OBJECTIVE: To carry out carrier screening for Spinal muscular atrophy (SMA) in reproductive-aged individuals from Dongguan region and determine the carrier frequency of SMN1 gene mutations. METHODS: Reproductive-aged individuals who underwent SMN1 genetic screening at the Dongguan Maternal and Child Health Care Hospital from March 2020 to August 2022 were selected as the study subjects. Deletions of exon 7 and 8 (E7/E8) of the SMN1 gene were detected by real-time fluorescence quantitative PCR (qPCR), and prenatal diagnosis was provided for carrier couples by multiple ligation-dependent probe amplification (MLPA). RESULTS: Among the 35 145 subjects, 635 were found to be carriers of SMN1 E7 deletion (586 with heterozygous E7/E8 deletion, 2 with heterozygous E7 deletion and homozygous E8 deletion, and 47 with sole heterozygous E7 deletion). The carrier frequency was 1.81% (635/35 145), with 1.59% (29/1 821) in males and 1.82% (606/33 324) in females. There was no significant difference between the two genders (χ² = 0.497, P = 0.481). A 29-year-old woman was found to harbor homozygous deletion of SMN1 E7/E8, and was verified to have a SMN1∶SMN2 ratio of [0∶4], none of her three family members with a [0∶4] genotype had clinical symptoms. Eleven carrier couples had accepted prenatal diagnosis, and one fetus was found to have a [0∶4] genotype, and the pregnancy was terminated. CONCLUSION This study has determined the SMA carrier frequency in Dongguan region for the first time and provided prenatal diagnosis for carrier couples. The data can provide a reference for genetic counseling and prenatal diagnosis, which has important clinical implications for the prevention and control of birth defects associated with SMA.
Humans ; Child ; Pregnancy ; Male ; Female ; Adult ; Homozygote ; Sequence Deletion ; Prenatal Diagnosis ; Genetic Testing ; Muscular Atrophy, Spinal/genetics* ; Survival of Motor Neuron 1 Protein/genetics* ; Genetic Carrier Screening

The anterior cruciate ligament (ACL) injury is a common sports injury that has a significant impact on knee function and patients′ mobility. With the popularity of national fitness campaign in China, the incidence of ACL injury is increasing year by year. Currently, there still lacks clinical standards or guidelines on how to choose appropriate treatment methods, surgical plans and rehabilitation protocols for ACL injury. In order to timely reflect the new treatment concept of ACL injury, standardize its diagnosis and treatment and improve the curative effect, the Sports Medicine Society of Chinese Research Hospital Association and the Editorial Board of Chinese Journal of Trauma organized domestic orthopedic and sports medicine experts to formulate the "clinical evidence-based guideline for the diagnosis and treatment of anterior cruciate ligament injury (2022 version)" based on the level of evidence-based medicine and in compliance with the principle of scientificity, practicability and advancement. The present guideline includes 12 recommendations for the diagnosis, treatment and rehabilitation of ACL injury in order to provide guidance and assistance for the clinical diagnosis and treatment of ACL injury in China.

Femoroacetabular impingement (FAI) is a common cause of hip pain and limited range of motion among young and middle-aged active adults and athletes. The acetabular labral tear and cartilage damage secondary to FAI may increase the risk of hip osteoarthritis. FAI is characterized by pathologic impact between the femoral headneck junction and the acetabular rim secondary to bony deformity. According to the pathological anatomy leading to impingement, the FAI can be divided into the femoral cam-type deformity (Cam), the acetabular over-coverage deformity (Pincer) and a combination of both. In recent years, arthroscopic osteoplasty of the femoral head-neck junction is the main way to treat the Cam deformity; However, there still remain some controversies about how to perform an adequate and effective arthroscopic femoroplasty. Based on this problem, the present article reviewed the preoperative diagnosis, intraoperative evaluation, surgical techniques and postoperative evaluation of Cam-type FAI to explore how to adequately correct Cam deformity under arthroscopy. In the present study, a total of 1928 related articles were obtained by searching PubMed, Web of Science, Cochrane library, China Knowledge Network, Wanfang Full-text Database and Weipu Science and Technology Journal Database. According to the inclusion and exclusion criteria, 43 papers were finally included. After summarizing the above literatures, it was found that anatomical structures such as Cam deformity, femoral neck anteversion, and acetabular coverage can be evaluated preoperatively by X-ray, three-dimensional CT and MRI. X-ray fluoroscopy and arthroscopic dynamic examination are performed during the femoroplasty to locate the Cam deformity and to determine whether the femoral neck offset radio and the spherical structure of femoral head are corrected, at the same time, it is necessary to consider the overall anatomy of the hip joint to achieve an adequate resection of the Cam deformity and restore the normal mobility of the hip joint.

