bluuebunny/crossref_metadata_2025 huggingface dataset:
Interstitial lung abnormalities are associated with decreased mean telomere length
Authors: Putman Rachel K. , Axelsson Gisli Thor , Ash Samuel Y. , Sanders Jason L. , Menon Aravind A. , Araki Tetsuro , Nishino Mizuki , Yanagawa Masahiro , Gudmundsson Elías F. , Qiao Dandi , San José Estépar Raúl , Dupuis Josée , O'Connor George T. , Rosas Ivan O. , Washko George R. , El-Chemaly Souheil , Raby Benjamin A. , Gudnason Vilmundur , DeMeo Dawn L. , Silverman Edwin K. , Hatabu Hiroto , De Vivo Immaculata , Cho Michael H. , Gudmundsson Gunnar , Hunninghake Gary M.
Published: February 2022

Background

Interstitial lung abnormalities (ILA) share many features with idiopathic pulmonary fibrosis; however, it is not known if ILA are associated with decreased mean telomere length (MTL).

Methods

Telomere length was measured with quantitative PCR in the Genetic Epidemiology of Chronic Obstructive Pulmonary Disease (COPDGene) and Age Gene/Environment Susceptibility Reykjavik (AGES-Reykjavik) cohorts and Southern blot analysis was used in the Framingham Heart Study (FHS). Logistic and linear regression were used to assess the association between ILA and MTL; Cox proportional hazards models were used to assess the association between MTL and mortality.

Results

In all three cohorts, ILA were associated with decreased MTL. In the COPDGene and AGES-Reykjavik cohorts, after adjustment there was greater than twofold increase in the odds of ILA when comparing the shortest quartile of telomere length to the longest quartile (OR 2.2, 95% CI 1.5–3.4, p=0.0001, and OR 2.6, 95% CI 1.4–4.9, p=0.003, respectively). In the FHS, those with ILA had shorter telomeres than those without ILA (−767 bp, 95% CI 76–1584 bp, p=0.03). Although decreased MTL was associated with chronic obstructive pulmonary disease (OR 1.3, 95% CI 1.1–1.6, p=0.01) in COPDGene, the effect estimate was less than that noted with ILA. There was no consistent association between MTL and risk of death when comparing the shortest quartile of telomere length in COPDGene and AGES-Reykjavik (HR 0.82, 95% CI 0.4–1.7, p=0.6, and HR 1.2, 95% CI 0.6–2.2, p=0.5, respectively).

Conclusion

ILA are associated with decreased MTL.
Vascular remodelling in idiopathic pulmonary fibrosis patients and its detrimental effect on lung physiology: potential role of endothelial-to-mesenchymal transition
Authors: Gaikwad Archana Vijay , Lu Wenying , Dey Surajit , Bhattarai Prem , Chia Collin , Larby Josie , Haug Greg , Myers Stephen , Jaffar Jade , Westall Glen , Singhera Gurpreet Kaur , Hackett Tillie-Louise , Markos James , Eapen Mathew Suji , Sohal Sukhwinder Singh
Published: February 2022

Background

Idiopathic pulmonary fibrosis (IPF) is a progressive, irreversible fibrotic interstitial lung disease. We performed size-based quantitation of pulmonary arterial remodelling in IPF and examined the role of endothelial-to-mesenchymal transition (EndMT) and effects on lung physiology.

Methods

Resected lung tissues from 11 normal controls (NCs), and 13 IPF patients were differentially stained using the Movat Pentachrome technique. Size-based classification for pulmonary arteries was conducted in NC and IPF tissues. For each pulmonary artery, arterial size, luminal diameter, thickness of the intima, media and adventitia, and elastin deposition were quantified using Image ProPlus7.0 software. In addition, immunohistochemical staining was performed for EndMT markers and collagen.

Results

Large and medium-size arterial numbers were significantly reduced in IPF compared to NCs (p<0.0001). Intima thickness was highest in the arterial range of 200–399 μm and 600–1000 μm (p<0.0001), while medial and adventitial thickness was significant across 200–1000 μm (p<0.05) compared to NC. Medial thickness was found to significantly affect the diffusing capacity of the lungs for carbon monoxide (DLCO) (r=−0.8, p=0.01). Total arterial elastin in IPF was higher across all arterial ranges except 100–199 μm in IPF than in NC, with the greatest differences in 200–399 μm (p<0.001) and 600–1000 μm (p<0.001). Total elastin also negatively correlated withDLCO(r’=−0.63, p=0.04) in IPF. An increase in EndMT markers and collagen type I/ IV was observed.

Conclusions

This is the first study demonstrating size-based differences in pulmonary arteries in IPF and its detrimental effect on lung physiology. The process of EndMT might be central to these vascular remodelling changes and could be a potential novel therapeutic target.
The impact of personal and outdoor temperature exposure during cold and warm seasons on lung function and respiratory symptoms in COPD
Authors: Scheerens Charlotte , Nurhussien Lina , Aglan Amro , Synn Andrew J. , Coull Brent A. , Koutrakis Petros , Rice Mary B.
Published: February 2022

Rationale

Chronic obstructive pulmonary disease (COPD) patients often report aggravated symptoms due to heat and cold, but few studies have formally evaluated this.

Methodology

We followed 30 Boston-based former smokers with COPD for four non-consecutive 30-day periods over 12 months. Personal and outdoor temperature exposure were measured using portable and Boston-area outdoor stationary monitors. Participants recorded daily morning lung function measurements as well as any worsening breathing (breathlessness, chest tightness, wheeze) and bronchitis symptoms (cough, sputum colour and amount) compared to baseline. Using linear and generalised linear mixed-effects models, we assessed associations between personal and outdoor temperature exposure (1–3-day moving averages) and lung function and symptoms, adjusting for humidity, smoking pack-years and demographics. We also stratified by warm and cold season.

