bluuebunny/crossref_metadata_2025 huggingface dataset:
Association Between Provider-Patient Racial Concordance and the Maternal Health Experience During Pregnancy
Authors: Okpa Adaora , Buxton Miatta , O’Neill Marie
Published: February 2022

The main objectives of this study were to collect data on the patient-provider relationship and evaluate the association between patient-provider racial concordance and patient experience during pregnancy. This area of study is important to analyze given the racial disparities that exist in the current healthcare system within the United States. The survey contained 26 questions and was self-administered using Qualtrics. Facebook was used as the means to recruit study participants in the Columbus, Ohio area between January–March 2021. The survey was retrospective, internet-based, anonymous, and completely voluntary and yielded a total of 14 respondents. The close-ended responses were analyzed using Fisher's exact test and the open-ended responses were considered qualitatively. Due to limited sample size, we did not see statistically significant associations between racial concordance and our variables of interest. However, the open-ended comments that we received reveal nuances and concerns in the maternal health field, including the value of support and guidance from other women who have been pregnant, and patients’ increasing comfort with self-advocacy with the provider over time. Participants made suggestions for ways their experiences could be improved. This area of research needs to be further investigated as data connecting patient race with provider race and how that can affect the patient experience are not readily available.
The Effect of Obstetric Drills Training - Jamaica Core Obstetric Teaching and Training in Emergencies (JOTTIE) on Postpartum Haemorrhage at a Jamaican Teaching Hospital
Authors: Maddan Cathy , Forbes Melissa , Campbell-Mitchell Michelle , Rattray Carole , Bryan Lenroy
Published: February 2022

Objective

To evaluate whether the initiation of JOTTIE, a one day simulation training course focussed on the management of common obstetric emergencies, was associated with a reduction in the morbidity and mortality associated with postpartum haemorrhage (PPH) at the University Hospital of the West Indies (UHWI).

Study Design

We conducted a retrospective comparative study that evaluated the incidence of multiple outcomes related to maternal morbidity secondary to PPH, during the two year period immediately prior to the introduction of JOTTIE (pre course arm, N = 88) or the two year period, one year post introduction (post course arm, N = 103) for all women who had vaginal deliveries complicated by PPH at UHWI. A relationship was said to be statistically significant if p < 0.05. Additionally, the study examined risk factors in relation to severity of haemorrhage.

Results

Genital tract trauma represented the highest recorded cause of PPH (approximately 71%). The data revealed that patients in the pre training arm were similarly likely to have no adverse outcome in comparison to patients in the post training arm (p = 0.962). There was also no statistically significant relationship between the time period of patient exposure in relation to the JOTTIE course and severity of PPH (p > 0.05). Uterine fibroids and Crohn’s disease were the only co-morbidities found to increase the likelihood of severe PPH, at 5.154 times (p = 0.019,OR = 5.154, CI = 1.314-20.212) and 17.848 times (p = 0.085,OR = 17.848,CI = 0.672-474.365), respectively.

Conclusions

This study suggests that prior to the introduction of the JOTTIE the rate of maternal morbidity associated with PPH was relatively low at UHWI and there was no significant effect on its management or a significant reduction in maternal morbidity since introduction of the course. Future research on the morbidity related to the other obstetric emergencies addressed at JOTTIE is needed in order to assess the effect of the course as a whole.
COVID-19 and Lockdown: A Study on the Psychosocial Impact on the Mental Health of Women in India
Authors: Shah Sweety , Meghrajani Indra
Published: February 2022

In India, a national lockdown was enforced following the novel COVID-19 pandemic coronavirus. This article addresses social, psychological, and health issues following the lockdown, concentrating on women of all strata in India. A literature search was conducted using Google Scholar. Besides, current guidelines, including those of the World Health Organization and publications from a range of nonacademic outlets (e.g., news website publications), have been accessed. National lockdown programs have resulted in financial losses and mass concern and agony due to factors such as a sense of cornering and loss of control. We interviewed 21 Indian women from different ages and professional backgrounds. The outbreak and lockdown of COVID-19 have several implications for people’s lives, specifically females; stress, fear, frequent griefs, children’s school breaks, and lockdown in India have increased psychological issues and concern for the economic future of their families.
The pyroptosis-related gene signature predicts prognosis and indicates immune activity in hepatocellular carcinoma
Authors: Deng Min , Sun Shiquan , Zhao Rongce , Guan Renguo , Zhang Zhen , Li Shaohua , Wei Wei , Guo Rongping
Published: February 2022

Background

Hepatocellular carcinoma (HCC) remains one of the most common malignant tumors with poor survival. Pyroptosis is a kind of programmed cell death that can regulate the proliferation, invasion, and metastasis of tumor cells. However, the expression levels of pyroptosis-related genes (PRGs) in HCC and their relationship with prognosis are still unclear.

Methods

Our study identified 35 PRGs through bioinformatics analysis that were differentially expressed between tumor samples and nontumor samples. According to these differentially expressed genes, HCC patients could be divided into two groups, cluster 1 and cluster 2. The least absolute shrinkage and selection operator (LASSO) Cox regression method was performed to construct a 10-gene signature that classified HCC patients in the cancer genome atlas (TCGA) database into low-risk and high-risk groups.