Objective The objective of this study was to utilize proton magnetic resonance spectroscopy (1H-MRS) to assess metabolites in cerebellar nuclei in unmedicated patients with insomnia disorder. Methods 1H-MRS was performed on cerebellar nuclei in 23 unmedicated patients with insomnia disorder (insomnia group) and 18 normal sleepers (control group). N-acetylaspartate (NAA), choline-containing compound (Cho) and creatine (Cr) were measured and the ratios of NAA/Cr and Cho/Cr were determined.Pittsburgh Sleep Quality Index (PSQI) and Insomnia Severity Index (ISI) were used to assess the subjective sleep quality and insomnia severity of all subjects, while State-Trait Anxiety Inventory (STAI) and Beck Depression Inventory (BDI) were used to assess the levels of anxiety and depression of all subjects. Sleep parameters of all subjects were measured by polysomnography (PSG). Results Mean NAA/Cr ratio of right cerebellar nuclei in insomnia group was significantly lower than that in control group (1.72±0.37 vs. 2.03±0.50, t=2.280, P=0.028). Mean NAA/Cr ratio of right cerebellar nuclei was significantly higher than that of left cerebellar nuclei within control group (2.03±0.50 vs. 1.68±0.21, t=3.386, P=0.004). There was no significant difference with regard to NAA/Cr ratio between bilateral cerebellar nuclei within insomnia group (t=1.416, P=0.171). Across all subjects, PSQI global scores (r=-0.369, P=0.018), and sleep latency (r=-0.437, P=0.004) and number of awakenings after sleep onset (r=-0.432, P=0.005) measured by PSG were negatively correlated with NAA/Cr ratios of right cerebellar nuclei, while percentages of stage 3 sleep (r=0.377,P=0.015) measured by PSG were positively correlated with NAA/Cr ratios of right cerebellar nuclei,respectively. Conclusion Patients with insomnia disorder have a hemispherically lateralized metabolic disturbance of NAA/Cr in right cerebellar nuclei,indicating that patients with insomnia disorder have neuronal damage in right cerebellar nuclei.

Objective To assess the bone tunnel area at different times and sites of the tunnel after the anterior cruciate ligament(ACL) reconstruction in rabbits using Micro-CT.Methods Fifteen rabbits were performed ACL reconstruction using semitendinosus tendon autograft and randomly allocated into 3 groups and killed at 3,6,and 12 weeks after the operation.All samples undertook the micro-CT scanning(using SkyScan 1176,Bruker,U.S.A.) and were analyzed the areas of bone tunnels of femur and tibia after the 3-demension image rebuilding.For each tunnel,the area of the entrance,middle and exit of the tunnel were measured 3 times respectively and compared.Results The average area of the femoral tunnel did not change significantly with time,being 4.84 mm2,4.57 mm2 and 4.46 mm2 at 3,6 and 12 weeks after the operation(P=0.99).At the very beginning,the femoral tunnel area at the entrance was the biggest,while that of the middle was the smallest.Six weeks after the operation,significant differences were observed between the femoral tunnel area at the entrance and middle,as well as that between the exit and middle(P=0.0011,P=0.0106);However,12 weeks after the operation,significant differences were observed only between that at the entrance and middle(P=0.0227).The average tibial tunnel area increased significantly at 6 weeks(6.577 mm2) and decreased at 12 weeks(3.103 mm2) after the operation(P=0.0005).Moreover,no significant differences were observed in the average tibial tunnel area at different time points and sites(P＜0.05).At different sites,the average tibial tunnel area expanded at 6 weeks,and then declined at 12 weeks after the operation.Conclusion The bone tunnel area changes with time after the ACL reconstruction,first increasing followed by decreasing in the average tibial tunnel area.The femur and tibial tunnel have significant differences in the tunnel area at different sites,which change differently with time.The bone tunnel expansion after the anterior cruciate ligament reconstruction can be comprehensively measured repeatedly at different sites.

