Objective:To investigate the clinical and radiologic characteristics of children with congenital pseudarthrosis of the tibia (CPT) in a single center.Methods:This is a retrospective case series study. According to inclusion and exclusion criteria, clinical data of 497 children(507 limbs) with CPT who were treated at Department of Orthopedics, the Children′s Hospital Affiliated to Xiangya School of Medicine, Central South University from January 2011 to December 2020 were collected. Baseline data included gender, age at initial visit, age at onset of symptoms, accompanying symptoms, domicile, whether first treated at our hospital, and treatment-related information such as surgical or conservative treatment, surgical complications, etc., were extracted and analyzed using the health information system. Imaging data of the children, including Crawford classification, bilateral leg lengths, presence of fibular pseudarthrosis, and location of pseudarthrosis along the tibia segment, were analyzed using the Picture Archiving and Communication System. Data were compared using independent sample t test or χ2 tests. Results:Among 497 children with CPT, there were 305 males (61.4%) and 192 females (38.6%). The age at initial visit was (3.6±3.2) years (range: 0.1 to 16.2 years). Neurofibromatosis type 1 (NF1) symptoms were positive in 340 children (68.4%), and negative in 157 children (31.6%). Among NF1-positive children, those with symptoms onset before 1 year of age were significantly more than NF1-negative children (74.1%(252/340) vs. 66.2%(104/157); χ2=9.24, P=0.001), and the proportion of fractures (92.9%,316/340) was significantly higher than that in the NF1-negative group (84.7%,133/157) ( χ2=8.33, P=0.004). According to imaging data, Crawford type Ⅳ was the most common type, with 321 limbs (63.3%), followed by type Ⅱ in 100 limbs (19.7%), type Ⅲ in 54 limbs (10.7%) and type Ⅰ in 32 limbs (6.3%). Pseudarthrosis occurred in the proximal third of the tibia in 14 limbs (2.8%), in the middle third in 185 limbs (36.5%), and in the distal third in 308 limbs (60.8%). Seventy-four children (14.9 %) had associated fibular pseudarthrosis. The lateral proximal tibial angle was 86.91°±5.21°(range: 72.17° to 102.08°), and the lateral distal tibial angle was 87.27°±10.73°(range: 51.07° to 128.17°). A total of 421 children (84.7%) underwent surgical treatment with (3.1±2.4) surgeries performed per child (range:0 to 12 surgeries); 76 children (15.3%) received conservative treatment. Postoperative complications mainly included ankle valgus (77 cases), leg length discrepancy (71 cases),refracture (48 cases), osteomyelitis (11 cases), and hardware failure (10 cases). NF1-positive children underwent more surgeries than NF1-negative children ((5.1±2.2)times vs.(2.1±1.8)times; t=14.93, P<0.01). Conclusions:Crawford type Ⅳ is the most common type of CPT in children in this study. CPT predominantly occurs in the middle or distal third of the tibia. The majority of children with CPT experienced symptoms and were seen at outpatient clinics before the age of 3 years. The main surgical complications currently associated with CPT treatment are ankle valgus and leg length discrepancy. Compared with CPT without NF1, children with NF1-positive CPT tend to have earlier symptom onset and may require more frequent treatments.

