bluuebunny/crossref_metadata_2025 huggingface dataset:
Impact of Plastic Surgery and an Enhanced Prophylaxis Protocol on Cervical Spine Surgery Infection
Authors: Choudhri Tanvir F. , Li Adam Y. , Ali Muhammad , Spiera Zachary , Marayati Naoum Fares , Schupper Alexander J. , Durbin John , Asghar Nek , Dreher Nickolas , Hannah Theodore , Sayegh Farah , Bellaire Christopher , Harmaty Marco A. , Torina Philip , Ting Jess , Taub Peter J.
Published: September 2022

Background: Reduction of surgical site infections (SSIs) is important in improving cervical spine surgery outcomes. Plastic surgery involvement and an enhanced modified prophylaxis protocol may reduce infection rates. Methods: A total of 962 cervical spine operations were conducted by a single surgeon (TFC). An enhanced modified prophylaxis protocol and plastic surgery were used in some operations. Differences in infection rates, surgical approach, previous operations, prophylaxis use, and plastic surgery involvement were compared using Fisher’s exact tests and multivariate linear regression. Results: Four patients (0.42%) experienced SSIs. All 4 infections involved the standard protocol, posterior approach, and did not involve plastic surgery. The infection rate was lower in the enhanced protocol group when compared to the standard protocol (β −0.78, 95% CI −1.23 to −0.33, P = .0008). The enhanced protocol group had an increased percentage of operations with plastic surgery (β 0.19, 95% CI 0.10 to 0.28, P < .0001). The infection rate among the plastics group was 0.00% compared to 0.60% for the non-plastics group ( P = .32). The plastics group had a lower rate of anterior approach when compared to the non-plastics group (β −0.20, 95% CI −0.24 to −0.15, P = .049). Among the posterior approach group, procedures with plastic surgery had an infection rate of 0.00% compared to 2.53% without plastic surgery ( P = .13). Conclusion: The enhanced protocol was associated with a lower SSI rate and increased plastic surgery involvement. Posterior approaches were associated with increased infection rates and the likelihood of utilizing plastic surgery. Both the enhanced protocol and plastic surgery may decrease infection.
Implementation and facilitation of post-resuscitation debriefing: a comparative crossover study of two post-resuscitation debriefing frameworks
Authors: Kam April J. , Gonsalves Clarelle L. , Nordlund Samantha V. , Hale Stephen J. , Twiss Jennifer , Cupido Cynthia , Brar Mandeep , Parker Melissa J.
Published: September 2022

Background

Post-resuscitation debriefing (PRD) is the process of facilitated, reflective discussion, enabling team-based interpersonal feedback and identification of systems-level barriers to patient care. The importance and benefits of PRD are well recognized; however, numerous barriers exist, preventing its practical implementation. Use of a debriefing tool can aid with facilitating debriefing, creating realistic objectives, and providing feedback.

Objectives

To assess utility of two PRD tools, Debriefing In Situ Conversation after Emergent Resuscitation Now (DISCERN) and Post-Code Pause (PCP), through user preference. Secondary aims included evaluating differences in quality, subject matter, and types of feedback between tools and implications on quality improvement and patient safety.

Methods

Prospective, crossover study over a 12-month period from February 2019 to January 2020. Two PDR tools were implemented in 8 week-long blocks in acute care settings at a tertiary care children’s hospital. Debriefings were triggered for any intubation, resuscitation, serious/unanticipated patient outcome, or by request for distressing situations. Post-debriefing, team members completed survey evaluations of the PDR tool used. Descriptive statistics were used to analyze survey responses. A thematic analysis was conducted to identify themes that emerged from qualitative responses.

Results

A total of 114 debriefings took place, representing 655 total survey responses, 327 (49.9%) using PCP and 328 (50.1%) using DISCERN. 65.2% of participants found that PCP provided emotional support while only 50% of respondents reported emotional support from DISCERN. PCP was found to more strongly support clinical education (61.2% vs 56.7%). There were no significant differences in ease of use, support of the debrief process, number of newly identified improvement opportunities, or comfort in making comments or raising questions during debriefs between tools. Thematic analysis revealed six key themes: communication, quality of care, team function & dynamics, resource allocation, preparation and response, and support.

Conclusion

Both tools provide teams with an opportunity to reflect on critical events. PCP provided a more organized approach to debriefing, guided the conversation to key areas, and discussed team member wellbeing. When implementing a PRD tool, environmental constraints, desired level of emotional support, and the extent to which open ended data is deemed valuable should be considered.
Applicability of a semiautomated volumetric approach (5D CNS+™) for detailed antenatal reconstruction of abnormal fetal CNS anatomy
Authors: Welp Amrei , Gembicki Michael , Dracopoulos Christoph , Scharf Jann Lennard , Rody Achim , Weichert Jan
Published: September 2022

Background

The aim of this study was to evaluate the accuracy and reliability of a semiautomated volumetric approach (5D CNS+™) when examining fetuses with an apparent abnormal anatomy of the central nervous system (CNS).

Methods

Stored 3D volumes extracted from a cohort of > 1.400 consecutive 2nd and 3rd trimester pregnancies (range 15–36 gestational weeks) were analyzed using the semiautomatic software tool 5D CNS+™, enabling detailed reconstruction of nine diagnostic planes of the fetal brain. All 3D data sets were examined and judged for plane accuracy, the need for manual adjustment, and fetal CNS anomalies affecting successful plane reconstruction.

