bluuebunny/crossref_metadata_2025 huggingface dataset:
Association between partial thrombosis of the corpus cavernosum, partial priapism, and hard flaccid syndrome: A scoping review
Authors: Ocampo Flórez Ginna Marcela , Carvajal Obando Alejandro , García‐Perdomo Herney Andrés
Published: April 2022

Aim

To describe the association between partial thrombosis of the corpus cavernosum, partial priapism, and hard flaccid syndrome.

Methods

A scoping review was performed according to the recommendations of the Joanna Briggs Institute. Moreover, we performed a search strategy using the MEDLINE, EMBASE, and CENTRAL databases. We included the available information, evaluating the conditions of partial thrombosis of the corpus cavernosum, partial priapism, and hard flaccid syndrome, and their molecular and physiological mechanisms and clinical presentation.

Results

We identified 207 articles and chose eight studies published between 2001 and 2021. The total number of patients was 34, and their mean age was 28.2 years. Moreover, in 84% of the studies, the pathophysiology of the events was related to microtrauma or prolonged perineal compression. Additionally, 94.2% of the patients had some degree of erectile dysfunction. In addition, out of all patients, 94% underwent magnetic resonance imaging (MRI). However, patients with hard flaccid syndrome did not show relevant findings in these studies. Conversely, MRI showed asymmetry in the proximal corpora cavernosa, thrombosed corpus cavernosum segments, and mainly cavernous fibrous septum in patients with partial cavernous thrombosis and partial priapism.

Conclusion

Partial thrombosis of the corpus cavernosum, partial priapism, and hard flaccid syndrome occurred more frequently in young patients, possibly related to microtraumas that generate cavernous fibrosis and trigger alterations in the erection of the distal portion of the penis. Additionally, they cause proximal hardening of the pelvis, perineal pain, painful ejaculations, and cavernous asymmetry. Moreover, the imaging characteristics are similar in patients with partial priapism and partial cavernous thrombosis.
Injection site microflora in persons with diabetes: why needle reuse is not associated with increased infections?
Authors: Wareham‐Mathiassen Sofia , Bay Lene , Glenting Vera Pinto , Fatima Naireen , Bengtsson Henrik , Bjarnsholt Thomas
Published: April 2022

Needle reuse is a common practice and primary cause of customer compliance issues such as pain, bruising, clogging, injection site reactions (ISR), and associated lipodystrophy. This study aimed to characterize skin microflora at injection sites and establish microbial contamination of used pen injectors and needles. The second objective was to evaluate the risk of infections during typical and repeated subcutaneous injections. 50 participants with diabetes and 50 controls (n = 100) were sampled through tape strips and skin swabs on the abdomen and thigh for skin microflora. Used pen injectors and needles were collected after in‐home use and from the hospital after drug administration by health care professionals (HCPs). Samples were analyzed by conventional culture, matrix‐assisted laser desorption/ionization‐time of flight (MALDI‐TOF), mass spectrometry (MS), confocal laser scanning microscopy (CLSM), and 16S/ITS high throughput sequencing (HTS). A mathematical model simulated the risk of needle contamination during injections. Injection site populations were in 102 cells/cm2 order, with increased viable bacteria and anaerobic bacteria on the skin in persons with diabetes (p = 0.05). Interpersonal variation dominated other factors such as sex or location. A higher prevalence of Staphylococcus aureus on abdominal skin was found in persons with diabetes than control skin (p ≤ 0.05). Most needles and cartridges (95% and 86%) contained no biological signal. The location of the device collection (hospital vs home‐use) and use regimen did not affect contamination. CLSM revealed scarcely populated skin microflora scattered in aggregates, diplo, or single cells. Our mathematical model demonstrated that penetrating bacteria colonies during subcutaneous injection is unlikely. These findings clarify the lack of documented skin infections from subcutaneous insulin injections in research. Furthermore, these results can motivate the innovation and development of durable, reusable injection systems with pharmacoeconomic value and a simplified and enhanced user experience for patients.
Age determines the risk of familial inflammatory bowel disease—A nationwide study
Authors: Halfvarson Jonas , Ludvigsson Jonas F. , Bresso Francesca , Askling Johan , Sachs Michael C. , Olén Ola
Published: April 2022

Background and Aims

To estimate familial aggregation of inflammatory bowel disease (IBD), we performed a nationwide, case–control study and examined the odds for patients with IBD (vs controls) to have a first‐degree relative (FDR) with IBD, by age of diagnosis, type of family history and IBD subtype. To assess the incidence of future IBD in relatives of incident IBD patients, we performed a cohort study.

Methods

Individuals diagnosed with IBD (N = 50,667) between 2003 and 2017 with at least one FDR were identified from Swedish national registers and compared to general population controls (N = 506,720) with at least one FDR. We used logistic regression to calculate adjusted odds ratios (ORs) and Cox regression to estimate hazard ratios (HRs).

Results

Compared to controls, IBD cases more often had a mother (3.0% vs 0.9%, OR = 3.5; 95% CI: 3.3–3.7), father (2.9% vs 0.8%, OR = 3.5; 95% CI: 3.3–3.7), full sibling (5.3% vs 1.5%, OR = 3.6; 95% CI: 3.4–3.8) and child (2.4% vs 0.9%, OR = 2.6; 95% CI: 2.4–2.8) with IBD. The strength of association increased with the number of affected FDRs and was modified by subtype of IBD and age of diagnosis. Highest ORs were observed for paediatric IBD among paediatric‐onset Crohn’s disease (OR = 10.6; 95% CI: 8.2–13.5) and paediatric‐onset ulcerative colitis (OR = 8.4; 95% CI: 6.4–10.9) cases. The 10‐year cumulative incidence of IBD was 1.7% in full‐siblings of incident IBD patients vs 0.4% among full‐siblings of reference individuals.

