bluuebunny/crossref_metadata_2025_split huggingface dataset:
Deep learning for automatic head and neck lymph node level delineation provides expert-level accuracy
Authors: Weissmann Thomas , Huang Yixing , Fischer Stefan , Roesch Johannes , Mansoorian Sina , Ayala Gaona Horacio , Gostian Antoniu-Oreste , Hecht Markus , Lettmaier Sebastian , Deloch Lisa , Frey Benjamin , Gaipl Udo S. , Distel Luitpold Valentin , Maier Andreas , Iro Heinrich , Semrau Sabine , Bert Christoph , Fietkau Rainer , Putz Florian 
Published: February 2023

BackgroundDeep learning-based head and neck lymph node level (HN_LNL) autodelineation is of high relevance to radiotherapy research and clinical treatment planning but still underinvestigated in academic literature. In particular, there is no publicly available open-source solution for large-scale autosegmentation of HN_LNL in the research setting.MethodsAn expert-delineated cohort of 35 planning CTs was used for training of an nnU-net 3D-fullres/2D-ensemble model for autosegmentation of 20 different HN_LNL. A second cohort acquired at the same institution later in time served as the test set (n = 20). In a completely blinded evaluation, 3 clinical experts rated the quality of deep learning autosegmentations in a head-to-head comparison with expert-created contours. For a subgroup of 10 cases, intraobserver variability was compared to the average deep learning autosegmentation accuracy on the original and recontoured set of expert segmentations. A postprocessing step to adjust craniocaudal boundaries of level autosegmentations to the CT slice plane was introduced and the effect of autocontour consistency with CT slice plane orientation on geometric accuracy and expert rating was investigated.ResultsBlinded expert ratings for deep learning segmentations and expert-created contours were not significantly different. Deep learning segmentations with slice plane adjustment were rated numerically higher (mean, 81.0 vs. 79.6, p = 0.185) and deep learning segmentations without slice plane adjustment were rated numerically lower (77.2 vs. 79.6, p = 0.167) than manually drawn contours. In a head-to-head comparison, deep learning segmentations with CT slice plane adjustment were rated significantly better than deep learning contours without slice plane adjustment (81.0 vs. 77.2, p = 0.004). Geometric accuracy of deep learning segmentations was not different from intraobserver variability (mean Dice per level, 0.76 vs. 0.77, p = 0.307). Clinical significance of contour consistency with CT slice plane orientation was not represented by geometric accuracy metrics (volumetric Dice, 0.78 vs. 0.78, p = 0.703).ConclusionsWe show that a nnU-net 3D-fullres/2D-ensemble model can be used for highly accurate autodelineation of HN_LNL using only a limited training dataset that is ideally suited for large-scale standardized autodelineation of HN_LNL in the research setting. Geometric accuracy metrics are only an imperfect surrogate for blinded expert rating.
Unmanipulated haploidentical hematopoietic stem cell transplantation for pediatric de novo acute megakaryoblastic leukemia without Down syndrome in China: A single-center study
Authors: Huang Junbin , Hu Guanhua , Suo Pan , Bai Lu , Cheng Yifei , Wang Yu , Zhang XiaoHui , Liu KaiYan , Sun YuQian , Xu LanPing , Kong Jun , Yan ChenHua , Huang Xiaojun 
Published: February 2023