Results

Based on our data of 91 fetuses with structural cerebral anomalies, we were able to reveal details of a wide range of CNS anomalies with application of the 5D CNS+™ technique. The corresponding anatomical features and consecutive changes of neighboring structures could be clearly demonstrated. Thus, a profound assessment of the entire altered CNS anatomy could be achieved in nearly all cases. The comparison with matched controls showed a significant difference in volume acquisition (p < 0.001) and in need for manual adjustment (p < 0.001) but not in the drop-out rates (p = 0.677) of both groups.

Conclusion

5D CNS+™ is applicable in the majority of cases with brain lesions and constitutes a reliable tool even if the integrity of the fetal CNS is compromised by structural anomalies. Using volume data that were acquired in identical cutting sections needed for conventional biometry allows for detailed anatomic surveys grossly independent of the examiner’s experience.
Higher serum albumin-corrected calcium levels are associated with revascularization and poor outcome after mechanical thrombectomy
Authors: He Xinwei , Lin Baomei , Tao Taotao , Chen Qiuyue , Wang Jinhua , Jin Jiaolei
Published: September 2022

Background

Serum calcium abnormalities have been determined to be associated with the risk and outcome of stroke. The aim of the present study was to examine the associations of serum calcium with vascular recanalization, symptomatic intracranial haemorrhage and functional outcome in stroke patients after mechanical thrombectomy.

Methods

A total of 192 patients treated with mechanical thrombectomy for anterior circulation large vessel occlusion were consecutively included from August 2017 to June 2021. Serum calcium levels were measured on admission, and albumin-corrected calcium levels were calculated for subsequent analysis. Successful arterial revascularization was defined as a modified Thrombolysis in Cerebral Infarction scale score ≥ 2b. Symptomatic intracranial haemorrhage was assessed according to the European Cooperative Acute Stroke Study (ECASS) III criteria. Poor functional outcome was defined as a modified Rankin Scale score > 2 at 3 months.

Results

Patients with poor outcomes had higher albumin-corrected calcium levels than patients with good outcomes before (2.20 (2.10, 2.30) mmol/L vs. 2.13 (2.04, 2.24) mmol/L, P = 0.002), and after adjusting for other factors (AOR 95% CI, 1.812 (1.253, 2.621), P = 0.002). Patients with unsuccessful recanalization had higher albumin-corrected calcium levels than those with recanalization (2.26 (2.09, 2.46) mmol/L vs. 2.17 (2.07, 2.27) mmol/L, P = 0.029), and after adjusting for other factors (AOR 95% CI, 2.068 (1.214, 3.524)), P = 0.008). No association was found between albumin-corrected calcium and symptomatic intracranial haemorrhage.

Conclusions

Higher serum albumin-corrected calcium levels are independently associated with revascularization and poor outcome in stroke patients after mechanical thrombectomy.
Benefits, barriers and enablers of maternity waiting homes utilization in Ethiopia: an integrative review of national implementation experience to date
Authors: Gurara Mekdes Kondale , Jacquemyn Yves , Ukke Gebresilasea Gendisha , Van Geertruyden Jean-Pierre , Draulans Veerle
Published: September 2022

Background

Though Ethiopia has expanded Maternity Waiting Homes (MWHs) to reduce maternal and perinatal mortality, the utilization rate is low. To maximize the use of MWH, policymakers must be aware of the barriers and benefits of using MWH. This review aimed to describe the evidence on the barriers and benefits to access and use of MWHs in Ethiopia.

Methods

Data were sourced from PubMed, Google Scholars and Dimensions. Thirty-one studies were identified as the best evidence for inclusion in this review. We adopted an integrative review process based on the five-stage process proposed by Whittemore and Knafl.

Results

The key themes identified were the benefits, barriers and enablers of MWH utilization with 10 sub-themes. The themes about benefits of MWHs were lower incidence rate of perinatal death and complications, the low incidence rate of maternal complications and death, and good access to maternal health care. The themes associated with barriers to staying at MWH were distance, transportation, financial costs (higher out-of-pocket payments), the physical aspects of MWHs, cultural constraints and lack of awareness regarding MWHs, women’s perceptions of the quality of care at MWHs, and poor provider interaction to women staying at MWH. Enablers to pregnant women to stay at MWHs were availability of MWHs which are attached with obstetric services with quality and compassionate care.

Conclusion

This study synthesized research evidence on MWH implementation, aiming to identify benefits, barriers, and enablers for MWH implementation in Ethiopia. Despite the limited and variable evidence, the implementation of the MWH strategy is an appropriate strategy to improve access to skilled birth attendance in rural Ethiopia.
Future trends of life expectancy by education in the Netherlands
Authors: Nusselder Wilma J. , De Waegenaere Anja M. B. , Melenberg Bertrand , Lyu Pintao , Rubio Valverde Jose R.
Published: September 2022

Background

National projections of life expectancy are made periodically by statistical offices or actuarial societies in Europe and are widely used, amongst others for reforms of pension systems. However, these projections may not provide a good estimate of the future trends in life expectancy of different social-economic groups. The objective of this study is to provide insight in future trends in life expectancies for low, mid and high educated men and women living in the Netherlands.

Methods

We used a three-layer Li and Lee model with data from neighboring countries to complement Dutch time series.

