bluuebunny/crossref_metadata_2025_split huggingface dataset:
Causes of nephrotic syndrome in Sweden: The relevance of clinical presentation and demographics
Authors: Jönsson Anneli , Hellmark Thomas , Segelmark Mårten , Forsberg Anna , Dreja Karl 
Published: March 2023

BackgroundMany pathological processes can disrupt the integrity of the glomerular capillary wall and cause a massive leakage of protein, resulting in nephrotic syndrome (NS). Clinical parameters such as age, sex, renal function, presence of diabetes, and how NS is defined influence the spectrum of underlying diseases. In this study, we examine how these parameters interact.MethodsAge, sex, hematuria, proteinuria, plasma creatinine plasma albumin levels, and final diagnosis were retrieved for all adult patients with NS as an indication for biopsy and/or massive albuminuria in conjunction with low plasma albumin from the biopsy module of the Swedish Renal Registry (SRR) between 2014 and 2019. A basic calculator was developed to demonstrate the importance of clinical presentation in relation to the likelihood of having a specific diagnosis.ResultsA total of 913 unique patients were included in the study. Diabetic nephropathy (DN) and membranous nephropathy (MN) (both found in 17% of patients) were the most common diagnoses. With a stringent definition of NS, MN and minimal change nephropathy (MCN) increased in proportion. Among the cohort as a whole, MCN was the most frequent diagnosis in women and those &lt; 50 years of age (found in 21% and 17%, respectively). In the case of patients aged between 50 and 70 years, those with chronic kidney disease stage 4, and those with negative dipstick tests for hematuria, the most common underlying disease was DN (in 23%, 30%, and 21% of cases, respectively). Among those with high-grade hematuria (dipstick grade 3 or 4), membranoproliferative glomerulonephritis was the most common diagnosis (14%), closely followed by IgA nephropathy (13%). Focal segmental glomerulosclerosis (9.7%) was less common than in many comparable studies.ConclusionClinical parameters have a profound impact on the likelihood of different diagnoses in adult patients with NS. Differences in clinical practice and study inclusion criteria may be more important than genetic background and environmental factors when explaining differences between studies in different parts of the world.
Association between fatty acids intake and bone mineral density in adults aged 20–59: NHANES 2011–2018
Authors: Fang Ze-Bin , Wang Gao-Xiang , Cai Gui-Zhang , Zhang Peng-Xiang , Liu De-Liang , Chu Shu-Fang , Li Hui-Lin , Zhao Hing-Xia 
Published: March 2023

BackgroundPrevious studies have investigated the link between fatty acid intake and bone mineral density (BMD), but the results are controversial. This study aims to examine the relationship between fatty acid intake and BMD in adults aged 20–59.MethodsThe association between fatty acid consumption and BMD was analyzed using a weighted multiple linear regression model with National Health and Nutrition Examination Survey data from 2011 to 2018. The linearity relationship and saturation value of the connection between fatty acid consumption and BMD were assessed by fitting a smooth curve and a saturation effect analysis model.ResultsThe study included 8,942 subjects. We found a significant positive correlation between the consumption of saturated fatty acids, monounsaturated fatty acids (MUFAs), and polyunsaturated fatty acids and BMD. In subgroup analyses that were stratified by gender and race, this association was still shown to be significant. Based on the smooth curve and saturation effect analysis, we found no saturation effect for the three fatty acids and total BMD. However, there was a turning point (20.52 g/d) between MUFAs intake and BMD, and only MUFAs intake &gt;20.52 g/d showed a positive correlation between MUFAs and BMD.ConclusionWe found that fatty acid intake is beneficial for bone density in adults. Therefore, according to our findings, it is recommended that adults consume moderate amounts of fatty acids to ensure adequate bone mass but not metabolic diseases.
Giant desmoplastic small round cell tumor of the abdomen: A case report
Authors: Wang Wuke , Chen Yunjie , Wang Chunnian , Su Hui 
Published: March 2023

