OBJECTIVE: To explore the genetic basis of a patient suspected for Loeys-Dietz syndrome (LDS). METHODS: A adult male patient with aneurysmal dilation of the aortic root identified during the treatment for chronic myeloid leukemia at Anzhen Hospital of Capital Medical University in 2021 was selected as the study subject. Clinical data of the patient were retrospectively collected. Peripheral blood samples were collected from the patient and his family members and subjected to whole-exome sequencing (WES). Candidate variant was verified by bioinformatic analysis, with a focus on the genes associated with hereditary aortic aneurysms. Candidate variant was validated by Sanger sequencing. The online SpliceAI software was used for the prediction of protein function. The results, combined with information from public databases, were used to classify the pathogenicity of the candidate variant according to the guidelines from the American College of Medical Genetics and Genomics (ACMG). This study was approved by the Ethics Committee of Beijing Anzhen Hospital (Ethics No. 2023163X). RESULTS: Imaging analysis revealed that the patient had aneurysmal dilation of the aortic root. Based on his clinical features and past history, a provisional diagnosis of LDS was established. WES revealed that the patient had harbored a heterozygous splice site variant c.206+2T>G in the SMAD3 gene (NM_005902). The variant was not reported in public databases and was predicted to be pathogenic by SpliceAI. Sanger sequencing showed that the variant was also present in the proband's mother, sister, nephew, and daughter, but not in his father. Based on the guidelines from the ACMG, the variant was classified as likely pathogenic (PVS1+PM2_Supporting). CONCLUSION The heterozygous splice site variant c.206+2T>G of the SMAD3 gene probably underlay the disease in this patient. Above discovery has enriched the mutational spectrum of LDS, which may facilitate delineation of the genotype-phenotype correlation and provide a basis for further risk stratification and personalized treatment of LDS.
Adult ; Humans ; Male ; Exome Sequencing ; Loeys-Dietz Syndrome/genetics* ; Mutation ; Pedigree ; Smad3 Protein/genetics*

Objective:To analyse the pathogenicity of a family with Fabry disease and to characterise its clinical phenotype and genetic variants.Methods:A proband with Fabry disease admitted to Beijing Anzhen Hospital, Capital Medical University in December 2021 was enrolled. Clinical data, including medical history, biochemical parameters, echocardiography, and electrocardiogram, were collected from the proband and family members. The proband and his daughter underwent α-galactosidase A (α-Gal A) enzyme activity assay and Sanger sequencing of the GLA gene. Candidate variants were analyzed and classified according to the American College of Medical Genetics and Genomics guidelines.Results:The male proband (69 years old) presented with chronic renal insufficiency, electrocardiogram findings of ST-T changes, bundle branch block, and left ventricular high voltage, and echocardiographic evidence of left ventricular hypertrophy. His α-Gal A activity was markedly reduced, and genetic testing identified a hemizygous GLA c.511G>C (p.Gly171Arg) variant on the X chromosome. The proband′s asymptomatic daughter also exhibited significantly decreased α-Gal A activity and carried the heterozygous GLA c.511G>C (p.Gly171Arg) variant. Based on the American College of Medical Genetics and Genomics guidelines, this variant was classified as “likely pathogenic” and considered the underlying cause of Fabry disease in this family.Conclusion:The proband manifested chronic renal insufficiency and cardiac hypertrophy, with the GLA c.511G>C (p.Gly171Arg) variant identified as the likely-pathogenic cause of Fabry disease in this family.

Objective To identify the most significantly compressed areas and the areas with the best recovery effects by analyzing the changes in vertebral height after percutaneous vertebroplasty(PVP)in patients with osteoporotic vertebral compression fractures(OVCF)through lateral radiographs.Methods A retrospective analysis was conducted on the lateral X-rays of 186 injured vertebrae from 142 patients hospitalized in our hospital's intervertebral disc center.The sagittal height of the vertebrae was measured at five different points before and after surgery,and the collected data were statistically analyzed using SPSS software.Results There were statistically significant differences in the heights of the five measured points before and after surgery within OVCF injured vertebrae(P＜0.05),in the ascending order:central＜mid-anterior＜mid-posterior＜anterior edge＜posterior edge.Comparison of the height parameters of the five measured points before and after surgery showed statistically significant differences(P＜0.01).In comparing the height restoration differences of the five measured points after PVP,the differences between central and mid-anterior,central and anterior edge,and mid-posterior and anterior edge were found not to be statistically significant(P＞0.05).The differences in height restoration for the remaining groups were statistically significant(P＜0.05),with the height restoration differences from highest to lowest being:mid-anterior,central,anterior edge,mid-posterior,posterior edge.Conclusion In patients with OVCF,the compression of the injured vertebra is most pronounced in the central part,followed by the mid-anterior part.PVP surgery can effectively restore the height of various parts of the injured vertebra,especially in the mid-anterior and central parts of the vertebral body,where the recovery effect is particularly significant.

