competency-based medical education. In Switzerland, the new EPA-based curriculum for undergraduate medical education will be implemented in 2021. The aim of our study was to analyze the perceived, self-reported competence of graduates in 2019. The data represent a pre-implementation baseline and will provide guidance for curriculum developers.

Methods

Two hundred eighty-one graduates of the Master of Human Medicine program of the University of Zurich who had passed the Federal Licensing Exam in September 2019 were invited to complete an online survey. They were asked to rate their needed level of supervision (“observe only”, “direct, proactive supervision”, “indirect, reactive supervision”) for 46 selected EPAs. We compared the perceived competence with the expected competence of the new curriculum.

Results

The response rate was 54%. The need for supervision expressed by graduates varied considerably by EPA. The proportion of graduates rating themselves at expected level was high for “history taking”, “physical examination” “and documentation”; medium for “prioritizing differential diagnoses”, “interpreting results” and “developing and communicating a management plan”; low for “practical skills”; and very low for EPAs related to “urgent and emergency care”.

Conclusions

Currently, there are significant gaps between the expectations of curriculum developers and the perceived competences of students. This is most obvious for practical skills and emergency situations. The new curriculum will either need to fill this gap or expectations might need to be revised.
Exome sequencing detected an extremely rare case of foetal onset familial haemophagocytic lymphohistiocytosis type 5 presenting with hydrops foetalis
Authors: Thadchanamoorthy V. , Jayatunga M. T. R. , Dayasiri Kavinda , Jasinge E. , Jinnah M. L. M. , Pereira C. , Skrahina V. , Thirukumar Markandu
Published: February 2021

Background

Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous autosomal recessive hyper-inflammatory syndrome which needs early accurate diagnosis and appropriate treatment to prevent complications and early mortality. Recently, it was reported that mutations in STXBP2 gene are linked to FHL type 5 (FHL-5).

Case Presentation

We report a Sri Lankan neonate who presented with low Apgar scores at birth, abdominal distension, and hepatosplenomegaly, followed by lethargy, poor sucking and rapid decompensation with wide spread activation of inflammation within 48 h of birth. Her elder sibling also had a similar presentation during early neonatal period and deceased at two weeks of age with no diagnosis. Unfortunately, the index case deceased at 14 days of age following multi-organ dysfunction and severe metabolic acidosis. Targeted gene panel followed by reflex exome sequencing revealed a novel likely pathogenic homozygous variant in the STXBP2 gene (NM_001272034.1:c.1141-2A > G) which confirmed the diagnosis of autosomal recessive FHL-5.

Conclusion

Early diagnosis of FHL type 5 using genetic analysis and timely treatment are difficult in the absence of family history due to a wide spectrum of clinical manifestations. However both early diagnosis and treatment doesn’t alter the long term prognosis. So genetic counselling would be the better option.
The construction, expression, and enhanced anti-tumor activity of YM101: a bispecific antibody simultaneously targeting TGF-β and PD-L1
Authors: Yi Ming , Zhang Jing , Li Anping , Niu Mengke , Yan Yongxiang , Jiao Ying , Luo Suxia , Zhou Pengfei , Wu Kongming
Published: February 2021

Background

Therapeutic antibodies targeting programmed cell death protein 1 (PD-1)/programmed death-ligand 1 (PD-L1) axis induce potent and durable anti-tumor responses in multiple types of cancers. However, only a subset of patients benefits from anti-PD-1/PD-L1 therapies. As a negative regulator of anti-tumor immunity, TGF-β impairs the efficacy of anti-PD-1/PD-L1 and induces drug resistance. Developing a novel treatment strategy to simultaneously block PD-1/PD-L1 and TGF-β would be valuable to enhance the effect of anti-PD-1/PD-L1 and relieve drug resistance.

Methods

Based on the Check-BODY™ technology platform, we developed an anti-TGF-β/PD-L1 bispecific antibody YM101. The bioactivity of the anti-TGF-β moiety was determined by Smad-luciferase reporter assay, transwell assay, western blotting, CCK-8, and flow cytometry. The bioactivity of the anti-PD-L1 moiety was measured by T cell activation assays. EMT-6, CT26, and 3LL tumor models were used to investigate the anti-tumor activity of YM101 in vivo. RNA-seq, immunohistochemical staining, and flow cytometry were utilized to analyze the effect of YM101 on the tumor microenvironment.

Results

YM101 could bind to TGF-β and PD-L1 specifically. In vitro experiments showed that YM101 effectively counteracted the biological effects of TGF-β and PD-1/PD-L1 pathway, including activating Smad signaling, inducing epithelial-mesenchymal transition, and immunosuppression. Besides, in vivo experiments indicated the anti-tumor activity of YM101 was superior to anti-TGF-β and anti-PD-L1 monotherapies. Mechanistically, YM101 promoted the formation of ‘hot tumor’: increasing the numbers of tumor infiltrating lymphocytes and dendritic cells, elevating the ratio of M1/M2, and enhancing cytokine production in T cells. This normalized tumor immune microenvironment and enhanced anti-tumor immune response might contribute to the robust anti-tumor effect of YM101.

