1.Chinese expert consensus on the diagnosis and treatment of traumatic supraorbital fissure syndrome (version 2024)
Junyu WANG ; Hai JIN ; Danfeng ZHANG ; Rutong YU ; Mingkun YU ; Yijie MA ; Yue MA ; Ning WANG ; Chunhong WANG ; Chunhui WANG ; Qing WANG ; Xinyu WANG ; Xinjun WANG ; Hengli TIAN ; Xinhua TIAN ; Yijun BAO ; Hua FENG ; Wa DA ; Liquan LYU ; Haijun REN ; Jinfang LIU ; Guodong LIU ; Chunhui LIU ; Junwen GUAN ; Rongcai JIANG ; Yiming LI ; Lihong LI ; Zhenxing LI ; Jinglian LI ; Jun YANG ; Chaohua YANG ; Xiao BU ; Xuehai WU ; Li BIE ; Binghui QIU ; Yongming ZHANG ; Qingjiu ZHANG ; Bo ZHANG ; Xiangtong ZHANG ; Rongbin CHEN ; Chao LIN ; Hu JIN ; Weiming ZHENG ; Mingliang ZHAO ; Liang ZHAO ; Rong HU ; Jixin DUAN ; Jiemin YAO ; Hechun XIA ; Ye GU ; Tao QIAN ; Suokai QIAN ; Tao XU ; Guoyi GAO ; Xiaoping TANG ; Qibing HUANG ; Rong FU ; Jun KANG ; Guobiao LIANG ; Kaiwei HAN ; Zhenmin HAN ; Shuo HAN ; Jun PU ; Lijun HENG ; Junji WEI ; Lijun HOU
Chinese Journal of Trauma 2024;40(5):385-396
Traumatic supraorbital fissure syndrome (TSOFS) is a symptom complex caused by nerve entrapment in the supraorbital fissure after skull base trauma. If the compressed cranial nerve in the supraorbital fissure is not decompressed surgically, ptosis, diplopia and eye movement disorder may exist for a long time and seriously affect the patients′ quality of life. Since its overall incidence is not high, it is not familiarized with the majority of neurosurgeons and some TSOFS may be complicated with skull base vascular injury. If the supraorbital fissure surgery is performed without treatment of vascular injury, it may cause massive hemorrhage, and disability and even life-threatening in severe cases. At present, there is no consensus or guideline on the diagnosis and treatment of TSOFS that can be referred to both domestically and internationally. To improve the understanding of TSOFS among clinical physicians and establish standardized diagnosis and treatment plans, the Skull Base Trauma Group of the Neurorepair Professional Committee of the Chinese Medical Doctor Association, Neurotrauma Group of the Neurosurgery Branch of the Chinese Medical Association, Neurotrauma Group of the Traumatology Branch of the Chinese Medical Association, and Editorial Committee of Chinese Journal of Trauma organized relevant experts to formulate Chinese expert consensus on the diagnosis and treatment of traumatic supraorbital fissure syndrome ( version 2024) based on evidence of evidence-based medicine and clinical experience of diagnosis and treatment. This consensus puts forward 12 recommendations on the diagnosis, classification, treatment, efficacy evaluation and follow-up of TSOFS, aiming to provide references for neurosurgeons from hospitals of all levels to standardize the diagnosis and treatment of TSOFS.
