Dystrophinopathies caused by variants of DMD gene are a group of muscular diseases including Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy. With the advancement of genetic testing techniques and wider implementation of genetic screening, especially the expanded carrier screening, more and more individuals carrying DMD gene variants have been identified, whereas the genetic counseling capacity is relatively insufficient. Currently there is still a lack of professional norms for genetic counseling on dystrophinopathies. In this consensus, the main points to be covered in the pre- and post-test consultation have been discussed, with an aim to provide genetic counseling guidance for the disease diagnosis, treatment, and family reproduction.

Objective:To analyze the correlation between serum ferritin (SF), perilipin, leptin and the outcome of patients with gestational diabetes mellitus (GDM).Methods:From October 2017 to December 2019, 126 patients with GDM who underwent maternity checkups in Baoding Fourth Central Hospital and gave birth were selected as the GDM group, and 82 normal pregnant women during the same period were selected as the control group for retrospective analysis. The levels of serum SF, perilipin, and leptin in the GDM group and the control group were measured and compared, and the expressions of serum indexes of patients with different blood glucose control and different pregnancy outcomes in the GDM group were measured. Pearson correlation analysis was used to explore the correlation between the expression of serum indexes in GDM patients and fasting blood glucose (FPG), 2 h postprandial blood glucose (2 h PG), and insulin resistance index (HOMA-IR). Logistic regression was used to analyze the relationship between the expression of serum indicators and adverse pregnancy outcomes in GDM patients. The receiver operating characteristic (ROC) curve was used to observe the value of single serum indexes and to predict the pregnancy outcome of GDM patients.Results:The levels of SF, perilipin and leptin in GDM group were higher than those in control group: (152.48 ± 37.64) μg/L vs. (109.27 ± 32.16) μg/L, (857.06 ± 192.35) ng/L vs. (262.83 ± 104.7) ng/L, (23.54 ± 2.28) μg/L vs.(14.62 ± 1.83) μg/L, the differences were statistically significant ( P<0.05). The levels of SF, perilipin and leptin in patients with good blood glucose control in GDM group were lower than those in patients with poor blood glucose control: (132.10 ± 36.52) μg/L vs. (176.37 ± 40.06) μg/L, (176.37 ± 40.06) ng/L vs. (946.42 ± 205.37) ng/L, (21.49 ± 2.16) μg/L vs. (25.94 ± 2.40) μg/L, the differences were statistically significant ( P<0.05). The levels of serum SF, perilipin and leptin in GDM patients were positively correlated with FPG, 2 h PG and HOMA-IR levels ( P<0.05). The levels of serum SF, perilipin and leptin in GDM patients with adverse pregnancy outcomes were higher than those in patients without occurrence: (182.86 ± 42.29) μg/L vs. (138.86 ± 35.47) μg/L, (1 013.35 ± 216.07) ng/L vs. (787.00 ± 183.49) ng/L, (27.04 ± 2.5) μg/L vs. (21.97 ± 2.07) μg/L, the differences were statistically significant ( P<0.05). Logistic regression analysis showed that serum SF, perilipin and leptin were closely related to the adverse pregnancy outcomes in GDM patients ( P<0.05). ROC curve analysis showed that the sensitivity and the specificity of SF, perilipin, leptin combined detection to predict GDM patients with adverse pregnancy outcomes was 76.92% and 83.91%. Conclusions:The serum SF, perilipin and leptin are abnormally high expression in GDM patients, and it is positively correlated with blood glucose level and HOMA-IR. Joint detection can improve the predictive value of adverse pregnancy outcomes and provide a basis for early intervention.

