1.Clinicopathologic characteristics,gene mutation profile and prognostic analysis of thyroid diffuse large B-cell lymphoma
Zhishan DU ; Yue WANG ; Ziyang SHI ; Qing SHI ; Hongmei YI ; Lei DONG ; Li WANG ; Shu CHENG ; Pengpeng XU ; Weili ZHAO
Journal of Shanghai Jiaotong University(Medical Science) 2024;44(1):64-71
Objective·To analyze the clinicopathologic characteristics,gene mutation profile,and prognostic factors of thyroid diffuse large B-cell lymphoma(DLBCL).Methods·From November 2003 to December 2021,a total of 66 patients with thyroid DLBCL[23 cases(34.8%)with primary thyroid DLBCL,and 43 cases(65.2%)with secondary thyroid DLBCL]admitted to Ruijin Hospital,Shanghai Jiao Tong University School of Medicine were retrospectively analyzed for their clinicopathological data,survival and prognostic factors.Gene mutation profiles were evaluated by targeted sequencing(55 lymphoma-related genes)in 40 patients.Results·Compared to primary thyroid DLBCL,secondary thyroid DLBCL had advanced ratio of Ann Arbor stage Ⅲ?Ⅳ(P=0.000),elevated serum lactate dehydrogenase(LDH)(P=0.043),number of affected extranodal involvement≥2(P=0.000),non-germinal center B cell(non-GCB)(P=0.030),BCL-2/MYC double expression(DE)(P=0.026),and international prognostic index(IPI)3?5-scores(P=0.000).The proportion of patients who underwent thyroid surgery(P=0.012)was lower than that of patients with primary thyroid DLBCL.The complete remission(CR)rate in primary thyroid DLBCL patients was higher than that in secondary thyroid DLBCL patients(P=0.039).Fifty-five patients(83%)received rituximab combined with cyclophosphamide,doxorubicin,vincristine,and prednisone(R-CHOP)-based first-line regimen.The estimated 5-year progression free survival(PFS)rate of primary thyroid DLBCL patients was 95.0%,higher than the 49.7%of the secondary patients(P=0.010).Univariate analysis showed that Ann Arbor Ⅲ?Ⅳ(HR=4.411,95%CI 1.373?14.170),elevated LDH(HR=5.500,95%CI 1.519?19.911),non-GCB(HR= 5.291,95%CI 1.667?16.788),and DE(HR=6.178,95%CI 1.813?21.058)were adverse prognostic factors of PFS in patients with thyroid DLBCL.Ann Arbor Ⅲ?Ⅳ(HR=7.088,95%CI 0.827?60.717),elevated LDH(HR=6.982,95%CI 0.809?60.266),and DE(HR=18.079,95%CI 1.837?177.923)were adverse prognostic factors of overall survival(OS).Multivariate analysis showed that Ann Arbor Ⅲ?Ⅳ(HR=4.693,95%CI 1.218?18.081)and elevated LDH(HR=5.058,95%CI 1.166?21.941)were independent adverse prognostic factors of PFS in patients with thyroid DLBCL.Targeted sequencing data showed mutation frequency>20%in TET2(n=14,35%),KMT2D(n=13,32%),TP53(n=11,28%),GNA13(n=10,25%),KMT2C(n=9,22%),and TP53 were adverse prognostic factors of PFS in patients with thyroid DLBCL(P=0.000).Conclusion·Patients with primary thyroid DLBCL have better PFS and OS than those with secondary thyroid DLBCL.Ann Arbor Ⅲ?Ⅳ,elevated LDH,non-GCB,and DE(MYC and BCL2)are adverse prognostic factors in thyroid DLBCL.TET2,KMT2D,TP53,GNA13,and KMT2C are commonly highly mutated genes in thyroid DLBCL,and the prognosis of patients with TP53 mutations is poor.
