bluuebunny/crossref_metadata_2025_split huggingface dataset:
Case report: a premature infant with severe intrauterine growth restriction, adrenal insufficiency, and inflammatory diarrhea: a genetically confirmed case of MIRAGE syndrome
Authors: Go Anna , Lee Beom Hee , Choi Jin-Ho , Jeong Jiyoon , Jung Euiseok , Lee Byong Sop 
Published: September 2023

IntroductionMIRAGE syndrome is a rare disease characterized by myelodysplasia, infection, growth restriction, adrenal hypoplasia, genital phenotypes, and enteropathy. Herein, we report the case of a girl with MIRAGE syndrome who presented with adrenal insufficiency and chronic diarrhea.Case presentationThe patient was born at 29 + 6 weeks of gestational age with a birth weight of 656 g (&lt;3p). Her height and head circumference were also &lt;3p. At birth, she presented with respiratory distress, meconium staining, and pneumomediastinum, which were managed with high-frequency ventilation and empirical antibiotics. Physical examination showed generalized hyperpigmentation and normal female genitalia. A few days after birth, polyuria and hypotension developed, and laboratory findings revealed hypoglycemia, hyponatremia, and hyperkalemia. Plasma adrenocorticotropic hormone levels were elevated with low serum cortisol levels and high plasma renin activity, which were suggestive of adrenal insufficiency. Hydrocortisone and fludrocortisone were introduced and maintained, and hyperpigmentation attenuated with time. Both kidneys looked dysplastic, and adrenal glands could not be traced on abdominal ultrasound. From the early days of life, thrombocytopenia and anemia were detected, but not to life-threatening level and slowly recovered up to the normal range. Despite aggressive nutritional support, weight gain and growth spurt were severely retarded during the hospital stay. Additionally, after introducing enteral feeding, she experienced severe diarrhea and subsequent perineal skin rashes and ulcerations. Fecal calprotectin level was highly elevated; however, a small bowel biopsy resulted in non-specific submucosal congestion. The patient was diagnosed with MIRAGE syndrome with SAMD9 gene mutation. She was discharged with tube feeding and elemental formula feeding continued, but chronic diarrhea persisted. By the time of the last follow-up at 15 months of corrected age, she was fortunately not subjected to severe invasive infection and myelodysplastic syndrome. However, she was dependent on tube feeding and demonstrated a severe developmental delay equivalent to approximately 5–6 months of age.ConclusionThe early diagnosis of adrenal crisis and hormone replacement therapy can save the life of -patients with MIRAGE syndrome; however, chronic intractable diarrhea and growth and developmental delay continue to impede the patient’s well-being.
Using the community-based breeding program (CBBP) model as a collaborative platform to develop the African Goat Improvement Network—Image collection protocol (AGIN-ICP) with mobile technology for data collection and management of livestock phenotypes
Authors: Woodward-Greene M. Jennifer , Kinser Jason M. , Huson Heather J. , Sonstegard Tad S. , Soelkner Johann , Vaisman Iosif I. , Boettcher Paul , Masiga Clet W. , Mukasa Christopher , Abegaz Solomon , Agaba Morris , Ahmed Sahar S. , Maminiaina Oliver F. , Getachew Tesfaye , Gondwe Timothy N. , Haile Aynalem , Hassan Yassir , Kihara Absolomon , Kouriba Aly , Mruttu Hassan A. , Mujibi Denis , Nandolo Wilson , Rischkowsky Barbara A. , Rosen Benjamin D. , Sayre Brian , Taela Maria , Van Tassell Curtis P. 
Published: September 2023

