bluuebunny/crossref_metadata_2025 huggingface dataset:
Pain in recessive dystrophic epidermolysis bullosa (RDEB): findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES)
Authors: Jeffs Eunice , Pillay Elizabeth I. , Ledwaba-Chapman Lesedi , Bisquera Alessandra , Robertson Susan J. , McGrath John A. , Wang Yanzhong , Martinez Anna E. , Mellerio Jemima E.
Published: October 2024

Background

Pain is common in the genetic skin fragility disorder epidermolysis bullosa (EB), from skin and mucosal injury and inflammation as well as extra-mucocutaneous sites. Individuals living with EB have identified pain as a priority for better treatments.

Objectives

The Prospective EB Longitudinal Evaluation Study (PEBLES) is a prospective register study exploring the natural history of RDEB across all ages from birth to death. Here, we investigated the characteristics and treatment of pain in different RDEB subtypes.

Methods

Information was collected from individuals with different RDEB subtypes over an 8-year period. Data included visual analogue scale (VAS) ratings of background and procedural pain, its location, intensity and impact on sleep, as well as pain medication. Disease severity scores and quality of life measures were correlated to pain scores.

Results

Sixty-one participants (13 children, 48 adults) completed a total of 361 reviews. Pain was common, experienced by 93% of participants at index review, with 80% suffering both background and procedural pain. Across all RDEB patients, the median VAS for background pain was 40 (out of 100) [interquartile range 20,60] and for those having regular dressing changes, median procedural pain was 52 [40,80]. Severe (RDEB-S) and pruriginosa (RDEB-Pru) groups had the greatest increase in procedural compared to background pain of 20 and 22 VAS points, respectively. Correlations between disease severity and quality of life impairment were observed across most groups, particularly RDEB-S. Over half of those studied experienced pain frequently or constantly, and in one third pain disturbed sleep at least 4 nights per week. Skin was the commonest source of pain in all subtypes except inversa RDEB where the mouth was the main site. Despite frequent and severe pain, one third of participants used no medication for pain and, in those that did, pain levels remained high suggesting ineffectiveness of current pain management approaches and a significant unmet need in RDEB.

Conclusion

The frequency, severity, and impact of pain in all RDEB patients is significant, particularly in RDEB-S and RDEB-Pru. Our findings highlight that current RDEB pain management is poorly effective and that further research is needed to address this symptom.
Isolated and multiple causes of equine dystocia
Authors: Ellerbrock Markus , Krohn Judith , Büttner Kathrin , Wehrend Axel
Published: October 2024

Background

Dystocia is rare in horses, but is life-threatening for mares and foals. Therefore, veterinary research depends on up-to-date data to optimise equine dystocia management. In addition, knowledge of the prognosis of equine dystocia is necessary to advise animal owners. This retrospective study of equine dystocia aimed to enrich existing datasets with up-to-date information. For the first time, the focus was on the causes of dystocia that occurred alone or in combination. Over a period of 10 years, 72 cases of dystocia were analysed using a standardised, predetermined diagnosis code.

Results

Of the 72 cases of dystocia, an isolated cause of dystocia was identified in 37 cases (51.4%) and 35 mares showed a combination of two or more causes (48.6%). Foetal causes were significantly more frequent origin of dystocia (66/69) than maternal causes (3/66) (P < 0.0001). Incorrect posture of the foetal forelimbs and head was the most common combination at 25.7%. The most common isolated cause of dystocia was incorrect posture of the foetal forelimbs (18.9%). A foetotomy was performed in 68% of cases. A caesarean section or an extraction was performed in 13.9% of the cases. Three mares died before any obstetric care was provided. Nine mares (12.5%) were not discharged alive. 73 foals were delivered of which 55 were already dead before veterinary treatment began. In relation to the total number of births in which the foetus was alive at the start of obstetric care, the foetal mortality rate was 61.1% and 88.9% by the time the mare was discharged.

Conclusions

It has been demonstrated for the first time that multiple causes of dystocia in horses are almost as common as isolated causes of dystocia. Neonatal mortality remains high, indicating that the timely detection and treatment of dystocia has the highest priority.
Prediction of allograft function in pre-transplant kidneys using sound touch elastography (STE): an ex vivo study
Authors: Pan Fu-shun , Yang Dao-peng , Zhao Guo-dong , Huang Shu-qi , Wang Yan , Xu Ming , Qiu Jiang , Zheng Yan-ling , Xie Xiao-yan , Huang Gang
Published: October 2024

Background

The purpose of the study was to evaluate renal quality and predict posttransplant graft function using ex vivo sound touch elastography (STE).

Methods

In this prospective study, 106 donor kidneys underwent ex vivo STE examination and biopsy from March 2022 to August 2023. The mean stiffness of the superficial cortex (STEsc), deep cortex (STEdc), and medulla (STEme) was obtained and synthesized into one index (STE) through the factor analysis method. Additionally, 100 recipients were followed up for 6 months. A random forest algorithm was employed to explore significant predictive factors associated with the Remuzzi score and allograft function. The performance of parameters was evaluated by using the area under the receiver operating characteristic curve (AUC).

Results

STE had AUC values of 0.803 for diagnosing low Remuzzi and 0.943 for diagnosing high Remuzzi. Meanwhile, STE had an AUC of 0.723 for diagnosing moderate to severe ATI. Random forest algorithm identified STE and Remuzzi score as significant predictors for 6-month renal function. The AUC for STE in predicting postoperative allograft function was 0.717, which was comparable with that of the Remuzzi score (AUC = 0.756). Nevertheless, the specificity of STE was significantly higher than that of Remuzzi (0.913 vs 0.652, p < 0.001). Given these promising results, donor kidneys can be transplanted directly without the need for biopsy when STE ≤ 11.741.

