1.Preliminary study on botulinum toxin type A bladder injection for the treatment of autonomic dysreflexia related to bladder dysfunction
Maping HUANG ; Hui CHEN ; Conghui HAN ; Tianhai HUANG ; Heyi ZHEN ; Xiaoyi YANG ; Qiuling LIU ; Mengxia GUO ; Hongge PAN ; Jing LIU ; Shuqing WU ; Keji XIE
Chinese Journal of Urology 2025;46(10):759-763
Objective:To investigate the clinical efficacy of botulinum toxin type A(BTX-A)bladder injection in the treatment of neurogenic detrusor overactivity(NDO)with autonomic dysreflexia(AD).Methods:The patients with spinal cord injury at or above T6,who were treated at Guangdong Provincial Work Injury Rehabilitation Hospital from January 2018 to December 2022,were included in this study prospectively. Inclusion criteria:①chronic spinal cord injury patients over 18 years old(with no progression of neurological symptoms within 3 months);② presence of NDO and AD;③ inadequate response or intolerance to oral antimuscarinic agent(M-receptor antagonists or β 3-receptor agonists)④ perform clean intermittent catheterization to empty the bladder. Exclusion criteria:① primary disease in the acute or progressive phase;② previous surgeries that would affect lower urinary tract function,such as transurethral sphincterotomy,bladder neck resection,prostatectomy,or bladder surgery;③ allergy to BTX-A or its adjuvants,or those with allergic predisposition ④ patients who were pregnant,breastfeeding,or planning for pregnancy in the near future;⑤ patients did not accept or were unable to perform intermittent catheterization. Before treatment,all patients were required to maintain 3-5 day urine diary,along with urodynamic studies(UDS),incontinence specific quality of life instrument(I-QOL)and AD symptom severity assessment,and blood pressure monitored. Key UDS parameters recorded included maximum bladder capacity,maximum detrusor pressure during filling phase,changes in maximum systolic blood pressure(SBP)relative to baseline(ΔSBP)during UDS examination,and the frequency of 24-hour blood pressure exceeding baseline by 20 mmHg. After general anesthesia or epidural anesthesia,BTX-A(200 U)was injected into the bladder at 30 points(including the triangle)under the cystoscope using a special injection needle,6.7 U per injection,and then the catheter was kept for 3-5 days after treatment. Three months later,relevant indicators were collected and compared with pre-treatment data. Results:A total of 43 patients were included in this study,including 34 males and 9 females. The age was(39.23±13.17)years old and the disease course was(2.69±3.27)years old. There were 33 cervical and 10 thoracic cases. The American Spinal Injury Association Injury Scale score distribution was as follows:26(60%)A,4(9%)B,9(21%)C,and 4(9%)D. The presence of AD was confirmed in all patients during urodynamic examination(UDS),that was the systolic blood pressure(SBP)suddenly increased and exceeded 20 mmHg(1 mmHg = 0.133 kPa). Before treatment,The AD symptoms severity score(consist of headache,sweating,goose bumps,anxiety and palpitation)were(14.53±2.51),Bladder-related AD frequency was 10.67 episodes/day. Baseline SBP was(103.51±9.64)mmHg,the maximum SBP was(150.40±22.75)mmHg,and the change in SBP(ΔSBP)from maximum to baseline SBP during UDS examination was(43.83±21.01)mmHg. The UDS indicated that the maximum detrusor pressure during storage phase was(54.95±24.68)cmH 2O,and the bladder capacity was(131.70±75.29)ml. Bladder diary showed the volume of catheterization each time from was(181.16±49.86)ml,and The I-QOL score was(44.07±8.60). Three months after treatment,the AD symptoms severity score(consist of headache,sweating,goose bumps,anxiety and palpitation)were(11.37±2.39). The frequency of bladder-related AD episodes was(7.51±2.37)episodes/day,showing statistically significant differences compared to pre-treatment( P<0.05).The SBP before UDS examination was(102.12±10.28)mmHg,with no statistically significant difference from baseline( P = 0.518). The maximum SBP in perfusion phase and the ΔSBP were(132.84±16.30)mmHg and(28.72 ± 14.02)mmHg,respectively,both demonstrating statistically significant differences( P < 0.05). The UDS examination revealed that the maximum detrusor pressure during the storage phase was(29.77±13.72)cmH 2O,showed a significant decrease,and the bladder capacity was(272.63±79.75)ml,which were both statistically different before and after surgery. Bladder diary showed the volume of catheterization each time was(326.74±63.71)ml;I-QOL score was(71.86±11.45),both were significant different after treatment( P < 0.01). Conclusion:BTX-A intravesical injection in the treatment of NDO can also alleviate the severity and frequency of bladder related AD.
