Medicine
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Case Reports
Dedicator of cytokinesis 8 deficiency and hyperimmunoglobulin E syndrome: A case report.
Hyperimmunoglobulin E syndrome (HIES) is a rare and complex immunoregulatory multisystem disorder characterized by recurrent eczema, skin and sinopulmonary infections, elevated serum immunoglobulin E levels, and eosinophilia. Onset is most likely in childhood, although infrequent adult cases have been reported. Early diagnosis is important. The use of the National Institutes of Health scoring system and the HIES signal transducer and activation of transcription 3 score can standardize the diagnosis of HIES. ⋯ Regardless of patient age, it is important to consider the possibility of HIES when a patient has recurrent eczema, skin and sinopulmonary infections, elevated serum immunoglobulin E levels, and eosinophilia. Early diagnosis and intervention are essential to improve prognosis.
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To explore the effects of type 2 diabetes mellitus (T2DM) on osteoarthritis (OA), 12 bone tissue samples were obtained surgically from the human total knee arthroplasty patients and analyzed by quantitative proteomics. ⋯ OA and DMOA onset and progression were closely related to synthesis and metabolism of extracellular matrix components (e.g., fibronectin, decorin, etc.). The effects of T2DM on OA occur though 2 major ways of oxidative stress and low-grade chronic inflammation, involving in 2 inhibited signaling pathways and 4 activated signaling pathways.
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Genetic variation is known to affect response to calcium channel blockers (CCBs) among different populations. This study aimed to determine the genetic variations associated with poor response to this class of antihypertensive drugs among Filipinos. One hundred eighty one hypertensive participants on CCBs therapy were included in an unmatched case-control study. ⋯ The variant rs1458038 near fibroblast growth factor 5 gene showed significant association with poor blood pressure-lowering response based on additive effect (CT genotype: adjusted OR 3.41, P = .001; TT genotype: adjusted OR 6.72, P < .001). These findings suggest that blood pressure response to calcium channels blockers among Filipinos with hypertension is associated with gene variant rs1458038 near fibroblast growth factor 5 gene. Further studies are recommended to validate such relationship of the variant to the CCB response.
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We retrospectively reviewed the medical records of patients with pathologically confirmed gastric cancer/adenocarcinoma who underwent curative surgical resection follow-up within 3 years at Shanxi cancer hospital between 2002 and 2020. The clinicopathologic parameters explored included gender, age at surgery, vascular invasion, neural invasion, Tumor infiltration depth (T stage), N stage, TNM stage, chemotherapy, Lauren classification, maximum diameter of tumor, type of gastrectomy, tumor location and survival data. With a median follow-up of 29 months (range 0-36 months), the ratio of patients with recurrence was 26.80% (n = 226) and the death rate of patients was 45.31% (n = 382) in this period. ⋯ More than 9 cycles of chemotherapy was able to reduce the probability of recurrence. T Stage, TNM stage, maximum diameter of tumor were independent factors associated with overall survival of gastric cancer of follow-up within 3 years. For maximum diameter of tumor, the probability of death of more than 6 cm was 1.317 times less than 6 cm within 3 years of follow-up.
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POEMS (polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes) syndrome is a rare and complicated disease related to multiple organs and systems. Here, we report a case of systemic mastocytosis (SM) that was misdiagnosed as a POEMS syndrome. ⋯ There are many similar features between POEMS syndrome and SM, probably leading to misdiagnosis. This study analyzed the different points between them which can provide help for differentiation.