1.Application value of machine learning models based on CT radiomics for assessing split renal function
Junjie ZOU ; Ruidong LI ; Hu SONG ; Feng WANG ; Ning DING ; Kongyuan ZHANG
Chinese Journal of Radiological Health 2025;34(1):108-113
Objective Based on the radiomics features extracted from the unenhanced CT images of the lower abdomen, a variety of machine learning models were constructed to explore their application value in the assessment of split renal function. Methods A retrospective analysis was conducted on the unenhanced CT images from 240 single kidneys in patients with clinically suspected renal dysfunction. Based on the results of single-photon emission computed tomography renal dynamic imaging, the cases were classified into the normal glomerular filtration rate group (n=118) and the decreased glomerular filtration rate group (n=122). The region of interest was outlined on the unenhanced CT images and the radiomics features were extracted. The features were selected by correlation analysis and least absolute shrinkage and selection operator, and the machine learning models were constructed based on the algorithms of decision tree, support vector machine, random forest, logistic regression, and extreme gradient boosting. Area under the receiver operating characteristic curve, accuracy, sensitivity, and specificity were calculated to compare the performance of different models. Results Sixteen radiomics features were selected for constructing the machine learning models. The support vector machine model showed relatively high performance for the assessment of split renal function on the test set, with an area under the receiver operating characteristic curve value of 0.883 (95% confidence interval: 0.804-0.961), an accuracy of 0.778, a sensitivity of 0.811, and a specificity of 0.743. Conclusion The machine learning models constructed based on unenhanced CT radiomics can be used to preliminarily assess split renal function, which provides an innovative, convenient, and safe method for clinical diagnosis and has positive significance for treatment.
2.Application of functional perforator flap transplantation with chimeric iliac bone flap in reconstruction of composite tissue defects of hand or foot.
Junjie LI ; Huihui GUO ; Bin LUO ; Huihai YAN ; Mingming MA ; Tengfei LI ; Tao NING ; Wei JIAO
Chinese Journal of Reparative and Reconstructive Surgery 2025;39(9):1098-1105
OBJECTIVE:
To evaluate the effectiveness of functional perforator flaps utilizing the superficial circumflex iliac artery as a vascular pedicle, as well as chimeric iliac bone flaps, in the reconstruction of composite tissue defects in the hand and foot.
METHODS:
A retrospective review of the clinical data from 13 patients suffering from severe hand or foot injuries, treated between May 2019 and January 2025, was conducted. The cohort comprised 8 males and 5 females, with ages ranging from 31 to 67 years (mean, 48.5 years). The injuries caused by mechanical crush incidents (n=9) and traffic accidents (n=4). The distribution of injury sites included 8 cases involving the hand and 5 cases involving the foot. Preoperatively, all patients exhibited bone defects ranging from 2.0 to 6.5 cm and soft tissue defects ranging from 10 to 210 cm2. Reconstruction was performed using functional perforator flaps based on the superficial circumflex iliac artery and chimeric iliac bone flaps. The size of iliac bone flaps ranged from 2.5 cm×1.0 cm×1.0 cm to 7.0 cm×2.0 cm×1.5 cm, while the size of the soft tissue flaps ranged from 4 cm×3 cm to 15 cm×8 cm. In 1 case with a significant hand defect, a posterior interosseous artery perforator flap measuring 10.0 cm×4.5 cm was utilized as an adjunct. Likewise, an anterolateral thigh perforator flap measuring 25 cm×7 cm was combined in 1 case involving a foot defect. All donor sites were primarily closed. Postoperative flap survival was monitored, and bone healing was evaluated through imaging examination. Functional outcomes were assessed based on the location of the defects: for hand injuries, grip strength, pinch strength, and flap two-point discrimination were measured; for foot injuries, the American Orthopaedic Foot & Ankle Society (AOFAS) score, visual analogue scale (VAS) score, Maryland Foot Score, plantar pressure distribution and gait symmetry index (GSI) were evaluated.
