1.Surveillance of echinococcosis in Bayingolin Mongol Autonomous Prefecture, Xinjiang Uygur Autonomous Region from 2017 to 2022
Yue ZHANG ; Jun WU ; Simayi ADILI ; Shuo WANG ; Haiting ZHANG ; Guangzhong SHI ; Jiangshan ZHAO
Chinese Journal of Schistosomiasis Control 2024;36(1):79-82
Objective To analyze the echinococcosis surveillance results in Bayingolin Mongol Autonomous Prefecture, Xinjiang Uygur Autonomous Region from 2017 to 2022, so as to provide insights into formulation of echinococcosis control measures in the prefecture. Methods Villagers were randomly sampled using a multistage sampling method from class I and II echinococcosis endemic counties in Bayingolin Mongolian Autonomous Prefecture from 2017 to 2022 for detection of human echinococcosis, while all patients undergoing ultrasound examinations in medical institutions in class III endemic counties received active echinococcosis screening. In addition, livestock in centralized slaughterhouses or slaughtering sites were screened for echinococcosis using the palpation and necropsy method, and fresh domestic dog feces samples were collected from randomly selected dog owners in each administrative village for detection of Echinococcus copro-antigen in domestic dogs. The trends in detection of human and livestock echinococcosis, detection of newly diagnosed human echinococcosis cases and detection of Echinococcus coproantigen in domestic dogs were analyzed in Bayingolin Mongol Autonomous Prefecture from 2017 to 2022. Results The mean detection rate of human echinococcosis was 0.13% (540/407 803) in Bayingolin Mongol Autonomous Prefecture from 2017 to 2022, which appeared a tendency towards a decline over years (χ2trend = 1 217.21, P < 0.001), and the highest detection of newly diagnosed echinococcosis cases was seen in Hejing County (0.28%, 191/67 865). The detection of livestock echinococcosis appeared a tendency towards a decline over years from 2017 to 2022 (χ2trend = 147.02, P < 0.001), with the highest detection rate seen in Hejing County (3.44%, 86/2 500), and the detection of Echinococcus copro-antigen in domestic dogs appeared a tendency towards a decline over years from 2017 to 2022 (χ2trend = 302.46, P < 0.001), with the highest detection rate in Qiemo County (2.74%, 118/4 313). Conclusions The detection of human and livestock echinococcosis and dog feces antigens Echinococcus copro-antigen in domestic dogs all appeared a tendency towards a decline in Bayingolin Mongol Autonomous Prefecture, Xinjiang Uygur Autonomous Region from 2017 to 2022; however, there is still a high echinococcosis transmission risk in local areas. Sustainable integrated echinococcosis control is required in Bayingolin Mongol Autonomous Prefecture.
2.A comparative study on the diagnostic efficacy of ultrasound and MRI in fibro-adipose vascular anomaly
Wenjia HU ; Fan WEI ; Zhaohan WANG ; Yulin ZHENG ; Gang WU ; Haiting LI ; Changxian DONG ; Yubin GONG
Chinese Journal of Plastic Surgery 2024;40(3):293-299
Objective:To compare the diagnostic efficacy of ultrasound and MRI in fibro-adipose vascular anomaly (FAVA).Methods:The clinical data of patients with suspected FAVA who underwent ultrasound and MRI examinations at Henan Provincial People’s Hospital from January 2011 to October 2021 were retrospectively analyzed. The imaging findings from ultrasound and MRI were analyzed, and then compared with the pathological findings. To evaluate the diagnostic efficacy of ultrasound and MRI in diagnosing FAVA by assessing sensitivity, specificity, positive predictive value, negative predictive value, and coincidence rate. Paired χ2 test (McNemar test) was used to compare the coincidence rate of ultrasound and MRI, as well as their combined diagnosis. A significance level of P < 0.05 was considered statistically significant. Results:A total of 50 patients were included in the study, comprising 24 males and 26 females, with their ages ranging from 1 to 50 years and an average age of (16.2 ± 10.5) years. Pathology confirmed 43 FAVA patients and 7 non-FAVA patients. The sensitivity, specificity, positive predictive value, negative predictive value, and coincidence rate of ultrasound in the diagnosis of FAVA were 83.7%, 71.4%, 94.7%, 41.7%, and 82.0%, respectively. The sensitivity, specificity, positive predictive value, negative predictive value, and coincidence rate of MRI in the diagnosis of FAVA were 69.8%, 85.7%, 96.8%, 31.6%, and 72.0%, respectively. The sensitivity, specificity, positive predictive value, negative predictive value, and coincidence rate of FAVA were 90.7%, 71.4%, 95.1%, 55.6%, and 88.0%, respectively. The diagnostic accuracy of ultrasound was higher than that of MRI, but the difference was not statistically significant ( χ2 = 1.41, P = 0.235). The coincidence rate of combined diagnosis was higher than that of ultrasound ( χ2= 0.71, P = 0.401) and MRI ( χ2= 4.00, P = 0.039), with a statistically significant difference. Conclusion:Both ultrasound and MRI are highly valuable in diagnosing FAVA. The combined usage of ultrasound and MRI can enhance the accuracy of preoperative FAVA diagnosis.
