A 20-year-old male patient presented to the Department of Dermatology of Peking Union Medical College Hospital with complaints of an 8-year history of facial scarring, swelling of the lower limbs, and a 4-year history of scalp thickening. Physical examination showed thickening furrowing wrinkling of the skin on the face and behind the ears, ciliary body hirsutism, blepharoptosis, and cutis verticis gyrate. Both lower limbs were swollen, especially the knees and ankles. The skin of the palms and soles of the feet was keratinized and thickened. Laboratory examination using bone and joint X-ray showed periostosis of the proximal middle phalanges and metacarpals of both hands, distal ulna and radius, tibia and fibula, distal femurs, and metatarsals.Genetic testing revealed two variants in SLCO2A1, c.1658T > A and c.96+4A > C.Through multidisciplinary consultation, we confirmed the diagnosis of pachydermoperiostosis.

ObjectiveTo provide a basis for the establishment of an ideal animal model of allergic asthma by statistically analyzing the modeling characteristics and the selection of indicators of the available models. MethodsWe retrieved the relevant articles from China National Knowledge Infrastructure（CNKI）， VIP， Wanfang Data， SinoMed， and PubMed with "allergic asthma" as the keyword and the time interval from January 2019 to January 2024. Through integrating the literature and extracting data， we used Excel 2021 to create a personal database and sorted out the animal strains， genders， allergenic substances， modeling routes， and test indicators and methods. Excel 2021， Cytoscape 3.10.2， and SPSS Modeler 18.0 were then used to analyze the relevant characteristics of the animal models. ResultsA total of 418 articles were included in the database， and the comparative analysis showed that the most frequently used animal strain for modeling was BALB/c mice， and female animals were mostly used. The main modeling method was sensitization by intraperitoneal injection of ovalbumin （OVA）， which was combined with intranasal inhalation. The test indicators mainly included appearance signs， cellular analysis， lung histopathology， lung function indicators， and protein and gene expression in the lung. The test methods mainly involved pathological staining， enzyme-linked immunosorbent assay， immunohistochemistry， immunofluorescence， Western blot， and polymerase chain reaction（PCR） assays. ConclusionThere is no recognized modeling method or evaluation standard for the animal models of allergic asthma. Based on the results of data analysis， the OVA-induced allergic asthma model in BALB/c mice is recommended. The main criteria for evaluating the success of modeling are the general behavioral changes， the morphological changes of the airway and inflammatory cell infiltration in the lung tissue， the changes of pro-inflammatory and anti-inflammatory cytokines in the serum， and the alterations of inflammatory cells in the bronchoalveolar lavage fluid.

AIM: To investigate the correlation of degree of myopia in adolescents with axial length, corneal curvature and axial ratio.METHODS: Cross-sectional study. A total of 246 adolescents(492 eyes)aged 8-18 years consecutively enrolled for orthokeratology lens fitting at the Fifth Affiliated Hospital of Zhengzhou University between 2021 and 2023 were included based on random sampling method, with 447 eyes finally included due to the elimination of 45 eyes that did not meet the inclusion criteria. Biometric measurements under scotopic conditions assessed axial length(AL), corneal radius of curvature(CR), and AL/CR ratio. Cycloplegic refraction determined spherical equivalent(SE), classifying eyes into mild(216 eyes)or moderate(231 eyes)myopia groups. Furthermore, the correlation of degree of myopia with AL, CR and AL/CR was analyzed by multiple linear regression analysis.RESULTS: A statistically significant difference in myopia severity was observed between the 8-12-year-old and 13-18-year-old age groups(all P<0.001). There were statistically significant differences between mild and moderate groups in SE, AL and AL/CR(all P<0.001). Linear regression analysis revealed significant negative correlations of SE with AL and AL/CR(r=-0.531, -0.598, all P<0.001). The areas under the ROC curve(AUC)for predicting moderate myopia were 0.812(95% CI: 0.773-0.852)for AL/CR combined with gender and age, 0.800(95% CI: 0.759-0.841)for AL/CR alone, 0.726(95% CI: 0.680-0.773)for AL alone, and 0.548(95% CI: 0.494-0.601)for CR alone. The optimal AL/CR cut-off value for predicting moderate myopia was 3.189(sensitivity: 0.632, specificity: 0.852), suggesting its potential as a clinical threshold.CONCLUSION: In adolescents with mild-to-moderate myopia, AL/CR, AL, and SE showed significant negative correlations. The combination of AL/CR with gender and age demonstrated the highest diagnostic accuracy for SE. AL/CR shows independent predictive value for myopia degree in adolescents, irrespective of refractive status.

