bluuebunny/crossref_metadata_2025 huggingface dataset:
Cervical neuroendocrine carcinoma in the third trimester: a rare case report and literature review
Authors: Chen Gezi , Huang Kai , Sun Jinglei , Yang Lei
Published: August 2023

Background

The incidence of cervical neuroendocrine carcinoma (CNECC) during pregnancy is extremely rare. Insufficient awareness of gynecological tumor screening, as well as atypical and insidious initial clinical symptoms, may result in diagnostic delays and misdiagnosis. There is no standardized treatment for cervical cancer in pregnancy. Herein, we present a case of cervical neuroendocrine carcinoma diagnosed in the third trimester of pregnancy.

Case presentation

A 26-year-old female at 30 1/7 weeks of gestation presented with lower back and sacroiliac joint pain, abdominal distension, and lower limb dyskinesia. A pelvic examination revealed a large fungating gray mass that encompassed the entire cervix, with cervical contact bleeding testing positive. Imaging studies showed a significant cervical mass, diffuse liver changes, and metastasis to multiple sites. Biopsy results revealed poorly differentiated cervical carcinoma exhibiting high-grade neuroendocrine features, consistent with a diagnosis of large cell neuroendocrine carcinoma. The patient was diagnosed with stage IVB CNECC with HPV18 (+), and due to the gestational age of the fetus and her deteriorating condition, she underwent cesarean section delivery after receiving fetal lung maturation therapy. Following surgery, eight cycles of neoadjuvant chemotherapy were applied. Unfortunately, she succumbed to multiple tumor metastases six months post-treatment. Despite this tragic outcome, the infant was discharged in a healthy condition.

Conclusions

CNECC during pregnancy, particularly the large-cell type, is an ultra-rare condition with poor prognosis. This case highlights the importance of individualized treatment approach and the need for better screening, early detection, and treatment. Given the rarity of the disease, further research is warranted to determine the prognostic factors and develop effective treatment strategies for this ultra-rare and aggressive malignancy.
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer
Authors: Öfverholm Anna , Törngren Therese , Rosén Anna , Arver Brita , Einbeigi Zakaria , Haraldsson Karin , Ståhlbom Anne Kinhult , Kuchinskaya Ekaterina , Lindblom Annika , Melin Beatrice , Paulsson-Karlsson Ylva , Stenmark-Askmalm Marie , Tham Emma , von Wachenfeldt Anna , Kvist Anders , Borg Åke , Ehrencrona Hans
Published: August 2023

Background

Genetic screening for pathogenic variants (PVs) in cancer predisposition genes can affect treatment strategies, risk prediction and preventive measures for patients and families. For decades, hereditary breast and ovarian cancer (HBOC) has been attributed to PVs in the genes BRCA1 and BRCA2, and more recently other rare alleles have been firmly established as associated with a high or moderate increased risk of developing breast and/or ovarian cancer. Here, we assess the genetic variation and tumor characteristics in a large cohort of women with suspected HBOC in a clinical oncogenetic setting.

Methods

Women with suspected HBOC referred from all oncogenetic clinics in Sweden over a six-year inclusion period were screened for PVs in 13 clinically relevant genes. The genetic outcome was compared with tumor characteristics and other clinical data collected from national cancer registries and hospital records.

Results

In 4622 women with breast and/or ovarian cancer the overall diagnostic yield (the proportion of women carrying at least one PV) was 16.6%. BRCA1/2 PVs were found in 8.9% of women (BRCA1 5.95% and BRCA2 2.94%) and PVs in the other breast and ovarian cancer predisposition genes in 8.2%: ATM (1.58%), BARD1 (0.45%), BRIP1 (0.43%), CDH1 (0.11%), CHEK2 (3.46%), PALB2 (0.84%), PTEN (0.02%), RAD51C (0.54%), RAD51D (0.15%), STK11 (0) and TP53 (0.56%). Thus, inclusion of the 11 genes in addition to BRCA1/2 increased diagnostic yield by 7.7%. The yield was, as expected, significantly higher in certain subgroups such as younger patients, medullary breast cancer, higher Nottingham Histologic Grade, ER-negative breast cancer, triple-negative breast cancer and high grade serous ovarian cancer. Age and tumor subtype distributions differed substantially depending on genetic finding.

Conclusions

This study contributes to understanding the clinical and genetic landscape of breast and ovarian cancer susceptibility. Extending clinical genetic screening from BRCA1 and BRCA2 to 13 established cancer predisposition genes almost doubles the diagnostic yield, which has implications for genetic counseling and clinical guidelines. The very low yield in the syndrome genes CDH1, PTEN and STK11 questions the usefulness of including these genes on routine gene panels.
Adverse childhood experiences, traumatic events, and mental health among adults at two outpatient psychiatric facilities in Johannesburg, South Africa: a cross-sectional analysis
Authors: Byansi William , Galvin Michael , Chiwaye Lesley , Luvuno Zoleka , Kim Andrew W. , Sundararajan Radhika , Tsai Alexander C. , Moolla Aneesa
Published: August 2023

Background

Adverse childhood experiences and adult trauma, including sexual abuse, physical abuse, neglect, and interpersonal violence, are highly prevalent in low-resource settings and associated with adverse psychological outcomes. However, there is limited focus on the impact of ACEs and trauma on mental health in sub-Saharan Africa. Therefore, this study examines the impact of traumatic events and ACEs on depression, anxiety, and stress scores among outpatients receiving psychiatric care at two public mental health treatment facilities in Johannesburg, South Africa.