RESULTS:
All flaps survived completely, with primary healing observed at both donor and recipient sites. All patients were followed up 6-18 months (mean, 12.2 months). No significant flap swelling or deformity was observed. Imaging examination showed a bone callus crossing rate of 92.3% (12/13) at 3 months after operation, and bone density recovered to more than 80% of the healthy side at 6 months. The time required for bone flap integration ranged from 2 to 6 months (mean, 3.2 months). One patient with a foot injury exhibited hypertrophic scarring at the donor site; however, no major complication, such as infection or bone nonunion, was noted. At 6 months after operation, grip strength in 8 patients involving the hand recovered to 75%-90% of the healthy side (mean, 83.2%), while pinch strength recovered to 70%-85% (mean, 80%). Flap two-point discrimination ranged from 8 to 12 mm, approaching the sensory capacity of the healthy side (5-8 mm). Among the 5 patients involving the foot, the AOFAS score at 8 months was 80.5±7.3, VAS score was 5.2±1.6. According to the Maryland Foot Score, 2 cases were rated as excellent and 3 as good. Gait analysis at 6 months after operation showed GSI above 90%, with plantar pressure distribution closely resembling that of the contralateral foot.
CONCLUSION
The use of functional perforator flaps based on the superficial circumflex iliac artery, combined with chimeric iliac bone flaps, provides a reliable vascular supply and effective functional restoration for the simultaneous repair of composite bone and soft tissue defects in the hand or foot. This technique represents a viable and effective reconstructive option for composite tissue defects in these anatomical regions.
Humans
;
Male
;
Middle Aged
;
Female
;
Perforator Flap/transplantation*
;
Adult
;
Plastic Surgery Procedures/methods*
;
Hand Injuries/surgery*
;
Aged
;
Retrospective Studies
;
Foot Injuries/surgery*
;
Ilium/transplantation*
;
Iliac Artery/surgery*
;
Soft Tissue Injuries/surgery*
;
Bone Transplantation/methods*
;
Treatment Outcome
3.Study on Quantitative Evaluation Method of Balance Ability in Cancer Patients Based on Gait Features.
Junjie LIU ; Xu ZHOU ; Chao YU ; Qingqing CAO ; Zhiming YAO ; Wanqiu ZHANG ; Ling ZHANG ; Wanqing YAO ; Ning LIN
Chinese Journal of Medical Instrumentation 2025;49(4):369-374
The importance of gait assessment in the rehabilitation of cancer patients is gradually being recognized. However, quantitative analysis of balance ability in cancer patients is still limited. A total of 102 cancer patients meeting the inclusion criteria were recruited from Hefei Cancer Hospital, Chinese Academy of Sciences. Their balance ability was evaluated using the Berg Balance Scale (BBS). Gait data were collected by an electronic walkway and an IMU sensor system, including spatial-temporal and kinematic gait features such as step length, cadence, support time, and range of motion. Recursive feature elimination was used for feature selection. Ridge, Elastic Net, SVR, RF, and AdaBoost models were used to predict balance ability scores. Five-fold cross-validation was used to evaluate the performance of these models. Results show that the SVR model achieves the best performance with fifteen features (RMSE=3.22, R 2=0.91), followed by Ridge (RMSE=3.63, R 2=0.89). A method for evaluating balance ability based on gait features is proposed, providing a quantitative tool for personalized rehabilitation interventions in cancer patients.
Humans
;
Postural Balance
;
Neoplasms/rehabilitation*
;
Gait
;
Gait Analysis
;
Biomechanical Phenomena
;
Female
4.Comparative study on the clinical efficacy of intermittent oral administration of fosfomycin trometamol for a long time after removal of upper urinary infection stones
Huiqian LIU ; Ning WANG ; Junjie YAO ; Zhenyu LIU ; Zhikang YIN
Chongqing Medicine 2024;53(5):717-722
Objective To investigate the clinical efficacy and safety of long-term intermittent oral ad-ministration of fosfomycin trometamol(FMT)in the control of urinary tract infection and the reduction of stone recurrence rate after removal of upper urinary infection stones.Methods A total of 171 patients who met the inclusion criteria were enrolled and divided into the FMT group(using FMT),cephalosporin group(using cefixime),and blank group(not using antibiotics)according to the random number method,with 57 cases in each group.Finally,55 cases in the FMT group,47 cases in the cephalosporin group and 48 cases in the blank group were included in the statistical analysis,and the urinary tract infection and stone recurrence of the three groups were followed up regularly after the stone removal operation.Results There was no statisti-cal significance in the baseline data of the three groups(P>0.05).There were significant differences in the recurrence rate of urinary tract infection at the 3rd and 6th month among the 3 groups(P=0.010,P<0.001).Further pair-wise comparison showed that the recurrence rate of urinary tract infection at the 3rd month in the FMT group was lower than that in the blank group(P<0.05),but there was no statistical difference compared with the cephalosporin group(P>0.05).The recurrence rate of urinary tract infection at the 6th month in the FMT group was lower than that in the cephalosporin group and blank group(P<0.05).The recurrence rate of stones in the 1st and 3rd year of the three groups were statistically different(P= 0.028,0.015).Further pair-wise comparison showed that the 1st year stone recurrence rate of the FMT group was lower than that of the cephalosporin group and blank group(P<0.05).The 3rd year stone recurrence rate of the FMT group was lower than that of the blank group(P<0.05),but there was no statistical difference compared with the cephalosporin group(P>0.05).There was no significant difference in the total incidence of adverse drug re-action between the FMT group and cephalosporin group(P=0.131).Conclusion FMT is superior to cephalospo-rin in the control of urinary tract infection after lithotripsy for upper urinary tract infection.