BackgroundAMKL without DS is a rare but aggressive hematological malignant disease in children, and it is associated with inferior outcomes. Several researchers have regarded pediatric AMKL without DS as high-risk or at least intermediate-risk AML and proposed that upfront allogenic hematopoietic stem cell transplantation (HSCT) in first complete remission might improve long-term survival.Patients and methodWe conducted a retrospective study with twenty-five pediatric (&lt; 14 years old) AMKL patients without DS who underwent haploidentical HSCT in the Peking University Institute of Hematology, Peking University People’s Hospital from July 2016 to July 2021. The diagnostic criteria of AMKL without DS were adapted from the FAB and WHO: ≥ 20% blasts in the bone marrow, and those blasts expressed at least one or more of the platelet glycoproteins: CD41, CD61, or CD42. AMKL with DS and therapy related AML was excluded. Children without a suitable closely HLA-matched related or unrelated donor (donors with more than nine out of 10 matching HLA-A, HLA-B, HLA-C, HLA-DR, and HLA-DQ loci), were eligible to receive haploidentical HSCT. Definition was adapted from international cooperation group. All statistical tests were conducted with SPSS v.24 and R v.3.6.3.ResultsThe 2-year OS was 54.5 ± 10.3%, and the EFS was 50.9 ± 10.2% in pediatric AMKL without DS undergoing haplo-HSCT. Statistically significantly better EFS was observed in patients with trisomy 19 than in patients without trisomy 19 (80 ± 12.6% and 33.3 ± 12.2%, respectively, P = 0.045), and OS was better in patients with trisomy 19 but with no statistical significance (P = 0.114). MRD negative pre-HSCT patients showed a better OS and EFS than those who were positive (P &lt; 0.001 and P = 0.003, respectively). Eleven patients relapsed post HSCT. The median time to relapse post HSCT was 2.1 months (range: 1.0–14.4 months). The 2-year cumulative incidence of relapse (CIR) was 46.1 ± 11.6%. One patient developed bronchiolitis obliterans and respiratory failure and died at d + 98 post HSCT.ConclusionAMKL without DS is a rare but aggressive hematological malignant disease in children, and it is associated with inferior outcomes. Trisomy 19 and MRD negative pre-HSCT might contribute to a better EFS and OS. Our TRM was low, haplo-HSCT might be an option for high-risk AMKL without DS.
Prognostic value of prognostic nutritional index score and controlling nutritional status score in patients with glioblastoma: A comprehensive meta-analysis
Authors: Peng Jie , Li Xiaoyu , Huang Mingsheng , Ma Mincai , Huang Qin , Huang Ning , Cheng Yuan 
Published: February 2023

IntroductionSeveral nutritional indicators, including the prognostic nutritional index (PNI) score and the controlling nutritional status (CONUT) score, have been shown to predict the prognosis of patients with glioblastoma. The present meta-analysis was performed to further evaluate the prognostic value of PNI and CONUT scores in patients with glioblastoma.MethodThe PubMed, EMBASE and Web of Science databases were comprehensively searched for studies that evaluated the ability of PNI and CONUT scores to predict the prognosis of patients with glioblastoma. Hazard ratios (HR) and 95% confidence intervals (CIs) were calculated by univariate and multivariate analyses.ResultTen articles were included in this meta-analysis, involving 1406 patients with glioblastoma. Univariate analyses showed that a high PNI score was predictive of greater overall survival (OS; HR 0.50; 95% CI, 0.43, 0.58; I2 = 0%) and progression free survival (PFS; HR 0.63; 95% CI, 0.50, 0.79; I2 = 0%), whereas a low CONUT score predictive of longer OS (HR 2.39; 95% CI, 1.77, 3.23; I2 = 25%). Multivariate analyses showed that high PNI score (HR 0.64; 95% CI, 0.49, 0.84; I2 = 24%) and low CONUT score (HR 2.79; 95% CI, 2.01, 3.89; I2 = 39%) were independently associated with longer OS, whereas PNI score was not significantly associated with PFS (HR 1.02; 95% CI, 0.65, 1.59; I2 = 0%).ConclusionPNI scores and CONUT scores have prognostic value in patients with glioblastoma. Additional large-scale studies, however, are required to confirm these results.
Case report: A rare case of thyrotropin-secreting pituitary macroadenoma with diffuse calcification presenting with hyperthyroidism and literature review
Authors: Yan Huiying , Yan Chaolong , Mao Jiannan , Jin Wei 
Published: February 2023