Results

Participants were on average 71.1±8.4 years old, with 54.4±30.7 pack-years of smoking. Each 5°C increase in personal temperature exposure was associated with 1.85 (95% CI 0.99–3.48) higher odds of worsening breathing symptoms. In the warm season, each 5°C increase in personal and outdoor temperature exposure was associated with 3.20 (95% CI 1.05–9.72) and 2.22 (95% CI 1.41–3.48) higher odds of worsening breathing symptoms, respectively. Each 5°C decrease in outdoor temperature was associated with 1.25 (95% CI 1.04–1.51) higher odds of worsening bronchitis symptoms. There were no associations between temperature and lung function.

Conclusions

Our findings suggest that higher temperature, including outdoor exposure during the warm season and personal temperature exposure year-round, may worsen dyspnoea, while colder outdoor temperature may trigger cough and phlegm symptoms among COPD patients.
ERS International Congress 2021: highlights from the Respiratory Infections Assembly
Authors: Meldrum Oliver W. , Belchamber Kylie B.R. , Chichirelo-Konstantynovych Kiarina D. , Horton Katie L. , Konstantynovych Tetyana V. , Long Merete B. , McDonnell Melissa J. , Perea Lidia , Garcia-Basteiro Alberto L. , Loebinger Michael R. , Duarte Raquel , Keir Holly R.
Published: February 2022

The European Respiratory Society International Congress 2021 took place virtually for the second year running due to the coronavirus pandemic. The Congress programme featured more than 400 sessions and 3000 abstract presentations, covering the entire field of respiratory science and medicine. In this article, early career members of the Respiratory Infections Assembly summarise a selection of sessions across a broad range of topics, including presentations on bronchiectasis, non-tuberculosis mycobacteria, tuberculosis, cystic fibrosis and COVID-19.
Genome-wide identification of MAPK gene family members in Fagopyrum tataricum and their expression during development and stress responses
Authors: Yao Yingjun , Zhao Haixia , Sun Lei , Wu Wenjing , Li Chenglei , Wu Qi
Published: February 2022

Background

Mitogen-activated protein kinases (MAPKs) plays essential roles in the development, hormone regulation and abiotic stress response of plants. Nevertheless, a comprehensive study on MAPK family members has thus far not been performed in Tartary buckwheat.

Results

Here, we identified 16 FtMAPKs in the Fagopyrum tataricum genome. Phylogenetic analysis showed that the FtMAPK family members could be classified into Groups A, B, C and D, in which A, B and C members contain a Thr-Glu-Tyr (TEY) signature motif and Group D members contain a Thr-Asp-Tyr (TDY) signature motif. Promoter cis-acting elements showed that most ProFtMAPks contain light response elements, hormone response elements and abiotic stress response elements, and several ProFtMAPks have MYB-binding sites, which may be involved in the regulation of flavonoid biosynthesis-related enzyme gene expression. Synteny analysis indicated that FtMAPKs have a variety of biological functions. Protein interaction prediction suggested that MAPKs can interact with proteins involved in development and stress resistance. Correlation analysis further confirmed that most of the FtMAPK genes and transcription factors involved in the stress response have the same expression pattern. The transient transformation of FtMAPK1 significantly increased the antioxidant enzymes activity in Tartary buckwheat leaves. In addition, we also found that FtMAPK1 can respond to salt stress by up-regulating the transcription abundance of downstream genes.

Conclusions

A total of 16 MAPKs were identified in Tartary buckwheat, and the members of the MAPK family containing the TDY motif were found to have expanded. The same subfamily members have relatively conserved gene structures and similar protein motifs. Tissue-specific expression indicated that the expression of all FtMAPK genes varied widely in the roots, stems, leaves and flowers. Most FtMAPKs can regulate the expression of other transcription factors and participate in the abiotic stress response. Our findings comprehensively revealed the FtMAPK gene family and laid a theoretical foundation for the functional characterization of FtMAPKs.
Effects of different integrase strand transfer inhibitors on body weight in patients with HIV/AIDS: a network meta-analysis
Authors: Bai Ruojing , Lv Shiyun , Wu Hao , Dai Lili
Published: February 2022

Background

Global antiretroviral therapy has entered a new era. Integrase strand transfer inhibitor (INSTI) has become the first choice in acquired immunodeficiency syndrome (AIDS) treatment. Because INSTI has high antiviral efficacy, rapid virus inhibition, and good tolerance. However, INSTIs may increase the risk of obesity. Each INSTI has its unique impact on weight gain in patients with human immunodeficiency virus (HIV)/AIDS. This study systematically assessed different INSTIs in causing significant weight gain in HIV/AIDS patients by integrating data from relevant literature.

Methods

PubMed, Embase, Cochrane Library, China National Knowledge Infrastructure (CNKI), Chinese Biomedical Literature Database (CBM), China Science and Technology Journal Database (VIP), and Wanfang databases were searched to find studies on the influence of different INSTIs in weight gain. Data on weight change were extracted, and a network meta-analysis was performed.