Introduction: The African Goat Improvement Network Image Collection Protocol (AGIN-ICP) is an accessible, easy to use, low-cost procedure to collect phenotypic data via digital images. The AGIN-ICP collects images to extract several phenotype measures including health status indicators (anemia status, age, and weight), body measurements, shapes, and coat color and pattern, from digital images taken with standard digital cameras or mobile devices. This strategy is to quickly survey, record, assess, analyze, and store these data for use in a wide variety of production and sampling conditions.Methods: The work was accomplished as part of the multinational African Goat Improvement Network (AGIN) collaborative and is presented here as a case study in the AGIN collaboration model and working directly with community-based breeding programs (CBBP). It was iteratively developed and tested over 3 years, in 12 countries with over 12,000 images taken.Results and discussion: The AGIN-ICP development is described, and field implementation and the quality of the resulting images for use in image analysis and phenotypic data extraction are iteratively assessed. Digital body measures were validated using the PreciseEdge Image Segmentation Algorithm (PE-ISA) and software showing strong manual to digital body measure Pearson correlation coefficients of height, length, and girth measures (0.931, 0.943, 0.893) respectively. It is critical to note that while none of the very detailed tasks in the AGIN-ICP described here is difficult, every single one of them is even easier to accidentally omit, and the impact of such a mistake could render a sample image, a sampling day’s images, or even an entire sampling trip’s images difficult or unusable for extracting digital phenotypes. Coupled with tissue sampling and genomic testing, it may be useful in the effort to identify and conserve important animal genetic resources and in CBBP genetic improvement programs by providing reliably measured phenotypes with modest cost. Potential users include farmers, animal husbandry officials, veterinarians, regional government or other public health officials, researchers, and others. Based on these results, a final AGIN-ICP is presented, optimizing the costs, ease, and speed of field implementation of the collection method without compromising the quality of the image data collection.
Maternal body fluid lncRNAs serve as biomarkers to diagnose ventricular septal defect: from amniotic fluid to plasma
Authors: Wang Huaming , Lin Xi , Wang Xinda , Liu Xinxiu , He Shaozheng , Lyu Guorong 
Published: September 2023

Background: Maternal body fluids contain abundant cell-free fetal RNAs which have the potential to serve as indicators of fetal development and pathophysiological conditions. In this context, this study aimed to explore the potential diagnostic value of maternal circulating long non-coding RNAs (lncRNAs) in ventricular septal defect (VSD).Methods: The potential of lncRNAs as non-invasive prenatal biomarkers for VSD was evaluated using quantitative polymerase chain reaction (qPCR) and receiver operating characteristic (ROC) curve analysis. The biological processes and regulatory network of these lncRNAs were elucidated through bioinformatics analysis.Results: Three lncRNAs (LINC00598, LINC01551, and GATA3-AS1) were found to be consistent in both maternal plasma and amniotic fluid. These lncRNAs exhibited strong diagnostic performance for VSD, with AUC values of 0.852, 0.957, and 0.864, respectively. The bioinformatics analysis revealed the involvement of these lncRNAs in heart morphogenesis, actin cytoskeleton organization, cell cycle regulation, and protein binding through a competitive endogenous RNA (ceRNA) network at the post-transcriptional level.Conclusion: The cell-free lncRNAs present in the amniotic fluid have the potential to be released into the maternal circulation, making them promising candidates for investigating epigenetic regulation in VSD.
Basic CSF parameters and MRZ reaction help in differentiating MOG antibody-associated autoimmune disease versus multiple sclerosis
Authors: Vlad Benjamin , Reichen Ina , Neidhart Stephan , Hilty Marc , Lekaditi Dimitra , Heuer Christine , Eisele Amanda , Ziegler Mario , Reindl Markus , Lutterotti Andreas , Regeniter Axel , Jelcic Ilijas 
Published: September 2023