Objective:To explore the clinical treatment principles for tibial plateau fracture related infection (TPFRI).Methods:A retrospective study was used to analyze the clinical data of 47 patients with TPFRI who had been admitted to The Third Hospital of Hebei Medical University from May 2015 to May 2022. There were 33 males and 14 females, with an age of (49.3±9.5) years. By admission, 32 tibial plateau fractures got healed while 15 ones remained unhealed. According to the site of infection, TPFRI was classified into 3 categories: arthritic type (9 cases), adjacent articular type (28 cases), and distal articular type (10 cases). Individualized reconstruction plans were made according to fracture union, bone and soft tissue defects, and infection involvement of the knee joint. The knee function was assessed by the modified Hospital for Special Surgery (HSS) criteria at the final follow-up. The fracture union and complications were recorded.Results:All patients were followed up for (37.4±11.7) months. The infection was controlled and the fractures got united after (4.6±1.4) months in the 15 patients whose tibial plateau fractures remained unhealed by admission. In the 32 cases whose tibial plateau fractures got healed by admission (except for the 7 cases without bone defects, 1 case undergoing femoral condyle amputation and 1 case undergoing tibial flip amputation), respectively, Masquelet technique was used in 5 cases, Ilizarov bone transport in 3 cases, filling with an astrocnemius muscle flap or a myocutaneous flap in 5 cases, semi-open bone grafting in 1 case, open bone cement rod technique in 1 case, platelet-rich plasma combined with negative pressure drainage in 1 case, and knee arthrodesis in 7 cases to reconstruct their bone and soft tissue defects. At the final follow-up, the knee function was evaluated based on the modified HSS scoring as excellent in 28 cases, as good in 15 cases, as moderate in 3 cases and as poor in 1 case. The number of the patients with excellent or good knee function was significantly larger in the adjacent articular type and distal articular type than in the arthritic type ( P<0.05). The number of the patients with excellent or good knee function was significantly larger in those whose tibial plateau fractures remained unhealed by admission than in those whose tibial plateau fractures got healed by admission ( P<0.05). All patients did not experience such complications as open fat liquefaction, bone nonunion, lower limb deep vein thrombosis, or pulmonary embolism. Conclusions:In the treatment of TPFRI, individualized treatment plans should be made to improve infection control, accelerate functional recovery of the knee joint, and reduce incidence of complications, taking into consideration such factors as fracture union, bone and soft tissue defects, and infection involvement of the knee joint.

Objective:To explore the genetic basis of a patient suspected for Loeys-Dietz syndrome (LDS).Methods:An adult male patient with aneurysmal dilation of the aortic root identified during the treatment for chronic myeloid leukemia at Anzhen Hospital of Capital Medical University in 2021 was enrolled as the study subject. Clinical data of the patient were retrospectively collected. Peripheral blood samples were collected from the patient and his family members and subjected to whole-exome sequencing (WES). Candidate variant was verified by bioinformatic analysis, with a focus on the genes associated with hereditary aortic aneurysms. Candidate variant was validated by Sanger sequencing. The online SpliceAI software was used for the prediction of protein function. The results, combined with information from public databases, were used to classify the pathogenicity of the candidate variant according to the guidelines from the American College of Medical Genetics and Genomics (ACMG). This study was approved by the Ethics Committee of Beijing Anzhen Hospital (Ethics No. 2023163X).Results:Imaging analysis revealed that the patient had aneurysmal dilation of the aortic root. Based on his clinical features and past history, a provisional diagnosis of LDS was established. WES revealed that the patient had harbored a heterozygous splice site variant c. 206+ 2T>G in the SMAD3 gene (NM_005902). The variant was not reported in public databases and was predicted to be pathogenic by SpliceAI. Sanger sequencing showed that the variant was also present in the patients mother, sister, nephew, and daughter, but not in his father. Based on the guidelines from the ACMG, the variant was classified as likely pathogenic (PVS1+ PM2_Supporting). Conclusion:The heterozygous splice site variant c. 206+ 2T>G of the SMAD3 gene probably underlay the disease of this patient. The discovery has enriched the mutational spectrum of LDS, which may facilitate delineation of the genotype-phenotype correlation and provide a basis for further risk stratification and personalized treatment of LDS.