BackgroundDesmoplastic small round cell tumor (DSRCT) is a rare, aggressive, mesenchymal malignancy of a separate clinicopathological entity. It has a predilection for young men, with no evidence of any ethnic predilection. The current diagnostic gold standard for DSRCT includes histopathologic, immunohistochemical, and cytogenetic studies in order to confirm the variable phenotypic expression and characteristic chromosomal translocation.Case summaryA 65-year-old man presented with a sensation of an abdominal mass and a presentation of an incomplete bowel obstruction. Initial lab tests were in the normal range except for carbohydrate antigen. Contrast-enhanced CT showed that a large, mass-confounding density was occupied in the omentum majus area of the middle and lower abdominal wall. A 3D reconstruction of the images was performed to clarify the relationship between the tumor and the colon and was confirmed by a colonoscopy. After surgery, immunohistochemistry and fluorescence in situ hybridization (FISH) revealed EWSR1-WT1 gene rearrangement at 22q12, confirming the diagnosis of desmoplastic small round cell tumor.ConclusionBeing different from the predilection of DSRCT for young men, the patient in our case is a 65-year-old man with a huge mass involving the transverse colon and the bladder.
BOMB trial: First results of stereotactic radiotherapy to primary breast tumor in metastatic breast cancer patients
Authors: Ippolito Edy , Silipigni Sonia , Pantano Francesco , Matteucci Paolo , Carrafiello Sofia , Marrocco Maristella , Alaimo Rita , Palumbo Vincenzo , Fiore Michele , Orsaria Paolo , D’Angelillo Rolando Maria , Altomare Vittorio , Tonini Giuseppe , Ramella Sara 
Published: March 2023

AimA prospective dose escalation trial was developed to evaluate the maximum tolerated dose of stereotactic body radiotherapy (SABRT) to primary breast cancer in stage IV disease. The aim of the present report was to describe safety and outcome of the first dose level cohort of patients.Material and methodsPatients with histologically confirmed diagnosis of invasive breast carcinoma (biological immuno-histochemical profile: luminal and/or HER2 positive) and distant metastatic disease not progressing after 6 months of systemic therapy with a tumor CT or 5FDG-PET detectable were deemed eligible. The starting dose was 40 Gy in 5 fractions (level 1) because this dose proved to be safe in previous dose-escalation trial on adjuvant stereotactic body radiotherapy. The maximum dose level was chosen as 45 Gy in 5 fractions. Dose limiting toxicity was any grade 3 or worse toxicity according to CTCAE v.4. Time-to-event Keyboard (TITE-Keyboard) design (Lin and Yuan, Biostatistics 2019) was used to find the maximum tolerated dose (MTD). MTD was the dose of radiotherapy associated with a ≤ 20% rate pre-specified treatment-related dose-limiting toxicity (DLT).ResultsTo date 10 patients have been treated at the starting dose level. Median age was 80 years (range 50-89). 7 patients had a luminal disease, while 3 patients had an HER2 positive disease. No patient suspended ongoing systemic treatment. No protocol defined DLTs were observed. Grade 2 skin toxicity occurred in 4 patients with diseases located close to or involving the skin. Median follow-up was 13 months and all 10 patients were evaluable for response: 5 achieved a complete response, 3 achieved a partial response and 2 showed a stable disease, all with a clinical benefit (resolution of skin retraction, bleeding and pain). The mean reduction in the sum of the largest diameters of target lesions was of 61.4% (DS=17.0%).ConclusionsSABR to primary breast cancer seems feasible and is associated with symptoms reduction. Continued accrual to this study is needed to confirm the safety and assess the MTD.Clinical trial registrationClinicalTrials.gov, identifier NCT05229575.
Machine learning in non-small cell lung cancer radiotherapy: A bibliometric analysis
Authors: Zhang Jiaming , Zhu Huijun , Wang Jue , Chen Yulu , Li Yihe , Chen Xinyu , Chen Menghua , Cai Zhengwen , Liu Wenqi 
Published: March 2023

