bluuebunny/crossref_metadata_2025 huggingface dataset:
Whole-Genome Resequencing Reveals Significant Genetic Differentiation Between Exserohilum turcicum Populations from Maize and Sorghum and Candidate Effector Genes Related to Host Specificity
Authors: Cui Linkai , Wang Cong , Li Mengqi , Fang Yufeng , Hu Yanhong
Published: July 2024

Exserohilum turcicum is a devastating fungal pathogen that infects both maize and sorghum, leading to severe leaf diseases of the two crops. According to host specificity, pathogenic isolates of E. turcicum are divided into two formae speciales, namely E. turcicum f. sp. zeae and E. turcicum f. sp. sorghi. To date, the molecular mechanism underlying the host specificity of E. turcicum is marginally known. In this study, the whole genomes of 60 E. turcicum isolates collected from both maize and sorghum were resequenced, which enabled identification of 233,022 single-nucleotide polymorphisms (SNPs) in total. Phylogenetic analysis indicated that all isolates are clustered into four genetic groups that have a close relationship with host source. This observation is validated by the result of principal component analysis. Analysis of population structure revealed that there is obvious genetic differentiation between two populations from maize and sorghum. Further analysis showed that 5,431 SNPs, including 612 nonsynonymous SNPs, are completely co-segregated with the host source. These nonsynonymous SNPs are located in 539 genes, among which 18 genes are predicted to encode secretory proteins, including six putative effector genes named SIX13-like, Ecp6, GH12, GH28-1, GH28-2, and CHP1. Sequence polymorphism analysis revealed various numbers of SNPs in the coding regions of these genes. These findings provide new insights into the molecular basis of host specificity in E. turcicum.
GLP-1 RAs
Authors: Drake Evan S. , Marino Adriane B. , Theroux Jenna D. , Roberts Kaitlin
Published: July 2024

In the last decade, the glucagon-like peptide-1 (GLP-1) receptor agonist (RA) drug class has revolutionized treatment for type 2 diabetes mellitus and some of its comorbidities, including obesity and cardiovascular disease. Continued advancements in the GLP-1 RA space show clinical promise for patients, though challenges—including barriers to care such as drug expense and availability—exist. This article provides an overview of available GLP-1 RAs and their mechanisms of action, indications, adverse reactions, and risks, providing practical pearls for providers along the way.
Evidence-based data support strategies for the prevention of Hymenoptera venom anaphylaxis
Authors: Kamga Audrey , Bourrain Jean Luc , Demoly Pascal , Tanno Luciana Kase
Published: July 2024

Purpose of review

This review aims to identify phenotypes at-risk of Hymenoptera venom-induced anaphylaxis (HVA), focusing on different perspectives (epidemiological, clinical, and therapeutic) in order to adapt future preventive strategies.

Recent findings

HVA remains one of the leading causes of anaphylaxis, with a broad pattern of symptoms. Although most cases occur outside healthcare settings, data indicate a high emergency admission rate due to insect stings. Mortality is often underestimated because of the lack of witnesses and difficulties in recognizing the signs and the culprit. Targeting risk factors could be a clue to improve these statistics and the prognosis of the disease.

Potential risk factors for severe HVA in the European population are basal serum tryptase (BST) above 8 μg, mast cell disorders, the absence of skin symptoms, and cardiovascular conditions requiring the use of beta blockers and ACE inhibitors. Identifying these criteria, mainly based on clinical patterns, helps to develop personalized strategies for management and prevention.

With a personalized medicine approach, phenotypes must be characterized to adapt to the management of patients suffering from Hymenoptera venom anaphylaxis (HVA), including venom immunotherapy (VIT). In this systematic review, all articles mentioned systemic reactions with heterogeneous severity degrees. Half of those reported grade III–IV systemic reactions (Ring and Messmer). HVA clinical patterns could be worsened by one Hymenoptera sting, a patient's history with mast cell disorders, or cardiovascular diseases. VIT failure was attributed to bee venom extract and monotherapy in two-thirds of publications. Findings stress the difficulty of having uniform epidemiological data on HVA and the lack of financial support in some world regions to support appropriate management of these conditions. Although observing a heterogeneity of data, we were able to identify potential risk factors, in particular for the severe cases. We believe our work will support allergists and health professionals to implement improved personalized management of patients suffering from severe HVA.
The SMILE study: Study of long-term methotrexate and iguratimod combination therapy in early rheumatoid arthritis
Authors: Du Fang , Dai Qing , Teng Jialin , Lu Liangjing , Ye Shuang , Ye Ping , Lin Zhiqian , Ding Hong , Dai Min , Bao Chunde ,   on behalf of the SMILE Group
Published: July 2024

Background:

Rheumatoid arthritis (RA) is a systemic autoimmune disease characterized by chronic inflammation and joint destruction. Iguratimod (IGU) is a novel conventional synthetic disease-modifying antirheumatic drugs (csDMARD) with good efficacy and safety for the treatment of active RA in China and Japan. However, the long-term effects of IGU on the progression of bone destruction or radiographic progression in patients with active RA remain unknown. We aimed to investigate the efficacy and safety of iguratimod (IGU), a combination of methotrexate (MTX) and IGU, and IGU in patients with active rheumatoid arthritis (RA) who were naïve to MTX.

