1.Application of Nice knot technique in wound closure of Gustilo type ⅢA and ⅢB open tibial fractures.
Zhipeng YAO ; Minxing WANG ; Wenxiong ZHU ; Shanyi WANG ; Hongxuan HUANG ; Zequn CHEN
Chinese Journal of Reparative and Reconstructive Surgery 2024;38(1):46-50
OBJECTIVE:
To explore the effectiveness of Nice knot technique for wound closure in Gustilo type ⅢA and ⅢB open tibial fractures.
METHODS:
A retrospective study was performed on 22 patients with Gustilo type ⅢA and ⅢB open tibial fractures, who underwent wound closure using the Nice knot technique and were admitted between June 2021 and June 2022. There were 15 males and 7 females. The age ranged from 18 to 67 years, with an average of 41.9 years. The causes of injury included traffic accident in 11 cases, falling from height in 7 cases, and heavy object injuries in 4 cases. Fractures were located on the left side in 9 cases and on the right side in 13 cases. And 9 cases were type ⅢA fractures and 13 were type ⅢB fractures according to Gustilo classification. All patients had extensive soft tissue injuries, and no vascular or neurological damage was observed. The time from injury to debridement was 3-8 hours (mean, 6.5 hours). The sizes of wounds before operation and at 2 weeks after operation were measured and wound healing rate at 2 weeks after operation were calculated. The wound healing time and wound healing grading were recorded. The Vancouver Scar Scale (VSS) score was used to assess the wound scar after wound healed and the excellent and good rate was calculated.
RESULTS:
The wound area was 21.0-180.0 cm 2 (mean, 57.82 cm 2) before operation, and it was 1.2-27.0 cm 2 (mean, 6.57 cm 2) at 2 weeks after operation. The wound healing rate at 2 weeks after operation was 76%-98% (mean, 88.6%). After operation, 2 cases needed to adjust Nice knot due to skin cutting and 1 case occurred soft tissue infection on the wound. The other patient's wounds healed. The average wound healing time was 27.8 days (range, 18-44 days). And the wound healing were grade A in 13 cases and grade B in 9 cases. VSS score was 2-9, with an average of 4.1; 10 cases were rated as excellent, 10 as good, and 2 as poor, with an excellent and good rate of 90.9%. All patients were followed up 9-24 months (mean, 14.6 months). During follow-up, no deep infection or osteomyelitis occurred. Two cases experienced fracture non-union, and were treated with compression fixation and bone grafting. The fractures of the other patients all healed, with a healing time of 85-190 days (mean, 148.2 days).
CONCLUSION
Nice knot technique can be used in wound closure of Gustilo type ⅢA and ⅢB open tibial fractures effectively, which is easy to operate.
Male
;
Female
;
Humans
;
Adolescent
;
Young Adult
;
Adult
;
Middle Aged
;
Aged
;
Cicatrix
;
Retrospective Studies
;
Treatment Outcome
;
Tibial Fractures/surgery*
;
Wound Healing
;
Fracture Fixation, Internal/methods*
;
Fractures, Open/surgery*
2.The correlation between EEG features and therapeutic effect in children with electrical status epilepticus during sleep
Xiuying WANG ; Bingwei PENG ; Haixia ZHU ; Xiaojing LI ; Shuyao NING ; Wenxiong CHEN ; Fangmei FENG
The Journal of Practical Medicine 2024;40(4):526-531
Objective To explore EEG characteristics and the therapeutic effect in children with electrical status epilepticus during slow sleep(ESES).Methods The eligible ESES cases in our center from 2014 to 2020 were included.The age at diagnosis of ESES,the duration of ESES,spike wave index(SWI)during wakefulness and the distribution of spike wave during the period of ESES,age at seizure onset,the clinical syndromes and the outcomes after treatment were analyzed.The ESES cases were divided into 4 groups according to the distribution of spike wave:focal ESES,unilateral ESES,bilateral asymmetric ESES,multiple foci ESES.The SWI during the awake stage were divided into 3 groups based on the different rates:≤20%,21%~49%,≥50%.The therapeutic outcomes were classified into three groups:satisfactory response,seizure control and ineffective.Results 50 cases were included,with 32 males and 18 females.The average onset age of ESES was 6 years and 7 months,and the average duration of ESES was 28 months.A significant correlation between the distribution of ESES and the thera-peutic effects was found,bilateral asymmetric ESES had a good therapeutic effects,while multiple foci ESES showed a poor therapeutic effects.The duration of ESES was significantly correlated with therapeutic effects,and the efficacy was worse when the duration was longer than 1 year.A significant relationship between the SWI during wakefulness of ESES and the therapeutic effects was detected,the patient with SWI≤20%during wakefulness had a good therapeutic effect.There was a negative correlation between the onset age of ESES and the duration of ESES and SWI index during wakefulness.There was a positive correlation between the duration of ESES and SWI index during wakefulness.Conclusion Our results suggest that onset age,distribution,duration and SWI during wake-fulness of ESES were correlated with therapeutic outcomes,The patient with SWI≤20%during wakefulness had a good therapeutic effect and have unfavorable outcomes with ESES last more than 1 year.The earlier onset of ESES,the longer duration of ESES and higher SWI during wakefulness will be showed..