2.Efficacy and mechanism of static progressive stretch with different parameters in treatment of stiff knee in rats
Ke CHEN ; Xin ZHANG ; Kai REN ; Hui LIU ; Yingying LIAO ; Chenghong WEN ; Xiaoping SHUI
Chinese Journal of Orthopaedic Trauma 2024;26(3):255-261
Objective:To investigate the efficacy and mechanism of static progressive stretch (SPS) with different parameters in the treatment of stiff knee in rats.Methods:Fifty-six male 8-week SD rats were randomly divided into an operation group ( n=48) and a blank group ( n=8, normal feeding rats without any treatment). The knee joints of the rats in the operation group were fixed with Kirschner wire for 4 weeks to create models of right knee flexion stiffness. The 42 rats with successful modeling were randomly divided into 6 groups ( n=7): the model group was executed and sampled after successful modeling, the spontaneous recovery group was not given any treatment after successful modeling, group T1 was given SPS treatment for 20 min once per day, group T2 was given SPS treatment for 30 min once per day, group T3 was given SPS treatment for 20 min once every 2 days, and group T4 was given SPS treatment for 30 min once every 2 days. After 16 days, the range of knee motion, number of myofibroblasts, and positive proportion of transforming growth factor- β1 (TGF- β1) in the joint capsule were detected and compared between groups. Results:The ranges of knee motion in the spontaneous recovery group and the 4 SPS treatment groups were significantly greater than those before treatment ( P<0.05), and the improvements in the range of knee motion in the 4 SPS treatment groups were significantly greater than that in the spontaneous recovery group ( P<0.05). The range of knee motion in group T2 (112.29°±1.89°) was improved the most significantly. The number of myofibroblasts was (23.72±10.75)/HP, which was significantly smaller than that in T3 group [(55.72±33.56)/HP] or in T4 group [(50.72±33.34)/HP] ( P<0.05). The positive proportions of TGF- β1 in the joint capsule in the 4 SPS treatment groups were significantly lower than that in the model group, and the positive proportion of TGF- β1 in the joint capsule in group T2 (0.51%±0.38%) was significantly lower than those in group T3 and T4 ( P<0.05). Conclusions:As SPS treatment can reduce the expression of TGF- β1 in the joint and inhibit the excessive proliferation of myofibroblasts to alleviate the pathological changes in a stiff knee, it has a significant effect on the stiff knee in rats. The SPS treatment for 30 minutes and once per day may lead to the best efficacy.
3.Application of breakthrough series quality improvement model in preventing blood flow infections related to non-cuffed catheters
Na CHEN ; Yushen REN ; Li TIAN ; Xiaoping WANG ; Yujun WANG ; Yanling SUN ; Hongwen MA ; Xiaohua YUAN
Chinese Journal of Practical Nursing 2024;40(21):1601-1607
Objective:To explore the application effect of breakthrough series (BTS) quality improvement model in the prevention of catheter-related bloodstream infection in hospitalized patients with indwelling non-cuffed catheter (NCC).Methods:Using a non synchronous pre and post control study method, convenience sampling was used to select NCC patients from four hospitals in Tianjin from January to September 2022 who received conventional nursing plans as the control group, and NCC patients from February to October 2023 who received nursing plans based on the BTS quality improvement model as the observation group. Compared the incidence of NCC related bloodstream infections between two groups of patients, the implementation of key preventive measures for NCC related bloodstream infections by nursing staff, and patient satisfaction.Results:Among the 984 patients included in the control group, there were 687 males and 297 females, aged (62.43 ± 13.77) years old; among the 959 patients included in the observation group, there were 651 males and 308 females, aged (61.96 ± 13.89) years old. After applying the improved model, the incidence of NCC related bloodstream infections in the observation group was 0.12‰ (1/8 676), lower than the control group′s 0.71‰ (7/9 827), and the difference was statistically significant ( χ 2=4.37, P<0.05) ;the implementation rate of key measures for preventing NCC related bloodstream infections in the observation group was 90.00% (54/60) for catheter outlet care and 91.67% (55/60) for maximizing sterile barrier, both higher than 70.37% (38/54) and 75.93% (41/54) in the control group, with statistical significance ( χ2=7.03, 5.30, both P<0.05); the total satisfaction rate of patients in the observation group was 92.91% (891/959), which was higher than 58.64% (577/984) in the control group, and the difference was statistically significant ( χ2=15.28, P<0.05). Conclusions:The implementation of BTS quality improvement model is helpful to improve the nursing quality of patients with indwelling NCC dialysis and improve the patient outcomes.