Results

The results showed that the survival rate of HCC patients in the low-risk group was significantly higher than that in the high-risk group (p < 0.001). The validation cohort, the Gene Expression Omnibus (GEO) cohort, was divided into two risk groups based on the median risk score calculated by the TCGA cohort. The overall survival (OS) of the low-risk group was significantly better than that of the high-risk group (p = 0.007). Univariate and multivariate Cox regression analyses revealed that the risk score was an independent factor in predicting OS in HCC patients. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes analyses showed that immune-related high-risk groups were rich in genes and had reduced immune status.

Conclusions

PRGs play a significant role in tumor immunity and have the potential capability to predict the prognosis of HCC patients.
RNA m6A Alterations Induced by Biomineralization Nanoparticles: A Proof-of-Concept Study of Epitranscriptomics for Nanotoxicity Evaluation
Authors: Pan Jinbin , Wang Jiaojiao , Fang Kun , Hou Wenjing , Li Bing , Zhao Jie , Ma Xinlong
Published: February 2022

Although various strategies have been included in nanotoxicity evaluation, epitranscriptomics has rarely been integrated into this field. In this proof-of-concept study, N6-methyladenosine (m6A) changes of mRNA in HEK293T cells induced by three bovine serum albumin (BSA)-templated Au, CuS and Gd2O3 nanoparticles are systematically explored, and their possible biological mechanisms are preliminarily investigated. It has been found that all the three BSA-templated nanoparticles can reduce m6A levels, and the genes with reduced m6A are enriched for TGF-beta signaling, which is critical for cell proliferation, differentiation and apoptosis. Further results indicate that abnormal aggregation of m6A-related enzymes at least partly account for the nanoparticle-induced epitranscriptomic changes. These findings demonstrate that epitranscriptomics analysis can provide an unprecedented landscape of the biological effect induced by nanomaterials, which should be involved in the nanotoxicity evaluation to promote the potential clinical translation of nanomaterials.
LiCl treatment leads to long-term restoration of spine maturation and synaptogenesis in adult Tbr1 mutants
Authors: Fazel Darbandi Siavash , Nelson Andrew D. , Pai Emily Ling-lin , Bender Kevin J. , Rubenstein John L. R.
Published: February 2022

Background

Tbr1 encodes a T-box transcription factor and is considered a high confidence autism spectrum disorder (ASD) gene. Tbr1 is expressed in the postmitotic excitatory neurons of the deep neocortical layers 5 and 6. Postnatally and neonatally, Tbr1 conditional mutants (CKOs) have immature dendritic spines and reduced synaptic density. However, an understanding of Tbr1’s function in the adult mouse brain remains elusive.

Methods

We used conditional mutagenesis to interrogate Tbr1’s function in cortical layers 5 and 6 of the adult mouse cortex.

Results

Adult Tbr1 CKO mutants have dendritic spine and synaptic deficits as well as reduced frequency of mEPSCs and mIPSCs. LiCl, a WNT signaling agonist, robustly rescues the dendritic spine maturation, synaptic defects, and excitatory and inhibitory synaptic transmission deficits.

Conclusions

LiCl treatment could be used as a therapeutic approach for some cases of ASD with deficits in synaptic transmission.
Context dependent variation in corticosterone and phenotypic divergence of Rana arvalis populations along an acidification gradient
Authors: Mausbach Jelena , Laurila Anssi , Räsänen Katja
Published: February 2022

Background

Physiological processes, as immediate responses to the environment, are important mechanisms of phenotypic plasticity and can influence evolution at ecological time scales. In stressful environments, physiological stress responses of individuals are initiated and integrated via the release of hormones, such as corticosterone (CORT). In vertebrates, CORT influences energy metabolism and resource allocation to multiple fitness traits (e.g. growth and morphology) and can be an important mediator of rapid adaptation to environmental stress, such as acidification. The moor frog,Rana arvalis,shows adaptive divergence in larval life-histories and predator defense traits along an acidification gradient in Sweden. Here we take a first step to understanding the role of CORT in this adaptive divergence. We conducted a fully factorial laboratory experiment and reared tadpoles from three populations (one acidic, one neutral and one intermediate pH origin) in two pH treatments (Acid versus Neutral pH) from hatching to metamorphosis. We tested how the populations differ in tadpole CORT profiles and how CORT is associated with tadpole life-history and morphological traits.

Results

We found clear differences among the populations in CORT profiles across different developmental stages, but only weak effects of pH treatment on CORT. Tadpoles from the acid origin population had, on average, lower CORT levels than tadpoles from the neutral origin population, and the intermediate pH origin population had intermediate CORT levels. Overall, tadpoles with higher CORT levels developed faster and had shorter and shallower tails, as well as shallower tail muscles.

Conclusions

Our common garden results indicate among population divergence in CORT levels, likely reflecting acidification mediated divergent selection on tadpole physiology, concomitant to selection on larval life-histories and morphology. However, CORT levels were highly environmental context dependent. Jointly these results indicate a potential role for CORT as a mediator of multi-trait divergence along environmental stress gradients in natural populations. At the same time, the population level differences and high context dependency in CORT levels suggest that snapshot assessment of CORT in nature may not be reliable bioindicators of stress.
Chitosan induces differential transcript usage of chitosanase 3 encoding gene (csn3) in the biocontrol fungus Pochonia chlamydosporia 123
Authors: Sambles Christine , Suarez-Fernandez Marta , Lopez-Moya Federico , Lopez-Llorca Luis Vicente , Studholme David J.
Published: February 2022

Background

Pochonia chlamydosporia is an endophytic fungus used for nematode biocontrol that employs its cellular and molecular machinery to degrade the nematode egg-shell. Chitosanases, among other enzymes, are involved in this process. In this study, we improve the genome sequence assembly of P. chlamydosporia 123, by utilizing long Pacific Biosciences (PacBio) sequence reads. Combining this improved genome assembly with previous RNA-seq data revealed alternative isoforms of a chitosanase in the presence of chitosan. This study could open new insights into understanding fungal resistance to chitosan and root-knot nematode (RKN) egg infection processes.

