The effect of ALPL on liver regeneration after partial hepatectomy in mice / 西安交通大学学报(医学版)

【Objective】 To observe the role of liver/bone/kidney alkaline phosphatase gene (ALPL) in liver regeneration following 70% hepatectomy (partial hepatectomy, PH). 【Methods】 A knock-out mouse model (ALPL+/-) was established, and a 70% hepatectomy was performed. Changes in liver weight and liver function were measured at PH 1 day, PH 3 day, and PH 7 day (PH1d、PH3d、PH7d) after surgery. In addition, cell proliferation, hepatocyte growth factor (HGF), and vascular endothelial growth factor (VEGF) were performed by Western blotting, immunofluorescence staining, and enzyme linked immunosorbent assay. 【Results】 ALPL knockout mice at PH7d exhibited a lower ratio of liver/total body weight than normal control mice. An analysis of liver function showed no significant difference between the ALPL knockout group and the WT (ALPL+/+) group when the ALPL gene was deleted. While Ki67 staining and PCNA analysis indicated that liver cell proliferation was decreased in ALPL+/- mice at PH1d and increased at PH7d compared to that in ALPL+/+group. Additionally, knockouts of ALPL decreased serum and liver HGF and VEGF levels at PH1d compared to WT controls, but increased at PH7d. 【Conclusion】 The knockout of ALPL leads to a delayed liver regeneration following hepatectomy, which provides theoretical support for exploring the mechanisms underlying liver regeneration after hepatectomy.

Effects of chronic obstructive pulmonary disease patients complicated with OSAHS on hypercapnia and related factors / 中华健康管理学杂志

Objective:To analyze the effects of chronic obstructive pulmonary disease (COPD) combined with obstructive sleep apnea hypopnea syndrome (OSAHS) on hypercapnia and its related factors.Methods:In this cross-sectional study, patients with stable COPD were continuously recruited from July 2016 to December 2018 in the Respiratory Department of Peking University Third Hospital. General clinical data of patients were collected, and lung function test, arterial blood gas analysis and portable sleep monitoring were also conducted. Patients with COPD complicated with apnea hypopnea index (AHI)≥10 times/h and apnea events being mainly blockage-type events, accompanied by snoring, sleep apnea, daytime sleepiness and other symptoms were defined as overlapping group, patients with COPD complicated with AHI<10 times/h were defined as simple COPD group. Correlation analysis and logistic regression model were used to explore the determinants of daytime hypercapnia in patients with COPD.Results:Compared with simple COPD group, the median arterial partial pressure of carbon dioxide (PaCO 2) was significantly higher in the overlapping group (42.00 vs 38.95 mmHg (1 mmHg=0.133 kPa), P<0.001), and the rate of daytime hypercapnia was significantly higher (23.3% vs 3.3%, P=0.002). PaCO 2 was correlated with forced vital capacity (FVC), percent predicted forced expiratory volume in one second (FEV 1%pred), the ratio of residual volume (RV) to total lung capacity (TLC), AHI, nocturnal average transcutaneous oxygen saturation (SpO 2), nocturnal minimum SpO 2 and the total sleep time spent with SpO 2≤90% (T90) (all P<0.05). In logistic regression analysis, after adjusting for age, sex, and body mass index (BMI), only severe OSAHS, GOLD Ⅲ-Ⅳ grade (FEV 1%pred<50%), and T90>1% were independent risk factors for hypercapnia. Conclusions:OSAHS can increase the risk of hypercapnia in patients with COPD. AHI, lung function injury and T90 are closely related to hypercapnia.

Investigation of self-measured health status of college students in Tibetan universities and construction of a standard model / 中华健康管理学杂志

Objective:To investigate the self-measured health status of college students in Tibet, and to construct the self-measured health scale (SRHMS V1.0) norm of College students in Tibet.Methods:This was a cross-sectional study. A multistage stratified sampling method was used. From April to June 2022, a total of 7 990 college students were selected from all colleges and universities in the Tibet Autonomous Region (7 in total). The self-rated health of Tibetan college students was investigated and evaluated by combining demographic information and SRHMS V1.0. Descriptive statistics, t-test, analysis of variance ( Brown-Forsythe test for unequal variance, LSD test for multiple comparisons), and Spearman correlation analysis were used to construct mean norm, percentile norm, and delimitation norm of physiological scale health (PSH), mental scale health (MSH), social scale health (SSH) score and total scale health (TSH) scores. Results:The total score of self-assessed health assessment among college students in Tibetan universities was (72.18±12.35). For different genders, the PSH, MSH, SSH and TSH scores were (73.85±13.78), (65.80±14.73), (69.85±16.00) and (73.44±12.77) for boys and (71.18±13.36), (62.81±14.03), (68.57±14.90) and (70.92±11.94) for girls, respectively. Scores on each subscale and total scale were statistically significant different between the different sexes ( t=2.531, 2.672, 1.867, 2.623, all P<0.05). For different grades, the PSH, MSH, SSH and TSH scores of the freshman were (73.36±13.23), (65.77±14.58), (70.98±15.60) and (73.51±11.91); the sophomore were (70.74±13.73), (62.40±13.60), (66.92±14.62) and (70.16±12.28), the junior were (75.48±13.09), (64.08±15.12), (71.90±15.12) and (74.10±12.36); and the senior were (67.21±14.41), (59.19±17.67), (64.91±18.59) and (66.94±14.59) respectively, with the differences in scores of each subscale and the total scale in different grades being statistically significant ( F=3.952, 3.611, 4.841, 5.583, all P<0.05). The mean norm, percentile norm and demarcation norm of the total score and each subscale of self-measured health of college students in Tibetan universities were constructed with gender and grade as the cut-off values. Conclusion:The model of self-measured health assessment scale for students in colleges and universities in Tibet is established, which can provide evaluation criteria for evaluating the health status of college students in Tibet and plateau areas.