4.An investigation of hepatitis D virus infection among patients with chronic hepatitis B virus infection in some regions of China
Yumei LIU ; Xiaoping GUO ; Huimin ZHANG ; Hongxia BAI ; Chunmei WANG ; Shan REN ; Yongfang JIANG ; Sheng YANG ; Feng PENG ; Xiaozhong WANG ; Lei YU ; Boming LIAO ; Ling NING ; Yingli HE ; Xia YANG ; Liang HUANG ; Xueen LIU ; Hui ZHUANG
Journal of Clinical Hepatology 2023;39(4):795-803
Objective To investigate the prevalence of hepatitis D virus (HDV) infection among patients with chronic hepatitis B virus (HBV) infection in some regions of China. Methods Serum samples were collected from 3 131 patients with chronic HBV infection in 10 provinces, cities, and autonomous regions of China from March 2021 to June 2022, and anti-HDV IgG ELISA was used for the detection of all serum samples. Nested reverse transcription-polymerase chain reaction (nRT-PCR) was used to detect HDV RNA in anti-HDV IgG-positive samples, and the nRT-PCR amplification products of HDV RNA-positive samples were sequenced and analyzed to determine HDV genotype. The clinical features of anti-HDV IgG-positive patients were analyzed. The Mann-Whitney U rank sum test was used for comparison of continuous data between two groups, and the chi-square test or the Fisher's exact test was used for comparison of categorical data between two groups. Results The positive rate of anti-HDV IgG in the 3 131 patients with chronic HBV infection was 0.70% (22/3 131), and that in the patients with chronic HBV infection in Inner Mongolia Autonomous Region, Xinjiang Uygur Autonomous Region, Beijing, and Hunan Province was 1.81% (16/886), 0.88% (2/226), 0.28% (2/708), and 1.00% (2/200), respectively; the patients with chronic HBV infection in Inner Mongolia Autonomous Region had a significantly higher positive rate of anti-HDV IgG than those in Beijing ( P =0.004), and there was no significant difference between the other regions ( P > 0.05). Clinical features of the patients with chronic HBV infection in Inner Mongolia Autonomous Region showed that compared with the anti-HDV IgG-negative group, the anti-HDV IgG-positive group had a significantly higher proportion of patients with Mongol nationality ( P =0.001), abnormal alanine aminotransferase ( P =0.007), or antiviral treatment ( P =0.029), as well as a significantly lower median HBV DNA level ( P =0.030). A total of 19 HDV RNA-positive samples were identified, all of which had HDV genotype 1. Conclusion The prevalence rate of HDV varies greatly across different regions of China, with a higher prevalence rate of HDV in patients with chronic HBV infection from Inner Mongolia Autonomous Region. HDV genotype 1 is the predominant genotype in some provinces and cities of northern China.
5.Genetic testing and clinical analysis of a patient with Dilated cardiomyopathy due to variant of FLNC gene.
Yanlong REN ; Yahui ZHANG ; Xiaoping ZHANG ; Yueli WANG ; Xuxia LIU ; Jin SHENG ; Shangqiu NING ; Wenxian LIU ; Xiaoyan LI
Chinese Journal of Medical Genetics 2023;40(12):1551-1555
OBJECTIVE:
To explore the genetic basis for a patient with Dilated cardiomyopathy.
METHODS:
A patient admitted to Beijing Anzhen Hospital Affiliated to Capital Medical University in April 2022 was selected as the study subject. Clinical data and family history of the patient was collected. Targeted exome sequencing was carried out. Candidate variant was verified by Sanger sequencing and bioinformatic analysis based on guidelines of the American College of Medical Genetics and Genomics (ACMG).
RESULTS:
DNA sequencing revealed that the patient has harbored a heterozygous c.5044dupG frameshift variant of the FLNC gene. Based on the ACMG guidelines, the variant was predicted to be likely pathogenic (PVS1+PM2_Supporting+PP4).
