Objective:To analyze the clinical features of pachydermoperiostosis (PDP) and improve its diagnostic level.Methods:A retrospective analysis was conducted on the clinical data of four patients with PDP treated at Sun Yat-sen Memorial Hospital, Sun Yat-sen University from 2015 to 2023, including clinical manifestations, laboratory tests, imaging examinations, and genetic testing results.Results:All four patients were male with an average onset age of 15 years old (ranging from 9 to 18 years old). One patient′s uncle had PDP, and another patient′s parents were consanguineous, though neither parent showed signs of PDP. All four patients exhibited clubbing, skin thickening, and acne; three had frontal bossing and deepened nasolabial folds; two showed scalp sulci changes on head MRI, and all had periosteal thickening of the phalanges visible on X-ray. One patient accompanied with hypokalemic nephropathy, and another had gastric ulcer. One patient underwent whole exome sequencing test which revealed a homozygous mutation, SLCO2A1 gene c.1406C>T, leading to a protein change p.Pro469Leu. Computational tools REVEL, SIFT, and Polyphen2 predicted this variant as deleterious.Conclusion:In addition to skin thickening, frontal bossing, scalp sulci changes, clubbing, and periosteal proliferation, patients with PDP may also present with hypokalemic nephropathy and gastric ulcer. The SLCO2A1 gene c.1406C>T mutation may be pathogenic.

Objective:To analyze the clinical features of pachydermoperiostosis (PDP) and improve its diagnostic level.Methods:A retrospective analysis was conducted on the clinical data of four patients with PDP treated at Sun Yat-sen Memorial Hospital, Sun Yat-sen University from 2015 to 2023, including clinical manifestations, laboratory tests, imaging examinations, and genetic testing results.Results:All four patients were male with an average onset age of 15 years old (ranging from 9 to 18 years old). One patient′s uncle had PDP, and another patient′s parents were consanguineous, though neither parent showed signs of PDP. All four patients exhibited clubbing, skin thickening, and acne; three had frontal bossing and deepened nasolabial folds; two showed scalp sulci changes on head MRI, and all had periosteal thickening of the phalanges visible on X-ray. One patient accompanied with hypokalemic nephropathy, and another had gastric ulcer. One patient underwent whole exome sequencing test which revealed a homozygous mutation, SLCO2A1 gene c.1406C>T, leading to a protein change p.Pro469Leu. Computational tools REVEL, SIFT, and Polyphen2 predicted this variant as deleterious.Conclusion:In addition to skin thickening, frontal bossing, scalp sulci changes, clubbing, and periosteal proliferation, patients with PDP may also present with hypokalemic nephropathy and gastric ulcer. The SLCO2A1 gene c.1406C>T mutation may be pathogenic.

BACKGROUND:Tissue engineering is considered an ideal treatment for growth plate regeneration.However,most of the current research on regenerative tissue engineering is the traditional scaffold-based strategy.As the limitations of traditional scaffolds are gradually revealed,the research direction is gradually diversifying. OBJECTIVE:To summarize the application of scaffold-based and scaffold-free strategies in the treatment of growth plate cartilage regeneration and their respective advantages and disadvantages. METHODS:The relevant articles were searched from PubMed,Wiley,and Elsevier.The search terms were"growth plate injury,regeneration,tissue engineering,scaffold,scaffold-free,biomimetic,cartilage"in English.The time was limited from 1990 to 2023.Finally,104 articles were included for review. RESULTS AND CONCLUSION:The biomimetic strategy is to reduce the cell composition,biological signals and unique mechanical properties of each region to the greatest extent by simulating the unique organizational structure of the growth plate,so as to build a biomimetic microenvironment that can promote tissue regeneration.Therefore,the design of a biomimetic scaffold is to simulate the original growth plate as far as possible in terms of composition,structure and mechanical properties.Although some results have been achieved,there is still the problem of the unstable regeneration effect.The scaffold-free strategy believes that the limitations of scaffolds will have adverse effects on regenerative therapy.Therefore,the design of scaffold-free constructs relies as much as possible on the ability of cells to generate and maintain extracellular matrix without interfering with cell-cell signals or introducing exogenous substances.However,there are some problems,such as poor stability,low mechanical strength and greater difficulty in operation.Biomimetic strategy and scaffold-free strategy have different emphases,advantages and disadvantages,but they both have positive effects on growth plate cartilage regeneration.Therefore,subsequent studies,whether adopting a biomimetic strategy or a scaffold-free strategy,will focus on the continuous optimization of existing technologies in order to achieve effective growth plate cartilage regeneration therapy.

