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Purpose: We aimed to report the clinical and immunological characteristics of variant type X91+ chronic granulomatous disease (CGD) in a Chinese cohort. Methods: The clinical manifestations and immunological phenotypes of patients with X91+ CGD were collected. A dihydrorhodamine (DHR) analysis was performed to evaluate neutrophil function. Gp91phox protein expression was determined using extracellular staining with the monoclonal antibody (mAb) 7D5 and flow cytometry. Results: Patients with X91+ CGD accounted for 8% (7/85) of all patients with CGD. The median age of onset in the seven patients with X91+ CGD was 4 months. Six patients received the BCG vaccine, and 50% (3/6) had probable BCG infections. Mycobacterium tuberculosis infection was prominent. The most common sites of infection were the lung (6/7), lymph nodes (5/7), and soft tissue (3/7). Two patients experienced recurrent oral ulcers. The stimulation index (SI) of the patients with X91+ CGD ranged widely from 1.9 to 67.3. The difference in the SI among the three groups of patients (X91+ CGD, X91− CGD, and X910 CGD) was statistically significant (P = 0.0071). The three groups showed no significant differences in onset age, diagnosis age, or severe infection frequency. CYBB mutations associated with X91+ CGD were commonly located in the second transmembrane or intracellular regions. Three novel X91+ CGD–related mutations (c.1462–2 A > T, c.1243C > T, and c.925G > A) were identified. Conclusions: Variant type X91+ CGD may result in varied clinical manifestations. Moreover, the laboratory findings might indicate a moderate neutrophil SI. We should deepen our understanding of variant X91+ CGD to prevent missed diagnoses. [ABSTRACT FROM AUTHOR]

Abstract Background The Friedewald formula (FF) is useful for calculating serum low-density lipoprotein cholesterol (LDL-C) values, but has a remarkable deviation and limitation especially in hypertriglyceridemia. We modify the formula which is now more suitable for LDL-C calculation. Methods 2180 cases were classified into three groups according to their TG concentrations (A: < 200 mg/dl, n = 1220; B: 200-400 mg/dl, n = 480; C: 400-1000 mg/dl, n = 480). The concentrations of LDL-C were measured or estimated by 1) a direct measurement (DM); 2) the FF; and 3) our modified Friedewald formula (MFF): LDL-C (mg/dl) = Non-HDL-C × 90% - TG × 10%. Results Linear regression showed a significant correlation (P < 0.001) between the measured and calculated LDL-C values. Bland-Altman plots indicated that the methods (DM/MFF) were in better agreement than those (DM/FF). The LDL-C/Non-HDL-C ratio in FF calculated values was significantly lower (P < 0.05) than that in MFF or DM values, while no significant difference between MFF and DM was found. In Group A and Group B, 4.26% and 14.79% of the MFF calculated values had more than 20% deviation from those measured by DM. These percentages were significantly lower than those calculated by FF, where 7.30% and 25.63% were observed, respectively (P < 0.01 and P < 0.001). The MFF calculated values were all positive even in Group C. Conclusions Compared with the FF calculation, serum LDL-C values estimated by our modified formula are closer to those measured by a direct assay. The modification significantly diminishes the interference caused by hypertriglyceridemia.

Background: Cervical cancer (CC) is one of the most deadly cancers in women, its current treatments still result in poor outcomes and developing the novel targets and therapeutic strategies are urgently needed. Qiu's Cervical Prescription (QCP) is one of the traditional Chinese medicines used in the treatment of cervical cancer in China. Although its curative effect is remarkable, the internal mechanism of its treatment is still poorly understood. Recent studies have shown that LncRNA ATB might be used as a new proliferation marker for cancer diagnosis and prognosis. This study aimed to investigate the possible mechanism of action of QCP in the treatment of cervical cancer., Methods: The functional assays of migration and invasion in vitro using transwell assays and wound healing assays was performed to confirm the pro-carcinogenic effect of LncRNA ATB, and the changes of migration and invasion of HeLa cells were observed after treatment with QCP containing drug serum. The changes in tumor volume, general condition of transplanted tumor-bearing mice and expression of LncRNA ATB pathway-related proteins were detected by qPCR, Western blotting and HE staining after treatment with the QCP., Results: We induced LncRNA ATB knockdown and overexpression in cervical cancer cell lines and detected the biological behavior changes in vitro. Furthermore, we established murine models using stable LncRNA ATB-shRNA HeLa cells or overexpression LncRNA ATB cells or normal Hela cells with QCP to evaluate how suppression of LncRNA ATB affects tumor growth., Conclusion: We showed that potential mechanism of QCP in the treatment of cervical cancer may be through inhibition of the LncRNA ATB/miR-126/TGFβ1 signaling axis. In conclusion, QCP may be a promising approach for the treatment of CC., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier GmbH. All rights reserved.)