Objective:To investigate the clinical and radiologic characteristics of children with congenital pseudarthrosis of the tibia (CPT) in a single center.Methods:This is a retrospective case series study. According to inclusion and exclusion criteria, clinical data of 497 children(507 limbs) with CPT who were treated at Department of Orthopedics, the Children′s Hospital Affiliated to Xiangya School of Medicine, Central South University from January 2011 to December 2020 were collected. Baseline data included gender, age at initial visit, age at onset of symptoms, accompanying symptoms, domicile, whether first treated at our hospital, and treatment-related information such as surgical or conservative treatment, surgical complications, etc., were extracted and analyzed using the health information system. Imaging data of the children, including Crawford classification, bilateral leg lengths, presence of fibular pseudarthrosis, and location of pseudarthrosis along the tibia segment, were analyzed using the Picture Archiving and Communication System. Data were compared using independent sample t test or χ2 tests. Results:Among 497 children with CPT, there were 305 males (61.4%) and 192 females (38.6%). The age at initial visit was (3.6±3.2) years (range: 0.1 to 16.2 years). Neurofibromatosis type 1 (NF1) symptoms were positive in 340 children (68.4%), and negative in 157 children (31.6%). Among NF1-positive children, those with symptoms onset before 1 year of age were significantly more than NF1-negative children (74.1%(252/340) vs. 66.2%(104/157); χ2=9.24, P=0.001), and the proportion of fractures (92.9%,316/340) was significantly higher than that in the NF1-negative group (84.7%,133/157) ( χ2=8.33, P=0.004). According to imaging data, Crawford type Ⅳ was the most common type, with 321 limbs (63.3%), followed by type Ⅱ in 100 limbs (19.7%), type Ⅲ in 54 limbs (10.7%) and type Ⅰ in 32 limbs (6.3%). Pseudarthrosis occurred in the proximal third of the tibia in 14 limbs (2.8%), in the middle third in 185 limbs (36.5%), and in the distal third in 308 limbs (60.8%). Seventy-four children (14.9 %) had associated fibular pseudarthrosis. The lateral proximal tibial angle was 86.91°±5.21°(range: 72.17° to 102.08°), and the lateral distal tibial angle was 87.27°±10.73°(range: 51.07° to 128.17°). A total of 421 children (84.7%) underwent surgical treatment with (3.1±2.4) surgeries performed per child (range:0 to 12 surgeries); 76 children (15.3%) received conservative treatment. Postoperative complications mainly included ankle valgus (77 cases), leg length discrepancy (71 cases),refracture (48 cases), osteomyelitis (11 cases), and hardware failure (10 cases). NF1-positive children underwent more surgeries than NF1-negative children ((5.1±2.2)times vs.(2.1±1.8)times; t=14.93, P<0.01). Conclusions:Crawford type Ⅳ is the most common type of CPT in children in this study. CPT predominantly occurs in the middle or distal third of the tibia. The majority of children with CPT experienced symptoms and were seen at outpatient clinics before the age of 3 years. The main surgical complications currently associated with CPT treatment are ankle valgus and leg length discrepancy. Compared with CPT without NF1, children with NF1-positive CPT tend to have earlier symptom onset and may require more frequent treatments.

Objective:To investigate the clinicopathological features of Crooke cell tumor of adrenocorticotropic hormone differentiation specific transcription factor (TPIT, also known as transcription factor 19, TBX19) lineage neuroendocrine tumors.Methods:Six cases of Crooke cell tumor diagnosed at the First Affiliated Hospital of University of Science and Technology of China, Hefei, China from October 2019 to October 2023 were collected. The clinical and pathological features of these cases were analyzed.Results:Among the six cases, one was male and five were female, with ages ranging from 26 to 75 years, and an average age of 44 years. All tumors occurred within the sella turcica. Clinical presentations included visual impairment in two cases, menstrual disorders in one case, Cushing′s syndrome in one case, headache in one case, and one asymptomatic case discovered during a physical examination. Preoperative serum analyses revealed elevated levels of cortisol and adrenocorticotropic hormones in two cases, elevated cortisol in two cases, elevated adrenocorticotropic hormone in one case, and one case with a mild increase in prolactin due to the pituitary stalk effect. Magnetic resonance imaging revealed uneven enhancement of masses with maximum diameters ranging from 1.7 to 3.2 cm, all identified as macroadenomas. Microscopically, tumor cells exhibited irregular polygonal shapes, solid sheets, or pseudo-papillary arrangements around blood vessels. The cell nuclei were eccentric or centrally located, varying in size, with abundant cytoplasm. Some tumor cells showed perinuclear halo. Immunohistochemistry demonstrated diffuse strong positivity for TPIT in five cases, focal weak positivity for TPIT in one case, diffuse strong positivity for adrenocorticotropic hormone in all cases, and faint staining around the nuclei in a few cells. CK8/18 showed a strong positive ring pattern in more than 50% of tumor cells, focal weak positive expression of p53, and the Ki-67 positive index ranged 1%-5%. Periodic acid-Schiff staining revealed positive cytoplasm and negative perinuclear areas.Conclusions:Crooke cell tumor is a rare type of pituitary neuroendocrine tumors. Its pathological characteristics include a distinctive perinuclear clear zone and immunohistochemical markers, such as CK8/18 exhibiting a ring or halo pattern. This entity represents a high-risk subtype among pituitary neuroendocrine tumors, displaying a high risk of invasion and a propensity for recurrence. Accurate diagnosis is crucial for the postoperative follow-up and multimodal treatment planning.