Conclusions

The assessment of kidney quality using ex vivo STE demonstrated significant predictive value for the Remuzzi score and allograft function, which could help avoid unnecessary biopsy.

Critical relevance statement

Pre-transplant kidney quality measured with ex vivo STE can be used to assess donor kidney quality and avoid unnecessary biopsy.

Key Points

STE has significant value for diagnosing low Remuzzi and high Remuzzi scores.

STE achieved good performance in predicting posttransplant allograft function.

Assessment of kidney quality using ex vivo STE could avoid unnecessary biopsies.

Graphical Abstract
A convolutional neural network to optimize multi-mission satellite altimeter fusion for improving the marine gravity field
Authors: Li Qianqian , Zhai Zhenhe , Bao Lifeng , Wang Yong , Wu Lin , Mao Guocheng , Sun Heping
Published: October 2024

Satellite altimetry is the main tool for constructing global or regional marine gravity fields. To improve the accuracy and spatial resolution, it is necessary to fuse multi-mission altimeters. How to determine the weights of multi-mission altimeters is a crucial issue, making the conventional calculation process very complex. In addition, traditional satellite inversion methods are often independent of shipborne gravity, which is used only as validation data, thus not take full advantages of high accuracy and resolution of shipborne gravity. In this study, we introduce a convolutional neural network (CNN) to merge the vertical deflections (DOVs) obtained from multi-altimeter missions to construct a marine gravity model in the South China Sea. High-accuracy shipborne gravity and a dataset comprising DOVs and geo-locations are employed as input data for neural network training. For the validation of CNN method, the gravity model is also computed by conventional Inverse Vening Meinesz (IVM) method. Independent shipborne gravity measurements and SIO V32.1, DTU17 models are used as validation data. The evaluation results show that the CNN-derived model achieves a higher level of accuracy, yielding a standard deviation (STD) of 3.21 mGal, with an improvement of 36.56% compared to IVM-derived model. More than 92% of the differences between the CNN-derived model and shipborne gravity are less than 5 mGal. In addition, spectral analysis results further show that the CNN-derived model has stronger energy at short wavelengths (less than 25 km) compared to other models. These findings reveal that CNN method is feasible for marine gravity recovery and the CNN-derived model can achieve higher accuracy. The CNN method can improve the accuracy and spectral characteristics of the constructed gravity model by taking advantage of the high accuracy and high resolution of shipborne gravity.

Graphical Abstract
Multimodal apparent diffusion MRI model in noninvasive evaluation of breast cancer and Ki-67 expression
Authors: Chang Huan , Chen Jinming , Wang Dawei , Li Hongxia , Ming Lei , Li Yuting , Yu Dan , Yang Yu Xin , Kong Peng , Jia Wenjing , Yan Qingqing , Liu Xinhui , Zeng Qingshi
Published: October 2024

Background

To assess the capability of multimodal apparent diffusion (MAD) weighted magnetic resonance imaging (MRI) to distinguish between malignant and benign breast lesions, and to predict Ki-67 expression level in breast cancer.

Methods

This retrospective study was conducted with 93 patients who had postoperative pathology-confirmed breast cancer or benign breast lesions. MAD images were acquired using a 3.0 T MRI scanner with 16 b values. The MAD parameters, as flow (fF, DF), unimpeded (fluid) (fUI), hindered (fH, DH, and αH), and restricted (fR, DR), were calculated. The differences of the parameters were compared by Mann–Whitney U test between the benign/malignant lesions and high/low Ki-67 expression level. The diagnostic performance was assessed by the area under the receiver operating characteristic curve (AUC).

Results

The fR in the malignant lesions was significantly higher than in the benign lesions (P = 0.001), whereas the fUI and DH were found to be significantly lower (P = 0.007 and P < 0.001, respectively). Compared with individual parameter in differentiating malignant from benign breast lesions, the combination parameters of MAD (fR, DH, and fUI) provided the highest AUC (0.851). Of the 73 malignant lesions, 42 (57.5%) were assessed as Ki-67 low expression and 31 (42.5%) were Ki-67 high expression. The Ki-67 high status showed lower DH, higher DF and higher αH (P < 0.05). The combination parameters of DH, DF, and αH provided the highest AUC (0.691) for evaluating Ki-67 expression level.

Conclusions

MAD weighted MRI is a useful method for the breast lesions diagnostics and the preoperative prediction of Ki-67 expression level.
Dimensional models of personality and a multidimensional framework for treating personality pathology
Authors: Natoli Adam P. , Murdock Jacy G. , Merguie Jules L. , Hopwood Christopher J.
Published: October 2024

The categorisation of personality pathology into discrete disorders has been an enduring standard. However, dimensional models of personality are becoming increasingly prominent, in part owing to their superior validity and clinical utility. We contend that dimensional models also offer a unique advantage in treating mental illness. Namely, psychotherapy approaches and the components of dimensional models of personality can both be arranged hierarchically, from general to specific factors, and aligning these hierarchies provides a sensible framework for planning and implementing treatment. This article begins with a brief review of dimensional models of personality and their supporting literature. We then outline a multidimensional framework for treatment and present an illustrative fictitious clinical case before ending with recommendations for future directions in the field.
Clinical characteristics and suicidal ideation as predictors of suicide: prospective study of 1000 referrals to general adult psychiatry
Authors: Hayward David , Johnston Blair , MacIntyre Donald J. , Steele Douglas
Published: October 2024

Aims and method

Questions often follow the suicide of someone who presented to general adult psychiatry (GAP) when expressing suicidal thoughts: ‘Why were they not admitted, or managed differently, when they said they were suicidal?’ Answering these questions requires knowledge of the prevalence of suicidal ideation in patients presenting to GAP. Therefore, we determined the general clinical characteristics, including suicidal ideation, of a large sample of patients presenting to a GAP emergency assessment service or referred as non-emergencies to a GAP service.