3.Development and reliability and validity test of a Self-Assessment Scale for Medication Literacy in Patients with Coronary Heart Disease Comorbidity Diabetes
Haiting LIU ; Yongmei WANG ; Beibei ZHENG ; Lili CAI ; Linbin YE ; Jiayun WU ; Li NING ; Yimin LI ; Weixia CHEN
Chinese Journal of Nursing 2024;59(9):1065-1072
Objective To develop a self-assessment scale for medication literacy in patients with coronary heart disease comorbidity diabetes and to test its reliability and validity.Methods According to medication literacy theory model,the initial scale was formed through literature review,the qualitative interview and expert inquiry.Cognitive interview was used to optimize the expression of item text.421 patients with coronary heart disease comorbidity diabetes in a tertiary hospital in Zhejiang province from November 2022 to April 2023 were selected to investigate the reliability and validity of the scale by convenience sampling.Results The self-assessment scale of drug literacy for coronary heart disease comorbidity diabetes mellitus included 23 items in 5 dimensions including acquisition,understanding,communication,evaluation and calculation.The total Cronbach's α coefficient of the scale was 0.911;the retest reliability was 0.948;the average content validity index was 0.997;the correlation coefficients between each dimension and total score of the scale and the calibration scale ranged from 0.485 to 0.926.The exploratory factor analysis was employed to extract 5 common factors,and the cumulative variance contribution rate was 73.753%.Confirmatory factor analysis showed that the scale factor structure was stable.Conclusion The scale has good reliability and validity,and it can be used as an effective tool to evaluate the self-rated medication literacy level of patients with coronary heart disease comorbidity diabetes.
4.A comparative study on the diagnostic efficacy of ultrasound and MRI in fibro-adipose vascular anomaly
Wenjia HU ; Fan WEI ; Zhaohan WANG ; Yulin ZHENG ; Gang WU ; Haiting LI ; Changxian DONG ; Yubin GONG
Chinese Journal of Plastic Surgery 2024;40(3):293-299
Objective:To compare the diagnostic efficacy of ultrasound and MRI in fibro-adipose vascular anomaly (FAVA).Methods:The clinical data of patients with suspected FAVA who underwent ultrasound and MRI examinations at Henan Provincial People’s Hospital from January 2011 to October 2021 were retrospectively analyzed. The imaging findings from ultrasound and MRI were analyzed, and then compared with the pathological findings. To evaluate the diagnostic efficacy of ultrasound and MRI in diagnosing FAVA by assessing sensitivity, specificity, positive predictive value, negative predictive value, and coincidence rate. Paired χ2 test (McNemar test) was used to compare the coincidence rate of ultrasound and MRI, as well as their combined diagnosis. A significance level of P < 0.05 was considered statistically significant. Results:A total of 50 patients were included in the study, comprising 24 males and 26 females, with their ages ranging from 1 to 50 years and an average age of (16.2 ± 10.5) years. Pathology confirmed 43 FAVA patients and 7 non-FAVA patients. The sensitivity, specificity, positive predictive value, negative predictive value, and coincidence rate of ultrasound in the diagnosis of FAVA were 83.7%, 71.4%, 94.7%, 41.7%, and 82.0%, respectively. The sensitivity, specificity, positive predictive value, negative predictive value, and coincidence rate of MRI in the diagnosis of FAVA were 69.8%, 85.7%, 96.8%, 31.6%, and 72.0%, respectively. The sensitivity, specificity, positive predictive value, negative predictive value, and coincidence rate of FAVA were 90.7%, 71.4%, 95.1%, 55.6%, and 88.0%, respectively. The diagnostic accuracy of ultrasound was higher than that of MRI, but the difference was not statistically significant ( χ2 = 1.41, P = 0.235). The coincidence rate of combined diagnosis was higher than that of ultrasound ( χ2= 0.71, P = 0.401) and MRI ( χ2= 4.00, P = 0.039), with a statistically significant difference. Conclusion:Both ultrasound and MRI are highly valuable in diagnosing FAVA. The combined usage of ultrasound and MRI can enhance the accuracy of preoperative FAVA diagnosis.