2.Recognition of normal fetal echocardiogram based on an explainable denosing deep learning model
Shuhao SONG ; Shi ZENG ; Ganqiong XU ; Yang YANG ; Yushan LIU ; Pan YANG ; Heyi TAN
Chinese Journal of Ultrasonography 2025;34(6):511-517
Objective:To evaluate the value of the proposed interpretable denoising deep learning model-grouped sharing convolutional attention-visual transformer(GSCAViT)for classifying normal fetal echocardiograms.Methods:A total of 2 501 images from 358 fetuses who underwent cardiac ultrasound examinations at Xiangya Second Hospital of Central South University from January to November 2024 were retrospectively analyzed. GSCAViT was constructed based on fetal echocardiograms from the three-vessel and trachea view,apical four-chamber view,long-axis view of the aortic arch,bicaval view,left ventricular outflow tract view,three-vessel view and right ventricular outflow tract view were compared with both baseline and improved models in the validation set to assess the performance of the classification echocardiography in terms of accuracy,precision,recall and F1-score. Its generalizability across test sets was assessed using the area under the ROC curve(AUC),sensitivity,specificity and F1-score. The impact of image features was interpreted using SHapley Additive exPlanations(SHAP).The effectiveness of the GSCA module was compared through visual analysis,image parameter metrics and classification performance.Results:The GSCAViT model achieved classification performance for fetal echocardiograms second only to MaxViT,with an accuracy of 97.1%,precision of 97.1%,recall of 97.0%,and an F1-score of 97.0%. In the E10,E20 and E8 test sets,the AUCs of GSCAViT for the prediction of 7 types of fetal echocardiograms were 0.994,0.928 and 0.932,the sensitivities were 99.4%,81.3% and 72.9%,the specificities were 99.7%,96.8% and 94.8%,the F1-scores were 99.4%,81.3% and 67.6%,respectively. SHAP visualization indicated that the model could identify key structural features within the images. Images processed by the denoising-guided group-sharing convolutional attention module best captured and enhanced important regional features,achieving the highest contrast-to-noise ratio,peak signal-to-noise ratio and optimal classification performance,which demonstrated the module's effectiveness.Conclusions:The proposed GSCAViT model exhibits superior performance in classifying seven types of normal fetal echocardiograms compared to the baseline and some improved models. Furthermore,SHAP visualization enhances the interpretability of the classification results,and visual comparisons,image parameter analyses,as well as classification performance metrics confirming the effectiveness of the denoising-guided group-sharing convolutional attention module in the visual transformer model.
3.Preliminary study on botulinum toxin type A bladder injection for the treatment of autonomic dysreflexia related to bladder dysfunction
Maping HUANG ; Hui CHEN ; Conghui HAN ; Tianhai HUANG ; Heyi ZHEN ; Xiaoyi YANG ; Qiuling LIU ; Mengxia GUO ; Hongge PAN ; Jing LIU ; Shuqing WU ; Keji XIE
Chinese Journal of Urology 2025;46(10):759-763
Objective:To investigate the clinical efficacy of botulinum toxin type A(BTX-A)bladder injection in the treatment of neurogenic detrusor overactivity(NDO)with autonomic dysreflexia(AD).Methods:The patients with spinal cord injury at or above T6,who were treated at Guangdong Provincial Work Injury Rehabilitation Hospital from January 2018 to December 2022,were included in this study prospectively. Inclusion criteria:①chronic spinal cord injury patients over 18 years old(with no progression of neurological symptoms within 3 months);② presence of NDO and AD;③ inadequate response or intolerance to oral