bluuebunny/crossref_metadata_2025 huggingface dataset:
The prevalence of overweight/obesity and its association with household food insecurity among women living with HIV in rural Eswatini
Authors: Becker Nozipho , Mkhonta Andile , Sibeko Lindiwe N.
Published: March 2022

Background

Eswatini is currently afflicted by an extremely high prevalence of HIV (27%) and malnutrition (both under-and over-nutrition). While rates of overweight/obesity in the general adult population have been documented, data on overweight/obesity and associated risk factors among women living with HIV (WLHIV) in Eswatini is limited. This study examines the prevalence of overweight/obesity and associated risk factors, with an emphasis on clarifying the association between household food insecurity and overweight/obesity for WLHIV in rural Eswatini.

Methods

This cross-sectional study was conducted among WLHIV (n = 166) in rural communities of Eswatini. Data were collected using an interviewer-administered survey questionnaire between October and November, 2017. Body Mass Index (BMI) was calculated to determine overweight and obesity among study participants. Women with BMI values of 25 kg/m2 or greater were classified as being overweight/obese. Multivariable log-binomial regression models were used to examine associations between household food insecurity and overweight/obesity in our study.

Results

Nearly a third (32.5%) of the women in our study were overweight and almost a quarter were obese (22.9%). We found significant associations between household food insecurity and overweight/obesity, with women who experienced household food insecurity the most being 0.38 times less likely to be overweight/obese compared to those who experienced household food insecurity the least (ARR: 0.38, 95% CI: 0.2–0.71). In our study sample, women who perceived themselves as being in poor health were less likely to be overweight/obese compared to those who perceived themselves as being in good health (ARR: 0.58, 95% CI: 0.39–0.86). We found significant associations between overweight/obesity and alcohol use, with the risk of overweight/obesity nearly 1.5 times higher among women who consumed alcohol compared to those who did not (ARR: 1.49, 95% CI: 1.07–2.05).

Conclusions

The high prevalence of overweight/obesity among food insecure women in poverty stricken communities may pose significant challenges for nutritional health and HIV management. With an increasing prevalence of overweight/obesity in food insecure households, there is a need to re-evaluate current strategies and develop multi-level targeted interventions that include prevention of excessive weight gain among women, particularly those living with HIV in rural Eswatini. HIV programs could include screening to identify individuals at risk for overweight/obesity in this population, and provide nutrition education for weight management for those individuals.
Minimal clinically important difference for improvement in six-minute walk test in persons with knee osteoarthritis after total knee arthroplasty
Authors: King Lauren K. , Hawker Gillian A. , Stanaitis Ian , Woodhouse Linda , Jones C. Allyson , Waugh Esther J.
Published: March 2022

Background

The interpretability of the six-minute walk test (6MWT) in individuals with knee osteoarthritis (OA) is unclear. We aimed to determine the minimal clinically important difference (MCID) for improvement in 6MWT in persons with knee OA at 12 months after total knee arthroplasty (TKA), and if it differed by baseline walking ability.

Methods

Participants with knee OA were assessed 1 month pre- and 12 months post-TKA, including completion of 6MWT. At 12 months, participant-perceived change in walking ability was assessed on an 8-point Likert scale ranging from “extremely worse” to “extremely better”. Using logistic regression, ROC curves examined the ability of change in 6MWT distance to discriminate those who perceived walking was improved. MCID was selected overall and then by quartile of baseline 6MWT distance using the Youden method.

Results

Two hundred seventy-eight participants were included: mean age 67 years (SD 8.5), 65.5% female, mean pre-TKA 6MWT distance 323.1 (SD 104.7) m, and mean 12-mo 6MWT distance 396.0 (SD 111.9) m. The overall MCID was 74.3 m (AUC 0.65). Acceptable model discrimination (AUC > 0.70) was achieved for individuals in the lowest quartiles of baseline 6MWT distance: Quartile 1: MCID 88.63 m (AUC 0.73); Quartile 2: MCID 84.47 m (AUC 0.72).

Conclusions

In persons with knee OA 12 months post-TKA, 6MWT MCID is dependent on baseline walking ability. Poor model discrimination for those in the highest (best) quartiles of baseline walking ability raise questions about 6MWT use across the full spectrum of walking ability. Further research is needed to better understand use of 6MWT as a performance-based measure of physical function for persons with knee OA.
mBrain: towards the continuous follow-up and headache classification of primary headache disorder patients
Authors: De Brouwer Mathias , Vandenbussche Nicolas , Steenwinckel Bram , Stojchevska Marija , Van Der Donckt Jonas , Degraeve Vic , Vaneessen Jasper , De Turck Filip , Volckaert Bruno , Boon Paul , Paemeleire Koen , Van Hoecke Sofie , Ongenae Femke
Published: March 2022

Background

The diagnosis of headache disorders relies on the correct classification of individual headache attacks. Currently, this is mainly done by clinicians in a clinical setting, which is dependent on subjective self-reported input from patients. Existing classification apps also rely on self-reported information and lack validation. Therefore, the exploratory mBrain study investigates moving to continuous, semi-autonomous and objective follow-up and classification based on both self-reported and objective physiological and contextual data.

Methods

The data collection set-up of the observational, longitudinal mBrain study involved physiological data from the Empatica E4 wearable, data-driven machine learning (ML) algorithms detecting activity, stress and sleep events from the wearables’ data modalities, and a custom-made application to interact with these events and keep a diary of contextual and headache-specific data. A knowledge-based classification system for individual headache attacks was designed, focusing on migraine, cluster headache (CH) and tension-type headache (TTH) attacks, by using the classification criteria of ICHD-3. To show how headache and physiological data can be linked, a basic knowledge-based system for headache trigger detection is presented.

