OBJECTIVE: To summarize the clinical and genetic characteristics of children with Silver-Russell syndrome (SRS) and improve the recognition of this disease. METHODS: A retrospective analysis was conducted on the clinical manifestations and genetic testing results of 29 children with SRS diagnosed at the Children's Hospital Affiliated to Zhengzhou University between March 2016 and June 2025. RESULTS: The 29 children had included 18 boys and 11 girls, with the age ranging from 2 months to 16 years. Their primary clinical manifestations included postnatal growth retardation (100%), small for gestational age (SGA) (100%), characteristic facial features (90%), limb asymmetry (83%), feeding difficulties (76%), ulnar deviation of the fifth finger (69%), body mass index (BMI) of < -2 SD (62%), and abnormal bone age (55%), including 15 cases with delayed bone age for an average of 1.5 years and 1 case with advanced bone age for 2.5 years. Additional manifestations included abnormal sexual development in 11 cases (38%), dental malocclusion in 11 cases (38%), allergic diseases in 10 cases (34%), cardiac diseases in 9 cases (31%), skeletal abnormalities in 7 cases (24%), renal hypoplasia in 5 cases (17%), and abnormal cranial MRI findings in 5 cases (17%). Twenty children were treated with recombinant human growth hormone (rhGH) at a dose of 0.1 ~ 0.15 U/(kg.d). Among them, 7 cases achieved annual height increase of ≥ 10 cm, 11 cases achieved annual height increase of ≥ 5 ~ 9 cm, and 2 cases achieved annual height increase < 5 cm. Twenty three children exhibited hypomethylation of imprinted genes in the chromosome region of 11p15, 4 presented maternal uniparental disomy of chromosome 7 [UPD(7)mat], and 2 had harbored nonsense variants of the HMGA2 gene. CONCLUSION SRS patients may present with diverse clinical manifestations including postnatal growth retardation, SGA, characteristic facial features, limb asymmetry, feeding difficulties, and ulnar deviation of the fifth finger. Most patients may exhibit abnormal methylation in the 11p15 region. rhGH therapy can improve the height of these patients.
Humans ; Silver-Russell Syndrome/diagnosis* ; Male ; Female ; Child ; Child, Preschool ; Infant ; Adolescent ; Retrospective Studies

Objective To investigate the prognostic value of remnant lipoprotein cholesterol(RLP-C)and platelet-lymphocyte ratio(PLR)for elderly patients with acute myocardial infarction(AMI)stratified by body mass index(BMI).Methods A total of 130 elderly AMI patients admitted to our hospital from January 2022 to January 2024 were recruited,and then based on their BMI,they were categorized into low(n=18),normal(n=60),and high BMI groups(n=52).Multivariate logistic regression analysis was used to identify the risk factors for poor prognosis in elderly AMI patients.Spearman correlation analysis was conducted to examine the relationship of RLP-C and PLR with prognostic outcomes.ROC curve analysis was performed to evaluate the predictive per-formance of the two indicators for prognosis in elderly AMI patients of different BMI.Results Significant differences in RLP-C and PLR levels were observed among the above three groups(P＜0.05,P＜0.01).In the overall population,as well as in the low,normal and high BMI groups,both RLP-C and PLR were positively correlated with adverse outcomes in elderly AMI patients(P＜0.01).PLR and RLP-C were independent risk factors for poor prognosis in elderly AMI pa-tients(P＜0.01),and they were independently associated with prognosis in each BMI group(P＜0.01).The combined the three indicators together significantly improved the sensitivity and speci-ficity in predicting adverse outcomes in elderly AMI patients when compared to single indicator alone(sensitivity:54.29％,75.94％,64.18％vs 82.61％;specificity:68.83％,70.22％,72.15％vs 80.49％;P＜0.01).Conclusion RLP-C and PLR are influencing factors for poor prognosis in eld-erly AMI patients,and can serve as predictive factors for prognosis,which are helpful for provi-ding valuable guidance for early treatment and prevention of adverse outcomes.