Conclusion

The variations in the strength of familial IBD and future risk of IBD in FDRs support differences in genetic predisposition and call for targeted approaches in potential screening programmes.
The push toward institutional control: Structural violence and youth in Hawaiʻi
Authors: King Sanna
Published: April 2022

Concerns surrounding juvenile delinquency point to neoliberal notions of youth responsibilization with no regard to the violence of structural oppressions and daily hardships, in which deviance could be a form of response. This article discusses the influence of and response to structural violence and oppression that resulted in daily hardships for youth, and for some youth, deviant behaviors that pushed them toward the criminal justice system. Drawing on in‐depth interviews with 64 participants and 532 pieces of youth writings in Hawaiʻi, this study examines how experiences with structural violence and oppression pushed youth in Hawaiʻi toward institutional control. Findings indicate the role racialized and gendered structures developed through colonialism had in the lives of youth in Hawaiʻi and their difficult experiences with family instability and patriarchal control that result in youth engaging in deviant coping mechanisms. Youth exhibited resilience in the face of hardship and methods of control that speak to the lack of choices youth have in places with histories of colonialism.
Barriers to labor after cesarean: A survey of United States midwives
Authors: Thornton Patrick D. , Liese Kylea , Adlam Kirby , Erbe Katherine , McFarlin Barbara L.
Published: April 2022

Introduction

Despite calls for increased vaginal birth after cesarean (VBAC), <14% of candidates have VBAC. Requirements for documentation of scar type, and prohibitions on induction or augmentation of labor are not supported by evidence but may be widespread. The purpose of this study was to document midwives’ perceptions of barriers to labor after cesarean (LAC) and their effects on midwives’ ability to accommodate patient desires for LAC.

Methods

Midwives certified by the American Midwifery Certification Board (AMCB) were surveyed in 2019. Multiple option and open‐ended text responses were analyzed using quantitative statistics and thematic content analysis. Select barriers to LAC, ability to accommodate LAC, and supportiveness of collaborators among midwives offering LAC were explored.

Results

Responses from 1398 midwives were analyzed. Eighty‐four percent felt able to accommodate LAC “most of the time,” and 39% reported one or more barriers to LAC. Barriers decreased ability to accommodate LAC by as much as 80%. Analysis of text responses revealed specific themes.

Conclusions

Thirty‐nine percent of midwives reported their practice was limited by one or more barriers that were inconsistent with professional guidelines. Imposition of barriers was driven primarily by collaborating physicians, and superceded supportive practices of midwives, nurses, and system administrators. Affected midwives were significantly less able to accommodate patient requests for LAC than those not affected. Midwives also reported pride in providing VBAC care, restrictions specific to midwifery scope of practice, and variation in physician support for LAC within practices affecting their ability to provide care.
The current state of genetic risk models for the development of kidney cancer: a review and validation
Authors: Harrison Hannah , Li Nicole , Saunders Catherine L. , Rossi Sabrina H. , Dennis Joe , Griffin Simon J. , Stewart Grant D. , Usher‐Smith Juliet A.
Published: April 2022

Objective

To review the current state of genetic risk models for predicting the development of kidney cancer, by identifying and comparing the performance of published models.

Methods

Risk models were identified from a recent systematic review and the Cancer‐PRS web directory. A narrative synthesis of the models, previous validation studies and related genome‐wide association studies (GWAS) was carried out. The discrimination and calibration of the identified models was then assessed and compared in the UK Biobank (UKB) cohort (cases, 452; controls, 487 925).

Results

A total of 39 genetic models predicting the development of kidney cancer were identified and 31 were validated in the UKB. Several of the genetic‐only models (seven of 25) and most of the mixed genetic‐phenotypic models (five of six) had some discriminatory ability (area under the receiver operating characteristic curve >0.5) in this cohort. In general, models containing a larger number of genetic variants identified in GWAS performed better than models containing a small number of variants associated with known causal pathways. However, the performance of the included models was consistently poorer than genetic risk models for other cancers.

Conclusions

Although there is potential for genetic models to identify those at highest risk of developing kidney cancer, their performance is poorer than the best genetic risk models for other cancers. This may be due to the comparatively small number of genetic variants associated with kidney cancer identified in GWAS to date. The development of improved genetic risk models for kidney cancer is dependent on the identification of more variants associated with this disease. Whether these will have utility within future kidney cancer screening pathways is yet to determined.
Periods of uncertainty: The experience of at‐risk young adult Arabs during the transition to adulthood in the wake of COVID‐19
Authors: Sulimani‐Aidan Yafit
Published: April 2022

The ongoing COVID‐19 global health crisis has both short‐ and long‐term implications for the lives of young adults worldwide, especially young adults from vulnerable communities. The current exploratory study is the first, to our knowledge, that investigates the impact of the pandemic on the lives of at‐risk young adult Arabs, who are part of a national minority group in Israel. Twenty‐eight at‐risk young adults aged 18 to 25 participated in semistructured interviews regarding the experiences, challenges and barriers they faced as emerging adults during the pandemic. Grounded theory analysis and theoretical thematic analysis were used to analyse the interviews. Findings revealed that the pandemic and the policy decisions made in its wake influenced the young adults' lives in primary areas including their financial and occupational status, their social ties and social support networks, their relationships with their biological families and their future plans and goals. The study's findings shed light on the complex reality of at‐risk young adults during the pandemic and emphasize the increasing vulnerability of this cohort. The challenges they face as members of a collectivist society and of a national minority group are discussed. Implications for policy and practice highlight the need to increase these young adults' occupational and financial opportunities and to design holistic services that take into account their personal and sociocultural characteristics.
A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females
Authors: Loeuillet Corinne , Dhellemmes Magali , Cazin Caroline , Kherraf Zine‐Eddine , Fourati Ben Mustapha Selima , Zouari Raoudha , Thierry‐Mieg Nicolas , Arnoult Christophe , Ray Pierre F.
Published: April 2022