Objective:To explore the risk factors associated with tibia fractures in children with congenital anterolateral bowing of the tibia (ALBT).Methods:A retrospective analysis was conducted on data from 87 children diagnosed with ALBT at the Children's Hospital of Hunan Province from January 2012 to January 2020. The collected data included age at initial diagnosis, affected limb side, whether there was a concomitant type I neurofibromatosis, whether there was a concomitant fibular pseudoarthrosis, whether there was concomitant ankle joint deformity, whether there was bone cystic change in the region of tibial bowing deformity, location of the apex of the bowing deformity, diameter of the tibial bowing deformity on the affected side, diameter on the healthy side in the same plane as the tibial bowing deformity, angle of lateral bending deformity of the tibia, angle of anterior bending deformity of the tibia, occurrence of tibia fracture, history of trauma before fracture, location of fracture, and age at the time of fracture. The follow-up endpoint was January 2023. Receiver operating characteristic (ROC) curves were used to determine the optimal cutoff values for the angles of lateral and anterior bending deformity of the tibia and the ratio of cross-sectional areas. The correlation between the above factors and tibial fractures in children was analyzed by single factor survival analysis, and the indicators with statistical significance were included in multivariate Cox proportional risk regression analysis to determine the risk factors for tibial fractures in children with ALBT.Results:Of the 87 children diagnosed with ALBT, the median age at initial diagnosis was 14.0 months (range, 1-93 months), with 42 males and 45 females, 44 left-sided and 43 right-sided cases. The median follow-up time for non-fracture cases was 42.0 months (range, 1-124 months). At the last follow-up, 43 children had experienced fractures, while 44 had not. The average time to fracture-free survival was 70.3 months, the median fracture-free survival time was 55.0 months, and the median survival time without fractures was 42.0 months. The ROC curve results indicated a cutoff value of 25.55° for the lateral bending angle of the tibia and 32.63° for the anterior bending angle of the tibia, with no statistically significant significance for the cross-sectional area ratio [AUC=0.54, 95% CI (0.42, 0.66), P=0.530]. Single-factor analysis of fracture-free survival suggested that there were statistically significant differences in the intergroup fracture-free survival rates of four factors: lateral bending angle of the tibia (χ 2=7.06, P=0.008), anterior bending angle of the tibia (χ 2=8.96, P=0.003), history of trauma (χ 2=18.26, P<0.001), and tibial bone cystic change (χ 2=4.30, P=0.038). The results of the multivariate Cox proportional hazards regression analysis showed that a lateral bending angle of the tibia&ge;25.55° ( HR=2.73, P=0.007), tibial bone cystic change ( HR=2.35, P=0.018), and history of trauma ( HR=2.65, P=0.004) were all positively correlated with fractures. Conclusion:The main risk factors for tibia fractures in children with ALBT include trauma, tibial bowing deformity with concomitant bone cystic change, and lateral bending angle of the tibia&ge;25.55°.

OBJECTIVE: To explore the clinical phenotype and genetic basis for a fetus suspected for Coffin-Siris syndrome. METHODS: Chromosomal microarray analysis (CMA) and whole exome sequencing (WES) were carried out for the fetus. Candidate variant was verified by Sanger sequencing. RESULTS: Prenatal ultrasound at 23rd gestational week has revealed fetal ventriculomegaly. No abnormality was found by CMA, while WES revealed that the fetus has harbored a de novo heterozygous c.2851G>A (p.G951R) variant of the SMARCA4 gene, which was predicted to be pathogenic. CONCLUSION Genetic testing should be considered for fetuses featuring progressive widening of lateral cerebral ventricles.