Conclusion

Our results demonstrated that YM101 could simultaneously block TGF-β and PD-L1 pathways and had a superior anti-tumor effect compared to the monotherapies.
Efficacy of Bravecto® Plus spot-on solution for cats (280 mg/ml fluralaner and 14 mg/ml moxidectin) for the prevention of aelurostrongylosis in experimentally infected cats
Authors: Raue Katharina , Rohdich Nadja , Hauck Daniela , Zschiesche Eva , Morelli Simone , Traversa Donato , Di Cesare Angela , Roepke Rainer K. A. , Strube Christina
Published: February 2021

Background

The feline lungworm Aelurostrongylus abstrusus affects the lower respiratory tract in cats worldwide. As infections may lead to chronic respiratory changes or even death, preventive treatment in cats with outdoor access is warranted.

Methods

The preventive efficacy of a spot-on solution (Bravecto® Plus spot-on solution for cats, MSD) against cat aelurostrongylosis was evaluated using three different preventive treatment regimes in a negative controlled, randomized and partially blinded laboratory efficacy study with 31 purposed-bred cats. The minimum recommended dose of 2.0 mg moxidectin + 40 mg fluralaner/kg bodyweight was applied once 12 (Group [G]1), 8 (G2) or 4 (G3) weeks before experimental infection with 300 third-stage larvae (L3) of A. abstrusus. Another group served as untreated control (G4). Individual faecal samples were analysed as of day 30 post infection (pi) to monitor larvae excretion. Necropsy was performed at days 47–50 pi. The lungs were examined macroscopically for pathological findings and (pre-)adult worms were counted to assess preventive efficacy.

Results

Beginning at day 32–40 pi, all cats of the control group were constantly shedding larvae of A. abstrusus, whereas only one animal of G1 excreted larvae at several consecutive days. In addition, two cats of G1 and G3 and three of G2 were positive on a single occasion. The geometric mean (GM) of the maximum number of excreted larvae was 7574.29 in the control group compared to 1.10 (G1), 1.19 (G2) and 0.53 (G3), resulting in a GM reduction of > 99.9% in all treatment groups. All lungs of the control animals showed severe or very severe alterations at necropsy, while in 94.44% of the treated cats lung pathology was rated as absent or mild. The GM number of (pre-)adult A. abstrusus retrieved from the lungs was 26.57 in the control group, 0.09 in G1 and 0.00 in G2 and G3. Thus, GM worm count reduction was 99.66% in G1 and 100% in G2 and G3.

Conclusions

A single application of Bravecto® Plus spot-on solution at a dose of 2.0 mg moxidectin + 40 mg fluralaner/kg bodyweight reliably prevents cat aelurostrongylosis for at least 12 weeks.

Graphical Abstract
Metabolic profile of women with PCOS in Brazil: a systematic review and meta-analysis
Authors: Spritzer Poli Mara , Ramos Ramon Bossardi , Marchesan Lucas Bandeira , de Oliveira Monica , Carmina Enrico
Published: February 2021

Background

Polycystic ovary syndrome (PCOS) is a common endocrine disease affecting women of reproductive age and associated with reproductive and metabolic dysfunction. Few studies are available regarding metabolic traits in Brazilian women with PCOS. The aim of this systematic review and meta-analysis was to summarize the available evidence regarding metabolic traits and comorbidities in Brazilian women with polycystic ovary syndrome (PCOS).

Methods

We systematically searched PubMed, Cochrane Central Register of Controlled Trials, and Embase for cross-sectional, case–control, or cohort studies focusing on populations of different regions from Brazil, published until July 31, 2019. Studies were selected if they reported PCOS diagnostic criteria. Studies without a control group were included if they presented relevant metabolic data.

Results

Of 4856 studies initially identified, 27 were included in the systematic review and 12 were included in the meta-analysis, for a total of 995 women with PCOS defined by Rotterdam criteria and 2275 controls from different regions of Brazil. Obesity, metabolic syndrome and IGT were prevalent, and standard mean differences for BMI (SMD 0.67, 95% CI, 0.29, 1.05), waist circumference (SMD 0.22, 95% CI 0.02, 0.41), systolic (SMD 0.66, 95% CI 0.30, 1.01) and diastolic blood pressure (SMD 0.55, 95% CI 0.24, 0.87), glucose (SMD 0.21, 95% CI 0.04, 0.38) and HOMA (SMD 0.78, 95% CI 0.52, 1.04) were significantly higher in Brazilian women with PCOS compared to controls. Lipid profile was more adverse in PCOS vs. non-PCOS women. Between-study heterogeneities were low/moderate for glucose and HOMA and moderate/high for the other variables.