Results

Our results point at further increases of life expectancy between age 35 and 85 and of remaining life expectancy at age 35 and age 65, for all education groups in the Netherlands. The projected increase in life expectancy is slightly larger among the high educated than among the low educated. Life expectancy of low educated women, particularly between age 35 and 85, shows the smallest projected increase. Our results also suggest that inequalities in life expectancies between high and low educated will be similar or slightly increasing between 2018 and 2048. We see no indication of a decline in inequality between the life expectancy of the low and high educated.

Conclusions

The educational inequalities in life expectancy are expected to persist or slightly increase for both men and women. The persistence and possible increase of inequalities in life expectancy between the educational groups may cause equity concerns of increases in pension age that are equal among all socio-economic groups.
Experiences of infertile women pursuing treatment in Kenya: a qualitative study
Authors: Njogu Anne , Njogu Julius , Mutisya Albanus , Luo Yang
Published: September 2022

Background

The infertility treatment process is associated with various psychological, physical, social, moral, and financial challenges, especially for women. The women are likely to report low marital satisfaction and emotional distress due to fertility treatment demands. This study explored how infertile women described their treatment experience and how they coped with treatment demands as they underwent treatment at three gynecology outpatient clinics in Kenya.

Methods

A qualitative phenomenological research design was used to analyze and describe women’s fertility treatment experiences. The data were collected through semi-structured in-depth interviews with 33 infertile women selected purposively. Trustworthiness of the findings was ensured using Guba and Lincoln’s criteria. The recorded interviews were transcribed verbatim and then analyzed using reflective thematic analysis, developed by Braun and Clarkes.

Results

Three themes and 13 sub-themes related to women’s fertility treatment experiences and coping strategies were identified. The theme challenges encountered during fertility treatment have three sub-themes: emotional distressing, physical pain, and financial constraining. Theme impacts of fertility treatment on relationships have three sub-themes: relationship with their husband, relationship with their family, and relationship with their friends. Finally, coping with fertility treatment has six sub-themes: religious practices and personal faith, giving in to feelings, shifting focus, taking a break, staying with their relative’s children, and receiving support from others.

Conclusion

The experiences of women undergoing treatment are multi-dimensional. Therefore, incorporating psychosocial interventions or counseling into the fertility treatment routine with National Health Insurance Fund cards may reduce the treatment burden, improving women’s psychological well-being and relationships with their husbands, family, and friends.
Assessment of changes in gaze patterns during training in point-of-care ultrasound
Authors: Chan Alice H. Y. , Lee Wei Feng , Van Gerven Pascal W. M. , Chenkin Jordan
Published: September 2022

Background

Point-of-care ultrasound (POCUS) is a core skill in emergency medicine (EM), however, there is a lack of objective competency measures. Eye-tracking technology is a potentially useful assessment tool, as gaze patterns can reliably discriminate between experts and novices across medical specialties. We aim to determine if gaze metrics change in an independent and predictable manner during ultrasound training.

Methods

A convenience sample of first-year residents from a single academic emergency department was recruited. Participants interpreted 16 ultrasound videos of the focused assessment with sonography for trauma (FAST) scan while their gaze patterns were recorded using a commercially available eye-tracking device. The intervention group then completed an introductory ultrasound course whereas the control group received no additional education. The gaze assessment was subsequently repeated. The primary outcome was total gaze duration on the area of interest (AOI). Secondary outcomes included time to fixation, mean duration of first fixation and mean number of fixations on the AOI.

Results

10 EM residents in the intervention group and 10 non-EM residents in the control group completed the study. After training, there was an 8.8 s increase in the total gaze time on the AOI in the intervention group compared to a 4.0 s decrease in the control group (p = .03). EM residents were also 3.8 s quicker to fixate on the AOI whereas the control group became 2.5 s slower (p = .04). There were no significant interactions on the number of fixations (0.43 vs. 0.18, p = .65) or duration of first fixation on the AOI (0.02 s vs. 0.06 s, p = .63).

Conclusions

There are significant and quantifiable changes in gaze metrics, which occur with incremental learning after an ultrasound course. Further research is needed to validate the serial use of eye-tracking technology in following a learner’s progress toward competency in point-of-care ultrasound image interpretation.
Diagnosis of cardiac abnormalities based on phonocardiogram using a novel fuzzy matching feature extraction method
Authors: Yang Wanrong , Xu Jiajie , Xiang Junhong , Yan Zhonghong , Zhou Hengyu , Wen Binbin , Kong Hai , Zhu Rui , Li Wang
Published: September 2022

Background

The diagnosis of cardiac abnormalities based on heart sound signal is a research hotspot in recent years. The early diagnosis of cardiac abnormalities has a crucial significance for the treatment of heart diseases.

Methods

For the sake of achieving more practical clinical applications of automatic recognition of cardiac abnormalities, here we proposed a novel fuzzy matching feature extraction method. First of all, a group of Gaussian wavelets are selected and then optimized based on a template signal. Convolutional features of test signal and the template signal are then computed. Matching degree and matching energy features between template signal and test signal in time domain and frequency domain are then extracted. To test performance of proposed feature extraction method, machine learning algorithms such as K-nearest neighbor, support vector machine, random forest and multilayer perceptron with grid search parameter optimization are constructed to recognize heart disease using the extracted features based on phonocardiogram signals.