BackgroundMyelin oligodendrocyte glycoprotein antibody-associated autoimmune disease (MOGAD) is a rare monophasic or relapsing inflammatory demyelinating disease of the central nervous system (CNS) and can mimic multiple sclerosis (MS). The variable availability of live cell-based MOG-antibody assays and difficulties in interpreting low-positive antibody titers can complicate diagnosis. Literature on cerebrospinal fluid (CSF) profiles in MOGAD versus MS, one of the most common differential diagnoses, is scarce. We here analyzed the value of basic CSF parameters to i) distinguish different clinical MOGAD manifestations and ii) differentiate MOGAD from MS.MethodsThis is retrospective, single-center analysis of clinical and laboratory data of 30 adult MOGAD patients and 189 adult patients with relapsing-remitting multiple sclerosis. Basic CSF parameters included CSF white cell count (WCC) and differentiation, CSF/serum albumin ratio (QAlb), intrathecal production of immunoglobulins, CSF-restricted oligoclonal bands (OCB) and MRZ reaction, defined as intrathecal production of IgG reactive against at least 2 of the 3 viruses measles (M), rubella (R) and varicella zoster virus (Z).ResultsMOGAD patients with myelitis were more likely to have a pleocytosis, a QAlb elevation and a higher WCC than those with optic neuritis, and, after review and combined analysis of our and published cases, they also showed a higher frequency of intrathecal IgM synthesis. Compared to MS, MOGAD patients had significantly more frequently neutrophils in CSF and WCC&gt;30/µl, QAlb&gt;10×10-3, as well as higher mean QAlb values, but significantly less frequently CSF plasma cells and CSF-restricted OCB. A positive MRZ reaction was present in 35.4% of MS patients but absent in all MOGAD patients. Despite these associations, the only CSF parameters with relevant positive likelihood ratios (PLR) indicating MOGAD were QAlb&gt;10×10-3 (PLR 12.60) and absence of CSF-restricted OCB (PLR 14.32), whereas the only relevant negative likelihood ratio (NLR) was absence of positive MRZ reaction (NLR 0.00).ConclusionBasic CSF parameters vary considerably in different clinical phenotypes of MOGAD, but QAlb&gt;10×10-3 and absence of CSF-restricted OCB are highly useful to differentiate MOGAD from MS. A positive MRZ reaction is confirmed as the strongest CSF rule-out parameter in MOGAD and could be useful to complement the recently proposed diagnostic criteria.
Safety perception in patients with advanced idiopathic Parkinson’s disease – a qualitative study
Authors: Pedrosa Anna J. , van Munster Marlena , Timmermann Lars , Pedrosa David J. 
Published: September 2023

BackgroundA fundamental cornerstone of quality of healthcare is patient safety, which many people with life-limiting illnesses feel is being compromised. Perceptions of impaired safety are associated with the occurrence of psychological distress and healthcare utilization. However, little is known about how people with idiopathic Parkinson’s disease (iPD) perceive their own safety toward the end of life. The aim of our study was therefore to investigate factors that influence the perception of safety of patients with advanced iPD.MethodsWe conducted semi-structured interviews with a purposeful sample of 21 patients with advanced iPD. Participants were recruited at the neurology department of a tertiary care hospital in Germany between August 2021 and June 2022. Data were analyzed using reflexive thematic analysis.ResultsiPD-patients reported relevant impairment of their safety. While most participants expressed safety concerns based on the manifestation of disease, our analysis identified enablers and barriers to establishing safety in patients with advanced iPD, in 10 additional domains: relationship to the disease, informedness, self-perception, utilization of support and care structures, healthcare professionals and structures, treatment, social interaction, social security, spirituality, and environment.ConclusionThis study provides new insights into safety perceptions of patients with advanced iPD, which extend well beyond the physical realm. The findings suggest that clinicians and policy makers should consider a holistic and multidisciplinary approach to assessing and improving patients’ safety taking into account the enablers and barriers identified in this study.
Stunting disparities and its associated factors among preschool children of employed and unemployed mothers in Gondar City: a comparative community-based cross-sectional study
Authors: Tekeba Berhan , Tarekegn Bethelihem Tigabu , Zegeye Alebachew Ferede , Ayele Amare Demsie 
Published: September 2023

