CSDL Bài trích Báo - Tạp chí

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11 Nhận xét giá trị của ARRAY-CGH và lập công thức nhiễm sắc thể trong chẩn đoán trước sinh bất thường cấu trúc không cân bằng / Đinh Thuý Linh, Phạm Thế Vương, Mai Trọng Hưng // .- 2025 .- Tập 189 - Số 4 .- Tr. 54-63 .- 610

Bất thường cấu trúc không cân bằng nhiễm sắc thể là một trong các nguyên nhân di truyền gây dị tật bẩm sinh. Chẩn đoán trước sinh các bất thường này giúp tiên lượng chính xác tình trạng thai, tư vấn trước sinh phù hợp. Các bất thường nhiễm sắc thể có thể được phát hiện bằng kĩ thuật lập công thức nhiễm sắc thể hoặc array CGH. Nghiên cứu nhằm mô tả các bất thường cấu trúc lớn nhiễm sắc thể không cân bằng của thai và nhận xét giá trị của kĩ thuật lập công thức nhiễm sắc thể và array CGH trong phát hiện bất thường này.

12 Đa hình đơn nucleotide rs2856718 của gen HLA-DQ trên bệnh nhân nhiễm virus viêm gan C / Nguyễn Trọng Tuệ, Nguyễn Thu Thuý, Hồ Cẩm Tú // .- 2025 .- Tập 189 - Số 4 .- Tr. 46-53 .- 610

Đa hình gen kháng nguyên bạch cầu người (HLA) lớp II đóng vai trò quan trọng trong đáp ứng miễn dịch kháng virus và có mối tương quan với nguy cơ nhiễm virus viêm gan C (HCV). Nghiên cứu này nhằm đánh giá mối liên quan giữa đa hình đơn nucleotide (SNP) rs2856718 của gen HLA-DQ với nguy cơ nhiễm HCV và một số đặc điểm lâm sàng của bệnh nhân viêm gan C. Mẫu máu từ 101 bệnh nhân viêm gan C và 127 người khỏe mạnh (nhóm đối chứng) đã được thu thập và xác định kiểu gen rs2856718 bằng phương pháp TaqMan Realtime-PCR.

13 A rare homozygous variant of the NKX6-2 gene in association with profound intellectual disability / Hoang Thi Ngoc Lan, Nguyen Phuong Mai, Doan Thi Kim Phuong, Hoang Thu Lan, Nguyen Thi Minh Ngoc, Luong Thi Lan Anh // .- 2025 .- Tập 190 - Số 5E16 .- P. 1-11 .- 610

This is a study of five children with profound intellectual disability, spastic quadriplegia, and nystagmus in two distinct families. Whole exome sequencing (WES) identified a homozygous c.234dup variant in the NKX6-2 gene relating to Spastic ataxia 8 with hypomyelinating leukodystrophy - the underlying cause of severe neurodevelopmental impairment in both families. The study contributed additional data on NKX6-2 variants in Vietnamese patients with intellectual disabilities and explored the genotype-phenotype correlation. Furthermore, it emphasized the importance of early genetic testing in children presenting with developmental delay, spastic quadriplegia, and unexplained nystagmus, especially when brain MRI findings suggested hypomyelinating leukodystrophy. This approach will provide a critical basis for diagnosis, patient management, and genetic counseling.

14 Efficacy and safety of R-GEMOX in relapsed or refractory diffuse large B-cell lymphoma: A single-center experience in Vietnam / Dinh Thi Hai Duyen, Tran Thi Huyen, Nguyen Thi Mai Lan // .- 2025 .- Tập 190 - 5E16 .- P. 12-19 .- 610

Diffuse large B-cell lymphoma (DLBCL) is the most common histologic subtype of non-Hodgkin lymphoma (NHL), yet a substantial proportion of patients experience relapse or refractory disease following initial therapy. Among various salvage regimens, R-GEMOX - comprising rituximab, gemcitabine, and oxaliplatin - has shown promising efficacy and a tolerable safety profile. This retrospective cohort study aimed to evaluate the treatment outcomes and adverse events associated with R-GEMOX in patients with relapsed or refractory CD20-positive DLBCL treated at Hanoi Oncology Hospital. A total of 39 patients who received at least four cycles of R-GEMOX between January 2018 and May 2024 were included. Treatment response was assessed using the Lugano 2014 criteria, and toxicities were graded per CTCAE v4.0.