Results

Suicidal ideation was very common, being present in 76.4% of emergency presentations and 33.4% of non-emergency referrals. It was very weakly associated with suicide, varied between different diagnostic categories, and previous assessment by GAP did not appear to affect it. The suicide rate during the contingent episode of care was estimated as 66 per 100 000 episodes.

Clinical implications

This, and other evidence, shows that suicide cannot be predicted with an accuracy that is useful for clinical decision-making. This is not widely appreciated but has serious consequences for patients and healthcare resources.
Functional neurological disorder in pregnancy, labour and the postpartum period: systematic review
Authors: Cabreira Verónica , McLoughlin Caoimhe , Shivji Natasha , Lodge Alexandra , Rhijn Sanne Van , Keynejad Roxanne C. , Coebergh Jan , Carson Alan , Stone Jon , Lehn Alex , Hoeritzauer Ingrid
Published: October 2024

Aims and method

Functional neurological disorder (FND) most often presents in women of childbearing age, but little is known about its course and outcomes during pregnancy, labour and postpartum (the perinatal period). We searched MEDLINE, PsycInfo and Embase combining search terms for FND and the perinatal period. We extracted data on patient demographics, subtype of FND, timing of symptom onset, comorbidities, medications, type of delivery, investigations, treatment, pregnancy outcomes and FND symptoms at follow-up.

Results

We included 36 studies (34 case reports and 2 case series) describing 43 patients. Six subtypes of FND were identified: functional (dissociative) seizures, motor weakness, movement disorder, dissociative amnesia, speech disorders and visual symptoms. New onset of perinatal FND was more common in the third trimester and onwards. Some women with functional seizures were exposed to unnecessary anti-seizure prescriptions and intensive care admissions.

Clinical implications

Prospective studies are urgently needed to explore how FND interacts with women's health in the perinatal period.
Association between sleep duration from midlife to late life and the risk of depressive symptoms: the Singapore Chinese Health Study
Authors: Li Huiqi , Tai Bee Choo , Pan An , Koh Woon-Puay
Published: October 2024

Background

The prospective association between sleep duration and the development of late-life depressive symptomology is unclear.

Aims

To investigate sleep duration from midlife to late life in relation to risk of depressive symptoms in late life.

Method

A total of 14 361 participants from the Singapore Chinese Health Study were included in the present study. Daily sleep duration was self-reported at baseline (mean age of 52.4 years; 1993–98), follow-up 2 (mean age of 65.2 years; 2006–10) and follow-up 3 (mean age of 72.5 years; 2014–16) interviews. Depressive symptoms were evaluated using the Geriatric Depression Scale at follow-up 3 interviews. Modified Poisson regression models were performed to estimate relative risks and 95% confidence intervals of late-life depressive symptoms in relation to sleep duration at baseline and the two follow-up interviews.

Results

Compared with sleeping 7 h per day, a short sleep duration of ≤5 h per day at baseline (i.e. midlife) was related to a higher risk of depressive symptoms (relative risk 1.10, 95% CI 1.06–1.15), and this risk was not affected by subsequent prolongation of sleep. Conversely, a long sleep duration of ≥9 h per day at baseline was not related to risk of depressive symptoms. At follow-up 3 (i.e. late life), both short sleep (relative risk 1.20, 95% CI 1.16–1.25) and long sleep (relative risk 1.12, 95% CI 1.07–1.18) duration were cross-sectionally associated with depressive symptoms.

Conclusion

Short sleep duration in midlife, regardless of subsequent prolongation, is associated with an increased risk of depression in late life. Contrariwise, both short and long sleep duration in late life co-occur with depressive symptoms.
Disease trajectories before dementia: evidence from a large-scale community-based prospective study
Authors: Li Jialin , Xia Ding , Cui Mei , Wang Yingzhe , Li Jincheng , Jin Li , Chen Xingdong , Suo Chen , Jiang Yanfeng
Published: October 2024

Background

Systemic changes in multiple diseases may influence the onset of dementia. However, the specific temporality between exposure diseases and dementia remains uncertain.

Aims

By characterising the full spectrum of temporal disease trajectories before dementia, this study aims to yield a global picture of precursor diseases to dementia and to provide detailed instructions for risk management and primary prevention of dementia.

Method

Using the multicentre, community-based prospective UK Biobank, we constructed disease trajectories before dementia utilising the phenome-wide association analysis, paired directional test and association quantification. Stratified disease trajectories were constructed by dementia subtypes, gender, age of diagnosis and Apolipoprotein E (ApoE) status, respectively.

Results

Our study population comprised 434 266 participants without baseline dementia and 4638 individuals with all-cause dementia. In total, 1253 diseases were extracted as potential components of the disease trajectory before dementia. We identified three clusters of disease trajectories preceding all-cause dementia, initiated by circulatory, metabolic and respiratory diseases occurring approximately 5–15 years before dementia. Cerebral infarction or chronic renal failure following chronic ischaemic heart disease was the specific trajectory before vascular dementia. Apolipoprotein E (ApoE) ε4 non-carriers exhibited more complex trajectories compared with carriers. Lipid metabolism disorders remained in the trajectories regardless of dementia subtypes, gender, age of diagnosis and ApoE status.