5.Effects of pulmonary rehabilitation training on respiratory function,muscle strength,muscle mass and exercise tolerance in patients with chronic obstructive pulmonary disease and sarcopenia
Yi YIN ; Haiting YIN ; Wei WANG ; Yan WU ; Aiyu ZHENG
Journal of Xinxiang Medical College 2024;41(11):1059-1064
Objective To explore the effects of pulmonary rehabilitation training on respiratory function,muscle strength,muscle mass,exercise endurance in patients with chronic obstructive pulmonary disease(COPD)and sarcopenia.Methods A total of 100 patients with COPD and sarcopenia admitted to Taixing People's Hospital from June 2022 to June 2023 were selected as the research subjects.These patients were randomly divided into control group and observation group by the envelope method,with 50 patients in each group.The patients in the control group were given conventional COPD treatment,and the patients in the observation group were given conventional COPD treatment combined with pulmonary rehabilitation training,and all patients were treated for 6 months.The pulmonary function[forced vital capacity(FVC),forced expiratory volume in the one second(FEV1),and FEV1/FVC ratio]of patients in the two groups was evaluated by spirometer at admission,4 weeks,12 weeks,and 6 months of training.The COPD assessment test(CAT)questionnaire and the modified Medical Research Council dyspnea scale(mMRC)score were used to evaluate the degree of dyspnea of patients in the two groups.The skeletal muscle index(SMI)of patients in the two groups was measured by bioelectrical impedance analyzer,the handgrip strength(HGS)of patients in the two groups was measured by electronic handgrip dynamometer,and the exercise tolerance of patients in the two groups was evaluated by 6-minute walk test.Patients who needed to be re-hospitalized during the study period filled in the re-hospitalization registration form,and the re-hospitalization rate was calculated.Results There was no statistically significant difference in FVC,FEV,,and FEV1/FVC ratio of patients between the two groups at admission(P>0.05);the FVC,FEV1,and FEV1/FVC ratio of patients at 4 weeks,12 weeks,and 6 months of training were significantly high-er than those at admission in the control group and the observation group(P<0.05);after 4 weeks,12 weeks,and 6 months of training,the FVC,FEV1,and FEV1/FVC ratio of patients in the observation group were significantly higher than those in the control group(P<0.05).There was no statistically significant difference in CAT and mMRC scores of patients between the two groups at admission(P>0.05);the CAT and mMRC scores of patients at 4 weeks,12 weeks,and 6 months of training were significantly lower than those at admission in the control group and the observation group(P<0.05);after 4 weeks,12 weeks,and 6 months of training,the CAT and mMRC scores of patients in the observation group were significantly lower than those in the control group(P<0.05).There was no significant difference in SMI and HGS levels of patients between the two groups at admission(P>0.05);the SMI and HGS levels of patients at 4 weeks,12 weeks and 6 months of training were significantly higher than those at admission in the control group and the observation group(P<0.05);after 4 weeks,12 weeks and 6 months of training,the SMI and HGS levels of patients in the observation group were significantly higher than those in the control group(P<0.05).There was no significant difference in the 6-minute walking distance between the two groups at admission(P>0.05);the 6-minute walking distances of patients at 4 weeks,12 weeks and 6 months of training were significantly higher than those at admission in the control group and the observation group(P<0.05);after 4 weeks,12 weeks and 6 months of training,the 6-minute walking distance of patients in the observation group was significantly higher than that in the control group(P<0.05).The re-hospitalization rate of patients in the observation group and the control group was 14%(7/50)and 32%(16/50),respectively;the re-hospitalization rate of patients in the observation group was significantly lower than that in the control group(x2=4.574,P<0.05).Conclusion Pulmonary rehabilitation training can effectively improve the respiratory function of patients with COPD and sarcopenia,reduce their degree of dyspnea,enhance muscle strength,muscle mass and exercise tolerance,and reduce the re-hospitalization rate.