Results

In two waves, 14 migraine and 4 CH patients participated (mean duration 22.3 days). 133 headache attacks were registered (98 by migraine, 35 by CH patients). Strictly applying ICHD-3 criteria leads to 8/98 migraine without aura and 0/35 CH classifications. Adapted versions yield 28/98 migraine without aura and 17/35 CH classifications, with 12/18 participants having mostly diagnosis classifications when episodic TTH classifications (57/98 and 32/35) are ignored.

Conclusions

Strictly applying the ICHD-3 criteria on individual attacks does not yield good classification results. Adapted versions yield better results, with the mostly classified phenotype (migraine without aura vs. CH) matching the diagnosis for 12/18 patients. The absolute number of migraine without aura and CH classifications is, however, rather low. Example cases can be identified where activity and stress events explain patient-reported headache triggers. Continuous improvement of the data collection protocol, ML algorithms, and headache classification criteria (including the investigation of integrating physiological data), will further improve future headache follow-up, classification and trigger detection.

Trial registration This trial was retrospectively registered with number NCT04949204 on 24 June 2021 at www.clinicaltrials.gov.
Program evaluation of a pilot mobile developmental outreach clinic for autism spectrum disorder in Ontario
Authors: Kamali Mahdis , Sivapalan Shivajan , Kata Anna , Kim Nicole , Shanmugalingam Neshanth , Duku Eric , Zwaigenbaum Lonnie , Georgiades Stelios
Published: March 2022

Background

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with increasing prevalence worldwide. Early identification of ASD through developmental screening is critical for early intervention and improved behavioural outcomes in children. However due to long wait times, delays in diagnosis continue to occur, particularly among minority populations who are faced with existing barriers in access to care. A novel Mobile Developmental Outreach Clinic (M-DOC) was implemented to deliver culturally sensitive screening and assessment practices to increase access to developmental health services, reduce wait times in diagnoses, and aid in equitable access to intervention programs among vulnerable populations in Ontario.

Methods

This study applied two evaluation frameworks (process and outcome evaluation) to determine whether the delivery model was implemented as intended, and if the program achieved its targeted goals. A mixed-methods design was undertaken to address the study objectives.

Results

Between September 2018–February 2020, M-DOC reached 227 families with developmental health concerns for their child, while successfully targeting the intended population and achieving its goals. The mean age of the child-in-need at intake was 31.6 months (SD 9.9), and 70% of the sample were male. The program’s success was attributed to the use of cultural liaisons to break cultural and linguistic barriers, the creation of multiple points of access into the diagnosis pathway, and delivery of educational workshops in local communities to raise awareness and knowledge of autism spectrum disorder.

Conclusions

The findings underscore the need for community-based intervention programs that focus on cultural barriers to accessing health services. The model of delivery of the M-DOC programs highlights the opportunity for other programs to adopt a similar mobile outreach clinic approach as a means to increase access to services, particularly in targeting hard-to-reach and vulnerable populations.
Cumulative live birth rates after IVF/ICSI cycles with sperm prepared by density gradient centrifugation vs. swim-up: a retrospective study using a propensity score-matching analysis
Authors: Rao Meng , Tang Li , Wang Longda , Chen Mengxiang , Yan Gaofeng , Zhao Shuhua
Published: March 2022

Background

Density gradient centrifugation (DGC) and swim-up (SU) are the two most widely used sperm preparation methods for in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). However, existing comparisons of IVF/ICSI outcomes following these sperm preparation methods are insufficient and controversial.

Methods

This retrospective study included all first autologous IVF and ICSI cycles performed between March 1, 2016, and December 31, 2020 in a single university-based center. A total of 3608 cycles were matched between DGC and SU using propensity score (PS) matching for potential confounding factors at a ratio of 1:1. The primary outcome was the cumulative live birth rate (cLBR) per aspiration.

Results

PS matching provided 719 cycles after DGC and 719 cycles after SU. After adjusting for confounders, the recovery rate, progressive motility rate after sperm preparation, fertilization rate, good-quality embryo rate, and blastocyst formation rate were similar between the DGC and SU groups. The cLBR (odds ratio [OR] = 1.143, 95% confidence interval [CI]: 0.893–1.461) and LBR per transfer (OR = 1.082, 95% CI: 0.896–1.307) were also not significantly different between the groups. Furthermore, no significant differences were found in all of the laboratory and clinical outcomes following conventional IVF or ICSI cycles between the two groups. However, a significantly higher fertilization rate (β = 0.074, 95% CI: 0.008–0.140) was observed when using poor-quality sperm in the DGC group than in the SU group.

Conclusions

Sperm preparation using DGC and SU separately resulted in similar IVF/ICSI outcomes. Further studies are warranted to compare the effects of these methods on IVF/ICSI outcomes when using sperm from subgroups of different quality.
Socioemotional development in infants of pregnant women during the COVID-19 pandemic: the role of prenatal and postnatal maternal distress
Authors: Duguay Gabrielle , Garon-Bissonnette Julia , Lemieux Roxanne , Dubois-Comtois Karine , Mayrand Kristel , Berthelot Nicolas
Published: March 2022

Background

An upsurge in psychological distress was documented in pregnant women during the COVID-19 pandemic. We investigated with a longitudinal design whether prenatal and postnatal maternal distress during the COVID-19 pandemic was associated with lower infant socioemotional development.