BackgroundThyroid-stimulating hormone (TSH)-secreting pituitary adenomas (TSHomas) are rare and usually present with hyperthyroidism. Calcification in pituitary tumors is an infrequent finding. Herein, we report an extremely rare case of TSHoma with diffuse calcification.Case descriptionA 43-year-old man was admitted to our department with a complaint of palpitations. An endocrinological examination revealed elevated serum levels of TSH, free triiodothyronine (FT3), and free thyroxin, whereas the physical examination revealed no obvious abnormality. Computerized tomography (CT) showed a sellar mass with diffuse calcification. Contrast-enhanced T1-weighted images revealed a less-enhancing tumor without obvious suprasellar or parasellar expansion. The tumor was completely removed via endoscopic transnasal-sphenoidal surgery. Microscopically, nests of cells were inconspicuous among the diffuse psammoma bodies. Expression of TSH was patchy, and only several TSH-positive cells were observed. Postoperatively, the serum levels of TSH, FT3, and FT4 decreased to their normal range. Follow-up MR images showed no evidence of residual tumor or regrowth after the resection.ConclusionsHerein, we report a rare case of TSHoma with diffuse calcification that presented with hyperthyroidism. A correct and early diagnosis was made according to the European Thyroid Association guidelines. This tumor was completely removed via endoscopic transnasal-transsphenoidal surgery (eTSS), and thyroid function was normalized after the operation.
Breast cancer subtype and clinical characteristics in women from Peru
Authors: Zavala Valentina A. , Casavilca-Zambrano Sandro , Navarro-Vásquez Jeannie , Tamayo Lizeth I. , Castañeda Carlos A. , Valencia Guillermo , Morante Zaida , Calderón Mónica , Abugattas Julio E. , Gómez Henry L. , Fuentes Hugo A. , Liendo-Picoaga Ruddy , Cotrina Jose M. , Neciosup Silvia P. , Roque Katia , Vásquez Jule , Mas Luis , Gálvez-Nino Marco , Fejerman Laura , Vidaurre Tatiana 
Published: February 2023

IntroductionBreast cancer is a heterogeneous disease, and the distribution of the different subtypes varies by race/ethnic category in the United States and by country. Established breast cancer-associated factors impact subtype-specific risk; however, these included limited or no representation of Latin American diversity. To address this gap in knowledge, we report a description of demographic, reproductive, and lifestyle breast cancer-associated factors by age at diagnosis and disease subtype for The Peruvian Genetics and Genomics of Breast Cancer (PEGEN-BC) study.MethodsThe PEGEN-BC study is a hospital-based breast cancer cohort that includes 1943 patients diagnosed at the Instituto Nacional de Enfermedades Neoplásicas in Lima, Peru. Demographic and reproductive information, as well as lifestyle exposures, were collected with a questionnaire. Clinical data, including tumor Hormone Receptor (HR) status and Human Epidermal Growth Factor Receptor 2 (HER2) status, were abstracted from electronic medical records. Differences in proportions and mean values were tested using Chi-squared and one-way ANOVA tests, respectively. Multinomial logistic regression models were used for multivariate association analyses.ResultsThe distribution of subtypes was 52% HR+HER2-, 19% HR+HER2+, 16% HR-HER2-, and 13% HR-HER2+. Indigenous American (IA) genetic ancestry was higher, and height was lower among individuals with the HR-HER2+ subtype (80% IA vs. 76% overall, p=0.007; 152 cm vs. 153 cm overall, p=0.032, respectively). In multivariate models, IA ancestry was associated with HR-HER2+ subtype (OR=1.38,95%CI=1.06-1.79, p=0.017) and parous women showed increased risk for HR-HER2+ (OR=2.7,95%CI=1.5-4.8, p&lt;0.001) and HR-HER2- tumors (OR=2.4,95%CI=1.5-4.0, p&lt;0.001) compared to nulliparous women. Multiple patient and tumor characteristics differed by age at diagnosis (&lt;50 vs. &gt;=50), including ancestry, region of residence, family history, height, BMI, breastfeeding, parity, and stage at diagnosis (p&lt;0.02 for all variables).DiscussionThe characteristics of the PEGEN-BC study participants do not suggest heterogeneity by tumor subtype except for IA genetic ancestry proportion, which has been previously reported. Differences by age at diagnosis were apparent and concordant with what is known about pre- and post-menopausal-specific disease risk factors. Additional studies in Peru should be developed to further understand the main contributors to the specific age of onset and molecular disease subtypes in this population and develop population-appropriate predictive models for prevention.
Steroid-resistant nephrotic syndrome associated with certain SGPL1 variants in a family: Case report and literature review
Authors: Yang Siying , He Yonghua , Zhou Jianhua , Yuan Huiqing , Qiu Liru 
Published: February 2023