Results

The P. chlamydosporia 123 genome sequence assembly has been updated using long-read PacBio sequencing and now includes 12,810 predicted protein-coding genes. Compared with the previous assembly based on short reads, there are 701 newly annotated genes, and 69 previous genes are now split. Eight of the new genes were differentially expressed in fungus interactions with Meloidogyne javanica eggs or chitosan.

A survey of the RNA-seq data revealed alternative splicing in the csn3 gene that encodes a chitosanase, with four putative splicing variants: csn3_v1, csn3_v2, csn3_v3 and csn3_v4. When P. chlamydosporia is treated with 0.1 mg·mL− 1 chitosan for 4 days, csn3 is expressed 10-fold compared with untreated controls. Furthermore, the relative abundances of each of the four transcripts are different in chitosan treatment compared with controls. In controls, the abundances of each transcript are nil, 32, 55, and 12% for isoforms csn3_v1, csn3_v2, csn3_v3 and csn3_v4 respectively. Conversely, in chitosan-treated P. chlamydosporia, the abundances are respectively 80, 15%, 2—3%, 2—3%. Since isoform csn3_v1 is expressed with chitosan only, the putatively encoded enzyme is probably induced and likely important for chitosan degradation.

Conclusions

Alternative splicing events have been discovered and described in the chitosanase 3 encoding gene from P. chlamydosporia 123. Gene csn3 takes part in RKN parasitism process and chitosan enhances its expression. The isoform csn3_v1 would be related to the degradation of this polymer in bulk form, while other isoforms may be related to the degradation of chitosan in the nematode egg-shell.
Mapping the m1A, m5C, m6A and m7G methylation atlas in zebrafish brain under hypoxic conditions by MeRIP-seq
Authors: Li Wei , Li Xiaoyu , Ma Xunjie , Xiao Wei , Zhang Jingjing
Published: February 2022

Background

The epigenetic modifications play important regulatory roles in tissue development, maintenance of physiological functions and pathological process. RNA methylations, including newly identified m1A, m5C, m6A and m7G, are important epigenetic modifications. However, how these modifications are distributed in the transcriptome of vertebrate brains and whether their abundance is altered under pathological conditions are still poorly understood. In this study, we chose the model animal of zebrafish to conduct a systematic study to investigate the mRNA methylation atlas in the brain.

Results

By performing unbiased analyses of the m1A, m5C, m6A and m7G methylation of mRNA, we found that within the whole brain transcriptome, with the increase of the gene expression levels, the overall level of each of these four modifications on the related genes was also progressively increased. Further bioinformatics analysis indicated that the zebrafish brain has an abundance of m1A modifications. In the hypoxia-treated zebrafish brains, the proportion of m1A is decreased, affecting the RNA splicing and zebrafish endogenous retroviruses.

Conclusions

Our study presents the first comprehensive atlas of m1A, m5C, m6A and m7G in the epitranscriptome of the zebrafish brain and reveals the distribution of these modifications in mRNA under hypoxic conditions. These data provide an invaluable resource for further research on the involvement of m1A, m5C, m6A and m7G in the regulation of miRNA and repeat elements in vertebrates, and provide new thoughts to study the brain hypoxic injury on the aspect of epitranscriptome.
Mycorrhizal symbiosis promotes the nutrient content accumulation and affects the root exudates in maize
Authors: Ma Junqing , Wang Wenqi , Yang Juan , Qin Shengfeng , Yang Yisen , Sun Chenyu , Pei Gen , Zeeshan Muhammad , Liao Honglin , Liu Lu , Huang Jinghua
Published: February 2022

Background

Arbuscular mycorrhizal fungi (AMF) are a group of important symbiotic microorganisms found in ecosystems. Maize is the second most produced food crop globally. To investigate the mechanisms by which mycorrhizal symbiosis improves maize yields, the effects of mycorrhizal symbiosis on root vigor, nutrient accumulation in various tissues, and root exudates were investigated. We propose the following hypothesis: The secretion of organic acids in root exudates has antagonistic or synergistic effects, which are related to the rhizosphere environment. AMF symbiosis will enhance this effect.

Result

Rhizophagus aggreatus,Claroideoglomus etunicatum, andFunneliformis mosseaewere used to inoculate maize plants separately; meanwhile, maize was inoculated with the above three fungi together for another processing. The plant tissues were sampled at five growth stages: V12 (twelve-leaf), VT (Tassel), R1 (Silking), R2 (Blister), and R4 (Dough stage). The root vigor, and nutrient content in different maize organs and organic acids in root exudates were determined in these stages. The results show that mycorrhizal symbiosis significantly improved the root vigor of maize, especially for plants inoculated withF. mosseae. AMF symbiosis significantly increased N, P, and K accumulation. Mixed inoculation with arbuscular mycorrhizal fungi significantly promoted the accumulation of N and K in maize. P accumulation was significantly promoted byC. etunicatuminoculation. Mycorrhizal symbiosis reduced the levels of protocatechuic, vanillic, citric, and ferulic acid in maize root exudates and increased the levels of p-hydroxybenzoic and caffeic acid. Except for syringic, chlorogenic and succinic acid, the levels of other organic acids in root exudates were higher in plants inoculated withF. mosseaethan in other treatments.

