The variants in PTPRB,TRAF3IP3, and DISC1 genes were associated with Graves’ disease in the Chinese population

Previously, a case series study was conducted on our part in which 5 patients with Graves’ disease (GD) were collected from a 3-generation family to screen for susceptibility genes responsible for GD. The single nucleotide variants of Microtubule-associated protein 7 domain containing 2 c. 452C > T, p. Ala151Val, Solute carrier family 1 member 7 c. 1204C > T, p. Arg402Cys, tumor necrosis factor receptor-associated factor 3 interacting protein 3 (TRAF3IP3) c. 209A > T, p. Asn70Ile, protein tyrosine phosphatase receptor type B (PTPRB) c. 3472A > G, p. Ser1158Gly, Phosphoinositide-3-kinase regulatory subunit 3 c. 121C > T, p. Pro41Ser, disrupted in schizophrenia 1 (DISC1), c. 1591G > C p. Gly531Arg were associated with the familial GD. We then further confirmed these variants and investigated whether other mutations render susceptibility to GD. The case-control study collected patients with sporadic GD or no GD family history. A snapshot program was used for genotyping the selected SNPs in 235 GD patients (GD group 1) and 284 healthy patients (control group). Furthermore, another 184 GD patients were recruited (GD group 2) to sequence the specified exons of these genes. The sequenced data was compared with Chinese Millionome Database (CMDB). Several variants of PTPRB, phosphoinositide-3-kinase regulatory subunit 3, TRAF3IP3, and DISC1 were found in GD group 2 but not in CMDB. Moreover, the allele frequency of SNP rs2076150 (TRAF3IP3) and rs2492367 DISC1 in GD group 2 was significantly higher than that of in CMDB (all P < .05). When the control group or CMDB was set as a reference group, a significantly higher frequency in alter allele C of SNP rs186466118 PTPRB was observed in GD group 1 and GD group (constituted by GD group 1 and GD group 2). Equally importantly, there was a correlation between the allele C of SNP rs186466118 and the increased risk of GD susceptibility (all P < .05). PTPRB, TRAF3IP3, and DISC1 may be susceptibility genes for GD, and more variants of PTPRB, TRAF3IP3, and DISC1 were found in GD patients.     

Application value of coaxial puncture needle (technique) in ultrasound-guided puncture biopsy of peripheral pulmonary masses

This study aims to investigate the effect of ultrasound (US)-guided coaxial puncture needle in puncture biopsy of peripheral pulmonary masses. In this retrospective analysis, 157 patients who underwent US-guided percutaneous lung biopsy in our hospital were divided into a coaxial biopsy group and a conventional biopsy group (the control group) according to the puncture tools involved, with 73 and 84 patients, respectively. The average puncture time, number of sampling, sampling satisfaction rate, puncture success rate and complication rate between the 2 groups were compared and discussed in detail. One hundred fifty-seven patients underwent puncture biopsy, and 145 patients finally obtained definitive pathological results. The overall puncture success rate was 92.4% ([145/157]; with a puncture success rate of 97.3% [71/73] from the coaxial biopsy group and a puncture success rate of 88.1% [74/84] from the conventional biopsy group (P < .05). For peripheral pulmonary masses ≤3 cm, the average puncture time in the coaxial biopsy group was shorter than that in the conventional biopsy group, and the number of sampling, sampling satisfaction rate and puncture success rate were significantly higher than those in the conventional biopsy group (P < .05). There was no significant difference in the complication rate between the 2 groups (P > .05). For peripheral pulmonary masses >3 cm, the average puncture time in the coaxial biopsy group was still shorter than that in the conventional biopsy group (P < .05). The differences between the 2 groups in the number of sampling, satisfaction rate of the sampling, the success rate of puncture and the incidence of complications were not significant (P > .05). US guided coaxial puncture biopsy could save puncture time, increase the number of sampling, and improve the satisfaction rate of sampling and the success rate of puncture (especially for small lesions) by establishing a biopsy channel on the basis of the coaxial needle sheath. It provided reliable information for the diagnosis, differential diagnosis and individualized accurate treatment of lesions as well.     