Conclusions

The data of this systematic review and meta-analysis indicate that Brazilian women with PCOS have a worse metabolic profile than women without PCOS with no important regional differences. The prevalence of metabolic changes is intermediate in Brazil vs. other countries.
Genetic and environmental determinants of O6-methylguanine DNA-methyltransferase (MGMT) gene methylation: a 10-year longitudinal study of Danish twins
Authors: Wang Lijie , Mohammadnejad Afsaneh , Li Weilong , Lund Jesper , Li Shuxia , Clemmensen Signe , Timofeeva Maria , Soerensen Mette , Mengel-From Jonas , Christensen Kaare , Hjelmborg Jacob , Tan Qihua
Published: February 2021

Background

Epigenetic inactivation of O6-methylguanine DNA-methyltransferase (MGMT) is associated with increased sensitivity to alkylating chemotherapeutic agents in glioblastoma patients. The genetic background underlying MGMT gene methylation may explain individual differences in treatment response and provide a clue to a personalized treatment strategy. Making use of the longitudinal twin design, we aimed, for the first time, to estimate the genetic contributions to MGMT methylation in a Danish twin cohort.

Methods

DNA-methylation from whole blood (18 monozygotic (MZ) and 25 dizygotic (DZ) twin pairs) repeated 10 years apart from the Longitudinal Study of Aging Danish Twins (LSADT) were used to search for genetic and environmental contributions to DNA-methylation at 170 CpG sites of across the MGMT gene. Both univariate and bivariate twin models were applied. The intraclass correlations, performed on cross-sectional data (246 MZ twin pairs) from an independent study population, the Middle-Aged Danish Twins (MADT), were used to assess the genetic influence at each CpG site of MGMT for replication.

Results

Univariate twin model revealed twelve CpG sites showing significantly high heritability at intake (wave 1, h2 > 0.43), and seven CpG sites with significant heritability estimates at end of follow-up (wave 2, h2 > 0.5). There were six significant CpG sites, located at the gene body region, that overlapped among the two waves (h2 > 0.5), of which five remained significant in the bivariate twin model, which was applied to both waves. Within MZ pair correlation in these six CpGs from MADT demarks top level of genetic influence. There were 11 CpGs constantly have substantial common environmental component over the 10 years.

Conclusions

We have identified 6 CpG sites linked to the MGMT gene with strong and persistent genetic control based on their DNA methylation levels. The genetic basis of MGMT gene methylation could help to explain individual differences in glioblastoma treatment response and most importantly, provide references for mapping the methylation Quantitative Trait Loci (meQTL) underlying the genetic regulation.
Safety assessment of Lactobacillus reuteri IDCC 3701 based on phenotypic and genomic analysis
Authors: Lee Bo Som , Ban O-Hyun , Bang Won Yeong , Chae Seung A , Oh Sangki , Park Chanmi , Lee Minjee , Kim Soo-Jung , Yang Jungwoo , Jung Young Hoon
Published: February 2021

Purpose

Lactobacillus reuteri is one of the most largely studied human-commensal bacteria and widely used as a form of probiotics. Safety of probiotics has become increasingly important for human consumption due to increasing health-concerns in food industry. In this study, the safety of L. reuteri IDCC 3701 isolated from human breast milk was thoroughly investigated.

Methods

Whole-genome sequence analysis was performed to identify antibiotic resistance and toxigenicity of L. reuteri IDCC 3701. Phenotypic analysis such as minimal inhibitory concentration, β-hemolysis, extracellular enzyme activity, and the production of biological amines and L/D-lactate, was investigated. Finally, acute oral toxicity test was performed to access L. reuteri IDCC 3701 safety.

Results

Although multiple resistances to gentamicin and kanamycin were observed in L. reuteri IDCC 3701, it was revealed that these resistances are intrinsic and not transferable through whole-genome analysis. In addition, various phenotypic analysis concerning hemolysis, enzyme activity, and D-lactate production did not show any negative results. Although L. reuteri IDCC 3701 harbors a histidine decarboxylase gene, no biogenic amines were detected. Finally, L. reuteri IDCC 3701 exhibited no evidence of acute toxicity according to an in vivo study.

Conclusion

Our findings demonstrate that L. reuteri IDCC 3701 is considered to be safe for human consumption as probiotics based on the in silico, in vitro and in vivo studies.
Is social camouflaging associated with anxiety and depression in autistic adults?
Authors: Hull Laura , Levy Lily , Lai Meng-Chuan , Petrides K. V. , Baron-Cohen Simon , Allison Carrie , Smith Paula , Mandy Will
Published: February 2021

Background

There is inconsistent evidence for a clear pattern of association between ‘camouflaging’ (strategies used to mask and/or compensate for autism characteristics during social interactions) and mental health.

Methods

This study explored the relationship between self-reported camouflaging and generalised anxiety, depression, and social anxiety in a large sample of autistic adults and, for the first time, explored the moderating effect of gender, in an online survey.

Results

Overall, camouflaging was associated with greater symptoms of generalised anxiety, depression, and social anxiety, although only to a small extent beyond the contribution of autistic traits and age. Camouflaging more strongly predicted generalised and social anxiety than depression. No interaction between camouflaging and gender was found.

Limitations

These results cannot be generalised to autistic people with intellectual disability, or autistic children and young people. The sample did not include sufficient numbers of non-binary people to run separate analyses; therefore, it is possible that camouflaging impacts mental health differently in this population.