Postoperative infection of internal fixation of closed fractures the lower limbs in adults represents a devastating complication, characterized by diagnostic challenges, prolonged treatment duration and high disability rates. Current management of these infections faces multiple challenges, such as difficulties in early accurate diagnosis, and various controversies about the treatment plan, leading to poor overall diagnosis and treatment results. To address these issues, based on evidence-based medicine and principles with emphasis on scientific rigor, clinical applicability and innovation, the Trauma Branch of the Chinese Medical Association, Orthopedic Branch of the Chinese Medical Doctor Association, Orthopedics Branch of the Chinese Medical Association, and Trauma Orthopedics and Polytrauma Group of the Resuscitation and Emergency Committee of the Chinese Medical Doctor Association have collaboratively organized a panel of relevant experts to develop the Guideline for diagnosis and treatment of infection after internal fixation of closed lower limb fractures in adults ( version 2025). The guideline proposed 10 recommendations, aiming to provide a foundation for standardized diagnosis and treatment of postoperative infection in adults with closed lower limb fractures.

Objective To investigate the prognostic value of remnant lipoprotein cholesterol(RLP-C)and platelet-lymphocyte ratio(PLR)for elderly patients with acute myocardial infarction(AMI)stratified by body mass index(BMI).Methods A total of 130 elderly AMI patients admitted to our hospital from January 2022 to January 2024 were recruited,and then based on their BMI,they were categorized into low(n=18),normal(n=60),and high BMI groups(n=52).Multivariate logistic regression analysis was used to identify the risk factors for poor prognosis in elderly AMI patients.Spearman correlation analysis was conducted to examine the relationship of RLP-C and PLR with prognostic outcomes.ROC curve analysis was performed to evaluate the predictive per-formance of the two indicators for prognosis in elderly AMI patients of different BMI.Results Significant differences in RLP-C and PLR levels were observed among the above three groups(P＜0.05,P＜0.01).In the overall population,as well as in the low,normal and high BMI groups,both RLP-C and PLR were positively correlated with adverse outcomes in elderly AMI patients(P＜0.01).PLR and RLP-C were independent risk factors for poor prognosis in elderly AMI pa-tients(P＜0.01),and they were independently associated with prognosis in each BMI group(P＜0.01).The combined the three indicators together significantly improved the sensitivity and speci-ficity in predicting adverse outcomes in elderly AMI patients when compared to single indicator alone(sensitivity:54.29％,75.94％,64.18％vs 82.61％;specificity:68.83％,70.22％,72.15％vs 80.49％;P＜0.01).Conclusion RLP-C and PLR are influencing factors for poor prognosis in eld-erly AMI patients,and can serve as predictive factors for prognosis,which are helpful for provi-ding valuable guidance for early treatment and prevention of adverse outcomes.

Postoperative infection of internal fixation of closed fractures the lower limbs in adults represents a devastating complication, characterized by diagnostic challenges, prolonged treatment duration and high disability rates. Current management of these infections faces multiple challenges, such as difficulties in early accurate diagnosis, and various controversies about the treatment plan, leading to poor overall diagnosis and treatment results. To address these issues, based on evidence-based medicine and principles with emphasis on scientific rigor, clinical applicability and innovation, the Trauma Branch of the Chinese Medical Association, Orthopedic Branch of the Chinese Medical Doctor Association, Orthopedics Branch of the Chinese Medical Association, and Trauma Orthopedics and Polytrauma Group of the Resuscitation and Emergency Committee of the Chinese Medical Doctor Association have collaboratively organized a panel of relevant experts to develop the Guideline for diagnosis and treatment of infection after internal fixation of closed lower limb fractures in adults ( version 2025). The guideline proposed 10 recommendations, aiming to provide a foundation for standardized diagnosis and treatment of postoperative infection in adults with closed lower limb fractures.