IntroductionA stunted child refers to a child who is too short for his/her age, which is the most common cause of morbidity and mortality in children under five in developing countries. Stunting in preschool children is caused by a multitude of socioeconomic and child-related factors, including the employment status of women. This study aimed to compare the prevalence and factors associated with stunting of preschool children among employed and unemployed mothers in Gondar city, Northwest Ethiopia, in 2021.MethodsFrom 30 February to 30 March 2021, a community-based comparative cross-sectional study was conducted among 770 preschool children of employed and unemployed mothers in Gondar city. A structured questionnaire-based interview with anthropometric measurements was used to collect data. A multi-stage sampling technique was used. Data were entered into EPI Info version 7.22 and transferred to Stata version 14 for further analysis. To identify factors associated with stunting, a binary logistic regression analysis was used. The presence of an association was declared based on a p-value of &lt;0.05 and confidence intervals.ResultsA total of 770 preschool children participated in the study. The overall prevalence of stunting among preschool children was 39.7% (95% CI: 36.3–43.2). The prevalence was higher among preschool children of employed mothers (42.6%) (95% CI: 37.6–47.5) than among unemployed mothers (36.7%) (95% CI: 32.0–41.7). Maternal age [AOR = 2.8, 95% CI: 1.26–6.34] and wealth status [AOR = 0.32, 95% CI: 0.18–0.57] were significantly associated with stunting among unemployed mothers, while family size [AOR = 7.19, 95% CI: 2.95–17.5], number of children under the age of five [AOR = 1.92, 95% CI: 1.12–3.29], and having a home servant [AOR = 0.126, 95% CI: 0.06–0.26] were associated with stunting of preschool children among employed mothers.ConclusionStunting is more common in preschool children of employed mothers than in those of unemployed mothers. As a result, interventions such as raising awareness among employed mothers to devote time and care to their children, as well as concerned bodies assisting women with preschool or under-five children, is required. The nutrition intervention should focus on encouraging dietary diversity to combat the existing nutrition-associated stunting in children. Similarly, further research on the difference between employed and unemployed mothers' child stunting status as well as an investigation of extra variables such as the number of hours worked by an employed mother is also recommended to upcoming researchers.
Discrepancies in ICD-9/ICD-10-based codes used to identify three common diseases in cancer patients in real-world settings and their implications for disease classification in breast cancer patients and patients without cancer: a literature review and descriptive study
Authors: Tu Nora , Henderson Mackenzie , Sundararajan Meera , Salas Maribel 
Published: September 2023

BackgroundInternational Classification of Diseases, Ninth/Tenth revisions, clinical modification (ICD-9-CM, ICD-10-CM) are frequently used in the U.S. by health insurers and disease registries, and are often recorded in electronic medical records. Due to their widespread use, ICD-based codes are a valuable source of data for epidemiology studies, but there are challenges related to their accuracy and reliability. This study aims to 1) identify ICD-9/ICD-10-based codes reported in literature/web sources to identify three common diseases in elderly patients with cancer (anemia, hypertension, arthritis), 2) compare codes identified in the literature/web search to SEER-Medicare’s 27 CCW Chronic Conditions Algorithm (“gold-standard”) to determine their discordance, and 3) determine sensitivity of the literature/web search codes compared to the gold standard.MethodsA literature search was performed (Embase, Medline) to find sources reporting ICD codes for at least one disease of interest. Articles were screened in two levels (title/abstract; full text). Analysis was performed in SAS Version 9.4.ResultsOf 106 references identified, 29 were included that reported 884 codes (155 anemia, 80 hypertension, 649 arthritis). Overall discordance between the gold standard and literature/web search code list was 32.9% (22.2% for ICD-9; 35.7% for ICD-10). The gold standard contained codes not found in literature/web sources, including codes for hypertensive retinopathy/encephalopathy, Page Kidney, spondylosis/spondylitis, juvenile arthritis, thalassemia, sickle cell disorder, autoimmune anemias, and erythroblastopenia. Among a cohort of non-cancer patients (N=684,376), the gold standard identified an additional 129 patients with anemia, 33,683 with arthritis, and 510 with hypertension compared to the literature/web search. Among a cohort of breast cancer patients (N=303,103), the gold standard identified an additional 59 patients with anemia, 10,993 with arthritis, and 163 with hypertension. Sensitivity of the literature/web search code list was 91.38-99.96% for non-cancer patients, and 93.01-99.96% for breast cancer patients.ConclusionDiscrepancies in codes used to identify three common diseases resulted in variable differences in disease classification. In all cases, the gold standard captured patients missed using the literature/web search codes. Researchers should use standardized, validated coding algorithms when available to increase consistency in research and reduce risk of misclassification, which can significantly alter the findings of a study.
Transcatheter arterial chemoembolization combined with apatinib and camrelizumab for unresectable advanced gastric or gastroesophageal junction cancer: a single-arm, single-center, retrospective study
Authors: Wu Kunpeng , Li Yahua , Li Zongming , Zhou Zihe , Ge Xiaoyong , Li Yifan , Han Xinwei , Chen Peng , Ren Kewei 
Published: September 2023