3.Surgical treatment and prognosis analysis of hilar cholangiocarcinoma
Xiangcheng LI ; Changxian LI ; Hui ZHANG ; Feng CHENG ; Feng ZHANG ; Liyong PU ; Chuanyong ZHANG ; Ke WANG ; Lianbao KONG ; Xiaofeng QIAN ; Donghua LI ; Wenxiong LU ; Ping WANG ; Aihua YAO ; Jianfeng BAI ; Xiaofeng WU ; Ruixiang CHEN ; Xuehao WANG
Chinese Journal of Surgery 2024;62(4):290-301
Objective:To investigate the surgical treatment effect and prognostic factors of hilar cholangiocarcinoma.Methods:This is an ambispective cohort study. From August 2005 to December 2022,data of 510 patients who diagnosed with hilar cholangiocarcinoma and underwent surgical resection at the Hepatobiliary Center of the First Affiliated Hospital of Nanjing Medical University were retrospectively collected. In the cohort,there were 324 males and 186 females,with an age of ( M (IQR)) 63(13)years (range:25 to 85 years). The liver function at admission was Child-Pugh A (343 cases,67.3%) and Child-Pugh B (167 cases,32.7%). Three hundred and seventy-two(72.9%) patients had jaundice symptoms and the median total bilirubin was 126.3(197.6) μmol/L(range: 5.4 to 722.8 μmol/L) at admission. Two hundred and fourty-seven cases (48.4%) were treated with percutaneous transhepatic cholangial drainage or endoscopic nasobiliary drainage before operation. The median bilirubin level in the drainage group decreased from 186.4 μmol/L to 85.5 μmol/L before operation. Multivariate Logistic regression was used to identify the influencing factors for R0 resection,and Cox regression was used to construct multivariate prediction models for overall survival(OS) and disease-free survival(DFS). Results:Among 510 patients who underwent surgical resection,Bismuth-Corlett type Ⅲ-Ⅳ patients accounted for 71.8%,among which 86.1% (315/366) underwent hemi-hepatectomy,while 81.9% (118/144) underwent extrahepatic biliary duct resection alone in Bismuch-Corlett type Ⅰ-Ⅱ patients. The median OS time was 22.8 months, and the OS rates at 1-,3-,5-and 10-year were 72.2%,35.6%,24.8% and 11.0%,respectively. The median DFS time was 15.2 months,and the DFS rates was 66.0%,32.4%,20.9% and 11.0%,respectively. The R0 resection rate was 64.5% (329/510), and the OS rates of patients with R0 resection at 1-,3-,5-and 10-year were 82.5%, 48.6%, 34.4%, 15.2%,respectively. The morbidity of Clavien-Dindo grade Ⅲ-Ⅴ complications was 26.1%(133/510) and the 30-day mortality was 4.3% (22/510). Multivariate Logistic regression indicated that Bismuth-Corlett type Ⅰ-Ⅲ ( P=0.009), hemi-hepatectomy and extended resection ( P=0.001),T1 and T2 patients without vascular invasion (T2 vs. T1: OR=1.43 (0.61-3.35), P=0.413;T3 vs. T1: OR=2.57 (1.03-6.41), P=0.010;T4 vs. T1, OR=3.77 (1.37-10.38), P<0.01) were more likely to obtain R0 resection. Preoperative bilirubin,Child-Pugh grade,tumor size,surgical margin,T stage,N stage,nerve infiltration and Edmondson grade were independent prognostic factors for OS and DFS of hilar cholangiocarcinoma patients without distant metastasis. Conclusions:Radical surgical resection is necessary to prolong the long-term survival of hilar cholangiocarcinoma patients. Hemi-hepatectomy and extended resection,regional lymph node dissection and combined vascular resection if necessary,can improve R0 resection rate.