SMILESynergy: Anticancer drug synergy prediction based on Transformer pre-trained model / 生物医学工程学杂志

The synergistic effect of drug combinations can solve the problem of acquired resistance to single drug therapy and has great potential for the treatment of complex diseases such as cancer. In this study, to explore the impact of interactions between different drug molecules on the effect of anticancer drugs, we proposed a Transformer-based deep learning prediction model-SMILESynergy. First, the drug text data-simplified molecular input line entry system (SMILES) were used to represent the drug molecules, and drug molecule isomers were generated through SMILES Enumeration for data augmentation. Then, the attention mechanism in the Transformer was used to encode and decode the drug molecules after data augmentation, and finally, a multi-layer perceptron (MLP) was connected to obtain the synergy value of the drugs. Experimental results showed that our model had a mean squared error of 51.34 in regression analysis, an accuracy of 0.97 in classification analysis, and better predictive performance than the DeepSynergy and MulinputSynergy models. SMILESynergy offers improved predictive performance to assist researchers in rapidly screening optimal drug combinations to improve cancer treatment outcomes.

Characteristics of surface electromyography and postural stability of lower limb muscles in Y-balance test in females aged 18 to 22 years / 中国康复理论与实践

ObjectiveTo investigate the characteristics of electromyography (EMG) and postural stability of lower limb muscles during Y-balance test (YBT) and their relationship. MethodsFrom October to November, 2021, a total of 26 female students aged 18 to 22 years were recruited from Binzhou Medical University to complete YBT; while the EMG of rectus femoris, biceps femoris, tibialis anterior and gastrocnemius of supporting legs were collected synchronously to measure root mean square (RMS), integral electromyography (iEMG), and muscle contribution rate; and the postural stabilities were measured with three-dimensional force platform, to record total, antero-posterior (A/P) and medio-lateral (M/L) path length of center of pressure (COP). ResultsIn three directions of YBT, the RMS of rectus femoris was the most (χ2 > 56.952, P < 0.001), and the iEMG and contribution rate of the tibialis anterior were the most (χ2 > 38.507, P < 0.001). All the path length of COP was the shortest in the anterior (P < 0.05). In the anterior, the total path length of COP correlated with iEMG of biceps femoris (r = 0.452, P = 0.02) and gastrocnemius (r = 0.397, P = 0.045); in the postero-medial, the total path length of COP correlated with iEMG of gastrocnemius (r = 0.478, P = 0.014); and in the postero-lateral, the total path length of COP correlated with iEMG of tibialis anterior (r = 0.437, P = 0.026). ConclusionFor YBT, the activation of rectus femoris, tibialis anterior and gastrocnemius muscles of supporting legs are significant, and different with the indicators of EMG. Postural stability is the best in the posterolateral. The joint extensors or flexors play a different role for dynamic postural stability in the different directions.

The influence of unilateral periacetabular osteotomy on bony birth canal in female patients with DDH using maximum-inscribed-sphere method / 中华骨科杂志

Objective:To investigate the influence of unilateral periacetabular osteotomy (PAO) on the bony birth canal (BBC) in female patients with developmental dysplasia of the hip (DDH) by using pelvic 3D-CT maximum-inscribed-sphere (MIS) method.Methods:A total of 62 female DDH patients of childbearing age were included in the present study. The DICOM data of their pre- and post-operative pelvic CT was collected. The diameters of the MIS in 25 layers of the BBC were measured on the Medical Imaging Interaction Toolkit (MITK) platform. Lateral center edge angle (LCE), T?nnis angle and the distance between the medial margin of the femoral head and Kohler's line were measured on standing anteroposterior pelvic radiographs before and after unilateral PAO. Patients were divided into severe (LCE≤0°) and non-severe group (0°<LCE<20°) according to their LCE values.Results:After unilateral PAO, the BBC above the sciatic spine (1-20th layer) narrowed (0.86-5.95 mm, P<0.05). However, there was no change in levels below the sciatic spine (21-25th layer, P>0.05). The anterior margin of acetabular fragment (1-13th layer) narrowed significantly (4.23-5.95 mm) after unilateral PAO with the narrowest part (5.62-5.95 mm) locating at the inferior margin of pubic ramus and the region superior to the lateral margin of obturator foramen (5-10th layer). The narrowest part of BBC before and after the surgery occurred at the level of bilateral sciatic spines (20th layer). The diameter of MIS changed significantly from 105.34±7.16 mm pre-operatively to 104.47±7.06 mm post-operatively ( t=2.198, P=0.032). There was a positive correlation between the inward displacement of the hip center and the narrowing of the 1-20th layer of the BBC. The decrease of T?nnis angle was positively correlated with the narrowing of the 1-10th layer of the BBC. The increase of LCE was negatively correlated with the narrowing of 2-5th layer of the BBC ( P<0.05). The standardized coefficients were with statistical significance when comparing the distance between the Kohler's line and the medial margin of the femoral head to the size of the 1-20th layer of the BBC ( β=0.27-0.50, P<0.05). The height was positively correlated with the size of the narrowest part of the BBC before and after the surgery ( r=0.565, r=0.586, P<0.001). There was no difference between severe group and non-severe group in their extent of BBC narrowing before and after surgery ( t=-0.685-0.655, P>0.05). Conclusion:Unilateral PAO results in mild narrowing of the BBC superior to the sciatic spine. The narrowest part of the BBC is located at the sciatic spine. Unilateral PAO has slight effects on the narrowest position of the BBC. Normal delivery of a healthy fetus in female patients with DDH of childbearing age could not be affected by unilateral PAO in normal BBC settings.