Conclusions

The findings suggest that camouflaging is a risk factor for mental health problems in autistic adults without intellectual disability, regardless of gender. We also identified levels of camouflaging at which risk of mental health problems is highest, suggesting clinicians should be particularly aware of mental health problems in those who score at or above these levels.
Combined venous and arterial thrombosis revealing underlying myeloproliferative disorder in a young patient: a case report
Authors: Benmalek Rime , Mechal Hanane , Zahidi Hatim , Mounaouir Karim , Arous Salim , Benouna Mohamed El Ghali , Drighil Abdenasser , Habbal Rachida
Published: February 2021

Background

Myeloproliferative neoplasms (MPNs) such as polycythemia Vera (PV) and Essential Thrombocythemia (ET) can be associated with a high risk of both venous and arterial thrombosis. However, the co-existence between these two complications is very rare and has never been described before, especially in young adults with no known history of MPNs.

Case presentation

We report the case of a 39 year-old Caucasian Moroccan male patient without cardiovascular risk factors (CVRF), who presented with acute chest pain. He also suffered from a severe headache since 2 weeks. Electrocardiogram (ECG) showed ST segment elevation myocardial infarction in the posterolateral leads. Cerebral Computed Tomography (CT) scan revealed subarachnoid hemorrhage (SAH), and cerebral Magnetic Resonance Angiography (MRA) found a Superior Sagittal Sinus Thrombosis (SSST). Routine blood tests showed raised hemoglobin and hematocrit in addition to leukocytosis and thrombocythemia. His coronary angiography revealed a thrombus in the ostial left circumflex artery (LCX). Further testing revealed positive Janus kinase 2 (JAK2) V617F mutation and low erythropoietin level, confirming the diagnosis of PV according to the 2008 World Health Organization (WHO) criteria. Antithrombotic and anti-ischemic treatments, in addition to myelosuppressive therapy with hydroxyurea, were initiated with a good clinical and biological evolution.

Conclusion

This case shows that MPNs are an important cause of thrombosis, especially in young patients with no other risk factors. Early diagnosis and appropriate management are fundamental before the occurrence of life-threatening complications that can sometimes present in unusual forms associating arterial and venous thrombotic events.
Understanding quality of analytics trade-offs in an end-to-end machine learning-based classification system for building information modeling
Authors: Ryu Minjung , Truong Hong-Linh , Kannala Matti
Published: February 2021

Optimizing quality trade-offs in an end-to-end big data science process is challenging, as not only do we need to deal with different types of software components, but also the domain knowledge has to be incorporated along the process. This paper focuses on methods for tackling quality trade-offs in a common data science process for classifying Building Information Modeling (BIM) elements, an important task in the architecture, engineering, and construction industry. Due to the diversity and richness of building elements, machine learning (ML) techniques have been increasingly investigated for classification tasks. However, ML-based classification faces many issues, w.r.t. vast amount of data with heterogeneous data quality, diverse underlying computing configurations, and complex integration with industrial BIM tools, in an end-to-end BIM data analysis. In this paper, we develop an end-to-end ML classification system in which quality of analytics is considered as the first-class feature across different phases, from data collection, feature processing, training to ML model serving. We present our method for studying the quality of analytics trade-offs and carry out experiments with BIM data extracted from Solibri to demonstrate the automation of several tasks in the end-to-end ML classification. Our results have demonstrated that the quality of data, data extraction techniques, and computing configurations must be carefully designed when applying ML classifications for BIM in order to balance constraints of time, cost, and prediction accuracy. Our quality of analytics methods presents generic steps and considerations for dealing with such designs, given the time, cost, and accuracy trade-offs required in specific contexts. Thus, the methods could be applied to the design of end-to-end BIM classification systems using other ML techniques and cloud services.
Statistical analysis of ionospheric total electron content (TEC): long-term estimation of extreme TEC in Japan
Authors: Nishioka Michi , Saito Susumu , Tao Chihiro , Shiota Daikou , Tsugawa Takuya , Ishii Mamoru
Published: February 2021

Ionospheric total electron content (TEC) is one of the key parameters for users of radio-based systems, such as the Global Navigation Satellite System, high-frequency communication systems, and space-based remote sensing systems, since total ionospheric delay is proportional to TEC through the propagation path. It is important to know extreme TEC values in readiness for hazardous ionospheric conditions. The purpose of this study is to estimate extreme TEC values with occurrences of once per year, 10 years, and hundred years in Japan. In order to estimate the extreme values of TEC, a cumulative distribution function of daily TEC is derived using 22 years of TEC data from 1997 to 2018. The extreme values corresponding to once per year and 10 years are 90 and 110 TECU, respectively, in Tokyo, Japan. On the other hand, the 22-year data set is not sufficient to estimate the once-per-100-year value. Thus, we use the 62-year data set of manually scaled ionosonde data for the critical frequency of the F-layer (foF2) at Kokubunji in Tokyo. First, we study the relationship between TEC and foF2 for 22 years and investigate the slab thickness. Then the result is applied to the statistical distribution of foF2 data for 62 years. In this study, two methods are applied to estimate the extreme TEC value. In the first method, the distribution of slab thickness is artificially inflated to estimate extreme TEC values. In the second method, extreme slab thicknesses are applied to estimate extreme TEC values. The result shows that the once-per-100-year TEC is about 150–190 TECU at Tokyo. The value is also estimated to be 180–230 TECU in Kagoshima and 120–150 TECU in Hokkaido, in the southern and northern parts of Japan, respectively.
Exo70 intracellular redistribution after repeated mild traumatic brain injury
Authors: Lira Matías , Zamorano Pedro , Cerpa Waldo
Published: February 2021

