This is a case report of a female newborn presented with skin necrotic lesions 1 week after delivery. Laboratory investigations revealed severe homozygous protein C deficiency associated with homozygous factor V Leiden, although her pregnancy and perinatal periods were otherwise uneventful, with negative family history of thrombotic or bleeding disorders. Patient stabilization was established by supportive measures and long-term administration of fresh frozen plasma and warfarin.
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http://dx.doi.org/10.1097/MBC.0b013e328364194b | DOI Listing |
Genetics
January 2025
Donald Danforth Plant Science Center, St. Louis, MO 63132, USA.
Forward genetic screens of mutant populations are fundamental for functional genomics studies. However, isolating independent mutant alleles to molecularly identify causal genes is challenging in species recalcitrant to genetic manipulation. Here, we demonstrate that classic seed EMS mutagenesis coupled with genome sequencing can overcome this limitation in sorghum.
View Article and Find Full Text PDFMonaldi Arch Chest Dis
January 2025
Department of Respiratory Medicine, N.K.P. Salve Institute of Medical Sciences and Research Center, Lata Mangeshkar Hospital, Nagpur, Maharashtra.
Asthma is a heterogeneous disease characterized by chronic airway inflammation. It is defined by the history of respiratory symptoms such as wheeze, shortness of breath, chest tightness, and cough that vary over time and intensity, together with variable expiratory airflow limitation. A personal history or a family history of allergy is the factor most strongly associated with the development of asthma.
View Article and Find Full Text PDFIntroduction: Previous studies identified genetic links between the TCF7L2 C/T variant rs7903146, type 2 diabetes (T2D), and obesity. We wished to deepen our understanding of how specific diets interact with this variant to affect blood metabolites, an aspect not previously investigated. Hence, we conducted a controlled study where individuals with different genotypes followed a Mediterranean (Med) or low-fat (LF) diet for one week.
View Article and Find Full Text PDFBMC Med Genomics
January 2025
Department of Cardiovascular Surgery, Gansu Provincial Hospital, No. 204, Donggang West Road, Lanzhou City, Gansu Province, 730000, China.
Background: We did this study to better clarify the correlations of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1)-G1958A (rs2236225) gene polymorphism with the risk of congenital heart diseases (CHD) and its subgroups.
Methods: Relevant articles were searched in PubMed, Web of Science, Cochrane Library, Embase, CNKI, VIP database and Wanfang DATA until October 2023. We will use odds ratios (ORs) and 95% confidence intervals (CIs) to examine the potential associations of MTHFD1- G1958A gene polymorphism with CHD and its subgroups.
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