Methods:

This multicenter, double-blind, randomized, non-inferiority clinical trial was conducted at 28 centers for over 52 weeks in China. In total, 911 patients were randomized (1:1:1) to receive MTX monotherapy (10–15 mg weekly, n = 293), IGU monotherapy (25 mg twice daily, n = 297), or IGU + MTX (10–15 mg weekly for MTX and 25 mg twice daily for IGU, n = 305) for 52 weeks. The patients’ clinical characteristics, Simplified Disease Activity Index (SDAI), Clinical Disease Activity Index (CDAI), disease activity score in 28 joints-C-reactive protein (DAS28-CRP) level, and erythrocyte sedimentation rate (DAS28-ESR) were assessed at baseline. The primary endpoints were the proportion of patients with ≥20% improvement according to the American College of Rheumatology (ACR20) response and changes in the van der Heijde-modified total Sharp score (vdH-mTSS) at week 52.

Results:

The proportions of patients achieving an ACR20 response at week 52 were 77.44%, 77.05 %, and 65.87% for IGU monotherapy, IGU + MTX, and MTX monotherapy, respectively. The non-inferiority of IGU monotherapy to MTX monotherapy was established with the ACR20 (11.57%; 95% confidence interval [CI], 4.35–18.79%; P <0.001) and vdH-mTSS (−0.37; 95% CI, −1.22–0.47; P = 0.022). IGU monotherapy was also superior to MTX monotherapy in terms of ACR20 (P = 0.002) but not the vdH-mTSS. The superiority of IGU + MTX over MTX monotherapy was confirmed in terms of the ACR20 (11.18%; 95% CI, 3.99–18.37%; P = 0.003), but not in the vdH-mTSS (−0.68; 95% CI, −1.46–0.11; P = 0.091). However, the difference in the incidence rates of adverse events was not statistically significant.

Conclusions:

IGU monotherapy/IGU + MTX showed a more favorable clinical response than did MTX monotherapy. IGU may have some clinical benefits over MTX in terms of radiographic progression, implying that IGU may be considered as an initial therapeutic option for patients with active RA.

Trial Registration:

https://classic.clinicaltrials.gov/, NCT01548001.
Perfusion Mapping of Flaps Using Indocyanine Green Fluorescence Angiography and Laser Speckle Contrast Imaging
Authors: Zötterman Johan , Tesselaar Erik , Elawa Sherif , Elmasry Moustafa , Farnebo Simon
Published: July 2024

Background:

Indocyanine green fluorescence angiography (ICG-FA) is often used for assessing tissue circulation in reconstructive surgery. Indocyanine green (ICG) is injected intravenously and visualized in the tissue with an infrared camera. The information is used to plan the surgery, for example, in free flap breast reconstructions. Laser speckle contrast imaging (LSCI) is another method that uses laser to assess tissue perfusion in the skin. Unlike ICG-FA, LSCI is noninvasive and may therefore have an advantaged compared with ICG-FA. The aim of this study was to evaluate the correlation between information obtained from these two techniques.

Methods:

Five deep inferior epigastric perforator patients were included. The flaps were assessed with LSCI and ICG-FA. For LSCI, the perfusion was calculated in 32 regions of interest. For ICG-FA, the maximum slope and area under curve (AUC) were calculated based on average pixel intensity data.

Results:

Large variations in maximum slope values could be seen between flaps, whereas AUC had lower variability within the same flap and between flaps. Pearson rank correlation comparing average perfusion (LSCI) and AUC (ICG-FA) showed a correlation between the values (r = 0.55, P < 0.0001). No significant correlation was observed between perfusion and maximum slope (r = 0.11, P = 0.18).

Conclusions:

There is a significant correlation between data obtained using LSCI and ICG-FA, when ICG-FA data are presented as AUC of the ICG-FA intensity curve. Maximum slope lacks significant correlation with flap data obtained with LSCI. The study indicates that LSCI may be used in reconstructive surgery to assess tissue circulation in a way similar to ICG-FA.
A case of AZOOR under immunomodulatory treatment
Authors: Merle David A. , Wolfram Lasse , Nasyrov Emil , Reith Milda , Kowalski Martin , Kempf Melanie , Strudel Lisa , Doycheva Deshka , Deuter Christoph , Stingl Katarina , Kühlewein Laura
Published: July 2024

Purpose:

To describe the clinical course and treatment response of a case of Acute Zonal Occult Outer Retinopathy (AZOOR).

Methods:

This is an observational case report. The examinations included ophthalmic examination, longitudinal multimodal imaging, visual field testing, electrophysiological recordings, serologic analyses and whole genome sequencing.

Results:

In this report, the authors present the case of an otherwise healthy 33-year-old female with bilateral AZOOR manifestation. Other possible causes of the observed retinal lesions were ruled out by extensive diagnostic work-up. Treatment with oral prednisolone therapy led to temporal disease control but progression was observed after prednisolone discontinuation. A tapered oral prednisolone therapy in combination with adalimumab initiation prevented further progression for at least 21 months.

Conclusion:

Diagnosis of AZOOR is frequently complicated by the unspecific symptoms of the disease and significant number of differential diagnoses. Complete diagnostic work-up is important to rule out other etiologies. Due to the lack of randomized controlled trials, therapeutic decisions obligatorily rely on empiric treatment decisions in combination with frequent follow-up examinations.
Impact of Biopsychosocial Pain Education on Physician Assistant Students' Pain Knowledge, Pain Attitudes, and Recommendations for Lower Back Pain
Authors: Kiesel John D. , Stevens Douglas , Elwood Chelsea
Published: July 2024

Introduction

Physician assistants treat patients with chronic musculoskeletal pain on a regular basis. This pilot study implemented a pain education module in the first semester of didactic training and evaluated changes in knowledge, attitudes, and recommendations for lower back pain.