BackgroundMachine learning is now well-developed in non-small cell lung cancer (NSCLC) radiotherapy. But the research trend and hotspots are still unclear. To investigate the progress in machine learning in radiotherapy NSCLC, we performed a bibliometric analysis of associated research and discuss the current research hotspots and potential hot areas in the future.MethodsThe involved researches were obtained from the Web of Science Core Collection database (WoSCC). We used R-studio software, the Bibliometrix package and VOSviewer (Version 1.6.18) software to perform bibliometric analysis.ResultsWe found 197 publications about machine learning in radiotherapy for NSCLC in the WoSCC, and the journal Medical Physics contributed the most articles. The University of Texas MD Anderson Cancer Center was the most frequent publishing institution, and the United States contributed most of the publications. In our bibliometric analysis, “radiomics” was the most frequent keyword, and we found that machine learning is mainly applied to analyze medical images in the radiotherapy of NSCLC.ConclusionThe research we identified about machine learning in NSCLC radiotherapy was mainly related to the radiotherapy planning of NSCLC and the prediction of treatment effects and adverse events in NSCLC patients who were under radiotherapy. Our research has added new insights into machine learning in NSCLC radiotherapy and could help researchers better identify hot research areas in the future.
Study on the role and pharmacology of cuproptosis in gastric cancer
Authors: Jiang Lin , Liao Junzuo , Han Yunwei 
Published: March 2023

ObjectiveGastric cancer has a poor prognosis and high mortality. Cuproptosis, a novel programmed cell death, is rarely studied in gastric cancer. Studying the mechanism of cuproptosis in gastric cancer is conducive to the development of new drugs, improving the prognosis of patients and reducing the burden of disease.MethodsThe TCGA database was used to obtain transcriptome data from gastric cancer tissues and adjacent tissues. GSE66229 was used for external verification. Overlapping genes were obtained by crossing the genes obtained by differential analysis with those related to copper death. Eight characteristic genes were obtained by three dimensionality reduction methods: lasso, SVM, and random forest. ROC and nomogram were used to estimate the diagnostic efficacy of characteristic genes. The CIBERSORT method was used to assess immune infiltration. ConsensusClusterPlus was used for subtype classification. Discovery Studio software conducts molecular docking between drugs and target proteins.ResultsWe have established the early diagnosis model of eight characteristic genes (ENTPD3, PDZD4, CNN1, GTPBP4, FPGS, UTP25, CENPW, and FAM111A) for gastric cancer. The results are validated by internal and external data, and the predictive power is good. The subtype classification and immune type analysis of gastric cancer samples were performed based on the consensus clustering method. We identified C2 as an immune subtype and C1 as a non-immune subtype. Small molecule drug targeting based on genes associated with cuproptosis predicts potential therapeutics for gastric cancer. Molecular docking revealed multiple forces between Dasatinib and CNN1.ConclusionThe candidate drug Dasatinib may be effective in treating gastric cancer by affecting the expression of the cuproptosis signature gene.
Clinical characteristics and survival of second primary breast carcinoma with extramammary malignancies
Authors: Jing Yaoyao , Wang Xiaofang , Sun Bei 
Published: March 2023