Results

Eight studies reported weight changes in HIV/AIDS patients were included. Results of the network meta-analysis showed that the weight gain of HIV/AIDS patients treated with Dolutegravir (DTG) was significantly higher than that of Elvitegravir (EVG) [MD = 1.13, (0.18–2.07)]. The consistency test results showed no overall and local inconsistency, and no significant difference in the results of the direct and indirect comparison was detected (p > 0.05). The rank order of probability was DTG (79.2%) > Bictegravir (BIC) (77.9%) > Raltegravir (RAL) (33.2%) > EVG (9.7%), suggesting that DTG may be the INSTI drug that causes the most significant weight gain in HIV/AIDS patients.

Conclusion

According to the data analysis, among the existing INSTIs, DTG may be the drug that causes the most significant weight gain in HIV/AIDS patients, followed by BIC.
Bilateral sequential theta burst stimulation in depressed veterans with service related posttraumatic stress disorder: a feasibility study
Authors: Vaithianathan Thelepa , Blair Mervin , Soares Vanessa , Rybak Yuri E. , Palaniyappan Lena , Richardson J Don , Burhan Amer M.
Published: February 2022

Background

Depression comorbid with posttraumatic stress disorder (PTSD) can be disabling and treatment resistant. Preliminary evidence suggests that repetitive transcranial magnetic stimulation (rTMS), may have a role in helping these patients. There are only few published studies using different rTMS paradigms including bilateral intermittent theta burst (iTBS) and low frequency rTMS.

Methods

In this small cohort observation study, we examined the efficacy of bilateral sequential theta-burst stimulation (bsTBS) in 8 treatment resistant depression (TRD) military veterans with PTSD comorbidity stemming from military service experience.

Results

bsTBS was generally well tolerated and resulted in 25% and 38% remission and response rates on Depression scores respectively; 25% remission and response rate on PTSD scores.

Discussion

This study demonstrates preliminary feasibility and safety of bsTBS in TRD with comorbid military service related PTSD.

We concluded that this paradigm might hold promise as a therapeutic tool to help patients with TRD co-morbid with military service related PTSD. Further adequately powered studies to compare rTMS treatment paradigms in this patient group are warranted.
Nonlinear causal effects of estimated glomerular filtration rate on myocardial infarction risks: Mendelian randomization study
Authors: Park Sehoon , Lee Soojin , Kim Yaerim , Cho Semin , Huh Hyeok , Kim Kwangsoo , Kim Yong Chul , Han Seung Seok , Lee Hajeong , Lee Jung Pyo , Joo Kwon Wook , Lim Chun Soo , Kim Yon Su , Kim Dong Ki
Published: February 2022

Background

Previous observational studies suggested that a reduction in estimated glomerular filtration rate (eGFR) or a supranormal eGFR value was associated with adverse cardiovascular risks. However, a previous Mendelian randomization (MR) study under the linearity assumption reported null causal effects from eGFR on myocardial infarction (MI) risks. Further investigation of the nonlinear causal effect of kidney function assessed by eGFR on the risk of MI by nonlinear MR analysis is warranted.

Methods

In this MR study, genetic instruments for log-eGFR based on serum creatinine were developed from European samples included in the CKDGen genome-wide association study (GWAS) meta-analysis (N=567,460). Alternate instruments for log-eGFR based on cystatin C were developed from a GWAS of European individuals that included the CKDGen and UK Biobank data (N=460,826). Nonlinear MR analysis for the risk of MI was performed using the fractional polynomial method and the piecewise linear method on data from individuals of white British ancestry in the UK Biobank (N=321,024, with 12,205 MI cases).

Results

Nonlinear MR analysis demonstrated a U-shaped (quadratic P value < 0.001) association between MI risk and genetically predicted eGFR (creatinine) values, as MI risk increased as eGFR declined in the low eGFR range and the risk increased as eGFR increased in the high eGFR range. The results were similar even after adjustment for clinical covariates, such as blood pressure, diabetes mellitus, dyslipidemia, or urine microalbumin levels, or when genetically predicted eGFR (cystatin C) was included as the exposure.

Conclusion

Genetically predicted eGFR is significantly associated with the risk of MI with a parabolic shape, suggesting that kidney function impairment, either by reduced or supranormal eGFR, may be causally linked to a higher MI risk.
Adolescent valuation of CARIES-QC-U: a child-centred preference-based measure of dental caries
Authors: Rogers H. J. , Sagabiel J. , Marshman Z. , Rodd H. D. , Rowen D.
Published: February 2022

Objectives

This study develops an adolescent value set for a child-centred dental caries-specific measure of oral health-related quality of life (OHRQoL) based upon CARIES-QC (Caries Impacts and Experiences Questionnaire for Children). This study develops a new approach to valuing child health by eliciting adolescent preferences and anchoring these onto the 1–0 full health-dead QALY (quality adjusted life year) scale using ordinal adult preferences.

Methods

Two online surveys were created to elicit preferences for the CARIES-QC classification system. The first comprised best–worst scaling (BWS) tasks for completion by adolescents aged 11–16 years. The second comprised discrete choice experiment tasks with a duration attribute (DCETTO) for completion by adults aged over 18 years. Preferences were modelled using the conditional logit model. Mapping regressions anchored the adolescent BWS data onto the QALY scale using adult DCETTO values, since the BWS survey data alone cannot generate anchored values.

Results

723 adolescents completed the BWS survey and 626 adults completed the DCETTO survey. The samples were representative of UK adolescent and adult populations. Fully consistent and robust models were produced for both BWS and DCETTO data. BWS preferences were mapped onto DCETTO values, resulting utility estimates for each health state defined by the classification system.