Background

Exo70 is a subunit of the greater exocyst complex, a collection of proteins that oversees cellular membrane addition and polarized exocytosis by acting as a tethering intermediate between the plasma membrane and newly synthesized secretory vesicles. Although Exo70 function has been implicated in several developmental events including cytokinesis and the establishment of cell polarity, its role in neuropathologies is poorly understood. On the other hand, traumatic brain injury is the result of mechanical external force including contusion, fast acceleration, and expansive waves that produce temporal or permanent cognitive damage and triggers physical and psychosocial alterations including headache, memory problems, attention deficits, difficulty thinking, mood swings, and frustration. Traumatic brain injury is a critical health problem on a global scale, constituting a major cause of deaths and disability among young adults. Trauma-related cellular damage includes redistribution of N-methyl-D-aspartate receptors outside of the synaptic compartment triggering detrimental effects to neurons. The exocyst has been related to glutamate receptor constitutive trafficking/delivery towards synapse as well. This work examines whether the exocyst complex subunit Exo70 participates in traumatic brain injury and if it is redistributed among subcellular compartments

Results

Our analysis shows that Exo70 expression is not altered upon injury induction. By using subcellular fractionation, we determined that Exo70 is redistributed from microsomes fraction into the synaptic compartment after brain trauma. In the synaptic compartment, we also show that the exocyst complex assembly and its interaction with GluN2B are increased. Finally, we show that the Exo70 pool that is redistributed comes from the plasma membrane.

Conclusions

The present findings position Exo70 in the group of proteins that could modulate GluN2B synaptic availability in acute neuropathology like a traumatic brain injury. By acting as a nucleator factor, Exo70 is capable of redirecting the ensembled complex into the synapse. We suggest that this redistribution is part of a compensatory mechanism by which Exo70 is able to maintain GluN2B partially on synapses. Hence, reducing the detrimental effects associated with TBI pathophysiology.
Influence of Quaternary environmental changes on mole populations inferred from mitochondrial sequences and evolutionary rate estimation
Authors: Nakamoto Azusa , Harada Masashi , Mitsuhashi Reiko , Tsuchiya Kimiyuki , Kryukov Alexey P. , Shinohara Akio , Suzuki Hitoshi
Published: February 2021

Quaternary environmental changes fundamentally influenced the genetic diversity of temperate-zone terrestrial animals, including those in the Japanese Archipelago. The genetic diversity of present-day populations is taxon- and region-specific, but its determinants are poorly understood. Here, we analyzed cytochrome b gene (Cytb) sequences (1140 bp) of mitochondrial DNA (mtDNA) to elucidate the factors determining the genetic variation in three species of large moles: Mogera imaizumii and Mogera wogura, which occur in central and southern mainland Japan (Honshu, Shikoku, and Kyushu), and Mogera robusta, which occurs on the nearby Asian continent. Network construction with the Cytb sequences revealed 10 star-shaped clusters with apparent geographic affinity. Mismatch distribution analysis showed that modes of pairwise nucleotide differences (τ values) were grouped into five classes in terms of the level, implying the occurrence of five stages for rapid expansion. It is conceivable that severe cold periods and subsequent warm periods during the late Quaternary were responsible for the population expansion events. The first and third oldest events included island-derived haplotypes, indicative of the involvement of land bridge formation between remote islands, hence suggesting an association of the ends of the penultimate (PGM, ca. 130,000 years ago) and last (LGM, ca. 15,000 years ago) glacial maxima, respectively. Since the third event was followed by the fourth, it is plausible that the termination of the Younger Dryas and subsequent abrupt warming ca. 11,500 years ago facilitated the fourth expansion event. The second event most likely corresponded to early marine isotope stage (MIS) 3 (ca. 53,000 years ago) when the glaciation and subsequent warming period were predicted to have influenced biodiversity. Utilization of the critical times of 130,000, 53,000, 15,000, and 11,500 years ago as calibration points yielded evolutionary rates of 0.03, 0.045, 0.10 and 0.10 substitutions/site/million years, respectively, showing a time-dependent manner whose pattern was similar to that seen in small rodents reported in our previous studies. The age of the fifth expansion event was calculated to be 5800 years ago with a rate of 0.10 substitutions/site/million years ago during the mid-Holocene, suggestive of the influence of humans or other unspecified reasons, such as the Jomon marine transgression.
Developmental fates of shark head cavities reveal mesodermal contributions to tendon progenitor cells in extraocular muscles
Authors: Kuroda Shunya , Adachi Noritaka , Kusakabe Rie , Kuratani Shigeru
Published: February 2021

