Medicine
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Methimazole is an antithyroid drug that is widely used for the treatment of hyperthyroidism. As an inhibitor of the enzyme thyroperoxidase, methimazole is generally well-tolerated. However, there have been increasing reports of methimazole-induced liver damage, although this effect of methimazole has been limited by the absence of objective diagnosis of the liver condition or the inappropriate use of the Naranjo scale. We present the case of an elderly man with hyperthyroidism, gastritis, and epilepsy who developed liver damage after administration of multiple drugs. ⋯ Our case underlines the possible hepatoxicity associated with the use of methimazole. A review of the literature confirmed a selective hepatoxicity risk in individuals of Asian ethnicity, which has not been identified in Caucasian or Black populations. Physicians should be aware of the risk of hepatoxicity when prescribing oral methimazole to patients of Asian ethnicity.
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Case Reports
Novel chromosomal microduplications associated with dolichocephaly craniosynostosis: A case report.
Craniosynostosis is a human disorder characterized by the premature fusing of the cranial sutures in infants. Point mutations in hotspot genes such as FGFRs are the well-recognized causes of syndromic craniosynostosis, but chromosomal abbreviations may also play an important role in developing this disease. Here, we report the case in China of a 2-year-boy dolichocephaly craniosynostosis. Karyotyping by both G-bind staining and array-based DNA hybridization identified microduplications on Chromosomes 8p11.22 q12.1 and 16q11.2 q21, but none of the known pathogenic mutations was detected. ⋯ This finding not only expands knowledge on the genetic mechanism of craniosynostosis but also provides a new target for the early diagnosis of this rare disease.
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Amelanotic malignant melanoma (AMM) is a rare subtype of malignant melanoma (MM) that manifests atypically and is easily misdiagnosed or missed altogether. The keloid type of AMM has rarely been reported. Herein, we provide information to improve the clinical diagnosis of AMM types and raise awareness to ensure early diagnosis and timely treatment. ⋯ Early AMM diagnosis has a very significant effect on prognosis. For some persistent and growing proliferative lesions, obliterative treatments should be avoided before a definitive histopathological diagnosis has been made.
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Glucocorticoids are the primary anti-inflammatory therapy for asthma, but their effects are characterized by some interindividual variability that might have a genetic basis. We aimed to determine the relationship between pulmonary function change and the variant of the glucocorticoid-induced transcript 1 (GLCCI1) gene in patients with asthma receiving long-term ICS treatment, the association of GLCCI1 genotypes and the level of GLCCI1 expression and cytokines production. A total of 418 patients with asthma, including 25 individuals from 11 families with a history of asthma, were enrolled. ⋯ When patients were stratified according to genotype, GLCCI1 expression was enhanced upon administration of low-dose dexamethasone among patients with the rs37973 A allele; however, GG homozygotes required high-dose dexamethasone to achieve enhanced GLCCI1 expression. Furthermore, the levels of some cytokines were significantly reduced after glucocorticoid treatment in individuals with the AA and AG genotypes. The genetic variant rs37973 in GLCCI1 is associated with poorer clinical therapeutic response to inhaled glucocorticoids in a Chinese asthma population.
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Although numerous reconstruction protocols have been reported for lower leg trauma, those for distal leg trauma remain few. We present the case of a woman with an implant exposure wound, who was successfully treated through fat grafting, without major flap surgery. ⋯ Fat grafting is one kind of cell therapy and potentially has regenerative effects during wound healing. Fat grafting is critical in the healing processes of complicated wounds and might be considered a step in reconstruction surgery.