Conclusion

This is the first measure with predetermined scoring based on preferences to be developed specifically for use in child oral health research, and uses a novel technique to generate a value set using adolescent preferences. The estimates can be used to generate QALYs in economic evaluations of interventions to improve children’s oral health.
Comparison of six antibody assays and two combination assays for COVID-19
Authors: Yamamoto Masaki , Okazaki Kazuyuki , Kitai Yoko , Shinohara Koh , Yukawa Satomi , Noguchi Taro , Tanaka Michio , Matsumura Yasufumi , Nishiyama Yukiko , Nagao Miki
Published: February 2022

Introduction

In this work, six SARS-CoV-2-specific antibody assays were evaluated, namely, two pan-immunoglobulin (pan-Ig) assays [Roche Elecsys Anti-SARS-CoV-2 (named "Elecsys" in this study) and the PerkinElmer SuperFlex™ Anti-SARS-CoV-2 Ab Assay (SuperFlex_Ab)], two IgM assays [SuperFlex™ Anti-SARS-CoV-2 IgM Assay (SuperFlex_IgM) and YHLO iFlash-SARS-CoV-2 IgM (iFlash_IgM)], and two IgG assays [SuperFlex™ Anti-SARS-CoV-2 IgG Assay (SuperFlex_IgG) and iFlash-SARS-CoV-2 IgG (iFlash_IgG)]. Combination assays of SuperFlex™ (SuperFlex_any) and iFlash (iFlash_any) were also evaluated.

Methods

A total of 438 residual serum samples from 54 COVID-19 patients in the COVID-19 group and 100 samples from individuals without evidence of SARS-CoV-2 infection in the negative control group were evaluated.

Results

In the early stage of COVID-19 infection, within 14 days of symptom onset, the seropositive rate was lower than that of the late stage 15 days after onset (65.4% vs 99.6%). In the total period, the pan-Ig and IgG assays had higher sensitivity (90.8–95.3%) than the IgM assays (36.5–40.7%). SuperFlex_Ab and SuperFlex_any had higher sensitivity than Elecsys and SuperFlex_IgG (p < 0.05). The specificity of all the assays was 100%, except for SuperFlex_IgM (99.0%). The concordance rate between each assay was higher (96.4–100%) in the late stage than in the early stage (77.4–98.1%).

Conclusion

For the purpose of COVID-19 diagnosis, antibody testing should be performed 15 days after onset. For the purpose of epidemiological surveillance, highly sensitive assays should be used as much as possible, such as SuperFlex_Ab, iFlash_IgG and their combination. IgM assays were not suitable for these purposes.
Functions, mechanisms, and therapeutic implications of METTL14 in human cancer
Authors: Guan Qian , Lin Huiran , Miao Lei , Guo Huiqin , Chen Yongping , Zhuo Zhenjian , He Jing
Published: February 2022

RNA modification plays a crucial role in many biological functions, and its abnormal regulation is associated with the progression of cancer. Among them, N6-methyladenine (m6A) is the most abundant RNA modification. Methyltransferase-like 14 (METTL14) is the central component of the m6A methylated transferase complex, which is involved in the dynamic reversible process of m6A modification. METTL14acts as both an oncogene and tumor suppressor gene to regulate the occurrence and development of various cancers. The abnormal m6A level induced by METTL14 is related to tumorigenesis, proliferation, metastasis, and invasion. To date, the molecular mechanism of METTL14 in various malignant tumors has not been fully studied. In this paper, we systematically summarize the latest research progress on METTL14 as a new biomarker for cancer diagnosis and its biological function in human tumors and discuss its potential clinical application. This study aims to provide new ideas for targeted therapy and improved prognoses in cancer.
Serum CCAT2 as a biomarker for adjuvant diagnosis and prognostic prediction of cervical cancer
Authors: Cao Xiaoli , Yao Juan , Jia Meiqun , Shen Xianjuan , Zhang Jinye , Ju Shaoqing
Published: February 2022

Growing evidence indicates that lncRNA colon cancer-associated transcript 2 (CCAT2) is associated with cancers. However, the clinical value of CCAT2 in cervical cancer (CC) remains unclear. In this study, serum CCAT2 level was detected by real-time quantitative PCR (RT-qPCR). Carbohydrate antigen 125 (CA125) and squamous-cell carcinoma antigen (SCC) were detected by electrochemiluminescence. A receiver operating characteristic (ROC) curve was utilized to estimate the diagnostic efficiency of CCAT2. Kaplan-Meier survival analysis and univariable and multivariable analyses were performed to assess the prognostic value of CCAT2. The relative expression level of CCAT2 in primary CC patients was significantly higher than that in cervical intraepithelial neoplasias (CIN) patients and healthy controls (both P < 0.001). CCAT2 relative expression was positively correlated with tumor Federation of Gynecology and Obstetrics (FIGO) stage, SCC-Ag and lymph node metastasis (LNM) (all P < 0.05). CCAT2 expression in recurrent/metastatic CC was significantly higher compared with primary CC (P < 0.0001) or operated CC (P < 0.0001) and during follow-up, CCAT2 expression was increased before surgery and decreased significantly after surgery (P < 0.0001). Furthermore, the overall survival rate of CC patients with high CCAT2 expression group markedly decreased as compared with that of low CCAT2 expression group (P = 0.026). Univariate analyses indicated that CCAT2 was a poor prognostic factor associated with overall survival (OS). Our study indicates that CCAT2 may be valuable in complementary diagnosis and monitoring of progression and prognosis of CC patients. Combined detection of CCAT2, CA125 and SCC can greatly improve the diagnostic efficiency of primary CC.
Usefulness of rapid molecular tests in pediatric respiratory tract infections
Authors: Nardi Simona , Carolis Lorella , Iannini Roberta , De Sandro Maria Vittoria , Solito Giovanna , Calafatti Matteo , Gizzi Camilla
Published: February 2022

Objective

To evaluate the role and the advantages of nasopharyngeal swabs in the detection of Influenza A and B viruses and Respiratory syncytial virus through a rapid test based upon a nucleic acid amplification reaction in order to avoid improper antibiotics use.