Vertebrate extraocular muscles (EOMs) function in eye movements. The EOMs of modern jawed vertebrates consist primarily of four recti and two oblique muscles innervated by three cranial nerves. The developmental mechanisms underlying the establishment of this complex and the evolutionarily conserved pattern of EOMs are unknown. Chondrichthyan early embryos develop three pairs of overt epithelial coeloms called head cavities (HCs) in the head mesoderm, and each HC is believed to differentiate into a discrete subset of EOMs. However, no direct evidence of these cell fates has been provided due to the technical difficulty of lineage tracing experiments in chondrichthyans. Here, we set up an in ovo manipulation system for embryos of the cloudy catshark Scyliorhinus torazame and labeled the epithelial cells of each HC with lipophilic fluorescent dyes. This experimental system allowed us to trace the cell lineage of EOMs with the highest degree of detail and reproducibility to date. We confirmed that the HCs are indeed primordia of EOMs but showed that the morphological pattern of shark EOMs is not solely dependent on the early pattern of the head mesoderm, which transiently appears as tripartite HCs along the simple anteroposterior axis. Moreover, we found that one of the HCs gives rise to tendon progenitor cells of the EOMs, which is an exceptional condition in our previous understanding of head muscles; the tendons associated with head muscles have generally been supposed to be derived from cranial neural crest (CNC) cells, another source of vertebrate head mesenchyme. Based on interspecies comparisons, the developmental environment is suggested to be significantly different between the two ends of the rectus muscles, and this difference is suggested to be evolutionarily conserved in jawed vertebrates. We propose that the mesenchymal interface (head mesoderm vs CNC) in the environment of developing EOM is required to determine the processes of the proximodistal axis of rectus components of EOMs.
Simultaneous injection‐aspiration technique of air/fluid exchange for in‐office treatment of post‐operative vitreous cavity hemorrhage
Authors: Sanders Riley N. , Uwaydat Sami H.
Published: February 2021

Background

Post-operative vitreous cavity hemorrhage following pars plana vitrectomy is common. In-office drainage of the hemorrhage may be an option for some patients.

Technique

A new method for office-based air fluid exchange is described. A 30-gauge needle with a 10-mm syringe filled with sterile air is inserted 3.5-mm posterior to the limbus in the superotemporal quadrant. A second 30-gauge needle is inserted 3.5 mm from the limbus at 6 o’clock and connected to an empty 10-mm syringe with intravenous catheter tubing. The plunger of the air-filled syringe is pushed while the plunger of the empty syringe is pulled, so that the rate of fluid aspiration matches the rate of air injection.

Discussion

The method approximates conditions in pars plana vitrectomy, with balanced infusion and aspiration. Displaced vitreous cavity contents are collected in the aspiration syringe. The procedure is also cost effective.

Conclusion

The simultaneous syringe method is an easy, safe, and effective way of clearing post-operative vitreous cavity hemorrhage.
Multimodal imaging for paracentral acute maculopathy; the diagnostic role of en face OCT
Authors: Riazi-Esfahani Hamid , Khalili Pour Elias , Fadakar Kaveh , Ebrahimiadib Nazanin , Ghassemi Fariba , Nourinia Ramin , Khojasteh Hassan , Attarian Behnoosh , Faghihi Hooshang , Ahmadieh Hamid
Published: February 2021

Background

To describe the features of multimodal imaging and the diagnostic role of en face OCT in the paracentral acute middle maculopathy (PAMM) spectrum.

Methods

In this observational case series, 5 eyes of 5 patients with acute PAMM were identified. Demographic characteristics as well as data regarding the underlying disease, presenting visual acuity (VA) and ophthalmic examination results were recorded. All patients underwent multimodal imaging within 3 days after symptom onset.

Results

The mean age of patients was 52.2 (range, 33–67) years. Systemic comorbidities including diabetes mellitus and hypertension were identified in two patients. Except for one patient diagnosed with isolated PAMM, other patients had signs of retinal vascular disease such as a cilioretinal artery or branch retinal artery obstruction, non-ischemic central retinal vein occlusion, or a combination of these vascular disorders. The central vision was preserved in two cases; however, the remaining cases presented with profound VA reduction. Different patterns of PAMM including arterial, globular, and fern-like were observed in en face OCT at deep capillary plexus (DCP) level. En face OCT images could precisely delineate the margin of the PAMM area. Optical coherence tomography angiography (OCTA) showed decreased vascular density in DCP. Unresolved projection artifact by conventional OCTA software was observed in DCP and choriocapillaris slabs in all cases.