Methods

Pregnant women (N = 468, Mage = 30,00, 97.6% White) were recruited during the first COVID-19 mandatory lockdown in Quebec, Canada, from April 2nd to April 13th 2020 and were re-contacted at two months postpartum to complete self-reported measures of general (i.e. not specifically related to the COVID-19 pandemic) anxio-depressive symptoms and infant development. Structural equation modeling analyses were performed using maximum likelihood parameter estimation.

Results

Higher maternal prenatal distress significantly contributed to poorer infant socioemotional development. A mediation model showed that postnatal distress significantly mediated the association between prenatal distress and infant socioemotional development, whereas the direct effect of prenatal distress was no longer significant. Prenatal and postnatal maternal distress accounted for 13.7% of the variance in infant socioemotional development.

Conclusion

Our results call for special means of clinical surveillance in mothers and for innovative (online) interventions aiming to support maternal mental health during pregnancy and after delivery.
Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome
Authors: Luo Hunjin , Ni Liu , Yang Yi-Qiong , Zhang Xiao-Min , Huang Hongping , Tan Sainan , Ling Chen , Liang Li , Wang Ling , Dan Tang , Zhou Shu-Xiang , Yang Chunliu
Published: March 2022

Background

Ring chromosomes can be formed by terminal breaks of two arms of a chromosome and their rejoining, leading to a loss of genetic material. They may also be formed by telomere-telomere fusions with no deletion, resulting in the formation of a complete ring. Mosaic X-ring chromosomes are extremely rare and have highly variable phenotypes. Here, we report a case with a mosaic X-ring chromosome in a patient with Turner syndrome, and we illustrate the unreported complicated mechanism using chromosome analysis and fluorescence in situ hybridization (FISH).

Case presentation

A 10-year-old girl of short stature presenting Turner syndrome was admitted to our hospital. The patient’s clinical characteristics were subsequently documented. Genetic analysis showed a karyotype of mostly 45,X[140]/46,X,r(X)[60]. The X ring chromosome was cytogenetically characterized as 45,X/46,X,r(X)(p22.32q21.1), with a length of approximately 74 Mb.

Conclusions

Taken together, we report a rare case with a mosaic X ring chromosome in Turner syndrome and we believe this case expands our collective knowledge of mosaic structural chromosomal disorders and provides new insight into clinical management and genetic counseling for Turner syndrome.
Hif1α-dependent hypoxia signaling contributes to the survival of deep-layer neurons and cortex formation in a mouse model
Authors: Sakai Daisuke , Sugawara Takeru , Kurokawa Tomonori , Murakami Yuki , Tomosugi Mitsuhiro , Masuta Hiroko , Sakata-Haga Hiromi , Hatta Toshihisa , Shoji Hiroki
Published: March 2022

Hypoxia-inducible factor 1 α (Hif1α) plays a crucial role in brain development. To study the function of Hif1α in early brain development, we generated neuroepithelial cell-specific Hif1α-knockout mice. Hif1α-knockout mice died soon after birth; these mice exhibited an abnormal head shape, indicating the presence of brain defects. Morphological analysis revealed that Hif1α ablation reduced the overall size of the brain, especially affecting the telencephalon. Neuronal apoptosis predominantly occurred in deep-layer neurons, consequently the alignment of cortical layers was severely disorganized in Hif1α knockout mice. Furthermore, we demonstrated that Vegf signaling contributes to the survival of deep-layer neurons as a downstream effector of Hif1α-dependent hypoxia signaling. Taken together, our findings demonstrate that Hif1α plays a critical role in the early stages of telencephalon development.
Acknowledging extraordinary women in the history of medical entomology
Authors: Troyo Adriana , González-Sequeira María Paula , Aguirre-Salazar Mónica , Cambronero-Ortíz Ian , Chaves-González Luis Enrique , Mejías-Alpízar María José , Alvarado-Molina Kendall , Calderón-Arguedas Ólger , Rojas-Araya Diana
Published: March 2022

Throughout history, women have been actively involved in the advancement of science, while struggling to overcome challenges to participate and a lack of recognition. Prior to 1950, most women were not included in the lists of “classical” descriptions of the iconic scientific figures nor included in the most relevant historical accounts. Since the second half of the twentieth century, great efforts have been made to recognize the contributions of women to the advancement of science, especially since formal scientific careers have been dominated by men, with limited (or no) access to women. Despite these challenging social, political and cultural contexts, many women have succeeded in making significant advancements, and their contributions are now being acknowledged. Such efforts have led to the publication of recent reviews and compilations on outstanding women in biological sciences. The field of medical entomology is inherently interdisciplinary, focusing on insects and other arthropods that affect human health, with input primarily from the biological and medical sciences and a strong public health perspective. Several reviews and book chapters describing the history of medical entomology have been published over the decades, but few women are mentioned in these publications, even though many women have contributed to this field. Much of the information on these women is currently scattered throughout the published literature and historical records on a wide range of topics, including activism, virology, vector control and even acarology. Considering that there is no single available compilation of women contributors in the history of medical entomology, this review aims to provide a list of 22 women and their contributions to this field. The list includes women from diverse backgrounds, born in the late 1800s and before 1950, who directly impacted medical entomology in various ways and in different regions of the world. This compilation is far from exhaustive, but it aims to identify role models and examples of extraordinary women to motivate the evolving future of this field.