4.Correlation between clinical phenotypes and genotypes among 46 children with SCN1A-related developmental epileptic encephalopathy
Bingwei PENG ; Haixia ZHU ; Yang TIAN ; Xiaojing LI ; Xiuying WANG ; Yuanyuan GAO ; Yani ZHANG ; Huiling SHEN ; Wenxiong CHEN
Chinese Journal of Medical Genetics 2024;41(4):426-431
Objective:To explore the correlation between clinical phenotypes and genotypes among 46 children with SCN1A-related developmental epileptic encephalopathy (DEE). Methods:Clinical data of 46 children with DEE and SCN1A variants identified at the Guangzhou Women and Children′s Medical Center between January 2018 and June 2022 were collected. The children were grouped based on their age of onset, clinical manifestations, neurodevelopmental status, and results of genetic testing. The correlation between SCN1A genotypes and clinical phenotypes was analyzed. Results:Among the 46 patients, 2 children (4.35%) had developed the symptoms before 3 months of age, 42 (91.30%) were between 3 to 9 months, and 2 cases (4.35%) were after 10 months. Two cases (4.35%) presented with epilepsy of infancy with migrating focal seizures (EIMFS), while 44 (95.7%) had presented with Dravet syndrome (DS), including 28 cases (63.6%) with focal onset (DS-F), 13 cases (29.5%) with myoclonic type (DS-M), 1 case (2.27%) with generalized type (DS-G), and 2 cases (4.55%) with status epilepticus type (DS-SE). Both of the two EIMFS children had severe developmental delay, and among the DS patients, 7 cases had normal development, while the remaining had developmental delay. A total of 44 variants were identified through genetic sequencing, which included 16 missense variants and 28 truncating variants. All EIMFS children had carried the c. 677C>T (p.Thr226Met) missense variant. In the DS group, there was a significant difference in the age of onset between the missense variants group and the truncating variants group ( P < 0.05). Missense variants were more common in D1 (7/15, 46.7%) and pore regions (8/15, 53.3%), while truncating variants were more common in D1 (12/28, 42.9%). Children with variants outside the pore region were more likely to develop myoclonic seizures. Conclusion:The clinical phenotypes of DEE are diverse. There is a difference in the age of onset between individuals with truncating and missense variants in the SCN1A gene. Missense variants outside the pore region are associated with a higher incidence of myoclonic seizures.
5.Surgical treatment and prognosis analysis of hilar cholangiocarcinoma
Xiangcheng LI ; Changxian LI ; Hui ZHANG ; Feng CHENG ; Feng ZHANG ; Liyong PU ; Chuanyong ZHANG ; Ke WANG ; Lianbao KONG ; Xiaofeng QIAN ; Donghua LI ; Wenxiong LU ; Ping WANG ; Aihua YAO ; Jianfeng BAI ; Xiaofeng WU ; Ruixiang CHEN ; Xuehao WANG
Chinese Journal of Surgery 2024;62(4):290-301
Objective:To investigate the surgical treatment effect and prognostic factors of hilar cholangiocarcinoma.Methods:This is an ambispective cohort study. From August 2005 to December 2022,data of 510 patients who diagnosed with hilar cholangiocarcinoma and underwent surgical resection at the Hepatobiliary Center of the First Affiliated Hospital of Nanjing Medical University were retrospectively collected. In the cohort,there were 324 males and 186 females,with an age of ( M (IQR)) 63(13)years (range:25 to 85 years). The liver function at admission was Child-Pugh A (343 cases,67.3%) and Child-Pugh B (167 cases,32.7%). Three hundred and seventy-two(72.9%) patients had jaundice symptoms and the median total bilirubin was 126.3(197.6) μmol/L(range: 5.4 to 722.8 μmol/L) at admission. Two hundred and fourty-seven cases (48.4%) were treated with percutaneous transhepatic cholangial drainage or endoscopic nasobiliary drainage before operation. The median bilirubin level in the drainage group decreased from 186.4 μmol/L to 85.5 μmol/L before operation. Multivariate Logistic regression was used to identify the influencing factors for R0 resection,and Cox regression was used to construct multivariate prediction models for overall survival(OS) and disease-free survival(DFS). Results:Among 510 patients who underwent surgical resection,Bismuth-Corlett type Ⅲ-Ⅳ patients accounted for 71.8%,among which 86.1% (315/366) underwent hemi-hepatectomy,while 81.9% (118/144) underwent extrahepatic biliary duct resection alone in Bismuch-Corlett type Ⅰ-Ⅱ patients. The median OS time was 22.8 months, and the OS rates at 1-,3-,5-and 10-year were 72.2%,35.6%,24.8% and 11.0%,respectively. The median DFS time was 15.2 months,and the DFS rates was 66.0%,32.4%,20.9% and 11.0%,respectively. The R0 resection rate was 64.5% (329/510), and the OS rates of patients