Objective To construct a prediction model for coronal malalignment of lower limb in middle-aged and young people in China based on body surface big data in order to provide a faster and more accurate tool for predicting the malalignment in clinical practice.Methods A cross-sectional trial was adopted on 915 patients with knee meniscus tears admitted to the Sports Medical Center of our hospital from May 2022 to December 2023.The coronal force line of lower limb was measured,and according to the lower limb force line grading standards,the patients were divided into neutral force line group and malalignment lower limb group,and assigned randomly into training set and validation set in a ratio of 7∶3.Seven indicators,such as gender,age,and body surface big data (including BMI,lower limb length,distance between both knee joints,distance between both ankle joints,and subcutaneous fat thickness)were used to analyze the training set to predict the value of malalignment force line.Logistic regression model and nomogram model were constructed to visualize our prediction model. Then calibration curves,receiver operating characteristic (ROC)curve,and decision curve analysis (DCA)were applied to evaluate the diagnostic efficacy of the constructed model.Results In the training set of 640 cases,there were 299 males and 341 females,with a median age of 41 .5 years old,and for the validation set,there are 275 patients,including 128 males and 147 females,with a median age of 41 .0 years old.Significant differences were observed in above mentioned 7 indicators between the 2 groups in the training set (P<0.01 ).Based on the results of multiple logistic regression analysis,a prediction model for malalignment of lower limb was constructed,including BMI (24.31±3.58 kg/m2,OR=1 .12,95％CI:1 .06～1 .19,P<0.001 ),lower limb length[82.00 (78.00～87.00)cm,OR=0.95,95％CI:0.92～0.98,P=0.002],distance between both knee joints[30.00 (16.00～45.25)cm,OR=1 .06,95％CI:1 .05～1 .07,P<0.001],distance between both ankle joint[23.00 (8.00～30.00)mm,OR=0.98,95％CI:0.96～1 .00,P=0.078]and gender[man 299 (46.72％),OR=0.70,95％CI:0.46～1 .06,P=0.089].The area under the subject curve (AUC)value of our constructed model for predicting malalignment of lower limb was 0.808 and 0.770,respectively,in the training and validation sets.Conclusion Based on body surface big data,we primarily construct a prediction model for malalignment of lower limb for middle-aged and young people in China,which shows a good diagnostic performance on malalignment of lower limb.

BACKGROUND:For early knee osteoarthritis in which total knee arthroplasty fails to achieve satisfactory results,high tibial osteotomy that has been found to promote regeneration of damaged cartilage and alleviate symptoms in patients is considered a classic knee-preserving procedure. OBJECTIVE:To review and discuss the effectiveness,mechanism,and application prospects of high tibial osteotomy in stimulating cartilage regeneration in knee osteoarthritis and to provide a theoretical basis for the use of high tibial osteotomy in the treatment of knee osteoarthritis. METHODS:A computerized search was conducted in PubMed,Web of Science,CNKI and WanFang databases for relevant literature published from 2013 to 2023.The search terms used were"knee osteoarthritis,high tibial osteotomy,limb alignment,chondrocytes,biomechanics,intra-articular"in both English and Chinese.Finally,75 articles were included for review. RESULTS AND CONCLUSION:High tibial osteotomy correcting the lower limb alignment has been found to be effective in alleviating symptoms and potentially delaying or preventing the need for total knee arthroplasty.This is an important aspect of orthopedic step-down treatment in knee osteoarthritis.Maintaining a normal mechanical microenvironment is crucial for the proper functioning and maintenance of chondrocyte phenotype.Abnormal mechanical signals can be converted into intracellular chemical signals through mechanosensors like primary cilia,integrins,cytoskeleton and nucleoskeleton,resulting in disruptions to the balance of matrix metabolism and regulation of inflammatory responses.Chondrocytes after abnormal stress action still have the potential to revert to a normal phenotype under appropriate stress;correction of the mechanical microenvironment by high tibial osteotomy leads to spontaneous cartilage repair and remission of synovial inflammation.The combination of high tibial osteotomy and cartilage regeneration strategy holds promising prospects for patients with early knee osteoarthritis who are not candidates for total knee arthroplasty.