Graphical Abstract
Numerical resolution of the wave equation using the spectral method
Authors: Abdelwahed Mohamed , Chorfi Nejmeddine
Published: March 2022

We present a new procedure for the numerical study of the wave equation. We use the spectral discretization method associated with the Euler scheme for spatial and temporal discretization. A detailed numerical analysis leads to an a priori error estimate. We confirm the high precision of the method presented by a numerical study.
An investigation into the livelihoods strategies of informal women traders in Zimbabwe
Authors: Takaza Stella Chipo , Chitereka Chipo
Published: March 2022

This article investigated varieties of livelihoods strategies employed by some informal women traders doing business at flea markets in the Harare Business Districts of the Harare Province. The study was informed by the Sustainable Livelihood Approach proffered by the Swedish International Development Cooperation Agency Division (SIDA 2001) for Policy and Socio-Economic Analysis. A quantitative and qualitative research design was developed and data was gathered through questionnaires, in-depth interviews, focus group discussions and direct observations during transect walks. The objectives of the study were to; identify micro-credit schemes used by the informal women traders doing business at flea markets, explore the livelihoods of microcredit schemes as pathways to poverty eradication and finally determine interventions and sustainable strategies that could be used for the informal women traders. The study discovered that women informal traders engaged in diverse activities for sustainable livelihoods strategies that eradicate poverty. The bulk of informal women traders face staid livelihoods challenges, resulting in them living in poverty. The study thus calls on Government and financing institutions to finance them for local empowerment, gain access and control of available livelihoods resources in a meaningful way. A range of policy interventions and sustainable strategies could be developed that enable informal women traders to eradicate poverty in Zimbabwe,
Rasch analysis of consumer attitudes towards the mountain product label
Authors: Bassi Ivana , Carzedda Matteo , Gori Enrico , Iseppi Luca
Published: March 2022

In 2012 the European Union adopted the Regulation No. 1151/2012, which, among others, defines the legal framework to protect the originality and authenticity of mountain foods through the “Mountain Product” quality scheme. The research aims to analyze people’s attitudes towards mountain foods and the EU Mountain Product label, as well as their area of origin, i.e., the mountains. For the purpose of this research, the Rasch model was used since its properties make it suitable to identify the measure of interest. The results allow us to identify potential leverage to plan promotional activities in order to enhance the value of mountain food, raise awareness on the EU label, thus improving the sustainability of mountain farms and regions.
RNA sequencing identifies novel regulated IRE1-dependent decay targets that affect multiple myeloma survival and proliferation
Authors: Quwaider Dalia , Corchete Luis A. , Martín-Izquierdo Marta , Hernández-Sánchez Jesús M. , Rojas Elizabeta A. , Cardona-Benavides Ignacio J. , García-Sanz Ramón , Herrero Ana B. , Gutiérrez Norma C.
Published: March 2022

Background

IRE1 is an unfolded protein response (UPR) sensor with kinase and endonuclease activity. It plays a central role in the endoplasmic reticulum (ER) stress response through unconventional splicing of XBP1 mRNA and regulated IRE1-dependent decay (RIDD). Multiple myeloma (MM) cells are known to exhibit an elevated level of baseline ER stress due to immunoglobulin production, however RIDD activity has not been well studied in this disease. In this study, we aimed to investigate the potential of RNA-sequencing in the identification of novel RIDD targets in MM cells and to analyze the role of these targets in MM cells.

Methods

In vitro IRE1-cleavage assay was combined with RNA sequencing. The expression level of RIDD targets in MM cell lines was measured by real-time RT-PCR and Western blot.

Results

Bioinformatic analysis revealed hundreds of putative IRE1 substrates in the in vitro assay, 32 of which were chosen for further validation. Looking into the secondary structure of IRE1 substrates, we found that the consensus sequences of IRF4, PRDM1, IKZF1, KLF13, NOTCH1, ATR, DICER, RICTOR, CDK12, FAM168B, and CENPF mRNAs were accompanied by a stem-loop structure essential for IRE1-mediated cleavage. In fact, we show that mRNA and protein levels corresponding to these targets were attenuated in an IRE1-dependent manner by treatment with ER-stress-inducing agents. In addition, a synergistic effect between IMiDs and ER-stress inducers was found.

Conclusion

This study, using RNA sequencing, shows that IRE1 RNase has a broad range of mRNA substrates in myeloma cells and demonstrates for the first time that IRE1 is a key regulator of several proteins of importance in MM survival and proliferation.
Variants in genes related to development of the urinary system are associated with Mayer–Rokitansky–Küster–Hauser syndrome
Authors: Chu Chunfang , Li Lin , Li Shenghui , Zhou Qi , Zheng Ping , Zhang Yu-Di , Duan Ai-hong , Lu Dan , Wu Yu-Mei
Published: March 2022

Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, also known as Müllerian agenesis, is characterized by uterovaginal aplasia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Previous studies have associated sequence variants of PAX8, TBX6, GEN1, WNT4, WNT9B, BMP4, BMP7, HOXA10, EMX2, LHX1, GREB1L, LAMC1, and other genes with MRKH syndrome. The purpose of this study was to identify the novel genetic causes of MRKH syndrome. Ten patients with MRKH syndrome were recruited at Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China. Whole-exome sequencing was performed for each patient. Sanger sequencing confirmed the potential causative genetic variants in each patient. In silico analysis and American College of Medical Genetics and Genomics (ACMG) guidelines helped to classify the pathogenicity of each variant. The Robetta online protein structure prediction tool determined whether the variants affected protein structures. Eleven variants were identified in 90% (9/10) of the patients and were considered a molecular genetic diagnosis of MRKH syndrome. These 11 variants were related to nine genes: TBC1D1, KMT2D, HOXD3, DLG5, GLI3, HIRA, GATA3, LIFR, and CLIP1. Sequence variants of TBC1D1 were found in two unrelated patients. All variants were heterozygous. These changes included one frameshift variant, one stop-codon variant, and nine missense variants. All identified variants were absent or rare in gnomAD East Asian populations. Two of the 11 variants (18.2%) were classified as pathogenic according to the ACMG guidelines, and the remaining nine (81.8%) were classified as variants of uncertain significance. Robetta online protein structure prediction analysis suggested that missense variants in TBC1D1 (p.E357Q), HOXD3 (p.P192R), and GLI3 (p.L299V) proteins caused significant structural changes compared to those in wild-type proteins, which in turn may lead to changes in protein function. This study identified many novel genes, especially TBC1D1, related to the pathogenesis of MRKH syndrome. The identification of these variants provides new insights into the etiology of MRKH syndrome and a new molecular genetic reference for the development of the reproductive tract.
African wild dog movements show contrasting responses to long and short term risk of encountering lions: analysis using dynamic Brownian bridge movement models
Authors: Goodheart Ben , Creel Scott , Vinks Milan A. , Banda Kambwiri , Reyes de Merkle Johnathan , Kusler Anna , Dart Chase , Banda Kachama , Becker Matthew S. , Indala Peter , Simukonda Chuma , Kaluka Adrian
Published: March 2022

Background

Prey depletion is a threat to the world’s large carnivores, and is likely to affect subordinate competitors within the large carnivore guild disproportionately. African lions limit African wild dog populations through interference competition and intraguild predation. When lion density is reduced as a result of prey depletion, wild dogs are not competitively released, and their population density remains low. Research examining distributions has demonstrated spatial avoidance of lions by wild dogs, but the effects of lions on patterns of movement have not been tested. Movement is one of the most energetically costly activities for many species and is particularly costly for cursorial hunters like wild dogs. Therefore, testing how top-down, bottom-up, and anthropogenic variables affect movement patterns can provide insight into mechanisms that limit wild dogs (and other subordinate competitors) in resource-depleted ecosystems.

Methods

We measured movement rates using the motion variance from dynamic Brownian Bridge Movement Models (dBBMMs) fit to data from GPS-collared wild dogs, then used a generalized linear model to test for effects on movement of predation risk from lions, predictors of prey density, and anthropogenic and seasonal variables.

Results

Wild dogs proactively reduced movement in areas with high lion density, but reactively increased movement when lions were immediately nearby. Predictors of prey density had consistently weaker effects on movement than lions did, but movements were reduced in the wet season and when dependent offspring were present.

Conclusion

Wild dogs alter their patterns of movement in response to lions in ways that are likely to have important energetic consequences. Our results support the recent suggestion that competitive limitation of wild dogs by lions remains strong in ecosystems where lion and wild dog densities are both low as a result of anthropogenic prey depletion. Our results reinforce an emerging pattern that movements often show contrasting responses to long-term and short-term variation in predation risk.
Droplet digital PCR-based analyses for robust, rapid, and sensitive molecular diagnostics of gliomas
Authors: Wolter Marietta , Felsberg Jörg , Malzkorn Bastian , Kaulich Kerstin , Reifenberger Guido
Published: March 2022

Classification of gliomas involves the combination of histological features with molecular biomarkers to establish an integrated histomolecular diagnosis. Here, we report on the application and validation of a set of molecular assays for glioma diagnostics based on digital PCR technology using the QX200™ Droplet Digital™ PCR (ddPCR) system. The investigated ddPCR-based assays enable the detection of diagnostically relevant glioma-associated mutations in the IDH1, IDH2, H3-3A, BRAF, and PRKCA genes, as well as in the TERT promoter. In addition, ddPCR-based assays assessing diagnostically relevant copy number alterations were studied, including 1p/19q codeletion, gain of chromosome 7 and loss of chromosome 10 (+ 7/-10), EGFR amplification, duplication of the BRAF locus, and CDKN2A homozygous deletion. Results obtained by ddPCR were validated by other methods, including immunohistochemistry, Sanger sequencing, pyrosequencing, microsatellite analyses for loss of heterozygosity, as well as real-time PCR- or microarray-based copy number assays. Particular strengths of the ddPCR approach are (1) its high analytical sensitivity allowing for reliable detection of mutations even with low mutant allele frequencies, (2) its quantitative determination of mutant allele frequencies and copy number changes, and (3) its rapid generation of results within a single day. Thus, in line with other recent studies our findings support ddPCR analysis as a valuable approach for molecular glioma diagnostics in a fast, quantitative and highly sensitive manner.
Multiple intestinal lymphangiomas with episodic hemorrhage requiring partial laparoscopic resection: a case report
Authors: Kondo Hiroka , Ohki Takeshi , Ogawa Shimpei , Omori Teppei , Onizuka Hiromi , Nagashima Yoji , Yamaguchi Shigeki
Published: March 2022

Background

Lymphangioma is a non-epithelial tumor marked by aggregates of abnormally dilated lymphatics. Mesenteric occurrences account for < 1% of all cases, and < 0.05% involve the gastrointestinal tract. Most are confined to children, rarely affecting adults.