Objective: To observe the regeneration of palatal fracture in patients with unilateral complete cleft lip and palate. Methods: A total of 35 patients with unilateral complete cleft lip and palate were randomly included as the observation group and 20 with normal teeth as the control group. All the subjects underwent CT with high resolution. Based on the formation of bone bridge, the observation group was further divided into bone bridge formation group and non-bone bridge formation group. The regenerated bone of the bone bridge was measured. The width of the anterior segment, middle segment and posterior segment of the dental arch were measured and statistically analyzed between the observation group and the control group. Results: ①A total of 25 cases with varying degrees of regenerated bone was interconnected to form bone bridge in palatal process, while in the remaining 10 cases, bone was regenerated, but not connected to form bone bridge. ②The width of the middle section of the arch in the observation group was greater than that in the non-bone bridge formation group. The width of each segment in the observation group was less than that in the control group. Conclusions Bone was regenerated to various extent in the palate after cleft palate. The formation of bone bridge is beneficial to the development of dental arch.

Objective To investigate the effect of arthroscopy-assisted latissimus dorsi transfer (LDT) on posterosuperior massive rotator cuff tear (psMRCT) and analyze factors related to the outcome.Methods A retrospective case cohort study was conducted to analyze 31 patients with psMRCT admitted from January 2013 to December 2015.There were 13 males and 18 females,aged 52-67 years [(58.4 ± 4.5) years].The mean duration of symptoms was (1.9 ± 0.9) years.All patients received arthroscopy assisted LDT combined with rotator cuff repair.Postoperative rehabilitation training was carried out according to the standard procedures.Before operation and at the last follow-up,X-ray films were taken to measure the acromiohumeral talus,and magnetic resonance imaging was obtained to check the integrity of repaired tissue.Visual analog scale (VAS),active range of motions,Constant-Murley score and Fudan University Shoulder Score (FUSS) were measured to assess the shoulder joint function,and complications were documented.Furthermore,subgroup analysis was made according to "concomitant subscapularis tendon tear or not","concomitant pseudoparalysis or not","Goutallier Ⅲ/Ⅳ level fatty infiltration","complete or partial rotator cuff repair",and " Hamada Ⅰ/Ⅱ level acromiohumeral distance".Pearson correlation analysis was performed to detect the relationship of subgroup factors with postoperative Constant-Murley score and FUSS score.Results All patients were followed up for (38.8 ± 13.0) months.No complications including fever,infection,adhesion or neural malfunction were reported.Mean acromiohumeral distance increased from preoperative (5.4 ± 0.9) mm to (7.0 ± 1.0) mm at the last follow-up (P ＜ 0.05).MRI image showed intact fixation of rotator cuff and transferred latissimus dorsi tendon.At the last follow-up,VAS score decreased from preoperative (4.8 ± 1.4)points to (0.6 ± 0.7)points;the active range of motions was restored significantly;the Constant-Murley score improved from (32.9 ± 9.5) points to (67.4 t 6.7) points;the FUSS score increased from (53.3 ± 9.1) points to (85.1 ± 4.8) points (all P ＜ 0.01).Pearson Correlation analysis indicated that,among subgroup factors,only partial rotator cuff repair was significantly inversely associated with ConstantMurley score (P ＜ 0.05) and FUSS score (P ＜0.01),and the Constant-Murley score and FUSS score of patients with complete repair were significantly higher than those of patients with partial repair (P ＜ 0.05 and P ＜ 0.01,respectively).Conclusions For psMRCT,the effect of arthroscopy-assisted LDT is confirmed,which can relieve pain,restore range of motion and improve shoulder function.Preoperative pseudoparalysis,subacapularis tendon tear,Goutallier Ⅳ level fatty infiltration and Hmada Ⅱ level acromiohumeral distance do not significantly influence postoperative outcome.The torn rotator cuff tear should be repaired as possible.

OBJECTIVETo explore the value of multiplex ligation-dependent probe amplification (MLPA) for the detection of chromosome abnormalities in miscarriage tissues, and to correlate the result with ultrasound findings.

METHODSA total of 421 cases of spontaneous abortions and fetal deaths were detected with the MLPA method.

RESULTSAmong the 421 samples, 232 (55.11%) had an abnormal MLPA result. For the 286 cases derived from < 13 weeks pregnancy, 206 (72.03%) were abnormal. For the 49 cases from 14-19 weeks pregnancy, 14 (28.57%) were abnormal. For the 86 cases derived after 20 weeks pregnancy, 12 (13.95%) were abnormal. Among the 117 cases with abnormal ultrasound findings, 33 cases (28.21%) had an abnormal MLPA result, 28 out of the 33 cases were numerical chromosome abnormality, 4 cases were chromosome microdeletion and/or micro duplication, 1 case had both numerical abnormality and microduplication. For those with abnormal ultrasound findings for the neck region, fetal edematous syndrome, multiple malformations and digestive system, the detection rates for MLPA were 71.4%, 58.8%, 37.8%, and 9.1%, respectively. For those with abnormal finding of cardiac system, nervous system, face, skeletal system and urinary system, none was found with positive results of MLPA.