2.Repair strategy of chest radiation ulcer after radical mastectomy for breast cancer and its clinical effect
Weili DU ; Yuming SHEN ; Lin CHENG ; Qiang DAI ; Kexin CHE
Chinese Journal of Burns 2024;40(6):521-528
Objective:To explore the repair strategy of chest radiation ulcer after radical mastectomy for breast cancer and its clinical effect.Methods:The study was a retrospective observational study. From September 2020 to September 2023, 27 female patients (aged 37-83 years) with chest radiation ulcers after radical mastectomy for breast cancer who met the inclusion criteria were admitted to Beijing Jishuitan Hospital Affiliated to Capital Medical University, of which 7 patients developed significant pain in the chest region. Various examinations were completed to accurately assess the presence of tumors and depth of radiation ulcers. After tumor recurrence was ruled out, the ulcer wounds were thoroughly debrided (the wound size after debridement was 8 cm×7 cm to 18 cm×18 cm). At the same time, pathological examination of the wound tissue and bacterial culture of the wound tissue/exudate samples were performed. The wound repair surgery was performed at the same time after debridement or one week after vacuum sealing drainage (VSD) treatment. Based on the location and size of the wound, the age and overall condition of the patient, as well as the principle of minimizing damage to the donor site, the most suitable tissue flap was selected to repair the wound. The donor site wound was transplanted with a split-thickness skin graft or sutured together. The level and tissue structure of radiation injury, and the type and size of transplanted tissue flap were recorded. The results of postoperative pathological examination of wound tissue and bacterial culture of wound tissue/exudate samples, pain relief, survival of tissue flap, and wound healing were recorded. During the follow-up, the shape of the tissue flap, whether the ulcer recurred, the wound healing of the donor site, and whether the abdominal wall hernia occurred in the donor site of the rectus abdominis myocutaneous flap were observed.Results:Radiation injury involved ribs and costal cartilage in 21 cases, ribs, sternum, and clavicle in 4 cases, and clavicle and subclavian artery in 2 cases. Twelve patients were transplanted with rectus abdominis myocutaneous flap, eight patients with latissimus dorsi myocutaneous flap, three patients with internal thoracic artery perforator flap, three patients with superior epigastric artery perforator flap, and one patient with free deep inferior epigastric perforator flap. The size of tissue flap was 14 cm×8 cm to 20 cm×20 cm. After surgery, no tumor component was found in the pathological examination of wound tissue; 25 patients were positive and 2 patients were negative in bacterial culture results of wound tissue/exudate samples; the pain of 7 patients was completely relieved. The tissue flaps of 25 patients survived completely after surgery, and the wounds healed. Two patients had partial necrosis at the tip of the rectus abdominis myocutaneous flap, which healed after debridement and tissue flap repair. The patients were followed up for 6 months to 2 years. The appearance of the tissue flaps was good, and no ulcer recurred. The linear scar was left on the donor site, and no abdominal wall hernia occurred in the donor site of the rectus abdominis myocutaneous flap.Conclusions:Thorough debridement and VSD treatment after accurate assessment of the extent of damage, and the selection of appropriate tissue flap to repair the wound based on the patient's general condition, the wound characteristics, and the principle of minimizing damage to the donor site are good repair strategies for the chest radiation ulcers after radical mastectomy for breast cancer. By using the strategies, the wounds could be closed as soon as possible, preventing ulcer recurrence and having a good prognosis.
3.Clinical effects of chimeric perforator flaps in repairing wounds with bone or internal fixation exposure and wounds with osteomyelitis
Lin CHENG ; Xianqi LIU ; Weili DU ; Qiang DAI ; Kexin CHE ; Yuming SHEN
Chinese Journal of Burns 2024;40(7):643-649
Objective:To explore the clinical effects of chimeric perforator flaps in repairing wounds with bone or internal fixation exposure and wounds with osteomyelitis.Methods:This study was a retrospective observational study. From January 2018 to December 2022, 20 patients with wounds with bone or internal fixation exposure and wounds with osteomyelitis who met the inclusion criteria were admitted to Beijing Jishuitan Hospital Affiliated to Capital Medical University, including 19 males and 1 female, aged from 21 to 73 years. Among the 21 wounds, there were 5 wounds with bone exposure, 12 wounds with osteomyelitis, and 4 wounds with internal fixation exposure. After the debridement in the first stage, the wound area was 6 cm×3 cm to 22 cm×10 cm. Then vacuum sealing drainage was carried out for 5 to 7 days. In the second stage, the wounds were covered with pedicled chimeric medial sural artery perforator flap, pedicled chimeric posterior tibialis artery perforator flap, free chimeric perforator flap pedicled with descending branch of lateral circumflex femoral artery, free chimeric medial sural artery perforator flap or free chimeric deep circumflex iliac artery perforator flap with incision area of 7 cm×5 cm to 25 cm×12 cm. The chimeric muscle flap was used to fill and cover irregular deep cavities. The wounds in the flap donor sites were sutured directly or repaired with medium-thickness skin grafts from the thigh. The survival of flap and the healing of wound in flap donor site were observed after operation. The recurrence of infection was followed up.Results:Among the 18 free chimeric perforator flaps, 16 flaps survived successfully; one flap experienced a venous crisis on the day of surgery and survived completely after emergency exploration and re-anastomosis; another one flap had partial distal necrosis, which healed after dressing changes. All the wounds in the flap donor sites healed evenly. All 3 pedicled chimeric perforator flaps survived; one of them developed sub-flap infection but healed after debridement and bone cement placement. The wound in the donor site of 1 flap developed incision dehiscence, which healed successfully after redebridement and suturing. The donor site wounds of the rest 2 flaps healed well. During 3 to 12 months of follow-up, the patients with wounds with bone or internal fixation exposure showed no signs of abnormal exudation or infection, and no infection recurrence was observed in patients with wounds with osteomyelitis.Conclusions:The application of chimeric perforator flaps is effective in covering wounds, filling dead spaces, and controlling infection in wounds with bone or internal fixation exposure and wounds with osteomyelitis. Moreover, this method minimizes the damage to the donor site.