Case presentation

Herein, we describe an elderly Japanese woman with anemia, hypoalbuminemia, and episodic bleeding due to multiple intestinal lymphangiomas. Abdominal computed tomography revealed multiple low-density defects of mesentery, with areas of intermediate (T1 images) or high (T2 images) signal intensity similarly dispersed in magnetic resonance scanning sequences. Single-balloon enteroscopy was undertaken, enabling identification and tattooing of a small intestinal bleeding source. Laparoscopy-assisted resection at this site served to control related hemorrhage, removing a histologically confirmed hemolymphangioma. Having recovered uneventfully, the patient remained stable 2 months postoperatively.

Conclusions

Although rare in adults, mesenteric or gastrointestinal lymphangiomas must be considered in a setting of anemia and hypoalbuminemia. Complete resection is advantageous to improve patient symptoms, but limited resection of multiple lesions may be equally effective.
Electrical neurostimulation in glaucoma with progressive vision loss
Authors: Erb Carl , Eckert Sophie , Gindorf Pia , Köhler Martin , Köhler Thomas , Neuhann Lukas , Neuhann Thomas , Salzmann Nadja , Schmickler Stefanie , Ellrich Jens
Published: March 2022

Background

The retrospective study provides real-world evidence for long-term clinical efficacy of electrical optic nerve stimulation (ONS) in glaucoma with progressive vision loss.

Methods

Seventy glaucoma patients (45 to 86 y) with progressive vision loss despite therapeutic reduction of intraocular pressure (IOP) underwent electrical ONS. Closed eyes were separately stimulated by bipolar rectangular pulses with stimulus intensities up to 1.2 mA sufficient to provoke phosphenes. Ten daily stimulation sessions within 2 weeks lasted about 80 min each. Right before ONS at baseline (PRE), vision loss was documented by static threshold perimetry and compared to the same assessment approximately 1 year afterwards (POST). Mean defect (MD) was defined as primary outcome parameter. Perimetries with a reliability factor (RF) of max. 20% were considered.

Results

Perimetry follow-up of 101 eyes in 70 patients fulfilled the criterion of a max. 20% RF. Follow-up was performed on average 362.2 days after ONS. MD significantly decreased from PRE 14.0 dB (median) to POST 13.4 dB (p < 0.01). 64 eyes in 49 patients showed constant or reduced MD as compared to baseline (PRE 13.4 dB vs. POST 11.2 dB). In 37 eyes of 30 patients, MD increased from PRE 14.9 dB to POST 15.6 dB.

Conclusions

Innovative treatments that preserve visual function through mechanisms other than lowering IOP are required for glaucoma with progressive vision loss. The present long-term data document progression halt in more than 63% of affected eyes after ONS and, thus, extend existing evidence from clinical trials.
Convergent Synthesis of the HIJKLMN-Ring Fragment of Caribbean Ciguatoxin C-CTX-1 by a Late-Stage Reductive Olefin Coupling Approach
Authors: Sasaki Makoto , Iwasaki Kotaro , Arai Keisuke , Hamada Naoya , Umehara Atsushi
Published: March 2022

The convergent synthesis of the HIJKLMN-ring fragment of Caribbean ciguatoxin C-CTX-1, the major causative toxin for ciguatera fish poisoning in the Caribbean Sea and the Northeast Atlantic areas, is disclosed. The synthesis features a late-stage iron-catalyzed hydrogen atom transfer-initiated reductive olefin coupling to install the N-ring and a Suzuki–Miyaura coupling/thioacetalization strategy for the convergent assembly of the hexacyclic HIJKLM-ring skeleton.
Exercise Is Medicine for Underserved and Vulnerable Populations: Factors Influencing Implementation
Authors: Vermeesch Amber L. , Bustamante Eduardo E. , Coleman Nailah , Goldsby TaShauna , Hasson Rebecca E. , Hooker Steven P. , Marquez David X. , Conroy Molly B.
Published: March 2022

Purpose

Communities of underserved and vulnerable populations (UVP) are particularly at risk for the negative health consequences related to inadequate physical activity. UVP include individuals from the following groups: racial and ethnic minorities, individuals with disability, those from rural and inner-city areas, elderly and pediatric populations, undocumented immigrants and political refugees, the uninsured/underinsured, those with low income, individuals with chronic medical conditions, non-English-speaking populations, and those with limited health literacy. Exercise Is Medicine (EIM®), launched in 2007 by the American College of Sports Medicine (ACSM) and the American Medical Association®, is a population health initiative aimed at assessing and promoting physical activity among all populations in the United States. The rationale for this commentary is to describe challenges in implementing EIM® in UVP, discuss potential solutions to these challenges, and share lessons learned from a decade of work in this area to maximize the impact of EIM® in UVP and thereby increase physical activity levels in UVP.

Methods

The ACSM Underserved and Community Health Committee developed a series of symposia presented at the ACSM Annual Meetings in 2012, 2014, 2016, and 2018 to address EIM® in UVP in terms of barriers, opportunities, health policy, dissemination, and implementation. These symposia included both committee members and other national experts in relevant fields of health disparities, health policy, implementation science, and health care delivery. Symposia highlights and relevant updates were collated by a writing group of committee members for this commentary and organized by applying the Socioecological Model (i.e., individual, relationship, community, societal levels).

Results

Recommendations regarding best practices for EIM® dissemination and implementation among UVP are presented for healthcare providers, exercise professionals, and patients. Key findings include the importance of tailoring EIM® interventions to improve service to UVP and increase their access to EIM® resources.

