Articles: disease.
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Review Case Reports
NR5A1-related 46,XY partial gonadal dysgenesis: A case report and literature review.
Disorders/differences of sex development (DSD) include a diverse group of congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is discordant. It involves several variant genes, and one of them is NR5A1. NR5A1 encodes a signal transduction regulator in the hypothalamic-pituitary-gonadal and hypothalamic-pituitary-adrenal pathway, and pathogenic mutation in this gene is a cause of 46,XY DSD. ⋯ 46,XY DSD is a rare disease that the development of chromosomal, gonadal, or anatomical sex is discordant, when diagnosed 46,XY DSD, the identification of an NR5A1 variant should be considered.
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Multiple myeloma (MM) is the second most prevalent hematological malignancy and is distinguished by the aberrant proliferation of monoclonal plasma cells inside the bone marrow and production of M-protein. This condition frequently results in bone deterioration, acute kidney damage, anemia, and hypercalcemia. However, the clinical manifestations and accompanying symptoms of MM vary and may change as the condition evolves. ⋯ The integration of laboratory testing technologies with imaging technology has the potential to enhance the diagnostic effectiveness and provide a thorough evaluation of disease progression and prognosis in patients with MM. All the examination methods have advantages and disadvantages. Therefore, diagnosis is determined by the application of clinical characteristics, serological tests, and imaging investigations.
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Dengue fever is a frequently occurring infectious disease caused by the Dengue virus, prevalent in tropical and subtropical regions. Chaishi Jiedu Granules (CSJD) is an empirical prescription of the Eighth Affiliated Hospital of Guangzhou Medical University in the treatment of dengue fever, which has been widely used in the treatment of dengue fever, and has shown good efficacy in improving the clinical symptoms of patients. ⋯ Among them, luteolin and wogonin in CSJD also inhibited dengue virus replication and reduced inflammation, and showed good binding force with IL-6 and TNF. Therefore, this study provides an important reference for the development of CSJD as a potential drug for dengue fever treatment and a new perspective for research and development in this field.
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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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Patients with ischemic stroke and branch atheromatous disease (BAD) have worse neurological deficits and prognoses than those with small vessel occlusion (SVO). However, both disorders are forms of deep brain infarctions. This study aimed to investigate an MRI-based etiological classification for isolated pontine infarctions and assess differences in vascular risk factors and peripheral arterial disease among etiological subtypes. ⋯ No significant difference was found in diabetes or brachial-ankle pulse wave velocity incidence between the BAD and SVO groups. ABI and vascular risk factors in the BAD group were more similar to those in the LAA group than to those in the SVD group. This finding suggests that pontine lesions extending to the basal pontine surface have an atherosclerotic mechanism in BAD, requiring potent antiplatelet therapy for the secondary prevention of ischemic stroke.