Medicine
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Case Reports
Case report: Moyamoya disease, the culprit in an adult female presenting with left sided numbness.
Moyamoya disease is a rare progressive cerebrovascular disease that is characterized by stenosis of the vascular branches of the internal carotid artery and the development of abnormal, fragile collateral vessels. Patients with Moyamoya disease mainly present with signs and symptoms of cerebral ischemia or cerebral hemorrhage with a typically progressive course. ⋯ This case highlights the importance of considering Moyamoya disease in the differential diagnosis of patients presenting with sudden neurological symptoms. High-resolution vessel wall MRI is a useful tool to diagnose this disease.
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Case Reports
Positive response of a recurrent clear cell sarcoma to anlotinib combined with chemotherapy: A case report.
Renal clear cell sarcoma is a rare and highly invasive malignant renal tumor that easily relapses after treatment. Recurrent recurrent clear cell carcinoma (CCSK) responds poorly to chemotherapy and has no established standardized treatment, and need to be explored potentially useful treatments. ⋯ This is the first report describing the use of anlotinib in treating CCSK. We believe that anlotinib combined with chemotherapy may be a useful treatment option for patients with recurrent CCSK.
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Climate and temperature have long been considered in relation to human diseases and mortality. In this study, we investigated whether daily temperature and humidity and patients' personal history affect the volume of peritonsillar abscesses (PTAs). We included 52 patients with PTAs who were admitted to the emergency department of the study hospital; their computed tomography data were analyzed, and PTA volume was measured. ⋯ PTA volume appears to be strongly associated with temperature differences between 1 and 2 days before hospitalization and the day of hospitalization. Patients with treatment experience at local clinics exhibited substantial increases in PTA volume. Thus, an increased PTA volume may be observed in patients who visit the emergency department without any treatment experience at local clinics or from environments that differ considerably from their current environment in terms of temperature.
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Niemann-Pick disease Type C (NPC) is a genetic, incurable, neurodegenerative disorder. This orphan disease is most frequently caused by mutations in the NPC1 protein, resulting in intralysossomal cholesterol accumulation. NPC1 is found in neuronal cell bodies, axon terminals and synaptosomes, suggesting it plays a role in lysosomal degradation pathway and in synaptic transmission. Neuronal function is especially vulnerable to NPC1 deficiency and synaptic changes seem a key element in disease development. Currently, Miglustat (Zavesca®) is the only approved treatment for NPC. However, preclinical evidence showed that low-dose Efavirenz reverted synaptic defects through pharmacological activation of the enzyme CYP46. ⋯ NPC is still an unmet medical need. Although different therapeutic approaches are under study, this is the first clinical trial (to the best of our knowledge) studying the effects of Efavirenz in adult- and late-juvenile-onset NPC. Despite the small sample size and the single-arm design, we expect the results to show Efavirenz's capacity of activating the CYP46 enzyme to compensate for NPC1 deficiency and correct synaptic changes, therefore compensating cognitive and psychiatric changes in these patients. This study may provide direct benefit to enrolled patients in terms of slowing down the disease progression.
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Although universal vaccination has been administered to toddlers, South Korea has had periodic nationwide outbreaks of acute hepatitis A since the late 2000s. We examined the chronological changes in the seroprevalence of anti-hepatitis A virus (HAV) immunoglobulin G (IgG) over the past 15 years (2005-2019). We retrospectively collected data from 45,632 subjects who underwent anti-HAV IgG testing without evidence of acute HAV infection at four centers in the capital area of South Korea between January 2005 and December 2019. ⋯ Since the introduction of the universal vaccination, the seroprevalence of anti-HAV IgG in children and young adults has gradually increased. However, the seroprevalence of anti-HAV IgG in people in their 20s remains low, and the seroprevalence of anti-HAV IgG in people in their 30s and 40s is gradually decreasing. Therefore, a new strategy for HAV vaccination is needed for those in their 20s to 40s.