Methods

A sample of 309 participants were recruited between January and June 2022 at Helen Joseph Hospital and Alexandra 18th Avenue Clinic. Participants completed screening measures for mental health outcomes, including the 9-item Patient Health Questionnaire (PHQ-9), the 7-item General Anxiety Disorder scale (GAD-7) and the 10-item Perceived Stress Scale. We fitted modified Poisson and linear regression models to estimate the impact of ACEs and adult experiences of trauma on depression, anxiety, and stress scale scores.

Results

47.57% (n = 147) of participants screened positive for anxiety, 44.66% (n = 138) for depression, and 17% (n = 54) for severe stress. More females screened positive for anxiety (65.31%), depression (65.94%), and stress (77.78%). Each ACE was associated with a 12% increased risk of depression, a 10% increased risk of anxiety, and a 17% increased risk of stress. In separately estimated models, each additional traumatic event during adulthood was associated with a 16% increased risk for depression, an 8% increased risk of anxiety, and a 26% increased risk of stress. Across all models, being male and self-reported physical health were consistently associated with a reduced risk for depression, anxiety, and stress.

Conclusions

ACEs and experiences of traumatic events as adults were associated with significantly increased risks of anxiety, depression, and severe stress. Given high exposure to ACEs and trauma and the associated impact on the mental health of individuals, families, and communities, there is a need to strengthen and scale innovative combination interventions that address multiple stressors impacting people in low-resource settings.
Association between metabolic healthy obesity and female infertility: the national health and nutrition examination survey, 2013–2020
Authors: Tang Jing , Xu Yun , Wang Zhaorui , Ji Xiaohui , Qiu Qi , Mai Zhuoyao , Huang Jia , Ouyang Nengyong , Chen Hui
Published: August 2023

Background

Obesity has been confirmed to be associated with infertility. However, the association between metabolically healthy obesity (MHO), a subset of obesity with no metabolic abnormalities, and female infertility has not yet been investigated. This study aimed to examine the association between MHO and the risk of female infertility among United States.

Methods

This study utilized a cross-sectional design and included 3542 women aged 20–45 years who were selected from the National Health and Nutrition Examination Survey (NHANES) 2013–2020 database. The association between MHO and the risk of infertility was evaluated using risk factor–adjusted logistic regression models.

Results

Higher BMI and WC were associated with increased infertility risk after adjusting for potential confounding factors (OR (95% CI): 1.04(1.02, 1.06), P = 0.001; OR (95% CI): 1.02 (1.01, 1.03), P < 0.001; respectively). After cross-classifying by metabolic health and obesity according to BMI and WC categories, individuals with MHO had a higher risk of infertility than those with MHN (OR (95% CI): 1.75(0.88, 3.50) for BMI criteria; OR (95% CI): 2.01(1.03, 3.95) for WC criteria). A positive linear relationship was observed between BMI/WC and infertility risk among metabolically healthy women (Pnon−linearity=0.306, 0.170; respectively).

Conclusions

MHO was associated with an increased risk of infertility among reproductive-aged women in the US. Obesity itself, regardless of metabolic health status, was associated with a higher infertility risk. Our results support implementing lifestyle changes aimed at achieving and maintaining a healthy body weight in all individuals, even those who are metabolically healthy.
The relationship between dietary patterns and blood mineral concentration among children in Hunan Province of China
Authors: Yin Xiao-chen , Wang Wei-feng , Li Zi-min , Duan Yu-jie , Chen Ming , Wu Yuan-ni , Hu Yu-ming
Published: August 2023

Background

Minerals have crucial biological functions in metabolism and are primarily obtained through diet. As a result, various dietary patterns can impact blood mineral levels. The aim of this study was to investigate the correlation between dietary patterns and the concentration of calcium, magnesium, iron, zinc, and copper in the bloodstream.

Methods

Three hundred eighty healthy children (53.7% male) were recruited in a region of Hunan Province in September 2019. We gathered basic information and measured physical proportions, along with completing a food frequency questionnaire (FFQ). Using principal component analysis (PCA), we determined dietary patterns. To analyze mineral levels in the blood, we used flame atomic absorption spectrometry (FAAS). We utilized linear regression models to investigate if certain dietary patterns are related to mineral concentration.

Results

Three dietary patterns were identified: ‘Vegetables/Nuts,’ ‘Snacks/Beverages,’ and ‘Cereal/Beans.’ Children from high-income families (annual average income > 50,000 yuan) prefer the ‘Vegetables/Nuts’ dietary pattern (P = 0.004). In comparison, those from low-income families (annual average income < 20,000 yuan) prefer the ‘Snacks/Beverages’ dietary pattern (P = 0.03). Following adjustment for age, gender, guardian’s identity, education level, and annual household income. We found that an increase in the ‘Vegetables/Nuts’ pattern score (β = 0.153, CI: 0.053 ~ 0.253; P = 0.003) and ‘Snacks/Beverages’ pattern score (β = 0.103, CI: 0.002 ~ 0.204; P = 0.033) were significantly associated blood copper concentration.