Conclusion

This study demonstrates that mycorrhizal symbiosis improves root vigor and promotes nutrient accumulation at various sites; in addition, mycorrhizal symbiosis affects the content of organic acids in root exudates.
Responsiveness of different pain measures and recall periods in people undergoing surgery after a period of splinting for basal thumb joint osteoarthritis
Authors: Pajari Jenni , Jokihaara Jarkko , Waris Eero , Taimela Simo , Järvinen Teppo L. N. , Buchbinder Rachelle , Karjalainen Teemu
Published: February 2022

Background

Basal thumb joint osteoarthritis (OA) is a common painful condition of the hand often treated surgically if non-operative care does not provide sufficient pain relief. Many instruments are available to measure pain for this condition including single item and multidimensional measures. To inform our choice of instrument for the purpose of evaluating the value of surgery for people with thumb OA, the aim of this study was to compare the longitudinal validity and signal to noise ratio of a single item numeric rating scale (NRS) for pain and the Patient-rated Wrist and Hand Evaluation (PRWHE) pain subscale, and to assess if recall period affects longitudinal validity of the NRS pain and reported pain levels.

Methods

We invited 52 patients referred for surgical treatment of basal thumb joint OA to participate in this study. All wore a splint for six weeks followed by surgery. Pain during the past day, week, and month and the PRWHE were collected at baseline, operation day, and 3, 6, 9 and 12 months after surgery. Responsiveness was assessed with two methods: 1) using participant-reported global improvement and PRWHE function subscale as external anchors (longitudinal validity) and 2) comparing Standardized Response Means (SRM).

Results

The Spearman’s ρ between PRWHE pain and participant-reported global improvement was better (0.71) compared with NRS past day (0.55), past week (0.62), or past month (0.59). Similar findings were found with PRWHE function as anchor (Pearson’s r for PRWHE pain 0.78; NRS past day 0.68; past week 0.73; past month 0.69). The SRM of PRWHE pain subscale (2.8) and NRS past week (2.9) outperformed pain past day (2.3) and month (2.4). Mean pain was 0.3 points (on a 0 to 10 scale) worse during past week when compared with past day and 0.3 worse during past month than during past week.

Conclusions

All studied pain measures captured the change in pain over time. For clinical trials, we recommend PRWHE pain subscale or NRS past week due to their better signal noise ratio.

Trial registration

Retrospectively registered.
Coresidence increases the risk of testing positive for COVID-19 among older Brazilians
Authors: Andrade Flavia Cristina Drumond , Quashie Nekehia T. , Schwartzman Luisa Farah
Published: February 2022

Background

Brazil is among the countries hit hardest by COVID-19, and older adults are among the vulnerable groups. Intergenerational coresidence and interdependence among family members, both prevalent in Brazil, likely increase social and physical contact and thus potential infection.

Methods

Using nationally representative data from the COVID-19 module of the Brazilian National Household Sample Survey (Pesquisa Nacional por Amostra de Domicílios), collected between July and November of 2020, we examined the association between living arrangements and exposure to and testing for COVID-19 among 63,816 Brazilians aged 60 years and older. We examine whether living arrangements influence self-reported COVID-19 symptoms as an indicator of subjective health assessment, testing as an indicator of health care service use, and a positive COVID-19 test result as an objective indicator of exposure to the disease.

Results

Living arrangements shape older adults’ vulnerabilities to COVID-19 exposure and testing. Specifically, those living alone were more likely to report having symptoms and having had a test for COVID-19. However, older adults in multigenerational and skipped generation households were more likely than solo-dwellers to test positive for COVID-19. Those with symptoms were more likely to test, regardless of their living arrangement. Among older adults without symptoms, those living alone had a higher probability of testing than those living in multigenerational or skipped-generation households.

Conclusions

Overall, our findings suggest that coresidence with younger family members puts older adults’ health at risk in the context of COVID-19. As younger Brazilians are increasingly vulnerable to COVID-19 and experiencing severe outcomes, policy makers need to be more attentive to the health needs of households that comprise older and younger cohorts, which are also more prevalent in poor and marginalized segments of the population.
Persistent, new-onset symptoms and mental health complaints in Long COVID in a Brazilian cohort of non-hospitalized patients
Authors: Titze-de-Almeida Ricardo , da Cunha Thaylise Ramalho , dos Santos Silva Letícia Dias , Ferreira Clarisse Santos , Silva Caroline Pena , Ribeiro Adriana Pinheiro , de Castro Moreira Santos Júnior Agenor , de Paula Brandão Pedro Renato , Silva Andrezza Paula Brito , da Rocha Márcia Cristina Oliveira , Xavier Mary-Ann Elvina , Titze-de-Almeida Simoneide Souza , Shimizu Helena Eri , Delgado-Rodrigues Raimundo Nonato
Published: February 2022

Background

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections lead to acute- and chronic Long COVID (LC) symptoms. However, few studies have addressed LC sequelae on brain functions. This study was aimed to examine if acute symptoms of coronavirus disease 2019 (COVID-19) would persist during LC, and if memory problems would be correlated with sleep, depressive mood, or anxious complaints.

Methods

Our work followed a cohort of 236 patients from two public hospitals of the Federal District in mid-western Brazil. Patients’ interviews checked for clinical symptoms during acute and LC (5–8 months after real-time reverse transcription polymerase chain reaction, RT-qPCR).