PurposeThis study aims to investigate the efficacy and safety of transcatheter arterial chemoembolization (TACE) combined with Apatinib and Camrelizumab for treating unresectable advanced gastric or gastroesophageal junction (G/GEJ) cancer.Material and methodsIn this study, data of patients with unresectable advanced G/GEJ cancer who received TACE combined with Apatinib and Camrelizumab from August 2018 to December 2021 was evaluated. After TACE, patients were given intravenous Camrelizumab 200mg every three weeks and oral apatinib 250mg/day for treatment. The primary endpoint was overall survival (OS), and the secondary endpoints were objective response rate (ORR), disease control rate (DCR), and adverse events (AEs).ResultsA total of 49 patients were enrolled in this study. The median follow-up time was 14.0 months, and the median OS was 20.0 months (95% CI = 13.6-26.4). Two patients (4.08%) achieved complete remission, 28 patients (57.14%) achieved partial remission, 18 patients (36.73%) had stable disease, and 1 patient (2.04%) had disease progression. The ORR was 61.22%, and the DCR was 97.96%. Multivariate Cox regression analysis indicated that age (HR 4.74, 95% CI = 1.674-13.440, P=0.003) and multiple distant metastases (HR 20.916, 95% CI = 4.094-106.808, P = 0.001) were independent risk factors for OS. Most AEs were classified as grade 1-2, the most common being RCCEP (69.39%). There were 5 cases of grade 3-4 adverse events (10.20%). No patients discontinued or reduced the treatment dose due to AEs, and all patients received symptomatic treatment.ConclusionTACE combined with Apatinib and Camrelizumab is a safe and effective therapeutic option for patients with unresectable advanced G/GEJ cancer, which can significantly improve the median OS and ORR of patients. And the adverse events (AEs) are tolerable and manageable.
Development and validation of novel immune-inflammation-based clinical predictive nomograms in HER2-negative advanced gastric cancer
Authors: Yang Yan , Shao Yu , Wang Junjun , Cheng Qianqian , Yang Hanqi , Li Yulong , Liu Jing , Zhou Yangyang , Zhou Zhengguang , Wang Mingxi , Ji Baoan , Yao Jinghao 
Published: September 2023

PurposeTo explore the predictive value of multiple immune-inflammatory biomarkers including serum VEGFA and systemic immune-inflammation index (SII) in HER2-negative advanced gastric cancer (AGC) and establish nomograms for predicting the first-line chemotherapeutic efficacy, progression-free survival (PFS) and overall survival (OS) of patients with this fatal disease.MethodsFrom November 2017 to April 2022, 102 and 34 patients with a diagnosis of HER2-negative AGC at the First Affiliated Hospital of Bengbu Medical College were enrolled as development and validation cohorts, respectively. Univariate and multivariate analyses were performed to evaluate the clinical value of the candidate indicators. The variables were screened using LASSO regression analysis. Predictive models were developed using significant predictors and are displayed as nomograms.ResultsBaseline VEGFA expression was significantly higher in HER2-negative AGC patients than in nonneoplastic patients and was associated with malignant serous effusion and therapeutic efficacy (all p&lt;0.001). Multivariate analysis indicated that VEGFA was an independent predictor for first-line therapeutic efficacy and PFS (both p&lt;0.01) and SII was an independent predictor for first-line PFS and OS (both p&lt;0.05) in HER2-negative AGC patients. The therapeutic efficacy model had an R2 of 0.37, a Brier score of 0.15, and a Harrell’s C-index of 0.82 in the development cohort and 0.90 in the validation cohort. The decision curve analysis indicated that the model added more net benefits than VEGFA assessment alone. The PFS/OS models had Harrell’s C-indexes of 0.71/0.69 in the development cohort and 0.71/0.62 in the validation cohort.ConclusionThe established nomograms integrating serum VEGFA/SII and commonly available baseline characteristics provided satisfactory performance in predicting the therapeutic efficacy and prognosis of HER2-negative AGC patients.