Conclusions

Household income was found to be associated with dietary behavior. Furthermore, higher blood copper concentration was significantly correlated with the ‘Vegetables/Nuts’ dietary pattern and ‘Snacks/Beverages’ dietary pattern, but the correlation is extremely low.
Reliability of the respiratory rate and oxygenation index for successful high-flow nasal cannula support in coronavirus disease pneumonia: a retrospective cohort study
Authors: Hirabayashi Ryosuke , Nagata Kazuma , Sato Yuki , Nakagawa Atsushi , Tachikawa Ryo , Kuroda Hirokazu , Seo Ryutaro , Morimoto Takeshi , Tomii Keisuke
Published: August 2023

Background

High-flow nasal cannula (HFNC) therapy is an important non-invasive respiratory support in acute respiratory failure, including coronavirus disease (COVID-19) pneumonia. Although the respiratory rate and oxygenation (ROX) index is a simple and useful predictor for HFNC failure and mortality, there is limited evidence for its use in patients with COVID-19 pneumonia. We aimed to evaluate the ROX index as a predictor for HFNC failure in patients with COVID-19 pneumonia. We also evaluated the ROX index as a predictor for 28-day mortality.

Methods

In this single-center, retrospective, cohort study, 248 patients older than 18 years of age with COVID-19 pneumonia received HFNC therapy for acute respiratory failure. The ROX index was evaluated within 4 h from the start of HFNC therapy. Past medical history, laboratory data, and the ROX index were evaluated as predictors for HFNC failure and 28-day mortality.

Results

The ROX index < 4.88 showed a significantly high risk ratio for HFNC failure (2.13 [95% confidence interval [CI]: 1.47 – 3.08], p < 0.001). The ROX index < 4.88 was significantly associated with 28-day mortality (p = 0.049) in patients with COVID-19 pneumonia receiving HFNC therapy. Age, chronic hypertension, high lactate dehydrogenase level, and low ROX index showed significantly high risk ratio for HFNC failure. C-reactive protein level and low ROX index were predictors of 28-day morality.

Conclusion

The ROX index is a useful predictor for HFNC success and 28-day mortality in patients with COVID-19 pneumonia receiving HFNC therapy.

Trial registration

An independent ethics committee approved the study (Research Ethics Review Committee of Kobe City Medical Center General Hospital [number: zn220303; date: February 21, 2022]), which was performed in accordance with the Declaration of Helsinki, Guidelines for Good Clinical Practice.
Correlation between strength/endurance of paraspinal muscles and sagittal parameters in patients with degenerative spinal deformity
Authors: Chen Can , Yang Sen , Tang Yong , Yu Xueke , Chen Chunhua , Zhang Chengmin , Luo Fei
Published: August 2023

Background

Sagittal imbalance is a common cause of low back pain and dysfunction in patients with degenerative spinal deformity (DSD), which greatly affects their quality of life. Strength and endurance are important functional physical indexes for assessing muscle condition. However, the correlation between sagittal parameters and paraspinal muscle strength/endurance is not yet clear. The purpose of this study was to analyze the correlation between strength/endurance of paraspinal muscles and sagittal parameters in patients with DSD.

Methods

There were 105 patients with DSD and 52 healthy volunteers (control group) enrolled. They were divided into the balance group [sagittal vertical axis (SVA) < 5 cm, n = 68] and imbalance group (SVA ≥ 5 cm, n = 37). The maximal voluntary exertion (MVE)/Endurance time (ET) of paravertebral muscles were assessed using the prone position test stand, and the sagittal parameters of the subjects were measured, namely, SVA, thoracic kyphosis (TK), lumbar lordosis (LL), pelvic incidence (PI), pelvic tilt (PT), and sacral slope (SS). Pearson coefficients were used to assess the correlation between paraspinal muscle MVE/ET and sagittal parameters.

Results

MVE and ET of paravertebral muscles in the control group were significantly higher than those in the balance and imbalance groups (P < 0.05), whereas MVE in the balance group was significantly higher than that in the imbalance group (P < 0.05). SVA in the imbalance group was significantly higher than those in the control and balance groups (P < 0.05). SS and TK in the control group were significantly higher than those in the imbalance group (P < 0.05), and PT and PI in the control group were significantly lower than those in the balance and imbalance groups (P < 0.05). LL in the imbalance group was significantly lower than that in the balance and control groups (P < 0.05). MVE, MVE/BH, and MVE/BW of paraspinal muscles in the imbalance group were negatively correlated with SVA and PT. Moreover, they were positively correlated with LL.

Conclusions

Deformity may cause the decrease of MVE and ET of paraspinal muscles in the prone position in patients with DSD. Furthermore, the decline in MVE of paraspinal muscles may be a predisposing factor for the imbalance observed. The decrease of MVE/BW of paraspinal muscles may be involved in spinal compensation, and it is a sensitive indicator for sagittal imbalance and lumbar lordosis.
The Swedish version of the STarT MSK Tool: cross-cultural adaption, test–retest reliability, and aspects of validity
Authors: Rasmussen-Barr Eva , Sövelid Maria , Krantz Rasmus , Hill Jonathan C.
Published: August 2023

Background

Musculoskeletal disorders (MSDs) are a common reason for seeking primary health care. The STarT Musculoskeletal (MSK) tool is designed to stratify patients suffering from MSDs to risk groups, based on prognostic factors.

Aim

The aim was to translate and cross-culturally adapt the STarT MSK tool in a Swedish primary health care context through testing of reliability and construct validity.

Methods

We included consecutive patients with MSDs seeking primary care (n = 99). The STarT MSK was translated using international recommendations. Construct validity was investigated by correlation analysis (Spearmans Rho) with the following reference instruments: the Örebro Musculoskeletal Pain Questionnaire (ÖMPQ), the EuroQol 5-dimension (EQ-5D) and the Musculoskeletal Health Questionnaire (MSKHQ). Reliability was tested using test–retest (Intra Class Correlation, ICC2.1) (n = 31). Known-groups validity was calculated with a difference of 10% between risk groups based on how the participants had answered.