Female ; Humans ; Pregnancy ; DNA Helicases/genetics* ; Fetus ; Genetic Testing ; Nuclear Proteins/genetics* ; Phenotype ; Transcription Factors/genetics* ; Exome Sequencing

Consecutively hospitalized patients with confirmed coronavirus disease 2019 (COVID-19) in Wuhan, China were retrospectively enrolled from January 2020 to March 2020 to investigate the association between the use of renin-angiotensin system inhibitor (RAS-I) and the outcome of this disease. Associations between the use of RAS-I (angiotensin-converting enzyme inhibitor (ACEI) or angiotensin receptor blocker (ARB)), ACEI, and ARB and in-hospital mortality were analyzed using multivariate Cox proportional hazards regression models in overall and subgroup of hypertension status. A total of 2771 patients with COVID-19 were included, with moderate and severe cases accounting for 45.0% and 36.5%, respectively. A total of 195 (7.0%) patients died. RAS-I (hazard ratio (HR)= 0.499, 95% confidence interval (CI) 0.325-0.767) and ARB (HR = 0.410, 95% CI 0.240-0.700) use was associated with a reduced risk of all-cause mortality among patients with COVID-19. For patients with hypertension, RAS-I and ARB applications were also associated with a reduced risk of mortality with HR of 0.352 (95% CI 0.162-0.764) and 0.279 (95% CI 0.115-0.677), respectively. RAS-I exhibited protective effects on the survival outcome of COVID-19. ARB use was associated with a reduced risk of all-cause mortality among patients with COVID-19.
Angiotensin Receptor Antagonists/therapeutic use* ; Angiotensin-Converting Enzyme Inhibitors/therapeutic use* ; COVID-19 ; Humans ; Hypertension/drug therapy* ; Renin-Angiotensin System ; Retrospective Studies

Objective:To analyze the clinical efficacy of different treatment modalities and prognostic factors of patients with Masaoka-Koga stage Ⅲ thymoma.Methods:Clinical data of patients diagnosed with Masaoka-Koga stage Ⅲ thymoma admitted to Affiliated Cancer Hospital of Zhengzhou University from January 2000 to December 2018 were analyzed retrospectively. A total of 133 patients had complete treatment and follow-up data. Kaplan-Meier method was used to calculate the cumulative survival rate, log-rank method was used to compare the survival between two groups, and Cox regression model was used for multivariate analysis.Results:The median follow-up time was 50 months (3-221 months). The median overall survival (OS) was 51 (3-221) months, and the median disease-free survival (DFS) was 45 (2-221) months. The survival rate in the radical surgery group was better than that in the palliative surgery group. The 5- and 10-year OS rates in radical surgery group were 88.2% and 74.4% respectively, while in palliative surgery group were 51.8% and 32.4% respectively ( P<0.001). The 5- and 10-year DFS rates in radical surgery group were 72.2% and 45.5%, respectively, while in palliative surgery group were 32.3% and 16.1% respectively ( P=0.001). The OS in the surgery combined with radiotherapy group was better than that in the surgery alone group. The 5- and 10-year OS rates in the radical surgery group were 82.8% and 64.2% respectively, while in the palliative surgery group were 55.8% and 50.2% ( P=0.033). There was no significant difference in DFS between two groups ( P=0.176). Multivariate analysis showed that age < 50 years old ( HR=0.264, P=0.001), radical resection ( HR=0.134, P<0.001), surgery combined with radiotherapy ( HR=2.778, P=0.009) were independently associated with better OS. Age < 50 years old ( HR=0.550, P=0.046), radical resection ( HR=0.555, P=0.042), and invasion of single organ ( HR=0.111, P=0.003) were independently associated with better DFS. Conclusions:OS and DFS in patients undergoing radical surgery are significantly better than those in their counterparts treated with palliative surgery, which is the most important factor affecting prognosis. Surgery combined with radiotherapy yields better OS. It is necessary to design a rigorous and reasonable multicenter prospective study to evaluate the efficacy of various treatment modalities and prognostic factors.