Results

As a result, we found that the best classification accuracy of random forest reaches 96.5% under tenfold cross validation using the features extracted by the proposed method. Further, Mel-Frequency Cepstral Coefficients of phonocardiogram signals combing with features extracted by our algorithm are evaluated. Accuracy, sensitivity and specificity of integrated features reaches 99.0%, 99.4% and 99.7% respectively when using support vector machine, which achieves the best performance among all reported algorithms based on the same dataset. On several common features, we used independent sample t-tests. The results revealed that there are significant differences (p < 0.05) between 5 categories.

Conclusion

It can be concluded that our proposed fuzzy matching feature extraction method is a practical approach to extract powerful and interpretable features from one-dimensional signals for heart sound diagnostics and other pattern recognition task.
Burnout, stress and resilience of an Australian regional hospital during COVID-19: a longitudinal study
Authors: Armstrong Samantha J. , Porter Joanne E. , Larkins Jo-Ann , Mesagno Christopher
Published: September 2022

Coronavirus disease 2019 (COVID-19) has placed huge strain on hospital staff around the world. The aim of the current longitudinal study was to investigate the resilience, stress and burnout of hospital staff located at a large, regional hospital in Victoria, Australia during the COVID-19 pandemic over time via cross-sectional surveys. The surveys were disseminated six times from August 2020 to March 2021, with the first three data collection points distributed during a state-wide lockdown. A total of 558 responses from various professional roles within the hospital over the survey period were included in the sample. Analysis of variance indicated significant main effects for the psychological variables across time, age, and workload. Hospital staff reported an increase in burnout levels throughout the eight-months. Significant negative relationships were observed between resilience and burnout, and between resilience and stress. A backward regression highlighted the contribution of resilience, stress, age, and nursing roles on burnout. Hierarchical regression analysis indicated that resilience contributed to the stress-burnout relationship. This study strengthens the evidence between resilience and burnout among healthcare workers and hospital staff and highlights the need for psychological wellbeing programs to be implemented for hospital staff impacted by a prolonged worldwide pandemic.
Face-to-face physical activity incorporated into dietary intervention for overweight/obesity in children and adolescents: a Bayesian network meta-analysis
Authors: Liang Jing Hong , Zhao Yu , Chen Yi Can , Jiang Nan , Zhang Shu Xin , Huang Shan , Kakaer Aerziguli , Chen Ya Jun
Published: September 2022

Background

Adolescent obesity has been reported to have deleterious consequences but is considered a promising modifiable risk factor. We aimed to investigate the optimal intervention for obese and overweight children and adolescents.

Methods

We searched the Medline (PubMed, 1946–December 2020), PsycINFO (Ovid, 1927–December 2020), Cochrane library (1966–December 2020), Web of Science (1900–December 2020), Embase (1974–December 2020), CINAHL (1937–December 2020), Chinese Biomedical Literature (1978–December 2020), andClinicalTrials.gov(December 2020) databases. We included randomized controlled trials (RCTs) reporting the association between various interventions and obese/overweight children and adolescents. The quality of the included studies was judged by two independent reviewers using the Cochrane Collaboration Risk of Bias Tool. A Bayesian network meta-analysis was conducted to summarize the comparative effectiveness of interventions based on several outcomes.

Results

We included 118 RCTs comprising 71,064 participants in our analyses. Based on the outcome of the body mass index (BMI), face-to-face physical activity (FTF PA) combined with dietary intervention (DI) (mean difference [MD] = − 0.98; 95% credible interval [CrI] − 1.19, − 0.77), FTF multi-lifestyle intervention (MLI) (MD = − 0.95; 95% CrI − 1.14, − 0.75), and mobile health (MH)-delivered MLI (MD = − 0.87; 95% CrI − 1.63, − 0.09) showed significant benefits over the named control group (NCG). For the outcome of BMI z-score, FTF PA+DI (MD = − 0.10; 95% CrI − 0.15, − 0.04) and MH-delivered PA+DI (MD = − 0.09; 95% CrI − 0.14, − 0.04) were more effective than the NCG. Sensitivity analyses revealed similar findings after exclusion of studies with < 12-month and 24-month outcome assessments for the intervention, which indicated the results were stable.

Conclusions

Based on limited quality evidence and limited direct evidence, our preliminary findings showed that FTF-PA+DI, FTF-MLI, and MH-delivered MLI improved the health-related parameters in obese adolescents, in comparison with NCG. Owing to the absence of strong, direct evidence of a significant difference between the various interventions for the four outcomes, we can only cautiously suggest that FTF-PA+DI is likely the most effective intervention.
Age and product dependent vaccine effectiveness against SARS-CoV-2 infection and hospitalisation among adults in Norway: a national cohort study, July–November 2021
Authors: Starrfelt Jostein , Danielsen Anders Skyrud , Buanes Eirik Alnes , Juvet Lene Kristine , Lyngstad Trude Marie , Rø Gunnar Øyvind Isaksson , Veneti Lamprini , Watle Sara Viksmoen , Meijerink Hinta
Published: September 2022

Background

COVID-19 vaccines have been crucial in the pandemic response and understanding changes in vaccines effectiveness is essential to guide vaccine policies. Although the Delta variant is no longer dominant, understanding vaccine effectiveness properties will provide essential knowledge to comprehend the development of the pandemic and estimate potential changes over time.