Conclusions

This study provides a comprehensive view of the longitudinal disease trajectories before dementia and highlights the potential targets of midlife cardiometabolic dysfunction for dementia screening and prevention.
Quality of Treatment Selection for Medicare Beneficiaries With Cancer
Authors: Mitchell Aaron P. , Persaud Sonia , Mishra Meza Akriti , Fuchs Hannah E. , De Prabal , Tabatabai Sara , Chakraborty Nirjhar , Dey Pranam , Trivedi Niti U. , Mailankody Sham , Blinder Victoria , Green Angela , Epstein Andrew S. , Daly Bobby , Roeker Lindsey , Bach Peter B. , Gönen Mithat
Published: October 2024

PURPOSE

The Medicare part D Low-Income Subsidy (LIS) improves access to oral cancer drugs, but provides no assistance for clinician-administered/part B drugs. This analysis assessed the association between LIS participation and receipt of optimal cancer treatment.

METHODS

We investigated initial systemic therapy using SEER-Medicare data (2015-2017) and National Comprehensive Cancer Network (NCCN) Evidence Blocks (EB) as the standard for treatment recommendations. We included cancer clinical scenarios wherein (1) ≥one treatment was optimal (higher efficacy and safety scores) versus other treatments; (2) identifiable in SEER-Medicare (eg, not defined by clinical data unavailable in registry data or claims); and (3) both EB and ASCO Value Framework agreed regarding optimal treatment. We fit logistic regression models to assess the association between receipt of systemic therapy (
v
no therapy) and patient and provider characteristics. Contingent on receipt of treatment, we modeled the likelihood of receiving a treatment ranked (by EB scores) within the highest or lowest quartile for that cancer type.

RESULTS

Nine thousand two hundred and ninety patients were included across 11 clinical scenarios. Fifty-seven percent (5,336) of patients received any systemic therapy and 43% (3,954) received no systemic therapy. Compared with non-LIS participants, LIS participants were less likely to receive any systemic therapy versus no systemic therapy (odds ratio, 0.64 [95% CI, 0.57 to 0.72]). Contingent on receiving systemic therapy, LIS participants received treatment ranked within the worst quartile 24.8% of the time, compared with 21.9% of non-LIS patients (adjusted prevalence difference, 4.3% [95% CI, 0.5 to 8.2]).

CONCLUSION

LIS participants were less likely to receive systemic therapy at all and were more likely to receive treatments that receive low NCCN EB scores.
5-Hydroxymethylated Biomarkers in Cell-Free DNA Predict Occult Colorectal Cancer up to 36 Months Before Diagnosis in the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial
Authors: West-Szymanski Diana C. , Zhang Zhou , Cui Xiao-Long , Kowitwanich Krissana , Gao Lu , Deng Zifeng , Dougherty Urszula , Williams Craig , Merkle Shannon , He Chuan , Zhang Wei , Bissonnette Marc
Published: October 2024

PURPOSE

Using the prostate, lung, colorectal, and ovarian (PLCO) Cancer Screening Trial samples, we identified cell-free DNA (cfDNA) candidate biomarkers bearing the epigenetic mark 5-hydroxymethylcytosine (5hmC) that detected occult colorectal cancer (CRC) up to 36 months before clinical diagnosis.

MATERIALS AND METHODS

We performed the 5hmC-seal assay and sequencing on ≤8 ng cfDNA extracted from PLCO study participant plasma samples, including n = 201 cases (diagnosed with CRC within 36 months of blood collection) and n = 401 controls (no cancer diagnosis on follow-up). We conducted association studies and machine learning modeling to analyze the genome-wide 5hmC profiles within training and validation groups that were randomly selected at a 2:1 ratio.

RESULTS

We successfully obtained 5hmC profiles from these decades-old samples. A weighted Cox model of 32 5hmC-modified gene bodies showed a predictive detection value for CRC as early as 36 months before overt tumor diagnosis (training set AUC, 77.1% [95% CI, 72.2 to 81.9] and validation set AUC, 72.8% [95% CI, 65.8 to 79.7]). Notably, the 5hmC-based predictive model showed comparable performance regardless of sex and race/ethnicity, and significantly outperformed risk factors such as age and obesity (assessed as BMI). Finally, when splitting cases at median weighted prediction scores, Kaplan-Meier analyses showed significant risk stratification for CRC occurrence in both the training set (hazard ratio, [HR], 3.3 [95% CI, 2.6 to 5.8]) and validation set (HR, 3.1 [95% CI, 1.8 to 5.8]).

CONCLUSION

Candidate 5hmC biomarkers and a scoring algorithm have the potential to predict CRC occurrence despite the absence of clinical symptoms and effective predictors. Developing a minimally invasive clinical assay that detects 5hmC-modified biomarkers holds promise for improving early CRC detection and ultimately patient outcomes.
Fully Automated Artificial Intelligence Solution for Human Epidermal Growth Factor Receptor 2 Immunohistochemistry Scoring in Breast Cancer: A Multireader Study
Authors: Krishnamurthy Savitri , Schnitt Stuart J. , Vincent-Salomon Anne , Canas-Marques Rita , Colon Eugenia , Kantekure Kanchan , Maklakovski Marina , Finck Wilfrid , Thomassin Jeanne , Globerson Yuval , Bien Lilach , Mallel Giuseppe , Grinwald Maya , Linhart Chaim , Sandbank Judith , Vecsler Manuela
Published: October 2024

PURPOSE

The proven efficacy of human epidermal growth factor receptor 2 (HER2) antibody-drug conjugate therapy for treating HER2-low breast cancers necessitates more accurate and reproducible HER2 immunohistochemistry (IHC) scoring. We aimed to validate performance and utility of a fully automated artificial intelligence (AI) solution for interpreting HER2 IHC in breast carcinoma.