Results

The STarT MSK was successfully translated into Swedish. The participants were grouped into low risk (n = 28), medium risk (n = 60) and high risk (n = 11). The construct validity showed a moderate to high correlation with the ÖMPQ (r = .61), EQ-5D (r = .59) and MSK-HQ (r = .56). All separate items except item 2 and 9 correlated according to predefined hypotheses. Test–retest demonstrated an excellent reliability for the total score (ICC2.10.85) (n = 31). The STarT MSK tool was able to differentiate by 10% between the risk groups, based on how the participants had answered.

Conclusion

The STarT MSK has been successfully translated and adapted into Swedish and shows acceptable measurement properties regarding test–retest reliability and aspects of validity and seems to be able to discriminate between the proposed risk groups. The tool can therefore be useful in a Swedish primary health care context. A future study needs to determine the tools predictive validity and to investigate if stratification to risk groups leads to a faster recovery and to lower health care costs.
Effectiveness of ultrasound-guided dual nerve block in the below-knee amputation
Authors: Huh Jung Wook , Kim Min Woo , Noh Young Min , Seo Han Eol , Lee Dong Ha
Published: August 2023

Purpose

Below knee amputation (BKA) is a common surgical procedure for diabetic foot ulcers and necrotizing lower limb fasciitis patients. However, it is a painful procedure and inadequate postoperative analgesia impedes rehabilitation and prolongs hospitalization. An ideal pain management regimen should provide superior analgesia while minimizing opioid consumption and improving rehabilitation.

Methods

We retrospectively reviewed medical charts of 218 patients who underwent BKA for diabetic foot ulcer or necrotizing lower limb fasciitis at a single center between January 2017 and September 2020. Two groups were analyzed: patients who received dual nerve block (DNB) before surgery (Group I; n = 104), and patients who did not (Group II; n = 93). By the exclusion criteria, 21 patients were excluded. The femoral and sciatic nerves were each blocked separately under ultrasound guidance. This procedure was performed immediately before the operation.

Results

Group I patients' subjective pain scores were significantly lower than that of Group II at 6, 12, and 24 h after BKA (P < 0.05). Group I’s morphine milligram equivalent (MME) was significantly lower than those of Group II at 72 h after BKA (P < 0.05). Moreover, the rate of postoperative nausea and vomiting (PONV) and delirium was significantly lower in Group I patients than that in Group II patients.

Conclusion

Ultrasound-guided lower extremity nerve block surgery is excellent for early postoperative pain control, could be used as an accurate and effective pain control method, and can reduce the side effects of opioid consumption after BKA.
Accurate mandibular canal segmentation of dental CBCT using a two-stage 3D-UNet based segmentation framework
Authors: Lin Xi , Xin Weini , Huang Jingna , Jing Yang , Liu Pengfei , Han Jingdan , Ji Jie
Published: August 2023

Objectives

The objective of this study is to develop a deep learning (DL) model for fast and accurate mandibular canal (MC) segmentation on cone beam computed tomography (CBCT).

Methods

A total of 220 CBCT scans from dentate subjects needing oral surgery were used in this study. The segmentation ground truth is annotated and reviewed by two senior dentists. All patients were randomly splitted into a training dataset (n = 132), a validation dataset (n = 44) and a test dataset (n = 44). We proposed a two-stage 3D-UNet based segmentation framework for automated MC segmentation on CBCT. The Dice Similarity Coefficient (DSC) and 95% Hausdorff Distance (95% HD) were used as the evaluation metrics for the segmentation model.

Results

The two-stage 3D-UNet model successfully segmented the MC on CBCT images. In the test dataset, the mean DSC was 0.875 ± 0.045 and the mean 95% HD was 0.442 ± 0.379.

Conclusions

This automatic DL method might aid in the detection of MC and assist dental practitioners to set up treatment plans for oral surgery evolved MC.
The relationship between mental fatigue and social responsibility among nurses who provided care to patients with coronavirus disease 2019: a cross-sectional study
Authors: Salmani Soheileddin , Salehpoor Emran Mohammad , Sadooghiasl Afsaneh , Haghani Shima , Pashaeypoor Shahzad
Published: August 2023

Background and Aim

Mental fatigue (MF) was a major challenge for nurses during the coronavirus disease 2019 (COVID-19) pandemic. Nurses’ sense of responsibility towards their patients and societies may influence their MF. This study aimed to assess the relationship between MF and social responsibility (SR) among nurses who provided care to patients with COVID-19.

Methods

This cross-sectional descriptive-analytical study was conducted in 2021. Participants were 258 nurses randomly selected from eleven COVID-19 care hospitals in Tehran, Iran. Data were collected using three self-report instruments, namely a demographic questionnaire, the Mental Fatigue Scale, and the Social Responsibility Questionnaire. The SPSS software (v. 16.0) was used to analyze the data at a significance level of less than 0.05.

Results

The mean scores of MF and SR were 31.73 ± 7.35 and 3.45 ± 0.35, respectively. The highest and the lowest scored SR subscales were ethical responsibilities with a mean of 3.67 ± 0.42 and economic responsibilities with a mean of 2.93 ± 0.62. MF had a significant negative correlation with legal responsibilities and a significant positive correlation with economic responsibilities (P < 0.05). The only significant predictor of SR was financial status which significantly predicted 4.3% of the variance of SR (P < 0.05).