Objective To verify the reliability of novel 3D classification of intertrochanteric fractures by comparing the consistency between conventional and novel classifications.Methods Included for the present study were the preoperative X-ray and CT images of 189 patients with intertrochanteric fracture who had been hospitalized at Department of Orthopaedics,Beijing Chao Yang Hospital,Capital Medical University from 1 January,2017 to 1 January,2019.The patients' intertrochanteric fractures were classified by 6 orthopedic surgeons independently using Evans classification,Jensen classification,AO classification and novel 3D classification,respectively.One month later,the original images of the 189 patients were renumbered and classified again in the same way.The Kappa values between observers and within observers were calculated for the classifications of intertrochanteric fractures based on X-ray and CT images.Results In Evans classification,Jensen classification,AO classification and novel 3D classification,the interobserver Kappa values of X-ray films were 0.54 ± 0.03,0.53 ± 0.03,0.45 ± 0.03 and 0.63 ± 0.02,respectively,and the interobserver Kappa values of the CT images were 0.49 ± 0.03,0.49 ± 0.03,0.44 ± 0.04 and 0.63 ± 0.03.The intraobserver Kappa values of the X-ray films were 0.53 ± 0.02,0.54 ± 0.03,0.44 ±0.04 and 0.65 ± 0.02,respectively,and the intraobserver Kappa values of the CT images were 0.52 ± 0.03,0.52 ±0.03,0.41 ±0.02 and 0.64 ±0.03.In the novel classification based on X-ray and CT images,the interobserver and intraobserver Kappa values were both significantly higher than those in Evans,Jensen and AO classifications (P ＜ 0.05).Conclusion The novel 3D classification of intertrochanteric fractures is more reliable than the conventional ones.

Objective:To evaluate the effect of imatinib on growth impairment in children with chronic myeloid leukemia (CML-CP) in the chronic phase.Methods:From July 2018 to July 2019, questionnaires were distributed to CML children aged <18 years at the time of diagnosis who were receiving imatinib for at least 3 months or to their parents in China. The height-for-age standard deviation score (HtSDS) and the difference of standard deviation integral (△HtSDS) were used to explore the change in height with imatinib therapy.Results:The data of 238 respondents were included; 138 (58.0% ) respondents were men. The median age at the first diagnosis of CML was 11.0 years (range, 1.4-17.9 years) , and 93 (39.0% ) respondents were at the prepuberty stage. At the time of completing the questionnaires, the median age was 15.0 years (range, 2.0-34.0 years) . The median duration of imatinib therapy was 28 months (range, 3-213 months) . Among all the respondents, the mean HtSDS when completing the questionnaires (-0.063±1.361) was significantly lower than that at the time of starting imatinib treatment (0.391±1.244) ( P<0.001) . Total 71.0% respondents showed growth impairment that was more common in those starting imatinib therapy at prepubertal age than in those starting at pubertal age. Multivariate analysis showed that younger at the start of imatinib therapy ( P<0.001) and longer duration of imatinib therapy ( P<0.001) were significantly associated with severe growth impairment on imatinib therapy. Conclusions:Imatinib induced growth impairment in children with CML-CP. Younger the age of initiation and longer the duration of imatinib therapy, more obvious the effect of imatinib on growth impairment.

Restless legs syndrome,as a common sleep disorder,has nowadays long been diagnosed by self-rating scale and polysomnography.In this paper,a domestic diagnosis system for early restless legs syndrome based on deep learning is proposed,which is suitable for early patients with unstable symptoms in routine diagnosis.The hardware system is installed in the bed.And the non-contact sleeping dynamic signal acquisition is realized based on the acceleration sensors.The software system uses deep learning to classify and recognize the signals.A Fully Connected Feedforward Network based on Keras framework is constructed to recognize seven kinds of activities during sleeping.The accuracy of comprehensive classification is 97.83%.Based on former results,the periodic limb movement index and awakening index were evaluated to make the diagnosis of restless legs syndrome.
Deep Learning ; Humans ; Movement ; Polysomnography ; Restless Legs Syndrome ; diagnosis ; Sleep