MATERIALS AND METHODS

A two-arm multireader study of 120 HER2 IHC whole-slide images from four sites assessed HER2 scoring by four surgical pathologists without and with the aid of an AI HER2 solution. Both arms were compared with high-confidence ground truth (GT) established by agreement of at least four of five breast pathology subspecialists according to ASCO/College of American Pathologists (CAP) 2018/2023 guidelines.

RESULTS

The mean interobserver agreement among GT pathologists across all HER2 scores was 72.4% (N = 120). The AI solution demonstrated high accuracy for HER2 scoring, with 92.1% agreement on slides with high confidence GT (n = 92). The use of the AI tool led to improved performance by readers, interobserver agreement increased from 75.0% for digital manual read to 83.7% for AI-assisted review, and scoring accuracy improved from 85.3% to 88.0%. For the distinction of HER2 0 from 1+ cases (n = 58), pathologists supported by AI showed significantly higher interobserver agreement (69.8% without AI
v
87.4% with AI) and accuracy (81.9% without AI
v
88.8% with AI).

CONCLUSION

This study demonstrated utility of a fully automated AI solution to aid in scoring HER2 IHC accurately according to ASCO/CAP 2018/2023 guidelines. Pathologists supported by AI showed improvements in HER2 IHC scoring consistency and accuracy, especially for distinguishing HER2 0 from 1+ cases. This AI solution could be used by pathologists as a decision support tool for enhancing reproducibility and consistency of HER2 scoring and particularly for identifying HER2-low breast cancers.
Gestational Diabetes: An Update 60 Years After O’Sullivan and Mahan
Authors: McIntyre Harold David , Kampmann Ulla , Dalsgaard Clausen Tine , Laurie Josephine , Ma Ronald Ching Wan
Published: October 2024

Sixty years after the landmark publication by O'Sullivan and Mahan, the current paper seeks to review and place into context the importance of gestational diabetes (GDM) both as a marker of increased risk of adverse maternal and fetal pregnancy outcomes and as an indicator of future maternal and infant health risks. We review the evolution of GDM as a diagnosis, the ongoing debate regarding diagnostic approaches, the underlying pathophysiology, and the epidemiology and the importance of GDM in the context of the global epidemics of diabetes and obesity. Focusing on clinical management, we review lifestyle-based therapy and pharmacotherapy for GDM, consider obstetric management, and outline the short-term and lifelong health risks posed by a GDM diagnosis.
Psychiatric Comorbidities in Women With Complete Androgen Insensitivity Syndrome or Müllerian Duct Aplasia/Agenesis
Authors: Sorouri Khorashad Behzad , Kaabi Oumaima , Gardner Melissa D , Getahun Darios , Goodman Michael , Lash Timothy L , Lee Peter A , McCracken Courtney , May Joshua , Muzik Maria , Vupputuri Suma , Yacoub Rami , Sandberg David E
Published: October 2024

Context

Understanding mental health issues facing individuals with disorders/differences of sex development (DSD) is crucial for optimizing evidence-based practices in this population.

Objectives

This work aimed to compare the prevalence of psychiatric diagnoses among patients diagnosed with complete androgen insensitivity syndrome (CAIS) or müllerian duct aplasia/agenesis (MA) to male and female reference groups.

Methods

A retrospective cohort study was conducted among 3 large integrated health systems. Participants included all individuals with confirmed CAIS or MA enrolled in 1 of 3 Kaiser Permanente health-care systems between January 1, 1988, and January 31, 2017. For each DSD patient, age-, race/ethnicity- and health system–matched male and female referents with typical sex development were randomly selected. Outcome measurements were mental health diagnoses and use of psychiatric medications.

Results

The prevalence of anxiety and depressive disorders in the CAIS and MA cohorts was approximately twice as high as in male referents without DSD, but the corresponding differences relative to female referents were less evident. A subgroup of MA patients with uterine agenesis had a higher prevalence of bipolar disorder than either reference group, but these results were accompanied by wide CIs. Women with CAIS and MA more frequently filled psychiatric medications compared to male but not female referents.

Conclusion

On balance, these findings are reassuring, albeit requiring confirmation in other settings. Future studies using longitudinal designs and patient-reported outcomes are needed to evaluate changes in mental health status of CAIS and MA patients at different ages and different intervals following initial diagnosis.
Scoring System Assessing Risks of Growth in Sporadic Vestibular Schwannoma
Authors: Stastna Daniela , Macfarlane Robert , Axon Patrick , Mannion Richard , Donnelly Neil , Tysome James R. , Mathews Rajeev , Guilfoyle Mathew , Borsetto Daniele , Jayapalan Ronie , Lawes Indu , Buttimore Juliette , Bance Manohar
Published: October 2024

BACKGROUND AND OBJECTIVES:

Surveillance studies offer sparse knowledge of predictors of future growth in sporadic vestibular schwannomas (VS).