with R0 resection at 1-,3-,5-and 10-year were 82.5%, 48.6%, 34.4%, 15.2%,respectively. The morbidity of Clavien-Dindo grade Ⅲ-Ⅴ complications was 26.1%(133/510) and the 30-day mortality was 4.3% (22/510). Multivariate Logistic regression indicated that Bismuth-Corlett type Ⅰ-Ⅲ ( P=0.009), hemi-hepatectomy and extended resection ( P=0.001),T1 and T2 patients without vascular invasion (T2 vs. T1: OR=1.43 (0.61-3.35), P=0.413;T3 vs. T1: OR=2.57 (1.03-6.41), P=0.010;T4 vs. T1, OR=3.77 (1.37-10.38), P<0.01) were more likely to obtain R0 resection. Preoperative bilirubin,Child-Pugh grade,tumor size,surgical margin,T stage,N stage,nerve infiltration and Edmondson grade were independent prognostic factors for OS and DFS of hilar cholangiocarcinoma patients without distant metastasis. Conclusions:Radical surgical resection is necessary to prolong the long-term survival of hilar cholangiocarcinoma patients. Hemi-hepatectomy and extended resection,regional lymph node dissection and combined vascular resection if necessary,can improve R0 resection rate.
6.The efficacy of pedicled bladder muscle flap in the repair and reconstruction of urinary tract obstruction
Xuxiao YE ; Yinglong SA ; Chongrui JIN ; Xiaoyong HU ; Dongliang YAN ; Wenxiong SONG ; Jijian WANG ; Rong LYU
Chinese Journal of Urology 2023;44(5):354-358
Objective:To explore the efficacy of pedicled bladder muscle flap in the repair of urinary tract obstruction.Methods:The data of 26 patients with urinary tract obstruction admitted to Shanghai Sixth People's Hospital Affiliated to Shanghai Jiaotong University School of Medicine from March 2016 to June 2021 were retrospectively reviewed. There were 14 males and 12 females, with the age ranged from 2 to 75 years old. Refractory bladder neck obstruction after prostatic hyperplasia surgery in 12 cases, with the age of (70.0±3.5) years old.They all experienced at least 2 times of transurethral stenosis incisionor resection. Transpubic cystostomy tube was placed in 9 patients. Posttraumatic pelvic fractures lead to bladder neck atresia and urethral injury in 6 girls, with the age of (10.5±2.1) years old. The bladder neck atresia and urethral obliteration length was 1-2 cm determined by urethrography. Eight cases suffered ureteral strictures after gynecological myomectomy or ureteroscopy holmium laser lithotripsy(4 cases of each type), including two males and six females, with the age of (55.0±3.2) years old. The length of ureteral stricture or defect was 5-6 cm determined by intravenous urography(IVU) or CT urography(CTU). The patients with bladder neck obstruction underwent the following surgery: The "Y" incision of the bladder and stenosis of the prostate urethra was performed and the pedicled bladder muscle flap was inserted into the normal urethral mucosa to complete the Y-V plasty. In the 6 girl patients, pedicled bladder muscle flap(2-4 cm) augmented reconstruction were performed. All above 18 patients, whose urethral catheter was indwelled for 3-4 weeks, urinary flow rate and urethroscopy examination were performed to evaluate the effect of surgery 4 weeks and 3 months after the operation. As the 8 cases with ureteral strictures, the pedicled bladder muscle flap (7-8 cm) ureteroplasty was performed and the ureteral stent was retained for 4 weeks. Ultrasonography and IVU/CTU were performed 4 weeks and 3 months postoperatively. The patency of the ureteral lumen and whether it is accompanied by hydronephrosis, lower back pain, and urinary tract infection were assessed.Results:All patients underwent pedicled bladder muscle flap reconstructive surgery successfully and no serious complications occurred postoperatively. The patients were followed up for (8.2± 2.2) months. As urethral catheters were removed, 10 patients with refractory neck obstruction could return to normal urination with the urinary flow Q max (17.2±2.8)ml/s, while 2 patient had dysuria and were treated with regular urethral dilatation. The catheter was removed 4 weeks after the reconstructive surgery in 6 girls with bladder neck atresia and urethral injury after posttraumatic pelvic fracture. Five could successfully urinate with the urinary flow Q max of (16.7±1.1)ml/s, and one girl had urinary incontinence, waiting for further operation.The ureteral stent was removed after ureteroplasty in 8 patients. CTU and IVU examination showed no ureters with obstruction.No one had low back pain, discomfort, or urinary tract infection. Conclusions:The reconstruction using the pedicled bladder muscle flap was a convenient, minimally invasive and effective technique for the management of adjacent lower ureters, bladder neck, and proximal urethra.