CONCLUSION
The heterozygous c.5044dupG variant of the FLNC gene probably underlay the pathogenesis in this patient, which has provided a basis for the genetic counseling for his family.
Humans
;
Cardiomyopathy, Dilated/genetics*
;
Genetic Testing
;
Genetic Counseling
;
Computational Biology
;
Frameshift Mutation
;
Mutation
;
Filamins
6.Effect of vascularized lymph node transplantation combined with lymphatico-venous anastomosis in the treatment of lymphedema after breast cancer surgery
Rongyu LAN ; Weihua ZHANG ; Linxuan HAN ; Xiaofei WU ; Zhuotan WU ; Jie QIN ; Xiaoping REN
Chinese Journal of Plastic Surgery 2023;39(11):1183-1191
Objective:To investigate the effect of vascularized lymph node transfer (VLNT) combined with lymphatico-venous anastomosis (LVA) in the treatment of lymphedema after breast cancer surgery.Methods:The data of patients with upper limb lymphedema after breast cancer surgery who were treated in the Department of Reconstructive and Reconstructive Microsurgery, Ruikang Hospital Affiliated to Guangxi University of Traditional Chinese Medicine from July 2021 to July 2022 were retrospectively analyzed. According to different treatment methods, the patients were divided into LVA group and VLNT combined LVA group. Indocyanine green (ICG) near-infrared lymphography was performed on all affected limbs before surgery. In the LVA group, according to the results of ICG lymphography, 4 to 5 levels of the affected limb were selected, Z shaped incisions were made and dissescted until the subcutaneous fat layer. End-to-end or end-to-side anastomosis was performed between lymphatic vessels and subcutaneous venules under the microscope. In the VLNT combined LVA group, the branches of brachial artery and vein in the axillary region were marked. The inguinal flap with the superficial iliac circumflex vessel pedicle and 4-5 lymph nodes was dissected. End-to-end anastomoses of the superficial iliac circumflex vessel pedicle with the branches of brachial artery and vein were performed in the axillary region of the affected limb. LVA was performed according to ICG lymphography, the same as in the LVA group. The skin and soft tissue condition of the affected limb and the blood supply of the flap in the VLNT combined LVA group were observed after operation. The circumference of the upper arm (from the wrist to 32 cm above the wrist, every 4 cm, a total of 9 levels of circumference) and upper limb volume were measured before and after operation. SPSS 24.0 was used for data processing and analysis. Measurement data were expressed Mean±SD. The data before and after operation in the same group were compared by paired samples t test, and the comparison between the two groups was conducted by independent samples t test. P<0.05 was considered statistically significant. Results:A total of 14 female patients were enrolled, with 7 patients in each group. All cases were unilateral lymphedema. There were no significant differences in age, stage of disease, limb circumference and limb volume between the two groups before operation ( P>0.05). After operation, the skin and soft tissue condition of the affected limbs were good, and no complications such as erysipelas, cellulitis, or lymphangitis occurred. All flaps in the VLNT combined LVA group survived successfully, and the operation wounds healed well. There were no complications such as infection and necrosis of the flaps. One year after operation, the circumference and volume of the affected limb in the two groups were improved to varying degrees, and the circumference of the affected limb (wrist, upper wrist 4, 8, 12, 16, 20, 24, 28, 32 cm levels) in the VLNT combined LVA group was significantly smaller than that before operation ( P<0.01). In the LVA group, the circumference of the affected limb (wrist, upper wrist 4, 8, 12, 16, 20 cm levels) after operation was significantly smaller than that before operation ( P<0.05). The limb volumes of both groups were significantly reduced ( P<0.05). The comparison between the two groups showed that the reduction degree of postoperative affected limb cricumference (at the levels of 24, 28 and 32 cm above the wrist) and volume in the VLNT combined LVA group were more significant than those in the LVA group ( P<0.05). Conclusion:Compared with LVA alone, VLNT combined with LVA is more effective in the treatment of patients with upper limb lymphedema after breast cancer surgery.