Design

Case-control retrospective study.

Setting

Emergency Room of “Sandro Pertini” General Hospital, Rome, Italy.

Participants

Children (< 14 years old) who consecutively arrived in the Emergency Department (ED) for respiratory tract infections, without obvious signs of bacterial respiratory tract infections and other comorbidities, in the maximal seasonal incidence period of November-to-March of every year between 2016 and 2020.

Methods

Medical records of children included in the study were retrospectively examined. Children were subdivided according to the following intervals: 2016–2017 and 2017–2018 (Group 1), 2018–2019 and 2019–2020 (Group 2). Children in Group 2 undertook a nasopharyngeal swab, while those in Group 1 did not undergo any specific diagnostic test.

Primary outcome

Avoidance of improper antibiotics administration.

Results

A total of 386 children were included in the study: 174 in Group 1, 212 in Group 2. The Odd Ratio (OR) of prescribing an antibiotic in the groups of children not being swabbed compared to those of children undertaking a swab was 9.21 (CI95% 5.6–15.2, p < 0.001). The overall percentage of hospitalizations, both in the short observation unit or in the pediatric unit, did not differ between the two groups.

Conclusions

Nasopharyngeal swabs for the detection of Influenza A and B viruses and Respiratory syncytial virus proved to be a useful means to a correct and timely diagnosis and allowed for a significant reduction in the prescription of antibiotic therapy.

Trial registration

Retrospectively registered.
Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report
Authors: Schierz Ingrid Anne Mandy , Giuffrè Mario , Cimador Marcello , D’Alessandro Maria Michela , Serra Gregorio , Favata Federico , Antona Vincenzo , Piro Ettore , Corsello Giovanni
Published: February 2022

Background

Contiguous gene deletion syndrome at Xp22.3 resulting in nullisomy in males or Turner syndrome patients typically encompasses the steroid sulfatase gene (STS) and contiguously located other genes expanding the phenotype. In large deletions, that encompass also the Kallmann syndrome 1 gene (KAL1), occasionally infantile hypertrophic pyloric stenosis (IHPS) and congenital anomalies of the kidney and urinary tract (CAKUT) have been reported.

Patient presentation

We report on a male newborn with family history in maternal uncle of renal abnormalities and short stature still without ichthyosiform dermatosis. The baby presented CAKUT with kidney failure and progressive vomiting. Renal bicarbonate loss masked hypochloremic and hypokalemic metabolic alkalosis classically present in IHPS and delayed its diagnosis. Antropyloric ultrasound examination and cystourethrography were diagnostic. After Fredet-Ramstedt extramucosal pyloromyotomy feeding and growing was regular and he was discharged home. Comparative whole-genome hybridization detected a maternal inherited interstitial deletion of 1.56 Mb on Xp22.31(6,552,712_8,115,153) × 0 involving the STS gene, but not the KAL1 gene.

Conclusions

Aberrant cholesterol sulfate storage due to STS deletion as the underlying pathomechanism is not limited to oculocutaneous phenotypes but could also lead to co-occurrence of both IHPS and kidney abnormalities, as we report. Thus, although these two latter pathologies have a high incidence in the neonatal age, their simultaneous association in our patient is resembling not a chance but a real correlation expanding the clinical spectrum associated with Xp22.31 deletions.
Incidence of acute respiratory infections in preschool children in an outpatient setting before and during Covid-19 pandemic in Lombardy Region, Italy
Authors: Mameli Chiara , Picca Marina , Buzzetti Roberto , Pace Maria Elisabetta , Badolato Raffaele , Cravidi Claudio , Zuccotti Gian Vincenzo , Marchisio Paola ,   for the Italian Society of Paediatrics Lombardy Section, Sala Marco , Di Cosimo Maria Elisabetta
Published: February 2022

Introduction

The incidence of acute respiratory tract infections (ARTIs) in children is difficult to estimate because they are typically treated in outpatient settings and the majority of epidemiological data originate from hospital settings and refer to the most severe illnesses. Therefore, the incidence of ARTIs in a real-world setting remains largely unexplored. Therefore, this study aims to estimate the incidence of ARTIs, upper respiratory tract infections (URTIs), and lower respiratory tract infections (LRTIs) in children aged 0–5 years in an outpatient setting.

Methods

This prospective cohort study was conducted in Lombardy, Italy, from October 1st, 2019, to March 31st, 2021, before and during the COVID-19 pandemic that began in March 2020. Caucasian healthy children aged 0–5 years were recruited from 69 Family Pediatricians (FP) and followed-up in an outpatient setting. Data were collected whenever a child was referred to FP and ARTI was diagnosed (Covid-19 related ARTI were excluded). The primary outcome was an estimate of the incidence of ARTIs. The incidence of ARTIs in different age groups and the effect of the COVID-19 pandemic on the incidence of ARTIs were secondary outcomes.