4.Relationship between anhedonia and suicidal ideation in patients with first-episode untreated depressive disorder
Weili WU ; Ziyang JI ; Qingqing ZHANG ; Tongtong XIN ; Yunhong DU
Chinese Mental Health Journal 2024;38(5):383-387
Objective:To explore the relationship between anhedonia and suicidal ideation and the effects of anhedonia on suicidal ideation in patients with first-episode untreated depressive disorder.Methods:Totally 106 in-patients who met the diagnostic criteria for depressive disorder of the Diagnostic and Statistical Manual of Mental Disorders,Fifth Edition(DSM-5)were invited to participate in the study.Anhedonia,depressive symptoms and sui-cidal ideation were assessed with the Snaith-Hamilton Pleasure Scale(SHAPS),Hamilton Depression Scale(HAMD)and Beck Scale for Suicide Ideation(BSI),respectively.If both items 4 and 5 of BSI were 0,it indicated non-suicidal ideation,the subjects were divided into a group of suicidal ideation(n=66)and a group non-suicidal ideation(n=40).Spearman correlation analysis and multivariate binary logistic regression analysis were used for a-nalysis.Results:The correlation between the scores of SHAPS and HAMD was not statistically significant(P>0.05).The SHAPS scores were positively correlated with the BSI scores(r=0.70,P<0.01).Meanwhile,binary logistic regression analysis showed that anhedonia was one of a risk factor for suicidal ideation(OR=2.34,95%CI:1.58-3.47,P<0.001).Conclusion:It suggests that anhedonia maybe partially independent of other depres-sive symptoms and it is one of the risk factors for suicidal ideation in first-episode untreated patients with depressive disorder.
5.A single-center clinical study of 61 children with ammonium urate stones
Hongliang JIA ; Yukui NAN ; Yusufu AINIWAER ; Dong LIU ; Aierken YEERFAN ; Peixin ZHANG ; Weili DU ; Fenglan BAI ; Zhenfeng SHI ; Jiuzhi LI
Journal of Modern Urology 2023;28(4):302-306
【Objective】 To analyze the clinical characteristics of children with ammonium urate stones in Xinjiang, so as to provide reference for the prevention and treatment of this disease. 【Methods】 The clinical data of all children with ammonium urate stones admitted to the People’s Hospital of Xinjiang Uygur Autonomous Region from 2016 to 2021 were retrospectively analyzed, including age, sex, body mass index, stone site, stone size, stone component, urine pH, urine culture and biochemical examination results. The serum total protein, albumin, sodium, potassium, calcium, magnesium, uric acid and urine pH were compared between the pure and mixed groups. 【Results】 A total of 61 children (31.6%) had ammonium urate stones, their average age was (4.05±3.37) years, and the male to female ratio was 2.21∶1. Among them, there were 37 cases (60.7%) of renal calculi and 50 cases (82.0%) of upper urinary calculi. The most common component of mixed ammonium urate stones was calcium oxalate, including calcium oxalate monohydrate, calcium oxalate monohydrate and calcium oxalate dihydrate. Compared with mixed type, children with pure stone type had a younger age (P=0.001) and a smaller stone size (P=0.003). Positive urine culture was detected in 14 cases (23.0%), 7 of which (50% were infected with Escherichia coli, and 11 (78.6%) with non-urease bacteria. 【Conclusion】 Non-urease bacteria are the main pathogens of urinary tract infection in children with ammonium urate stones. The incidence is higher in boys, and the most common stone location is upper urinary tract. Calcium oxalate is the most common mixed component. Pure type is more common in young children and the stones are relatively small.