ObjectivesSteroid-resistant nephrotic syndrome (SRNS) is a clinical syndrome characterized by the lack of response to standard steroid therapy, usually progressing to end-stage renal disease. We reported two cases of female identical twins with SRNS caused by SGPL1 variants in one family, reviewed the relevant literature, and summarized their clinical phenotypes, pathological types, and genotypic characteristics.MethodsTwo cases of nephrotic syndrome caused by SGPL1 variants were admitted to Tongji Hospital, affiliated with Tongji Medical College of Huazhong University of Science and Technology. Their clinical data were retrospectively collected, and the peripheral blood genomic DNA was captured and sequenced by whole exome sequencing. Related literature published in PubMed, CNKI, and Wan fang databases was reviewed.ResultsWe described two Chinese identical twin girls with isolated SRNS due to compound heterozygous variants in the SGPL1 (intron4 c.261 + 1G &gt; A and intron12 c.1298 + 6T &gt; C). The patients were followed up for 60.0 months and 53.0 months, respectively, having no extra-renal manifestations. They all died due to renal failure. A total of 31 children with SGPL1 variants causing nephrotic syndrome (including the reported two cases) were identified through a literature review.ConclusionsThese two female identical twins were the first reported cases of isolated SRNS caused by SGPL1 variants. Almost all homozygous and compound heterozygous variants of SGPL1 had extra-renal manifestations, but compound heterozygous variants in the intron of SGPL1 may have no obvious extra-renal manifestations. Additionally, a negative genetic testing result does not completely rule out genetic SRNS because the Human Gene Mutation Database or ClinVar is constantly being updated.
The role of breastfeeding as a protective factor against the development of the immune-mediated diseases: A systematic review
Authors: Alotiby Amna A. 
Published: February 2023

IntroductionBreast milk is rich in nutrients and immunological factors capable of protecting infants against various immunological diseases and disorders. The current systematic review has been framed with the objective of studying the role of breastfeeding as a protective factor against the development of immune-mediated diseases.MethodsThe database and website searches were performed using PubMed, PubMed Central, Nature, Springer, Nature, Web of Science, and Elsevier. The studies were scrutinized based on the nature of participants and the nature of disease considered. The search was restricted to infants with immune-mediated diseases such as diabetes mellitus, allergic conditions, diarrhoea, and rheumatoid arthritis.ResultsWe have included 28 studies, out of which seven deal with diabetes mellitus, two rheumatoid arthritis, five studies about Celiac Disease, twelve studies about allergic/ asthma/wheezing conditions and one study on each of the following diseases: neonatal lupus erythematosus and colitis.DiscussionBased on our analysis, breastfeeding in association with the considered diseases was found to be positive. Breastfeeding is involved as protective factor against various diseases. The role of breastfeeding in the prevention of diabetes mellitus has been found to be significantly higher than for other diseases.
The association between meeting physical activity guidelines and academic performance among junior high school adolescents in China-evidence from the China education tracking survey
Authors: Yang Jie , Wang Hai , Luo Lin 
Published: February 2023

PurposeTo examine how well Chinese adolescents meet the physical exercise time and screen time recommendations in the Physical Activity Guidelines for Chinese Residents (2021), and the relationship between adolescents’ physical exercise time, screen time and their academic performance.MethodDaily physical exercise time, screen time and academic performance were collected from Grade 8 adolescents (n = 9,449). Academic performance included standardized scores on Chinese, Math and English tests and responses to the School Life Experience Scale.ResultsMeeting the physical activity time and screen time in the Physical Activity Guidelines for Chinese Residents was associated with adolescents’ academic performance. Specifically, having at least 60 min of physical exercise per day was associated with adolescents’ school life experiences compared to adolescents who did not meet the physical exercise time and screen time in the Chinese Residents’ Physical Activity Guidelines. Less than 2  h of cumulative screen time per day was associated with adolescent mathematics test scores, English test scores and school life experiences. Meeting both physical exercise time and screen time to be recommended had more significant effects on adolescents’ mathematics, Chinese, English and school life experiences. Meeting both the physical exercise time and screen time recommendations in the Physical Activity Guidelines for Chinese Residents was more significantly associated with boys’ mathematics test scores, Chinese test scores and School life experience. Meeting both the physical exercise time and screen time requirements in the Physical Activity Guidelines for Chinese Residents had a more significant effect on School life experience for girls.ConclusionPhysical exercise participation of at least 60 min per day and/or less than 2  h of cumulative screen time per day were both associated with adolescent academic performance. Stakeholders should actively promote adolescents to follow the Physical Activity Guidelines for Chinese Residents (2021).
Manual development and efficacy of Mindful Living Group activities to promote trauma healing during the COVID-19 pandemic in China
Authors: Niu Ya-Nan , Long Di 
Published: February 2023