Conclusion

En face structural OCT in PAMM can delineate the area of ischemia and the degree of foveal involvement. Unresolved projection artifact by conventional OCTA software in the PAMM area can be seen in DCP and choriocapillaris layers.
Comparison of knowledge, attitude, socioeconomic burden, and mental health disorders of COVID-19 pandemic between general population and health care workers in Egypt
Authors: Ahmed Gellan K. , Ramadan Haidi Karam-Allah , Refay Samah Mohammed , Khashbah Mohamed A.
Published: February 2021

Introduction

The global devastating effect of COVID-19 has caused anxiety and fear to variable extent among the public. We aimed to evaluate the knowledge, attitude, socioeconomic burden, and the mental health problems regarding anxiety, depression, and obsessive-compulsive disorder during COVID-19 on the general population and HCWs in Egypt.

Methods

This study was conducted using a semi-structured online questionnaire in May 2020. Data on demographic features, socioeconomic scale, knowledge, and attitude regarding COVID-19 and the effect on different aspects of life were collected. Assessment was done using Arabic versions of Beck’s Anxiety Inventory, Beck’s Depression Inventory–II, and Yale-Brown Obsessive-Compulsive Scale. We divided participants into non-health care workers (non-HCWs) and HCWs groups.

Results

There were 524 participants who responded to the survey from 23 governorates. More than half of the participants were females (57.4%), middle age (53%), and middle socioeconomic class (66.6%). Non-HCWs were 402 and HCWs were 122. Most participants had good knowledge about the disease and a positive attitude toward protective measures particularly in HCWs. COVID-19 showed negative impact on different aspects of participants’ life. HCWs had higher frequency of anxiety (32%) and OCD (29%) than non-HCWs (30% and 28%, respectively) while non-HCWs had higher depression (69%) than HCWs (66.4%). HCWs had higher rates of severe depression (20.5%) with moderate and severe OCD (4.9%, 1.6% respectively) than non-HCWs. Female gender, young age, urban residence, students, smoking, history of medical illness, and low socioeconomic class were significant associated factors.

Conclusions

Health care workers had good knowledge about COVID-19 and a positive attitude toward the protective measures relative to non-HCWs. COVID-19 had a negative impact on different aspects of life and had a major association with the anxiety, depression, and OCD in both groups. Health professionals are more likely to have these psychological consequences.
Prevalence of antinuclear antibody in patients with multiple sclerosis: a case-control study
Authors: Alnajashi Hind , Alshamrani Foziah
Published: February 2021

Background

Antinuclear antibody (ANA) is a common test for excluding alternative diagnoses. However, the significance of ANA testing in patients with multiple sclerosis (MS) remains unclear.

Objectives

To compare the prevalence of positive ANA antibody and its titer between patients with MS (cases) and non-MS patients who attended neurology clinics (control) in Saudi Arabia.

Methods

A case-control review of ANA results for all patients who attended a neurology MS clinic. We compared a convenience sample of patients with MS with individuals with general neurology problems and no known autoimmune diseases.

Results

There were 115 and 103 participants in the MS and control group, respectively. The mean age in the MS and control group was 33.76 ± 8.96 years and 34.95 ± 8.56 years, respectively. In the MS group, 25.22%, 60%, 11.30%, and 3.48% were negative, mildly positive, moderately positive, and strongly positive for ANA, respectively. In the control group, there were 34.95%, 54.37%, and 10.68% were negative, mild positive, and moderate positive, respectively. There were numerically, but not significantly, more positive cases in the MS group (74.78%) than in the control group (65.05%) (p = .117).

Conclusion

ANA testing in routine MS screening for excluding alternative diagnoses should be discouraged unless there is a remarkable history or clinical examination finding. Mild positive ANA is common among patients with MS and does not significantly differ from the general population.
Concurrent bronchopulmonary foregut malformations: a rare case of right-sided extralobar pulmonary sequestration and bronchogenic cyst
Authors: Hanna Carolyn , Sharma Priya G. , Mustafa Moiz M. , Reppucci Jennifer , Shenoy Archana , Rajderkar Dhanashree
Published: February 2021

Background

Bronchopulmonary foregut malformations are rare congenital malformations. It is extremely rare to have malformations that occur simultaneously. There is literature to show that extralobar sequestration is associated with other congenital anomalies, most commonly diaphragmatic hernias, and also with other bronchopulmonary foregut malformations (e.g., extralobar sequestration and congenital pulmonary airway malformations). However, very few case reports were found that reported extralobar sequestration and foregut duplication cysts and only one report of a right-sided complex foregut malformation with pulmonary sequestration.

Case presentation

We present a case of a 3-month-old male infant with a prenatal diagnosis of a cystic lung lesion who, after developing symptoms of respiratory distress, was found to have concurrent right-sided extralobar pulmonary sequestration and a mediastinal bronchogenic cyst.

Conclusions

The concurrent occurrence of these malformations in one patient could help support the theory that these malformations result from an early error in development during the time when both the lung buds and foregut are developing simultaneously.
Inverted aortic bioprosthetic for mitral valve replacement with Ross procedure: case report
Authors: McPherson Iain , Bayliss Christopher , Generali Tommaso , Booth Karen , Hasan Asif
Published: February 2021

Background

A 34-year-old gentleman presented with Staphylococcus salivarius infective endocarditis 13 years after aortic homograft and mitral valve repair for degenerative bicuspid aortic valve associated with rheumatic heart disease. The homograft had calcified, and the mitral repair had deteriorated with severe regurgitation. Multidisciplinary team decision to restore best quality of life was for re-do Ross procedure with bi-leaflet preserving mitral valve replacement with an inverted RESILIA aortic valve as the patient was fundamentally against lifelong anti-coagulation.