6.Mechanism of turnover intention of junior nurses as second victims after experiencing adverse events
Rongxin DU ; Xiaohong ZHANG ; Shu ZHANG ; Tianyuan GUO ; Weili SUN
Chinese Journal of Practical Nursing 2023;39(10):781-788
Objective:To explore the mechanism of turnover intention of junior nurses after adverse events from three aspects: work pressure, leadership style and personal characteristics.Methods:This study was a cross-sectional survey, using the convenience sampling method, 289 nurses from Shanxi Bethune Hospital from December 2020 to March 2022 were selected as the research subjects, and the general data questionnaire, the Separation Tendency Scale, the Nurses′ Work Stressor Scale, the Service-oriented Leadership Style Scale, and the Prospective Personality Scale were used to survey them.Results:Structural equation model showed that nurses′ job stressor level positively predicted turnover intention, with a path coefficient of 0.74, P<0.01, while service-oriented leadership style and forward-looking personality negatively predicted turnover intention, with path coefficients of -0.60 and -0.37, respectively, both P<0.01. Hierarchical regression analysis showed that both service-oriented leadership style and forward-looking personality negatively moderated the promotion of job stressors on turnover intention, and the moderating effect regression coefficients were -0.146, -0.215, both P<0.01. Conclusions:Hospitals should improve the prospective personality traits of junior nurses and cultivate the service-oriented leadership style of nursing managers after adverse events, so as to reduce the turnover tendency of junior nurses as the second victim, promote the improvement of nursing quality, and stabilize nursing team development.
7.Correlation between CITP/MMP-1 ratio and myocardial fibrosis in patients with chronic heart failure
Yuting LIU ; Weili GUO ; Guiying DU ; Tian ZHOU ; Xuejing HAN ; Mingyu JIA ; Lijuan FAN ; Kegang JIA
Chinese Journal of Laboratory Medicine 2023;46(12):1259-1267
Objective:To investigate the association between CITP/MMP-1 ratio and the severity of Myocardial fibrosis (MF) in patients with Chronic Heart failure (CHF) and its diagnostic and prognostic value in patients with MF.Methods:A retrospective study was conducted to select 110 cases [86 males, (56.60±11.15) years old;24 females, (60.06±12.02) years old] who were hospitalized in the Department of Cardiology, Teda International Cardiovascular Hospital from May 18, 2021 to February 30, 2022 and underwent magnetic magnetic examination. Serum CITP and MMP-1 were detected by enzyme-linked immunoassay and CITP/MMP-1 ratio was calculated. Plasma brain natriuretic peptide (BNP) was detected by automatic chemiluminescence analyzer. Anova and non-parametric test were used to compare the difference of indexes among all groups. Spearman analysis was used to analyze the correlation between serum collagen metabolites and the severity of myocardial fibrosis. Logistic regression analysis was performed for multivariate analysis, and ROC curve was used to evaluate the auxiliary diagnostic value of related indexes. Major adverse cardiac events within 1 year after discharge were recorded, including cardiogenic death, HF rehospitalization, malignant arrhythmia, and myocardial infarction. The risk factors of poor prognosis were analyzed by Cox regression. Patients were divided by the median value of CITP/MMP-1 ratio or the median value of CITP/MMP-1 ratio and BNP. Survival analysis was performed by Kaplan-Meier and Log Rank test was performed.Results:Serum MMP-1 and BNP in LGE (+) group were higher than those in LGE (-) group (1.79 ng/ml > 0.91 ng/ml, Z=-2.924; 503 pg/ml > 367 pg/ml, Z=-1.932; P<0.05); The CITP/MMP-1 ratio in the LGE (+) group was lower than that in the LGE (-) group (3.84 < 10.85, Z=-3.601, P<0.001). MMP-1 in CHF with arrhythmia group was higher than that in CHF group (1.98 ng/ml > 1.25 ng/ml, Z=-2.016), while CITP/MMP-1 ratio was lower than that in CHF group (3.25 < 5.73, Z=-2.751), all P<0.05. CITP/MMP-1 ratio in CHF patients was negatively correlated with the severity of MF ( r=-0.363, P<0.001), and BNP and MMP-1 were positively correlated with the severity of MF ( r=0.267, r=0.264, P<0.05). Serum BNP was positively correlated with collagen metabolite MMP-1 and negatively correlated with CITP/MMP-1 ratio (all P<0.05). Logistic multivariate regression analysis showed that only CITP/MMP-1 was a predictor of myocardial fibrosis, with an OR value of 0.624 ( P=0.005). ROC curve was used to