Objective: Tracking the information on 1.69 million fetal cases across Guangxi Zhuang Autonomous Region (Guangxi) so as to study the occurrences of total and major birth defects in order to evaluate the ability on related prevention and control programs in Guangxi. Methods: Using the self-developed "Gui Women’s System" to establish a database of 1.69 million fetal cases in Guangxi and to analyze the distribution of time, space and population, as well as the outcomes of pregnancy, using the big data. Results: During the 29 months of observation, the overall live birth rate was 99.25%, with stillbirth rate during pregnancy as 0.44%, stillbirth rate during birth as 0.02%, and the 0-6 days mortality rate as 0.14%. The total detection rate on birth defects was 197.63/10 000; the incidence rate was 103.04/10 000, the birth rate was 102.55/10 000. The overall discovery rate of major birth defects was 48.33/10 000, with the incidence rate as 783 000, the birth rate as 0.58/10 000. The discovery rates of major birth defects in 14 cities were between 35 and 68/10 000, and the birth rate dropped significantly to less than 1.00 in 10 000. Nationalities showed that the number of pregnant women with birth defects more than 50 000 would include Hui (9.68/10 000), Yao (9.57/10 000), and Jing (9.37/10 000). With the increasing age of gestation, number of birth defects, incidence of major birth defects also increased. Ninety-five percent of the major birth defects were found within <28 weeks and with the top 5 kinds of major birth defects as complicated congenital heart disease (9.11/10 000), alpha thalassemia (8.36/10 000), and 21-trisomy syndrome (7.85/10 000), beta thalassemia (5.32/10 000) and fetal edema syndrome (4.92/10 000). The top 5 major birth defects appeared as complicated congenital heart disease (9.11/10 000), alpha thalassemia (8.36/10 000), and 21-trisomy syndrome (7.85/10 000), beta thalassemia (5.32/10 000) and fetal edema syndrome (4.92/10 000). Conclusion Programs leading to increase the rate on discovery of major birth defects were fundamental in effectively reducing the major birth defects.

Objective To investigate clinical characteristics and renal uric acid excretion in early-onset gout patients.Methods Consecutive inpatients with primary gout were recruited between 2013 and 2017.The patients with gout onset younger than 30 were defined as early-onset group while the others were enrolled as control group.Clinical characteristics and uric acid (UA) indicators were compared between two groups.Results Among 202 recruited patients,the early-onset group included 36 patients (17.8％).Compared with control group,the early-onset group presented more patients with obesity [13 patients (36.1％) vs.22 patients (13.3％),P＜0.05],significantly higher serum UA level [(634± 124)μmol/L vs.(527± 169).μmol/L] and glomerular load of UA[(7.2±2.8)mg· min-1 · 1.73m-2 vs.(4.4±2.2)mg· min-1 · 1.73m-2] and estimated glomerular filtration rate (GFR) [(83±21)ml· min-1 · 1.73m-2 vs.(67±21)ml· min-1 · 1.73m-2] (all P＜ 0.05),lower fractional excretion of UA [4.4％ (3.4％,6.1％) vs.7.2％ (5.2％,9.6％),P＜0.05],whereas 24h urinary UA excretion was comparable [(2 788±882)l,μmol/1.73m2 vs.(2 645±1 140)μmol/1.73m2,P=0.274].Subgroup analysis of patients without chronic kidney disease showed significantly lower fractional excretion of UA in the early-onset group [4.5％(3.3％,6.1％) vs.6.7％ (5.1％,8.7％),P＜0.05].Logistic regression analysis showed that obesity (OR=3.25) and fractional excretion of UA less than 7％ (OR=9.01,all P＜0.05) were risk factors of gout early onset.Conclusion The gout patients with early-onset younger than 30 present high serum and glomerular load of uric acid which might be due to obesity and relative under-excretion of renal uric acid.

Objective To observe the efficacy and safety of tocilizumab on patients with refractory rheumatoid arthritis (RA).Methods Eighteen RA patients who were refractory to disease-modifying antirheumatic drugs (DMARDs) or tumor necrosis factor-α (TNF-α) antagonist were treated with tocilizumab were included into this study.Their clinical disease activity indices,Hospital Anxiety and Depression Scale (HADS)and safety were evaluated regularly.Statistical analysis was conducted with Mann-Whitney U test and x2 test.Results According to clinical disease activity index,44％(8/18) of patients reached treatment target 2 weeks after the first infusion of tocilizumab,and 78％ (14/18) reached treatment target after three infusions of tocilizumab.Fifty-six percent (10/18) of patients had anxiety and 22％ (4/18) had depressive symptoms at baseline.After three infusions of tocilizumab,6％(1/18) had anxiety symptoms and 11％(2/18) had depressive symptoms.The adverse effects included upper respiratory tract infection,aminotransferase elevation and neutropenia (3 patients,respectively).Conclusion Tocilizumab can rapidly and significantly improve the disease activity and psychological state with good tolerance and safety,which can be applied to Chinese refractory RA patients who failed with DMARDs or TNF-α antagonist.

Objective To study the relationship between sensation seeking,personality characteristics and health-risk behaviors of medical freshmen.Methods Sensation Seeking Scale ( SSS),Eysenck Personality Questionnaire( EPQ),Adolescent Health-Risk Behaviors Questionnaire were applied in this survey to 384 freshmen from two medical colleges.Results ① The health risk behaviors were comnmon in the medical college freshmen (5.2％,48.2％ ),and the score of health risk behaviors had a significant difference between boys and girls,boys risk behaviors were much more than girls(P＜ 0.05 ).②The correlations between the risk behaviors (such as smoking,drinking,fighting,suicidal ideas,using internet too long,poor eating behavior,lack of physical exercise) and sensation seeking personality traits were strong.The health-risk behaviors were all correlated with extraversion(E)and neuroticism (N) significantly( 66.78 ± 10.29 vs 60.57 ± 9.09,t =2.54,P ＜ 0.01 ;7.11 ± 3.23 vs 5.33 ±2.89,t =2.81,P ＜ 0.05 ).③The results of logistic regression analysis showed that male mother' s high education level,sensation seeking,Eysenck' s P,N dimension were effective prediction factors of freshmen ' s health-risk behaviors.Conclusion Medical college freshmen who have higher levels of sensation seeking,Eysenck' s P,N dimension are more prone to health risk behaviors.