Methods

In this population-based cohort study, we estimated the vaccine effectiveness of Comirnaty (Pfizer/BioNTech; BNT162b2), Spikevax (Moderna; mRNA-1273), Vaxzevria (AstraZeneca; ChAdOx nCoV-19; AZD1222), or a combination against SARS-CoV-2 infections, hospitalisations, intensive care admissions, and death using Cox proportional hazard models, across different vaccine product regimens and age groups, between 15 July and 31 November 2021 (Delta variant period). Vaccine status is included as a time-varying covariate and all models were adjusted for age, sex, comorbidities, county of residence, country of birth, and living conditions. Data from the entire adult Norwegian population were collated from the National Preparedness Register for COVID-19 (Beredt C19).

Results

The overall adjusted vaccine effectiveness against infection decreased from 81.3% (confidence interval (CI): 80.7 to 81.9) in the first 2 to 9 weeks after receiving a second dose to 8.6% (CI: 4.0 to 13.1) after more than 33 weeks, compared to 98.6% (CI: 97.5 to 99.2) and 66.6% (CI: 57.9 to 73.6) against hospitalisation respectively. After the third dose (booster), the effectiveness was 75.9% (CI: 73.4 to 78.1) against infection and 95.0% (CI: 92.6 to 96.6) against hospitalisation. Spikevax or a combination of mRNA products provided the highest protection, but the vaccine effectiveness decreased with time since vaccination for all vaccine regimens.

Conclusions

Even though the vaccine effectiveness against infection waned over time, all vaccine regimens remained effective against hospitalisation after the second vaccine dose. For all vaccine regimens, a booster facilitated recovery of effectiveness. The results from this support the use of heterologous schedules, increasing flexibility in vaccination policy.
Construction and evaluation of a prognostic risk model of tumor metastasis-related genes in patients with non-small cell lung cancer
Authors: Ding Huan , Shi Li , Chen Zhuo , Lu Yi , Tian Zhiyu , Xiao Hongyu , Deng Xiaojing , Chen Peiyi , Zhang Yue
Published: September 2022

Background

Lung cancer is a high-incidence cancer, and it is also the most common cause of cancer death worldwide. 80–85% of lung cancer cases can be classified as non-small cell lung cancer (NSCLC).

Methods

NSCLC transcriptome data and clinical information were downloaded from the TCGA database and GEO database. Firstly, we analyzed and identified the differentially expressed genes (DEGs) between non-metastasis group and metastasis group of NSCLC in the TCGA database, Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG) were consulted to explore the functions of the DEGs. Thereafter, univariate Cox regression and LASSO Cox regression algorithms were applied to identify prognostic metastasis-related signature, followed by the construction of the risk score model and nomogram for predicting the survival of NSCLC patients. GSEA analyzed that differentially expressed gene-related signaling pathways in the high-risk group and the low-risk group. The survival of NSCLC patients was analyzed by the Kaplan–Meier method. ROC curve was plotted to evaluate the accuracy of the model. Finally, the GEO database was further applied to verify the metastasis‑related prognostic signature.

Results

In total, 2058 DEGs were identified. GO functions and KEGG pathways analysis results showed that the DEGs mainly concentrated in epidermis development, skin development, and the pathway of Neuro active ligand -receptor interaction in cancer. A six-gene metastasis-related risk signature including C1QL2, FLNC, LUZP2, PRSS3, SPIC, and GRAMD1B was constructed to predict the overall survival of NSCLC patients. The reliability of the gene signature was verified in GSE13213. The NSCLC patients were grouped into low-risk and high-risk groups based on the median value of risk scores. And low-risk patients had lower risk scores and longer survival time. Univariate and multivariate Cox regression verified that this signature was an independent risk factor for NSCLC.

Conclusion

Our study identified 6 metastasis biomarkers in the NSCLC. The biomarkers may contribute to individual risk estimation, survival prognosis.
Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment
Authors: Chen Zhehui , Dong Hui , Liu Yupeng , He Ruxuan , Song Jinqing , Jin Ying , Li Mengqiu , Liu Yi , Liu Xueqin , Yan Hui , Qi Jianguang , Wang Fang , Xiao Huijie , Zheng Hong , Kang Lulu , Li Dongxiao , Zhang Yao , Yang Yanling
Published: September 2022

Background

cblC deficiency is the most common type of methylmalonic aciduria in China. Late-onset patients present with various non-specific symptoms and are usually misdiagnosed. The purpose of this study is to investigate the clinical features of patients with late-onset cblC deficiency and explore diagnosis and management strategies around puberty.

Results

This study included 56 patients (35 males and 21 females) with late-onset cblC deficiency who were admitted to our clinic between 2002 and September 2021. The diagnosis was confirmed by metabolic and genetic tests. The clinical and biochemical features, disease triggers, outcome, and associated genetic variants were examined. The onset age ranged from 10 to 20 years (median age, 12 years). Fifteen patients (26.8%) presented with symptoms after infection or sports training. Further, 46 patients (82.1%) had neuropsychiatric diseases; 11 patients (19.6%), cardiovascular diseases; and 6 patients (10.7%), pulmonary hypertension. Renal damage was observed in 6 cases (10.7%). Genetic analysis revealed 21 variants of the MMACHC gene in the 56 patients. The top five common variants detected in 112 alleles were c.482G > A (36.6%), c.609G > A (16.1%), c.658_660delAAG (9.8%), c.80A > G (8.0%), and c.567dupT (6.3%). Thirty-nine patients carried the c.482G > A variant. Among 13 patients who exhibited spastic paraplegia as the main manifestation, 11 patients carried c.482G > A variants. Six patients who presented with psychotic disorders and spastic paraplegia had compound heterozygotic c.482G > A and other variants. All the patients showed improvement after metabolic treatment with cobalamin, l-carnitine, and betaine, and 30 school-aged patients returned to school. Two female patients got married and had healthy babies.