Results

Most cases were non-hospitalized individuals (86.3%) with a median age of 41.2 years. While myalgia (50%), hyposmia (48.3%), and dysgeusia (45.8%) were prevalent symptoms in acute phase, fatigue (21.6%) followed by headache (19.1%) and myalgia (16.1%) commonly occurred during LC. In LC, 39.8% of individuals reported memory complaints, 36.9% felt anxious, 44.9% felt depressed, and 45.8% had sleep problems. Furthermore, memory complaints were associated with sleep problems (adjusted OR 3.206; 95% CI 1.723–6.030) and depressive feelings (adjusted OR 3.981; 95% CI 2.068–7.815).

Conclusions

The SARS-CoV-2 infection leads to persistent symptoms during LC, in which memory problems may be associated with sleep and depressive complaints.
Detection of Clostridioides difficile toxin B gene: benefits of identifying gastrointestinal pathogens by mPCR assay in the diagnosis of diarrhea in pediatric patients
Authors: Byun Jung-Hyun , Yong Dongeun , Kim Heejung
Published: February 2022

Background

In the pediatric population, severe Clostridioides difficile infection (CDI) sometimes occurs, but most cases are asymptomatic. The asymptomatic carriage rate in pediatric populations is reportedly higher than in the adult population. It is difficult to diagnose CDI, even if C. difficile is detected in children with diarrhea. This study aimed to evaluate the positivity rate of toxigenic C. difficile in the pediatric population with diarrhea.

Methods

We collected and retrospectively analyzed gastrointestinal pathogen multiplex PCR results of 960 patients to estimate the positivity rate of toxigenic C. difficile in pediatric populations aged between 0 and 18 years.

Results

The overall rate of C. difficile toxin B positivity was 10.1% in the stool samples. The positivity rate peaked in 1-year-old infants (29/153, 19.0%) and continually decreased thereafter. The positivity rate we observed was lower than the rates described in the literature. Remarkably, no C. difficile was detected in neonates. Antibiotic usage was inversely related to the positivity rate, especially in infants < 2 years of age. The odds ratio of antibiotics was 0.44 (95% confidence interval (CI) 0.28–0.68; P < 0.001). The presence of concomitant gastrointestinal pathogens was not associated with toxigenic C. difficile positivity.

Conclusions

Even though toxigenic C. difficile infection is neither an important nor a common cause of pediatric diarrhea, children can spread it to adults at risk of developing CDI. The pediatric population can act as hidden reservoirs for pathogenic strains in the community.
Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report
Authors: Zhytnik Lidiia , Peters Maire , Tilk Kadi , Reimand Tiia , Ilisson Piret , Kahre Tiina , Murumets Ülle , Ehrenberg Aivar , Ustav Eva-Liina , Tõnisson Neeme , Mölder Signe , Teder Hindrek , Krjutškov Kaarel , Salumets Andres
Published: February 2022

Background

Permanent progression of paternal age and development of reproductive medicine lead to increase in number of children conceived with assisted reproductive techniques (ART). Although it is uncertain if ARTs have direct influence on offspring health, advanced paternal age, associated comorbidities and reduced fertility possess significant risks of genetic disorders to the offspring.

With a broad implementation of a non-invasive prenatal testing (NIPT), more cases of genetic disorders, including sex discordance are revealed. Among biological causes of sex discordance are disorders of sexual development, majority of which are associated with the SRY gene.

Case presentation

We report a case of a non-invasive prenatal testing and ultrasound sex discordance in a 46,XY karyotype female fetus with an SRY pathogenic variant, who was conceived through an intracytoplasmic sperm injection (ICSI) due to severe oligozoospermia of the father.

Advanced mean age of ICSI patients is associated with risk of de novo mutations and monogenic disorders in the offspring. Additionally, ICSI patients have higher risk to harbour infertility-predisposing mutations, including mutations in the SRY gene. These familial and de novo genetic factors predispose ICSI-conceived children to congenital malformations and might negatively affect reproductive health of ICSI-patients’ offspring.

Conclusions

Oligozoospermic patients planning assisted reproduction are warranted to undergo genetic counselling and testing for possible inherited and mosaic mutations, and risk factors for de novo mutations.
Impact of the fear of Covid-19 infection on intent to breastfeed; a cross sectional survey of a perinatal population in Qatar
Authors: Reagu Shuja Mohd , Abuyaqoub Salwa , Babarinsa Isaac , Kader Nisha Abdul , Farrell Thomas , Lindow Stephen , Elhassan Nahid M. , Ouanes Sami , Bawazir Noor , Adnan Anum , Hussain Dina , Boumedjane Malika , Alabdulla Majid
Published: February 2022

Objectives

Infection control measures during the Covid-19 pandemic have focused on limiting physical contact and decontamination by observing cleaning and hygiene rituals. Breastfeeding requires close physical contact and observance of hygienic measures like handwashing. Worries around contamination increase during the perinatal period and can be expressed as increase in obsessive compulsive symptoms. These symptoms have shown to impact breastfeeding rates. This study attempts to explore any relationship between the Covid-19 pandemic and perinatal obsessive–compulsive symptomatology and whether the Covid-19 pandemic has any impact on intent to breastfeed.

Methods

A cross sectional survey of perinatal women attending largest maternity centre in Qatar was carried out during the months of October to December 2020. Socio-demographic information, intent to breastfeed and information around obsessive compulsive thoughts around Covid-19 pandemic were collected using validated tools.