evaluate serum BNP, MMP-1 and CITP/MMP-1 ratio in the diagnosis of myocardial fibrosis in HF patients, with AUC of 0.653, 0.696 and 0.754, respectively. The accuracy of CITP/MMP-1 ratio in diagnosing fibrosis was better than that of BNP by comparing their AUC, and the difference was statistically significant ( Z=-3.808, P<0.001). Cox regression analysis showed that CITP/MMP-1 ≤3.84 was a risk factor for poor prognosis, OR=2.647 ( P=0.009). Kaplan-Meier survival analysis at 1-year follow-up showed that the survival rate of the group with lower CITP/MMP-1 ratio was significantly lower than that of the group with higher CITP/MMP-1 ratio ( P=0.014). The survival rate of CITP/MMP-1 increased and BNP decreased group was higher than that of CITP/MMP-1 decreased and BNP increased group ( P=0.011). Conclusions:The ratio of CITP/MMP-1 can be used as a negative correlation indicator of the degree of cross-linking, which is better than BNP in the evaluation of MF, and has a good auxiliary diagnostic value for myocardial fibrosis in patients with chronic heart failure, and is expected to become a protective indicator for patients with chronic heart failure and be used in clinical evaluation of myocardial fibrosis. CITP/MMP-1 ratio is associated with the incidence of major adverse cardiac events, and CITP/MMP-1 ≤3.84 can be used as a predictor of prognostic adverse cardiovascular events in CHF patients.
8.Analysis of stone composition and clinical characteristics of urinary calculi in infants in Xinjiang
Hongliang JIA ; Weili DU ; Yukui NAN ; Yusufu AINIWAER· ; Dong LIU ; Aierken YEERFAN· ; Peixin ZHANG ; Fenglan BAI ; Peng LEI ; Jiuzhi LI
International Journal of Surgery 2023;50(6):407-412
Objective:To analyze the composition and clinical characteristics of urinary calculi in infants in Xinjiang.Methods:The clinical data of 75 infants with urinary calculi admitted to the People′s Hospital of Xinjiang Uygur Autonomous Region from January 2016 to December 2021 were retrospectively analyzed, including the general situation of the children, stone-related parameters, random urine pH value, urine culture and biochemical examination results. The serum uric acid, serum calcium, urine pH value, positive rate of urine culture, and stone length between infants with and without ammonium urate stones were compared. Measurement data conforming to normal distribution were expressed as mean ± standard deviation ( ± s), and independent sample t-test was used for inter-group comparison. Measurement data that did not conform to the normal distribution were expressed as the median (interquartile distance) [ M ( Q1, Q3)], and Mann-Whitney U test was used for comparison between groups. The Chi-square test, continuity-corrected Chi-square test or Fisher exact probability method were used for the comparison of count data. Results:The median age of infants with urinary calculi was 23.04 months, and the ratio of male to female was 3.2∶1. More than half of the infants (81.3%, 61/75) came from rural areas, 57.3% (43/75) were malnourished, 33.3% (25/75) were complicated with urinary tract infection, and 8.0% (6/75) were combined with urinary system congenital malformation. The calculi were found in 53 cases (70.67%) of kidney, 27 cases (36.0%) of ureter, 17 cases (22.67%) of urethra and 16 cases (21.33%) of bladder. The analysis of calculi composition showed that there were 44 cases (58.67%) of ammonium urate, 39 cases (52.0%) of calcium oxalate, 14 cases (18.67%) of apatite carbonate and 7 cases (9.33%) of uric acid. Kidney calculi was more common in female infants ( P=0.011). Compared with the infant group ( n=19), calcium oxalate stones were more common in the preschooler group ( n=56) ( P=0.039), but there were not statistical difference in the incidence of ammonium urate, apatite carbonate and uric acid stones. There were not statistical difference in gender, age, place of residence, nutritional status, serum uric acid, serum calcium, urine pH value, positive rate of urine culture, stone maximum diameter and incidence of bladder stones between ammonium urate group and non-ammonium urate group. Conclusions:The incidence of urinary calculi in infants is higher in boys, and the most common site of calculi is the upper urinary tract, especially in female kidney calculi. Ammonium urate is the main component of urinary calculi in infants. Calcium oxalate stones are more common in preschooler group. Infants with urinary calculi are mostly rural residents, and malnutrition and urinary tract infection are more common.