Results

We enrolled 484 children, 249 male (51.8%), mean age of 2.39 ± 1.68 years. The mean estimated incidence of ARTIs was 12.1/100 children × 30 days (95% CIs: 9.5–12.9), with the highest value observed in infants aged 1–12 months (24.9/100 children × 30 days; 95% CIs: 17.6–28.9). The mean estimated incidence of URTIs was higher than that of LRTIs (8.3 – CIs: 7.6–8.9 vs 3.8/100 children × 30 days – CIs: 6.4–4.3, respectively). The comparison of ARTIs, which occurred in the pre-pandemic winter, to those measured during the COVID-19 pandemic, revealed an impressive 82.1% drop in the incidence rate (CIs: 77.8–85.7).

Conclusions

This study showed that infants aged 1–12 months are more likely to develop ARTIs than older children and that COVID-19 pandemic has dramatically altered the epidemiology of ARTIs in children aged 0–5 years.
Retrospective longitudinal analysis of the effects of postnatal weight gain on the timing and tempo of puberty and menarche in a cohort of Italian girls
Authors: Ferrari Vittorio , Stefanucci Simona , Ferrari Marta , Ciofi Daniele , Stagi Stefano ,   on the behalf of the Tuscany Menarche Study Group, Milanesi Antonio , Cecchi Rossana , Fiore Rosalba , Pierattelli Monica , Pittari Angela Maria , Chiccoli Antonina , Becherucci Paolo , Cova Anna , Guidotti Tiziana , Balzer Elena , Citino Giovanni Scipione Gaetano , Bagni Paolo , Guarnieri Marzia , Pecchioli Roberto , Ascani Lara , Matteoni Donatella , Beacci Patrizia , Lelli Vanda , Breschi Cecilia , Fantacci Cristina , De Simone Anna , Gabbrielli Manuela
Published: February 2022

Objective

over the last few decades there has been a progressive decline in the average age of onset of pubertal development stages in both sexes. The increase in the prevalence of childhood obesity seems to play an important role in this phenomenon.

Design

we undertook a retrospective, longitudinal evaluation of the average age of thelarche and menarche to evaluate the relationship between BMI and weight change during the first years of life and the timing and tempo of puberty.

Methods

we evaluated data for 577 Italian girls born between 1995 and 2003. We collected the main auxological and clinical parameters, including age at B2 and at menarche, BMI SDS at B2 and menarche, gestational age and birth weight and Z-score change from birth weight (BW) to BMI at B2 and menarche.

Results

the mean age of B2 was 10.06 ± 1.03 years and the mean age of menarche was 12.08 ± 1.02 years. Age at B2 and menarche were inversely correlated with BMI SDS (p < 0.0001). Both age at menarche and at thelarche have an inverse relationship with the Z-score change from birth weight and BMI at menarche and thelarche respectively (p < 0.0001).

Conclusions

our data confirm a significant relationship between BMI and age of B2 and menarche. We observed a clear relationship among weight change during the first years of life, age at thelarche and menarche and the duration of puberty, demonstrating the importance of weight and weight gain in determining the timing and tempo of pubertal changes and growth.
An investigation into the role of inherited CEACAM gene family variants and colorectal cancer risk
Authors: Huskey Anna L. W. , Merner Nancy D.
Published: February 2022

Objective

This study was designed to determine ifCEACAMmutations are associated with inherited risk of colorectal cancer. Recently, protein-truncating mutations in theCEACAMgene family were associated with inherited breast cancer risk. That discovery, along with aberrant expression ofCEACAMgenes in colorectal cancer tumors and that colorectal cancer and breast cancer share many risk factors, including genetics, inspired our team to search for inheritedCEACAMmutations in colorectal cancer cases. Specifically utilizing The Cancer Genome Atlas (TCGA) blood-derived whole-exome sequencing data from the colorectal cancer cohort, rare protein-truncating variants and missense variants were investigated through single variant and aggregation analyses in European American and African American cases and compared to ethnic-matched controls.

Results

A total of 34 and 14 differentCEACAMvariants were identified in European American and African American colorectal cancer cases, respectively. Nine missense variants were individually associated with risk, two in African Americans and seven in European Americans. No identified protein-truncating variants were associated with CRC risk in either ethnicity. Gene family and gene-specific aggregation analyses did not yield any significant results.
The use of dupilumab in severe atopic dermatitis during pregnancy: a case report
Authors: Akhtar Nabeel H. , Khosravi-Hafshejani Touraj , Akhtar Daud , Dhadwal Gurbir , Kanani Amin
Published: February 2022

Background

Atopic dermatitis is a common chronic skin disease that can occur in pregnancy. Current treatments include topical and systemic glucocorticoids and cyclosporine. Presently, the only biologic approved for atopic dermatitis is dupilumab with limited data available regarding its safety profile in pregnancy.

Case presentation

We report a case of severe atopic dermatitis treated safely with dupilumab with no adverse maternal or fetal outcomes and resolution of atopic dermatitis postpartum in the absence of maintenance dupilumab therapy.

Conclusion

Here we demonstrate the safe use of dupilumab in pregnancy. Further research is needed to elucidate the role of dupilumab in the management of atopic dermatitis during pregnancy.
Feasibility study of an intervention program to enhance self-confidence of kindergarten teachers who deal with radiation-related health concerns from parents with young children
Authors: Moriyama Nobuaki , Nakayama Chihiro , Watanabe Kiyotaka , Kuga Tomomi , Yasumura Seiji
Published: February 2022

Background

Following the Fukushima Daiichi Nuclear Power Station accident in March 2011, radiation anxiety was high among residents in affected areas. Enhancing radiation-related health literacy is effective in reducing radiation anxiety. This feasibility study aimed to examine a novel intervention program to enhance the self-confidence of kindergarten teachers who deal with radiation-related health concerns from parents in order to determine the feasibility of conducting a future randomized controlled trial.