Results

15.7% respondents report intent to not breastfeed. 21.4% respondents reported obsessive–compulsive symptoms. 77.3% respondents believed the biggest source of infection was from others while as only 12% of the respondents believed that the source of infection was through breastfeeding and 15.7% believed the vertical transmission as the main source of risk of transmission.

Conclusions

The rates of Obsessive–compulsive symptoms were increased and the rates of intent to breastfeed were decreased when compared with pre pandemic rates. The obsessive–compulsive symptoms and the intent to not breastfeed were significantly associated with fear of infection to the new-born.

Obsessive–compulsive symptoms were not significantly correlated with intent to breastfeed and can be seen as adaptive strategies utilized by women to continue breastfeeding in the context of fear of infection.
Longitudinal minimal residual disease assessment in multiple myeloma patients in complete remission – results from the NMSG flow-MRD substudy within the EMN02/HO95 MM trial
Authors: Schmitz Alexander , Brøndum Rasmus Froberg , Johnsen Hans Erik , Mellqvist Ulf-Henrik , Waage Anders , Gimsing Peter , op Bruinink Davine Hofste , van der Velden Vincent , van der Holt Bronno , Hansson Markus , Andersen Niels Frost , Frølund Ulf Christian , Helleberg Carsten , Schjesvold Fredrik H. , Ahlberg Lucia , Gulbrandsen Nina , Andreasson Bjorn , Lauri Birgitta , Haukas Einar , Bødker Julie Støve , Roug Anne Stidsholt , Bøgsted Martin , Severinsen Marianne T. , Gregersen Henrik , Abildgaard Niels , Sonneveld Pieter , Dybkær Karen
Published: February 2022

Background

Multiple myeloma remains an incurable disease with multiple relapses due to residual myeloma cells in the bone marrow of patients after therapy. Presence of small number of cancer cells in the body after cancer treatment, called minimal residual disease, has been shown to be prognostic for progression-free and overall survival. However, for multiple myeloma, it is unclear whether patients attaining minimal residual disease negativity may be candidates for treatment discontinuation. We investigated, if longitudinal flow cytometry-based monitoring of minimal residual disease (flow-MRD) may predict disease progression earlier and with higher sensitivity compared to biochemical assessments.

Methods

Patients from the Nordic countries with newly diagnosed multiple myeloma enrolled in the European-Myeloma-Network-02/Hovon-95 (EMN02/HO95) trial and undergoing bone marrow aspiration confirmation of complete response, were eligible for this Nordic Myeloma Study Group (NMSG) substudy. Longitdudinal flow-MRD assessment of bone marrow samples was performed to identify and enumerate residual malignant plasma cells until observed clinical progression.

Results

Minimal residual disease dynamics were compared to biochemically assessed changes in serum free light chain and M-component. Among 20 patients, reaching complete response or stringent complete response during the observation period, and with ≥3 sequential flow-MRD assessments analysed over time, increasing levels of minimal residual disease in the bone marrow were observed in six cases, preceding biochemically assessed disease and clinical progression by 5.5 months and 12.6 months (mean values), respectively. Mean malignant plasma cells doubling time for the six patients was 1.8 months (95% CI, 1.4–2.3 months). Minimal malignant plasma cells detection limit was 4 × 10–5.

Conclusions

Flow-MRD is a sensitive method for longitudinal monitoring of minimal residual disease dynamics in multiple myeloma patients in complete response. Increasing minimal residual disease levels precedes biochemically assessed changes and is an early indicator of subsequent clinical progression.

Trial registration

NCT01208766
Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma development
Authors: Bueno-Martínez E. , Lara-Almunia M. , Rodríguez-Arias C. , Otero-Rodríguez A. , Garfias-Arjona S. , González-Sarmiento R.
Published: February 2022

Background

Glioblastoma is the most aggressive and common malignant primary brain tumor in adults. Many genetic, epigenetic and genomic mutations have been identified in this tumor, but no driving cause has been identified yet for glioblastoma pathogenesis. Autophagy has proved to be deregulated in different diseases such as cancer where it has a dual role, acting as a tumor suppression mechanism during the first steps of tumor development and promoting cancer cells survival in stablished tumors.

Methods

Here, we aimed to assess the potential association between several candidate polymorphisms in autophagy genes (ATG2B rs3759601, ATG16L1 rs2241880, ATG10 rs1864183, ATG5 rs2245214, NOD2 rs2066844 and rs2066845) and glioblastoma susceptibility.

Results

Our results showed a significant correlation between ATG2B rs3759601, ATG10 rs1864183 and NOD2 rs2066844 variants and higher risk to suffer glioblastoma. In addition, the relationship between the different clinical features listed in glioblastoma patients and candidate gene polymorphisms was also investigated, finding that ATG10 rs1864183 might be a promising prognosis factor for this tumor.

Conclusions

This is the first report evaluating the role of different variants in autophagy genes in modulating glioblastoma risk and our results emphasize the importance of autophagy in glioblastoma development.
Ovarian cancer G protein-coupled receptor 1 inhibits A549 cells migration through casein kinase 2α intronless gene and neutral endopeptidase
Authors: Sharma Adhikarimayum Lakhikumar , Meitei Puyam Milan , Machathoibi Takhellambam Chanu , Singh Naorem Tarundas , Singh Thiyam Ramsing , Singh Lisam Shanjukumar
Published: February 2022

Background

We have previously reported that a new intronless gene for casein kinase 2α (CK2α), CSNK2A3, is expressed in human cells. The promoter of the well-known CK2α, CSNK2A1, displays characteristics of a housekeeping gene, whereas CSNK2A3 has a characteristic of a regulated promoter with two TATA boxes and a CAAT box. GPR68, a family of the G protein-coupled receptors, is also known as ovarian cancer G protein-coupled receptor 1 (OGR1). In the current study, we analyzed the roles of CK2α genes and neutral endopeptidase (NEP), a key enzyme that influences a variety of malignancies, in the OGR1-induced inhibition of A549 cell migration.