Objective To explore the clinical efficacy and indications of kyphoplasty with movement and secondary en?largement of balloon for the compression fracture of vertebral body with ruptured posterior wall. Methods A retrospective analy?sis was carried out on the data of 29 patients (10 males, 19 females;age range:55-86 years old;mean age:71 years old;29 verte?bral bodies in total) who suffered from compression fracture of the thoracolumbar spine and below, and underwent kyphoplasty through the movement and secondary enlargement of balloon within the vertebral body and were followed up from January 2011 to November 2014. These patients had backache, accompanied by lowered support, limitation of movement, no symptom of nervous lesion on both lower extremities and no past history of balloon kyphoplasty. All fractured vertebral bodies were at T 11 or below, in?cluding 1 case at T11, 4 cases T12, 11 cases L1, 9 cases L2 and 4 cases L3. The causes of injury included fall (19 cases), car accident (8 cases) and unknown reasons (2 cases). All patients underwent kyphoplasty with the movement and secondary enlargement of bal?loon within the vertebral body. Photos were taken immediately after the surgery, at 1 month, 3 months, 6 months and 12 months, and these patients were assessed and analyzed in terms of vertebral height, Cobb angle, visual analogue score (VAS) and Oswestry disability index (ODI). Results The operation time (including the formation and solidification of bone cement) of 29 patients was 40 to 65 min and the mean time was 55 ± 7 min;the blood loss during operation was 2 to 15 ml and the mean blood loss was 5 ± 2 ml;the injected volume of bone cement was 2.5-7.5 ml and the mean volume was 5.5±0.5 ml. Post?operative pain was relieved and ambulation was performed under the protection of lumbar orthosis brace. Statstical analysis was conducted on VAS, ODI, vertebral height and Cobb angle before operation and at 1 month, 3 months, 6 months and 12 months after operation, showing statistically significant differences. X ray examination found that there was no alternation or displacement of bone cement location, and no change in vertebral morphology, the vertebral height and cobb angle remained the post?operative status, and posterior wall rupture of the vertebral body was recovered well. CT revealed that the morphology of bone cement was irregular and closely integrated with bone substance, and no cavity or fissure was seen. Conclusion Kyphoplasty with movement and secondary enlargement of bal?loon within the vertebral body has a good, definite clinical efficacy in treating compression vertebral fracture with incomplete pos?terior wall of the vertebral body without obvious displacement of fractured bone and symptom of nervous lesion on both lower ex?tremities. This surgery is easy to operate, and has an immediate analgesic effect, which could recover vertebral height as well as re?duce kyphosis deformity and improve patient’s prognosis.

Objective To compare the treatment of displaced intra-articular calcaneal fractures by homeopathic closed leverage anatomical plate with compression bolt through small posterior lateral approach vs.traditional open reduction and internal fixation.Methods A retrospective case control study was made on 98 cases of displaced intra-articular calcaneal fractures admitted from September 2012 to May 2015.According to the random number table,the subjects were assigned to homeopathic closed leverage anatomical plating with compression bolt through small posterior lateral approach (experiment group,58 cases,66 sides) and open reduction and internal fixation through L-shape approach (control group,40 cases,45 sides).Experiment group consisted of 50 male and eight females cases aging from 27-56 years (mean,41.9 years),and the Sanders classification was 40 cases of type Ⅱ,24 type Ⅲ and two type Ⅳ.Control group consisted of 36 male and four female cases aging from 25-58 years (mean,43.7 years),and the Sanders classification was 25 cases of type Ⅱ,18 type Ⅱ and two type Ⅳ.Operation time,bone reduction,postoperative Bohler's angle,width of the calcaneum,and incision healing were recorded.Functional outcomes were evaluated with Maryland hindfoot scoring system at last follow-up.Results Operation time was (52.6 ± 11.2) min in experiment group,significantly shorter than that in control group [(86.4 ± 14.1) min] (P ＜ 0.01).All cases were followed up from 18-50 months (mean,30.8 months).Reduction of the calcaneal posterior facet in 53 sides (80％) was graded as nearly anatomical in experiment group,and 38 sides (84％) in control group (P ＞ 0.05).Postoperative Bohler's angle was (28.0 ± 6.2) ° in experiment group,and (26.8 ± 7.0) ° in control group (P ＞ 0.05).Width of the calcaneum was (31.3 ±3.6)mm in experiment group and (34.9 ± 4.0)mm in control group (P ＜ 0.01).All cases presented satisfactory shape of the calcaneus without lateral-side impact syndrome.No case had wound infection and incision-edge necrosis in experimental group,while two cases of superficial wound infection and three cases of incision-edge necrosis were found in control group (P ＜ 0.01).At last follow-up,Maryland hindfoot score was (87.1 ± 7.6)points in experiment group and (84.9 ± 9.1)points in control group (P ＞ 0.05).Conclusion Homeopathic percutaneous leverage and anatomical plate with compression bolt through small posterior lateral approach is an effective method for treatment of displaced intra-articular calcaneal fractures,for it has advantages of minimal invasion,less operation time,good reduction and function,and less wound complications.