Methods

Teachers and administrative staff of two private kindergartens in Fukushima City and members of Media Doctor Japan (a research group for enhancing the quality of health news reporting in Japan) were recruited for study participation. Participants were randomly assigned to intervention and control groups. The intervention group participated in the intervention program, comprised of lectures, group discussions, and presentations. The control group received the same written materials used in the intervention program. The primary outcome of this study was feasibility, assessed via four questions concerning program acceptability and described without quantitative analysis. Secondary outcomes were self-confidence concerning parent consultation (1 question, 4-point Likert scale), radiation-related health knowledge (5 question quiz, 1 point for each correct answer, score: 0–5), and health literacy (assessment developed by Ishilawa, et al., score: 1–5) assessed numerically before and after the intervention. Means and standard deviations of outcomes before and after the intervention and their changes in both groups were reported with groups of participants (kindergartens and the Media Doctor Research Japan) reported separately. No quantitative analyses were performed for secondary outcomes.

Results

Five and six kindergarten workers and seven and seven Media Doctor Japan members participated in the intervention and control groups, respectively. Reported acceptability was generally positive, and only one participant gave a negative response regarding program usefulness. Improved self-confidence was found in kindergarten employee participants. Radiation-related health knowledge was higher after the intervention in both kindergarten teachers and Media Doctor Japan members. The amount of change was higher in the intervention group than in the control group.

Conclusions

The intervention program enhanced self-confidence in kindergarten employees. The feasibility of the intervention program for a larger randomized controlled trial was ascertained. Time to conduct lectures and group discussions should be increased to further enhance health literacy.

Trial registrations

UMIN000042527 [University Hospital Medical Information Network (UMIN) Center] registered on November 25, 2020.
Cue the volatility spillover in the cryptocurrency markets during the COVID-19 pandemic: evidence from DCC-GARCH and wavelet analysis
Authors: Özdemir Onur
Published: February 2022

This study investigates the dynamic mechanism of financial markets on volatility spillovers across eight major cryptocurrency returns, namely Bitcoin, Ethereum, Stellar, Ripple, Tether, Cardano, Litecoin, and Eos from November 17, 2019, to January 25, 2021. The study captures the financial behavior of investors during the COVID-19 pandemic as a result of national lockdowns and slowdown of production. Three different methods, namely, EGARCH, DCC-GARCH, and wavelet, are used to understand whether cryptocurrency markets have been exposed to extreme volatility. While GARCH family models provide information about asset returns at given time scales, wavelets capture that information across different frequencies without losing inputs from the time horizon. The overall results show that three cryptocurrency markets (i.e., Bitcoin, Ethereum, and Litecoin) are highly volatile and mutually dependent over the sample period. This result means that any kind of shock in one market leads investors to act in the same direction in the other market and thus indirectly causes volatility spillovers in those markets. The results also imply that the volatility spillover across cryptocurrency markets was more influential in the second lockdown that started at the beginning of November 2020. Finally, to calculate the financial risk, two methods—namely, value-at-risk (VaR) and conditional value-at-risk (CVaR)—are used, along with two additional stock indices (the Shanghai Composite Index and S&P 500). Regardless of the confidence level investigated, the selected crypto assets, with the exception of the USDT were found to have substantially greater downside risk than SSE and S&P 500.
The autophagy protein BcAtg2 regulates growth, development and pathogenicity in the gray mold fungus Botrytis cinerea
Authors: Liu Na , Lian Sen , Li Baohua , Ren Weichao
Published: February 2022

Autophagy is an intracellular degradation process that facilitates material recycling to maintain cellular homeostasis in eukaryotes. Atg2 is a phospholipid transfer protein involved in cellular autophagy in Saccharomyces cerevisiae. To date, the role of Atg2 in growth, development and pathogenicity of the gray mold fungus Botrytis cinerea remains unknown. In this study, we identified and characterized an Atg2 ortholog, designated as BcAtg2, in B. cinerea. Deletion of BcATG2 resulted in a block of the autophagic process in B. cinerea. The ΔBcAtg2 mutant failed to produce sclerotia, and showed significant reduction in mycelial growth rate, formation of aerial mycelium and conidiation. In addition, the ΔBcAtg2 mutant lost the ability to form infection structures and cause symptom on host plants. All of these phenotypic changes in ΔBcAtg2 mutant were restored by targeted gene complementation. Moreover, BcAtg2 was demonstrated to physically interact with the phosphoinositide binding protein BcAtg18. Taken together, these results indicate that BcAtg2 plays an important role in vegetative growth, development and pathogenicity in B. cinerea.
Precise orbit determination for BDS satellites
Authors: Zhao Qile , Guo Jing , Wang Chen , Lyu Yifei , Xu Xiaolong , Yang Chao , Li Junqiang
Published: February 2022