Conclusions

Patients with late-onset cblC deficiency present with a wide variety of neuropsychiatric symptoms and other presentations, including multiple organ damage. As a result, cb1C deficiency can easily be misdiagnosed as other conditions. Metabolic and genetic studies are important for accurate diagnosis, and metabolic treatment with cobalamin, l-carnitine, and betaine appears to be beneficial.
Infliximab in the treatment of patients with severe COVID-19 (INFLIXCOVID): protocol for a randomised, controlled, multicentre, open-label phase II clinical study
Authors: Coldewey Sina M. , Neu Charles , Bloos Frank , Baumbach Philipp , Schumacher Ulrike , Bauer Michael , Reuken Philipp , Stallmach Andreas
Published: September 2022

Background

Despite the intense global research endeavour to improve the treatment of patients with COVID-19, the current therapy remains insufficient, resulting in persisting high mortality. Severe cases are characterised by a systemic inflammatory reaction driven by the release of pro-inflammatory cytokines such as IL-6 and tumour-necrosis-factor alpha (TNF-α). TNF-α-blocking therapies have proved beneficial in patients with chronic inflammatory diseases and could therefore pose a new treatment option in COVID-19. Hitherto, no results from randomised controlled trials assessing the effectiveness and safety of infliximab—a monoclonal antibody targeting TNF-α—in the treatment of COVID-19 have been published.

Methods

In this phase-2 clinical trial, patients with COVID-19 and clinical and laboratory signs of hyperinflammation will be randomised to receive either one dose of infliximab (5 mg/kg body weight) in addition to the standard of care or the standard of care alone. The primary endpoint is the difference in 28-day mortality. Further assessments concern the safety of infliximab therapy in COVID-19 and the influence of infliximab on morbidity and the course of the disease. For the supplementary scientific programme, blood and urine samples are collected to assess concomitant molecular changes. The Ethics Committee of the Friedrich Schiller University Jena (2021-2236-AMG-ff) and the Paul-Ehrlich-Institute (4513/01) approved the study.

Discussion

The results of this study could influence the therapy of patients with COVID-19 and affect the course of the disease worldwide, as infliximab is globally available and approved by several international drug agencies.

Trial registration

The trial was registered at clinicaltrials.gov (NCT04922827, 11 June 2021) and at EudraCT (2021-002098-25, 19 May 2021).
The efficacy of micropulse laser combined with ranibizumab in diabetic macular edema treatment: study protocol for a randomized controlled trial
Authors: Mi Xuejing , Gu Xiaoya , Yu Xiaobing
Published: September 2022

Background

At present, intraocular injection of anti-VEGF (vascular endothelial growth factor) drugs has replaced traditional laser therapy as the first-line treatment for DME (diabetic macular edema). However, ranibizumab, a commonly used anti-VEGF drug, is expensive and requires multiple intraocular injections. It places a heavy economic burden on patients with DME. Micropulse laser is safer than conventional laser and can reduce edema. Combined treatment with anti-VEGF may reduce the number of intraocular injections. This study will compare the efficacy of micropulse laser combined with ranibizumab treatment to ranibizumab monotherapy in the treatment of DME, providing a new regimen for future DME treatment.

Methods

This study is a prospective randomized double-blind controlled clinical trial (RCT) in patients with DME. After 1-year follow-up, visual acuity and macular edema regression will be compared between micropulse laser combined with ranibizumab group and ranibizumab monotherapy group to determine whether the efficacy of micropulse laser combined with ranibizumab treatment was not lower than that of ranibizumab monotherapy in the treatment of DME. Visual acuity measured by the ETDRS chart is the primary outcome measure. The secondary outcome measures are CMT (central macular thickness) measured by OCT (optical coherence tomography) and the number of injections of two groups. Changes in visual acuity and CMT of the two groups will be compared at 12-month follow-up. Before patients are recruited, we provide them with informed consent, in which we explain to them the purpose and process of the study.

Discussion

Micropulse laser combined with anti-VEGF drugs in the treatment of DME can reduce the number of intravitreal anti-VEGF injections, not only relieve the pain of the patients, but also ease the economic and psychological burden of patients, bringing great benefits. However, there is no treatment consensus for the parameters and specific methods of micropulse laser treatment for DME. There is a lack of clinical research data reference of micropulse laser combined with anti-VEGF therapy in clinical practice. This study intends to provide a new direction for clinical DME treatment and also provide a realistic consideration for the application of micropulse laser in DME treatment.