A female factor is present in approximately 70% of couple infertility, often due to ovulatory disorders. In oocyte maturation defect (OMD), affected patients have a primary infertility with normal menstrual cycles but produce no oocyte, degenerated (atretic) or abnormal oocytes blocked at different stages of maturation. Four genes have so far been associated with OMD: PATL2, TUBB8, WEE2, and ZP1. In our initial study, 6 out of 23 OMD subjects were shown to carry the same PATL2 homozygous loss of function variant and one patient had a TUBB8 truncating variant. Here, we included four additional OMD patients and reanalyzed all 27 subjects. In addition to the seven patients with a previously identified defect, five carried the same deleterious homozygous ZP1 variant (c.1097G>A; p.Arg366Gln). All the oocytes from ZP1‐associated patients appeared shriveled and dark indicating that the abnormal ZP1 protein induced oocyte death and degeneration. Overall ZP1‐associated patients had degenerated or absent oocytes contrary to PATL2‐associated subjects who had immature oocytes blocked mainly at the germinal vesicle stage. In this cohort of North African OMD patients, whole exome sequencing permitted to diagnose 44% of the patients studied and to identify a new frequent ZP1 variant.
Prevalence of contact allergy to corticosteroids in a Danish patient population
Authors: Svendsen Sebastian Vigand , Bach Rasmus Overgaard , Mortz Charlotte G.
Published: April 2022

Background

Allergic contact dermatitis to corticosteroids can be a challenging diagnosis as corticosteroids are used in the treatment of dermatitis. The prevalence of contact allergy to corticosteroid varies between previous studies.

Objective

To study the prevalence of sensitization to budesonide, tixocortol‐21‐pivalate and hydrocortisone‐17‐butyrate in a Danish patient population from 2006‐2020, cross‐sensitization, risk factors and clinical relevance.

Methods

A retrospective analysis of patch test data and MOAHLFA index was performed among 6823 patients consecutively patch tested with TRUE test as part of the baseline series.

Results

A positive patch test for corticosteroids was found in 185 patients (1.2% budesonide, 1.6% tixocortol‐21‐pivalate, 1.0% hydrocortisone‐17‐butyrate) without gender difference. For women, the prevalence of tixocortol‐21‐pivalate sensitization increased significantly from 1.3% in 2006–2008 to 2.9% in 2018–2020. Tixocortol‐21‐pivalate sensitization had more frequently clinical relevance in women (61.3%) compared to men (34.5%). Age above 40 years was positively associated to corticosteroid sensitization. Budesonide and hydrocortisone‐17‐butyrate accounted for 67.7% of co‐sensitizations.

Conclusions

The prevalence of corticosteroid sensitization was 2.7%. Age was the only risk factor for corticosteroid sensitization. The frequency of corticosteroid sensitization was stabile over time except for tixocortol‐21‐pivalate sensitization for women. About one third of sensitized patients had co‐sensitizations to other corticosteroid groups.
Five comparative cohorts to assess the risk of genital tract infections associated with sodium‐glucose cotransporter‐2 inhibitors initiation in type 2 diabetes mellitus
Authors: Alkabbani Wajd , Zongo Arsène , Minhas‐Sandhu Jasjeet K. , Eurich Dean T. , Shah Baiju R. , Alsabbagh Mhd. Wasem , Gamble John‐Michael
Published: April 2022

Aim

To assess the association between SGLT‐2 inhibitors initiation and genital tract infections (GTIs) among patients with type 2 diabetes.

Methods

A population‐based cohort study using administrative healthcare data from Alberta, Canada, and primary care data from the UK’s Clinical Practice Research Datalink (CPRD). Among new metformin users, we identified new users of SGLT‐2 inhibitors and five active comparator cohorts (new users of dipeptidyl peptidase‐4 (DPP‐4) inhibitors, sulfonylureas (SU), glucagon‐like peptide‐1 receptor agonists (GLP‐1 RA), thiazolidinediones (TZD) and insulin). The outcome of interest was a composite GTI outcome. In each cohort, we used high‐dimensional propensity score matching to adjust for confounding and conditional Cox proportional hazards regression to estimate the hazard ratios (HR). We used random‐effects meta‐analysis to combine aggregate data across databases.

Results

The risk of GTI was higher for SGLT‐2 inhibitors users compared with DPP4inhibitor users (pooled HR 2.68, 95% CI 2.19 3.28), SU users (3.29, 2.62–4.13), GLP1‐RA users (2.51, 1.90–3.31), TZD users (4.17, 2.46–7.08) and insulin users (1.86, 1.27–2.73).