ObjectivesTo investigate the characteristics, diagnosis, survival and prognosis of second primary breast carcinoma (SPBC).Materials and methodsRecords of 123 patients with SPBC in Tianjin Medical University Cancer Institute &amp; Hospital between December 2002 and December 2020 were retrospectively reviewed. Clinical characteristics, imaging features and survival were analyzed and comparisons between SPBC and breast metastases (BM) were made.ResultsOf 67156 newly diagnosed breast cancer patients, 123 patients (0.18%) suffered previous extramammary primary malignancies. Of the 123 patients with SPBC, approximately 98.37%(121/123)were female. The median age was 55 years old (27-87). The average diameter of breast mass was 2.7 cm (0.5-10.7). Approximately 77.24% (95/123) of the patients presented with symptoms. The most common types of extramammary primary malignancies were thyroid, gynecological cancers, lung, and colorectal. Patients with the first primary malignant tumor of lung cancer were more likely to develop synchronous SPBC, and those with the first primary malignant tumor of ovarian cancer were more likely to develop metachronous SPBC. When comparing with BM, patients with SPBC were more often older (≥45 years old), at earlier stages (I/II), more microcalcification and less multiple breast masses in imaging. More than half (55.88%) of patients in the metachronous group developed primary breast cancer within 5 years after diagnosis of extramammary primary cancer. The median overall survival time was 71 months. Within 90 months, the prognosis of patients with synchronous SPBC was worse than that of patients with metachronous SPBC (p=0.014). Patients with BM had the worst outcome compared with patients with synchronous SPBC and metachronous SPBC (p&lt;0.001).ER/PR-negative status, an interval of less than 6 months between the onset of two tumors, a late stage of first primary malignancy, and an age of diagnosis of first primary malignancy greater than 60 years predicted a worse prognosis for patients with SPBC.ConclusionThe possibility of SPBC should be considered during the follow-up of patients with primary extramammary malignancy, especially within 5 years of the onset of the first tumor. The stage of first primary malignancy and the age at diagnosis of first primary malignancy have an impact on the prognosis of patients with SPBC.
Physical activity and physical fitness in children with heritable connective tissue disorders
Authors: de Koning Lisanne , Warnink-Kavelaars Jessica , van Rossum Marion , Limmen Selina , Van der Looven Ruth , Muiño-Mosquera Laura , van der Hulst Annelies , Oosterlaan Jaap , Rombaut Lies , Engelbert Raoul ,   on behalf of the Pediatric Heritable Connective Tissue Disorders Study Group
Published: March 2023

ObjectivesHealth problems in patients with heritable connective tissue disorders (HCTD) are diverse and complex and might lead to lower physical activity (PA) and physical fitness (PF). This study aimed to investigate the PA and PF of children with heritable connective tissue disorders (HCTD).MethodsPA was assessed using an accelerometer-based activity monitor (ActivPAL) and the mobility subscale of the Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT). PF was measured in terms of cardiovascular endurance using the Fitkids Treadmill Test (FTT); maximal hand grip strength, using hand grip dynamometry (HGD) as an indicator of muscle strength; and motor proficiency, using the Bruininks-Oseretsky Test of Motor Proficiency-2 (BOTMP-2).ResultsA total of 56 children, with a median age of 11.6 (interquartile range [IQR], 8.8–15.8) years, diagnosed with Marfan syndrome (MFS), n = 37, Loeys-Dietz syndrome (LDS), n = 6, and genetically confirmed Ehlers-Danlos (EDS) syndromes, n = 13 (including classical EDS n = 10, vascular EDS n = 1, dermatosparaxis EDS n = 1, arthrochalasia EDS n = 1), participated. Regarding PA, children with HCTD were active for 4.5 (IQR 3.5–5.2) hours/day, spent 9.2 (IQR 7.6–10.4) hours/day sedentary, slept 11.2 (IQR 9.5–11.5) hours/day, and performed 8,351.7 (IQR 6,456.9–1,0484.6) steps/day. They scored below average (mean (standard deviation [SD]) z-score −1.4 (1.6)) on the PEDI-CAT mobility subscale. Regarding PF, children with HCTD scored well below average on the FFT (mean (SD) z-score −3.3 (3.2)) and below average on the HGD (mean (SD) z-score −1.1 (1.2)) compared to normative data. Contradictory, the BOTMP-2 score was classified as average (mean (SD) z-score.02 (.98)). Moderate positive correlations were found between PA and PF (r(39) = .378, p &lt; .001). Moderately sized negative correlations were found between pain intensity and fatigue and time spent actively (r(35) = .408, p &lt; .001 and r(24) = .395 p &lt; .001, respectively).ConclusionThis study is the first to demonstrate reduced PA and PF in children with HCTD. PF was moderately positively correlated with PA and negatively correlated with pain intensity and fatigue. Reduced cardiovascular endurance, muscle strength, and deconditioning, combined with disorder-specific cardiovascular and musculoskeletal features, are hypothesized to be causal. Identifying the limitations in PA and PF provides a starting point for tailor-made interventions.
Prenatal phenotype features and genetic etiology of the Williams-Beuren syndrome and literature review
Authors: Wang Yunan , Liu Chang , Hu Rong , Geng Juan , Lu Jian , Zhao Xianzhe , Xiong Ying , Wu Jing , Yin Aihua 
Published: March 2023