Application of family-involved smart medication management system in rural-dwelling middle-aged and older adult participants with chronic diseases: Management of chronic diseases in rural areas

Management of patients with chronic diseases in rural areas and the use of medications need to be urgently addressed. Therefore, this study aimed to evaluate the efficacy of a family-involved smart medication management system for rural patients with chronic diseases. Between June and August 2021, 82 patients with chronic diseases were selected using convenience sampling from 2 county towns in Hebei Province, China. They were randomly divided into control (41 participants) and experimental (41 participants) groups. The control group was managed using a routine medication management model for chronic diseases. The experimental group was managed using a family-involved smart medication management system, in addition to the control group interventions. The groups were graded using the 8-item Morisky Medication Adherence Scale (MMAS-8), the Self-efficacy for Appropriate Medication Use Scale (SEAMS), the Medication Knowledge Assessment Questionnaire, and the Family Support Scale before the intervention and at 8 and 24 weeks after the intervention. Pre-intervention group differences were not statistically significant. At 8 weeks after the intervention, the control group showed no statistically significant differences in the MMAS-8, SEAMS, and Medication Knowledge Assessment scores pre-and post-intervention. These scores were higher in the experimental group than in the control group, with the post-intervention scores being higher than the pre-intervention scores. The MMAS-8, SEAMS, and Medication Knowledge Assessment scores for the experimental group were higher at 24 weeks than at 8 weeks; these scores were higher in the experimental group than in the control group. The experimental group also had higher family support scores than the control group; these scores were higher pre-intervention than post-intervention. A family-involved smart medication management system can effectively improve medication adherence, self-efficacy for appropriate medication use, medication knowledge assessment scores, and family support for rural middle-aged and older adult patients with chronic diseases.     

Comparison between placenta accreta scoring system,ultrasound staging,and clinical classification

Placenta accreta spectrum (PAS) is a series of disorders, which means that the placental trophoblast invades into the myometrium of the uterine wall. It is a serious obstetric complication which could be detected by ultrasound prenatally. In order to compare our placenta accreta scoring system with prenatal ultrasound staging system and International Federation of Gynecology and Obstetrics (FIGO) clinical classification, we did a retrospective study including 105 patients diagnosed with PAS disorders by operation or pathology at Peking University First Hospital, Beijing, China, between January, 2019 and December, 2020. Placenta accreta scoring system, prenatal ultrasound staging system and FIGO clinical classification were used on each patient. Basic information and clinical outcomes including gestational weeks, intraoperative hemorrhage, hysterectomy rate and blood transfusion were also counted. Both of placenta accreta scoring system, prenatal ultrasound staging system can give a rather clear prediction of placenta percreta, with their area under curve were 0.872 (95% confidential interval [CI]: 0.793–0.951) and 0.864 (95%CI: 0.779–0.949), P value were .000 compared with clinical classification. Beside for ultrasound staging system was designed for placenta previa patients, all those 3 criteria showed their relationships with preterm birth, hysterectomy rate and intraoperative bleeding. PAS scoring system also had the ability to predict a gestational week of delivery ≤34 weeks, intraoperative massive bleeding ≥2000 mL and hysterectomy at over 12 points. Our placenta accreta scoring system had good accordance with pre-operational ultrasound staging and FIGO clinical classification, with higher universality for patients without placenta previa.     

Significance of differential expression of OLFM4 in the development of endometrial adenocarcinoma

The incidence of endometrial adenocarcinoma (EA) has increased worldwide in recent years due to the widespread use of estrogen therapy and the overall increase in life expectancy. However, we know of no sensitive molecular index that can be used to predict the onset of EA, evaluate the therapeutic effects of treatment agents, or provide prognostic benefit in post-treatment follow-up. To explore the correlation between human olfactomedin 4 (OLFM4) and the clinicopathologic parameters of EA, and to determine the precise involvement of OLFM4 as a related factor in the occurrence and development of EA. We enrolled 61 gynecologic patients for a retrospective study at the Tai’an Central Hospital of Shandong Province from January 1, 2016, to June 30, 2022. We determined the expression levels of estrogen receptor α (ERα), progesterone receptor (PR), and OLFM4 proteins in endometrial tissue with the immunohistochemical S-P staining method, and analyzed the correlations among ERα, PR, and OLFM4 protein expression levels and with the pathologic stage, histologic grade, myometrial invasiveness, and lymphatic metastasis of EA. The expression levels of OLFM4 in EA were higher than in normal endometrium (P = .036). The expression level of OLFM4 protein in stage II-III patients was higher than that in stage I patients (P = .034), and the expression levels of ERα and PR proteins in EA were lower than those in normal endometrial tissue (P = .014 and P = .0005). While we observed no correlation in endometrial tissues of disparate pathologic types between OLFM4 and the expression levels of ERα and PR proteins, we noted a positive correlation between the expression levels of ERα and PR protein. The expression level of OLFM4 protein increased with the malignant degree of endometrial lesions and OLFM4 protein expression was related to the FIGO stage of EA. And OLFM4 protein can be used as 1 of the potential diagnostic factors for endometrial lesions, which is worthy of further study.