7.Influence of artificial liver support system therapy on platelet in treatment of hepatitis B virus-related acute-on-chronic liver failure
Lu WANG ; Wenxiong XU ; Shu ZHU ; Xuejun LI ; Yuanli CHEN ; Chan XIE ; Liang PENG
Journal of Clinical Hepatology 2022;38(5):1053-1058
Objective To investigate the changing trend of platelet count (PLT) and related influencing factors in patients with hepatitis B virus-related chronic-on-acute liver failure (HBV-ACLF) after artificial liver support system (ALSS) therapy. Methods A total of 152 patients with HBV-ACLF who were hospitalized and treated in The Third Affiliated Hospital of Sun Yat-Sen University from January 2018 to November 2021 were included in the study, among whom 102 patients received plasma exchange (PE) and 50 patients received double plasma molecular absorption system combined with low-dose PE, and their clinical data and laboratory marker were measured. The independent samples t -test or the Mann-Whitney U test was used for the comparison of continuous data between two groups, and the chi-square test was used for the comparison of categorical data between two groups; a multivariate logistic regression analysis was used to investigate the risk factors for PLT > 50×10 9 /L after ALSS therapy; the receiver operating characteristic (ROC) curve was used to investigate the value of baseline PLT in predicting PLT > 50×10 9 /L after ALSS therapy. Results The patients were mostly middle-aged male adults; among the 152 patients, 70 (46.1%) had liver cirrhosis on admission, 114 (75.0%) received three sessions of ALSS therapy, and 88% had a baseline PLT count of > 50×10 9 /L. There was a significant reduction in PLT from baseline to after ALSS therapy (79.5±47.7 vs 112.5±64.1, t =4.965, P < 0.001), and at 1 week after treatment, PLT increased to the baseline level (97.2±50.7 vs 112.5±64.1, t =1.787, P =0.075). As for the change in PLT from baseline to 1 week after ALSS therapy, the liver cirrhosis group had a significantly greater reduction in PLT than the non-liver cirrhosis group ( U =1986.5, P =0.026), while there was no significant difference between different procedures of ALSS therapy and different sessions of treatment (3-5 sessions) (all P > 0.05). The multivariate logistic regression analysis showed that cirrhosis (odds ratio [ OR ]=3.097, 95% confidence interval [ CI ]: 1.255-7.645, P =0.014) and PLT > 50×10 9 /L at baseline ( OR =0.019, 95% CI : 0.002-0.154, P < 0.001) were independent risk factors for PLT > 50×10 9 /L after ALSS therapy. The ROC curve analysis of baseline PLT showed that PLT > 80.5×10 9 /L at baseline was the optimal cut-off value affecting PLT > 50×10 9 /L after treatment, with an area under the ROC curve of 0.818. Conclusion The influence of ALSS therapy on PLT is temporary, but cirrhotic patients have a weaker PLT generation ability than non-cirrhotic patients. PLT > 80.5×10 9 /L at baseline is the optimal cut-off value to reduce the risk of bleeding after ALSS therapy.
8.Advance in the degradation of biodegradable plastics in different environments.