The effects of periacetabular osteotomy in the treatment of borderline developmental dysplasia of the hip / 中华骨科杂志

Objective:To investigate the effects of periacetabular osteotomy (PAO) in treating borderline developmental dysplasia of the hip (DDH).Methods:The patients with borderline DDH [lateral center-edge angle (LCEA): 18°-25°) who received PAO with follow-up duration for more than 2 years from January 2011 to January 2018 in our hospital were retrospectively analyzed. The patients in the control group were matched on a 1∶2 ratio based on gender, age, body mass index (BMI) and follow-up duration. There were 66 patients in the 0°≤LCEA<10° group and 66 patients in the 10°≤LCEA<18° group. The LCEA, anterior center-edge angle (ACEA), T?nnis angle, femoral head extrusion index, femoro-epiphyseal acetabular roof (FEAR) index, femoral anteversion angle, West Ontario and McMaster University (WOMAC) index and International Hip Outcome Tool (iHOT-12) were compared among the three groups before operation and the last follow-up.Results:In the preoperative 18°≤LCEA<25° group, three of 33 patients (9.1%) had LCEA, because the only imaging feature suggested acetabular dysplasia, while other parameters were evaluated within the normal range. There were 17 patients with ACEA <20° (51.5%), 24 patients (72.7%) with T?nnis angle >10°, 12 patients (36.4%) with ACEA <20° and T?nnis angle >10°. The positive rate of posterior wall signs in the 18°≤LCEA<25° group (72.7%) was lower than that in the 10°≤LCEA<18° group (77.3%) and the 0°≤LCEA<10° group (90.9%) with statistically significant difference (χ 2=6.417, P=0.040) at preoperation. The positive rate of cross sign (27.3%) and ischial spine sign (48.5%) in the 18°≤LCEA<25° group were higher than those in the 10°≤LCEA<18° group (10.6% and 18.2%, respectively, χ 2=7.002, P=0.030) and the 0°≤LCEA<10° groups (9.1% and 13.6%, respectively, χ 2=16.497, P<0.001). The FEAR index in the 18°≤LCEA<25° group (3.7±8.0) lower than that in the 10°≤LCEA<18° group (4.3±7.9) and the 0°≤LCEA<10° group (11.0±8.8) with significant difference ( F=12.703, P<0.001). In the 18°≤LCEA<25° group, postoperative LCEA increased from 20.4°±1.8° to 37.8°±7.1°, ACEA increased from 18.3°±7.8° to 36.3°±6.3°. T?nnis angle decreased from 12.7°±6.2° to -5.6°±9.2°, the femoral head extrusion index decreased from 22.9%±6.7% to 10.7%±12.2%, the WOMAC index decreased from 20.1±13.4 to 6.0±6.3, and the iHOT-12 score increased from 50.2±19.9 to 90.0±13.7. The above difference before and after surgery was statistically significant ( P<0.05). At the last follow-up, the WOMAC score in the 18°≤LCEA<25° group was 6.0±6.3, wich was less than 10°≤LCEA<18° group (9.3±9.6) and 0°≤LCEA<10° group (12.0±16.0) ( F=6.515, P=0.002). The iHOT-12 score in the 18°≤LCEA<25° group was 90.0±13.7, which was greater than 10°≤LCEA<18° group (77.7±17.3) and 0°≤LCEA<10° group (78.1±20.5) ( F=15.833, P<0.001). Conclusion:After 2 years follow-up, PAO significantly improved bone coverage of femoral head and hip function in patients with borderline DDH. Before surgery, we should pay attention to the comprehensive evaluation of different radiological parameters of the acetabulum, to make better preoperative planning.

Clinical observation of supracondylar fracture of humerus requiring surgical nerve exploration / 中国综合临床

