Congenital adrenal hyperplasia disorder due to 17 α-hydroxylase deficiency: a case report.

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with a related enzyme deficiency involved in the adrenal corticosteroid synthesis pathway due to genetic mutations. 17α-hydroxylase deficiency(17α-OHD) is a rare form of CAH. Herein, we reported clinical data on diagnosis and treatment regimens for a 17α-hydroxylase-deficient patient. A 24-year-old female patient was admitted to the hospital with limb numbness for 7 days and sudden limb weakness. Full laboratory and radio-imaging investigations showed hypokalemia and abdominal occupation. Abnormal rhythm of cortisol(Cor) and adrenocorticotrophic hormone (ACTH)was observed. The diagnosis was confirmed by molecular mutation detection, which showed a homozygous mutation of c.987del in the 17-hydroxylase/17,20-lyase deficiency (17OHD) lease-related CYP17A1 from both biological parents. The patient was treated with prednisone acetate and estradiol valerate. After one year of treatment with predisoone acetate and estradiol valerate, the patient had normal menstruation, increased blood potassium, estradiol and 24h-UFC, and decreased ACTH level. There is no significant change in large adrenal hyperplasia lesions although sexual characteristics and menstrual cycles have recovered. Through this case and literature review, it can be concluded that CAH with 17α-OHD can be diagnosed according to the genetic detection.

Mechanism of Fuzheng Kang'ai Formula Regulating Tumor Microenvironment in Non-Small Cell Lung Cancer.

OBJECTIVE: To study the mechanism of Chinese herbal medicine Fuzheng Kang'ai Formula (, FZKA) on tumor microenvironment (TME). METHODS: CIBERSORTx was used for analysis of TME. Traditional Chinese Medicine Systems Pharmacology and Analysis Platform was applied to identify compounds-targets network and the Cancer Genome Atlas (TCGA) was employed to identify the differential expression genes (DEGs) between tumor and paracancerous tissues in lung adenocarcinoma (LUAD) from TCGA-LUAD. Additionally, DEGs with prognosis in LUAD was calculated by univariable and multivariate Cox regression. The core targets of FZKA were analyzed in lung adenocarcinoma TME. Protein-protein interaction database was employed to predict down-stream of target. Quantitative reverse transcription polymerase chain reaction was employed for biological experiment in A549, H1299 and PC9 cell lines. RESULTS: The active and resting mast cells were significantly associated with prognosis of LUAD (P<0.05). Of the targets, CCNA2 as an important target of FZKA (hazard ratio=1.41, 95% confidential interval: 1.01-2.01, P<0.05) was a prognostic target and significantly associated with mast cells. CCNA2 was positively correlated with mast cell activation and negatively correlated with mast cell resting state. BCL1L2, ACTL6A and ITGAV were down-stream of CCNA2, which were validated by qRT-PCR in A549 cell. CONCLUSION: FZKA could directly bind to CCNA2 and inhibit tumor growth by regulating CCNA2 downstream genes and TME of NSCLC closely related to CCNA2.

The effects of laparoscopic myomectomy and open surgery on uterine myoma patients' postoperative immuno-inflammatory responses, endocrine statuses, and prognoses: a comparative study.

OBJECTIVE: To explore the effects of laparoscopic myomectomy and open surgery on the postoperative inflammatory responses, endocrine statuses, and prognoses of uterine myoma patients. METHODS: Uterine myoma patients (n=126) admitted to the Department of Gynecology in our hospital were recruited as the study cohort and divided into an observation group (n=63), and a control group (n=63). The patients in the observation group underwent laparoscopic myomectomies, and the patients in the control group underwent open surgery. The completion times, intraoperative blood loss volumes, postoperative hospital stay durations, postoperative exhaust times, preoperative and postoperative immune function, inflammatory factors, sex hormone levels, postoperative complications, and prognoses were observed. RESULTS: The observation group showed shorter hospital stays, lower intraoperative blood loss volumes, and shorter postoperative exhaust times (P<0.001). After the surgery, CD3+%, CD4+%, and CD4+%/CD8+% were decreased, but the CD8+% was increased in the two groups (all P<0.01). The observation group had higher CD3+%, CD4+% and CD4+%/CD8+%, and lower CD8+% than the control group (all P<0.001). The C-reactive protein, TNF-α, and IL-6 levels were higher after the surgery in the two groups (all P<0.05), but the observation group had lower levels (all P<0.001). The follicle-stimulating hormone and luteinizing hormone levels were lower, but the estradiol levels were higher in the observation group compared to the levels in the control group (all P<0.001). The total number of complications in the observation group was significantly lower than it was in the control group (P<0.05). CONCLUSION: Laparoscopic myomectomy contributes to quick recoveries and short hospital stays, reduces the postoperative inflammatory response and immunosuppression, has little effect on the postoperative sex hormone levels, and has a low incidence of complications. It is worthy of clinical application.

Study on the gene signature related to immune microenvironment on viral and nonviral infections of hepatocellular carcinoma.