7.Effect of vascularized lymph node transplantation combined with lymphatico-venous anastomosis in the treatment of lymphedema after breast cancer surgery
Rongyu LAN ; Weihua ZHANG ; Linxuan HAN ; Xiaofei WU ; Zhuotan WU ; Jie QIN ; Xiaoping REN
Chinese Journal of Plastic Surgery 2023;39(11):1183-1191
Objective:To investigate the effect of vascularized lymph node transfer (VLNT) combined with lymphatico-venous anastomosis (LVA) in the treatment of lymphedema after breast cancer surgery.Methods:The data of patients with upper limb lymphedema after breast cancer surgery who were treated in the Department of Reconstructive and Reconstructive Microsurgery, Ruikang Hospital Affiliated to Guangxi University of Traditional Chinese Medicine from July 2021 to July 2022 were retrospectively analyzed. According to different treatment methods, the patients were divided into LVA group and VLNT combined LVA group. Indocyanine green (ICG) near-infrared lymphography was performed on all affected limbs before surgery. In the LVA group, according to the results of ICG lymphography, 4 to 5 levels of the affected limb were selected, Z shaped incisions were made and dissescted until the subcutaneous fat layer. End-to-end or end-to-side anastomosis was performed between lymphatic vessels and subcutaneous venules under the microscope. In the VLNT combined LVA group, the branches of brachial artery and vein in the axillary region were marked. The inguinal flap with the superficial iliac circumflex vessel pedicle and 4-5 lymph nodes was dissected. End-to-end anastomoses of the superficial iliac circumflex vessel pedicle with the branches of brachial artery and vein were performed in the axillary region of the affected limb. LVA was performed according to ICG lymphography, the same as in the LVA group. The skin and soft tissue condition of the affected limb and the blood supply of the flap in the VLNT combined LVA group were observed after operation. The circumference of the upper arm (from the wrist to 32 cm above the wrist, every 4 cm, a total of 9 levels of circumference) and upper limb volume were measured before and after operation. SPSS 24.0 was used for data processing and analysis. Measurement data were expressed Mean±SD. The data before and after operation in the same group were compared by paired samples t test, and the comparison between the two groups was conducted by independent samples t test. P<0.05 was considered statistically significant. Results:A total of 14 female patients were enrolled, with 7 patients in each group. All cases were unilateral lymphedema. There were no significant differences in age, stage of disease, limb circumference and limb volume between the two groups before operation ( P>0.05). After operation, the skin and soft tissue condition of the affected limbs were good, and no complications such as erysipelas, cellulitis, or lymphangitis occurred. All flaps in the VLNT combined LVA group survived successfully, and the operation wounds healed well. There were no complications such as infection and necrosis of the flaps. One year after operation, the circumference and volume of the affected limb in the two groups were improved to varying degrees, and the circumference of the affected limb (wrist, upper wrist 4, 8, 12, 16, 20, 24, 28, 32 cm levels) in the VLNT combined LVA group was significantly smaller than that before operation ( P<0.01). In the LVA group, the circumference of the affected limb (wrist, upper wrist 4, 8, 12, 16, 20 cm levels) after operation was significantly smaller than that before operation ( P<0.05). The limb volumes of both groups were significantly reduced ( P<0.05). The comparison between the two groups showed that the reduction degree of postoperative affected limb cricumference (at the levels of 24, 28 and 32 cm above the wrist) and volume in the VLNT combined LVA group were more significant than those in the LVA group ( P<0.05). Conclusion:Compared with LVA alone, VLNT combined with LVA is more effective in the treatment of patients with upper limb lymphedema after breast cancer surgery.