antimuscarinic agent(M-receptor antagonists or β 3-receptor agonists)④ perform clean intermittent catheterization to empty the bladder. Exclusion criteria:① primary disease in the acute or progressive phase;② previous surgeries that would affect lower urinary tract function,such as transurethral sphincterotomy,bladder neck resection,prostatectomy,or bladder surgery;③ allergy to BTX-A or its adjuvants,or those with allergic predisposition ④ patients who were pregnant,breastfeeding,or planning for pregnancy in the near future;⑤ patients did not accept or were unable to perform intermittent catheterization. Before treatment,all patients were required to maintain 3-5 day urine diary,along with urodynamic studies(UDS),incontinence specific quality of life instrument(I-QOL)and AD symptom severity assessment,and blood pressure monitored. Key UDS parameters recorded included maximum bladder capacity,maximum detrusor pressure during filling phase,changes in maximum systolic blood pressure(SBP)relative to baseline(ΔSBP)during UDS examination,and the frequency of 24-hour blood pressure exceeding baseline by 20 mmHg. After general anesthesia or epidural anesthesia,BTX-A(200 U)was injected into the bladder at 30 points(including the triangle)under the cystoscope using a special injection needle,6.7 U per injection,and then the catheter was kept for 3-5 days after treatment. Three months later,relevant indicators were collected and compared with pre-treatment data. Results:A total of 43 patients were included in this study,including 34 males and 9 females. The age was(39.23±13.17)years old and the disease course was(2.69±3.27)years old. There were 33 cervical and 10 thoracic cases. The American Spinal Injury Association Injury Scale score distribution was as follows:26(60%)A,4(9%)B,9(21%)C,and 4(9%)D. The presence of AD was confirmed in all patients during urodynamic examination(UDS),that was the systolic blood pressure(SBP)suddenly increased and exceeded 20 mmHg(1 mmHg = 0.133 kPa). Before treatment,The AD symptoms severity score(consist of headache,sweating,goose bumps,anxiety and palpitation)were(14.53±2.51),Bladder-related AD frequency was 10.67 episodes/day. Baseline SBP was(103.51±9.64)mmHg,the maximum SBP was(150.40±22.75)mmHg,and the change in SBP(ΔSBP)from maximum to baseline SBP during UDS examination was(43.83±21.01)mmHg. The UDS indicated that the maximum detrusor pressure during storage phase was(54.95±24.68)cmH 2O,and the bladder capacity was(131.70±75.29)ml. Bladder diary showed the volume of catheterization each time from was(181.16±49.86)ml,and The I-QOL score was(44.07±8.60). Three months after treatment,the AD symptoms severity score(consist of headache,sweating,goose bumps,anxiety and palpitation)were(11.37±2.39). The frequency of bladder-related AD episodes was(7.51±2.37)episodes/day,showing statistically significant differences compared to pre-treatment( P<0.05).The SBP before UDS examination was(102.12±10.28)mmHg,with no statistically significant difference from baseline( P = 0.518). The maximum SBP in perfusion phase and the ΔSBP were(132.84±16.30)mmHg and(28.72 ± 14.02)mmHg,respectively,both demonstrating statistically significant differences( P < 0.05). The UDS examination revealed that the maximum detrusor pressure during the storage phase was(29.77±13.72)cmH 2O,showed a significant decrease,and the bladder capacity was(272.63±79.75)ml,which were both statistically different before and after surgery. Bladder diary showed the volume of catheterization each time was(326.74±63.71)ml;I-QOL score was(71.86±11.45),both were significant different after treatment( P < 0.01). Conclusion:BTX-A intravesical injection in the treatment of NDO can also alleviate the severity and frequency of bladder related AD.