Methods

The biopsychosocial pain education module, focused on the social, cultural, psychological, and biological complexities of pain and incorporated online training and in-person case based discussions. Students completed surveys on pain knowledge, attitudes, and recommendations for a case scenario before and after the module and at a one-year follow-up.

Results

Physician assistant students' pain attitudes and beliefs demonstrated statistically significant shifts toward a biopsychosocial perspective immediately after the educational module (P < 0.001) and at one-year follow-up compared with pretest levels (P = .034). Pain knowledge demonstrated statistically significant improvements immediately after the module (P = .006). At one-year follow-up, pain knowledge was not statistically significantly different from pretest levels (P = .530). Clinical recommendations for the case-based scenario trended toward increased agreement with clinical practice guideline recommendations after the module and persisted at the one-year follow-up.

Discussion

Implementing a pain education module with emphasis on the multidimensional nature of pain using a case-based approach can improve pain knowledge, attitudes, and recommendations for care.
Knowledge of the Human Papillomavirus Vaccine and Willingness to Accept Vaccination in the Postpartum Period
Authors: Chawla Nidhi , Marshall Jennifer , Dubinskaya Alexandra , Wakefield Dorothy , Shepherd Jonathan , Pimentel Veronica Maria
Published: July 2024

Objectives

Human papillomavirus (HPV) vaccines prevent cervical cancer. The inpatient postpartum period presents a unique window for vaccination. Our study investigates HPV vaccine knowledge, barriers to vaccination, and willingness to get vaccinated during inpatient postpartum care.

Materials and Methods

We conducted a cross-sectional survey of 147 participants, age 18 to 26, who delivered at our institution between November 1, 2019, and April 30, 2020. Participants completed a questionnaire that included demographics, vaccine knowledge, hesitancies, and willingness to vaccinate. We used descriptive statistics and compared groups with chi-square or Wilcoxon rank sum for categorical variables and t-test for continuous variables.

Results

Of the 147 patients, 58 (39.46%) were fully vaccinated against HPV and 89 (60.54%) of participants were unvaccinated or partially vaccinated. There was a greater proportion of African American and Asian participants among unvaccinated women (28.1% vs 20.7% and 16.9% vs 1.7%, respectively). Most unvaccinated participants (52.9%) were willing to get vaccinated in the postpartum unit. Both vaccinated and unvaccinated groups were similarly aware that the HPV vaccine prevents cervical and oropharyngeal cancers and genital warts. The top barrier to future vaccination was forgetting to complete the vaccination series.

Conclusions

Most women were not fully vaccinated but were willing to receive their first dose while in the postpartum unit. African American women were less likely to be vaccinated and expressed more unwillingness to accept vaccination. We identified barriers to HPV vaccination that can be tackled with the initiation of inpatient postpartum vaccination.
Bioinformatics analysis reveals CCR7 as a potential biomarker for predicting CKD progression
Authors: Lai Junju , Shan Huizhi , Cui Sini , Xiao Lingfeng , Huang Xiaowen , Xiao Yun
Published: July 2024

Chronic kidney disease (CKD) inevitably progresses to end-stage renal disease if intervention does not occur timely. However, there are limitations in predicting the progression of CKD by solely relying on changes in renal function. A biomarker with high sensitivity and specificity that can predict CKD progression early is required. We used the online Gene Expression Omnibus microarray dataset GSE45980 to identify differentially expressed genes (DEGs) in patients with progressive and stable CKD. We then performed functional enrichment and protein–protein interaction network analysis on DEGs and identified key genes. Finally, the expression patterns of key genes were verified using the GSE60860 dataset, and the receiver operating characteristic curve analysis was performed to clarify their predictive ability of progressive CKD. Ultimately, we verified the expression profiles of these hub genes in an in vitro renal interstitial fibrosis model by real-time PCR and western blot analysis. Differential expression analysis identified 50 upregulated genes and 47 downregulated genes. The results of the functional enrichment analysis revealed that upregulated DEGs were mainly enriched in immune response, inflammatory response, and NF-κB signaling pathways, whereas downregulated DEGs were mainly related to angiogenesis and the extracellular environment. Protein–protein interaction network and key gene analysis identified CCR7 as the most important gene. CCR7 mainly plays a role in immune response, and its only receptors, CCL19 and CCL21, have also been identified as DEGs. The receiver operating characteristic curve analysis of CCR7, CCL19, and CCL21 found that CCR7 and CCL19 present good disease prediction ability. CCR7 may be a stable biomarker for predicting CKD progression, and the CCR7-CCL19/CCL21 axis may be a therapeutic target for end-stage renal disease. However, further experiments are needed to explore the relationship between these genes and CKD.
Risk factors for COVID-19 and their association with mortality in Ecuadorian patients admitted to the ICU: A retrospective cohort multicentric study
Authors: Fuenmayor-González Luis , Vera-Ormaza Jair , Shen Hua , Corella-Ortega Belén , Fajardo-Loaiza Thalía , Borja-Pérez Cristina , Ochoa-Godoy Nancy , Vásquez-Barzallo Sebastián , Díaz-Rodríguez Juan , Díaz Ana María , García Fernanda , Ramírez Vanessa , Sánchez Hernán , Barberán José Luis , Paredes Juan Pablo , Cevallos Mónica , Montenegro Francisco , Puertas Soraya , Briones Killen , Martínez Marlon , Vélez-Páez Jorge , Montalvo-Villagómez Mario , Herrera Luis , Garrido Santiago , Sisa Ivan , Jibaja Manuel
Published: July 2024

