Article
Cardiac & Cardiovascular Systems
Paul R. J. Ames, Giovanna D'Andrea, Vincenzo Marottoli, Alessia Arcaro, Luigi Iannaccone, Fabrizio Gentile, Maurizio Maraglione
Summary: This study aimed to compare the age at first ischemic stroke (IS) in juvenile patients and evaluated the rs1801133 polymorphism of the MTHFR gene, as well as to identify predictors of age at IS and the type of cerebral vessel involvement. The study found that patients with the MTHFR TT genotype developed their first occlusion on average 5 years earlier compared to those with the CC genotype. Smoking contributed to the prematurity of IS and affected plasma HC and coagulation, while plasma HC predicted IS secondary to SVD.
JOURNAL OF THROMBOSIS AND THROMBOLYSIS
(2022)
Article
Dermatology
Sang-Hoon Lee, Yoonsuk Lee, Eung Ho Choi
Summary: This case report presents a refractory case of Livedoid vasculopathy (LV) accompanied by MTHFR gene polymorphism, which was successfully treated with hyperbaric oxygen therapy (HBOT). The effectiveness of HBOT in treating refractory LV is highlighted.
ANNALS OF DERMATOLOGY
(2023)
Article
Genetics & Heredity
Xiaoyan Hao, Cong Ma, Tianyuan Xiang, Lei Ou, Qiang Zeng
Summary: The study revealed that the T-allele of the C677T variant of methylene tetrahydrofolate reductase is a risk factor for non-alcoholic fatty liver disease among the Chinese population. Certain food groups such as milk and beans are associated with a lower risk, while meat is associated with a higher risk.
FRONTIERS IN GENETICS
(2021)
Article
Immunology
Xiao-Wen Huang, Huan-Xin Zheng, Meng-Lei Wang, Wan-Mei He, Mei-Xin Feng, Kang Zeng, Li Li
Summary: This retrospective study describes the successful use of the anti-TNF-alpha agent adalimumab in three cases of refractory livedoid vasculopathy and provides clinical evidence of its ability to improve skin lesions and relieve pain.
Article
Genetics & Heredity
Hua Lin, Changxi Liao, Rujing Zhang
Summary: The objective of this study is to analyze the distribution characteristics of MTHFR C677T polymorphism in Chinese females and provide information for reducing birth defects and formulating public health policies. The study collected data from literature published in the last 6 years on MTHFR C677T polymorphism and methylene tetrahydrofolate reductase, and analyzed the distribution of MTHFR C677T alleles in the female population in each region of China. The results showed a significant north-south difference in the distribution of the TT genotype and T allele of the MTHFR C677T, which is consistent with the geographical distribution of pregnancy complications.
FRONTIERS IN GENETICS
(2023)
Review
Cell Biology
Bianka Hoxha, Malvina Hoxha, Elisa Domi, Jacopo Gervasoni, Silvia Persichilli, Visar Malaj, Bruno Zappacosta
Summary: Folic acid plays a potential role in autism spectrum disorders, with studies indicating its benefits and mechanisms, though conflicting results exist. Further large-scale, long-term clinical trials are needed to better evaluate the role of folic acid in autism spectrum disorder risk.
Article
Immunology
Yuyang Han, Ping Tu
Summary: This study retrospectively observed eight patients with refractory livedoid vasculopathy who received treatment with baricitinib. The results showed that baricitinib treatment significantly relieved the signs and symptoms of livedoid vasculopathy and was well tolerated.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Pediatrics
Cristian Irela Aranda-Sanchez, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Idalid Cuero-Quezada, Jennifer Santana-Hernandez, Alejandra Baldomero-Lopez, Yaneris M. Romero-Bolano, Christian Pena-Padilla, Jorge Roman Corona-Rivera
Summary: The study did not find an association between MTHFR gene variants C677T and A1298C and neural tube defects in infants, but suggested a potential interaction with other factors, particularly folate intake.