Case presentation

The aortic homograft was excised, and coronary arteries dissected out followed by harvesting of the pulmonary autograft. The mitral valve was accessed via a trans-septal approach. On examination, there was a restricted and thickened posterior mitral valve leaflet. An inverted 27-mm INSPIRIS RESILIA aortic bio-prosthesis was placed with mitral cusps preserved. The pulmonary autograft was implanted in an intra-annular position, and a 26-mm pulmonary homograft was used to replace the pulmonary valve. Echocardiogram at 4 weeks revealed preserved LV function and well-functioning prosthetic, autograft and homograft.

Conclusion

An inverted RESILIA valve, with its anti-structural valve deterioration properties, can be used in the mitral position with preservation of the mitral cusps to avoid anti-coagulation with the hope of reducing need for re-operation in line with patient wishes.
Correlation between left ventricular diastolic dysfunction and dyslipidaemia in asymptomatic patients with new-onset type 2 diabetes mellitus
Authors: Hassan Ayman K. M. , Abdallah Mahmoud A. , Abdel-Mageed Eman A. , Marwa Sayed , Soliman Mona M. , Kishk Yehia T.
Published: February 2021

Background

Poor glycaemic control is associated with a greater risk of development of heart failure in diabetic patients. We aimed to study the prevalence of left ventricular (LV) systolic and diastolic dysfunction in asymptomatic patients with new-onset type 2 DM. We conducted a cross-sectional study including patients with newly diagnosed (within 1 year) type 2 DM; all patients were between the ages of 30 and 60 years, normotensive and clinically asymptomatic and attended the outpatient clinic of the endocrinology unit at a university hospital between March 2016 and June 2017. Demographic characteristics, clinical risk factors and waist-hip ratio (WHR) were assessed. Blood samples for laboratory analysis were obtained. Detailed echocardiography was performed to evaluate systolic and diastolic function.

Results

A total of 100 patients were included. Sixty-one percent had diastolic dysfunction with preserved ejection fraction. Left ventricular diastolic dysfunction (LVDD) was more prevalent in diabetic patients with HbA1c ≥ 8.1 (75%) Patients with LVDD had significant dyslipidaemia in comparison to those without LVDD. Multivariate logistic regression analysis showed that WHR and HbA1c levels are the only predictors of impaired diastolic function in patients with new-onset DM. Kaplan-Meier survival curves showed a significant correlation between the incidence of diastolic dysfunction and the duration of DM, with higher incidence with HbA1c ≥ 8.1.

Conclusions

Diastolic dysfunction is highly prevalent in patients with newly diagnosed DM and is positively correlated with HbA1c level, obesity, dyslipidaemia and the duration of diabetes.
Diet and Nutrition Advice After a Solid Tumor Diagnosis
Authors: Mullee Amy , O’Donoghue Aidan , Dhuibhir Pauline Uí , O’Donoghue Niamh , Burke Deirdre , McSharry Veronica , Stewart Gillian , Casey Louise , Donnelly Yvonne , Gallagher Julie , Higgins Kiera , Roulston Fiona , Barrett Michelle , Corish Clare A. , Walsh Declan
Published: February 2021

PURPOSE:

Credible evidence-based diet and nutrition advice is essential for patients with cancer. This study aimed to explore what advice patients with cancer obtained before a formal dietetic visit.

METHODS:

A multicenter, observational study was conducted in seven hospital-based oncology services. Consecutive patients were recruited at first dietetic assessment. In addition to routine dietetic assessment, participants completed a four-item questionnaire describing diet and nutrition advice obtained since diagnosis.

RESULTS:

Seventy-seven patients participated. More than 80% had multiple nutrition-impact symptoms. In total, 53 (69%) obtained advice from professional and nonprofessional sources before dietetic visit. Family and friends were the most common sources of advice. More than one third got advice from (nondietetic) healthcare professionals. Most advice related to “foods to include” (61%) and “foods to avoid” (54%) in the diet. Many of the “foods to avoid” were important sources of micro- and macronutrients. Advice about dietary supplements (31%) and specific diets (28%) was common, rarely evidence-based, and frequently contradictory. Participants found it difficult to discern what advice was trustworthy and reliable. Despite this, most followed the advice.

CONCLUSION:

The majority of patients received diet and nutrition advice before first dietetic visit. Most of this came from nonprofessional sources. Any advice from nondietetic healthcare professionals was inconsistent or vague. This was mainly related to the avoidance and/or inclusion of particular foods and was often contradictory. Nevertheless, patients usually followed such advice fully. To help manage their frequent nutrition-impact symptoms and resolve the contradictory advice they had received, many expressed the need for earlier professional dietetic consultation.