Conclusion

In five comparative cohorts, SGLT‐2 inhibitors initiation is associated with a higher risk of GTIs. These findings from real‐world data are consistent with placebo‐controlled randomized controlled trials.
Age‐related changes in self‐reported psychotic experiences in clinical help‐seeking population: From 15 to 45 years
Authors: Chen YingMei , Wang JunJie , Xu LiHua , Wei YanYan , Tang XiaoChen , Hu YeGang , Zhou LinLin , Wang JiJun , Zhang TianHong
Published: April 2022

Aims

Psychotic experiences differ with age. It is currently unknown whether there were specific patterns and associations between the presentation of psychotic experiences and age. This study aimed to explore age‐related differences (15–45 years) in self‐reported psychotic experiences in a large‐scale clinical population.

Methods

A total of 2542 consecutive new patients aged 15–45 years were recruited on their first visit to the Shanghai Mental Health Center and screened with the PRIME Screen–Revised (PS‐R). According to the clinical diagnostic information of patients from their outpatient medical records compiled by their clinicians, four diagnostic categories were applied: 1) psychotic disorder; 2) mood disorder; 3) anxiety disorder and 4) others.

Results

The PS‐R scores of self‐reported psychotic experiences declined with age, except for two age ranges: ≤18 years for overall sample (≤18 vs. 19–34 years: t = 5.531, df = 2202, p < .001) and 37–40 years for female sample (37–40 vs. >40 years: t = 1.985, df = 138, p = .049), which showed upward trends, contrary to those of others. There were no significant differences in self‐reported psychotic experiences between age groups in patients with psychotic disorders, while significant age differences were found in all nonpsychotic patients.

Conclusion

These findings support the view that frequent PS‐R screening demonstrated that psychotic experiences decline with age in the clinical population. Early detection of psychosis should focus on not only adolescents but also women aged >36 years.
Real‐world data on voxelotor to treat patients with sickle cell disease
Authors: Muschick Kathryn , Fuqua Tranaka , Stoker‐Postier Carrianne , Anderson Alan R.
Published: April 2022

Objectives

The aim of this single‐center chart review was to quantify the hematologic response and validated reported outcomes with voxelotor treatment.

Methods

Real‐world data were collected retrospectively in patients with sickle cell disease (12–70 years old) who were treated with standard‐of‐care procedures. Data were collected before and during voxelotor treatment.

Results

A total of 77 patients with a mean age of 30.4 years were included in the analysis; 30% of patients were children <21 years old. Most patients were female (62%), had a homozygous hemoglobin S (HbSS) genotype (86%), and were treated with concomitant hydroxyurea (HU; 82%). The mean baseline Hb level was 8.3 g/dl, reticulocyte percentage was 11.5%, and total bilirubin was 3.5 mg/dl. The mean duration of voxelotor treatment was 9.7 months (range: 1.9–17 months). Favorable responses to voxelotor treatment and signs of hematologic response after voxelotor treatment included increased Hb levels, decreased reticulocyte percentage, and decreased total bilirubin. In patients treated with concomitant HU, a more robust improvement was noted versus voxelotor alone, suggesting a complementary effect. Recorded adverse events were rare, mild, and self‐limited and resolved with dose modification.

Conclusions

Hematologic improvements were observed after voxelotor treatment, with a potential additive benefit with concomitant HU treatment.
Psychometric deficits in autoimmune encephalitis: A retrospective study from the Australian Autoimmune Encephalitis Consortium
Authors: Griffith Sarah , Wesselingh Robb , Broadley James , O'Shea Marie , Kyndt Chris , Meade Catherine , Long Brian , Seneviratne Udaya , Reidy Natalie , Bourke Robert , Buzzard Katherine , D'Souza Wendyl , Macdonell Richard , Brodtmann Amy , Butzkueven Helmut , O'Brien Terence J. , Alpitsis Rubina , Malpas Charles B. , Monif Mastura ,   Australian Autoimmune Encephalitis Consortium
Published: April 2022

Background and purpose

Despite the rapid increase in research examining outcomes in autoimmune encephalitis (AE) patients, there are few cohort studies examining cognitive outcomes in this population. The current study aimed to characterise psychometric outcomes in this population, and explore variables that may predict psychometric outcomes.

Methods

This retrospective observational study collected psychometric data from 59 patients across six secondary and tertiary referral centres in metropolitan hospitals in Victoria, Australia between January 2008 and July 2019. Frequency and pattern analysis were employed to define and characterize psychometric outcomes. Univariable logistic regression was performed to examine predictors of intact and pathological psychometric outcomes.

Results

Deficits in psychometric markers of executive dysfunction were the most common finding in this cohort, followed by deficits on tasks sensitive to memory. A total of 54.2% of patients were classified as having psychometric impairments across at least two cognitive domains. Twenty‐nine patterns were observed, suggesting outcomes in AE are complex. None of the demographic data, clinical features or auxiliary examination variables were predictors of psychometric outcome.

Conclusions

Cognitive outcomes in AE are complex. Further detailed and standardized cognitive testing, in combination with magnetic resonance imaging volumetrics and serum/cerebrospinal fluid biomarkers, is required to provide rigorous assessments of disease outcomes.
COVID‐19 vaccination hesitancy among people with chronic neurological disorders: A position paper
Authors: Rakusa Martin , Öztürk Serefnur , Moro Elena , Helbok Raimund , Bassetti Claudio L. , Beghi Ettore , Bereczki Daniel , Bodini Benedetta , Di Liberto Giovanni , Jenkins Thomas M. , Macerollo Antonella , Maia Luis F. , Martinelli‐Boneschi Filippo , Pisani Antonio , Priori Alberto , Sauerbier Anna , Soffietti Riccardo , Taba Pille , von Oertzen Tim J. , Zedde Marialuisa , Crean Michael , Burlica Anja , Cavallieri Francesco , Sellner Johann ,   the European Academy of Neurology NeuroCOVID‐19 Task Force
Published: April 2022

Background and purpose

Health risks associated with SARS‐CoV‐2 infection are undisputed. Moreover, the capability of vaccination to prevent symptomatic, severe, and fatal COVID‐19 is recognized. There is also early evidence that vaccination can reduce the chance for long COVID‐19. Nonetheless, the willingness to get vaccinated and receive booster shots remains subpar among people with neurologic disorders. Vaccine scepticism not only jeopardizes collective efforts to end the COVID‐19 pandemic but puts individual lives at risk, as some chronic neurologic diseases are associated with a higher risk for an unfavorable COVID‐19 course.

