Objective:To discuss the clinical phenotype and genotype characteristics of two pediatric patients with late-onset methylmalonic acidemia(MMA)cblC type,and to provide the basis for early clinical recognition of MMA.Methods:The clinical data of two pediatric patients with late-onset MMA cblC type were collected,including clinical phenotypes,biochemical detection results,blood and urine organic acid analyses,neuroimaging,electroencephalograms,genotypes and so on.The characteristics of the disease were analyzed in combination with the related literature review.Results:Both pediatric patients were female,with onset in adolescence.Patient 1 presented with psychiatric symptoms,while pediatric patient 2 presented with cognitive impairment.Both pediatric patients experienced weakness in both lower limbs and speech disorders.At initial diagnosis,the serum homocysteine(Hcy)levels were severely increased,the urine methylmalonic acid levels were increased,the brain magnetic resonance imaging results indicated brain atrophy,and the electroencephalogram results showed the increased slow wave activity in both cerebral hemispheres.The pediatric patient 2 exhibited epileptiform discharges in bilateral frontal and temporal regions.The genetic testing results showed the c.482G＞A mutation in the MMACHC gene.Both two pediatric patients were treated with intramuscular injections of vitamin B12,along with oral folic acid,vitamin B6,levocamitine,and betaine.The symptoms of two patierts were improved,the serum Hcy levels were decreased,and the urine methylmalonic acid levels returned to normal.Conclusion:The phenotype of late-onset MM A cblC type is diverse,primarily involving neuropsychiatric impairment,with the c.482G＞A mutation being the most common genotype.The increasing of serum Hcy levels and brain atrophy can serve as the biomarkers for the early recognition of late-onset cblC type pediatric patients.

Objective:To investigate the risk factors of recurrence of febrile seizures within 24 hours, so as to provide clinical evidence for early identification of children with risk factors and taking interventions.Methods:A total of 384 children with febrile seizures admitted to the Department of Pediatrics at Hebei General Hospital from June 2019 to June 2021 were selected as the study subjects, and were divided into single seizure group and recurrent seizures group.The clinical data of two groups and the risk factors of recurrent seizures were analyzed retrospectively.Results:A total of 384 children, aging from six months to five years, were diagnosed with febrile seizures.There were 296 cases in the single seizure group and 88 cases in the recurrent seizures group.First seizure, the age of the first sezures, temperature, duration of seizure ≥15 minutes, positive family history and C-reactive protein levels showed statistically significant differences between two groups(all P<0.05). Logistic regression analysis showed that non-first seizure( OR=2.085, 95% CI 1.232-3.529, P=0.006), the age of first seizure( OR=0.970, 95% CI 0.948-0.993, P=0.010), duration of seizure ≥15 minutes( OR=3.587, 95% CI 1.497-8.596, P=0.004) and positive family history( OR=1.892, 95% CI 1.126-3.180, P=0.016) were risk factors of recurrence of febrile seizures within 24 hours.The ROC curve analysis showed that the combination of four risk factors had a higher predictive value, and the area under curve was 0.974. Conclusion:Non-first seizure, the age of first seizure, cluration of seizure ≥15 minutes and positive family history are the risk factors of recurrence of febrile seizures within 24 hours.Children with four risk factors are more likely to have recurrent seizure, and could be used as an indicator for individualized prediction.

Objective:To investigate the clinical and genetic characteristics of Prader-Willi syndrome (PWS).Methods:The clinical data and genetic characteristics of 2 children with PWS diagnosed in Hebei Provincial People's Hospital were retrospectively analyzed, and the relevant literature was reviewed.Results:Case 1, male, aged 6 years and 3 months, was presented to the hospital because of short stature, mild mental retardation, dysarthria, scoliosis, cryptorchidism, micropenis, long skull, narrow face, almond eyes, small mouth, thin upper lip, downward corners of the mouth, fair skin. He had hypotonia and feeding difficulties in infancy, and gradually became hyperappetitive. Bilateral cryptorchidism surgery was performed at 1.5 years old, but the effect was not good. Case 2, male, aged 4 years, presented to the hospital mainly due to obesity, hyperappetite, excessive weight gain, backward language and cognitive function, dysarthria, and scoliosis.The infant had feeding difficulties in the early stage, and bilateral cryptorchidism surgery at the age of 2 was not effective.Methylation specific polymerase chain reaction and methylation specific multilink probe amplification were used to detect the loss of the parent fragment in the key region (15q11-13) of PWS, which confirmed Prader-Willi syndrome.Conclusion:PWS is a rare hereditary disease with complex and diverse clinical manifestations and different characteristics in different age groups. It is highly susceptible to unexplained hypotonia and feeding difficulties in infancy. Children with short stature and obesity should be alert to the disease, which can be clearly diagnosed by molecular genetic techniques.