ObjectiveTo share our experience on prenatal diagnosis of Williams-Beuren syndrome(WBS) and to improve the awareness, diagnosis, and intrauterine monitoring of the fetuses of this disease.MethodsThe study retrospectively evaluated 14 cases of WBS diagnosed prenatally by single nucleotide polymorphism array (SNP-array). Clinical data from these cases were systematically reviewed, including maternal demographics, indications for invasive prenatal diagnosis, ultrasound findings, SNP-array results, trio-medical exome sequencing (Trio-MES) results, QF-PCR results, pregnancy outcomes and follow-ups.ResultsA total of 14 fetuses were diagnosed with WBS and their prenatal phenotypes were assessed retrospectively. In our case series, the most common ultrasound features were intrauterine growth retardation (IUGR), congenital cardiovascular defects, abnormal fetal placental doppler indices, thickened nuchal translucency(NT) and polyhydramnios. Other less common ultrasound features include fetal hydrops, hydroderma, bilateral pleural effusion, subependymal cysts, etc. Parental chromosome analysis was performed in seven pairs of parents, and all the deletions on chromosome 7q11.23 were de novo.ConclusionPrenatal ultrasound features of WBS cases are highly variable, with IUGR, cardiovascular abnormalities and abnormal fetal placental doppler indices, being the most common intrauterine phenotypes. Our case series expand the intrauterine phenotypes of WBS, including cardiovascular abnormalities right aortic arch(RAA) combined with persistent right umbilical vein(PRUV) and elevated the ratio of end-systolic peak flow velocity to end-diastonic peak flow velocity(S/D). In the meantime, with the decrease in the cost of the next-generation sequencing, the method may become widely used in prenatal diagnosis in the near future.
Dynamics of capillary blood flow responses to acute local changes in oxygen and carbon dioxide concentrations
Authors: Russell McEvoy Gaylene M. , Wells Brenda N. , Kiley Meghan E. , Kaur Kanika K. , Fraser Graham M. 
Published: March 2023