Conclusion

More than half of the nurses who provided care to patients with COVID-19 suffered from MF and their mental fatigue had a significant correlation with their legal and economic responsibilities. Healthcare authorities and policymakers need to develop programs to reduce nurses’ MF and improve their satisfaction.
Introducing standard patient-reported measures (PRMs) into routine maternity care: A pre-implementation qualitative study on women’s perspectives in Finland
Authors: Väyrynen Kirsi , Chen An , Leskelä Riikka-Leena , Raussi-Lehto Eija , Klemetti Reija , Heinonen Seppo , Torkki Paulus , Tekay Aydin
Published: August 2023

Background

Systematically using standard patient-reported measures (PRMs) in clinical routines is trending. The International Consortium for Health Outcomes Measurement (ICHOM) has developed condition-specific standard sets of patient-centred measures, one of which is the Pregnancy and Childbirth Standard (PCB) set, where standard PRMs are included. There is limited knowledge on the use of ICHOM PCB set-included PRMs (ICHOM-PCB-PRMs) in routine care. This study investigates women’s perspectives on the future implementation of standard ICHOM-PCB-PRMs in routine maternity care in Finland.

Methods

Semi-structured interviews were conducted. Pregnant and postpartum women were asked to evaluate each ICHOM-PCB-PRM in several dimensions, e.g., importance and quality of questions, and to provide their views on future implementation in terms of benefits, difficulties, and practices. With the predefined topics and themes, deductive analysis was applied. Ethical committee approval (HUS 220/880/2015) and research permissions were obtained.

Results

22 women participated. Participants felt that most of the ICHOM-PCB-PRMs were important, relevant, understandable, and appropriately designed, and agreed that some changes in ICHOM-PCB-PRMs were needed, e.g., adding other important measures, changing the wording, and adding open-ended questions. Women would be hesitant to answer questions honestly if follow-up actions were unclear. Most “outcome” measures could be asked repeatedly as maternal health status changes over time, and “experience” measures could be asked separately for different service providers. Disagreements regarding data collection at birth were observed. PRMs were regarded as a way for women to express their thoughts and feelings. Our participants were concerned about the possible consequences of negatively answering the PREMs questions and the availability of follow-up care. Participants expected that they could answer short and easy questions digitally before appointments, and that instructions and follow-up actions based on their answers should be available.

Conclusion

ICHOM-PCB-PRMs could be applicable in Finnish maternity care, but some modifications may be required. Careful consideration is needed regarding how and when PRMs questions are asked for eliciting more accurate and honest answers and minimizing women feeling judged, embarrassed, or offended. Follow-ups should be available according to women’s responses and needs. This study provides insights on the adoption and implementation of standard PRMs in routine maternity care.
Benefits and challenges of telemedicine for heart failure consultations: a qualitative study
Authors: Singhal Arvind , Riley Jillian P. , Cowie Martin R.
Published: August 2023

Background

Prior to the Covid-19 pandemic, heart failure (HF) disease management programmes were predominantly delivered in-person, with telemedicine being uncommon. Covid-19 resulted in a rapid shift to “remote-by-default” clinic appointments in many organisations. We evaluated clinician and patient experiences of teleconsultations for HF.

Methods

From 16th March 2020, all HF appointments at a specialist centre in the UK were telemedicine-by-default through a mixture of telephone and video consultations, with rare in-person appointments. HF clinicians and patients with HF were invited to participate in semi-structured interviews about their experiences. A purposive sampling technique was used. Interviews were conducted using Microsoft Teams®, recorded and transcribed verbatim. Narrative data were explored by thematic analysis. Clinicians and patients were interviewed until themes saturated.

Results

Eight clinicians and eight patients with HF were interviewed before themes saturated. Five overarching themes emerged: 1) Time utilisation – telemedicine consultations saved patients time travelling to and waiting for appointments. Clinicians perceived them to be more efficient, but more administrative time was involved. 2) Clinical assessment – without physical examination, clinicians relied more on history, observations and test results; video calls were perceived as superior to telephone calls for remote assessment. Patients confident in self-monitoring tended to be more comfortable with telemedicine. 3) Communication and rapport – clinicians experienced difficulty establishing rapport with new patients by telephone, though video was better. Patients generally did not perceive that remote consultation affected their rapport with clinicians. 4) Technology – connection issues occasionally disrupted video consultations, but overall patients and clinicians found the technology easy to use. 5) Choice and flexibility – both patients and clinicians believed that the choice of modality should be situation-dependent.

Conclusions

Telemedicine HF consultations were more convenient for patients, saved them time, and were generally acceptable to clinicians, but changed workflows, consultation dynamics, and how clinical assessment was performed. Telemedicine should be used alongside in-person appointments in a “hybrid” model tailored to individual patients and settings.
Competing risks analysis for neutrophil to lymphocyte ratio as a predictor of diabetic retinopathy incidence in the Scottish population
Authors: Rajendrakumar Aravind Lathika , Hapca Simona M. , Nair Anand Thakarakkattil Narayanan , Huang Yu , Chourasia Mehul Kumar , Kwan Ryan Shun-Yuen , Nangia Charvi , Siddiqui Moneeza K. , Vijayaraghavan Prathiba , Matthew Shona Z. , Leese Graham P. , Mohan Viswanathan , Pearson Ewan R. , Doney Alexander S. F. , Palmer Colin N. A.
Published: August 2023

Background

Diabetic retinopathy (DR) is a major sight-threatening microvascular complication in individuals with diabetes. Systemic inflammation combined with oxidative stress is thought to capture most of the complexities involved in the pathology of diabetic retinopathy. A high level of neutrophil–lymphocyte ratio (NLR) is an indicator of abnormal immune system activity. Current estimates of the association of NLR with diabetes and its complications are almost entirely derived from cross-sectional studies, suggesting that the nature of the reported association may be more diagnostic than prognostic. Therefore, in the present study, we examined the utility of NLR as a biomarker to predict the incidence of DR in the Scottish population.