Conclusion

For EIM® to achieve its aim of moving the needle on population health by increasing activity, it will need continued focus on EIM® implementation among UVP communities with the highest rates of chronic disease and the lowest rates of physical activity.
Wetlands, Flooding, and the Clean Water Act
Authors: Taylor Charles A. , Druckenmiller Hannah
Published: March 2022

In 2020 the Environmental Protection Agency narrowed the definition of “waters of the United States,” significantly limiting wetland protection under the Clean Water Act. Current policy debates center on the uncertainty around wetland benefits. We estimate the value of wet-lands for flood mitigation across the United States using detailed flood claims and land use data. We find the average hectare of wetland lost between 2001 and 2016 cost society $1,840 annually, and over $8,000 in developed areas. We document significant spatial heterogeneity in wetland benefits, with implications for flood insurance policy and the 50 percent of “isolated ” wetlands at risk of losing federal protection. (JEL K32, Q24, Q25, Q53, Q58)
Selling Consumer Data for Profit: Optimal ­Market-Segmentation Design and Its Consequences
Authors: Yang Kai Hao
Published: March 2022

A data broker sells market segmentations to a producer with private cost who sells a product to a unit mass of consumers. This paper characterizes the revenue-maximizing mechanisms for the data broker. Every optimal mechanism induces quasi-perfect price discrimination. All the consumers with values above a cost-dependent cutoff buy by paying their values while the rest of consumers do not buy. The characterization implies that market outcomes remain unchanged even if the data broker becomes more powerful—either by gaining the ability to sell access to consumers or by becoming a retailer who purchases the product and sells to the consumers exclusively. (JEL D42, D82, D83, L81, M31)
Machine-learning-based radiomics identifies atrial fibrillation on the epicardial fat in contrast-enhanced and non-enhanced chest CT
Authors: Zhang Lu , Xu Zhihan , Jiang Beibei , Zhang Yaping , Wang Lingyun , de Bock Geertruida H , Vliegenthart Rozemarijn , Xie Xueqian
Published: March 2022

Objective:

The purpose is to establish and validate a machine-learning-derived radiomics approach to determine the existence of atrial fibrillation (AF) by analyzing epicardial adipose tissue (EAT) in CT images.

Methods:

Patients with AF based on electrocardiographic tracing who underwent contrast-enhanced (n = 200) or non-enhanced (n = 300) chest CT scans were analyzed retrospectively. After EAT segmentation and radiomics feature extraction, the segmented EAT yielded 1691 radiomics features. The most contributive features to AF were selected by the Boruta algorithm and machine-learning-based random forest algorithm, and combined to construct a radiomics signature (EAT-score). Multivariate logistic regression was used to build clinical factor and nested models.

Results:

In the test cohort of contrast-enhanced scanning (n = 60/200), the AUC of EAT-score for identifying patients with AF was 0.92 (95%CI: 0.84–1.00), higher than 0.71 (0.58–0.85) of the clinical factor model (total cholesterol and body mass index) (DeLong’s p = 0.01), and higher than 0.73 (0.61–0.86) of the EAT volume model (p = 0.01). In the test cohort of non-enhanced scanning (n = 100/300), the AUC of EAT-score was 0.85 (0.77–0.92), higher than that of the CT attenuation model (p < 0.001). The two nested models (EAT-score+volume and EAT-score+volume+clinical factors) for contrast-enhanced scan and one (EAT-score+CT attenuation) for non-enhanced scan showed similar AUCs with that of EAT-score (all p > 0.05).

Conclusion:

EAT-score generated by machine-learning-based radiomics achieved high performance in identifying patients with AF.

Advances in knowledge:

A radiomics analysis based on machine learning allows for the identification of AF on the EAT in contrast-enhanced and non-enhanced chest CT.
Η διάρθρωση της ελληνικής οικονομίας και η παραγωγικότητα της εργασίας (1995-2010)
Authors: Μαρκάκη Μαρία
Published: March 2022

Αντικείμενο της παρούσας διατριβής είναι η διερεύνηση της παραγωγικότητας της εργασίας και των παραγόντων που την επηρεάζουν, υπό το πρίσμα των διαρθρωτικών σχέσεων που αναπτύσσονται στο εσωτερικό μιας οικονομίας. Για τη διερεύνηση του στόχου, επιλέχθηκε το θεωρητικό και εμπειρικό πλαίσιο της ανάλυσης Εισροών-Εκροών, η οποία έχει το πλεονέκτημα να συμπεριλαμβάνει στις εξεταζόμενες μεταβλητές, την τεχνολογία παραγωγής ενός οικονομικού συστήματος, όπως αυτή εκφράζεται από τις διακλαδικές συναλλαγές του. Παράλληλα, διερευνώνται η διάρθρωση της παραγωγής και της απασχόλησης της οικονομίας, στα πλαίσια του ίδιου υποδείγματος. Στην κατεύθυνση αυτή, παρουσιάζεται αρχικά το θεωρητικό και αναλυτικό πλαίσιο του υποδείγματος εισροών-εκροών, καθώς και η εμπειρική του εξειδίκευση, μέσω της οποίας διερευνώνται οι διαρθρωτικές σχέσεις παραγωγής και απασχόλησης των κλάδων της ελληνικής οικονομίας. Στη συνέχεια, για τη μέτρηση της παραγωγικότητας της εργασίας και των διαρθρωτικών της χαρακτηριστικών προτείνεται ένα μοντέλο, στο πλαίσιο της ανάλυσης εισροών-εκροών, με την εφαρμογή του οποίου εκτιμάται το μέγεθός της σε σχέση και με την τεχνολογία παραγωγής της οικονομίας, όπως αυτή εκφράζεται από την αντίστροφη μήτρα του Leontief. Ενώ, παράλληλα, στη βάση του εν λόγω πλαισίου, προσαρμόζεται και επεκτείνεται κατάλληλα η μέθοδος του Δομικού Διαχωρισμού Παραγόντων προκειμένου να εκτιμηθεί και να αξιολογηθεί η συμβολή των προσδιοριστικών παραγόντων της παραγωγικότητας της εργασίας στη διαμόρφωσή της. Η διερεύνηση γίνεται για την ελληνική οικονομία, την περίοδο 1995-2010.
Introducing the Task Switching Game: a paradigm for neuroimaging and online studies
Authors: Kurtin Danielle L. , Jaquiery Dr. Matthew , Auer Dr. Tibor , Hampshire Prof. Adam , Violante Dr. Ines R.
Published: March 2022