Objective:To investigate the clinical effect of minimally invasive treatment of supracondylar fracture of humerus with nerve injury and the need for surgical exploration of nerve.Methods:From August 2017 to September 2020, 34 cases of children with supracondylar fracture of humerus with nerve injury in the Department of orthopedics of Shanxi Children′s Hospital were selected for retrospective analysis.Closed reduction, Kirschner wire fixation and small incision surgery were used to explore the injured nerve.The follow-up period ranged from 6 months to 3 years, with a follow-up time of (2.15±0.49) years.The elbow function, radial nerve, median nerve and ulnar nerve function were evaluated according to the trial standard of upper limb peripheral nerve function evaluation of Hand Surgery Society of Chinese Medical Association.Results:The elbow function of children in this group: excellent 31 cases, good 2 cases, fair 1 cases, poor 0 cases, excellent 33 cases.Three patients failed to take early functional rehabilitation exercise.Two patients recovered after 2.5 months of treatment by professional orthopedic rehabilitation therapists and physical therapy.One of them did not cooperate with functional rehabilitation training.After 3.5 months of treatment by orthopedic rehabilitation therapists, elbow and finger functions were not affected.Two weeks after nerve injury: radial nerve function evaluation: excellent in 15 cases, good in 3 cases, fair in 4 cases, poor in 0 cases, excellent in 18 cases.Median nerve function evaluation: excellent in 5 cases, good in 2 cases, fair in 6 cases, poor in 0 cases, excellent in 7 cases.Ulnar nerve function evaluation: excellent 5 cases, good 0 cases, fair 1 cases, poor 0 cases, excellent 5 cases.At 3 months after injury, the excellent and good rate of radial nerve, median nerve and ulnar nerve was 100%.Conclusion:The supracondylar fracture of humerus with nerve injury is treated by minimally invasive surgery, and the nerve exploration is still a few.The recovery of nerve injury after surgery is smooth, and the clinical effect is good.

Case report of type Ⅱ Bruck syndrome caused by PLOD2 gene mutation combined with loss of heterozygosity / 中华实用儿科临床杂志

To analyze the clinical characteristics and genetic data of a child with type Ⅱ Bruce syndrome (type Ⅱ BS) admitted to the Department of Orthopedics, Shanxi Children′s Hospital at May 2020.A 3-day-old boy was admitted due to the pain and swelling of the right lower limb 3 days after birth.Due to the patient had multiple fractures, callus formation after clavicle and rib fracture, greendstick fracture of the humerus, right femur fracture, left tibia and fibula fracture, congenital clubfoot, and congenital contracture of wrist, elbow, hip and knee joint, and therefore, chromosome diseases were considered.Gene sequencing data showed gene mutation in PLOD2 with compound heterozygosity deletion of the child (proband), and mutation and heterozygosity deletion came from their parents, respectively.The patient was diagnosed as type Ⅱ BS.This case report alarms clinicians to identify a missense mutation of PLOD2 and loss of heterozygosity, so as to reduce the misdiagnosis rate and achieve early diagnosis and treatment.

A single-center study of serum sickness caused by rabbit antithymosinglobulin therapy in children with acquired aplastic anemia / 中华实用儿科临床杂志

Objective:To investigate the related factors of the serum sickness morbidity in the treatment of children with acquired aplastic anemia (AA) by rabbit antithymosinglobulin (ATG), summarize the clinical characte-ristics of serum sickness and evaluate the influence of serum sickness on the prognosis of AA.Methods:The data of patients diagnosed as AA after treated with immunosuppressive therapy (IST) in Beijing Children′s Hospital, Capital Medical University, from March 2016 to December 2018 were collected, and the onset time, clinical manifestations, treatment, and prognosis of serum sickness were analyzed.Results:A total of 48 cases were enrolled, with the median age of 5 years and 5 months (ranging from 2 years and 1 month to 15 years and 6 months), and the proportion of male to female was 1.4∶1.0, 75.0% of the patients(36/48 cases) developed serum sickness.The median onset time was the 11 th day and 72.2% of the patients (26/48 cases) occurred from the 7 th to the 14 th day during IST.The 3 main clinical manifestations included arthralgia (63.9%, 23 cases), fever (52.7%, 19 cases) and rash (52.7%, 19 cases). There was no significant difference in peripheral blood leukocytes, neutrophils and lymphocytes between the patients with serum sickness and patients without serum sickness before IST and during serum sickness (all P>0.05). The incidence of serum sickness in children who received continuous glucocorticoid prophylaxis after IST (2/12 cases, 16.6%) was lower than that of those who did not (34/36 cases, 94.4%), and the difference was significant ( χ2=29.037, P<0.001). The symptoms of serum sickness improved after glucocorticoid therapy [Methylprednisolone 2-4 mg/(kg·d)]. Among 37 children who were followed up for 6 months or more after IST treatment, 25 patients had serum sickness and 12 patients did not have serum sickness.Nineteen patients with serum sickness and 10 patients without serum sickness were cured or markedly improved; 6 patients with serum sickness and 2 patients without serum sickness were not cured.No significant difference in the prognosis between 2 groups was observed ( P>0.05). Conclusion:Children with AA are prone to develop serum sickness after IST treatment.The peak period of incidence of serum sickness is the second week during IST, and the main clinical manifestations of serum sickness include arthralgia, fever, and rash.There is no correlation between the incidence of serum sickness and the blood routine test before IST and during serum sickness.The incidence of serum sickness can be reduced by giving glucocorticoid prophylaxis, and glucocorticoid is still effective after the onset of the serum sickness.There is no correlation between the morbidity of serum sickness and the prognosis of AA treated with IST.