Methods

The incidence of DR was defined as the time to the first diagnosis of R1 or above grade in the Scottish retinopathy grading scheme from type 2 diabetes diagnosis. The effect of NLR and its interactions were explored using a competing risks survival model adjusting for other risk factors and accounting for deaths. The Fine and Gray subdistribution hazard model (FGR) was used to predict the effect of NLR on the incidence of DR.

Results

We analysed data from 23,531 individuals with complete covariate information. At 10 years, 8416 (35.8%) had developed DR and 2989 (12.7%) were lost to competing events (death) without developing DR and 12,126 individuals did not have DR. The median (interquartile range) level of NLR was 2.04 (1.5 to 2.7). The optimal NLR cut-off value to predict retinopathy incidence was 3.04. After accounting for competing risks at 10 years, the cumulative incidence of DR and deaths without DR were 50.7% and 21.9%, respectively. NLR was associated with incident DR in both Cause-specific hazard (CSH = 1.63; 95% CI: 1.28–2.07) and FGR models the subdistribution hazard (sHR = 2.24; 95% CI: 1.70–2.94). Both age and HbA1cwere found to modulate the association between NLR and the risk of DR.

Conclusions

The current study suggests that NLR has a promising potential to predict DR incidence in the Scottish population, especially in individuals less than 65 years and in those with well-controlled glycaemic status.
Elevated urine albumin creatinine ratio increases cardiovascular mortality in coronary artery disease patients with or without type 2 diabetes mellitus: a multicenter retrospective study
Authors: Lin Xueqin , Song Wei , Zhou Yang , Gao Yuwei , Wang Yani , Wang Yun , Liu Yuchen , Deng Lin , Liao Yin , Wu Bo , Chen Shiqun , Chen Liling , Fang Yong
Published: August 2023

Background

Albuminuria has been suggested as an atherosclerotic risk factor among the general population. However, whether this association will be amplified in patients with coronary artery disease (CAD) is unknown. It is also unknown whether diabetes mellitus confounds the association. We aim to analyse the prognosis of elevated urine albumin creatinine ratio (uACR) in the CAD population with or without type 2 diabetes mellitus (T2DM).

Methods

This multi-center registry cohort study included 5,960 patients with CAD. Patients were divided into T2DM and non-T2DM group, and baseline uACR levels were assessed on three grades (low: uACR < 10 mg/g, middle: 10 mg/g ≤ uACR < 30 mg/g, and high: uACR ≥ 30 mg/g). The study endpoints were cardiovascular mortality and all-cause mortality.

Results

During the median follow-up of 2.2 [1.2–3.1] years, 310 (5.2%) patients died, of which 236 (4.0%) patients died of cardiovascular disease. CAD patients with elevated uACR had a higher risk of cardiovascular mortality (middle: HR, 2.32; high: HR, 3.22) than those with low uACR, as well as all-cause mortality. Elevated uACR increased nearly 1.5-fold risk of cardiovascular mortality (middle: HR, 2.33; high: HR, 2.34) among patients without T2DM, and increased 1.5- fold to 3- fold risk of cardiovascular mortality in T2DM patients (middle: HR, 2.49; high: HR, 3.98).

Conclusions

Even mildly increased uACR could increase the risk of cardiovascular mortality in patients with CAD, especially when combined with T2DM.
The 18S rRNA genes of Haemoproteus (Haemosporida, Apicomplexa) parasites from European songbirds with remarks on improved parasite diagnostics
Authors: Harl Josef , Himmel Tanja , Ilgūnas Mikas , Valkiūnas Gediminas , Weissenböck Herbert
Published: August 2023

Background

The nuclear ribosomal RNA genes of Plasmodium parasites are assumed to evolve according to a birth-and-death model with new variants originating by duplication and others becoming deleted. For some Plasmodium species, it has been shown that distinct variants of the 18S rRNA genes are expressed differentially in vertebrate hosts and mosquito vectors. The central aim was to evaluate whether avian haemosporidian parasites of the genus Haemoproteus also have substantially distinct 18S variants, focusing on lineages belonging to the Haemoproteus majoris and Haemoproteus belopolskyi species groups.

Methods

The almost complete 18S rRNA genes of 19 Haemoproteus lineages of the subgenus Parahaemoproteus, which are common in passeriform birds from the Palaearctic, were sequenced. The PCR products of 20 blood and tissue samples containing 19 parasite lineages were subjected to molecular cloning, and ten clones in mean were sequenced each. The sequence features were analysed and phylogenetic trees were calculated, including sequence data published previously from eight additional Parahaemoproteus lineages. The geographic and host distribution of all 27 lineages was visualised as CytB haplotype networks and pie charts. Based on the 18S sequence data, species-specific oligonucleotide probes were designed to target the parasites in host tissue by in situ hybridization assays.

Results

Most Haemoproteus lineages had two or more variants of the 18S gene like many Plasmodium species, but the maximum distances between variants were generally lower. Moreover, unlike in most mammalian and avian Plasmodium species, the 18S sequences of all but one parasite lineage clustered into reciprocally monophyletic clades. Considerably distinct 18S clusters were only found in Haemoproteus tartakovskyi hSISKIN1 and Haemoproteus sp. hROFI1. The presence of chimeric 18S variants in some Haemoproteus lineages indicates that their ribosomal units rather evolve in a semi-concerted fashion than according to a strict model of birth-and-death evolution.