5.Anterolateral thigh perforator flap combined with fascia lata transfer in reconstruction of complex tissue defects of hand or foot
Junjie LI ; Wei JIAO ; Huihui GUO ; Wei HE ; Bin LUO ; Qiwei SONG ; Mingming MA ; Huihai YAN ; Tao NING
Chinese Journal of Microsurgery 2024;47(4):423-429
Objective:To investigate the clinical effect of anterolateral thigh perforator flap (ALTPF) combined with transfer of fascia lata in reconstruction of complex tissue defects of hand and foot.Methods:From July 2021 to October 2023, 9 patients with complex tissue defects of hand and foot were treated with ALTPF combined with fascia lata in the Department of Orthopaedic Microsurgical Repair and Reconstruction of Fuyang People's Hospital Affiliated to Anhui Medical University. There were 2 males and 7 females with an average age of 28.1 (range, 4-65) years old. Three patients had extensor tendon defects in 6 digits of dorsal hands, 5 had extensor tendon defect in 10 toes of dorsal foot, 1 had a defect of anterior tibial tendon and 1 had Achilles tendon defect in posterior ankles. The sizes of soft tissue defect ranged from 8.0 cm×6.0 cm to 15.0 cm×10.0 cm, and the lengths of tendon defect ranged from 6.0 to 13.0 cm. Preoperative Doppler ultrasound was used to locate the distribution of perforating branches in the anterolateral thigh region. According to the characteristics of wound, ALTPFs and fascia lata were designed and harvested. Fascia lata with an appropriate size of 1.5 cm×8.0 cm-4.5 cm×15.0 cm were taken to bridge the defects of the tendon and the Achilles tendon. The wounds were reconstructed with flaps sized 9.0 cm×6.5 cm-18.0 cm×7.5 cm. Nine fascia lata donor sites and 8 flap donor sites were sutured directly. One donor site was treated with a skin graft of ipsilateral ilioinguinal region. The survival and complications of the flaps and donor sites were observed through outpatient follow-up visits, WeChat reviews and home visits, etc. The hand function was assessed according to the Evaluation Standard of Upper Limb Functional of Hand Surgery of Chinese Medical Association, and the foot and ankle function was assessed according to the Mazur score standard of joint range of motion and motor function.Results:All patients were included in follow-up for 4-24 (mean, 13.4) months with complete clinical data being collected. All 9 ALTPFs survived and healed primarily. A linear scar left in donor sites in 8 patients, and mild lamellar scar at skin graft in 1 patient. Texture and colour of the flaps were similar to the surrounding tissue without secondary flap thinning surgery. Combined with postoperative rehabilitation training, satisfactory function recoveries were achieved. Hand function of 3 patients were evaluated according to Evaluation Standard of Upper Limb Functional of Hand Surgery of Chinese Medical Association, 2 patients were excellent and 1 was good. Ankle and foot functions in 6 patients were evaluated according to the range of motion of ankle and foot and Mazur score standard for motor function, 4 patients were excellent and 2 were good.Conclusion:ALTPF combined with fascia lata transfer can reconstruct the complex tissue defects of hand and foot. Of which, 1 donor site can meet the requirements of 2 types of tissues reconstruction at the same time, and with minimal damage to the donor site as well as an precise reconstruction of the recipient site. It avoids staged surgery, shortens the treatment time and reduces the cost of treatment.