Since the first pair of BeiDou satellites was deployed in 2000, China has made continuous efforts to establish its own independent BeiDou Navigation Satellite System (BDS) to provide the regional radio determination satellite service as well as regional and global radio navigation satellite services, which rely on the high quality of orbit and clock products. This article summarizes the achievements in the precise orbit determination (POD) of BDS satellites in the past decade with the focus on observation and orbit dynamic models. First, the disclosed metadata of BDS satellites is presented and the contribution to BDS POD is addressed. The complete optical properties of the satellite bus as well as solar panels are derived based on the absorbed parameters as well the material properties. Secondly, the status and tracking capabilities of the L-band data from accessible ground networks are presented, while some low earth orbiter satellites with onboard BDS tracking capability are listed. The topological structure and measurement scheme of BDS Inter-Satellite-Link (ISL) data are described. After highlighting the progress on observation models as well as orbit perturbations for BDS, e.g., phase center corrections, satellite attitude, and solar radiation pressure, different POD strategies used for BDS are summarized. In addition, the urgent requirement for error modeling of the ISL data is emphasized based on the analysis of the observation noises, and the incompatible characteristics of orbit and clock derived with L-band and ISL data are illuminated and discussed. The further researches on the improvement of phase center calibration and orbit dynamic models, the refinement of ISL observation models, and the potential contribution of BDS to the estimation of geodetic parameters based on L-band or ISL data are identified. With this, it is promising that BDS can achieve better performance and provides vital contributions to the geodesy and navigation.
Understanding sperm motility mechanisms and the implication of sperm surface molecules in promoting motility
Authors: Chakraborty Srinjoy , Saha Sudipta
Published: February 2022

Background

It is estimated that approximately 8–12% of couples globally face problems associated with infertility. A large number of men exhibit suboptimal sperm parameters. Sperm motility is one of the factors that is measured when analysing sperm parameters. The indication of several crucial sperm surface molecules, having the ability to modulate motility, has opened new avenues in understanding the complex processes involved in motility.

Main body of the abstract

There are various mechanisms that regulate and enhance sperm motility. Several surface molecules on sperm cells can also regulate motility, thus showing their possible application as a treatment for infertility caused by impaired motility. Sperm motility is regulated by intracellular and extracellular pH, along with calcium ions (Ca2+) and carbonate ion (HCO3−) concentrations. Moreover, sperm cells have an array of surface proteins which play a critical role in their function and motility. The indication of surface molecules presented new opportunities for understanding sperm motility and the possibility of treating infertility caused by impaired sperm function. Infertility and problems associated with conception can cause underlying stress and mental trauma. Although there are several methods for treating infertility, most are complex, invasive, and expensive.

Conclusion

It is important to understand how surface molecules and proteins on the sperm cell regulate motility. This will enable us to treat anomalies associated with proper sperm function. This review highlights the general mechanisms that regulate sperm motility, and it stresses the importance and relevance of sperm surface molecules in regulating sperm motility.
Rise of pediatric robotic surgery in Italy: a multicenter observational retrospective study
Authors: Angotti Rossella , Raffaele Alessandro , Molinaro Francesco , Riccipetitoni Giovanna , Chiesa Pierluigi Lelli , Lisi Gabriele , Mattioli Girolamo , Alberti Daniele , Boroni Giovanni , Mariscoli Francesca , Martino Ascanio , Pelizzo Gloria , Maffi Michela , Messina Mario , Lima Mario
Published: February 2022

Background

The minimally invasive surgery (MIS) in term of robot-assisted surgery changed in a dramatic way the surgical approach either in adults or children. For many specialties (urology, gynecology, general surgery) robotic surgery rapidly became the gold standard for some procedures, while the experience in pediatric population is not wide for some reasons. The aim of this study is to retrospective analyze trends of application of robotic surgery in pediatric patients across the country, focusing on indications, limitations, development, and training acquired by national experience and in comparison to the literature.

Methods

We made a retrospective multicenter study on behalf of Italian Society of Pediatric Surgery. We performed a census among all pediatric surgery units in the country to enroll those performing robotic surgery on children between 2013 and 2019.

Results

We enrolled 7 pediatric surgery referral Centers (Ancona, Bologna, Brescia, Genova, Pavia, Pescara, Siena). A total of 303 patients were included in the study, 164 males (54%) and 139 females (46%). The most commonly performed interventions for each anatomic area were respectively atypical pulmonary resection (38%), pyeloplasty (49%), and fundoplication (30%).

Conclusions

Since its first application in Italy, about 10 years ago, several considerations were made about application and feasibility of robotics in children.
People’s experiences of distress and psychosocial care following a terrorist attack: interviews with survivors of the Manchester Arena bombing in 2017
Authors: Stancombe John , Williams Richard , Drury John , Collins Hannah , Lagan Lizzie , Barrett Alan , French Paul , Chitsabesan Prathiba
Published: February 2022

Background

Distress after major incidents is widespread among survivors. The great majority do not meet the criteria for mental health disorders and rely on psychosocial care provided by their informal networks and official response services. There is a need to better understand their experiences of distress and psychosocial care needs.

Aims

The aims of our study were to enhance understanding of the experience of distress among people present at the Manchester Arena bombing in 2017, identify their experiences of psychosocial care after the incident and learn how to better deliver and target effective psychosocial care following major incidents.

Method

We conducted a thematic analysis of semi-structured interviews with 18 physically non-injured survivors of the Manchester Arena attack, who registered with the NHS Manchester Resilience Hub.

Results

Distress was ubiquitous, with long-lasting health and social consequences. Initial reluctance to seek help from services was also common. Early and open access to authoritative sources of information and emotional support, and organised events for survivors, were viewed as helpful interventions. Inappropriate forms of psychosocial and mental healthcare were common and potent stressors that affected coping and recovery.

Conclusions

This paper extends our understanding of how people react to major events. Provision for the large group of people who are distressed and require psychosocial care may be inadequate after many incidents. There is a substantial agenda for developing awareness of people's needs for psychosocial interventions, and training practitioners to deliver them. The findings have substantial implications for policy and service design.