Our aim was identification of these risk factors. We propose a scoring system to estimate the risk of growth in sporadic vestibular schwannoma.

METHODS:

This retrospective study is based on the demographic and radiological data of 615 adult patients under the surveillance for single VS in our center. Univariate analysis, multivariate regression, and Kaplan–Meier analysis were used when appropriate. The regression coefficient-based “VS score” was calculated based on Cox proportional-hazards regression.

RESULTS:

During surveillance, 285 tumors (46%) remained stable, 314 tumors (51%) grew, and 16 tumors (3%) shrank. The significant risks factors for future growth identified both in univariate and multivariate analyses were younger age at onset, cystic morphology, larger tumor volume, and cisternal location (as per Hannover grade). The proportion of growing tumors was 40%, 75%, and 96% among the homogeneous VS, primary cystic, and VS transformed to cystic, respectively. Moreover, tumor growth during the 1st year was significant predictor of continuous growth. Our “VS score” includes variables such as age, sex, morphology, and Hannover grade. The score extends between −3 and 6 points. Kaplan–Meier, confusion matrix, and receiver operating characteristic analysis proved high accuracy of our scoring model.

CONCLUSION:

Our retrospective study revealed that younger age, cystic morphology, cisternal extent, larger volume, and growth during 1st year were strong predictors of future growth. Moreover, we propose a scoring system that accurately estimates the risks of future tumor growth.
Eosinophil-Platelet Ratio as a Predictive Marker of the Postoperative Recurrence of a Chronic Subdural Hematoma
Authors: Yagi Kenji , Kanda Eiichiro , Hijikata Yasukazu , Tao Yoshifumi , Hishikawa Tomohito
Published: October 2024

BACKGROUND AND OBJECTIVES:

Symptomatic chronic subdural hematoma (CSDH) is caused by repetitive hemorrhage and inflammation, which is commonly treated with burr-hole surgery and has a relatively high postoperative recurrence rate. A decrease in the platelet count is indicative of a hemorrhagic tendency, while an increase in the eosinophil count is associated with inflammation. Assessing the balance between platelet-associated hemostasis and eosinophil-associated inflammation using the indeterminate biomarker, the eosinophil-platelet ratio (EPR), may be essential. Therefore, in this study, the accuracy of the EPR in predicting postoperative CSDH recurrence was evaluated and their correlation was determined.

METHODS:

Data on symptomatic CSDHs of the cerebral hemisphere of patients who underwent burr-hole surgery at our institution between January 2013 and December 2022 were retrospectively reviewed. The EPR was calculated from preoperative peripheral blood examination data, and its correlation with postoperative CSDH recurrence was assessed. The hemispheres with CSDH were categorized into recurrence and nonrecurrence cohorts.

RESULTS:

Data from 459 cerebral hemispheres of 405 patients with symptomatic CSDH were analyzed. In the 459 cerebral hemispheres with CSDH, 39 (8.5%) had postoperative recurrence. CSDH patients with a high EPR (≥1 × 10−3) had a significantly higher recurrent rate than those with a low EPR (<1 × 10−3) (15 of 86 [17.4%] vs 24 of 373 [6.4%], P = .002). In the modified Poisson regression analysis, the crude and adjusted risk ratios of high EPR were 2.79 (95% CI: 1.53, 5.09) and 2.62 (95% CI: 1.40, 4.89), respectively.

CONCLUSION:

This study reveals that a high EPR is a useful predictive biomarker for postoperative CSDH recurrence. Cases of CSDH with a high EPR potentially require careful and close postoperative follow-up.
The Low-Income and Middle-Income Countries' Perspective on Global Neurosurgery Collaborations
Authors: Marchesini Nicolò , Kamalo Patrick , Foroglou Nikolaos , Garozzo Deborah , Gonzalez-Lopez Pablo , Ivanov Marcel , Lafuente Jesus , Olldashi Fatos , Paternò Vincenzo , Petr Ondra , Rotim Krešimir , Rzaev Jamil , Timothy Jake , Tisell Magnus , Visocchi Massimiliano , Negida Ahmed , Uche Enoch , Rasulic Lukas , Demetriades Andreas K.
Published: October 2024

BACKGROUND AND OBJECTIVES:

Access to neurosurgical care is limited in low-income and middle-income countries (LMICs) and in marginalized communities in high-income countries (HICs). International partnerships represent one possible means of addressing this issue. Insights from surgeons in HICs have been explored, but data from LMICs' counterparts are scarce. We aimed to study the perspectives of neurosurgeons and trainees from LMICs regarding global neurosurgery (GN) collaborations and interests, motivators, and challenges in participating.

METHODS:

An online survey was conducted targeting neurosurgeons and trainees from LMICs. The survey explored demographics, previous experiences, ongoing activities, interests, and barriers related to GN activities. Data were collected between July 2022 and December 2022 and analyzed.

RESULTS:

Responses involved 436 individuals. The most represented region (25%) was sub-Saharan Africa, and most respondents were male (87.8%) aged 35-49 years. Interest in GN was high, with 91% after its developments. Most respondents (96.1%) expressed interest in training, professional, or research experience in HICs, but only 18.1% could cover the expenses. A majority (73.2%) strongly agreed to return to their home country for work after HIC training. Ongoing HIC-LMIC partnerships were reported by 27.8% of respondents. Clinical exposure emerged as the most relevant motivating factor (87%), while financial concerns, lack of opportunities, and lack of program support were identified as important barriers. Funding and dedicated time were highlighted as the most crucial facilitators.