Several risk factors were associated with mortality in patients with coronavirus disease 2019 (COVID-19) infection in intensive care units (ICU). We assessed the effect of risk factors related to the characteristics and clinical history of the population, laboratory test results, drug management, and type of ventilation on the probability of survival/discharge from the ICU. A retrospective cohort multicentric study of adults with COVID-19 admitted to the ICU between March 2020 and December 2021. Data were collected from 6 hospitals in 5 cities in Ecuador. The primary outcome was ICU survival/discharge. Survival analysis was conducted using semi-parametric Cox proportional hazards models. Of those admitted to the ICU with COVID-19, (n = 991), mean age was 56.76 ± 13.14, and 65.9% were male. Regarding the primary outcome, 51.1% (n = 506) died and 48.9% (n = 485) survived. Of the group that died, their mean age was higher than the survivors (60.7 vs 52.60 years, respectively), and they had a higher prevalence of comorbidities such as arterial hypertension (37.2% vs 20.4%, respectively) and diabetes mellitus (26.9% vs 15.7%, respectively), with P < .001. In ventilatory management, 32.7% of patients used noninvasive ventilation and high-flow nasal cannula, and 67.3% required invasive ventilatory support. After adjusting for confounders, Cox regression analysis showed that patients were less likely to be discharged alive from the ICU if they met the following conditions: arterial hypertension (hazard ratio [HR] = 0.83 95% CI 0.723–0.964), diabetes mellitus (HR = 0.80 95% CI 0.696–0.938), older than 62 years (HR = 0.86 95% CI 0.790–0.956), obese (body mass index ≥ 30) (HR = 0.78 95% CI 0.697–0.887), 1 unit increase in SOFA score (HR = 0.94 95% CI 0.937–0.961), PaO2/FiO2 ratio <100 mm Hg (HR = 0.84 95% CI 0.786–0.914), and the use of invasive mechanical ventilation (HR = 0.68 95% CI 0.614–0.769). Risk factors associated with increased mortality were older age, obesity, arterial hypertension, and diabetes. Factors such as male gender, chronic obstructive pulmonary disease, acute kidney injury, and cancer reported in other investigations did not have the same effect on mortality in our study.
CT anatomical study of extreme lateral interbody fusion in thoracic spine
Authors: Zhong Zhenyu , Xiong Moliang , Deng Liang , Zeng Jihuan , Ai Gangtong , Xiao Qiang
Published: July 2024

Extreme Lateral Interbody Fusion (XLIF) is currently used in the clinical treatment of thoracic spine disorders and has achieved desirable results. In this study, we selected CT images of the thoracic spine from 54 patients and divided the intervertebral spaces into six regions (A, I, II, III, IV, P) using the Moro method. We observed the adjacent relationships between the thoracic spine and surrounding tissues such as the scapula, esophagus, thoracic aorta, and superior vena cava. We made four main findings: firstly, when the scapulae were symmetrical on both sides, over 80% of patients had the T1-4 II-III region obstructed by the scapulae; secondly, when the esophagus was located on the left side of the vertebral body, 3.7% to 24.1% of patients had the T4-9 region located in the II-III zone; furthermore, when the thoracic aorta was on the left side of the vertebral body, over 80% of individuals in the T4-9 segment occupied the II-III region, with the values being 55.5% and 20.4% for T9/10 and T10/11, respectively; finally, the superior vena cava was located on the right side of the T4/5 vertebra, with 3.7% of individuals having it in the II-III region, while on the left side of T5-9, 3.7% to 18.5% of individuals had it in the II-III region. Based on these findings, we suggest that XLIF should not be performed on the T1-4 vertebrae due to scapular obstruction. Selecting the left-sided approach for XLIF in the T4-11 segments may risk injuring the thoracic aorta, esophagus, and superior vena cava, while the T11/12 segment is considered safe and feasible. Choosing the right-sided approach for XLIF may pose a risk of injuring the superior vena cava in the T4/5 segment, but it is safe and feasible in the T5-12 segments.
Effect of sacubitril/valsartan on hospital readmissions in heart failure with reduced ejection fraction in Saudi Arabia: A multicenter retrospective cohort study
Authors: Alsohimi Samiah , Almagthali Alaa , Mandar Dena , Ghandourah Fatmah , AlButi Hala , Alshehri Samah , Aljabri Ahmed , Alshibani Mohannad
Published: July 2024