Objective:To investigate the risk factors for severe hyperbilirubinemia complicated by acute bilirubin encephalopathy (ABE), and the value of total serum bilirubin (TSB) and bilirubin (B)/albumin (A) ratio in predicting ABE.Methods:Clinical data of children with severe hyperbilirubinemia admitted to the Affiliated Hospital of Inner Mongolia Medical University, Ordos Central Hospital, People's Hospital of Inner Mongolia Autonomous Region, the Fourth Hospital of Baotou, Tongliao Hospital, Maternal and Child Health Hospital of Hohhot, the Affiliated Hospital of Chifeng University, Manzhouli People's Hospital, and Chifeng Hospital from January 1, 2020, to December 31, 2021, were retrospectively collected. The subjects were divided into ABE and non-ABE groups based on the occurrence of ABE. Multivariate logistic regression analysis was used to identify high-risk factors for ABE. Statistical analysis was performed using t-test, Wilcoxon signed-rank test, or Chi-square tests. Indicators with statistically significant differences were included in the multivariate logistic regression model, and stepwise regression was used to analyze the influencing factors of ABE. Results:(1) A total of 543 children were included in this study, accounting for 3.7% (543/14 831) of the total admissions during the same period. Among the 543 children, 81 (14.9%) had ABE, and 462 (85.1%) did not. The age at admission was (7.2±2.1) d, and the length of hospital stay was (5.2±2.2) d. The breastfeeding initiation time was 2 d (1-4 d) after birth. The peak TSB of the 543 cases was (385.98±51.22) μmol/L, and the age at peak TSB was (4.4±2.1) d. Fourteen cases (2.5%) gradually reached the peak TSB after admission [(392.01±61.24) μmol/L], while 529 cases (97.5%) had already reached the peak TSB at admission [(386.42±50.22) μmol/L]. Among the 543 cases, 356 had a clear etiology (65.6%, with 278 cases having a single cause and 78 cases having more than two causes), and 187 cases (34.4%) had an unknown etiology. (2) Compared with the non-ABE group, the breastfeeding initiation in the ABE group was later [6 h (2-6 h) vs. 2 h (1-3 h), Z=－6.87] and the length of hospital stay was longer [(6.5±1.9) d vs. (5.0±2.1) d, t=0.55]. The proportions of breastfeeding, delayed meconium passage, isoimmune hemolysis, and maternal gestational diabetes, as well as peak TSB and B/A ratio at peak TSB, were higher in the ABE group than in the non-ABE group [64.2% (52/81) vs. 36.8% (170/462), χ2=21.96; 16.0% (13/81) vs. 2.4% (11/462), χ2=27.32; 27.2% (22/81) vs. 10.6% (40/462), χ2=16.61; 24.7% (20/81) vs. 13.6% (63/462), χ2=6.50; (442±68) vs. (375±39) μmol/L, t=－8.55; (11.9±1.6) vs. (9.8±1.2), t=－11.61; all P<0.05]. The admission weight, proportion of transfer from the hospital's obstetrics department, unknown etiology, and breast milk jaundice were lower in the ABE group than in the non-ABE group [(3 098±482) vs. (3 278±493) g, t=3.04; 12.3% (10/81) vs. 42.4% (196/462), χ2=30.48; 3.7% (3/81) vs. 39.8% (184/462), χ2=39.83; 0.0% (0/81) vs. 5.8% (27/462), χ2=3.81; all P<0.05]. (3) Isoimmune hemolysis, peak TSB, and B/A ratio at peak TSB were independent risk factors for ABE [ OR(95% CI) were 2.924 (1.209-7.073), 1.006 (0.997-1.014), and 2.647 (1.841-3.805), respectively]. When the peak TSB was 380.05 μmol/L and the B/A ratio at peak TSB was 10.45, the sensitivity for predicting ABE was 0.963, the specificity was 0.789, and the area under the receiver operating characteristic curve was 0.752. Conclusions:Isoimmune hemolysis, peak TSB, and B/A ratio at peak TSB are independent risk factors for ABE. The B/A ratio at peak TSB and peak TSB can effectively predict ABE.