Objective:To summarize the genetic characteristics of a case of spinal muscular atrophy type 1c.Methods:The case data of a child with spinal muscular atrophy type 1c was retrospectively analyzed, and the genetic analysis and literature review were carried out.Results:The patient, male, started at the age of 2 months, and showed gross motor development backwardness and low muscular tension. Multiplex connection probe amplification technique showed that the child had homozygous deletion mutation in exon 7-8 of SMN1 gene, and there was duplicate mutation in exon 7-8 of SMN2 gene. The number of copies of exon 7/8 was 3/3. His father was a heterozygous deletion carrier of SMN1 gene, and there was homozygous mutation in exon 8 of SMN2 gene. The number of copies of exon 7/8 was 2/3. His mother did not find abnormal exons of SMN1 gene, and the number of copies of exon 7/8 of SMN2 gene was 1/1.Conclusion:Spinal muscular atrophy lacks specific manifestations in the early stage, and the diagnosis mainly depends on genetic testing. Clinicians need to be vigilant, strengthen the early understanding of the disease, and improve the prognosis.

" Day surgery hospital-community joint follow-up model " results newly from the deepening implementation of the hierarchical medical system policy. It is designed to follow up the patients discharged from hospital but not fully recovered in time to ensure the prevention of adverse events after surgery. It can also improve the quality and efficiency of follow-up, and ensure the safety and integrity of the whole day operation management. In this context, through a comparative study of 720 patients discharged from daytime surgery in the region, patients in the combined follow-up group were followed up by telephone on the 3rd day after the operation by nurses from the day surgery ward. On the 10th and 20th days after the operation, the family doctor from the community health service center will visit the patient at home and follow up the patient by telephone. One month later, the patient returned to the hospital for follow-up consultation. Follow-up results show day surgery hospital-community joint mode as a helpful aid in keeping track of the patients postoperative rehabilitation, reducing complications and handling in time, while improving the ambulatory surgery perioperative safety.

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 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.

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.

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 discuss the effect of arthroscopic latissimus dorsi transfer with rotator cuff repair for posterosuperior irreparable massive rotator cuff tear (iMRCT).Methods From September 2014 to December 2015,data of 13 iMRCT including 4 male and 9 female who underwent arthroscopic latissimus dorsi transfer with rotator cuff repair were retrospectively analyzed.The age was ranged from 54 to 65,with a mean age of 58.5±4.3.The mean duration of symptom was 2.1±0.6 years.During operation,complete or partial rotator cuff repair was performed,followed by complete repair of injured subscapularis tendon and tenotomy or tenodesis of the long head of biceps tendon.An arc incision was then made in the axillary fossa to harvest latissimus dorsi tendon from its humeral insertion.The tendon was then introduced into subacromial space and fixed at the footprint of greater tuberosity arthroscopically.X-ray and MRI were conducted prior to and one day after the surgery and at the last follow-up.Pain visual analog scale (VAS) and active range of motion in all planes as well as Constant-Murley score and Fudan University shoulder score (FUSS) were documented before the surgery and at the last follow-up.Results All 13 patients accomplished the follow-up,with a duration from 17 to 22 months and a mean period of 19.6±0.9 months.No complications occurred.No re-tear was identified.The mean acromiohumeral distance increased from 5.4± 1.1 mm to 7.0±0.6 mm.The mean VAS decreased from 4.8± 1.3 to 0.5± 0.7.The mean 0° abduction external rotation,90° abduction external rotation,flexion,as well as abduction increased from 17.3°± 10.5°,12.4°±7.8°,89.2°±41.2°,87.3°±40.7° to 41.2°±12.5°,56.5°±16.6°,120.5°±25.1°,and 113.5°±25.4° respectively.Constant-Mur ley score and FUSS increased from 33.5±9.9 and 50.9±7.6 to 62.8±8.1,and 81.7±7.0,respectively.The improvement in all measurements was significant.Condclion For posterosuperior iMRCT,arthroscopic latissimus dorsi transfer with rotator cuff repair can decrease shoulder pain and improve shoulder function.