Sacubitril/valsartan is an angiotensin receptor neprilysin inhibitor (ARNI) that has been shown in multiple clinical trials to have clinical benefits and is recommended by major clinical management guidelines as a first-line treatment for heart failure with reduced ejection fraction (HFrEF). The most significant benefit that was observed in clinical trials is its effect in reducing hospital readmissions. However, little evidence supports its effectiveness in practice, especially in Saudi Arabia. A multicenter retrospective cohort study was conducted using the patient medical records at 2 tertiary hospitals in Saudi Arabia. Eligible patients were adults (≥18 years old) with a confirmed diagnosis of HFrEF who were discharged on either sacubitril/valsartan or angiotensin-converting enzyme inhibitors (ACEI)/angiotensin receptor blockers (ARB) in addition to the other recommended therapy for HFrEF. The primary endpoint was the all-cause 30-day readmission rate. The secondary endpoints included all-cause readmissions at 60-day, 90-day, and 12 months. Additionally, 30-day, 60-day, and 90-day readmissions due to HF were evaluated. A total of 398 patients were included in our analysis; 199 (50.0%) received sacubitril/valsartan (group 1), and 199 (50.0%) received ACEI/ARB (group 2). Our results showed that all-cause 30-day readmissions in group 1 were significantly lower than in group 2 (7% vs 25.0%, RR 0.28, 95% Cl 0.16–0.49; P < .001). Additionally, the secondary outcomes showed significantly fewer 60-day, 90-day, and 12-month all-cause readmissions were identified in group 1 compared to group 2 (11% vs 30.7%, RR 0.36, 95% CI 0.23–0.56; P < .001), (11.6%. vs 32.6%, RR 0.35, 95% CI 0.23–0.55; P < .001) and (23.6% vs 51.2%, RR 0.46, 95% CI 0.35–0.62; P < .001), respectively. Furthermore, HF readmissions at 30-day, 60-day, and 90-day in group 1 were significantly lower than in group 2 (P < .05). Sacubitril/valsartan for the treatment of HFrEF is associated with a significantly lower rate of all-cause readmission as well as HF readmissions compared to ACEI/ARB. These benefits extend up to 12 months post-discharge.
Application of 3-dimensional visualization and image fusion technology in liver cancer with portal vein tumor thrombus surgery
Authors: Tan Yong , Zhu Jian Yong , Li Jing , Wu Li Ming , Ouyang Zaixing , Liu Wen Ying , Song Hao , Huang Cong Yun
Published: July 2024

Liver cancer with portal vein tumor thrombus (PVTT) is a frequent finding and is related to poor prognosis. Surgical resection provides a more promising prognosis in selected patients. The purpose of this study was to explore the application of 3D (3-dimensional) visualization and image fusion technology in liver cancer with PVTT surgery. 12 patients were treated with surgery between March 2019 and August 2022. The preoperative standard liver volume (SLV), estimated future liver remnant (FLR), FLR/SLV, 3D visualization models, PVTT classification, operation programs, surgical results, and prognosis were collected and analyzed. Twelve patients who had complete data of 3D visualization and underwent hemihepatectomy combined with portal vein tumor thrombectomy. The operation plan was formulated by 3D visualization and was highly consistent with the actual surgery. The SLV was 1208.33 ± 63.22 mL, FLR was 734.00 mL and FLR/SLV was 61.62 ± 19.38%. The accuracy of classification of PVTT by 3D visualization was 100%, Cheng type Ⅱa (4 cases), Ⅱb (2 cases), Ⅲa (4 cases), and Ⅲb (2 cases). The 3D visualization model was a perfect fusion with the intraoperative live scene and precise guidance for hepatectomy. No patient was suffering from postoperative liver failure and without procedure‑associated death. 6 patients died of tumor recurrence, and 2 patients died of other reasons. The 12-month cumulative survival rate was 25.9%. 3D visualization and image fusion technology could be used for precise assessment of FLR, classification of PVTT, surgery navigation, and which was helpful in improving the safety of hepatectomy.
Rheumatoid arthritis and diabetic retinopathy: A two-sample Mendelian randomization study
Authors: Zeng Yihuan , Mo Guangmeng , Wang Zhenting , Wang Xiaoyv , Li Kunmeng , Yang Yan , Tian Ni
Published: July 2024

Diabetic retinopathy (DR) is a common and highly blinding disease. Many clinical studies have shown a causal relationship between Rheumatoid arthritis (RA) and DR, but the results are contradictory. In addition, some clinical results and pathological inferences have certain paradoxes, and the influence of RA on the pathogenesis and development of DR Is unclear. Our research assessed the causal association between RA and the development of DR using a 2-sample Mendelian randomization method. Single nucleotide polymorphisms (SNPs) relevant to the study were extracted and filtered from genome-wide association study (GWAS) data. A DR GWAS with a sample size of 190,594 and an RA GWAS with a sample size of 58,284 were obtained. Inverse variance weighted (IVW) method was used to analyze the results, and Mendelian randomization (MR)-Egger regression method and weighted median method were used to evaluate the robustness. Sensitivity analysis was performed using pleiotropy test, heterogeneity test, leave-one-out test to ensure that the results were unbiased. Confounding factors were eliminated to ensure robustness. A total of 83 related SNPs were screened. IVW method showed a positive correlation between RA and the increased relative risk of diabetic retinopathy (OR = 1.06, 95%CI: 1.04–1.23). The same trend was shown by MR-Egger regression method and weighted median method. Sensitivity analysis showed that there was no heterogeneity in SNPs, and the results were less likely to be affected by potential bias. After removing SNPs linked to confounders, the MR results remained significant and stable in direction. There is a positive causal association between rheumatoid arthritis and diabetic retinopathy. It is important to strengthen retina-related screening and prevention in diabetic patients with RA to reduce the risk of DR In RA patients.
A patient with 18p11.32-p11.21 deletion have monaural deafness caused by an inadequate haplodose of THOC1: A case report
Authors: Ouyang Geng , Yi Enhuan , Qin Huali , Duan Xingxing , Wang Sifeng , Peng Xiangwen
Published: July 2024

Background:

THOC1 mutation causes Deafness, autosomal dominant 86 [OMIM: 620280]. However, it has not been reported whether deletion of the THOC1 gene causes deafness.

