Yersiniosis is one of the "other infectious diarrhea" of the notifiable infectious diseases and also an important food-borne disease. However, it lacked the basis or standard for diagnosis. The Chinese Preventive Medicine Association coordinated experienced researchers from National Institute for Communicable Disease Control and Prevention, China CDC and other institutes to produce the group standard entitled "Diagnosis of Yersiniosis" (T/CPMA 005-2019). Based on the principle of "legality, scientificity, advancement, and feasibility" , the standard gives a clear definition for Yerisiniosis, stipulates diagnosis basis, principles and main differential diagnosis and provides two informative appendixes for epidemiological and clinical characteristics and a normative appendix for laboratory detection. The standard provides accurate basis and methods of Yersiniosis diagnosis for hospitals and CDCs at all levels in China. It will solve the problems that Yersiniosis cannot be clearly diagnosed for clinical cases and in the outbreaks.
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http://dx.doi.org/10.3760/cma.j.issn.0254-6450.2019.09.005 | DOI Listing |
Genome Med
January 2025
Laboratory of Cytogenetics and Genome Research, Centre for Human Genetics, KU Leuven, Leuven, 3000, Belgium.
Background: A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episignatures inform on the underlying pathogenic mechanisms and can be used to assess the pathogenicity of genomic variants as well as confirm clinical diagnoses. Currently, the detection of these episignature requires the use of indirect methylation profiling methodologies.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, Hanzeplein 1, Postbus, Groningen, 30001 - 9700 RB, the Netherlands.
Background: Glycogen storage disease (GSD) Ia is an ultra-rare inherited disorder of carbohydrate metabolism. Patients often present in the first months of life with fasting hypoketotic hypoglycemia and hepatomegaly. The diagnosis of GSD Ia relies on a combination of different biomarkers, mostly routine clinical chemical markers and subsequent genetic confirmation.
View Article and Find Full Text PDFBMC Pediatr
January 2025
Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital, 123 Tianfei Alley, Nanjing, 210004, People's Republic of China.
Background: Chromosomal inversions are underappreciated causes of rare diseases given their detection, resolution, and clinical interpretation remain challenging. Heterozygous mutations in the MEIS2 gene cause an autosomal dominant syndrome characterized by intellectual disability, cleft palate, congenital heart defect, and facial dysmorphism at variable severity and penetrance.
Case Presentation: Herein, we report a Chinese girl with intellectual disability, developmental delay, and congenital heart defect, in whom G-banded karyotype analysis identified a de novo paracentric inversion 46,XX, inv(15)(q15q26.
Sci Rep
January 2025
Department of Urology, The First Affiliated Hospital of Wannan Medical College, Yijishan Hospital, Wuhu, 241001, Anhui, People's Republic of China.
To create a diagnostic tool before biopsy for patients with prostate-specific antigen (PSA) levels < 20 ng/ml to minimize prostate biopsy-related discomfort and risks. Data from 655 patients who underwent transperineal prostate biopsy at the First Affiliated Hospital of Wannan Medical College from July 2021 to January 2023 were collected and analyzed. After applying the Synthetic Minority Over-sampling TEchnique class balancing on the training set, multiple machine learning models were constructed by using the Least Absolute Shrinkage and Selection Operator (LASSO) feature selection to identify the significant variables.
View Article and Find Full Text PDFHum Brain Mapp
January 2025
Department of Psychiatry, University of Wisconsin-Madison, Madison, WI, USA.
Analysis of resting state fMRI (rs-fMRI) typically excludes images substantially degraded by subject motion. However, data quality, including degree of motion, relates to a broad set of participant characteristics, particularly in pediatric neuroimaging. Consequently, when planning quality control (QC) procedures researchers must balance data quality concerns against the possibility of biasing results by eliminating data.
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