Yan JIN ; Fanfan CAI ; Ligong WANG ; Chao SONG ; Wenxiong JIN ; Junfang SUN ; Guangqing LIU ; Chang CHEN
Chinese Journal of Biotechnology 2022;38(5):1784-1808
With the continuously increasing demands of plastic products in the current society, the challenge of disposing plastic waste is constantly increasing, leading to the urgent need of mitigating plastic pollution. As a consequence, much attention has been paid to biodegradable plastics due to their degradability in a bio-active environment under certain conditions. Biodegradable plastics herald vast development potentials and considerable market prospects. The degradation of numerous types of biodegradable plastics will be affected by many factors. A thorough understanding of degradation mechanisms as well as functional microbial strains and enzymes is the key to comprehensive utilization and efficient treatment and disposal of biodegradable plastics. The article summarized the types, properties, advantages and disadvantages, and main applications of common biodegradable plastics. The degradation mechanisms, functional microbial strains and enzymes, as well as the degradation degree and duration under different environmental conditions, were also summarized. This review may help better understand the degradation of biodegradable plastics wastes.
Biodegradable Plastics
;
Biodegradation, Environmental
9.The correlation between cardiac troponinⅠ level and short-term mortality after liver transplantation
Shuyan GUO ; Jingyi WANG ; Xi ZHENG ; Huimiao JIA ; Yijia JIANG ; Yibing WENG ; Wenxiong LI
Chinese Journal of General Surgery 2022;37(3):207-211
Objective:To evaluate the correlation between elevated cTnI level and 28-day mortality after liver transplantation.Methods:A retrospective study was conducted in adult patients admitted to ICU after liver transplantation from Jun 2015 to March 2019 at Beijing Chao-Yang Hospital. The cardiac troponin Ⅰ levels within 48 h after surgery were examined. Patients outcome was followed up,the primary end point was mortality within 28-day. Univariate and multivariate logistic regression models were used to look for predictors of 28-day mortality.Results:Three hundred and eighteen patients were included in our analyses. Twenty-six patients died and 292 survived within 28 days after LT. Two hundred and forty-three of 318 (76.4%) cases presented elevated cTnI in the early stage after LT. Thirty-seven of 318 (11.6%) patients presented a moderate elevation of cTnI level (5-10 times over normal upper limit), 75 (23.6%) of them presented severe cTnI elevation (10 times over normal upper limit). Univariate and multivariate logistic regression model shows severe cTnI elevation was the independent prognostic factors associated with 28-day mortality [Odds Ratio (95% confidence interval)=3.151(1.218-8.150), P=0.018]. Conclusion:Early cTnI elevation is common after liver transplantation, and severe cTnI elevation is significantly associated with 28-day mortality.
10.Clinical characteristics and genetic analysis of a child with infantile Sandhoff disease and eosinophilia.
Haixia ZHU ; Wenlin WU ; Wenxiong CHEN ; Yiru ZENG ; Yuan ZHAO ; Xiuying WANG ; Xiaojing LI
Chinese Journal of Medical Genetics 2022;39(10):1124-1128
OBJECTIVE:
To explore the genetic basis for a girl featuring epilepsy, developmental delay and regression.
METHODS:
Clinical data of the patient was collected. Activities of hexosaminidase A (Hex A) and hexosaminidase A&B (Hex A&B) in blood leukocytes were determined by using a fluorometric assay. Peripheral blood samples were collected from the proband and six members from her pedigree. Following extraction of genomic DNA, whole exome sequencing was carried out. Candidate variants were verified by Sanger sequencing.
RESULTS:
Enzymatic studies of the proband have shown reduced plasma Hex A and Hex A&B activities. Genetic testing revealed that she has carried c.1260_1263del and c.1601G>C heterozygous compound variants of the HEXB gene. Her mother, brother and sister were heterozygous carriers of c.1260_1263del, while her father, mother, three brothers and sister did not carry the c.1601G>C variant, suggesting that it has a de novo origin. Increased eosinophils were discovered upon cytological examination of peripheral blood and bone marrow samples.
CONCLUSION
The compound heterozygous variants of c.1260_1263del and c.1601G>C of the HEXB gene probably underlay the Sandhoff disease in this child. Eosinophilia may be noted in infantile Sandhoff disease.
Child
;
Eosinophilia/genetics*
;
Female
;
Genetic Testing
;
Hexosaminidase A/genetics*
;
Hexosaminidase B/genetics*
;
Humans
;
Male
;
Mutation
;
Pedigree
;
Sandhoff Disease/genetics*

Result Analysis
Print
Save
E-mail