6.Effect and mechanism of lncRNA HCP5 on neurocyte apoptosis induced by oxygen-glucose deprivation/reoxygenation
Shanshan WANG ; Junjie LI ; Zhanping GUO ; Ning ZHANG
Chinese Journal of Behavioral Medicine and Brain Science 2023;32(9):794-801
Objective:To investigate the effect of long non-coding RNA (lncRNA) human histocompatibility leukocyte antigen complex P5 (HCP5) on the neuronal injury induced by oxygen glucose deprivation/reoxygenation (OGD/R), and to analyze its potential mechanism.Methods:SH-SY5Y cells were divided into control group (CON group, normal medium culture), model group (Model group, OGD/R), interference control group (si-NC group, OGD/R after HCP5 small interfering RNA negative control (si-NC)), HCP5 interference group (si-HCP5 group, OGD/R after HCP5 small interfering RNA (si-HCP5)), HCP5 interference+ inhibitor control group (si-HCP5+ anti-NC group, OGD/R after transfection of si-HCP5, miR-525-5p inhibitor negative control (anti-NC)), HCP5 interference+ miR-525-5p inhibitor group (si-HCP5+ anti-miR-525-5p group, OGD/R after transfection of si-HCP5, miR-525-5p inhibitor). qRT-PCR was used to detect the expression of lncRNA HCP5 and miR-525-5p in cells.The activity of SH-SY5Y cells was detected by MTT.The level of reactive oxygen species (ROS) in the cells was detected by fluorescent probe of dichlorofluorescein diacetate (DCFH-DA). The apoptosis of SH-SY5Y cells was detected by flow cytometry.Western blot was used to detect the expression of BTG2, Bcl-2 related X protein (Bax), B lymphocyte tumor 2 (Bcl-2) and cleaved caspase-3 protein.SPSS 25.0 software was used to analyze the data, and one-way ANOVA was used for comparison between multiple groups, and SNK- q test was used for further comparison between two groups. Results:There were statistically significant differences in lncRNA HCP5, miR-525-5p RNA levels and BTG2 protein expression levels among the 6 groups ( F=28.853, 59.241, 13.731, all P<0.001). Compared with the CON group, the Model group had higher level of lncRNA HCP5, lower level of miR-525-5p, and higher level of BTG2 protein (all P<0.05). Compared with the Model group, the si-HCP5 group had lower level of lncRNA HCP5, higher level of miR-525-5p, and lower level of BTG2 protein (all P<0.05). Compared with the si-HCP5+ anti-NC group, the si-HCP5+ anti-miR-525-5p group had higher level of lncRNA HCP5, lower level of miR-525-5p, and higher level of BTG2 protein (all P<0.05). There were statistically significant differences in cell activity and ROS levels among the six groups of cells ( F=16.180, 59.950, both P<0.001). The cell activity of the Model group was lower than that of the CON group (0.33±0.12, 0.63±0.11) ( P<0.05), and the ROS level was higher than that of the CON group (224.62±23.27, 100.00±0.00) ( P<0.05). The cell activity of the si-HCP5+ anti-miR-525-5p group was lower than that of the si-HCP5+ anti-NC group (0.38±0.08, 0.58±0.08) ( P<0.05), and the ROS level was higher than that of the si-HCP5+ anti-NC group (207.83±19.39, 135.27±14.36) ( P<0.05). There were statistically significant differences in the apoptosis rate and expression levels of apoptotic proteins Bcl-2, Bax, and cleared Caspase-3 among the six groups of cells ( F=27.994, 29.660, 45.000, 52.983, all P<0.001). There were no statistically significant difference in Bax, Bcl-2, cleared Caspase-3 protein levels, and apoptosis rate in SH-SY5Y cells between the Model group and the si-NC group, as well as between the si-HCP5 group and the si-HCP5+ anti-NC group (all P>0.05). Compared with the CON group, the apoptosis rate, levels of Bax and cleared Casase-3 protein in the Model group were significantly upregulated (all P<0.05), while the Bcl-2 protein level was significantly downregulated ( P<0.05). Compared with the Model group and si-NC group, the si-HCP5 group showed significant downregulation of cell apoptosis rate and levels of Bax and cleared Caspase-3 protein (all P<0.05), while the Bcl-2 protein level was upregulated ( P<0.05). Compared with the si-HCP5 group and si-HCP5+ anti-NC group, the si-HCP5+ anti-miR-525-5p group showed significant upregulation of cell apoptosis rate and levels of Bax and cleared Caspase-3 protein levels (all P<0.05), and significant downregulation of Bcl-2 protein levels ( P<0.05). Conclusion:lncRNA HCP5 may inhibit the expression of BTG2 by targeting up-regulation of miR-525-5p, thus leading to apoptosis of nerve cells in OGD/R models.