6.Establishment of the human α-synuclein nuclear localization signal transgenic mice
Mengchen WEI ; Shengtao FAN ; Haiting WU ; Yiwei ZHANG ; Ziou WANG ; Zhangqiong HUANG
Acta Laboratorium Animalis Scientia Sinica 2024;32(3):307-316
Objective To establish a human α-synuclein nuclear localization signal transgenic mouse model and investigate the effects of α-synuclein nuclear localization on the behavior of mice.Methods Human α-synuclein nuclear localization signal and EGFP lentiviral vectors were constructed.Transgenic mice were created with the microinjection method.Using PCR and Western Blot method to identify the genotypes and protein expression of the transgenic founder mice and their offsprings.The immunofluorescence was used to examine the localization of human α-synuclein in the mouse brain tissue.The behavioral changes of the transgenic mice were evaluated by the open field test,rotarod test,and O maze test.Results The h SNCA-NLS gene was successfully inserted into the mouse genome,the human α-syn was successfully expressed,and the human α-syn has localized with the nuclear.Further studies found that human α-synuclein nuclear localization signal transgenic mice had significant motor dysfunction,astrocyte proliferation and inflammatory response at 2 months of age and exhibited significant anxiety-like symptoms and reduced expression of the γ-aminobutyric acid(GABA)gene at 9 months of age,which persisted until 12 months of age.Conclusions A human α-synuclein nuclear localization signal transgenic mouse model has been successfully established.The mice exhibit significant motor dysfunction and anxiety-like symptoms.The successful establishment of this model provides a foundation for studying the role of α-syn nuclear localization in Parkinson's disease.
7.Application of patient-based real-time quality control using exponentially weighted moving average method on quality control procedures of thyroid function tests
Xiaoqing ZHAO ; Aijun NIU ; Xiaoling WANG ; Lingjie REN ; Haiting MAO
Chinese Journal of Laboratory Medicine 2024;47(5):526-535
Objective:To investigate the application of patient-based real-time quality control (PBRTQC) using exponentially weighted moving average (EWMA) method in internal quality control (IQC) procedures of thyroid function tests.Methods:The serum thyroid function test results of outpatients and inpatients in the Second Hospital of Shandong University from December 1, 2022 to April 30, 2023 were collected. Based on the PBRTQC professional intelligent software system, normality correction, parameter setting, program preparation and real-time operation of test data were carried out. The results of all patients who underwent thyroid function testing between May 1, 2023 and August 31, 2023 were used as the validation dataset. The estimated EWMA value of thyroid function test results and the cumulative coefficient of variation ( CV) over 4 months were calculated. The cumulative CV was compared with the criteria of precision quality standard (1/3TEa) and the CV of IQC. Westgard 2-2s and 1-3s rules were used for alarm setting. The early warning information of the EWMA quality control program were recorded and the potential causes of performance changes were analyzed. DxLab Mind software was used to conduct normal distribution statistics for all data, and the Kolmogorov-Smirnov test was performed on the test results. Results:The items related to serum thyroid function of the patients were all positively skewed. After data correction by Box-Cox method, the PBRTQC data of free triiodothyronine (FT3) and free thyroxine (FT4) were normally distributed, and their cumulative precisions ( CV) of EWMA within 4 months were 6.26% and 2.86%, respectively, both of which were lower than the precision quality target of 8.33%. However, the data of thyroid-stimulating hormone (TSH), thyroid peroxidase antibodies (TPOAb) and thyroglobulin antibody (TgAb) were still positive skewed after modification. The EWMA cumulative CV of TSH, TPOAb and TgAb were 13.16%, 15.31% and 16.77%, which were higher than the precision quality targets of 8.33%, 10% and 10%, respectively. The EWMA QC program can detect different out-of-control alarms, including FT4 false alarms due to sample source concentration and TSH result bias caused by changes in reagent performance. In addition, the EWMA QC program can also detect differences in FT3 results between different DXI800 fully automated chemiluminescence instrument instruments. Conclusions:The EWMA program based on PBRTQC professional intelligent software tools can monitor the patient data of the detection system in real time and continuously, dynamically identify and monitor the errors generated during the analysis process and give early warning. It can be used as a useful supplement for the daily IQC of thyroid function items, especially FT3 and FT4, and has good clinical application value.