Conclusions

Parasites of the subgenus Parahaemoproteus contain distinct 18S variants, but the intraspecific variability is lower than in most mammalian and avian Plasmodium species. The new 18S data provides a basis for more thorough investigations on the development of Haemoproteus parasites in host tissue using in situ hybridization techniques targeting specific parasite lineages.
Global analysis on the mutations associated with multidrug-resistant urogenital mycoplasmas and ureaplasmas infection: a systematic review and meta-analysis
Authors: Abavisani Mohammad , Keikha Masoud
Published: August 2023

Background

The emergence of multidrug-resistant (MDR) strains of genital pathogens, notably Mycoplasma genitalium and Ureaplasma spp., constitutes a significant global threat today. The present study aimed to evaluate the prevalence and trend of changes in MDR mycoplasma and ureaplasma strains.

Methods

An exhaustive search was performed across the ISI Web of Science, PubMed, Scopus, ScienceDirect, and Google Scholar databases to accumulate relevant studies without restrictions until April 2023. We used event rate and corresponding 95% confidence intervals to determine the frequency of resistance-related mutations and examine the trend of antibiotic resistance changes.

Results

The data from 27 studies, including 24,662 patients across 14 countries, were evaluated. Out of the total studies, 20 focused on M. genitalium infections, and five on Ureaplasma spp. The frequency of resistance-associated mutations to macrolides, tetracyclines, and fluoroquinolones in clinical strains of M. genitalium was 43.5%, 13.1%, and 18.6%, respectively. The prevalence of M. genitalium strains with double resistance and MDR was 11.0% and 17.4%, respectively. The incidence of both double-drug-resistant and MDR strains was higher in the World Health Organization (WHO) Western Pacific Region than in European and American populations. For Ureaplasma strains, resistance-associated mutations to macrolides, tetracyclines, and fluoroquinolones were 40.8%, 25.7%, and 90.3%, respectively. The rate of antibiotic resistance was higher in the African population compared to the European and WHO Western Pacific Regions. The rate of MDR Ureaplasma infections was 13.2%, with a higher incidence in the African population compared to the WHO Western Pacific and European regions.

Conclusion

The proliferation and spread of MDR Mycoplasma and Ureaplasma strains present a significant public health challenge. The situation is indeed alarming, and the rising trend of MDR M. genitalium and MDR Ureaplasma infections suggests that therapies involving macrolides and fluoroquinolones may become less effective.
N6-methyladenosine (m6A) methyltransferase WTAP-mediated miR-92b-5p accelerates osteoarthritis progression
Authors: Lin Zhaowei , Jiang Tao , Zheng Wei , Zhang Jiayuan , Li Anan , Lu Chao , Liu Wengang
Published: August 2023

The study was design to investigate the functional roles of Wilms tumor 1-associated protein (WTAP), an enzyme catalyzes m6A modification, in the pathogenesis of osteoarthritis (OA) and further elucidate its possible regulatory mechanism. Herein, we discovered that WTAP was outstandingly upregulated in chondrocyte stimulated with Lipopolysaccharide (LPS) and cartilage tissue of patients with OA. Functional studies have demonstrated that WTAP knockdown enhances proliferation ability, suppresses apoptosis, and reduces extracellular matrix (ECM) degradation in an LPS—induced OA chondrocyte injury model and ameliorates cartilage damage in a destabilizing the medial meniscus (DMM)—induced OA mice model. Conversely, overexpression of WTAP contributes to the opposite effects. Mechanistically, our data has demonstrated that m6A modification mediated by WTAP promotes the maturation of pri-miR-92b to miR-92b-5p, thereby enhancing the targeted inhibitory function of miR-92b-5p on TIMP4. Furthermore, we have discovered that WTAP can directly facilitate the degradation of TIMP4 mRNAs in a YTHDF2-dependent manner. In a nutshell, our findings suggested that WTAP knockdown alleviated OA progression by modulating the miR-92b-5p/TIMP4 axis in an m6A-dependent manner. Our study disclosed that WTAP-mediated m6A modification displayed a crucial role in OA development and suggested that targeting WTAP could be a promising preventive and therapeutic target for patients with OA.
Identification of host gene-microbiome associations in colorectal cancer patients using mendelian randomization
Authors: Xiang Yaoxian , Zhang Chan , Wang Jing , Cheng Yurong , Wang Li , Tong Yingying , Yan Dong
Published: August 2023

Background

There are many studies indicating that alterations in the abundance of certain gut microbiota are associated with colorectal cancer (CRC). However, a causal relationship has not been identified due to confounding factors such as lifestyle, environmental, and possible reverse causal associations between the two. Furthermore, certain host gene mutations can also contribute to the development of CRC. However, the association between genes and gut microbes in patients with CRC has not been extensively studied.

Methods

We conducted a two-sample Mendelian randomization (MR) study to reveal the causal relationship between gut microbiota and CRC. We obtained SNPs associated with gut microbiome abundance as instrumental variables (IVs) from a large-scale, multi-ethnic GWAS study, and extracted CRC-related datasets from an East Asian Population genetic consortia GWAS (AGWAS) study and FinnGen consortium, respectively. We analyzed a total of 166 bacterial features at four taxonomic levels, including order, family, genus, and species. The inverse-variance-weighted (IVW), weighted median, MR-Egger, and simple median methods were applied to the MR analysis, and the robustness of the results were tested using a series of sensitivity analyses. We extracted IVs of gut microbiota with direct causal association with CRC for SNP annotation to identify the genes in which these genetic variants were located to reveal the possible host gene-microbiome associations in CRC patients.