Trial registration

ClinicalTrials.gov NCT03690947. Registered on 1 October 2018.
Placental growth fActor Repeat sampling for Reduction of adverse perinatal Outcomes in women with suspecTed pre-eclampsia: study protocol for a randomised controlled trial (PARROT-2)
Authors: Hurrell Alice , Sparkes Jenie , Duhig Kate , Seed Paul T. , Myers Jenny , Battersby Cheryl , Clark Katherine , Green Marcus , Hunter Rachael M. , Shennan Andrew H. , Chappell Lucy C. , Webster Louise
Published: September 2022

Background

Pre-eclampsia is a complex pregnancy disorder, characterised by new or worsening hypertension associated with multi-organ dysfunction. Adverse outcomes include eclampsia, liver rupture, stroke, pulmonary oedema, and acute kidney injury in the mother, and stillbirth, foetal growth restriction, and iatrogenic preterm delivery for the foetus. Angiogenic biomarkers, including placental growth factor (PlGF) and soluble fms-like tyrosine kinase 1 (sFlt-1), have been identified as valuable biomarkers for preterm pre-eclampsia, accelerating diagnosis and reducing maternal adverse outcomes by risk stratification, with enhanced surveillance for high-risk women. PlGF-based testing for suspected preterm pre-eclampsia has been incorporated into national guidance. The role of repeat PlGF-based testing and its effect on maternal and perinatal adverse outcomes have yet to be evaluated.

Methods

The PARROT-2 trial is a multi-centre randomised controlled trial of repeat revealed PlGF-based testing compared to repeat concealed testing, in women presenting with suspected pre-eclampsia between 22+0 and 35+6 weeks’ gestation. The primary objective is to establish whether repeat PlGF-based testing decreases a composite of perinatal severe adverse outcomes (stillbirth, early neonatal death, or neonatal unit admission). All women prior to enrolment in the trial will have an initial revealed PlGF-based test. Repeat PlGF-based tests will be performed weekly or two-weekly, depending on the initial PlGF-based test result, with results randomised to revealed or concealed.

Discussion

National guidance recommends that all women presenting with suspected preterm pre-eclampsia should have a single PlGF-based test when disease is first suspected, to help rule out pre-eclampsia. Clinical and cost-effectiveness of repeat PlGF-based testing has yet to be investigated. This trial aims to address whether repeat PlGF-based testing reduces severe maternal and perinatal adverse outcomes and whether repeat testing is cost-effective.

Trial registration

ISRCTN 85912420. Registered on 25 November 2019
Factors influencing performance and injury risk in elite female Gaelic team sport players and future research directions: a narrative review
Authors: Duggan John David , Collins Kieran , Keane Karen
Published: September 2022

Background

Sports science research in elite female Gaelic team sports has increased in recent years, but still a large disparity exists between the volume of studies involving male and female players. As a consequence of this, it is difficult for practitioners to develop an evidence-based approach when working with female players.

Main body

In this review, we discuss the current research available in elite female Gaelic team sports with focus on seven specific areas including physical and physiological demands, anthropometric and performance characteristics, injury risk, nutritional considerations, and female physiology. There appears to be unique physical demands data in match play across positions in Camogie, however, there is currently no comparative data available in ladies Gaelic football. Similarly, there is no research available on the physiological demands of both elite female Gaelic team sports. According to existing literature, performance characteristics such as speed and power are lower in this population compared to other elite female team sports. Although data is limited, the anthropometric characteristics of elite female Gaelic team sport players appear homogenous with some positional differences observed at a sub-elite level. Previous research has demonstrated a high prevalence of lower limb injuries in female elite Gaelic team sports and the provision of quality, evidence-based strength & conditioning could help mitigate these injury risks. Female Gaelic team sport players have been shown to have poor nutrition knowledge and inadequate intakes of micronutrients. Finally, although menstrual cycle phase and oral contraceptives have been shown to influence performance in other female intermittent sports, to date there has not been any research carried out in elite female Gaelic team sport players.

Conclusions

It is evident that limited research has been carried out on elite female Gaelic sport players. More up-to-date, high-quality investigations are needed to address the research gaps, which in turn should enable practitioners in the field to apply sound, evidence-based practice/theory when working with this population.
Hysteria in neurology: a diagnostic approach to conversive disorder
Authors: Sanz Giancola A. , Cuevas Iñiguez I. , Alvarez Garcia C. , Molina Liétor M.D.C. , Blanco Prieto M.
Published: September 2022

Introduction

Conversion disorder (a term that describes what was previously called hysteria) refers to motor or sensory symptoms, or both, that resemble a neurological disease, but that do not originate from or cannot be explained by a known physical disease.

Objectives

To find reliable tools that can guide the difficult diagnosis of conversion disorder.

Methods

Bibliographic review

Results

The exact prevalence of the disorder is unknown. It is estimated that approximately 5% of referrals to neurology are for this disorder. Approximately one third of patients referred to the neurologist have symptoms that cannot be explained by an organic disease. Involuntary movements are the most common motor manifestations of the conversive syndrome, being tremor one of the most frequent manifestations. The first differential diagnosis of conversion disorder is neurological disease. It is currently not necessary for the diagnosis to assess whether or not the symptoms are produced intentionally, as the assessment of conscious intentionality is unreliable. The neurological examination is the fundamental tool for the diagnostic approach, being even more enlightening than the complementary tests. Hoover’s sign, Babinski’s combined leg flexion, plantar flexion of the ankle, tremor and its distraction and synchronisation manoeuvres, as well as the clinical differences between epileptic seizures and non-epileptic seizures of psychogenic origin, are some of the reliable tools for a correct diagnosis.