8.Efficacy and safety of image-guided hypofractionated intensity-modulated radiotherapy combined with contralateral esophageal protection in treatment of unresectable stage Ⅲ non-small cell lung cancer
Tao ZHANG ; Jing XU ; Manhua DING ; Haiting XU ; Meng ZHANG ; Hua HUI ; Qiang WANG
Cancer Research and Clinic 2023;35(6):419-423
Objective:To explore the efficacy and adverse reactions of image-guided hypofractionated intensity-modulated radiotherapy (Ig-HypoRT) conbined with contralateral esophageal protection in treatment of patients with unresectable stage Ⅲ non-small cell lung cancer (NSCLC).Methods:The clinical data of 45 patients with unresectable stage Ⅲ NSCLC who were admitted to Xuzhou Cancer Hospital from January 2016 to January 2019 were retrospectively analyzed. Patients received induction chemotherapy with a platinum-based dual-drug combination regimen, followed by Ig-HypoRT with a total dose of tumor of 60-63 Gy/12- 18 times at 3.5-5.0 Gy/time. Contralateral esophagus was delineated as an organ at risk during radiotherapy, limiting V 45 Gy≤1.8 cc and V 55 Gy ≤0.4 cc. Patients' efficacy, survival and the occurrence of adverse reactions were observed. Results:Among 45 patients, there were 9 cases of complete remission, 31 cases of partial remission, 4 cases of stable disease and 1 case of disease progression, and the effective rate was 88.8% (40/45). The median follow-up time was 34 months, 45 patients had a median overall survival (OS) time of 25.0 months (95% CI 21.7-28.8 months), with 1-, 2-, and 3-year OS rates of 78.9%, 56.8% and 47.7%, respectively; the median progression-free survival (PFS) time was 18.5 months (95% CI 15.0-22.0 months), with 1-, 2- and 3-year PFS rates of 59.8%, 32.6% and 18.6%, respectively. The 3-year local recurrence rate was 9% (4/45). The incidence of grade 1-2 radioactive esophagitis was 80% (36/45); the incidence of grade 1-2 chest pain was 20% (9/45). The incidence of grade 3-4 adverse reactions were 13% (6/45), including 7% (3/45) of grade 3 pulmonary atelectasis, 4% (2/45) of grade 3 radioactive pneumonia, and 2% (1/45) of grade 4 hemoptysis. Conclusions:Ig-HypoRT combined with contralateral esophageal protection for unresectable stage Ⅲ NSCLC can improve survival rate and reduce esophageal adverse reactions of patients.
9.Analysis of clinical features of children with tendency of skin soft tissue infection to osteomyelitis
Haiting JIA ; Yuting WANG ; Lin SUN ; Tao LIU ; Jiazhi YU ; Shifu WANG
Chinese Journal of Orthopaedics 2023;43(21):1427-1432
Objective:To investigate the clinical features of the initial phase of acute osteomyelitis in children with skin and soft tissue infection as the main sign.Methods:The clinical data of 154 children with skin and soft tissue infections as the main sign from July 2017 to February 2023 were retrospectively analyzed. According to MRI, 48 children with no signs of osteomyelitis and only simple skin and soft tissue infection were included in the non-osteomyelitis group, including 28 boys and 20 girls, aged 38.50 (12.00, 93.00) months; 106 children with acute osteomyelitis with skin and soft tissue infection as the main sign were included in the osteomyelitis group, including 65 boys and 41 girls, aged 49.50 (17.50, 87.00) months. The disease course, maximum body temperature at onset, inflammatory indicators (including white blood cell count, neutrophil count, C-reactive protein, erythrocyte sedimentation rate) examined within 24 h after admission were compared between the two groups, and receiver operating characteristic (ROC) curve was used to evaluate the efficacy of each index in diagnosing osteomyelitis.Results:The white blood cell counts in the non-osteomyelitis group and osteomyelitis group were 13.72 (10.19, 19.19) ×10 9 /L and 14.74 (10.63, 18.67) ×10 9 /L, and the neutrophil counts were 7.79 (5.62, 11.91) ×10 9 /L and 9.58 (5.77, 13.67) ×10 9 /L, the difference was not statistically significant ( Z=-0.68, P=0.495; Z=-1.24, P=0.216). The course of disease in the non-osteomyelitis group and osteomyelitis group was 5.00 (3.00, 7.00) d and 5.50 (4.00, 9.00) d ( Z=-2.03, P=0.042), and the maximum body temperature at the onset