Methods:

Here, we report a 1-year-old girl with clinical features including Hypotonia, unilateral deafness in the right ear, and widening of lateral ventricles in 6 months. Gene mutations were identified by whole-exome sequencing.

Results:

Through whole-exome sequencing, a deletion of 18p11.32-p11.21 contains the deletion of all THOC1 genes found in the patient but not in her parents’ genomic DNA. The ClinGen Database Haplodose Insufficiency (HI) prediction tool determined that HI, THOC1 HI may cause unilateral deafness. Moreover, after 6 months of rehabilitation training, muscle tone returned to normal. However, at the age of 1 year, the patient developed symptoms of a large liver and hamartoma of both kidneys.

Conclusion:

From the above results, we propose that in our patient, THOC1 HI may cause unilateral deafness. Therefore, this study provides a new THOC1 deletion associated with unilateral deafness.
Acute therapy-related myelodysplastic syndromes following capecitabine and oxaliplatin therapy in gastric malignant tumor: A case report
Authors: Qian Yi-fan , Chen Hang-ping , Ren Guo-fei
Published: July 2024

Rational:

Patients with gastric cancer show a relatively low incidence of developing secondary myelodysplastic syndrome (MDS).

Patient concerns:

A 60-year-old man was admitted because of pain and discomfort in the upper abdomen and intermittent abdominal pain.

Diagnoses:

Ulcerative moderately poorly differentiated adenocarcinoma (pT2N2M0G3, stage IIB) and MDS.

Interventions:

The patient underwent chemotherapy with oxaliplatin (OXP, intravenously guttae on day 1) plus capecitabine (CAP, bis in die orally on day 1–14). The patient developed degree III myelosuppression after OXP plus CAP chemotherapy and MDS was subsequently confirmed by diagnosis of the bone marrow biopsy. Temporary but significant hematological improvements were observed after the patient received corresponding treatment, which helped achieve remission and improve pancytopenia.

Outcomes:

The patient presented partial remission after corresponding treatment and no other complications have been recorded.

Lessons:

Acute MDS is an unusual adverse effect induced by OXP plus CAP chemotherapy. It is urgent to suggest implementing a supplementary assessment or examination for patients receiving these therapies in future cases.
Oral health management in children with severe congenital neutropenia with periodontitis: Case report
Authors: Tao Si-Yu , Yao Min , Dong Yu-Lei , Lin Xue-Jing , Sunchuri Diwas , Guo Zhu-Ling
Published: July 2024

Rationale:

Severe congenital neutropenia (SCN) is a rare and heterogeneous genetic disease. By describing the diagnosis and treatment of a child with SCN and periodontitis, this case provides a reference for the oral health management of a child with SCN and periodontitis.

Patient concerns:

We describe a boy with clinical manifestations of oral bleeding, neutropenia, recurrent fever, and other recurrent infections. The absolute neutrophil count (ANC) was <0.50 × 109/L most of the time. Morphological examination of bone marrow cells showed active granulocyte hyperplasia and dysmaturation.

Diagnoses:

According to the clinical manifestations, hematological examination and gene detection results, the child was diagnosed as SCN with chronic periodontitis.

Interventions:

Periodontal treatment was performed after informed consent was obtained from the child guardian. These included supragingival and subgingival cleaning, hydrogen peroxide and saline irrigation, placement of iodoglycerin in the gingival sulcus, and oral hygiene instruction. Hematopoietic stem cell transplantation (HSCT) was performed later.

Outcomes:

One month after initial periodontal treatment, oral hygiene was well maintained and gingival swelling had subsided. Probing depth (PD) index on periodontal probing and bleeding was significantly reduced. However, there was no significant change in blood routine and other indicators before and after periodontal treatment.

Conclusion:

Once SCN is diagnosed, individualized treatment plans can be developed according to the characteristics of the disease and its impact on oral health, which can effectively control the interaction between SCN and periodontal disease and reduce the occurrence of serious infection.
Desmoid tumors of rectus abdominis: A case report and literature review
Authors: Guo Hong-Peng , Zhang He , Li You , Pan Xing-He , Sun Cheng-Lin , Zhang Jun-Jie
Published: July 2024

Rationale:

Desmoid tumor (DT) is a rare soft tissue tumor that can occur anywhere in the body. Abdominal wall DT presents unique clinical challenges due to its distinctive manifestations, treatment modalities, and the lack of biomarkers for diagnosis and recurrence prediction, making clinical decisions exceedingly complex.

Patient concerns:

A 32-year-old female who underwent radical resection combined with patch reinforcement for rectus abdominis DT, successfully alleviating abdominal discomfort, with no recurrence during the 6-month follow-up after surgery.

Diagnoses:

Based on the imaging studies and medical history, the patient underwent radical surgical resection. Histopathology reveals that the tumor cells predominantly composed of proliferative fibroblasts with local collagen deposition. The lesional cells show positive staining for β-catenin, indicating a diagnosis of DT.

Interventions:

The patient underwent radical surgical resection with patch reinforcement to repair the abdominal wall defect. Pathology confirmed negative margins, achieving an R0 resection, and genetic testing identified a T41A mutation in CTNNB1. Consequently, no additional adjuvant therapy was administered postoperatively.

Outcomes:

The patient was discharged with the incision healing well after 3 days postoperation. Upon reexamination 6 months later, no recurrence or adverse complications were observed.