A retrospective analysis of the efficacy and safety of imatinib in children with chronic myeloid leukemia during chronic phase / 中华儿科杂志

Objective@#To evaluate the efficacy and safety of imatinib in the treatment of newly diagnosed chronic myeloid leukemia during chronic phase (CML-CP) in children and to analyze the difference of the efficacy and safety between imported original imatinib (Gleevec) and domestic generic imatinib (Xinwei).@*Methods@#Clinical data of 35 children with newly diagnosed CML-CP in Beijing Children′s Hospital from January 2014 to January 2018 were collected, among which 15 cases were treated with the imported original imatinib (original drug group) and 20 cases were treated with the domestic generic imatinib (generic drug group). The hematological, cytogenetic and molecular reactions and safety of the treatments were monitored at months 3, 6 and 12. Chi square test or rank sum test was used for the comparison between two groups.@*Results@#A total of 35 cases were treated for over 3 months, 31 cases were treated for over 6 months and 25 cases were treated for over 12 months. At 3 months, main cytogenetic response was obtained in 15 (100%) cases in the original drug group and 16 (80%) cases in the generic drug group respectively (χ2=3.387, P=0.119). At 6 months, complete cytogenetic response was obtained in 12 (80%) cases in the original drug group and 10 (63%) cases in the generic drug group (χ2=1.435, P=0.390). At 12 months, BCR-ABLIS ≤ 0.1% was obtained in 11 (92%) cases in the original drug group and 10 (77%) cases in the generic drug group (χ2=1.009, P=0.593). There was no significant difference at all stages (all P>0.05). Hematologic toxicity occurred in 7(20%) cases. The non-hematologic adverse reactions include nausea in 8 (23%) cases, pain in 8 (23%) cases, edema in 6 (17%) cases, emesis in 2 (6%) cases, fever in 2 (6%) cases, weakness in 1 (3%) case, rash in 1 (3%) case. The adverse reactions were easy to control and no drug toxicity related deaths occurred. There was no significant difference in the adverse reactions between original drug group and generic drug group (P>0.05).@*Conclusions@#Imatinib had a good efficacy and safety in the early treatment of newly diagnosed CML-CP in children. The efficacy and safety of generic imatinib is similar to that of imported imatinib.

Efficacy and safety of short course high-dose Dexamethasone as first-line treatment regimen for childhood newly diagnosed immune thrombocytopenia / 中华实用儿科临床杂志

Objective To compare the efficacy and safety of short course and high-dose Dexamethasone (HDD) and conventional Prednisone as first-line strategy for children newly diagnosed as primary immune thrombocytopenia (ITP).Methods This study analyzed pre-experimental data of a single center prospective randomized controlled clinical trial.Newly diagnosed but untreated ITP patients enrolled at the Department of Blood and Cancer Center,Beijing Children's Hospital,Capital Medical University from November 2016 to May 2017 were randomized into HDD group[Dexamethasone 0.6 mg/(kg · d),intravenous injection for 4 days] and Prednisone group [Prednisone 2 mg/(kg · d) for 14-28 days and then tapered within 1-2 months,the course of treatment less than 3 months].Initial response,sustained response and adverse effects after therapy were observed in 2 groups.Results Sixty-six children with ITP were included in the study:32 patients were in the HDD group and 34 patients were in the Prednisone group.Two groups were matched in the baseline characteristics including gender,age,platelet counts and disease course before therapy and bleeding assessment (all P ＞ 0.05).The initial response (the response of HDD group within 10 days of treatment and Prednisone group within 28 days of treatment):overall initial response had no statistical difference between the HDD group and the Prednisone group[90.6％ (29/32 cases) vs.100.0％ (34/34 cases),x2 =1.528,P ＞ 0.05].HDD group had a lower incidence of complete response compared with that in the Prednisone group [54.4％ (19/32 cases) vs.94.1％ (32/34 cases),x2 =11.330,P =0.001];median time of response in two groups showed no statistically difference (2 d vs.1 d,Z =-0.149,P ＞ 0.05).There was no significant difference in the recovery of skin and mucosal bleeding after treatment between the Dexamethasone group and the Prednisone group (Z =-1.413,-1.031,all P ＞ 0.05).The sustained response (the response lasted for up to 6 months and above):overall and complete sustained response had no statistically difference between the HDD group and the Prednisone group [92.9％ (26/ 28 cases) vs.85.3％ (29/34 cases),P =0.594;78.9％ (15/19 cases) vs.81.3％ (26/32 cases),P=1.000].Log-rank test showed no significant difference in the duration of response between 2 groups (P =0.341).The side effects in the Prednisone group included weight gain or Cushing sign (94.1％) and mental and emotional changes (23.5％);in the HDD group 15.6％ of children had infection,without other glucocorticoid-related side effects.There was no significant difference in the incidence of infection between two groups[15.6％ (5/32 cases) vs.26.5 ％ (9/34 cases),P =0.281].All of the above infections were of respiratory tract infections and mild gastrointestinal infections.Conclusions Efficacy of the HDD group in the initial and sustained responses is similar,but side effects were apparently lower compared with that in the Prednisone group.However,a large multicenter randomized controlled clinical study is necessary to confirm this result.