Methods

In this position paper, the NeuroCOVID‐19 Task Force of the European Academy of Neurology (EAN) summarizes the current knowledge on the prognosis of COVID‐19 among patients with neurologic disease, elucidates potential barriers to vaccination coverage, and formulates strategies to overcome vaccination hesitancy. A survey among the Task Force members on the phenomenon of vaccination hesitancy among people with neurologic disease supports the lines of argumentation.

Results

The study revealed that people with multiple sclerosis and other nervous system autoimmune disorders are most skeptical of SARS‐CoV‐2 vaccination. The prevailing concerns included the chance of worsening the pre‐existing neurological condition, vaccination‐related adverse events, and drug interaction.

Conclusions

The EAN NeuroCOVID‐19 Task Force reinforces the key role of neurologists as advocates of COVID‐19 vaccination. Neurologists need to argue in the interest of their patients about the overwhelming individual and global benefits of COVID‐19 vaccination. Moreover, they need to keep on eye on this vulnerable patient group, its concerns, and the emergence of potential safety signals.
Phenotypical variability and atypical presentations in a French cohort of Andersen–Tawil syndrome
Authors: Villar‐Quiles Rocio Nur , Sternberg Damien , Tredez Grégoire , Beatriz Romero Norma , Evangelista Teresinha , Lafôret Pascal , Cintas Pascal , Sole Guilhem , Sacconi Sabrina , Bendahhou Said , Franques Jérôme , Cances Claude , Noury JB , Delmont Emilien , Blondy Patricia , Perrin Laurence , Hezode Marianne , Fournier Emmanuel , Fontaine Bertrand , Stojkovic Tanya , Vicart Savine
Published: April 2022

Background and purpose

Andersen–Tawil syndrome (ATS) is a skeletal muscle channelopathy caused by KCNJ2 mutations, characterized by a clinical triad of periodic paralysis, cardiac arrhythmias and dysmorphism. The muscle phenotype, particularly the atypical forms with prominent permanent weakness or predominantly painful symptoms, remains incompletely characterized.

Methods

A retrospective clinical, histological, electroneuromyography (ENMG) and genetic analysis of molecularly confirmed ATS patients, diagnosed and followed up at neuromuscular reference centers in France, was conducted.

Results

Thirty‐five patients from 27 unrelated families carrying 17 different missense KCNJ2 mutations (four novel mutations) and a heterozygous KCNJ2 duplication are reported. The typical triad was observed in 42.9% of patients. Cardiac abnormalities were observed in 65.7%: 56.5% asymptomatic and 39.1% requiring antiarrhythmic drugs. 71.4% of patients exhibited dysmorphic features. Muscle symptoms were reported in 85.7%, amongst whom 13.3% had no cardiopathy and 33.3% no dysmorphic features. Periodic paralysis was present in 80% and was significantly more frequent in men. Common triggers were exercise, immobility and carbohydrate‐rich diet. Ictal serum potassium concentrations were low in 53.6%. Of the 35 patients, 45.7% had permanent weakness affecting proximal muscles, which was mild and stable or slowly progressive over several decades. Four patients presented with exercise‐induced pain and myalgia attacks. Diagnostic delay was 14.4 ± 9.5 years. ENMG long‐exercise test performed in 25 patients (71.4%) showed in all a decremental response up to 40%. Muscle biopsy performed in 12 patients revealed tubular aggregates in six patients (associated in two of them with vacuolar lesions), dystrophic features in one patient and non‐specific myopathic features in one patient; it was normal in four patients.

Discussion

Recognition of atypical features (exercise‐induced pain or myalgia and permanent weakness) along with any of the elements of the triad should arouse suspicion. The ENMG long‐exercise test has a high diagnostic yield and should be performed. Early diagnosis is of utmost importance to improve disease prognosis.
Classification of antiseizure drugs in cultured neuronal networks using multielectrode arrays and unsupervised learning
Authors: Bryson Alexander , Mendis Dulini , Morrisroe Emma , Reid Christopher A. , Halgamuge Saman , Petrou Steven
Published: April 2022

Objective

Antiseizure drugs (ASDs) modulate synaptic and ion channel function to prevent abnormal hypersynchronous or excitatory activity arising in neuronal networks, but the relationship between ASDs with respect to their impact on network activity is poorly defined. In this study, we first investigated whether different ASD classes exert differential impact upon network activity, and we then sought to classify ASDs according to their impact on network activity.

Methods

We used multielectrode arrays (MEAs) to record the network activity of cultured cortical neurons after applying ASDs from two classes: sodium channel blockers (SCBs) and γ‐aminobutyric acid type A receptor‐positive allosteric modulators (GABA PAMs). A two‐dimensional representation of changes in network features was then derived, and the ability of this low‐dimensional representation to classify ASDs with different molecular targets was assessed.

Results

A two‐dimensional representation of network features revealed a separation between the SCB and GABA PAM drug classes, and could classify several test compounds known to act through these molecular targets. Interestingly, several ASDs with novel targets, such as cannabidiol and retigabine, had closer similarity to the SCB class with respect to their impact upon network activity.