9.Clinical effect of the giant deep inferior epigastric artery paraumbilical perforator flap in repairing the circular high-voltage electric burn wounds on the wrist
Weili DU ; Yuming SHEN ; Xiaohua HU ; Fengjun QIN ; Lin CHENG
Chinese Journal of Burns 2023;39(6):527-533
Objective:To investigate the clinical effect of the giant deep inferior epigastric artery paraumbilical perforator flap in repairing the circular high-voltage electric burn wounds on the wrist.Methods:A retrospective observational study method was used. From September 2016 to October 2021, thirteen male patients (aged 20-43 years) with annular high voltage (10-100 kV) electrical burns on the wrist were admitted to the Beijing Jishuitan Hospital. At the early stage after injury, the patient's wrist was subjected to incision, tension reduction and debridement, with the wound area after debridement being 27 cm×16 cm-32 cm×19 cm; in 12 patients with vascular injury, the radial or ulnar artery was reconstructed by great saphenous vein transplantation, with the length of 15-25 cm; the wrist wound was repaired by free transplantation of the deep inferior epigastric artery paraumbilical perforator flap (if the wound was giant, the lower abdominal flap carrying other perforators was used), with the area of 30 cm×19 cm-35 cm×20 cm. The donor site was repaired by direct suture+skin grafting or relay flap transplantation. After surgery, the survival of flap in recipient area, as well as survival of the skin or flap in donor site were observed. During follow-up, the appearances of the flap in recipient area and the recovery of hand function, as well as the healing of donor site, occurrence of abdominal wall hernia, and scar in skin graft area were observed.Results:After surgery, all the 13 patients' paraumbilical perforator flaps survived. Among them, 3 patients had subcutaneous fat necrosis at the distal end of the wrist flap, and the wound had mild infection, which healed after re-expansion and dressing change. All the skin grafts in the donor site of 10 patients survived, and the flaps in the donor site of 3 patients survived well. The patients were followed up for 6 months to 3 years. The flaps in recipient area were in good shape, 8 cases had partial recovery of hand function, and 5 cases had loss of finger flexion function; the donor site of abdominal flap healed well with no abdominal hernia occurred, and the skin graft site had no obvious scar hyperplasia and was soft in texture.Conclusions:Early vascular reconstruction after injury, together with free transplantation of the giant deep inferior epigastric artery paraumbilical perforator flap are effective in repairing circular high-voltage electrical burn wounds on the wrist.
10.Case report of limb girdle muscular dystrophy type 2S caused by maternal uniparental disomy on chromosome 4
Zeng NIU ; Bingxiang MA ; Xiubo DU ; Rongyi ZHOU ; Zheng ZHOU ; Huawei LI ; Weili DANG ; Jiankui ZHANG ; Ruixing LI
Chinese Journal of Applied Clinical Pediatrics 2022;37(1):64-66
A case of limb girdle muscular dystrophy type 2S (LGMD2S) caused by maternal uniparental disomy on chromosome 4 at the First Affiliated Hospital of Henan University of Chinese Medicine in March 2020 was reported.The female child, aged 9 months and 4 days, presented with developmental delay after bacterial meningitis in early infancy, decreased muscle strength in infancy and increased muscle and liver enzymes.Family genetic analysis showed that the child′s monodiploid in chromosome 4 was maternal origin, and the homozygous c. 1066T > G (p.Y356D) of TRAPPC11 gene may had pathogenic variation, which came from the child′s mother.The final diagnosis of LGMD2S was made according to the clinical manifestations and gene test results.LGMD2S is a rare autosomal recessive disease caused by the pathogenic variation of TRAPPC11 gene.Its clinical characteristics include proximal limb weakness, motor and intellectual retardation, seizures, motor disorders, elevated serum creatine kinase and muscular dystrophy like pathological changes in children.

Result Analysis
Print
Save
E-mail