4.Recognition of normal fetal echocardiogram based on an explainable denosing deep learning model
Shuhao SONG ; Shi ZENG ; Ganqiong XU ; Yang YANG ; Yushan LIU ; Pan YANG ; Heyi TAN
Chinese Journal of Ultrasonography 2025;34(6):511-517
Objective:To evaluate the value of the proposed interpretable denoising deep learning model-grouped sharing convolutional attention-visual transformer(GSCAViT)for classifying normal fetal echocardiograms.Methods:A total of 2 501 images from 358 fetuses who underwent cardiac ultrasound examinations at Xiangya Second Hospital of Central South University from January to November 2024 were retrospectively analyzed. GSCAViT was constructed based on fetal echocardiograms from the three-vessel and trachea view,apical four-chamber view,long-axis view of the aortic arch,bicaval view,left ventricular outflow tract view,three-vessel view and right ventricular outflow tract view were compared with both baseline and improved models in the validation set to assess the performance of the classification echocardiography in terms of accuracy,precision,recall and F1-score. Its generalizability across test sets was assessed using the area under the ROC curve(AUC),sensitivity,specificity and F1-score. The impact of image features was interpreted using SHapley Additive exPlanations(SHAP).The effectiveness of the GSCA module was compared through visual analysis,image parameter metrics and classification performance.Results:The GSCAViT model achieved classification performance for fetal echocardiograms second only to MaxViT,with an accuracy of 97.1%,precision of 97.1%,recall of 97.0%,and an F1-score of 97.0%. In the E10,E20 and E8 test sets,the AUCs of GSCAViT for the prediction of 7 types of fetal echocardiograms were 0.994,0.928 and 0.932,the sensitivities were 99.4%,81.3% and 72.9%,the specificities were 99.7%,96.8% and 94.8%,the F1-scores were 99.4%,81.3% and 67.6%,respectively. SHAP visualization indicated that the model could identify key structural features within the images. Images processed by the denoising-guided group-sharing convolutional attention module best captured and enhanced important regional features,achieving the highest contrast-to-noise ratio,peak signal-to-noise ratio and optimal classification performance,which demonstrated the module's effectiveness.Conclusions:The proposed GSCAViT model exhibits superior performance in classifying seven types of normal fetal echocardiograms compared to the baseline and some improved models. Furthermore,SHAP visualization enhances the interpretability of the classification results,and visual comparisons,image parameter analyses,as well as classification performance metrics confirming the effectiveness of the denoising-guided group-sharing convolutional attention module in the visual transformer model.
5.Study on the normal reference value of the angle between the left ventricular inflow and outflow tract in normal fetuses in the second and third trimesters
Heyi TAN ; Shi ZENG ; Yang YANG ; Dan ZHOU ; Yushan LIU ; Jiawei ZHOU ; Ganqiong XU
Chinese Journal of Ultrasonography 2024;33(5):421-426
Objective:To establish the reference value of the angle between the left ventricular inflow and outflow tract (LIOA) in normal fetuses in the second and third trimesters, and observe the correlation between fetal LIOA and gestational age, cardiac axis, cardiac size, and estimated fetal weigh (EFW).Methods:Fetal LIOA in normal fetuses with gestational age from 16 weeks to 39 + 6 weeks were obtained prospectively by two-dimensional ultrasound in the Second Xiangya Hospital from November 2022 to April 2023. Pearson′s correlation coefficient was used to analyze the correlation between fetal LIOA and gestational age, cardiac axis, cardiovascural size and EFW. Results:The LIOA range of 651 normal fetuses was (44.39±7.67)°, and it was found that LIOA was not related to gestational age. LIOA mildly positively correlated with the cardiac axis ( r=0.22, P<0.05) while not correlated with gestational age, cardiovascural size or EFW (all P>0.05). Conclusions:The range of LIOA in normal fetuses were established. Fetal LIOA is constant in the second and third trimesters and it is mildly positively correlated with the cardiac axis. Evaluating fetal LIOA may also provide information for future research on the fetal aortic hemodynamic development.
6.Effects of parental rearing style on sleep problems in preschool children
ZHANG Yelei, YE Heyi, DENG Hong, ZHANG Yi, WU Xiaoyan, LIU Huanzhong
Chinese Journal of School Health 2021;42(12):1847-1851
Objective:
To examine the effects of parental rearing style and its consistency on sleep problems of preschool children and to provide theoretical basis for making early family intervention measures.
Methods:
A questionnaire survey was conducted among 2 744 children and their parents in 19 kindergartens in Anqing city. Parental Behavior Inventory (PBI) was used to investigate the rearing style of parents, and Chinese version of Children s Sleep Habit Questionnaire (CSHQ) was used to evaluate the incidence of sleep among preschoolers.
Results:
Preschool children s overall rate of sleep disorder was 15.5%, and accompanied by sleep duration disorder (70.0%), sleep resistance (64.2%), sleep latency (38.7%), anxiety (15.5%), daytime sleepiness ( 10.1 %). Living in urban areas, parents smoking and drinking behaviors, and parents parenting style all affected preschoolers sleep ( P <0.05). Multivariate Logistic regression analysis showed that fathers active rearing style was negatively correlated with preschool children s sleep problems such as delayed sleep impedance and short sleep duration, while mothers active rearing style was negatively correlated with preschool children s sleep problems such as sleep resistance and night wake up ( P <0.05). There was a positive correlation between father s severe rearing style and preschoolers sleep resistance, sleep duration, short sleep disordered breathing, daytime sleepiness and total sleep problems, and mother s severe rearing style and preschoolers sleep duration, short sleep anxiety, night wakefulness, daytime sleepiness and total sleep problems ( P <0.05). Consistent rate of negative rearing patterns was a risk factor for short sleep duration in preschoolers ( OR =2.19,95% CI =1.12-4.28, P =0.02).