Objective:To investigate clinical efficacy of conformal sphincter preservation operation (CSPO) versus intersphincteric resection (ISR) in the treatment of low rectal cancer.Methods:The retrospective cohort study was conducted. The clinicopathological data of 183 patients with low rectal cancer who were admitted to two medical centers (117 in the Changhai Hospital of Naval Medical University and 66 in the Huashan Hospital of Fudan University) from August 2011 to April 2020 were collected. There were 110 males and 73 females, aged (57±11)years. Of 183 patients, 117 cases undergoing CSPO were allocated into CSPO group, and 66 cases undergoing ISR were allocated into ISR group, respectively. Observation indicators: (1) surgical situations of patients with low rectal cancer in the two groups; (2) postoperative complications of patients with low rectal cancer in the two groups; (3) follow-up; (4) influencing factors for prognosis of patients with low rectal cancer; (5) influencing factors for satisfaction with the anal function of patients with low rectal cancer. Follow-up was conducted using outpatient examination, questionnaire and telephone interview to determine local recurrence, distal metastasis, survival, stomal closure, satisfaction with the anal function of patients. Measurement data with normal distribution were represented as Mean±SD, and comparison between groups was analyzed using the t test. Measurement data with skewed distribution were represented as M (range). Count data were described as absolute numbers or percentages, and comparison between groups was analyzed using the chi-square test. Comparison of ordinal data was analyzed using the rank sum test.The Kaplan-Meier method was used to draw survival curves, and life table method was used to calculate survival rates. Log-rank test was used for survival analysis. Univariate analysis was performed using the linear regression. Variables with P<0.10 in the univariate linear regression analysis were included for multivariate analysis. Multivariate analysis was performed using the COX stepwise regression model and linear regression analysis. Results:(1) Surgical situations of patients with low rectal cancer in the two groups: cases with laparoscopic surgery, operation time, volume of intraoperative blood loss, distance from tumor to distal margin, cases with postoperative chemotherapy, duration of postoperative hospital stay were 44, (165±54)minutes, (142±101)mL, (0.6±0.4)cm, 76, (6.6±2.5)days for the CSPO group, respectively, versus 55, (268±101)minutes, (91±85)mL, (1.9±0.6)cm, 9, (7.9±4.7)days for the ISR group, showing significant differences between the two groups ( χ2=35.531, t=8.995, -3.437, -3.088, χ2=44.681, t=2.267, P<0.05). (2) Postoperative complications of patients with low rectal cancer in the two groups: 19 patients in the CSPO group had complications. There were 6 cases with grade Ⅰ complications, 12 cases with grade Ⅱ complications, 1 case with grade Ⅲb complication. Fourteen patients in the ISR group had complications. There were 4 cases with grade Ⅰ complications, 7 cases with grade Ⅱ complications, 1 case with grade Ⅲa complication, 2 cases with grade Ⅲb complications. There was no significant difference in the postoperative complications between the two groups ( χ2=0.706, P>0.05). Patients with complications in the two groups were improved after symptomatic and supportive treatment. There was no perioperative death in the postoperative 30 days of the two groups. (3) Follow-up: 183 patients received follow-up. Patients of the CSPO group and ISR group were followed up for (41±27)months and (37±19)months, respectively, showing no significant difference between the two groups ( t=-1.104, P>0.05). There were 2 cases with local recurrence and 9 cases with distal metastasis of the CSPO group, respectively, versus 3 cases and 4 cases of the ISR group, showing no significant difference between the two groups ( χ2=1.277, 0.170, P>0.05). The 3-year disease-free survival rate and 3-year total survival rate were 84.0% and 99.0% for the CSPO group, versus 88.6% and 92.8% for the ISR group, showing no significant difference between the two groups ( χ2=0.218, 0.002, P>0.05). The stomal closure rate was 92.16%(94/102) and 96.97%(64/66) for 102 patients of CSPO group and 66 patients of ISR group up to postoperative 12 months,respectively, showing no significant difference between the two groups ( χ2=1.658, P>0.05). Of the 8 cases without stomal closure in the CSPO group, 2 cases refused due to advanced age, 4 cases subjectively refused, and 2 cases were irreducible due to scar caused by radiotherapy. Two cases