Significance

These results demonstrate that the molecular target of two common classes of ASDs is reflected through characteristic changes in network activity of cultured neurons. Furthermore, a low‐dimensional representation of network features can be used to infer an ASDs molecular target. This approach may allow for drug screening to be performed based on features extracted from MEA recordings.
Physiological response of Miscanthus genotypes to salinity stress under elevated CO2
Authors: Liang Kehao , Peng Xiaoying , Liu Fulai
Published: April 2022

Miscanthus is a class of C4 perennial grasses, which can be cultivated on marginal land even with high salinity. However, the future environment may be altered by elevated atmospheric CO2 concentration ([CO2]) and knowledge is limited about the interactive impacts of CO2 enrichment and salinity on this C4 bioenergy crop. In this study, three Miscanthus genotypes (M. sacchariflorus, M. × giganteus, and M. lutarioriparius) were grown under either ambient (400 ppm) [CO2] (a[CO2]) or elevated (800 ppm) [CO2] (e[CO2]) at five salinity levels (0, 50, 100, 150, and 200 mm NaCl denoted as S0, S1, S2, S3, and S4, respectively), and the impacts of e[CO2] on plant physiological responses to salt stress were investigated. Our results suggested that e[CO2] had no obvious effect on net photosynthetic rate (An), but significantly reduced the stomatal conductance (gs), thus improving water use efficiency regardless of salinity levels. In addition, e[CO2] could improve water potential of plants under both control and saline conditions, but the magnitude of increase was highly genotypic dependent. The maximum quantum yield of photosystem II (Fv/Fm) was not altered by e[CO2], which, however, could alleviate the negative effect of salt on Fv/Fm. Furthermore, salt stress increased the concentration of abscisic acid (ABA) in xylem sap and leaves, while the effect of e[CO2] on ABA level was closely associated with genotypes. e[CO2] reduced Na+ concentration and had positive influences on maintaining Na+/K+ ratio, thus favoring ionic homeostasis, although such effect was genotype dependent. Collectively, our data suggested that e[CO2] could partially mitigate the detrimental effects of salinity, conferring higher salt tolerance of Miscanthus.
Comparing the effects of horse grazing alone or with cattle on horse parasitism and vegetation use in a mesophile pasture
Authors: Fleurance Géraldine , Sallé Guillaume , Lansade Léa , Wimel Laurence , Dumont Bertrand
Published: April 2022

Mixing different herbivore species is assumed to increase vegetation use because of the complementarity of their feeding choices and to reduce animal parasite burden through the dilution effect. Here, we compare the effects of mixed horse‐cattle grazing and monospecific horse grazing (1.4 LU/ha) on animal foraging behaviour, sward characteristics and horse parasitism in a mesophile grassland of central France. In both treatments, animals were stocked alternately on two subplots with rotation lengths between 15 and 21 days according to season. The horses quickly acclimated to the cattle, and very few agonistic interactions were observed between them. All the horses selected short (≤4 cm) and intermediate (5–8 cm) high‐quality regrowths and avoided reproductive and dead herbage areas contaminated by their faeces as a consequence of their latrine behaviour. Cattle, which are more constrained by plant height, selected intermediate and tall vegetative swards. However, the alternate stocking of animals also provided them with high‐quality regrowth on the shortest patches. Consequently, the cattle used these short patches proportionally to their availability while avoiding reproductive and dead herbage areas. We assume this limited their consumption of infective cyathostome larvae, which are concentrated close to horse dung. Moreover, co‐grazing horses and cattle did not reduce sward structural heterogeneity and thus did not enhance overall herbage quality. We conclude that rather than considering mixed grazing as a turn‐key solution, its management needs to be adapted to support the complementarity of horse and cattle dietary choices and thus provide the expected benefits of multi‐species grazing.
Working with style: Black women, black hair, and professionalism
Authors: Donahoo Saran
Published: April 2022

Focusing on Black women, this study considers hair as an element of professionalism. As with other elements of Black life, White culture and beauty norms influence the professional expectations placed on Black hair. Within this context, this study features responses from 22 Black women related to hairstyling when job searching, the influence that hair has on their work experiences, attempts by others to control their hair, and their efforts to wear the hairstyles of their choice in the workplace. Responses indicate that hair is an ever‐present issue for Black women as they look for and perform their assigned duties at work. Fear of negative professional outcomes and constant microagressions lead Black women to consider and even adopt hairstyles that emulate White beauty norms and professional expectations.
Pain, depression and anxiety in people with haemophilia from three Nordic countries: Cross‐sectional survey data from the MIND study
Authors: Steen Carlsson Katarina , Winding Bent , Astermark Jan , Baghaei Fariba , Brodin Elisabeth , Funding Eva , Holmström Margareta , Österholm Klaus , Bergenstråle Sofia , Andersson Emelie , Lethagen Stefan
Published: April 2022

Introduction

People with haemophilia (PwH) may experience symptoms of haemophilia‐related pain, depression or anxiety, which can negatively impact health‐related quality of life.

Aim

To obtain the perspective of PwH and treaters from Sweden, Finland and Denmark on the management of haemophilia‐related pain, depression and anxiety using cross‐sectional survey data from the MIND study (NCT03276130).

Methods

PwH or their caregivers completed a survey about experiences of pain, depression and anxiety related to haemophilia, and the standard EQ‑5D‐5L instrument. Five investigators at haemophilia treatment centres (HTC) were sent a complementary survey containing questions about the management of pain and depression/anxiety.