Objective To analyze the urban drinking water quality and its influencing factors in Anhui Province from 2014 to 2022, and to provide a scientific basis for water quality improvement and protection. Methods The data were collected, saved and monitored according to the Standard Test Method for Drinking Water (GB/T5750-2006) and evaluated according to the Hygienic Standard for Drinking Water (GB 5749-2006). Results A total of 20 941 samples were collected, and the overall qualified rate was 84.26%. The qualified rate of urban drinking water increased from 76.9% in 2014 to 93.3% in 2022, and the qualified rate of water quality was on the rise (χ²=544.43, P＜0.01). From 2014 to 2022, the qualified rate of water quality in dry season was higher than that in wet season (χ²=35.98, P<0.001), the qualified rate of surface water was higher than that of ground water (χ²=4440.8, P<0.001), and the qualified rate of peripheral tap water was higher than that of factory water (χ²=145.1, P<0.001). Among all kinds of disinfection methods, chlorination disinfection had the highest qualified rate (χ²=1483.8, P<0.001). The qualified rate of water quality increased with the increase of the scale of water plant. Among the inspected indicators, the main unqualified indicators were chlorine dioxide (7.72%), fluoride (7.41%), free residual chlorine (3.90%), and total bacterial count (2.13%). Conclusion The passing rate of urban drinking water quality in Anhui Province is on an upward trend, and the quality of urban drinking water has improved. However, it is still important to pay attention to the problem of excessive microorganism and fluoride in water, and the quality of drinking water varies from place to place.

Objective To identify the most significantly compressed areas and the areas with the best recovery effects by analyzing the changes in vertebral height after percutaneous vertebroplasty(PVP)in patients with osteoporotic vertebral compression fractures(OVCF)through lateral radiographs.Methods A retrospective analysis was conducted on the lateral X-rays of 186 injured vertebrae from 142 patients hospitalized in our hospital's intervertebral disc center.The sagittal height of the vertebrae was measured at five different points before and after surgery,and the collected data were statistically analyzed using SPSS software.Results There were statistically significant differences in the heights of the five measured points before and after surgery within OVCF injured vertebrae(P＜0.05),in the ascending order:central＜mid-anterior＜mid-posterior＜anterior edge＜posterior edge.Comparison of the height parameters of the five measured points before and after surgery showed statistically significant differences(P＜0.01).In comparing the height restoration differences of the five measured points after PVP,the differences between central and mid-anterior,central and anterior edge,and mid-posterior and anterior edge were found not to be statistically significant(P＞0.05).The differences in height restoration for the remaining groups were statistically significant(P＜0.05),with the height restoration differences from highest to lowest being:mid-anterior,central,anterior edge,mid-posterior,posterior edge.Conclusion In patients with OVCF,the compression of the injured vertebra is most pronounced in the central part,followed by the mid-anterior part.PVP surgery can effectively restore the height of various parts of the injured vertebra,especially in the mid-anterior and central parts of the vertebral body,where the recovery effect is particularly significant.

Objective:To explore the genetic basis of a patient suspected for Loeys-Dietz syndrome (LDS).Methods:An adult male patient with aneurysmal dilation of the aortic root identified during the treatment for chronic myeloid leukemia at Anzhen Hospital of Capital Medical University in 2021 was enrolled as the study subject. Clinical data of the patient were retrospectively collected. Peripheral blood samples were collected from the patient and his family members and subjected to whole-exome sequencing (WES). Candidate variant was verified by bioinformatic analysis, with a focus on the genes associated with hereditary aortic aneurysms. Candidate variant was validated by Sanger sequencing. The online SpliceAI software was used for the prediction of protein function. The results, combined with information from public databases, were used to classify the pathogenicity of the candidate variant according to the guidelines from the American College of Medical Genetics and Genomics (ACMG). This study was approved by the Ethics Committee of Beijing Anzhen Hospital (Ethics No. 2023163X).Results:Imaging analysis revealed that the patient had aneurysmal dilation of the aortic root. Based on his clinical features and past history, a provisional diagnosis of LDS was established. WES revealed that the patient had harbored a heterozygous splice site variant c. 206+ 2T>G in the SMAD3 gene (NM_005902). The variant was not reported in public databases and was predicted to be pathogenic by SpliceAI. Sanger sequencing showed that the variant was also present in the patients mother, sister, nephew, and daughter, but not in his father. Based on the guidelines from the ACMG, the variant was classified as likely pathogenic (PVS1+ PM2_Supporting). Conclusion:The heterozygous splice site variant c. 206+ 2T>G of the SMAD3 gene probably underlay the disease of this patient. The discovery has enriched the mutational spectrum of LDS, which may facilitate delineation of the genotype-phenotype correlation and provide a basis for further risk stratification and personalized treatment of LDS.