Conclusion
The detection rate of sleep problems in preschoolers is high. Parental supportive involvement has a positive effect on preschoolers sleep, while parental coercion hostile parenting has a negative effect on preschoolers sleep. The consistent rate of rearing styles affects the sleep duration of preschoolers.
7.Persistent inflammation, immune-suppression and catabolism syndrome secondary to sepsis in elderly patients in medical intensive care unit:a retrospective study
Heyi SU ; Zexun MO ; Xing LIU ; Zhenhui GUO
Chinese Journal of Geriatrics 2019;38(8):869-874
Objective To investigate the clinical characteristics,risk factors and prognosis of patients with persistent inflammation,immune-suppression and catabolism syndrome(PICS)secondary to sepsis in medical intensive care unit(MICU)in initial stage,in order to increase the understanding of PICS and provide the reference experience for the early screening of high-risk patients.Methods A total of 298 elderly patients diagnosed as sepsis admitted into MICU from Aug.2013 to Dec.2016 were retrospectively studied.Of them,97 patients meeting inclusion criteria were ultimately enrolled and separated into the PICS group and the non-PICS group.General and clinical data and laboratory indexes at first day admitted into MICU were compared between the two groups.The indexes between the two groups were analyzed statistically by multivariate logistic regression analysis.The survival-time distributions were estimated by Kaplan-Meier model,and the difference in prognosis was compared between the two groups.Results Of 97 patients,36 patients (37.1%)met the diagnosis of PICS.The acute physiological function and chronic health evaluation Ⅱ (APACHE Ⅱ) score had a significant difference between the two groups(27.7±5.8 vs.22.9±6.0,P<0.01).The grade of acute gastrointestinal injury(AGI)were significantly higher in the PICS group than in the non-PICS group(P <0.05).Platelet counts,helper T cell counts and CD4+/CD8+ ratios were significantly lower in the PICS group than in the non-PICS group[(164.39 ± 84.29) × 109/L vs.(235.16 ± 126.89) × 109/L,(238.97± 181.11)/μl vs.(385.93±308.22)/μl,(1.58 ± 1.13) vs.(2.12± 1.23),all P <0.05)].Multivariable logistic regression analysis revealed that APACHE Ⅱ score was an independent risk factor for PICS and its optimal cut-off value for predicting PICS was 26.5.Kaplan-Meier analysis showed that the overall survival was poorer in the PICS group than in non-PICS group in the whole observation phase.The further Kaplan-Meier analysis on survival time of subdivisions showed that the survival of patients at 90-day and 180-day after admission and in stage 1-3 during one year had significant differences between the two groups (P < 0.05).While the survival of patients at 28-day after admission had no significant difference between the two groups(P>0.05).Conclusions The elderly patients with persistent inflammation,immune-suppression,and catabolism syndrome(PICS) secondary to sepsis in medical intensive care unit(MICU)show the higher levels of APACHE Ⅱ score and AGI grade,and lower values of platelet counts,CD4+ T cell counts and CD4+/CD8+ ratio in initial stage.And APACHE Ⅱ score is an independent risk factor for PICS in elderly sepsis patients,and the optimal cut-off value of APACHE Ⅱ score for predicting PICS is 26.5.The prognosis for advanced stage and long term prognosis are poor.It is essential to use APACHE Ⅱ and so on,to timely identify and intervene PICS.