of the disease was 38.50 (36.65, 39.00) ℃ and 39.00 (38.50, 40.00) ℃ ( Z=-3.72, P<0.001), C-reactive protein was 23.26 (8.16, 47.67) mg/L and 69.27 (26.28, 111.03) mg/L ( Z=-4.52, P<0.001), erythrocyte sedimentation rate was 35.00 (24.25, 53.00) mm/1 h and 61.00 (43.00, 78.00) mm/1 h ( Z=-5.06, P<0.001), the differences were statistically significant. The proportion of patients with increased C-reactive protein was 70.8% (34/48) and 92.5% (98/106) in non-osteomyelitis group and osteomyelitis group, the proportion of patients with increased erythrocyte precipitation rate was 81.3% (39/48) and 100% (106/106), and the proportion of patients with fever was 66.7% (32/48) and 100% (106/106), respectively, the difference was statistically significant (χ 2=12.61, P<0.001; χ 2=21.11, P<0.001; χ 2=39.43, P<0.001). The sensitivity, specificity and area under the curve of osteomyelitis were 84.0%, 33.3% and 0.602, respectively. The maximum body temperature at onset was 99.1%, 35.4% and 0.687, and the C-reactive protein was 57.6%, 85.4% and 0.728, respectively. Erythrocyte sedimentation rates were 84.0%, 56.3% and 0.755, respectively. Multivariate logistic regression analysis indicated that the maximum body temperature was >37.6 ℃ [ OR=22.54, 95% CI (2.66, 190.81)] and C-reactive protein was >54.59 mg /L [ OR=4.23, 95% CI (1.63, 11.01)] was an independent risk factor for predicting osteomyelitis with skin and soft tissue infection as the main sign. Conclusion:Compared to simple skin and soft tissue infections, children with osteomyelitis had a higher proportion of fever, elevated C-reactive protein, and elevated erythrocyte sedimentation rate, a longer duration of illness, and higher elevations in temperature, C-reactive protein, and erythrocyte sedimentation rate. Length of onset, maximum body temperature at onset, C-reactive protein and erythrocyte sedimentation rate had certain diagnostic efficacy in determining the tendency of skin soft tissue infection to osteomyelitis. Maximum body temperature >37.6 ℃ and C-reactive protein >54.59 mg/L may independently predict the possibility of skin soft tissue infection as osteomyelitis, and prompt Magnetic Resonance Imaging is recommended for early diagnosis and treatment in such children.
10.Analysis of a child with mucopolysaccharidoses type I due to compound heterozygous variants of IDUA gene.
Haiting JIA ; Chunhua WANG ; Yi LIU
Chinese Journal of Medical Genetics 2022;39(10):1140-1144
OBJECTIVE:
To analyze the clinical and genetic characteristics of a child with mucopolysaccharidoses type I.
METHODS:
Enzymatic and genetic testing were carried out for the child who was admitted due to contraction of fingers and flexion deformity of lower limbs. The child was subjected to target exome capture sequencing. Candidate variants were verified by Sanger sequencing of the child, her parents and two sisters.
RESULTS:
The child had featured facial dysmorphism, short stature, round head, short neck, corneal turbidity and skeletal deformity. Enzyme test was positive, and genetic testing revealed that she had harbored c.1049delA (p.N350Mfs*4) and c.1815dupT (p.V606Cfs*53) compound heterozygous variants of the IDUA gene, which were inherited from her mother and father, respectively. Her two sisters had each carried one of above variants. c.1815dupT was known to be pathogenic, whilst c.1049delA was not reported in Human Gene Mutation Database.
CONCLUSION
The compound heterozygous variants of the IDUA gene probably underlay the disease in this child, among which the c.1049delA (p.N350Mfs*4) is unreported previously.
Child
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Dwarfism
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Female
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Genetic Testing
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Humans
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Iduronidase
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Mucopolysaccharidosis I
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Mutation
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Exome Sequencing

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