Objectives:We aimed to quantify the magnitude and time transients of capillary blood flow responses to acute changes in local oxygen concentration ([O2]), and carbon dioxide concentration ([CO2]) in skeletal muscle. Additionally, we sought to quantify the combined response to both low [O2] and high [CO2] to mimic muscle microenvironment changes at the onset of exercise.Methods:13 Sprague Dawley rats were anaesthetized, mechanically ventilated, and instrumented with indwelling catheters for systemic monitoring. The extensor digitorum longus muscle was blunt dissected, and reflected over a microfluidic gas exchange chamber in the stage of an inverted microscope. Four O2challenges, four CO2challenges, and a combined low O2(7–2%) and high CO2(5–10%) challenges were delivered to the surface with simultaneous visualization of capillary blood flow responses. Recordings were made for each challenge over a 1-min baseline period followed by a 2-min step change. The combined challenge employed a 1-min [O2] challenge followed by a 2-min change in [CO2]. Mean data for each sequence were fit using least-squared non-linear exponential models to determine the dynamics of each response.Results:7–2% [O2] challenges decreased capillary RBC saturation within 2 s following the step change (46.53 ± 19.56% vs. 48.51 ± 19.02%,p&lt; 0.0001,τ= 1.44 s), increased RBC velocity within 3 s (228.53 ± 190.39 μm/s vs. 235.74 ± 193.52 μm/s,p&lt; 0.0003,τ= 35.54 s) with a 52% peak increase by the end of the challenge, hematocrit and supply rate show similar dynamics. 5–10% [CO2] challenges increased RBC velocity within 2 s following the step change (273.40 ± 218.06 μm/s vs. 276.75 ± 215.94 μm/s,p= 0.007,τ= 79.34s), with a 58% peak increase by the end of the challenge, supply rate and hematocrit show similar dynamics. Combined [O2] and [CO2] challenges resulted in additive responses to all microvascular hemodynamic measures with a 103% peak velocity increase by the end of the collection period. Data for mean responses and exponential fitting parameters are reported for all challenges.Conclusion:Microvascular level changes in muscle [O2] and [CO2] provoked capillary hemodynamic responses with differing time transients. Simulating exercise via combined [O2] and [CO2] challenges demonstrated the independent and additive nature of local blood flow responses to these agents.
The correlation between a Th1/Th2 cytokines imbalance and vitamin D level in patients with early chronic obstructive pulmonary disease (COPD), based on screening results
Authors: Tang Wenhui , Rong Yan , Zhang Hongmei , Zhan Zi’e , Yuan Long , Ning Yan , Lin Wenji 
Published: March 2023

Objective: This study explored the correlation between a Th1/Th2 cytokines imbalance and 25-hydroxy-vitamin D (vit D) level in early chronic obstructive pulmonary disease (COPD), provided experimental rationales for the role of vit D in the prevention and control of COPD, and elucidated the potential anti-inflammatory mechanism involved.Methods: This study was based on the results of the “Screening and Early Diagnosis of COPD” public health project conducted through Shenzhen Municipal Qianhai Shekou Free Trade Zone Hospital. Patients with early COPD were selected as study participants. A prospective, randomized, and controlled method was employed for assigning eligible participants into three groups, i.e., a COPD lung function (LF) I, COPD LF II, and a healthy group, respectively (n = 40 each). The serum content of tumor necrosis factor alpha (TNF-α), interferon-gamma (IFN-γ), interleukin 4 (IL-4), and IL-6 were measured by enzyme-linked immunosorbent assay, and the ratio of IFN-γ/IL-4 treated as a marker for Th1/Th2. The serum concentration of 25-hydroxyl-vit D (25 [OH]D) was quantified by a chemiluminescence assay. Statistical processing was performed, and the correlations between changes in the above parameters with vit D level and LF parameters were examined.Results: There were differences in FEV1pred%, FEV1/FVC, IFN-γ, IL-4, IL-6 and IFN-γ/IL-4 between the healthy group, the COPD LF I group and the COPD LF II group (p &lt; 0.05). In early COPD, Th1/Th2 cytokines was positively correlated with forced expiratory volume/expected value (FEV1pred%) (r = 0.485, p &lt; 0.001) and forced expiratory volume/forced vital capacity (FEV1/FVC) (r = 0.273, p = 0.018); Th1/Th2 cytokines levels positively correlated with vit D level (r = 0.27, p = 0.02), and 25(OH)D level positively correlated with FEV1pred% (r = 0.695, p &lt; 0.001).Conclusion: Vitamin D deficiency was ubiquitous in patients with early COPD. It was positively correlated with the FEV1pred% and FEV1/FVC LF parameters. Accordingly, this study provides experimental rationales for the role of vit D in the prevention and control of COPD and the potential anti-inflammatory mechanisms involved.