Search

Background: KBG syndrome (KBGS, OMIM: 148050) is a rare genetic disorder characterized by macrodontia, short stature, skeletal abnormalities, and neurological manifestations. The objective of this study is to investigate a case of KBG syndrome caused by a novel frameshift mutation in ANKRD11. Methods and results: We present the case of an 18-year-old Chinese male exhibiting characteristic features including a triangular face, micrognathia, hypertelorism, macrodontia, bushy eyebrows, prominent ears, short stature, low hairline, delayed cognitive development, and scoliosis. Whole exome sequencing identified a novel frameshift variant in the ANKRD11 gene which ultimately led to the diagnosis of KBG syndrome. Conclusion: In this study we have identified a previously unreported frameshift variant (NM_013275.6:c.2589dup) in ANKRD11 that causes KBG syndrome. This finding expands both the molecular and clinical spectrum of this rare genetic disease. [ABSTRACT FROM AUTHOR]

Preeclampsia (PE) is a prevalent and multifaceted pregnancy disorder, characterized by high blood pressure, edema, proteinuria, and systemic organ dysfunction. It remains one of the leading causes of pregnancy complications, yet its exact origins and pathophysiological mechanisms are not fully understood. Currently, the only definitive treatment is delivery, often requiring preterm termination of pregnancy, which increases neonatal and maternal morbidity and mortality rates, particularly in severe cases. This highlights the urgent need for further research to elucidate its underlying mechanisms and develop targeted interventions. PE is thought to result from a combination of factors, including inflammatory cytokines, trophoblast dysfunction, and environmental influences, which may trigger epigenetic changes, particularly DNA methylation. The placenta, a vital organ for fetal and maternal exchange, plays a central role in the onset of PE. Increasing evidence suggests a strong association between DNA methylation, placental function, and the development of PE. This review focuses on the impact of DNA methylation on placental development and its contribution to PE pathophysiology. It aims to clarify the epigenetic processes essential for normal placental development and explore potential epigenetic biomarkers and therapeutic targets for PE. Such insights could lead to the development of novel preventive and therapeutic strategies for this condition. [ABSTRACT FROM AUTHOR]

Objective: To investigate the value of serum levels of IgG4 and CA19-9, and autoantibodies in the diagnosis of IgG4-related sclerosing cholangitis (IgG4-SC). Methods: We detected the serum IgG4 and CA19-9 of 45 IgG4-SC patients, 173 non-IgG4-SC patients and 48 healthy controls by immunoassay and chemiluminescence, respectively, with antinuclear antibody (ANA), anti-neutrophil antibody (ANCA), anti-smooth muscle antibody (SMA) and anti-mitochondrial antibody (AMA) level detected by indirect immunofluorescence. Then analyze the detection results. Results: (1) The positive rates of ANA, ANCA, SMA and AMA in patients with IgG4-SC were 40%, 6.67%, 0 and 2.22%. Among them, the positive rate of ANA was significantly higher than that of the healthy control group (p <.01), and the positive rate of ANA, ANCA, SMA and AMA were significantly different from that of the non-IgG4-SC group (p <.05). (2) Serum levels of IgG4 and CA19-9 increased significantly in patients with IgG4-SC compared with the healthy controls (p <.01). The areas under the ROC curve (AUC) of IgG4 and CA19-9 were 0.9750 and 0.6498, respectively (p <.05). Conclusion: The high levels of serum IgG4 and CA19-9, and autoantibodies detections are of great important clinical value in diagnosis and differential diagnosis of IgG4-SC. [ABSTRACT FROM AUTHOR]