Articles: disease.
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Case Reports
A newborn with convulsions 12 days after birth was misdiagnosed as neonatal intracranial hemorrhage: Case report.
Cases with early diagnosis of neonatal tuberous sclerosis syndrome (TSC) are relatively seldom seen, and misdiagnosis of intracranial hemorrhage is even more rare. We retrospectively analyzed the clinical data of a case of neonatal tuberous sclerosis with atypical early symptoms and misdiagnosed as more common intracranial hemorrhage of the newborn. ⋯ The TSC of neonatal tuberous sclerosis is different from that of older children. It is usually characterized by respiratory distress and arrhythmia, and may be accompanied by convulsions, but the activity between attacks is normal. However, neonatal intracranial hemorrhage can be caused by premature delivery, birth injury, hypoxia, etc. Its characteristics are acute onset, severe illness, and rapid progression. Consequently, the diagnosis of these 2 diseases should not only be based on medical imaging, but also be combined with their clinical characteristics. When the imaging features are inconsistent with the clinical diagnosis, a comprehensive evaluation should be made again. The timing and pattern of onset of neonatal convulsions can help in differential diagnosis. If there is cardiac rhabdomyoma, subependymal or cortical nodule, skin low melanoma, etc, the possibility of neonatal TSC should be considered, and the diagnosis should be made according to its diagnostic criteria to avoid or reduce misdiagnosis.
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Case Reports
Acquired isolated factor VII deficiency in a patient with myxoid pleomorphic liposarcoma, case report.
Acquired factor VII (FVII) deficiency is a rare condition with various causes, including acquired inhibitors to FVII, liver disease, and malignancies. Myxoid pleomorphic liposarcoma is a rare and aggressive form of soft tissue sarcoma that can cause a range of clinical manifestations, including bleeding and clotting disorders. ⋯ This case highlights the importance of considering rare causes of bleeding and clotting disorders, particularly in unresponsive or atypical presentations. It also underscores the need for close monitoring and follow-up in patients with acquired FVII deficiency, even after successful treatment.
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To investigate the mechanism of action of Cao Wu in the treatment of migraine from the perspective of network pharmacology. The Swiss Target Prediction Database and CTD database were used to predict the target information of Cao Wu. Human Genome Database gene cards were used to find migraine-related target genes. ⋯ The protein interaction network of the overlapping targets was analyzed to identify the key targets for the drug to affect the disease. In addition, Kyoto Encyclopedia of Genes and Genomes pathway and go function enrichment analyses were performed on the overlapping targets to explore the therapeutic mechanism of migraine. The treatment of migraine with herbal woo is characterized by multi-component, multi-target, and multi-channel, which exerts complex network regulation through the interaction between different targets, providing a new idea and basis for further exploring the mechanism of action of herbal woo in the treatment of migraine.
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17α-Hydroxylase/17, 20-lyase deficiency (17OHD) is a recessively inherited autosomal disease caused by CYP17A1 gene mutations. It is characterized by failure to synthesize cortisol, adrenal androgens and gonadal steroids. However, it is rare in clinic combining with type 2 diabetes mellitus (T2DM). ⋯ For patients with hypertension, hypokalemia and lack of pubertal development, the possibility of 17OHD should be considered. The subsequent treatment would be challenging in patients with combined 17OHD and T2DM, considering the potential contribution of glucocorticoids to diabetic balance and osteoporosis.
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Autism spectrum disorder (ASD) has evolved from a narrow and rare childhood-onset disorder to a widely publicized and researched lifelong disease recognized as common and significantly heterogeneous. Researchers have suggested that gastrointestinal symptoms in ASD may be a manifestation of an underlying inflammatory process. However, there is a lack of bibliometric analysis of ASD and gut microbiota in children. ⋯ The journal with the most published articles on this topic is Nutrients, whereas PLOS One is the most cited journal. The most used keyword is "gut microbiota," and the reference for the highest outbreak intensity is Hsiao. The research hotspots and trends predicted in this study provide a reference for further in-depth research in this field.