7.Clinical comparison of modified postauricular transverse incision and traditional vertical incision for microvascular decompression in the treatment of hemifacial spasm
Jing WANG ; Guoyuan YU ; Junjie ZHAO ; Huatang YANG ; Xiujie LIU ; Xiwang WANG ; Ning ZHANG ; Guangyou LI ; Kefen LI ; Fang YANG
Chinese Journal of Postgraduates of Medicine 2023;46(7):600-604
Objective:To compare the effect of modified postauricular transverse incision and traditional vertical incision for microvascular decompression in the treatment of hemifacial spasm.Methods:Prospective study method was used. A total of 116 patients with hemifacial spasm in Handan Central Hospital from January 1, 2019 to January 1, 2020 were selected, and divided into two groups according to the admission order. Both groups underwent microvascular decompression; control group (57 cases) received traditional vertical incision, while treatment group (59 cases) received modified postauricular transverse incision. The brainstem auditory evoked potential (BAEP), pain degree, surgical indicators, facial aesthetic satisfaction and complications were compared between two groups.Results:After treatment, the BAEP of latency, wave interval and wave amplitude in the two groups increased compared with that before treatment, and the BAEP of latency, wave interval and wave amplitude in the treatment group were higher than those in the control group: (1.89 ± 0.15) ms vs. (1.62 ± 0.21) ms, (7.89 ± 0.15) ms vs. (6.25 ± 0.41) ms, (1.79 ± 0.19) ms vs. (1.54 ± 0.11) ms ( P<0.05). After treatment, the visual analogue score (VAS) of patients in the two groups decreased compared with that before treatment, and the VAS of patients in the treatment group was lower than that in the control group: (1.15 ± 0.27) points vs. (2.18 ± 0.24) points ( P<0.05). The operation time, intraoperative bleeding volume and postoperative scar length of patients in the treatment group were less than those in the control group: (60.41 ± 3.81) h vs. (76.87 ± 3.87) h, (30.18 ± 4.19) ml vs. (56.87 ± 4.15) ml and (4.18 ± 1.07) cm vs. (6.87 ± 1.05) cm ( P<0.05). The satisfaction rate of patients in the treatment group was higher than that in the control group: 91.53% (54/59) vs. 71.93% (41/57) ( P<0.05). The complication rate of patients in the treatment group was lower than that in the control group: 5.08% (3/59) vs. 21.05% (12/57) ( P<0.05). Conclusions:Compared with traditional vertical incision, the modified transverse incision for microvascular decompression in the treatment of hemifacial spasm can reduce intraoperative blood loss and postoperative scar area, enhance brainstem auditory evoked potential, and improve facial aesthetics, which is worthy of recommendation.
8.Clinical efficacy of flexible ureteroscopic lithotripsy under local anesthesia and risk factors of perioperative pain
Ning WANG ; Huiqian LIU ; Junjie YAO ; Zhenyu LIU ; Yongxi TANG ; Zhikang YIN
Journal of Modern Urology 2023;28(11):988-992
【Objective】 To explore the efficacy of flexible ureteroscopic lithotripsy (FURL) under local anesthesia (LA) in the treatment of upper urinary tract calculi, and to analyze the risk factors of pain. 【Methods】 Clinical data of 255 patients treated during Apr.2022 and Sep.2022 were reviewed, including visual analogue score (VAS) of pain during ureteroscopy, sheath placement, holmium laser lithotripsy, 1 hour and 8 hours after operation. VAS ≥5 was defined as significant pain. Clinical and follow-up data of the significant pain group and non-significant pain group were analyzed with logistic regression to analyze the risk factors of pain in FURL under LA. 【Results】 Altogether 198 patients (77.6%) successfully completed the operation, and the stone-free rate (SFR) was 89.9% (178/198). The VAS of ureteroscopy was the highest (4.49±1.08), and 73 patients (28.6%) experienced significant pain. Univariate analysis showed that significant pain was associated with gender, previous surgical history, age, body mass index (BMI), education level, and ASA classification (P<0.05). Multivariate analysis showed that male (OR=2.896, 95%CI:1.413-5.933, P=0.040) and BMI≥28 (OR=7.776, 95%CI:2.268-26.657, P=0.001) were independent risk factors of significant pain, while age ≥65 years (OR=0.237, 95%CI:0.083-0.672, P=0.007) and previous surgical history (OR=0.156, 95%CI:0.032-0.754, P=0.021) were the protective factors. 【Conclusion】 It is feasible and effective to treat upper urinary tract calculi with FURL under LA. The presence of significant pain is associated with factors such as gender, age, BMI and previous surgical history.