Efficacy and safety of short course high-dose Dexamethasone as first-line treatment regimen for childhood newly diagnosed immune thrombocytopenia / 中华实用儿科临床杂志

Objective@#To compare the efficacy and safety of short course and high-dose Dexamethasone (HDD) and conventional Prednisone as first-line strategy for children newly diagnosed as primary immune thrombocytopenia (ITP).@*Methods@#This study analyzed pre-experimental data of a single center prospective randomized controlled clinical trial.Newly diagnosed but untreated ITP patients enrolled at the Department of Blood and Cancer Center, Beijing Children's Hospital, Capital Medical University from November 2016 to May 2017 were randomized into HDD group[Dexamethasone 0.6 mg/(kg·d), intravenous injection for 4 days]and Prednisone group[Prednisone 2 mg/(kg·d) for 14-28 days and then tapered within 1-2 months, the course of treatment less than 3 months]. Initial response, sustained response and adverse effects after therapy were observed in 2 groups.@*Results@#Sixty-six children with ITP were included in the study: 32 patients were in the HDD group and 34 patients were in the Prednisone group.Two groups were matched in the baseline characteristics including gender, age, platelet counts and disease course before therapy and bleeding assessment (all P>0.05). The initial response (the response of HDD group within 10 days of treatment and Prednisone group within 28 days of treatment): overall initial response had no statistical difference between the HDD group and the Prednisone group[90.6%(29/32 cases) vs.100.0%(34/34 cases), χ2=1.528, P>0.05]. HDD group had a lower incidence of complete response compared with that in the Prednisone group[54.4%(19/32 cases) vs.94.1%(32/34 cases), χ2=11.330, P=0.001]; median time of response in two groups showed no statistically difference (2 d vs.1 d, Z=-0.149, P>0.05). There was no significant difference in the recovery of skin and mucosal bleeding after treatment between the Dexamethasone group and the Prednisone group (Z=-1.413, -1.031, all P>0.05). The sustained response (the response lasted for up to 6 months and above): overall and complete sustained response had no statistically difference between the HDD group and the Prednisone group [92.9%(26/28 cases) vs.85.3%(29/34 cases), P=0.594; 78.9% (15/19 cases) vs.81.3%(26/32 cases), P=1.000]. Log-rank test showed no significant difference in the duration of response between 2 groups (P=0.341). The side effects in the Prednisone group included weight gain or Cushing sign (94.1%) and mental and emotional changes (23.5%); in the HDD group 15.6% of children had infection, without other glucocorticoid-related side effects.There was no significant difference in the incidence of infection between two groups[15.6%(5/32 cases) vs.26.5%(9/34 cases), P=0.281]. All of the above infections were of respiratory tract infections and mild gastrointestinal infections.@*Conclusions@#Efficacy of the HDD group in the initial and sustained responses is similar, but side effects were apparently lower compared with that in the Prednisone group.However, a large multicenter randomized controlled clinical study is necessary to confirm this result.

Single-center clinical analysis of hereditary thrombocytopenia in children with chronic thrombocytopenia / 中华实用儿科临床杂志

Objective@#To know the detection rate of hereditary thrombocytopenia (HT) in children with chronic thrombocytopenia and its clinical and laboratory characteristics for an early clinical identification and diagnosis of HT in future.@*Methods@#Data of the children with thrombocytopenia, who had been treated in Beijing Children′s Hospital from April 2016 to May 2018 and whose present history lasted for more than 1 year and had poor response to immunotherapy were retrospectively collected.HT was screened in these patients by adopting next generation sequencing (NGS). Finally, clinical and laboratory characteristics of these children with HT were summarized and analyzed.@*Results@#A total of 161 children with chronic thrombocytopenia were included.Forty-three cases (26.7%) were found to have gene mutations.The genetic rules of the mutant gene, the family verification and the clinical manifestations of the proband and some related laboratory tests were analyzed and 24 cases (14.9%) can be diagnosed as HT.Among the HT patients, the proportion of males and females was 159, and the median onset of age was 0.58 years, which was significantly lower than that of non-HT cases (the median onset of age was 4.36 years), and the difference was statistically significant (P<0.001); the proportion of mucosal hemorrhage and visceral hemorrhage (31.8% and 13.7%) of HT was significantly higher than non-HT cases (15.3% and 0.6%), and the difference was statistically significant (P<0.001). Fifty percent of (12/24 cases) cases of HT had positive family history; according to the ave-rage platelet volume and platelet morphology in peripheral blood smear, HT could be divided into small platelet HT, po-sitive platelet HT and large platelet HT.Some cases had well response to immunotherapy but seemed easy to relapse du-ring the withdrawal period, while the others responded poorly to therapy.Different clinical manifestations of HT suggest different pathogenesis, which can be divided into the related types of megakaryocyte differentiation defect, megakaryocyte maturation defect, platelet release defect and platelet survival time shortening.@*Conclusions@#The pathogenesis and cli-nical phenotype of HT was different.Some of them were effective for immunotherapy, which were easily confused with immune thrombocy-topenla(ITP). It is clinically necessary to perform NGS in children with thrombocytopenia at early onset, abnormal platelet morphology, prolonged disease course or severe mucosal/visceral hemorrhage, in order to recognize HT timely to avoid delay in diagnosis and poor prognosis.

Single-center clinical analysis of hereditary thrombocytopenia in children with chronic thrombocytopenia / 中华实用儿科临床杂志