8.Clinical features of patients with severe dengue in Guangdong Province from 2013 to 2019
Wenxin HONG ; Changtai WANG ; Lingzhai ZHAO ; Dongying XIE ; Nan LIU ; Ren CHEN ; Jian WANG ; Yinong YE ; Shuqiang LIN ; Ziwen ZHAO ; Xiaoguang YE ; Jie PENG ; Wenjun GAO ; Huiqin YANG ; Yueping LI ; Linghua LI ; Weiping CAI ; Fuchun ZHANG ; Xiaoping TANG
Chinese Journal of Infectious Diseases 2022;40(6):328-334
Objective:To analyze the clinical features of patients with severe dengue (SD) in Guangdong Province, and to improve the understanding of the diagnosis and treatment of SD in China.Methods:The clinical data, laboratory examination and etiological test results of 257 SD cases from 29 dengue fever designated hospitals in Guangdong Province from January 1, 2013 to December 31, 2019 were respectively collected. The relevant indicators of the criteria for severe organ involvement were quantified. Logistic regression analysis was performed to analyze the risk factors for the development of multiple organ failure in SD patients.Results:Among the 257 SD patients, age was (64.1±20.1) years old, with 65.4%(168/257) of them ≥60 years old, 142 were male and 115 were female. One hundred and fifty-two (59.1%) patients had underlying conditions, including 115(44.7%) patients with hypertension. The clinical manifestations were mainly fever (98.4%(253/257)), fatigue (70.0%(180/257)), cough or expectoration (44.4%(114/257)), lethargy or irritability (39.3%(101/257)), vomiting (30.4%(78/257)), abdominal pain or tenderness (20.6%(53/257)), hepatomegaly (2.3%(6/257)), bleeding tendency (59.5%(153/257)), and pleural effusion or ascites (43.6%(112/257)). Platelet count levels were decreased in 90.9%(231/254) of the cases, and 97.1%(234/241) of patients had normal or decreased hematocrit. The most common of severe manifestations were severe organ involvement (61.1%(157/257)), followed by severe bleeding (37.0%(95/257)) and severe plasma leakage (30.0%(77/257)). Severe organ involvements were more common in the kidney (27.6%(71/257)) and heart (26.8%(69/257)). Multivariate logistic regression analysis showed that age (odds ratio ( OR)=1.051, 95% confidence interval ( CI) 1.004 to 1.100, P=0.035), hypertension ( OR=5.224, 95% CI 1.272 to 21.462, P=0.022), elevated aspartate aminotransferase (AST) level ( OR=1.002, 95% CI 1.001 to 1.003, P=0.001), blood urea nitrogen (BUN) ( OR=1.050, 95% CI 1.005 to 1.098, P=0.030), and international normalized ratio (INR) ( OR=4.604, 95% CI 1.601 to 13.238, P=0.005) were risk factors for the development of multiple organ failure in SD patients. The detection results of serum samples form 113 SD patients in acute phase showed that dengue virus (DENV)-1 accounted for 89.4%(101/113), DENV-2 accounted for 9.7%(11/113), and DENV-3 accounted for 0.9% (1/113). Conclusions:Elderly and those with co-existing conditions such as hypertension in SD patients in Guangdong Province are more common. Severe organ involvement such as kidney and heart is the main cause of SD. DENV-1 infection is predominant. Significant elevated levels of AST, BUN and INR may be related to a poor prognosis.
9.Effects of heat treatment on the bonding strength of pure titanium processed via selective laser melting and porcelain
HU Dandan ; LUO Xiaoping ; REN Canxia
Journal of Prevention and Treatment for Stomatological Diseases 2022;30(8):549-555
Objective:
To evaluate the effect of heat treatment on the bonding strength of pure titanium formed by selective laser melting (SLM) and porcelain.
Methods:
Ninety-six pure titanium specimens were laser machined to meet ISO 9693 standards. The specimens were divided into a heat treated group (A) and a nonheat treated group (B). According to the porcelain type, the specimens in groups A and B were divided into Super Ti22 (a), Titankeramik (b), and Triceram (c) groups. Then, according to sandblasting pressures of 0.25 MPa (1) and 0.45 MPa (2), they were further divided into Aa1, Aa2, Ab1, Ab2, Ac1, Ac2, Ba1, Ba2, Bb1, Bb2, Bc1, and Bc2 groups. The surface morphology and roughness of the sandblasted specimens were assessed using a laser scanning confocal microscope. After the porcelain was fused, the three-point bending titanium-porcelain bonding strength was tested. A stereomicroscope was used to characterize the titanium-porcelain interfaces and determine the mode of failure.