Conclusions

The diagnosis of the disease should be one of exclusion. There must be clinical data showing clear evidence of incompatibility with a neurological disease and conversion symptoms do not correspond to known physiological mechanisms and anatomical pathways.

Disclosure

No significant relationships.
Epileptic Seizures or not, that is the question: a case report
Authors: Wildenberg B. , Pereira D. , Carvalho I. , Madeira N.
Published: September 2022

Introduction

Psychogenic nonepileptic seizures (PNES) consist of paroxysmal changes in responsiveness, movements, or behaviour that superficially resemble epileptic seizures.

Objectives

Presentation of a clinical case of a PNES in a patient with a diagnose of secondary epilepsy, illustrating the relevance of an adequate evaluation, differential diagnosis, and intervention.

Methods

Description of the clinical case, with brief literature review and discussion. A search was conducted on PubMed and other databases, using the MeSH terms “nonepileptic seizure”, and “epileptic seizure”.

Results

We report the case of a 45-year-old female patient, brought to the emergency department because of tonic axial and limb nonsynchronous movements, closed eyes, long duration, with immediate awareness, no desaturation, tongue bite, facial flushing, dyspnoea or sphincter incontinency. She was medicated with clonazepam 1 mg and levetiracetam 1000 mg ev. TC-CE had no acute alteration. Bloodwork had no other major alteration except valproic acid below therapeutic levels (her usual medication, along with other antiepileptic drugs, antidepressant and antipsychotic). The antecedents of the patient: mild intellectual disability and an accidental traumatic brain injury in infancy, with secondary epilepsy. She was transferred to Psychiatry department. No electroencephalogram (EEG) was realized, because she had a recent one confirming PNES, and many other emergency observations with the diagnosis of PNES.

Conclusions

This clinical case showcases the diagnostic difficulties that clinicians face when there is an overlap in symptoms, emphasizing the need to combine patient history, witness reports, clinician observations, and ictal and interictal EEG to help distinguish these different clinical identities.

Disclosure

No significant relationships.
Functional Neurological Disorder: a multidisciplinary approach
Authors: Alvarez Garcia C. , Gomez Martín A. , Molina Liétor M.D.C. , Cuevas Iñiguez I. , Sanz Giancola A.
Published: September 2022

Introduction

Functional neurological disorders (FNDs), also known as “conversion disorder”, consist in the appearance of neurological symptoms that do not correspond to any medical condition and produces an impairment in social, occupational and other areas in the patient’s life. This disorder can represent up to 30% of neurologist’s consultation. We introduce the case of a 23-year-old man who attended the emergency services due to fainting and was finally diagnosed with FND.

Objectives

To summarize the difficulties of making a diagnosis of FND and the importance of a multidisciplinary approach.

Methods

A narrative review through the presentation of a case.

Results

The patient presented many absence seizures during his stay in the hospital. These episodes were characterized by non-reactivity, dysarthria, tremors, tachycardia and hyperventilation. The neurological examination and imaging tests didn’t show any pathological findings. During the psychiatric interview he revealed he had lived a severe conflict with his brothers the previous week and he was being excluded within his family. Furthermore he didn’t have any social support besides his mother in the city he was living, leading this situation to an incrementation of anxiety. Due to the absence of any abnormalities in the examination and recent psychological conflict that was affecting him, FND diagnose was made.

Conclusions

Very frequently the absence of a clear psychological trigger and the presence of neurological alterations can hinder the study of the patient. This makes necessary a multidisciplinary approach and the knowledge of signs that can help to carry out an accurate diagnosis.

Disclosure

No significant relationships.
Role of DSM5 Anxious Distress Specifier Interview in symptoms severity and medication adherence in 1st episode mania
Authors: El Sayed S. , Gomaa S. , Gomaa Z.
Published: September 2022

Introduction

-Anxious Distress Specifier is one of the newly added specifier in diagnosis and managment of bipolar disorder.This unique item may paly a role in not only the symptoms severity but also the degree of adherence to the psychotropics. -DSM5 Anxious distress specifier is not well studied in the 1st manic episode of bipolar disorder.

Objectives

1-To study the role of DSM5 Anxious Distress Specifier in the symptoms severity of 1st diagnosed manic episode 2-To investigate its role in medication adherence in thses patients

Methods

1-DSM 5 Anxious distress specifier interview which includes 5 items : a- Keyed up or tense b-Restlessness c-Impaired concentration. d-Sense of foreboding e-Loss of control 2-The Young Mania Rating Scale (YMRS) is one of the most frequently utilized rating scales to assess manic symptoms. The scale has 11 items and is based on the patient’s subjective report of his or her clinical condition 3-Drug Attitude Inventory:consists of a questionnaire that is completed by the patient, pertaining to various aspects of the patient’s perceptions and experiences of treatment.

Results

1-There is a positive correlation between the mean score of Young mania Rating scale in 1st episode manic patients and the mean score of DSM5 Anxious Distress specifier Interview 2-The presence of high score of DSM5 Anxious Distress Specifier Interview is positively correlated to the mean score of Drug Attitude Inventory during the follow up visits after controlling the 1st episode mania

Conclusions

The presence of high levels of Anxious Distress in the 1st episde mania affected the symptoms severity and medication adherence

Disclosure

No significant relationships.