9.Double versus triple D-J ureteral stents in management of benign secondary ureteral stricture
Huiqian LIU ; Ning WANG ; Junjie YAO ; Zhikang YIN
Journal of Modern Urology 2023;28(5):408-412
【Objective】 To compare the clinical efficacy of double and triple D-J ureteral stents in the treatment of benign secondary ureteral stricture. 【Methods】 Clinical data of 58 patients with benign secondary ureteral stricture treated at our hospital during Dec.2018 and Aug.2021 were retrospectively analyzed. According to the number of D-J ureteral stents, the patients were divided into the double group (n=29) and triple group (n=29). The clinical efficacy, complications during catheterization, and fluctuations of serum creatinine and hydronephrosis volume were compared and analyzed between the two groups. 【Results】 There were no significant differences in the general data, catheter duration and follow-up between the two groups (P>0.05). The triple group had more reduction of hydronephrosis than the double group [-22.8(32) cm3vs. -7.4(12) cm3, P=0.001] . There were no significant differences in the change of serum creatinine [-8.0(15)μmol·L-1 vs. -4.0(15) μmol·L-1, P =0.657] and incidence of complications (34.4% vs. 41.4%, P=0.588) between the two groups. The triple group had higher total effective rate than the double group (93.1% vs. 86.2%), but the difference was not statistically significant (P=0.666). There was no significant difference in the efficacy of balloon dilatation between the two groups (100.0% vs. 90.9%, P=0.407). 【Conclusion】 Both double and triple D-J ureteral stents are safe and effective in the treatment of benign secondary ureteral stenosis, but three D-J ureteral stents can better reduce hydronephrosis. Clinicians can choose appropriate indwelling scheme according to patients’ condition.
10.A case of 5p15.1-5p15.33 duplication and literature review
Junjie NING ; Lina QIAO ; Xuemei LI
Chinese Journal of Neurology 2023;56(2):151-157
Objective:To analyze the clinical and genetic features of the children with 5p15.1-5p15.33 duplication at the end of the short arm of chromosome 5 (5p).Methods:Clinical data of a 5p15.1-5p15.33 duplicative patient diagnosed in the Department of Pediatric Intensive Care Unit of West China Second University Hospital of Sichuan University in July 2021 were collected, and the characteristics of the patients of 5p duplication syndrome reported in the literatures were summarized and analyzed.Results:The boy was 1 year and 5 months old at the time of admission. The main clinical manifestations included growth restriction and developmental delay after birth, accompanied by craniofacial deformities. At 7 months old, he was diagnosed as epilepsy due to convulsive limbs. At present, he is 2 years old, still has recurrent convulsions, can not raise his head, sit alone, crawl and talk, with hypotonia. Repeated cranial magnetic resonance imaging showed agenesis of the corpus callosum. The child′s parents had normal phenotypes. His copy number variation sequencing results showed partial overlap of chromosome 5p15.1-5p15.33 (chr5:1934522-18905656), which was determined as pathogenic copy number variation according to copy number variations evaluation criteria, and no abnormality was detected in his parents. According to the retrieval strategy set in this study, 10 literatures (all in English, reporting 17 cases) were retrieved, and a total of 22 5p duplication syndrome patients (including this case and 4 cases included in databases) were included. Seventeen of the 22 patients were younger than 14 years old with a onset age of 7 (0, 18) years, and the male to female ratio was about 1.1∶1. Among the 22 patients, craniofacial malformation was found in 19 patients, developmental disorder in 18, bone/muscle dysplasia in 15, autism in 11, attention deficit hyperactivity disorder in 9, mental retardation in 8, obesity in 5, epilepsy in 5, congenital heart dysplasia in 2, hypotonia in 4, strabismus/hyperopia in 2, and corpus callosum dysplasia, endocrine dysfunction, inguinal hernia as well as umbilical hernia in 1, respectively. There were 19 cases of multiple malformation and 3 cases of single malformation.Conclusions:5p15.1-5p15.33 duplication may be the genetic cause of this child. Facial malformation, developmental delay, skeletal/muscular dysplasia, intellectual disability, autism spectrum disorder and attention deficit hyperactivity disorder are the main clinical phenotypes of 5p copy number duplication. Corpus callosum dysplasia may be an extended phenotype of chromosome duplication at this location.

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