CONCLUSION:

Understanding the perspectives of neurosurgeons and trainees from LMICs is essential to expanding HICs-LMICs collaborations and improving access to neurosurgical care worldwide. Financial support and targeted interventions are needed to address barriers and promote equitable partnerships in GN.
Making in vitro conditions more reflective of in vivo conditions for research on the teleost gastrointestinal tract
Authors: Bucking Carol , Bury Nic R. , Sundh Henrik , Wood Chris M.
Published: October 2024

To date, the majority of in vitro or ex vivo fish gastrointestinal research has been conducted under unrealistic conditions. In a living fish, ionic conditions, as well as levels of ammonia, pH, HCO3− and PCO2 differ considerably between the different regions of the gastrointestinal tract. These factors also differ from those of the saline often used in gut research. Furthermore, the oxygen gradient from the serosa to the gut lumen is rarely considered: in contrast to the serosa, the lumen is a hypoxic/anoxic environment. In addition, the gut microbiome plays a significant role in gut physiology, increasing the complexity of the in vivo gut, but replicating the microbial community for in vitro studies is exceptionally difficult. However, there are ways in which we can begin to overcome these challenges. Firstly, the luminal chemistry and PO2 in each gut compartment must be carefully considered. Secondly, although microbiological culture techniques are improving, we must learn how to maintain the microbiome diversity seen in vivo. Finally, for ex vivo studies, developing mucosal (luminal) solutions that more closely mimic the in vivo conditions will better replicate physiological processes. Within the field of mammalian gut physiology, great advances in ‘gut-on-chip’ devices are providing the tools to better replicate in vivo conditions; adopting and adapting this technology may assist in fish gut research initiatives. This Commentary aims to make fish gut physiologists aware of the various issues in replicating the in vivo conditions and identifies solutions as well as those areas that require further improvement.
The impacts of diet on cardiac performance under changing environments
Authors: Eliason Erika J. , Hardison Emily A.
Published: October 2024

Natural and anthropogenic stressors are dramatically altering environments, impacting key animal physiological traits, including cardiac performance. Animals require energy and nutrients from their diet to support cardiac performance and plasticity; however, the nutritional landscape is changing in response to environmental perturbations. Diet quantity, quality and options vary in space and time across heterogeneous environments, over the lifetime of an organism and in response to environmental stressors. Variation in dietary energy and nutrients (e.g. lipids, amino acids, vitamins, minerals) impact the heart's structure and performance, and thus whole-animal resilience to environmental change. Notably, many animals can alter their diet in response to environmental cues, depending on the context. Yet, most studies feed animals ad libitum using a fixed diet, thus underestimating the role of food in impacting cardiac performance and resilience. By applying an ecological lens to the study of cardiac plasticity, this Commentary aims to further our understanding of cardiac function in the context of environmental change.
Effectiveness of Play Therapy Programme in Promoting Early Child Development of under-5 Children visiting Tertiary Care Hospital in Rural Settings: Study Protocol of a Randomized Controlled Trial.
Authors: Patil Manoj , Gaidhane Abhay , Quazi Zahiruddin
Published: October 2024

Background Good care and conscious, mindful parenting are the essential requirements of the early childhood period. Good care in early childhood consists of mindful handling of children’s needs like hunger, care in sickness, socio-emotional needs, safety, love and affection. Good care promotes children’s development and provides a favourable environment for learning. It’s a well-known fact that hospitalization is a stressful situation for child of any age. Play is an integral part of early childhood period which is virtually restricted in hospital settings. This study will try to explore the effectiveness of play therapy delivered in hospital settings, on early child development. Methods This will be a randomized control trial conducted in the Paediatrics department of a tertiary care hospital in Wardha, India. The sample size will be 360 children, 180 each in intervention and control arm. The hospitalized children from intervention arm will receive customized Play Therapy sessions from trained research assistants and will be followed up at scheduled home visits for one year from the date of enrolment. All children will be assessed for changes in cognitive, motor and socio-emotional development scores. The differences in development scores between intervention and control groups will be compared and effect sizes of changes will be calculated. Discussion Implementation of play stimulation activities have been reported as useful strategies for promoting child development and good recovery during hospitalization. This trial will attempt to explore the effectiveness of play therapy on changes in child development scores of children from intervention group compared to the control group. The customized play therapy program will be adapted to paediatric inpatient settings, and attempts will be made to improve the Play Therapy kit for hospitalized children. Registration Clinical Trial Registry of India Registration No.: C.T.R.I./2022/03/041355, dated 24/03/2022. Protocol Version: v6 Dated 04/10/2024.
The usefulness of a rehabilitation programme for people with stress-related disorders - A case from a rehabilitation center in Estonia.
Authors: Hossain Mohammad Delwar
Published: October 2024