Lessons:

Abdominal wall DT treatment requires personalized plans from multidisciplinary team discussions. Genetic testing plays a crucial role in identifying novel biomarkers for abdominal wall DT. We have once again demonstrated the significant clinical significance of CTNNB1 mutations in the diagnosis and progression of abdominal wall DT. Additionally, genes such as CCND1, CYP3A4, SLIT1, RRM1, STIM1, ESR2, UGT1A1, among others, may also be closely associated with the progression of abdominal wall DT. Future research should delve deeper into and systematically evaluate the precise impact of these genetic mutations on treatment selection and prognosis for abdominal wall DT, in order to better guide patient management and treatment decisions.
Etiology, pathology, and treatment of osteonecrosis of the femoral head in adolescents: A comprehensive review
Authors: Lou Yuhan , Wu Jiawen , Zhong Ying , Tong Peijian , Du Wenxi
Published: July 2024

Femoral head necrosis is a common refractory disease in orthopedics, and shows a trend of getting younger. The occurrence of femoral head necrosis in adolescents is related to the use of glucocorticoids, autoimmune diseases, trauma, and other factors. Because adolescent patients are in the period of physical development, high activity requirements, and have fertility needs in the future, treatment is relatively difficult. Early artificial joint replacement may have problems such as wear and loosening, so total hip replacement is not the preferred treatment for adolescent patients with femoral head necrosis. This article will elaborate the research progress of femoral head necrosis in adolescents from 3 aspects, and summarize the benefits and side effects of core decompression combined with autologous stem cell transplantation in the treatment of early femoral head necrosis, so as to provide clinical ideas for the treatment of femoral head necrosis in adolescents.
Comparison of depression and anxiety in first- versus non-first generation Saudi medical students: A cross-sectional study
Authors: Almadani Ahmad H. , Alsubaihi Abdullah A. , Alsqabi Hesham A. , Alkathiri Mohammed A. , Alassaf Meshal I. , Alagel Osama A. , Alshowihi Sulaiman S. , Alolayan Mohammad A.
Published: July 2024

Depression and anxiety are prevalent psychiatric illnesses worldwide. This study aimed to estimate the prevalence of these illnesses and their associated sociodemographic factors among medical students at King Saud University, Riyadh, Saudi Arabia, by comparing first- and non-first-generation students. This cross-sectional study included 367 participants. The study tool, distributed in December 2023, consisted of a questionnaire developed by the research team to assess sociodemographic factors, the Patient Health Questionnaire-9 (PHQ-9), and the Generalized Anxiety Disorder 7-Item scale (GAD-7). Among the participants, 33.5% had a first-degree relative who attended medical school. The mean GAD-7 score was 8.30 for first-generation students and 7.48 for non-first-generation students, suggesting a trend toward higher anxiety in first-generation students, although the differences between the 2 groups were not statistically significant (P = .170). The mean PHQ-9 score was 9.54 for first-generation and 8.10 for non-first-generation students (P = .042). Women had significantly higher mean scores than men on both the GAD-7 and PHQ-9 (P=<.001). First- and third-year students had the highest mean scores on both the GAD-7 and PHQ-9 (P < .001). A statistically significant (P < .001) association was observed between anxiety and depression. Future research should focus on identifying, developing, and examining interventions that target at-risk groups of medical students. Multicenter studies with more rigorous research methodologies are warranted to validate these results.
Causal relationship between rheumatoid arthritis and ankylosing spondylitis: Two-sample Mendelian randomization
Authors: Deng Guang-hua
Published: July 2024

To investigate the causal relationship between rheumatoid arthritis (RA) and ankylosing spondylitis using Mendelian randomization (MR). Genetic loci independently associated with RA and ankylosing spondylitis in people of European origin were selected as instrumental variables using pooled data from large-scale genome-wide association studies. Three MR analyses, MR-Egger, weighted median, and inverse variance weighting, were used to investigate the causal relationship between RA and ankylosing spondylitis. Heterogeneity and multiplicity tests were used, and a sensitivity test using the “leave-one-out” method was used to explore the robustness of the results. The inverse variance weighting results showed an OR (95 % CI) of 1.25 (1.11–1.41), P < .001, indicating a causal relationship between RA and ankylosing spondylitis. And no heterogeneity and pleiotropy were found by the test and sensitivity analysis also showed robust results. The present study was conducted to analyze and explore the genetic data using two-sample MR analysis and the results showed that there is a causal relationship between RA and the occurrence of ankylosing spondylitis.
Acute chest syndrome in sickle cell disease
Authors: Talarico Annamarie M.
Published: July 2024

Sickle cell disease (SCD) is an autosomal recessive disorder altering the shape of red blood cells, causing harmful obstructions in blood vessels, therefore altering normal blood flow. SCD can escalate quickly into acute chest syndrome (ACS), a life-threatening complication that requires immediate care. This article discusses the pathophysiology, assessment, diagnosis, and treatment of ACS, as well as nursing care and patient education.
Sexually Transmitted Diseases and Attention-Deficit/Hyperactivity Disorder: A Systematic Literature Review
Authors: Soldati Lorenzo , Deiber Marie-Pierre , Schockaert Pauline , Köhl John , Bolmont Mylène , Hasler Roland , Perroud Nader
Published: July 2024

