Case report of a Li-Fraumeni syndrome-like phenotype with a de novo mutation in <i>CHEK2</i>

BACKGROUND: Cases of multiple tumors are rarely reported in China. In our study, a 57-year-old female patient had concurrent squamous cell carcinoma, mucoepidermoid carcinoma, brain cancer, bone cancer, and thyroid cancer, which has rarely been reported to date. METHODS: To determine the relationship among these multiple cancers, available DNA samples from the thyroid, lung, and skin tumors and from normal thyroid tissue were sequenced using whole exome sequencing. RESULTS: The notable discrepancies of somatic mutations among the 3 tumor tissues indicated that they arose independently, rather than metastasizing from 1 tumor. A novel deleterious germline mutation (chr22:29091846, G->A, p.H371Y) was identified in CHEK2, a Li–Fraumeni syndrome causal gene. Examining the status of this novel mutation in the patient's healthy siblings revealed its de novo origin. CONCLUSION: Our study reports the first case of Li–Fraumeni syndrome-like in Chinese patients and demonstrates the important contribution of de novo mutations in this type of rare disease

Selenium Supplementation May Decrease Thyroid Peroxidase Antibody Titer via Reducing Oxidative Stress in Euthyroid Patients with Autoimmune Thyroiditis

Objective. Selenium, as an antioxidant, has been implicated in the development of autoimmune thyroiditis (AIT). Many studies showed selenium supplementation could decrease thyroid autoantibodies in patients with AIT. However, the underlying mechanisms have not been well determined. Therefore, we performed a clinical study to investigate the possible mechanism of beneficial effects of selenium treatment on AIT patients. Methods. Forty euthyroid patients with AIT were randomized into two groups. Group I was treated with 200 μg/day selenium supplementation, and group II received a placebo over a 3-month period. Thyroid stimulating hormone (TSH), thyroid peroxidase antibody (TPOAb), antithyroglobulin antibody (TgAb), malondialdehyde (MDA), total antioxidant capacity (TAC), and superoxide dismutase (SOD) were measured before and 3 months after treatments. Additionally, twenty healthy volunteers also served as a control group for the evaluation of such parameters in basic condition. Results. Totally, 32 patients (group I, n = 18; group II, n = 14) completed the clinical study and were incorporated into the statistics. MDA level was higher and SOD activity and TAC were lower in patients compared to healthy individuals. After 3 months, TPOAb titer significantly decreased within group I (P0.05). Additionally, decreased MDA level (from 6.8 ± 1.3 nmol/ml to 4.9 ± 0.7 nmol/ml; P<0.001) and increased TAC (from 10.0 ± 1.9 mmol/l to 12.9 ± 3.1 mmol/l; P=0.003) and SOD activity (from 72.3 ± 10.3 U/ml to 84.3 ± 13.2 U/ml; P=0.007) were simultaneously observed after 3 months’ selenium treatment. Moreover, there was a negative correlation between TAC and TgAb/TPOAb and a positive correlation between MDA and TgAb/TPOAb in AIT patients. Conclusions. Our findings support the hypothesis that selenium treatment could decrease TPOAb titer via enforcing the defense against oxidative stress in euthyroid patients with AIT, which may be a potential underlying mechanism

The quality of migrant patients’ primary healthcare experiences and patient-centered medical home achievement by community health centers: results from the China greater bay area study

Abstract Background In China, Community Health Centers (CHCs) provide primary healthcare (PHC); however, few studies have examined the quality of PHC services experienced by migrant patients. We examined the potential association between the quality of migrant patients’ PHC experiences and the achievement of Patient-Centered Medical Home by CHCs in China. Methods Between August 2019 and September 2021, 482 migrant patients were recruited from ten CHCs in China’s Greater Bay Area. We evaluated CHC service quality using the National Committee for Quality Assurance Patient-Centered Medical Home (NCQA-PCMH) questionnaire. We additionally assessed the quality of migrant patients’ PHC experiences using the Primary Care Assessment Tools (PCAT). General linear models (GLM) were used to examine the association between the quality of migrant patients’ PHC experiences and the achievement of PCMH by CHCs, adjusting for covariates. Results The recruited CHCs performed poorly on PCMH1, Patient-Centered Access (7.2 ± 2.0), and PCMH2, Team-Based Care (7.4 ± 2.5). Similarly, migrant patients assigned low scores to PCAT dimension C—First-contact care—which assesses access (2.98 ± 0.03), and D—Ongoing care (2.89 ± 0.03). On the other hand, higher-quality CHCs were significantly associated with higher total and dimensional PCAT scores, except for dimensions B and J. For example, the total PCAT score increased by 0.11 (95% CI: 0.07–0.16) with each increase of CHC PCMH level. We additionally identified associations between older migrant patients (> 60 years) and total PCAT and dimension scores, except for dimension E. For instance, the average PCAT score for dimension C among older migrant patients increased by 0.42 (95% CI: 0.27–0.57) with each increase of CHC PCMH level. Among younger migrant patients, this dimension only increased by 0.09 (95% CI: 0.03–0.16). Conclusion Migrant patients treated at higher-quality CHCs reported better PHC experiences. All observed associations were stronger for older migrants. Our results may inform future healthcare quality improvement studies that focus on the PHC service needs of migrant patients