in the ISR group had no stomal closure including 1 case of postoperative liver metastasis and 1 case of subjective refusal. There were 92 and 61 patients followed up to 12 months after stomal closure, of which 75 cases and 38 cases completed questionnaires of satisfaction with the anal function. The satisfaction score with the anal function was 6.8±2.8 and 5.4±3.0 for CSPO group and ISR group, respectively, showing a significant difference between the two groups ( t=-2.542, P<0.05). Fifty-four cases in the CSPO group and 21 cases in the ISR group had satisfaction score with the anal function >5, showing no significant difference between the two groups ( χ2=3.165, P>0.05). (4) Influencing factors for prognosis of patients with low rectal cancer: results of COX stepwise regression analysis showed that gender and pT staging were independent influencing factors for disease-free survival rate of patients with low rectal cancer ( hazard ratio=2.883, 1.963, 95% confidence interval as 1.090 to 7.622, 1.129 to 3.413, P<0.05). Gender and pT staging were independent influencing factors for total survival rate of patients with low rectal cancer ( hazard ratio=10.963,3.187, 95% confidence interval as 1.292 to 93.063, 1.240 to 8.188, P<0.05). (5) Influencing factors for satisfaction with the anal function of patients with low rectal cancer: results of univariate analysis showed that surgical method and tumor differentiation degree were related factors for satisfaction with the anal function of patients with low rectal cancer (partial regression coefficient=1.464, -1.580, 95% confidence interval as 0.323 to 2.605, -2.950 to -0.209, P<0.05). Results of multivariate analysis showed that surgical method, tumor differentiation degree and preoperative radiotherapy were independent influencing factors for satisfaction with the anal function of patients with low rectal cancer (partial regression coefficient=1.637, -1.456, -1.668, 95% confidence interval as 0.485 to 2.788, -2.796 to -0.116, -2.888 to -0.447, P<0.05). Conclusion:Compared with ISR, CSPO can safely preserve the anus in the treatment of low rectal cancer, without increasing the incidence of postoperative complications, which can also guarantee the oncological safety and improve the postoperative anal function.

Objective:To identify and analyze different proteins expression in the periosteum of congenital pseudarthrosis of the tibia (CPT) using tandem mass tags (TMT) proteomics.Methods:The samples were divided into three groups, namely CPT with neurofibromatosis type 1 (NF1) group (NF1-CPT group), CPT without NF1 group (nonNF1-CPT group) and control group (patients with open tibial fracture). A fold change &ge;1.5 or ≤0.66 and P-value <0.05 was regarded as the threshold to screen differentially expressed proteins (DEPs). Subsequently, bioinformatics resources such as online tools DAVID and STRING were used to conduct GO annotation, KEGG pathways enrichment and protein-protein interaction (PPI) network with DEPs. Results:A total of 347 proteins differentially expressed in NF1-CPT group, 212 of which were up-regulated and 135 down-regulated. We identified 467 DEPs in nonNF1-CPT group, including 281 up-regulated and 186 down-regulated. Among of them, NF1-CPT group and nonNF1-CPT group shared 231 DEPs, except for HLA-DRB1 which increased in NF1-CPT group but decreased in nonNF1-CPT group. The remaining 230 DEPs showed the same expression trend in the two positive groups, including 117 up-regulated and 113 down-regulated. In particular, a total of 116 proteins were altered only in NF1-CPT group, including 94 up-regulated and 22 down-regulated. However, there were 236 proteins altered only in nonNF1-CPT group, including 164 up-regulated and 72 down-regulated. The results indicated that the pathogenesis of NF1-CPT was similar as nonNF1-CPT largely with a few differences. Finally, compared with nonNF1-CPT, there were 47 proteins changed 1.5-fold and P-value <0.05 in NF1-CPT group. Conclusion:The proteins expression in the periosteum of CPT is different from that of normal tibia. The expression of periosteal protein is also different between NF1-CPT and nonNF1-CPT. The present study will deepen our understanding of the pathogenesis of CPT in the protein level.

Venous thromboembolism (VTE) is one of common complications in hospitalized patients. Hospitalized patient tend to have high risk factors to develop VTE. As an important part of VTE prevention and treatment, it is of great significance for nurses to accurately identify risk factors, to conduct risk assessment of VTE in a timely manner, and to take appropriate preventive measures.