Results

The findings from our MR analysis based on CRC-associated GWAS datasets from AGWAS revealed causal relationships between 6 bacterial taxa and CRC at a locus-wide significance level (P < 1 × 10–5). The IVW method found that family Porphyromonadaceae, genera Anaerotruncus, Intestinibacter, Slackia, and Ruminococcaceae UCG004, and species Eubacterium coprostanoligenes group were positively associated with CRC risk, which was generally consistent with the results of other complementary analyses. The results of a meta-analysis of the MR estimates from the AGWAS and the FinnGen datasets showed that family Porphyromonadaceae and genera Slackia, Anaerotruncus, and Intestinibacter replicated the same causal association. Sensitivity analysis of all causal associations did not indicate significant heterogeneity, horizontal pleiotropy, or reverse causal associations. We annotated the SNPs at a locus-wide significance level of the above intestinal flora and identified 24 host genes that may be related to pathogenic intestinal microflora in CRC patients.

Conclusion

This study supported the causal relationship of gut microbiota on CRC and revealed a possible correlation between genes and pathogenic microbiota in CRC. These findings suggested that the study of the gut microbiome and its further multi-omics analysis was important for the prevention and treatment of CRC.
Transmitted/founder SHIV.D replicates in the brain, causes neuropathogenesis, and persists on combination antiretroviral therapy in rhesus macaques
Authors: Podgorski Rachel M. , Robinson Jake A. , Smith Mandy D. , Mallick Suvadip , Zhao Huaqing , Veazey Ronald S. , Kolson Dennis L. , Bar Katharine J. , Burdo Tricia H.
Published: August 2023

A biologically relevant non-human primate (NHP) model of HIV persistence in the central nervous system (CNS) is necessary. Most current NHP/SIV models of HIV infection fail to recapitulate viral persistence in the CNS without encephalitis or fail to employ viruses that authentically represent the ongoing HIV-1 pandemic. Here, we demonstrate viral replication in the brain and neuropathogenesis after combination antiretroviral therapy (ART) in rhesus macaques (RMs) using novel macrophage-tropic transmitted/founder (TF) simian-human immunodeficiency virus SHIV.D.191,859 (SHIV.D). Quantitative immunohistochemistry (IHC) and DNA/RNAscope in situ hybridization (ISH) were performed on three brain regions from six SHIV.D-infected RMs; two necropsied while viremic, two during analytical treatment interruptions, and two on suppressive ART. We demonstrated myeloid-mediated neuroinflammation, viral replication, and proviral DNA in the brain in all animals. These results demonstrate that TF SHIV.D models native HIV-1 CNS replication, pathogenesis, and persistence on ART in rhesus macaques.
Classification of multi-year and multi-variety pumpkin seeds using hyperspectral imaging technology and three-dimensional convolutional neural network
Authors: Li Xiyao , Feng Xuping , Fang Hui , Yang Ningyuan , Yang Guofeng , Yu Zeyu , Shen Jia , Geng Wei , He Yong
Published: August 2023

Background

Pumpkin seeds are major oil crops with high nutritional value and high oil content. The collection and identification of different pumpkin germplasm resources play a significant role in the realization of precision breeding and variety improvement. In this research, we collected 75 species of pumpkin from the Zhejiang Province of China. 35,927 near-infrared hyperspectral images of 75 types of pumpkin seeds were used as the research object.

Results

To realize the rapid classification of pumpkin seed varieties, position attention embedded three-dimensional convolutional neural network (PA-3DCNN) was designed based on hyperspectral image technology. The experimental results showed that PA-3DCNN had the best classification effect than other classical machine learning technology. The classification accuracy of 99.14% and 95.20% were severally reached on the training and test sets. We also demonstrated that the PA-3DCNN model performed well in next year’s classification with fine-tuning and met with 94.8% accuracy.

Conclusions

The model performance improved by introducing double convolution and pooling structure and position attention module. Meanwhile, the generalization performance of the model was verified, which can be adopted for the classification of pumpkin seeds in multiple years. This study provided a new strategy and a feasible technical approach for identifying germplasm resources of pumpkin seeds.
Joint manifestations revealing inborn metabolic diseases in adults: a narrative review
Authors: Loret Amaury , Jacob Claire , Mammou Saloua , Bigot Adrien , Blasco Hélène , Audemard-Verger Alexandra , Schwartz Ida VD , Mulleman Denis , Maillot François
Published: August 2023

Inborn metabolic diseases (IMD) are rare conditions that can be diagnosed during adulthood. Patients with IMD may have joint symptoms and the challenge is to establish an early diagnosis in order to institute appropriate treatment and prevent irreversible damage. This review describes the joint manifestations of IMD that may be encountered in adults. The clinical settings considered were arthralgia and joint stiffness as well as arthritis. Unspecific arthralgias are often the first symptoms of hereditary hemochromatosis, chronic low back pain may reveal an intervertebral disc calcification in relation with alkaptonuria, and progressive joint stiffness may correspond to a mucopolysaccharidosis or mucolipidosis. Gaucher disease is initially revealed by painful acute attacks mimicking joint pain described as “bone crises”. Some IMD may induce microcrystalline arthropathy. Beyond classical gout, there are also gouts in connection with purine metabolism disorders known as “enzymopathic gouts”. Pyrophosphate arthropathy can also be part of the clinical spectrum of Gitelman syndrome or hypophosphatasia. Oxalate crystals arthritis can reveal a primary hyperoxaluria. Destructive arthritis may be indicative of Wilson’s disease. Non-destructive arthritis may be seen in mevalonate kinase deficiency and familial hypercholesterolemia.