CONCLUSIONNumerical chromosomal abnormalities account for the majority of cases with spontaneous abortion. With the increase of gestational age, the occurrence of chromosomal abnormalities gradually declines. Combined ultrasound and MLPA assay can improve the detection rate and accuracy for chromosomal abormalities.

Abortion, Spontaneous ; diagnostic imaging ; genetics ; Chromosome Deletion ; Chromosome Disorders ; diagnostic imaging ; genetics ; Chromosome Duplication ; DNA ; analysis ; Female ; Fetal Diseases ; diagnostic imaging ; genetics ; Gestational Age ; Humans ; Multiplex Polymerase Chain Reaction ; methods ; Pregnancy ; Reproducibility of Results ; Sensitivity and Specificity ; Telomere ; genetics ; Ultrasonography, Prenatal ; methods

Objectives To understand the effect of intraperitoneal injection of naringenin,a SMAD3 inhibitor,on the skeletal muscle after acute contusion in a mouse model.Methods Seventy-two mice of 7-8 weeks old (20-24 g)were randomly divided into a control group,an acute contusion (B)group,an acute contusion+1％DMSO injection (C)group and an acute contusion+naringenin injection (D)group,each of 18.The acute contusion model was created by hitting the right tibialis anterior muscle in mice of all groups except the control group.Intraperitoneal injection of I％DMSO and naringenin were given to group C and D respectively every day until execution,while the 18 mice in the control group were fed without injury or injection.The time of injury was set as Day 0.After being fed for 28 days,all mice were executed and the right tibialis anterior was harvested.Western blotting was used to detect the difference of SMAD3,pSMAD3,Collagen Ⅰ,and α-SMA expression among the 3 groups.Hematoxylin-Eosin (HE)staining and Masson staining were used to detect the difference of pathological changes.Moreover,the appearance of fast twitch contraction and tetanic contraction were also documented to figure out the quality of the injured skeletal muscle.Results Compared with the control group,the SMAD3 and pSMAD3 level in injured skeletal muscle increased,but both were less in group D than group B and C.Similarly,the average level of Collagen Ⅰ and α-SMA in all three injury groups was higher than the control group,but the level of these indexes were lower in group D than that in group B and C.HE staining showed more mesenchyme in injury groups than the control group.Masson staining found the upregulation of fibrosis in injured muscles,with the area of fibrosis in group D significantly lower than group B and C.Compared with control,the injured skeletal muscle had significantly poorer fast twitch and tetanic contraction performance,with the condition of group D significantly better than group B and C.Conculsion The naringenin,a SMAD3 inhibitor,mitigates the phosphorylation of SMAD3 after acute contusion in a mouse model.The fibrosis and scar formation was alleviated,hence improving the healing of the injured skeletal muscles.

Objective To compare the outcomes of arthroscopic single-row and suture-bridge repair of medium-sized rotator cuff tears through clinical and MRI assessment.Methods Forty-five patients with medium-sized rotator cuff tears who underwent arthroscopic repair using single-row (SR,n=29) or suture-bridge (SB,n=26) technique between July 2014 to June 2015 in our hospital,were retrospectively enrolled in this study.All surgeries were performed by the same senior doctor.The functional outcomes were assessed using the rating scale of the University of California at Los Angeles (UCLA),American Shoulder and Elbow Surgeons shoulder index (ASES),Fudan University Shoulder Score (FUSS),visual analog pain scale score (VAS),and range of motion (ROM) before the operation and at the last follow-up.MRI examination was performed at the final follow-up.Results Finally 50 patients were followed up successfully,24 in SB group and 26 in SR group.There were no significant differences between the two groups in terms of age,sex,follow-up duration,and the affected side.Before the operation,no significant differences were observed between the 2 groups in all the measurements.After more than 1-year follow-up,significant improvement was found in all measurements for both groups,but without significant differences between them.MRI examination showed no re-tears in either group.According to the Sugaya's classification,there were more type Ⅰ patients in SB group than SR group (83.3％ vs 61.5％),but the difference was not significant.Conclusion Arthroscopic suture-bridge repairing of medium-sized rotator cuff tears results in safe and good early clinical outcomes.However,compared with the single-row technique,there was no significant advantage.Although the MRI examination showed a better result of rotator cuff healing in the early stage,its long-term outcomes need further studying.