Objective To know the detection rate of hereditary thrombocytopenia (HT) in children with chronic thrombocytopenia and its clinical and laboratory characteristics for an early clinical identification and diagnosis of HT in future.Methods Data of the children with thrombocytopenia,who had been treated in Beijing Children's Hospital from April 2016 to May 2018 and whose present history lasted for more than 1 year and had poor response to immunotherapy were retrospectively collected.HT was screened in these patients by adopting next generation sequencing (NGS).Finally,clinical and laboratory characteristics of these children with HT were summarized and analyzed.Results A total of 161 children with chronic thrombocytopenia were included.Forty-three cases (26.7％) were found to have gene mutations.The genetic rules of the mutant gene,the family verification and the clinical manifestations of the proband and some related laboratory tests were analyzed and 24 cases (14.9％) can be diagnosed as HT.Among the HT patients,the proportion of males and females was 15 ∶ 9,and the median onset of age was 0.58 years,which was significantly lower than that of non-HT cases (the median onset of age was 4.36 years),and the difference was statistically significant (P ＜ 0.001);the proportion of mucosal hemorrhage and visceral hemorrhage (31.8％ and 13.7％) of HT was significantly higher than non-HT cases (15.3％ and 0.6％),and the difference was statistically significant (P ＜ 0.001).Fifty percent of (12/24 cases) cases of HT had positive family history;according to the average platelet volume and platelet morphology in peripheral blood smear,HT could be divided into small platelet HT,positive platelet HT and large platelet HT.Some cases had well response to immunotherapy but seemed easy to relapse during the withdrawal period,while the others responded poorly to therapy.Different clinical manifestations of HT suggest different pathogenesis,which can be divided into the related types of megakaryocyte differentiation defect,megakaryocyte maturation defect,platelet release defect and platelet survival time shortening.Conclusions The pathogenesis and clinical phenotype of HT was different.Some of them were effective for immunotherapy,which were easily confused with immune thrombocy-topenla(ITP).It is clinically necessary to perform NGS in children with thrombocytopenia at early onset,abnormal platelet morphology,prolonged disease course or severe mucosal/visceral hemorrhage,in order to recognize HT timely to avoid delay in diagnosis and poor prognosis.

Recurrent petechia and epistaxis in a patient diagnosed as diabetes mellitus for 2 years / 中华实用儿科临床杂志

To analyze respectively a case,presented with recurrent petechial and epistaxis after a 2 years history of diabetes mellitus (DM),who was hospitalized in Beijing Children's Hospital Affiliated to Capital Medical University.The clinical manifestation,examination,diagnosis and treatment were recorded.The patient was diagnosed with immune thrombocytopenia (ITP) and DM at the first admission.The initial therapy with gamma globulin didn't show ideal effect.The pediatric specialists from the department of ENT,Hematology/Oncology,Endocrinology,Pharmacy and Immunodeficiency Clinic were invited to discuss the case.The final diagnosis of autoimmune polyglandular syndrome (APS) was made and supplementary steroid treatment was started.But the response of the steroid therapy was poor.Once again with the multidisciplinary consultation,the patient received several schemes of Rituximab under the informed consent.This treatment reached a stable condition for almost 7 years.APS should be considered when DM patient showed the manifestation of other immune organ damages.Rituximab immunosuppressive therapy should be tried when the response to first-line treatment was poor.

Application of Mohs microsurgery in nasal basal cell carcinoma / 中华耳鼻咽喉头颈外科杂志

Objective@#To discuss the application of Mohs microsurgery in nasal and facial basal cell carcinoma (BCC) and analyze the pathological and clinical features. @*Methods@#The clinical data of 127 patients who were diagnosed by pathology as nasal and facial BCC in Qilu Hospital of Shandong University from January 2010 to January 2015 were retrospectively analysed. The value of Mohs microsurgery was discussed and the nasal & facial sites of BCC lesions, clinical and histopathology features were summarized. @*Results@#The proportion of male and female was 1.27︰1 in 127 patients, the ages ranged from 27 to 91 years. The top three inflicted area in nasal and facial was followed by nasal dorsum, nasal root and upper lip.The most frequent clinical type was nodular ulcerative type.The most common pathological type was nodular and pigmented. Routine surgical resection was performed in 62 cases (48.8%) while Mohs micrographic surgery in 38 cases (29.9%). Follow-up duration was 37 months on average. Local recurrence occurred in 5 cases in routine surgical resection group while there was no recurrence in Mohs micrographic surgery group. There was no distant metastasis in all cases. @*Conclusions@#There are few specific clinical manifestation in nasal & facial BCC. Surgical treatment is prefered, especially by Mohs micrographic surgery, because it can strictly control the scope of surgical resection and obtain malformation repairment as well as beauty in nasal and facial region.

Efficacy of immunosuppressive therapy combined with recombinant human thrombopoietin on severe aplastic anemia in children / 中华实用儿科临床杂志