Results:
The Vickers hardness of group A specimens (188.21 ± 11.94) was significantly lower than that of group B specimens (204.48 ± 6.32) HV (P<0.05). The roughness value in group A1 (2.90 ± 0.32) μm was significantly lower than that in group A2 (3.43 ± 0.43) μm (P<0.05). Specimens in group B1 (2.62 ± 0.08) μm were significantly smaller than those in group B2 (3.01 ± 0.06) μm (P<0.05). The bonding strength in group Aa1 was (33.75 ± 2.31) MPa, group Aa2 was (36.32 ± 1.44) MPa, group Ab1 was (39.82 ± 2.28) MPa, group Ab2 was (33.74 ± 1.53) MPa and group Ac2 was (38.63 ± 1.36) MPa, which was significantly higher than that in the corresponding groups Ba1 (29.65 ± 1.10) MPa, Ba2 (27.17 ± 2.24) MPa, Bb1 (27.29 ± 1.61) MPa, Bb2 (23.85 ± 0.97) MPa, and Bc2 (35.75 ± 1.93) MPa (P<0.05). With increasing sandblasting pressure, the bonding strength of the titanium ceramic in group Aa2 was significantly higher than in group Aa1, while that in group Ab2 was significantly lower than that in group Ab1 (P<0.05). In groups A, Bc1 and Bc2, the fracture model showed mixed failure, while in groups Ba1, Ba2, Bb1, and Bb2, the model showed interfacial failure.
Conclusion
The Vickers hardness of SLM titanium can be significantly reduced by heat treatment. SLM pure titanium after heat treatment is beneficial to combination of the three porcelain types and titanium. The titanium-porcelain bonding strength may be affected by sandblasting pressure.
10.Analysis of clinical phenotypes and variants of LDLR gene in two Chinese patients with familial hypercholesterolemia.
Kexin WANG ; Tao SUN ; Xiaoping ZHANG ; Yahui ZHANG ; Hai GAO ; Yanlong REN ; Xiaoyan LI
Chinese Journal of Medical Genetics 2022;39(12):1344-1348
OBJECTIVE:
To explore the correlation between clinical phenotypes and pathogenic variants in two patients with familial hypercholesterolemia.
METHODS:
Both patients were subjected to whole exome sequencing (WES) with a focus on the analysis of genes associated with dyslipidemia. Candidate variants were verified by Sanger sequencing of the patients and their family members.
RESULTS:
WES revealed that the proband 1 has harbored two heterozygous variants of the LDLR gene, namely c.1360G>A (p.D454N) and c.292G>A (p.G98S), whilst proband 2 has harbored a heterozygous c.321T>G (p.C107W) variant of the LDLR gene. Based on the guidelines from the American College of Medical Genetic and Genomics (ACMG), the above variants were respectively predicted to be likely pathogenic (PM1+PM2+PP2+PP3+PP4+PP5), variant of unknown significance (PM1+PP2+PP3), and likely pathogenic (PM1+PM2+PP2+PP4+PP5). Treatment with PCSK9 inhibitor has attained a significant effect in proband 1 but no apparent effect in proband 2.
CONCLUSION
Variants of the LDLR gene probably underlay the familial hypercholesterolemia in the two pedigrees. The difference in the severity of the clinical phenotypes and response to PCSK9 inhibitor treatment between the two probands may be attributed to the different genotypes of the LDLR gene. Genetic testing not only can provide a basis for clinical diagnosis, but also facilitate the choice of lipid-lowering drugs.
Humans
;
China
;
Hyperlipoproteinemia Type II/genetics*
;
Phenotype
;
Receptors, LDL/genetics*


Result Analysis
Print
Save
E-mail