Methods

We analyzed the transcript expressions of both the CK2α genes (CSNK2A1 and CSNK2A3) and NEP upon OGR1 overexpression. Protein expression of CK2α and NEP were also analyzed. We further elucidated the functional roles of both CK2α and NEP in the OGR1-induced inhibition of A549 cell migration in vitro using a wound-healing assay. We also analyzed the molecular mechanisms involved in the OGR1-induced inhibition of lung cancer cell migration.

Results

The findings of this study showed that OGR1 upregulated the expression of CSNK2A3 but not CSNK2A1 in the A549 cells. The findings further suggested OGR1 also upregulates the expression of NEP. The OGR1-induced inhibition of A549 cell migration was abrogated completely by inhibition of CK2α activity, whereas partial abrogation (~ 30%) was observed in the presence of NEP inhibition. The results also revealed that OGR1 regulates CSNK2A3 via activation of Rac1/cdc42 and MAPKs pathways. CK2 is ubiquitously expressed, and in contrast, is believed to be a constitutively active enzyme, and its regulation appears to be independent of known second messengers.

Conclusion

In the current study, we report for the first time the OGR1-induced regulation of CSNK2A3, CK2αP, and NEP in A549 cancer cells. Our study also decoded the downstream cellular proteins of OGR1 as well as the molecular mechanism involved in OGR1-induced inhibition of A549 cell migration. The findings of this research suggest the potential therapeutic targets to inhibit lung cancer progression.
Towards optimal treatment selection for borderline personality disorder patients (BOOTS): a study protocol for a multicenter randomized clinical trial comparing schema therapy and dialectical behavior therapy
Authors: Wibbelink Carlijn J. M. , Arntz Arnoud , Grasman Raoul P. P. P. , Sinnaeve Roland , Boog Michiel , Bremer Odile M. C. , Dek Eliane C. P. , Alkan Sevinç Göral , James Chrissy , Koppeschaar Annemieke M. , Kramer Linda , Ploegmakers Maria , Schaling Arita , Smits Faye I. , Kamphuis Jan H.
Published: February 2022

Background

Specialized evidence-based treatments have been developed and evaluated for borderline personality disorder (BPD), including Dialectical Behavior Therapy (DBT) and Schema Therapy (ST). Individual differences in treatment response to both ST and DBT have been observed across studies, but the factors driving these differences are largely unknown. Understanding which treatment works best for whom and why remain central issues in psychotherapy research. The aim of the present study is to improve treatment response of DBT and ST for BPD patients by a) identifying patient characteristics that predict (differential) treatment response (i.e., treatment selection) and b) understanding how both treatments lead to change (i.e., mechanisms of change). Moreover, the clinical effectiveness and cost-effectiveness of DBT and ST will be evaluated.

Methods

The BOOTS trial is a multicenter randomized clinical trial conducted in a routine clinical setting in several outpatient clinics in the Netherlands. We aim to recruit 200 participants, to be randomized to DBT or ST. Patients receive a combined program of individual and group sessions for a maximum duration of 25 months. Data are collected at baseline until three-year follow-up. Candidate predictors of (differential) treatment response have been selected based on the literature, a patient representative of the Borderline Foundation of the Netherlands, and semi-structured interviews among 18 expert clinicians. In addition, BPD-treatment-specific (ST: beliefs and schema modes; DBT: emotion regulation and skills use), BPD-treatment-generic (therapeutic environment characterized by genuineness, safety, and equality), and non-specific (attachment and therapeutic alliance) mechanisms of change are assessed. The primary outcome measure is change in BPD manifestations. Secondary outcome measures include functioning, additional self-reported symptoms, and well-being.

Discussion

The current study contributes to the optimization of treatments for BPD patients by extending our knowledge on “Which treatment – DBT or ST – works the best for which BPD patient, and why?”, which is likely to yield important benefits for both BPD patients (e.g., prevention of overtreatment and potential harm of treatments) and society (e.g., increased economic productivity of patients and efficient use of treatments).

Trial registration

Netherlands Trial Register, NL7699, registered 25/04/2019 - retrospectively registered.
Radiation recall pneumonitis triggered by an immune checkpoint inhibitor following re-irradiation in a lung cancer patient: a case report
Authors: Ye Xianghua , Yang Jinsong , Stebbing Justin , Peng Ling
Published: February 2022

Background

Radiation recall pneumonitis (RRP) is unpredictable but associated with severe radiation damage in previously irradiated fields. Chemotherapy and targeted drugs have been reported to contribute to RRP. Here we report a case of a patient with non-small cell lung cancer (NSCLC) who developed RRP following administration of immune checkpoint inhibitor (ICI) 18 months after the end of re-irradiation.

Case presentation

A 69-year-old man received adjuvant chemoradiotherapy post-operatively. He underwent thoracic re-irradiation for oligometastatic NSCLC. On second recurrence, pembrolizumab combined with nab-paclitaxel were administered. After six months, he developed symptoms of persistent cough and dyspnea, with consistent pneumonitis on CT images. The clinical time frame and significant radiographic evidence raised suspicion for RRP. Symptoms resolved after steroids.