ABSTRACT: The pathogenesis of hepatocellular carcinoma (HCC) can be divided into viral infection (VIR) and nonviral (NVIR) infection. Two types of HCC performed different tumor immune microenvironment (TIME) which directly affected prognosis of HCC. This study aimed to identify an effective 2 types of HCC prognostic gene signature that related to immune TIME.The differential expression genes (DEGs) were analyzed by Limma R package from the Cancer Genome Atlas. Immune related genes getting from IMMport database were matched to DEGs for testing prognosis. Prognostic index (PI) consisted of prognostic immune related genes was calculated in different types of HCC by COX regression and the correlation with the abundance of immune infiltrates, including 6 type cells, via gene modules. Tumor immune estimation resource database was applied to analyze TIME. Finally, the correlations between PI of DEGs and TIICs were analyzed by the Spearman method.Results showed that PI consisted of 11 messenger RNAs in VIR and 12 messenger RNAs in NVIR groups. The PI related to HCC prognosis has different correlations with immune infiltrating cells in VIR and NVIR groups. The PI value of DEGs has significant correlations with neutrophils (R = 0.22, P-value = .029) and dendritic (R = 0.21, P-value = .036) infiltration levels in VIR group. However, in NVIR group, the result showed there were no significant correlations between PI and other 5 type cell infiltration levels (P-value > .05).The 11-gene signature in VIR and 12-gene signature in NVIR group selected based on data from the Cancer Genome Atlas database had a different correlation with immune infiltrating cells of HCC patients.

Impact of cancer on mortality and severity of corona virus disease 2019: A protocol for systematic review and meta-analysis.

BACKGROUND: Cancer patients are in a state of systemic immunosuppression and are considered a highly vulnerable population in the Corona Virus Disease 2019 (COVID-19) epidemic. However, the relationship between cancer and the severity and mortality of patients with COVID-19 remains unclear. This study aims to evaluate whether cancer patients with COVID-19 may be at an increased risk of severe illness and mortality. METHODS: We will perform comprehensive searches in PubMed, EMBASE.com, Web of Science, and the Cochrane Central Register of Controlled Trials to identify studies providing prevalence of cancer between patients with severe and non-severe illness or between non-survivors and survivors. We will use the Newcastle-Ottawa quality assessment scale to assess the quality of included studies. We will conduct pairwise meta-analyses to compute the odds ratio and 95% confidence interval using the Mantel Haenszel method with the random-effects model. The statistical heterogeneity will be assessed using the I statistic. Subgroup analyses, sensitivity analyses, and meta-regression analyses will be performed to explore the sources of heterogeneity. RESULTS: The results of this study will be published in a peer-reviewed journal. CONCLUSION: Our meta-analysis will systematically evaluate the association between cancer and the severity and mortality of patients with COVID-19. This study will provide evidence to help determine whether cancer patients should be provided with special precautions and advised to use stronger personal protection. INPLASY REGISTRATION NUMBER: INPLASY202090093.

MicroRNA-145 Mediates the Formation of Angiotensin II-Induced Murine Abdominal Aortic Aneurysm.

BACKGROUND: MicroRNA-145 (miR-145) has been implicated in vascular smooth muscle cell differentiation, but the underlying mechanisms have not been fully understood, especially their role in abdominal aortic aneurysm (AAA) expansion. Here, we sought to explore and define the mechanisms of miR-145 function in the experimental AAA models in AngII-infused ApoE-/- mice. METHODS: miR-145 was overexpressed in ApoE-/- mice via lentivirus infection, and then the incidence of AAA, maximum abdominal aortic diameter, elastin degradation and MMP2 activation were determined in AngII-infused ApoE-/- mice. RESULTS: In vivo overexpression of miR-145 by lentivirus infection greatly decreased the incidence of AAA, maximum abdominal aortic diameter, and elastin degradation, accompanied with downregulation of MMP2 activation in AngII-infused ApoE-/- mice. Cell culture assays indicated that miR-145 inhibited AngII-induced upregulation of MMP2 gene expression. In contrast, deficiency of MMP2 abolished the effects of miR-145 on AngII-induced elastin and collagens degradations in ApoE-/- mice. CONCLUSION: These data suggest that regulation of expression of miR-145 may be a potential therapeutic option for vascular disease progression such as AAA expansion.

The status of 25-hydroxyvitamin D across the spectrum of glucose tolerance among middle-aged and elderly Chinese individuals.

CONTEXT: Although vitamin D status and its inverse association with diabetes among White people have been recognized, little research on vitamin D status has been well conducted in Chinese individuals based on glucose tolerance. OBJECTIVE: To compare the vitamin D status of Chinese individuals aged 40-75 years based on the glucose tolerance status. DESIGN AND METHODS: Serum 25OHD was measured in a cross-sectional sample of 10 038 individuals aged 40-75 years from Lanzhou city, which is located in western China. RESULTS: People with normal glucose tolerance (NGT, n = 4744), prediabetes (n = 2808) or diabetes (n = 2486) aged 40-75 years were included in the study. The difference in 25OHD concentration between people with NGT and prediabetes was not significant (16·5 vs 16·0 ng/ml, P = 0·773), but the 25OHD concentration of diabetes was higher than that of subjects with NGT (16·5 vs 16·5 ng/ml, P = 0·025) and prediabetes (16·5 vs 16·0 ng/ml, P = 0·032) after adjusting confounders. There was no difference in the prevalence of vitamin D deficiency between people with NGT and diabetes (74·7% vs 74·0%, P = 0·535), but the prevalence of vitamin D deficiency of prediabetes was higher than that of people with NGT (77·0% vs 74·7%, P = 0·024) and diabetes (77·0% vs 74·0%, P = 0·012). CONCLUSIONS: Although vitamin D status was significantly different across the spectrum of glucose tolerance in middle-aged and elderly Chinese individuals, the difference was not clinically significant. The results, however, highlight the very high prevalence of vitamin D deficiency in this population and should raise the awareness of this important public health issue among health-care providers.