CSDL Bài trích Báo - Tạp chí
chủ đề: Pediatrics
1 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.
2 Frequency of oncologic emergencies in children with newly diagnosed cancer at the Vietnam National Children Hospital / Bui Ngoc Lan, Nguyen Thi Tinh, Vu Van An, Nguyen Thu Tuyet, Nguyen Ngoc Khoi, Anurag K. Agrawal , Hermiston L. Michelle, Le Thi Thuy Dung // .- 2025 .- Tập 190 - Số 5E16 .- P. 69-77 .- 610
Oncologic emergencies are life-threatening complications that require urgent recognition and management in pediatric cancer patients. This study aimed to evaluate the pattern of oncologic emergencies as well as its frequency in newly diagnosed childhood cancers at Vietnam National Children’s Hospital (VNCH). From July 2019 to June 2020, 392 children aged 0 - 15 years were newly diagnosed with cancer.
3 Preliminary evaluation of the effectiveness of autologous bone marrow stem cell therapy in supporting the treatment of biliary atresia / Nguyen Pham Anh Hoa, Hoang Tuan Khang , Pham Duy Hien, Nguyen Thanh Binh, Dang Thi Ha, Bach Thi Ly Na , Pham Thi Hai Yen, Tran Duc Tam, Phan Hong Long, Vu Manh Hoan, Nguyen Duc Hanh, Nguyen Duc Thanh, Tran Thi Thu Huyen // .- 2025 .- Tập 190 - Số 6 .- P. 120-129 .- 610
Biliary atresia (BA) is a rare hepatobiliary disorder. Stem cell therapy is expected to serve as a supportive treatment to slow fibrosis progression. This study aimed to assess the therapeutic efficacy and the safety of the Kasai procedure combined with autologous bone marrow stem cell (ABMSC) infusion. From May 2021 to December 2024, 82 pediatric BA patientswho underwent the combined treatment at Vietnam National Children’s Hospital were enrolled. The mean age at surgery was 76.8 ± 12.6 days. No severe complication occurred during stem cell harvesting or follow-up time frame. T
4 IgG4-related disease: A systematic review of a rare pediatric condition / Mai Thanh Cong, Hoang Mai Phuong, Dao Khanh Ly // .- 2024 .- Volume 184 E15 - N 11 .- P. 24-41 .- 610
Immunoglobulin G4 related disease (IgG4-RD) is an immune-mediated fibroinflammatory disorder, marked by tumor-like mass-forming lesions. IgG4-RD is a recently recognized condition and has a few conducted research on the pediatric population. This study aims to provide some insights into the epidemiology, histological findings, diagnosis, and treatment of this condition in children. A systematic literature search was performed on Embase, PubMed, and Web-of-science for case reports and case series of IgG4-RD in children published between 1/2015 and 12/2023. 58 case reports and case series including 62 cases of IgG4-RD in children were identified. The mean age was 12 ± 4.4 years old, of which 54.8% were male. The orbit and central nervous system were two organs predominantly affected. Multi-organ involvement was reported in 14 cases (22.6%). Of 53 patients with serum IgG4 concentration reported, 60.4% of them had elevated serum IgG4 level. 21 patients (33.8%) had fulfilled the definitive diagnosis of the 2020 revised comprehensive diagnostic criteria. Prednisone was the first choice of treatment in 81.8% of the cases. 77.6% of the patients were treated with steroid-sparing DMARDs.
5 Resistome and plasmidome in an extensively drug-resistant extra-intestinal pathogenic Escherichia coli isolated from a one-year-old child with respiratory distress syndrome / Nguyen Van Anh, Nguyen Thuy Duong, Tran Thi Thanh Tam, Nguyen Quang Huy // .- 2023 .- Vol 21 - Number 2 .- P. 305-316 .- 618.92 22
This study aimed at identifying resistome and plasmidomes carrying antibiotic-resistant genes (ARGs) in an extensively drug-resistant extra-intestinal pathogenic E. coli strain XP817 isolated from a one-year-old child with respiratory distress syndrome. Whole genome analysis of strain XP817 revealed 68 ARGs documented in the Comprehensive Antibiotic Resistance Database (CARD). In conclusion, our study underlines the crucial role of the ARG dissemination via horizontal gene transfer in E. coli as well as in the Enterobacteriaceae family.