Objective:To investigate the risk factors for severe hyperbilirubinemia complicated by acute bilirubin encephalopathy (ABE), and the value of total serum bilirubin (TSB) and bilirubin (B)/albumin (A) ratio in predicting ABE.Methods:Clinical data of children with severe hyperbilirubinemia admitted to the Affiliated Hospital of Inner Mongolia Medical University, Ordos Central Hospital, People's Hospital of Inner Mongolia Autonomous Region, the Fourth Hospital of Baotou, Tongliao Hospital, Maternal and Child Health Hospital of Hohhot, the Affiliated Hospital of Chifeng University, Manzhouli People's Hospital, and Chifeng Hospital from January 1, 2020, to December 31, 2021, were retrospectively collected. The subjects were divided into ABE and non-ABE groups based on the occurrence of ABE. Multivariate logistic regression analysis was used to identify high-risk factors for ABE. Statistical analysis was performed using t-test, Wilcoxon signed-rank test, or Chi-square tests. Indicators with statistically significant differences were included in the multivariate logistic regression model, and stepwise regression was used to analyze the influencing factors of ABE. Results:(1) A total of 543 children were included in this study, accounting for 3.7% (543/14 831) of the total admissions during the same period. Among the 543 children, 81 (14.9%) had ABE, and 462 (85.1%) did not. The age at admission was (7.2±2.1) d, and the length of hospital stay was (5.2±2.2) d. The breastfeeding initiation time was 2 d (1-4 d) after birth. The peak TSB of the 543 cases was (385.98±51.22) μmol/L, and the age at peak TSB was (4.4±2.1) d. Fourteen cases (2.5%) gradually reached the peak TSB after admission [(392.01±61.24) μmol/L], while 529 cases (97.5%) had already reached the peak TSB at admission [(386.42±50.22) μmol/L]. Among the 543 cases, 356 had a clear etiology (65.6%, with 278 cases having a single cause and 78 cases having more than two causes), and 187 cases (34.4%) had an unknown etiology. (2) Compared with the non-ABE group, the breastfeeding initiation in the ABE group was later [6 h (2-6 h) vs. 2 h (1-3 h), Z=－6.87] and the length of hospital stay was longer [(6.5±1.9) d vs. (5.0±2.1) d, t=0.55]. The proportions of breastfeeding, delayed meconium passage, isoimmune hemolysis, and maternal gestational diabetes, as well as peak TSB and B/A ratio at peak TSB, were higher in the ABE group than in the non-ABE group [64.2% (52/81) vs. 36.8% (170/462), χ2=21.96; 16.0% (13/81) vs. 2.4% (11/462), χ2=27.32; 27.2% (22/81) vs. 10.6% (40/462), χ2=16.61; 24.7% (20/81) vs. 13.6% (63/462), χ2=6.50; (442±68) vs. (375±39) μmol/L, t=－8.55; (11.9±1.6) vs. (9.8±1.2), t=－11.61; all P<0.05]. The admission weight, proportion of transfer from the hospital's obstetrics department, unknown etiology, and breast milk jaundice were lower in the ABE group than in the non-ABE group [(3 098±482) vs. (3 278±493) g, t=3.04; 12.3% (10/81) vs. 42.4% (196/462), χ2=30.48; 3.7% (3/81) vs. 39.8% (184/462), χ2=39.83; 0.0% (0/81) vs. 5.8% (27/462), χ2=3.81; all P<0.05]. (3) Isoimmune hemolysis, peak TSB, and B/A ratio at peak TSB were independent risk factors for ABE [ OR(95% CI) were 2.924 (1.209-7.073), 1.006 (0.997-1.014), and 2.647 (1.841-3.805), respectively]. When the peak TSB was 380.05 μmol/L and the B/A ratio at peak TSB was 10.45, the sensitivity for predicting ABE was 0.963, the specificity was 0.789, and the area under the receiver operating characteristic curve was 0.752. Conclusions:Isoimmune hemolysis, peak TSB, and B/A ratio at peak TSB are independent risk factors for ABE. The B/A ratio at peak TSB and peak TSB can effectively predict ABE.

Objective:To explore the feasibility for reconstruction of soft tissue defects in limbs and trunk with perforator pedicled kite flap, and to summarise its clinical efficacy.Methods:A retrospective study was conducted on 14 patients with soft tissue defects and admitted to the Department of Hand Microsurgery of Xiangya Hospital, Central South University from January 2016 to September 2023. Among the 14 patients (6 males and 8 females), 7 had defects in calf, 2 in sacrococcygeal area, 2 in the back and 3 in forearm. All of the defects were reconstructed with the perforator pedicled kite flaps, of which 6 flaps had the pedicles of single perforator, 3 of 2 perforators, 4 of 3 perforators and 1 of 5 perforators. Single V-Y advancement flaps were used for defect reconstruction in 8 patients, and double V-Y advancement flaps were used in 6 patients. The size of the defects ranged from 2.2 cm×1.8 cm to 8.0 cm×16.0 cm, and the size of the flaps ranged from 3.0 cm×5.5 cm to 9.0 cm×23.0 cm. All donor sites were closed directly. Postoperative follow-up was conducted at outpatient clinic, by telephone reviews and WeChat after surgery, to observe the flap survival and postoperative complications.Results:All flaps survived completely. All the flaps and donor sites healed primarily. The postoperative follow-up lasted for 3 to 36 (mean, 14.5) months. Thirteen flaps presented with soft texture, good appearance, with similar texture to the surrounding skin and without obvious swelling. The patients were satisfied with the aesthetic outcomes. One patient had a local ulcer with exudation at the recipient site and the ulcer healed after removal of the steel plate and thoroughly debridement.Conclusion:With a perforator pedicled kite flap, vascular anastomosis or sacrifice of a second donor site can be avoided. A perforator pedicled kite flap can be applied to many recipient sites, with a simple surgical procedure and a good postoperative appearance. It is an ideal flap for reconstruction of small to medium-sized soft tissue defects in trunk and limbs. More studies are required to evaluate the feasibility of the flap to be applied in local hospitals.