Conclusions

RRP is a rare occurrence. Patients undergoing immunotherapy after prior irradiation may be at increased risk of this rare radiation pneumonitis.
The comparison of dexamethasone and triamcinolone periarticular administration in total knee arthroplasty: retrospective cohort study
Authors: Oshima Atsufumi , Hatayama Kazuhisa , Terauchi Masanori , Kakiage Hibiki , Hashimoto Shogo , Chikuda Hirotaka
Published: February 2022

Background

Intraoperative periarticular injection of corticosteroid effectively reduces perioperative pain in total knee arthroplasty (TKA). However, which corticosteroid is most effective for intraoperative periarticular injection remains controversial. We compared the effects of corticosteroids between dexamethasone and triamcinolone acetonide periarticular administration for reducing pain and postoperative nausea and increasing fasting blood glucose concentrations during the perioperative period following TKA.

Methods

One hundred and two patients who underwent TKA from August 2018 to September 2020 were divided into two groups: one received 10 mg dexamethasone for intraoperative periarticular injection and another receiving 40 mg triamcinolone acetonide. Postoperative pain scores at rest and during walking and nausea scores were recorded using a 0-to-10 Numerical Rating Scale. C-reactive protein (CRP) and fasting blood glucose levels were measured pre- and postoperatively.

Results

Pain scores in the triamcinolone group were significantly lower than in the dexamethasone group at rest 7 days postoperatively (1.5 vs. 2.0; p = 0.046) and while walking at both 72 h (3.9 vs. 4.8; p = 0.008) and 7 days postoperatively (3.2 vs. 4.0; p = 0.03). The CRP levels in the triamcinolone group were significantly lower than in the dexamethasone group at 7 days postoperatively (1.6 mg/dl vs. 3.0 mg/dl: p < 0.001). The fasting blood glucose levels at 1 day postoperatively were increased in both groups but not significantly different between the groups. No significant differences in the nausea score were noted between the groups.

Conclusions

Triamcinolone acetonide periarticular administration provided greater pain relief by reducing inflammation to a greater degree than dexamethasone.
Three-dimensional corrective exercise therapy for idiopathic scoliosis: study protocol for a prospective non-randomized trial
Authors: Zhou Xuan , Li Xin , Wu Qikai , Liang Juping , Guo Haibin , Jin Mengdie , Zhu Xiaoqing , Du Qing
Published: February 2022

Background

Although physiotherapeutic scoliosis-specific exercises (PSSEs) with or without other conservative treatments may improve scoliotic deformities, the evidence is insufficient. Three-dimensional corrective exercises (TDCEs) for scoliosis are based on the theory of PSSEs and are characterized by a combination of outpatient treatment and home-based exercise. This study aims to evaluate the effectiveness of TDCEs for idiopathic scoliosis (IS).

Methods

The participants will be divided into two age- and sex-matched groups: an experimental group (EG) treated with three-dimensional corrective exercise therapy (TDCET) and a control group (CG) receiving generalized exercise therapy. In each arm, mild and moderate IS cases will be reclassified based on the Cobb angle and biopsy results. The primary endpoint is the change in the largest Cobb angle; the secondary endpoints are the sagittal index, forced vital capacity, peak oxygen uptake, and peak oxygen uptake. Sixty-six patients with mild IS and 78 patients with moderate IS will be included.

Discussion

This study is the first controlled trial to systematically assess the effectiveness of TDCEs for IS. In addition to TDCET including three-dimensional corrective exercises, family rehabilitation and basic body awareness therapy may help patients adopt supportive attitudes and appropriate behaviours, thus enhancing their compliance with exercises and achieving better outcomes.

Trial registration

The study protocol was registered at www.clinicaltrials.gov (number identifier: NCT04539522). Registered on August 27, 2020.
Modified techniques versus Hadfield’s procedure in patients with periductal mastitis
Authors: Dalci Kubilay , Gumus Serdar , Saritas Ahmet Gokhan , Gul Mehmet Onur , Rencuzogullari Ahmet , Akcam Atilgan Tolga , Ulku Abdullah , Ergin Melek , Sakman Gurhan
Published: February 2022

Background

Periductal mastitis (PM) is a rare disease characterized by chronic inflammation of the terminal mammary ducts. Complete removal of terminal lactiferous ducts with Hadfield procedure is a previously defined technique in treatment but carries various complications risks. This study aims to evaluate the effectiveness of modified techniques in the treatment of PM.

Methods

Twenty women who underwent surgery due to PM between January 2012 and December 2019 were retrospectively analyzed. Types of PM were determined. All patients were operated on with three different incisions [Hadfield’s operation with periareolar incision (n:11), periareolar combined radial incision (n:7), and round block incision (n:2)].

Results

The mean age was 37.5 ± 6.5 years (range: 24–49). Sixty percent of patients had type 3 PM. In Hadfield’s procedure, NAC retraction (n:2), seroma (n:1), and hematoma (n:1) were seen. In the periareolar incision combined radial incision group only one patient had complications (seroma) and none in the round block method. Follow-up was 12 ± 1.5 months and disease relapse occurred in two patients in the Hadfield group. Patients who underwent round block were more satisfied with the appearance of the nipple.

Conclusions

In the treatment of PM, the main principle of surgical treatment is the excision of the affected canal with a clear margin. Apart from the classical Hadfield procedure, the round block method and periareolar combined radial incision techniques can be performed in the treatment of PM.