Objective:To explore the clinical treatment principles for tibial plateau fracture related infection (TPFRI).Methods:A retrospective study was used to analyze the clinical data of 47 patients with TPFRI who had been admitted to The Third Hospital of Hebei Medical University from May 2015 to May 2022. There were 33 males and 14 females, with an age of (49.3±9.5) years. By admission, 32 tibial plateau fractures got healed while 15 ones remained unhealed. According to the site of infection, TPFRI was classified into 3 categories: arthritic type (9 cases), adjacent articular type (28 cases), and distal articular type (10 cases). Individualized reconstruction plans were made according to fracture union, bone and soft tissue defects, and infection involvement of the knee joint. The knee function was assessed by the modified Hospital for Special Surgery (HSS) criteria at the final follow-up. The fracture union and complications were recorded.Results:All patients were followed up for (37.4±11.7) months. The infection was controlled and the fractures got united after (4.6±1.4) months in the 15 patients whose tibial plateau fractures remained unhealed by admission. In the 32 cases whose tibial plateau fractures got healed by admission (except for the 7 cases without bone defects, 1 case undergoing femoral condyle amputation and 1 case undergoing tibial flip amputation), respectively, Masquelet technique was used in 5 cases, Ilizarov bone transport in 3 cases, filling with an astrocnemius muscle flap or a myocutaneous flap in 5 cases, semi-open bone grafting in 1 case, open bone cement rod technique in 1 case, platelet-rich plasma combined with negative pressure drainage in 1 case, and knee arthrodesis in 7 cases to reconstruct their bone and soft tissue defects. At the final follow-up, the knee function was evaluated based on the modified HSS scoring as excellent in 28 cases, as good in 15 cases, as moderate in 3 cases and as poor in 1 case. The number of the patients with excellent or good knee function was significantly larger in the adjacent articular type and distal articular type than in the arthritic type ( P<0.05). The number of the patients with excellent or good knee function was significantly larger in those whose tibial plateau fractures remained unhealed by admission than in those whose tibial plateau fractures got healed by admission ( P<0.05). All patients did not experience such complications as open fat liquefaction, bone nonunion, lower limb deep vein thrombosis, or pulmonary embolism. Conclusions:In the treatment of TPFRI, individualized treatment plans should be made to improve infection control, accelerate functional recovery of the knee joint, and reduce incidence of complications, taking into consideration such factors as fracture union, bone and soft tissue defects, and infection involvement of the knee joint.

Objective:To analyse the pathogenicity of a family with Fabry disease and to characterise its clinical phenotype and genetic variants.Methods:A proband with Fabry disease admitted to Beijing Anzhen Hospital, Capital Medical University in December 2021 was enrolled. Clinical data, including medical history, biochemical parameters, echocardiography, and electrocardiogram, were collected from the proband and family members. The proband and his daughter underwent α-galactosidase A (α-Gal A) enzyme activity assay and Sanger sequencing of the GLA gene. Candidate variants were analyzed and classified according to the American College of Medical Genetics and Genomics guidelines.Results:The male proband (69 years old) presented with chronic renal insufficiency, electrocardiogram findings of ST-T changes, bundle branch block, and left ventricular high voltage, and echocardiographic evidence of left ventricular hypertrophy. His α-Gal A activity was markedly reduced, and genetic testing identified a hemizygous GLA c.511G>C (p.Gly171Arg) variant on the X chromosome. The proband′s asymptomatic daughter also exhibited significantly decreased α-Gal A activity and carried the heterozygous GLA c.511G>C (p.Gly171Arg) variant. Based on the American College of Medical Genetics and Genomics guidelines, this variant was classified as “likely pathogenic” and considered the underlying cause of Fabry disease in this family.Conclusion:The proband manifested chronic renal insufficiency and cardiac hypertrophy, with the GLA c.511G>C (p.Gly171Arg) variant identified as the likely-pathogenic cause of Fabry disease in this family.