Objective To evaluate the clinical effectiveness of double balloon dilation in percutaneous kyphonplasty on curing vertebral?compression fractures. Methods From January 2009 to September 2013, 84 patients (94 vertebral bodies) with vertebral compression were treated by percutaneous kyphonplasty. All were fresh fractures and were injured or obvious low back pain 1 month, accompanied by local tenderness, kowtow attack painful, lumbar mobility, but no lower extremity injury numbness, activities and defecation disorders. After randomization, the double balloon dilation in percutaneous kyphonplasty method was used to treat 44 patients (49 vertebrae). In the process of performing percutaneous unilateral pedicle puncture and balloon dilata?tion of the vertebral body, the balloon has been moved some distance in the vertebral body. Then completed the perfusion of bone cement, vertebral body forming. 40 cases (45 vertebrae) were used conventional unilateral percutaneous kyphonplasty to vertebtal compression fractures. Recorded the operation time, amount of bleeding, bone?cement injection volume. Used visual analogue scale (VAS), the height of the vertebral body and Cobb angle to evaluated the curative effect. Results All 84 patients completed the operation, follow?up time was 22 months (18-24 months). In two mobile open expansion group, the operation time was about 48 min. The amount of bleeding was 8-15 ml. The average bone?cement injection volume was 5.1 ml. No patients quit the study and no bone cement?leakage cases or other side effects were observed , and no clinical accidents occurred. In a single stretching group, 40 cases (45 vertebrae) completed conventional vertebroplasty, the time of 44 min, bone cement average injection rate 3.2 ml, bleeding 10-15 ml. In two mobile open expansion group, the VAS score was 8.5 points, the height of the vertebral body height was 2.1cm, and the Cobb angle was 34°. After operation, the VAS score 2.9 points, the height of the vertebral body 2.8 cm, and Cobb 20° . In the other group, the pain was significantly relieved and the relief was satisfactor after operation.Vertebral height of 2 cm turned to the last follow?up of 2.4 cm. The Cobb angle was 32°, and the last follow?up was 27°. The VAS score, operation time and bleeding volume of the two groups were not statistically significant, and a statistically significant difference of the average bone ce?ment injection volume, postoperative vertebral height and cobb angle improved with statistical significance. A single open group were 2 cases of bone cement leakage and leakage, 1 cases of bone cement tail, the complication rate was 5.6%. Conclusion The application of double balloon dilation in percutaneous kyphonplasty to vertebral?compression fractures improve relocation of verte?bral compression fractures, increase recovery of vertebral height, and more effectively strengthen and stiffen pathological vertebral bodies, while improving kyphosis. Moreover, it can reduce pressure during bone?cement injections, minimizing the chance of over?flow and leakage, as well as the related side effects, but it will also result in an increase of bone cement?injection volume.

OBJECTIVETo determine the prevalence of mutations in the non-structural protein 5B (NS5B) of the hepatitis C virus (HCV),which are associated with natural resistance to non-nucleoside and nucleoside polymerase inhibitors (PIs),in treatment-naive hepatitis C patients in south China.

METHODSA nested PCR protocol that amplified three different regions of NS5B was used to detect the naturally occurring drag-resistant substitutions.Direct PCR sequencing was performed to analyze the sequences.

RESULTSNS5B mutations known to confer resistance to nucleoside PIs,such as A15G,S96T and S282T,were mainly detected in HCV genotype 6a (20/88,22.73%).Of the NS5B mutations known to confer resistance to non-nucleoside PIs,C316N and S365A were detected in HCV genotype lb (60/60,100% and 2/60,3.33%, respectively) and I482L and V499A were mainly detected in HCV genotype 2a (9/9,100% and 4/4,100%, respectively) and HCV genotype 6a (9/9,100% and 4/4,100%, respectively).Other NS5B mutations found in the study population included A1 5S,S365F,S365P,S368A and S368L;although none of these has been previously shown to confer resistance to PIs.

CONCLUSIONNaturally occurring dominant PI resistance mutations in NS5B exist in treatment-na(i)ve hepatitis C patients in south China and may be related to the virus genotype.

Antiviral Agents ; pharmacology ; China ; Drug Resistance, Viral ; Genotype ; Hepacivirus ; drug effects ; genetics ; Hepatitis C ; drug therapy ; virology ; Humans ; Mutation ; Viral Nonstructural Proteins ; genetics