Background Rehabilitation programs help to improve people’s lives and reduce turnover rates in organisations. The current analysis revealed that dissatisfaction occurred among practitioners, doctors’ overlapping services, and fragmented plans. No comprehensive assessment and rehabilitation program currently exists for stress-related disorders in Estonia indicating an urgent need to conduct research and development programs for clients to reduce stress (Bugarski, Z, et al., 2016). This study research aimed to determine the usefulness of rehabilitation programs for individuals people with stress-related disorders. Method A qualitative approach was used. Methodology The sample included 10 individuals recruited from various rehabilitation centers in Estonia. Convenience sampling was used to select participants for this research. Open- and closed-ended questions were formulated using the 12 questions enclosed in this research. All transcribed interviews were formatted using the code. Extract codes within participant interviews were compared to identify similarities, differences, and closeness, and therefore formulated categories. Results The findings revealed that rehabilitation programs contribute to quality services, self-motivation, daily activities plan, self-control, recovery, attention and concentration, and coping skills, whereas traditional treatment can reduce symptoms but not change people’s lives. Conclusion This study suggests that rehabilitation programs are useful for individuals with stress disorders in the context of the Estonian healthcare system. The rehabilitation program is a useful intervention method revealed in the context of Estonia’s healthcare system, as it improves quality services, increases coping skills, self-control, and cognitive skills, and enhances recovery.
Covid-19 mortality risk factors: Survival analysis of the hospitalized cohort in Sahloul university hospital in Tunisia
Authors: NEFFATI ARWA , Ghali Hela , Bannour Rania , bhiri Sana , Ben hamada Habiba , Kacem Balsam , Ben Rejeb Mohamed , Ben Cheikh Asma , Kahloul Mohamed , Naija Walid , Trabelsi Halim , Said Laatiri Houyem
Published: October 2024

Background Tunisia was one of the most affected nations with COVID-19 disease. The clinical features of this illness range from asymptomatic illness to death. Aim To analyse the survival of patients admitted to a Tunisian tertiary care center (Sahloul University Hospital) and identify independent predictive factors for hospital COVID-19 mortality. Methods A longitudinal study was conducted among confirmed COVID-19 patients hospitalized in Sahloul University Hospital between September 2020 and September 2022. Cox univariate regression was used to calculate the Hazard Ratio (HR) of death for patient characteristics regarding the time at risk. Risk factors with a p value of 0.2 or less in the univariate analysis were initially included in the multivariate Cox regression models. Results During the study at Sahloul Hospital, 1978 patients were hospitalized, averaging 55.65 years in age (± 21.39). Among them, 417 deaths occurred, with a median survival of 30 days (± 3.11) [23.904-36.096]. Factors significantly affecting the survival curve were: Age, male gender, comorbidities, diabetes, hypertension, endocrine diseases, obesity, intubation, and ICU admission Multilevel survival analyses revealed that hypertension (aHR 1.24; CI [1.02-1.52]; p=0.028), ICU admission (aHR 12.20- CI [9.56-15.57]; p<10-3), and male gender (HR 1.19; CI [0.98-1.46]; p=0.076) were independent factors associated with COVID-19 mortality. Conclusion Our study concluded the importance of the early identification of high-risk COVID-19 patients to decrease this virus mortality. A good understanding of the possible clinical factors associated with COVID-19 severity is helpful for clinicians in identifying patients who are at high risk and require prioritized treatment to minimize death.
Eosinophilia and Leucocytic DNA damage
Authors: Szeto Yim Tong
Published: October 2024

Eosinophilia serves as an indicator of allergy and parasite infestation. Eosinophil granules are believed to have adverse effects on cells and contribute to oxidative stress. In our current study, we investigated the relationship between eosinophilia and healthy subjects in terms of nuclear DNA damage in peripheral leukocytes. The comet assay was employed to test whole blood samples from 52 subjects in each group. The results revealed that eosinophilia subjects exhibited significantly higher levels of nuclear DNA damage in leukocytes compared to healthy subjects. Additionally, a weak positive association was observed between eosinophil counts and DNA damage. Our findings suggest that eosinophilia is linked to systemic oxidative DNA damage.
The genome sequence of the Currant Clearwing moth, Synanthedon tipuliformis (Clerck, 1759)
Authors: Boyes Douglas , Holland Peter W. H. ,   University of Oxford and Wytham Woods Genome Acquisition Lab,   Darwin Tree of Life Barcoding collective,   Wellcome Sanger Institute Tree of Life programme,   Wellcome Sanger Institute Scientific Operations: DNA Pipelines collective,   Tree of Life Core Informatics collective,   Darwin Tree of Life Consortium
Published: October 2024

We present a genome assembly from an individual male Synanthedon tipuliformis (the Currant Clearwing; Arthropoda; Insecta; Lepidoptera; Sesiidae). The genome sequence is 295.8 megabases in span. Most of the assembly (99.98%) is scaffolded into 31 chromosomal pseudomolecules, including the Z sex chromosome. The mitochondrial genome has also been assembled and is 27.05 kilobases in length. Gene annotation of this assembly on Ensembl identified 11,878 protein-coding genes.
Issue of the Holy Trinity and Marian columns in the Habsburg Monarchy in the 17th–18th centuries (with particular reference to Polish lands) – the state of studies and research demands
Authors: Polcyn Julia Zuzanna
Published: October 2024

Celem artykułu jest zestawienie stanu badań dotyczącego problemu kolumn Trójcy Świętej i maryjnych, powstających w XVII i XVIII w. Przyjęto podział na historiografie narodowe, współczesnych państw wchodzących w skład byłej Monarchii Habsburgów: Austrii, Czech, Słowacji, Węgier, Polski ( Śląsk i Ziemia Kłodzka), Niemiec, Słowenii, Chorwacji, Rumunii oraz badaczy ze Stanów Zjednoczonych. Pomimo licznych publikacji ( w szczególności czeskich), do tej pory niedostatecznie opracowano zagadnienie wpływu wczesnonowożytnych epidemii na fundacje kolumn Trójcy Świętej i maryjnych. Na pierwszym planie są stawiane raczej walory artystyczne oraz ideowy program kontrreformacyjny. Warto, więc szerzej zainteresować się kwestią środowiska fundatorów, lokalizacją monumetów oraz społecznym wymiarem całego zjawiska.