The levels of aberration of chromosomes in peripheral blood leucocytes were investigated in patients with chronic and lupoid glomerulonephritis considering the clinical variants and morphological forms of the disease. In chronic glomerulonephritis high levels of chromosome aberration were found in patients with nephrotic type; in lupoid glomerulonephritis the frequency of chromosome aberration was higher in patients with active glomerulonephritis. Chronic renal failure did not essentially change the level of chromosome aberration both in chronic and lupoid glomerulonephritis. In different morphological forms of glomerulonephritis the frequency of chromosome aberration was determined by the clinical variant of the disease.
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Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Department of Obstetrics and Gynecology, the Affiliated Hospital of Nantong University, Nantong, Jiangsu 226001, China.
Objective: To explore the genetic characteristics of a Chinese pedigree with rare mosaic 11q partial duplication and its pathogenetic mechanisms.
Methods: A pedigree which underwent prenatal diagnosis at Wenzhou Central Hospital between September 25, 2015 and November 30, 2023 was selected for the study. Clinical data were collected from the pedigree.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
General Hospital of Ningxia Medical University, Yinchuan, Ningxia 750004, China.
Objective: To explore the clinical phenotype, pregnancy outcome and follow-up of fetuses with 15q11.2BP1-BP2 microdeletions in order to provide a basis for prenatal and reproductive consultation.
Methods: From March 2019 to December 2023, 20 fetuses who were diagnosed with 15q11.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Center of Prenatal Diagnosis, Lianyungang Maternal and Child Health Care Hospital, Lianyungang, Jiangsu 222000, China.
Objective: To explore the clinical significance of trisomy 7 signaled by non-invasive prenatal testing (NIPT).
Methods: Pregnant women with high risk for trisomy 7 by NIPT from January 2017 to December 2023 were selected as the study subjects, and the results of prenatal diagnosis and follow-up were analyzed. Literature related to pregnant women with a high risk for trisomy 7 by NIPT from January 2016 to July 2024 was retrieved from China Biomedical Literature Database, Wanfang Database, China National Knowledge Infrastructure and PubMed database.
Korean J Intern Med
January 2025
Department of Hematology/Oncology, Kyungpook National University Hospital, School of Medicine, Kyungpook National University, Daegu, Korea.
Background/aims: To determine the effectiveness of tyrosine kinase inhibitor (TKI) plus reduced-intensity therapy in adult patients with newly diagnosed Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph-positive ALL), this retrospective study compared treatment outcomes and induction mortality according to backbone regimen intensity.
Methods: The data of 132 patients diagnosed with Ph-positive ALL were retrospectively collected from five centers. Patients received imatinib plus intensive chemotherapy (modified VPD, KALLA1407, or hyper-CVAD) or reduced-intensity chemotherapy (EWALL) for curative purposes.
Cir Cir
January 2025
Department of Genetics, Kocaeli University, Faculty of Medicine, Kocaeli, Turkey.
Objective: Understanding the relationship between genetic structure and the molecular changes involved in endometrial cancer (EC) provides an opportunity to personalize treatments and incorporate targeted therapies.
Method: We compared cytogenetic and molecular features observed in tumoral and adjacent healthy tissue endometrium samples in EC patients.
Results: Non-clonal chromosome aberrations (NCCAs) frequently in patients with EC, especially in 10,15,17,22, X chromosomes and were monitored in 73.
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