Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Objective To investigate the difference of matrix stiffness in different regions of tibial plateau in osteoarthritis (OA) and its effects on morphology of the cartilage and mitochondria. Methods The tibial plateau cartilage specimens of OA were obtained for nanoindentation test, transmission electron microscopy and histological analysis. The stiffness of cartilage matrix in different regions of OA tibial plateau was detected by nano-indentation. The morphology of cartilage mitochondria in different regions was observed by transmission electron microscopy, and the changes of mitochondrial plane area, shape and ridge volume density were quantitatively analyzed. Cartilage injury in different regions of OA tibial plateau was observed by histological staining. Results The cartilage of OA tibial plateau showed regional heterogeneity, and the cartilage and mitochondria on medial side of varus knee OA were more severe, and the matrix stiffness was higher. The OA scores were positively correlated with matrix stiffness. There was also a significant correlation between OA scores and mitochondrial morphology: the higher OA scores, the larger and rounder mitochondrial plane area, and the lower cristae volume density. Conclusions The differences of tibial plateau revealed the correlation between cartilage matrix stiffness, OA scores and mitochondrial morphological parameters. The increased cartilage matrix stiffness may be the main cause of chondrocyte mitochondrial injury, and further aggravate the progression of OA.

Abstract: Objective To investigate the impact of SARS-CoV-2 virus infection on the risk of thrombosis in COVID-19 outpatient patients with mild and regular symptoms. Methods Outpatient patients during the SARS-CoV-2 large-scale infection period after the policy adjustment for COVID-19 in Beijing in 2022 were selected as the observation group, and the dynamic zero-clearing period before the policy adjustment and outpatient patients during the 2022/2021/2020 period were taken as the three control groups. The patients with physiological factors that may increase the risk of coagulation, such as thrombotic diseases, malignant tumors, female pregnancy and other physiological factors, were excluded. Pediatric patients under 14 years old were also excluded. Age was expressed as median (interquartile). The changes in blood routine, fibrin/fibrinogen degradation products, and D-Dimer in Beijing outpatient patients were studied with statistical method and data analysis techniques. Results Compared with the control groups, the observation group showed a statistically significant decrease in red blood cells (RBC), hemoglobin (Hb), and hematocrit (HCT) levels, and an increase in monocytes (MONO) and platelet (PLT) counts, all showed statistically significant differences (P<0.0001). The proportion of fibrinogen degradation product (FDP) and D-Dimer of observation group exceeding the range increased significantly. Compared with the three control groups, the number of outpatient fibrinogen degradation products (FDP) in the observation group of patients aged 50 years and verage number of patients under 50 years old in the observation group with D-Dimer exceeding the threshold increased by more than 48.98%, and the monthly average number of patients with D-Dimer exceeding the threshold in patients aged 50 or older increased by 346%-998%. Conclusions The results of this study suggest that outpatient patients with mild or regular SARS-CoV-2 infection are also at risk for thrombotic events, and monitoring blood coagulation indicators such as D-dimer is recommended to avoid the sudden onset of thrombosis-related fatal complications .

Humans ; Autistic Disorder ; China/epidemiology* ; Cohort Studies ; Autism Spectrum Disorder/genetics* ; Asian People

Objective:To explore the application effect of perforator pedicle flap in the wound repair after resection of the medium and large-sized keloids in the trunk.Methods:From January 2018 to January 2019, 10 patients, aged from 20 to 53 years old, with medium and large-sized keloids in the trunk were treated, including 3 cases in the anterior chest, 3 cases in the umbilical region, 4 cases in the lower abdomen, 8 cases were women and 2 cases were men. The size of keloids were 2.0 cm×3.0 cm to 5.0 cm×9.0 cm, and all keloids were accompanied with infection. Scars and infected tissues were removed and contracture was released completely. Pedicled flaps with intercostal perforator artery(3 cases), paraumbilical perforator artery(3 cases) or groin perforator artery(4 cases) were elevated and advanced or rotated to cover the wound. Early radiotherapy was delivered to the scar bed 5-10 Gy each time with a total dose of 15 to 20 Gy over 3 daily fractions after surgery. And other treatments, such as topical silicone gel, corticosteroid intralesional injection and elastic clothing compression were taken as adjuvant therapy. The scars were assessed by the Vancouver Scar Scale, and local morphology, hair distribution, itching, pain and patient satisfaction were analyzed and evaluated after 12 months to 24 months follow-up.Results:All flaps survived and the incisions healed primarily. The local morphology and hair distribution were normal, and the itching and pain were relieved obviously. The Vancouver Scar Scale scores vary from 1 to 6 in 9 patients. Incision hypertrophic scar with the Vancouver Scar Scale score of 9 occurred in one noncompliance patient who didn’t follow up on time and refuse to take the adjuvant treatments. 8 patients were extremely satisfied with the treatment effect, and 2 patients were satisfied with the treatment effect.Conclusions:For medium and large-sized keloids in the trunk, combined modality therapy, including local perforator pedicled flaps transplantation, early radiotherapy, topical silicone gel, elastic compression and etc, will achieve satisfied clinical effects.

Objective:To explore the application effect of perforator pedicle flap in the wound repair after resection of the medium and large-sized keloids in the trunk.Methods:From January 2018 to January 2019, 10 patients, aged from 20 to 53 years old, with medium and large-sized keloids in the trunk were treated, including 3 cases in the anterior chest, 3 cases in the umbilical region, 4 cases in the lower abdomen, 8 cases were women and 2 cases were men. The size of keloids were 2.0 cm×3.0 cm to 5.0 cm×9.0 cm, and all keloids were accompanied with infection. Scars and infected tissues were removed and contracture was released completely. Pedicled flaps with intercostal perforator artery(3 cases), paraumbilical perforator artery(3 cases) or groin perforator artery(4 cases) were elevated and advanced or rotated to cover the wound. Early radiotherapy was delivered to the scar bed 5-10 Gy each time with a total dose of 15 to 20 Gy over 3 daily fractions after surgery. And other treatments, such as topical silicone gel, corticosteroid intralesional injection and elastic clothing compression were taken as adjuvant therapy. The scars were assessed by the Vancouver Scar Scale, and local morphology, hair distribution, itching, pain and patient satisfaction were analyzed and evaluated after 12 months to 24 months follow-up.Results:All flaps survived and the incisions healed primarily. The local morphology and hair distribution were normal, and the itching and pain were relieved obviously. The Vancouver Scar Scale scores vary from 1 to 6 in 9 patients. Incision hypertrophic scar with the Vancouver Scar Scale score of 9 occurred in one noncompliance patient who didn’t follow up on time and refuse to take the adjuvant treatments. 8 patients were extremely satisfied with the treatment effect, and 2 patients were satisfied with the treatment effect.Conclusions:For medium and large-sized keloids in the trunk, combined modality therapy, including local perforator pedicled flaps transplantation, early radiotherapy, topical silicone gel, elastic compression and etc, will achieve satisfied clinical effects.

Objective To explore job satisfaction degrees and the influencing factors among community nurses. Method General information questionnaire and the revised job satisfaction questionnaire were adopted in the investigation among 124 nurses from 28 community health service centers in Nanchong City between February to October 2016. Results The total score was (119.62 ± 15.37), at the moderate to high level. Of the eight dimensions, relationship with colleagues was scored the highest, and personal growth was the lowest. The influencing factors of the nurse's job satisfaction were found to be employment type, work positions, service duration in the community and whether they have been trained on community nursing position (all P<0.05). Conclusions The job satisfaction degree of community nurses is generally at middle level. Therefore, measures should be taken to improve the job satisfaction for the development of community nursing services.