8.Ultrasound-guided intraabdominal aortic balloon control technique for reducing intraoperative hemorrhage of high-risk placenta previa
Junle LIU ; Yanggang HU ; Heyi DING ; Jinhui DING ; Dapeng FU
Chinese Journal of General Surgery 2018;33(9):776-779
Objective To explore the value of ultrasound-guided balloon control technique in abdominal aorta for reducing intraoperative hemorrhage in high-risk placenta previa undergoing cesarean section.Methods From Aug 2013 to Oct 2017,40 cases were admitted,among them,16 cases were treated with ultrasound-guided towed balloon prophylactic control technique of abdominal aorta (the study group) before cesarean,and 24 cases did not receive balloon occlusion (the control group) during the cesarean.Clinical data were compared between the two groups.Results The time used for uterine suture (t =10.34,P =0.01),the amount of intraoperative blood loss (t =9.51,P =0.01) and blood transfusion (t =3.41,P=0.005)in the two groups were all statistically different.While the differences in PT (t =1.02,P =0.32),ALT (t =0.54,P =0.59),AST(t =0.91,P =0.37),creatinine(t =0.75,P =0.46) were not statistically significant between the two groups.Conclusion Ultrasound-guided abdominal aortic balloon control technique can reduce the blood loss significantly in cesarean section with high-risk placenta previa.
9.Transperineal ultrasonography in evaluation of pelvic floor structure changes in post-hysterectomy patients
Lixian WANG ; Heyi LIU ; Xiaoxuan WEI ; Jia WEI ; Cuiju WANG
Chinese Journal of Medical Imaging Technology 2018;34(3):416-418
Objective To evaluate the changes in anterior chamber structure of pelvic floor before and after total hysterectomy with transperineal ultrasonography.Methods Forty-five patients who would receive total hysterectomy were enrolled.The structures of the anterior pelvic floor were observed with transperineal ultrasonography 1 day pre-operation and 1,3 and 6 months after operation.The parameters at rest and max Valsalva were recorded and calculated,including the bladder neck-symphyseal distance (BSD),bladder neck descent (BND),urethral rotation angle (UR) and posterior urethrovesical angle (PUA).The changes of the parameters at different time were analyzed statistically.Results BSD at max Valsalva,BND,UR and PUA at max Valsalva at different time were significantly different (all P<0.05).Compared with those preoperative,BSD at max Valsalva decreased (H=2.627,P=0.009) and BND increased (q=-3.095,P=0.002) 3 months after operation,BSD at max Valsalva decreased (H=4.379,P<0.001),BND (q=-4.379,P< 0.001),UR (H=-2.861,P=0.004) and PUA at max Valsalva (q=-2.686,P=0.007) increased 6 months after operation.The remaining parameters were not significantly different between every two time points (all P > 0.05).Conclusion The changes of BSD,BND at max Valsalva,UR and PUA at max Valsalva occur at the initial period after the total hysterectomy.The total hysterectomy can damage the pelvic floor and early pelvic floor rehabilitation need to he provided.
10.X-linked dominant protoporphyria:report of a pedigree and detection of ALAS2 gene mutations
Tao WANG ; Qi DONG ; Chenchen XU ; Xiping ZHOU ; Yuehua LIU ; Hongwei WANG ; Qiuning SUN ; Hongzhong JIN ; Heyi ZHENG ; Yunshu OUYANG ; Chunjia LI ; Rongrong CHEN ; Hongbing ZHANG ; Yaping LIU ; Yongwei WANG ; Guangjun NIE
Chinese Journal of Dermatology 2016;49(10):702-705
Objective To report a pedigree with X?linked dominant protoporphyria(XLDPP), and to detect 5?aminolevulinic acid synthetase 2(ALAS2)gene mutations in this pedigree. Methods A clinical investigation was performed in a pedigree with XLDPP, and relevant data were collected from family members. A next?generation sequencing method was applied to screen possible mutation sites, and Sanger sequencing was performed to determine pathogenic gene mutations. Dermoscopy was conducted to observe skin lesions in the patients with XLDPP, and the Fotofinder system and very high frequency (VHF) ultrasound system were utilized to assess the severity of photodamage. Liver and gallbladder ultrasonography as well as blood examination were performed for all the family members. Results A deletion mutation, c.1706?1709ΔAGTG, was detected in the ALAS2 gene on the X chromosomes of all the patients in this family, which led to replacement or loss of 19-20 C?terminal residues through transcriptional frameshifting, and eventually caused an increase in ALAS2 activity. In the patients with XLDPP, skin photodamage was relatively severe;protoporphyrin?induced hepatobiliary damage was observed and aggravated with age;anemia and iron deficiency occurred sometimes. Conclusion The deletion mutation c.1706?1709ΔAGTG of the ALAS2 gene may be the underlying cause of XLDPP in this pedigree.


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