CONGENITAL ANOMALIES
(2021)
Review
Dermatology
Yimeng Gao, Hongzhong Jin
Summary: This study retrospectively analyzed clinical data of Chinese LV patients and investigated peripheral neuropathy in these patients. The results showed that 12.73% of LV patients had peripheral neuropathy, characterized by numbness and often refractory to treatment. The symptoms progressed asymmetrically in the distal extremities, and long-term follow-up was required for LV patients with peripheral neuropathy.
INTERNATIONAL WOUND JOURNAL
(2023)
Article
Medicine, General & Internal
Sylene C. R. Carvalho, Luydson R. S. Vasconcelos, Leonardo da Fonseca, Rodrigo F. Carmo, Michele T. Tomitao, Dayse C. B. L. Aroucha, Leila M. M. B. Pereira, Jose Tadeu Stefano, Ulysses Ribeiro-Junior, Claudia P. Oliveira, Flair J. Carrilho
Summary: The study found that MTHFR and VEGF gene polymorphisms are associated with disease development and tumor type in HCV-related HCC patients. The C alleles of MTHFR (rs1801131) and VEGF (rs2010963) may have a protective effect against the development of multinodular HCC, while the T allele of MTHFR (rs1801133) may increase the risk of multinodular presentation.
Article
Pharmacology & Pharmacy
L-L Huang, J-R Tong, Y. Huang, Y-N Wei, H-F Chen, Y. Chen, J-Y Su, L. Deng
Summary: The present study aimed to analyze the correlation between pregnancy outcomes and methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism, and provide evidence for clinical improvement of adverse pregnancy outcomes. A total of 1,995 pregnant women were selected as study subjects, and underwent MTHFR gene C677T polymorphism detection. The TT type gene mutation at the C677T site of MTHFR gene is closely related to conditions that contribute to a decrease in the number of full-term births and increase the risk of adverse pregnancy outcomes, including GDM, HDP, spontaneous abortion, and fetal abnormalities.
EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES
(2023)
Article
Dermatology
Chenjing Zhao, Ke Jing, Suying Feng
Summary: This retrospective study analyzed the clinical features of 46 Chinese patients with livedoid vasculopathy (LV), and found that extensive livedo reticularis, pigmented purpuric dermatosis-like lesions, and numbness were common symptoms in these patients.
INTERNATIONAL JOURNAL OF DERMATOLOGY
(2023)
Article
Oncology
Caitlin Phillips-Chavez, Jermaine Coward, Michael Watson, Janet Schloss
Summary: Ovarian cancer has a low 5-year survival rate of 43%, with platinum resistance being one of its main mortality drivers. This study revealed associations between nutrient intakes and MTHFR genotype in affecting platinum sensitivity, emphasizing the importance of diet on treatment response in EOC.
Article
Biotechnology & Applied Microbiology
Christian Oeppinger, Florian Kremp, Volker Mueller
Summary: This study focuses on the structure and electron donor of methylene-tetrahydrofolate reductase, providing evidence that reduced ferredoxin cannot be the physiological electron donor under in vivo conditions. The study also discusses the possible reasons for the discrepancy between in vitro and in vivo functions, and presents a model for the incorporation of the MetVF-type MTHFR into metabolism to achieve a positive ATP yield.
INTERNATIONAL MICROBIOLOGY
(2022)
Review
Dermatology
Chuda Rujitharanawong, Leena Chularojanamontri, Suphattra Trakanwittayarak, Sumruay Pinkaew, Sasipha Nuttawong
Summary: LV is a rare vascular disorder with limited data on Thai population. Treatment mainly involves anti-inflammatory drugs, antiplatelet drugs, and immunosuppressants, with promising results from combination therapy with PUVA or anticoagulants. Kaplan-Meier analysis showed disease improvement in 38.5-57.9% of patients at 1-3 years.
DERMATOLOGIC THERAPY
(2021)