Objective To evaluate the impact of recombinant human thrombopoietin(rhTPO)in response of immunosuppressive therapy(IST)in children with severe aplastic anemia(SAA). Methods A retrospective analysis was made. The clinical data included 70 children with acquired aplastic anemia (AA)treatment with antithymocyte globulin(ATG)combined with Cyclosporine at Beijing Children's Hospital,Capital Medical University between January 2009 and December 2016. Thirty - six cases received standard IST(IST group),and 34 cases received standard IST combined with rhTPO (IST + rhTPO group ). The SPSS 19. 0 statistical package was used for data analysis. Results Three months after IST,the hematologic response rate in the IST + rhTPO group was much higher than that in the IST group [88. 2％(30 / 34 cases)vs. 33. 3％ (12 / 36 cases),and there was significant difference between 2 groups (χ2 = 21. 961,P = 0. 000). The hematologic response rate at 6 months,12 months and the endpoint of follow - up in the IST + rhTPO group were 76. 7％(23 / 30 cases),78. 9％(15 / 19 cases),70. 6％(24 / 34 cases),and which in the IST group were 63. 9％(23 / 36 cases),75. 1％(27 / 36 cases),75. 0％(27 / 36 cases),which were not significant difference between the 2 groups(all P > 0. 05). The median time of partial remission (PR)was 1. 5 months,and the median time of complete remission (CR)was 6 months in IST + rhTPO group. The median time of PR was 4 months,and the median time of CR was 14 months in the IST group. By the endpoint of follow - ups,the median time of platelet transfusion in-dependence(33 d)and red cell transfusion independence(39 d)in the rhTPO group were all shorter than those in the IST group(78. 0 d and 93. 5 d,respectively),and there were a significant differences between the 2 groups(all P <0. 05). By 3 months after IST,the level of platelet,hemoglobin and absolute reticulocyte counts(ARC)in the IST +rhTPO group were much higher than those in the IST group(48 × 109 / L vs.14 ×109 / L,104. 5 g/ L vs 66. 5 g/ L,60.34 × 109 / L vs. 50. 92 × 109 / L,respectively),and there were significant differences between the 2 groups (all P < 0. 05). There was no differences of those at 6 months,12 months after IST between the 2 groups(all P > 0. 05). The 3 - year overall survival(OS)rate was 100. 0％(34 / 34 cases)in the IST + rhTPO group,87. 5％(32 / 36 cases)in the IST group,and there was no significant difference between the 2 groups (P > 0. 05). Conclusions Three months of rhTPO treatment after IST could improve early hematologic response rate in children with newly diagnosed acquired SAA. It may speed up recovery of platelet and hemoglobin levels and had no significant impacts on long - term hematologic response rate,platelet or hemoglobin recovery and OS rate.

Correlation of genotype, phenotype and treatment efficacy of Diamond-Blackfan anemia / 中华实用儿科临床杂志

Objective To analyze the correlation between genotype,clinical manifestations and treatment response in patients diagnosed as Diamond-Blackfan anemia (DBA) with a clear pathogenic gene mutation.Methods Retrospective investigation was performed of the genetic and clinical data of 42 patients diagnosed as DBA with a definite mutation from December 2009 to October 2017 in Beijing Children's Hospital,Capital Medical University and DBA China group.Results Among 42 patients,no one patient could successfully stop the therapy during the median follow-up time of 40 months (1-136 months).Nucleotide-level mutations or large deletions were identified in 7 ribosomal genes as RPL5,RPL11,RPL35a,RPS17,RPS19,RPS24 and RPS26.The most common gene mutation group was RPS19 (42.9％),followed by RPL11(19.0％),RPS17(11.9％),RPS26(11.9％),RPL5 (7.1％) and RPL35a(4.8％).The median onset hemoglobin level was 42.5 g/L.A total of 12 patients had physical malformation,with the most common on heart and fingers.A total of 37 patients received hormone therapy,and the total initial response rate was 89.2％ (33/37 cases).One of the patients with hormone inefficiency was treated successfully with cyclosporin A,and the other 3 patients were treated with blood transfusion.Conclusions RPS19 was the most common gene mutation in DBApatients.Most of the RPS17 mutations were copy number variation.The deletion of large fragments should be paid more attention to in the detection of DBA genetic analysis.Patients with RPL5 mutation showed more malformation than other groups.No significant difference was found in terms of age of onset,hemoglobin level of onset,incidence of malformation and effective rate of hormone treatment in each group.

The incidence and risk factors of catheter-related-thrombosis during induction chemotherapy in acute lymphocytic leukemia children / 中华血液学杂志

Objective@#To investigate the current status of catheter-related-thrombosis (CRT) and the risk factors of Chinese acute lymphocytic leukemia (ALL) children with peripherally inserted central catheter (PICC) .@*Methods@#The clinical data of the 116 inpatients preliminarily diagnosed ALL in the Leukemia Ward of Beijing Children’s Hospital with PICC from 1st March 2014 to 31st December 2014 were collected prospectively.@*Results@#①Refer to the B-ultrasound on the 15th day after catheterization, the incidence of CRT was 28.4% (33/116 cases) , all cases were symptom-free. ②There were no statistical differences in terms of gender, age distribution, degree, immunotype between CRT and CRT-free groups. This study revealed no statistical differences of blood routine test items, coagulation function items, co-infection and catheterization vein between the two groups. While there was significant statistical difference of catheterization side, the frequency of right catheterization was higher in CRT group[75.8% (25/33) vs 55.4% (46/83) , P=0.043]. ③On the 15th day after catheterization, significant statistical difference of D-Dimer between the two groups was revealed[0.18 (0.05-2.45) mg/L vs 0.11 (0.01-5.34) mg/L, P=0.001], while no statistical differences of blood routine test items and other coagulation function items. Multivariate Logistic regression analysis verified catheterization on right was a risk factor of CRT. ④During the observation, there were 3 cases of catheter-related complications other than CRT, all of which were CRI, 2 of them had CRT meanwhile. ⑤The B-ultrasound on the 33rd day after catheterization showed that 73.1% of the cases had reduced thrombosis, 3.8% had growth thrombosis, 23.1% had no obvious change respectively.@*Conclusion@#CRT was a common catheter related complication among ALL children during induction chemotherapy, and CRT cases with symptoms were rare. Catheterization on right was a risk factor for CRT, and regular test of D-Dimer and B ultrasound contributed to detect CRT. Most of the CRT cases had reduced thrombosis without specific management.