Patients with attention-deficit/hyperactivity disorder (ADHD) suffer from inattention, hyperactivity, and impulsivity. Clinicians often assume that the specific difficulties associated with ADHD are bound to affect sexual behaviors, and favor risky sexual behaviors, thereby increasing the frequency of sexually transmitted diseases (STDs). This review provides an up-to-date synthesis of the literature concerning STDs in patients with ADHD. A systematic review of the literature was performed using the PubMed, PsychInfo, and Embase databases, with STDs as the main outcome measure. Patients with ADHD report more STDs than the general population. Results are limited by the small number of existing studies, as well as the heterogeneity of the outcome measures. Findings from this first systematic review of data on STDs in individuals with ADHD suggest that ADHD affects sexual health and sexual behaviors. Clinicians treating patients with ADHD should explore risky sexual behaviors in their patients and raise awareness about the risk of contracting STDs. Further studies are warranted to better evaluate the risk of contracting an STD in patients with ADHD.
The “Double Victim Phenomenon”: Results From a National Pilot Survey on Second Victims in German Family Caregivers (SeViD-VI Study)
Authors: Bushuven Stefan , Trifunovic-Koenig Milena , Klemm Victoria , Diesener Paul , Haller Susanne , Strametz Reinhard
Published: July 2024

Introduction

Second-victim phenomena may lead to severe reactions like depression or posttraumatic disorder, as well as dysfunction and absenteeism. Medical error as a cause for second victims is not limited to professionals, as family caregivers care for millions of patients at home. It remains unclear whether these are first, second, or double victims in case of error. This explorative study investigated whether second victim effects and signs of moral injury are detectable in family caregivers and whether existing instruments are applicable in lay persons.

Methods

In an open convenience sampling online survey, we recruited 66 German family caregivers. Propensity score matching was conducted to obtain a balanced sample of family caregivers and qualified nurses who took part in the previous study by adjusting for age and sex. The groups were compared regarding the German Version of the Second Victim Experience and Support Tool-Revised and the German version of the Moral Injury Symptom and Support Scale for Health Professionals.

Results

Sixty-six caregivers participated, of whom 31 completed the survey. Of all, 58% experienced a second victim-like effect, 35% experienced a prolonged effect, and 45% reported to still suffer from it. In a matched sample (22 family caregivers and 22 nurses), no significant differences were observed between the groups.

Discussion

Regarding the limitations of this pilot study, demanding for resampling in larger populations, we could show that second victim effects and moral injury are detectable in family caregivers by validated instruments and are not inferior to professionals’ experiences. Concerning the demand for further studies, we confirmed the applicability of the testing instruments but with need for item reduction to lower response burden.
Threatening an Illusory Limb: An Event-related Potential Study of the Rubber Hand Illusion
Authors: Heldmann Marcus , Spitta Gregor , Wagner-Altendorf Tobias , Münte Thomas F.
Published: July 2024

Background:

The rubber hand illusion (RHI) is a well-established method for studying body ownership: Given adequate concordance of visual, sensory, and proprioceptive stimuli, the individual experiences a rubber hand as his or her own.

Objective:

To study the effects of a threat to the rubber hand.

Methods:

We created a typical RHI paradigm but added threatening pain: Both the real hand of an individual and the rubber hand were stroked with a brush, either synchronously (RHI-inducing condition) or asynchronously (control condition), but only the rubber hand was then pricked with a needle to create a threatening pain condition. Event-related potentials (ERPs) were recorded in a group of 23 typically-developed individuals. ERP effects were source-localized using low-resolution electromagnetic tomography.

Results:

The individuals consistently reported experience of the RHI during the experiment when the brush strokes were applied synchronously to both the real hand and the rubber hand. ERP analysis revealed that synchronous brush stroking gave rise to higher amplitude of frontal ERPs in the 100–200 ms range than asynchronous brush stroking, which was interpreted as reflecting the RHI. In the threatening pain condition, ERPs showed a greater positivity at frontocentral electrodes, source localized in the supplementary motor area (SMA).

Conclusion:

SMA activation could reflect a control mechanism over reflexive motor activity, facilitating a possible threat-related response. Further studies should address ERP effects and the extent of the RHI to standard and threat stimuli in a correlative fashion to further elucidate the functional significance of the neurophysiological findings.
The specific anti-hostility effect of lurasidone in patients with an acute exacerbation of schizophrenia: results of pooled post hoc analyses in adolescents and adults
Authors: Citrome Leslie , Álvarez-Barón Elena , Gabarda-Inat Irene , Thangavelu Karthinathan , Tocco Michael
Published: July 2024

Symptoms of hostility in patients during acute exacerbations of schizophrenia have been associated with aggressive behavior. Data suggest that some second-generation antipsychotics have specific anti-hostility effects, independent of sedation and positive symptom improvement. Two post hoc analyses were performed to examine the efficacy of lurasidone for reducing hostility in patients with schizophrenia. One analysis pooled adults (N = 1168) from 5 placebo-controlled, 6-week trials of lurasidone (40–160 mg). Another analysis pooled younger patients (up to age 25 years, N = 427) from the adult studies and a similarly designed trial of lurasidone (40 or 80 mg) in adolescent patients (13–17 years old). The outcome measure was mean change in the hostility item (P7) of the Positive and Negative Syndrome Scale (PANSS). To address pseudospecificity, results were adjusted for positive symptom change and sedation. In adults with a baseline PANSS hostility score ≥2, significant improvement in hostility was observed for all doses with a dose-related increase in effect size (Cohen’s d): lurasidone 40 mg = 0.18, 80 mg = 0.24, 120 mg = 0.36, and 160 mg = 0.53. The same dose–response pattern was observed for the more severe hostility subgroups (P7: ≥3, ≥4), and in the early-onset population. Results suggest that lurasidone has specific, dose-related anti-hostility effects.