15 Evaluating the elimination of iCasp9-IL15 CAR-T cells using photosensitizers AP20187 in vitro / Can Van Mao, Le Duy Cuong // .- 2025 .- Tập 190 - Số 5E16 .- Tr. 20-25 .- 610

This study was conducted to evaluate the ability to eliminate iCasp9-IL15 Chimeric Antigen Receptor-T (CAR-T) cells using the photosensitizers AP20187 in vitro. Peripheral blood mononuclear cells (PBMC) were activated with Dynabeads Human T-Activator CD3/CD28 and IL-2 to optimize the concentration of the antibiotic blasticidin for screening iCasp9-IL15 CAR-T cells. iCasp9-IL15 CAR-T cells after proliferation with 1D2 artificial antigen-presenting cells, were screened using blasticidin. Subsequently, the iCasp9 suicide gene of these cells was activated at various concentrations of AP20187 photosensitizer.

16 Identification of variant of insulin receptor gene in resistant diabetes / Nguyen Ngoc Khanh, Can Thi Bich Ngoc // .- 2025 .- Tập 190 - Số 5E16 .- Tr. 26-32 .- 610

Insulin resistance is defined as a reduced biological response of target tissues to normal insulin levels and is a major mechanism leading to type 2 diabetes, particularly in obese individuals. Beyond obesity, other causes include medications (e.g., glucocorticoids, antiretrovirals, oral contraceptives), stress, pregnancy, dyslipidemia, insulin receptor autoantibodies (Type B insulin resistance), and genetic defects. Among genetic causes, mutations in the insulin receptor (INSR) gene can lead to severe insulin resistance known as Type A insulin resistance. This rare inherited disorder belongs to a spectrum of monogenic insulin resistance syndromes, including Donohue and Rabson-Mendenhall syndromes.

17 Study of associated factors with risk of fall in frail older patients / Nguyen Ngoc Tam, Nguyen Trung Anh // .- 2025 .- Tập 190 - Số 5E16 .- P. 33-40 .- 610

The frailty syndrome and fall risk go hand in hand in the ageing process, significantly affecting the quality of life in elderly patients. The purpose of this study was to explore factors related to fall risk in older patients with frailty syndrome. A cross-sectional study of older frail patients was conducted, at the National Geriatric Hospital. All patients were diagnosed as having frailty by using Freid’s criteria.

18 Neoadjuvant chemotherapy with FLOT for locally advanced gastric cancer: A single-center experience from Vietnam / Dinh Thi Hai Duyen, Vu Van Tien, Nguyen Thi Mai Lan // .- 2025 .- Tập 190 - Số 5E16 .- P. 41-51 .- 610

Neoadjuvant chemotherapy (NACT) with the FLOT regimen (5-Fluorouracil, Leucovorin, Oxaliplatin, Docetaxel) has shown promising results for locally advanced gastric cancer (LAGC). This study aimed to evaluate the initial treatment outcomes of LAGC patients receiving neoadjuvant FLOT at Hanoi Oncology Hospital. A descriptive cohort study was conducted on 35 patients with LAGC (cT3-4 and/or cN2-3, M0) treated with neoadjuvant FLOT between October 2021 and February 2024. Clinical data, radiological and histopathological responses, surgical outcomes, and adverse events were retrospectively and prospectively collected and analyzed.

19 Outcomes of incisional hernia using laparoscopic sutured abdominal wall reconstruction / Tran Ngoc Dung, Nguyen Duc Phan, Nguyen Ngoc Anh, Luu Quang Dung, Nguyen Thi Thu Vinh, Nguyen Tu Anh, Nguyen Quoc Van, Hoang Ngoc Ha, Truong Van Cuong // .- 2025 .- Tập 190 - Số 5E16 .- Tr. 52-61 .- 610

Incisional hernia (IH) is a common condition after major abdominal surgeries. To date, surgery particularly laparoscopic techniques is the primary treatment, offering several advantages. This study aims to describe the surgical technique and evaluate outcomes of laparoscopic sutured abdominal wall reconstruction for IH at Hanoi Medical University Hospital. A retrospective descriptive study was conducted on 11 patients treated from 2019 to 2024.

20 Phenotypic characteristics and outcomes of late-onset urea cycle disorders / Nguyen Ngoc Khanh, Can Thi Bich Ngoc // .- 2025 .- Tập 190 - Số 5E166 .- P. 62-68 .- 610

Urea cycle disorders (UCD) are characterized by elevated blood ammonia levels due to deficiencies in enzymes essential for urea metabolism. Early diagnosis and treatment reduce mortality and sequelae. Objective: To describe the phenotypic characteristics and treatment outcomes of late-onset UCD from 2010 to September 2021.