Results

There were 343 PwH (mild: 103; moderate: 53; severe: 180; seven lacking severity information) and 71 caregiver responses. Experience of pain in the last 6 months was reported by 50% of PwH respondents and 46% of caregiver respondents. Anxiety/depression was reported by 28% of PwH respondents. Reporting of pain and anxiety/depression was associated with disease severity. Whilst 62% of PwH who had experienced pain at any time point (n = 242) felt this was adequately addressed and treated at their HTC, only 24% of those who had experienced depression/anxiety (n = 127) felt this was adequately addressed. Disease severity was negatively associated with EQ‐5D‐5L utility value (p < .001). In the HTC survey, 4/5 and 2/5 agreed that pain and depression/anxiety, respectively, are adequately addressed.

Conclusions

Pain and depression/anxiety occur more frequently with increasing haemophilia severity, with negative impacts on health‐related quality of life. PwH with depression/anxiety or unaddressed pain could benefit from improved management strategies.
Molecular and immunohistochemical characterisation of mesothelioma of the tunica vaginalis*
Authors: Anderson William J , Sholl Lynette M , Fletcher Christopher D M , Schulte Stephanie , Wang Li Juan , Maclean Fiona M , Hirsch Michelle S
Published: April 2022

Aims

Malignant mesothelioma (MM) of the tunica vaginalis (TV) is a rare and aggressive tumour, and the molecular features and staining profile with contemporary immunohistochemical (IHC) biomarkers are largely unexplored. We characterise the clinicopathological, molecular and IHC features of MM (n = 13) and mesothelial neoplasms of uncertain malignant potential (MUMP) (n = 4).

Methods and results

Targeted next‐generation sequencing was performed on seven MMs and two MUMPs. IHC was performed for methylthioadenosine phosphorylase (MTAP), BRCA1‐associated protein 1 (BAP1) and SRY‐box transcription factor 6 (SOX6). Thirteen adenomatoid tumours were also assessed with SOX6. MM were epithelioid (seven of 13) or biphasic (six of 13). In MM, NF2 (five of seven; 71%), CDKN2A (three of seven; 43%) and BAP1 (two of seven; 29%) were most frequently altered. Non‐recurrent driver events were identified in PTCH1 and TSC1. In contrast, none of these alterations were identified in MUMPs; however, one MUMP harboured a TRAF7 missense mutation. By IHC, loss of MTAP (two of 12; 17%) and BAP1 (two of nine; 22%) was infrequent in MM, whereas both were retained in the MUMPs. SOX6 was positive in nine of 11 (82%) MMs and negative in all MUMPs and adenomatoid tumours.

Conclusions

Testicular MM exhibit a similar mutational profile to those of the pleura/peritoneum; however, alterations in CDKN2A and BAP1 are less common. These findings suggest that although MTAP and BAP1 IHC are specific for MM, their sensitivity in testicular MMs appears lower. In addition, rare tumours may harbour targetable alterations in driver genes (PTCH1 and TSC1) that are unusual in MMs at other anatomical sites. SOX6 is sensitive for MM; accordingly, the presence of SOX6 expression argues against a benign neoplastic process.
Landscape and climatic predictors of Kentish Plover (Charadrius alexandrinus) distributions throughout Kazakhstan
Authors: Mcdonald Grant C. , Bede‐Fazekas Ákos , Ivanov Anton , Crecco Lorenzo , Székely Tamás , Kosztolányi András
Published: April 2022

Worldwide populations of shorebirds are declining, associated with a complex interplay of climate change, predation, human disturbance and habitat degradation. Comprehensive information on the distribution and breeding ecology of shorebird populations is crucial to understand and mitigate these threats. Kazakhstan, the largest country in Central Asia, comprises multiple flyways and breeding habitats for shorebird species, including the Kentish Plover Charadrius alexandrinus, but information on the population size and breeding distribution of shorebird species in the region is highly limited. We conducted a wide‐scale survey of Kentish Plover across Kazakhstan during the breeding season and utilize species distribution modelling to outline key anthropogenic and environmental variables that determine Kentish Plover presence. Our results reveal widespread distribution of Kentish Plovers across Kazakhstan but indicate that breeding densities are generally low. Our distribution modelling stresses the primary importance of proximity to water bodies and climate as the main predictors of Kentish Plover presence, but reveals a weak association with indicators of human disturbance. We utilize our distribution modelling to provide the first quantitative estimate of the breeding population size of Kentish Plover in Kazakhstan, which indicates a modest number of individuals given the size of the country (between 12 000 and 32 000 individuals). Our results indicate the key routes via which climate change may impact on population‐level distributions of Kentish Plover and provide a platform for future studies investigating species distributions across similarly vast and inaccessible regions.
Three decades of halal food scholarly publications: A PubMed bibliometric network analysis
Authors: Mostafa Mohamed M.
Published: April 2022

Halal food research has witnessed a distinct proliferation during the past decade. In this article, we examine the intellectual structure of the field based on 302 PubMed documents written by 686 authors representing 45 nations and spanning 30 years (1990–2019). The study applies bibliometric network techniques to explore the halal food impactful authors, influential journals, collaboration networks and emerging trends. Social network analysis (SNA) techniques are also used to unearth and mine the intellectual structure of the field. Additionally, we use keyword co‐occurrence techniques to scrutinize the field's major schools of thought. Results show that the most impactful PubMed outlets publishing halal food research include Food Chemistry, Meat Science, and the Journal of the Science of Food and Agriculture. Results also show that the authors' collaboration network in halal food is sparse. Furthermore, results reveal a global “North–South” schism between nations within the domain. Finally, the multiple correspondence analysis (MCA) applied to obtain the halal food research conceptual map and its intellectual structure reflects the depth and breadth of the field.
Characterisation of hydrogels and aerogels as carriers for sea buckthorn pomace extract
Authors: Švermickaitė Greta , Eisinaitė Viktorija , Vinauskienė Rimantė , Jasutienė Ina , Leskauskaitė Daiva
Published: April 2022