While writing this abstract I received an email, which I promptly answered. When I returned my attention to the abstract, I struggled to regain my flow of writing. In order to understand this deficit in performance associated with switching from one task to another, or "switch cost", cognitive neuroscientists use task switching paradigms to recreate similar experiences. However, many researchers may be familiar with the difficulties that accompany modifying an established paradigm to suit their experimental design, or even the challenge of creating a new, unvalidated paradigm to perturb a particular aspect of cognitive function. This software tool article introduces a novel task switching paradigm for use and adaptation in online and neuroimaging task switching studies. The paradigm was constructed with a flexible, easily-adapted framework that can accommodate a variety of designs. This paradigm utilizes three psychometrically opposed but visually similar tasks- the Digit Span, the Spatial Span, and the Spatial Rotation. In two Use Cases we demonstrate the reliable nature of overall task performance and the dependence of switch costs on certain task parameters. This task framework can be adapted for use across different experimental designs and environment, and we encourage researchers to modify the task switching game for their experiments.
IL1B gene variants, but not TNF, CXCL8, IL6 and IL10, modify the course of cystic fibrosis in Polish patients.
Authors: Zakerska-Banaszak Oliwia , Gozdzik-Spychalska Joanna , Gabryel Marcin , Zuraszek Joanna , Skrzypczak-Zielinska Marzena , Slomski Ryszard , Dobrowolska Agnieszka , Piorunek Tomasz , Batura-Gabryel Halina
Published: March 2022

Background: The main aim of this study was to evaluate whether selected polymorphic variants in genes from the inflammatory pathway can be predictors of pulmonary or digestive manifestation of cystic fibrosis, as well as of severity of lung disease.

Materials and methods: Using pyrosequencing and sequencing we have genotyped 12 variants in TNF (rs361525, rs1800629), CXCL8 (rs4073, rs2227306, rs2227307, rs188378669), IL1B (rs16944, rs1143634, rs1142639, rs1143627), IL6 (rs1800795) and IL10 (rs1800896) genes in a cohort of 55 Polish patients with diagnosed cystic fibrosis and controls. In our study group, a pulmonary manifestation of disease revealed 44 of subjects (80%), and digestive symptoms dominated in 11 (20%) of analyzed individuals. Severe lung dysfunction has occurred in 20 (36.4%) of patients.

Results: We proved, that two promoter variants of IL1B, rs1143627 (c.-118G > A) and rs16944 (c.-598T > C) are presented significantly more often  in patients with severe character of lung disease compared to mild (82.5% vs. 62.8%, p-value 0.030, and 87.5% vs. 64.3%, p-value 0.008, respectively) in cystic fibrosis course. Haplotype AC formed by both changes had also a higher frequency (80%) in patients with severe course compared to the mild character (61.4%) of disease. However, the frequency of promoter variant TNF c.-308C > T (rs1800629) was presented at a significantly lower level in the patient’s group compared to healthy controls (2.7% vs. 15%, p-value 0.001). Furthermore, the presence of methicillin-resistant Staphylococcus aureus significantly correlated with the lower FEV1% in patients (p-value 0.01).

Conclusions: Genetic variants, rs1143627 and rs16944, of IL1B are promising candidates as predictors of the severe character of lung disease in Polish patients with cystic fibrosis.
Dataset for the adapted COVID stress scales (ACSS) including teaching anxiety and preparedness, and resilience of academic professionals in Mexico
Authors: Padilla-Rivas Gerardo  R. , Delgado-Gallegos Juan Luis , Arellanos-Soto Daniel , Franco-Villareal Hector , Cosío-León María de los Ángeles , Avilés-Rodríguez Gener , Zuñiga-Violante Erika , Romo-Cardenas Gerardo Salvador , Islas Jose Francisco
Published: March 2022

Because of COVID-19, many social interactions have been continued through electronic means. This has been especially true for the educational experience, where professors and students have strived to move to the virtual classroom. The data sets presented here examined how academic professionals have dealt with the stress of the move, how they have strived to become more prepared and eventually more resilient to this change. Using an online platform, we obtained data at the end of the academic period during November and December 2020. The data analyzed three major areas: teaching anxiety and preparedness, resilience, and overall stress, by applying a modified version of the adapted COVID-Stress Scales.  We statistically analyzed our data looking for important correlations, to help better understand the challenges educators have met though the pandemic, and how this can assist policy-makers in managing stress and looking for ways to enhance resilience in academic professionals.