IntroductionDisasters can be traumatic with a profound and lasting impact on individuals. During the COVID-19 pandemic, our team developed the Mindful Living Group (MLG) activities manual based on Eastern body-mind wisdom and Western trauma healing theory to provide psychological assistance for trauma healing.MethodsIn this study, we introduce a framework developed for the 10-session MLG activities manual, which consists of three core modules. Thirty-one participants living all over the country who had experienced traumatic stress resulting from the COVID-19 pandemic received the MLG intervention. This single-arm intervention study offered psychological assistance during the pandemic. The MLG intervention included 10 weekly 2-h sessions held online. Participants completed the initial interview, pre-test, post-test, and 1-month follow-up interviews. The effectiveness of the MLG activities manual was evaluated using psychological measures, including Self-Rating Depression Scale, Self-Rating Anxiety Scale, Mindful Attention Awareness Scale, Post-traumatic Growth Inventory, General Self-Efficacy Scale, and the Perceived Social Support Scale.ResultsCompared with the pretest level, the post-test levels of depression (F = 42.78, p &lt; 0.001, η2 = 0.59) and anxiety (F = 23.40, p &lt; 0.001, η2 = 0.44) were significantly lower; and mindfulness (F = 12.98, p =0.001, η2 =0.30), posttraumatic growth (F = 27.06, p &lt; 0.001, η2 = 0.48), general self-efficacy (F = 13.20, p = 0.001, η2 = 0.31), and perceived social support (F = 16.27, p &lt; 0.001, η2 = 0.35) were significantly higher (ANOVA). Further correlation analysis revealed a significant negative relationship of mindfulness with both depression (r = −0.43, p = 0.015) and anxiety (r = −0.35, p = 0.053), and significant positive relationships of mindfulness with posttraumatic growth (r = 0.40, p = 0.025), general self-efficacy (r = 0.52, p = 0.003), and perceived social support (r = 0.40, p = 0.024).DiscussionThese preliminary findings showed the effectiveness of MLG activities for trauma healing. The mechanisms underlying mindfulness promoting trauma healing are discussed based on both Eastern body-mind wisdom and Western theories of trauma healing.Clinical trial registrationIdentifier, ChiCTR2000034164.
Global prevalence of developmental disabilities in children and adolescents: A systematic umbrella review
Authors: Olusanya Bolajoko O. , Smythe Tracey , Ogbo Felix A. , Nair M. K. C. , Scher Mark , Davis Adrian C. 
Published: February 2023

AimThe provisions of the United Nation's Sustainable Development Goals (SDGs) for disability-inclusive education have stimulated a growing interest in ascertaining the prevalence of children with developmental disabilities globally. We aimed to systematically summarize the prevalence estimates of developmental disabilities in children and adolescents reported in systematic reviews and meta-analyses.MethodsFor this umbrella review we searched PubMed, Scopus, Embase, PsycINFO, and Cochrane Library for systematic reviews published in English between September 2015 and August 2022. Two reviewers independently assessed study eligibility, extracted the data, and assessed risk of bias. We reported the proportion of the global prevalence estimates attributed to country income levels for specific developmental disabilities. Prevalence estimates for the selected disabilities were compared with those reported in the Global Burden of Disease (GBD) Study 2019.ResultsBased on our inclusion criteria, 10 systematic reviews reporting prevalence estimates for attention-deficit/hyperactivity disorder, autism spectrum disorder, cerebral palsy, developmental intellectual disability, epilepsy, hearing loss, vision loss and developmental dyslexia were selected from 3,456 identified articles. Global prevalence estimates were derived from cohorts in high-income countries in all cases except epilepsy and were calculated from nine to 56 countries. Sensory impairments were the most prevalent disabilities (approximately 13%) and cerebral palsy was the least prevalent disability (approximately 0.2–0.3%) based on the eligible reviews. Pooled estimates for geographical regions were available for vision loss and developmental dyslexia. All studies had a moderate to high risk of bias. GBD prevalence estimates were lower for all disabilities except cerebral palsy and intellectual disability.ConclusionAvailable estimates from systematic reviews and meta-analyses do not provide representative evidence on the global and regional prevalence of developmental disabilities among children and adolescents due to limited geographical coverage and substantial heterogeneity in methodology across studies. Population-based data for all regions using other approaches such as reported in the GBD Study are warranted to inform global health policy and intervention.