In this study, aerogels were prepared from kognac glucomannan (KG) or whey proteins loaded with bioactive sea buckthorn pomace extract. KG was diacetylated with Na2CO3 (0.1; 0.2; 0.3; 0.4 m) resulting hydrogel formation that were further freeze‐dried to obtain an aerogel structure. Whey protein aerogels were prepared by removing pore fluid from alcogels using supercritical CO2 drying. Produced aerogels evaluated for microstructure, porosity, specific surface area, absorption capacity, encapsulation efficiency and antioxidant capacity of the extract. It was found that higher concentration of alkali induced higher hardness, resilience and elastic modulus values. It was also obtained that pores in the konjac glucomannan aerogels were irregular in shape and a decrease in total pore volume (0.026 to 0.019 cc/g) and surface area (12.39 to 11.40 m2/g) after increasing the carbonate concentration was observed. These aerogels were found to have better encapsulation efficiency properties for sea buckthorn pomace extract (17 to 20%) in comparison to whey protein aerogels (0.05 to 0.36%). Overall, the KG aerogels show potential for applications in the food industry as a carrier of bioactive sea buckthorn pomace extract, while whey proteins must be used in combination with other biopolymers to enhance their bioactive compound loading capacity.
Effect of vacuum packaging on shelf‐life extension of cooked and peeled harpiosquillid mantis shrimp (Harpiosquilla raphidea) during refrigerated storage
Authors: Temdee Wattana , Singh Avtar , Zhang Bin , Benjakul Soottawat
Published: April 2022

Effects of vacuum packaging (VP) on quality changes of cooked and peeled harpiosquillid mantis shrimp (HMS) during storage at 4 °C of 15 days were investigated. VP inhibited bacterial growth as ascertained by the lower rate of increases in total viable and psychrotrophic bacteria counts as well as other pathogenic and spoilage bacteria counts. VP samples had lower total volatile base and trimethylamine contents as compared to the sample packed in air (AP). Clostridium perfringens was undetectable in both samples. During storage, VP samples possessed lower pH than AP counterpart. Exudate and TCA‐soluble peptide (TSP) contents of sample increased during the storage, regardless of packaging atmospheres. Fatty acid (FA) content, especially PUFA and MUFA, was decreased after 9 and 15 days of storage for AP and VP samples, respectively. The cooked and peeled HMS contained 32 volatile organic compounds, consisting of several aldehydes and alcohols. Carnobacterium and Pseudomonas were mainly involved in spoilage in samples as confirmed by next generation sequencing.
Lactobacillus plantarum ZLC‐18 fermentation improve tyrosinase inhibition activity and antioxidant capacity in soybean hulls
Authors: Xu Hanxue , Sun Jinwei , Zhao Zifu , Ma Xinkai , Li Chun , Liu Libo , Zhang Guofang
Published: April 2022

Soybean hulls, the main byproduct in soybean processing, have many biological activities. However, the value of this byproduct is still far from being fully exploited. In this study, we investigated the anti‐tyrosinase and antioxidant capacities in soybean hulls fermented by Lactobacillus plantarum ZLC‐18 (L. plantarum ZLC‐18). We found that L. plantarum ZLC‐18 fermentation could markedly improve the anti‐tyrosinase and antioxidant activities of soybean hulls. The anti‐tyrosinase and antioxidant activities were positively correlated with the total phenolic and flavonoid contents. UPLC–MS analysis suggested that phenolic compounds (daidzin, genistin, vanillic acid and so on) were increased in soybean hulls after fermentation, and some of these compounds were shown to have anti‐tyrosinase and antioxidant activities. Our study demonstrates that fermentation is an efficient strategy to enhance the bioactive function of soybean hulls. Moreover, this study provides evidence that soybean hulls can be used as a kind of functional food ingredient, thereby improving their economic benefits.
Effects of different polarity of onion skin extracts on antioxidative properties and non‐volatile profiles
Authors: Hong JiHee , Lee YoonHee , Kim Mi‐Ja , Lee JaeHwan
Published: April 2022

Onion skins are agricultural by‐products that contain high levels of antioxidants, including quercetin and protocatechuic acid. The solubility of extracts can affect their antioxidant capacity in food oil matrices. The antioxidative properties of onion skin extracts with different polarity were compared and the chemical profiles of the extracts were identified by GC‐MS. Highly lipophilic, moderately hydrophilic and highly hydrophilic onion skin extracts (HLE, MHE and HHE, respectively) were prepared and their antioxidant properties were tested using in vitro assays and bulk oil or oil‐in‐water (O/W) emulsions. The most abundant phenolic compounds in the onion skin extracts were quercetin and protocatechuic acid. The lipophilicity levels of HLE, MHE and HHE were 0.674, 0.394 and −1.225, respectively. HLE showed higher antioxidant capacity in bulk oil and O/W emulsion matrices compared to MHE and HHE. The antioxidant capacity of HLE was higher in the O/W emulsion than in the bulk oil system. Therefore, highly lipophilic onion skin extracts can be used as effective natural antioxidants in oil matrices, especially O/W emulsions.