Objective To investigate the effect of varying ureteral wall thickness(UWT)at the site of ureteral stones on the clinical efficacy of ureteroscopic lithotripsy(URL).Methods The clinical data of 164 patients with ureteral stones in our hospital were retrospectively analyzed.According to different UWT,the patients were divided into the mild thickening group(84 cases,UWT<3.16 mm),the moderate thickening group(31 cases,UWT 3.16 to 3.49 mm),and the severe thickening group(49 cases,UWT>3.49 mm),and the differences of clinical related indicators among the three groups were compared.Results The incidence of postoperative renal colic and leukocyte disorder in the mild thickening group and the moderate thickening group were lower than those in the severe thickening group,and the differences were statistically significant(P<0.05).The postoperative catheterization time in the mild thickening group and the moderate thickening group were shorter than that in the severe thickening group,and the incidences of secondary lithotripsy,residual stones and stone return to kidney in the mild thickening group and the moderate thickening group were lower than those in the severe thickening group,with statistically significant differences(P<0.05).The length of hospital stay and hospitalization cost in the mild thickening group and the moderate thickening group were shorter/less than those in the severe thickening group,with statistically significant differences(P<0.05).Conclusion With the increase of UWT(especially when UWT>3.49 mm),the incidence of postoperative complications and hospitalization cost of URL increase to varying degrees,and the surgical efficacy decreases.In clinical work,UWT measurement holds potential value in predicting the surgical efficacy and complications of URL.

Objective To comparatively observe the value of TIPS combined with catheter-directed thrombolysis and percutaneous transhepatic portal vein catheterization thrombolysis for acute non-cirrhotic non-neoplastic portal vein thrombosis(PVT).Methods Twenty-five patients with acute non-cirrhotic non-neoplastic PVT were retrospectively enrolled and clustered into TIPS group(n=17,underwent TIPS combined with catheter-directed thrombolysis)and liver puncture group(n=8,underwent percutaneous transhepatic portal vein catheterization thrombolysis)according to the access of thrombolysis.The technical success rate,duration of catheter-directed thrombolysis,complications within 7 days,as well as portal vein patency 3 months after treatment,Child-Pugh grading of liver function and occurrence of hepatic encephalopathy(HE)were recorded and compared between groups.Results The technical success rates were both 100%in 2 groups.There was no significant difference of the duration of catheter-directed thrombolysis between groups(P＞0.05).The thrombolytic effect in TIPS group was better than that in liver puncture group(P＜0.05).No significant difference of the occurrence of bleeding within 7 days was found between groups(P＞0.05).After 3 months'follow-up,the degree of portal vein patency in TIPS group was higher than that in liver puncture group(P＜0.05).No significant difference of Child-Pugh grading of liver function nor occurrence of HE was found between groups(both P＞0.05).Conclusion Both TIPS combined with catheter-directed thrombolysis and percutaneous transhepatic portal vein catheterization thrombolysis were effective for treating acute non-cirrhotic non-neoplastic PVT,and the thrombolytic effect of the former was better than the latter.

Objective:To investigate the relationship between mutated genes and clinical features in patients with essential thrombocythemia(ET).Methods:The clinical data of 69 patients with ET from October 2018 to March 2022 were retrospectively analyzed.According to driver mutation type,patients were divided into JAK2 group,CALR group and triple-negative group.The sex,age,cardiovascular risk factors,thrombosis,splenomegaly,routine blood test and coagulation status of patients in three groups were analyzed.Results:Among 69 ET patients,46 cases were associated with JAK2 mutation,14 cases with CALR mutation,8 cases with triple-negative mutation,and one with MPL gene mutation.There were no significant differences in age and sex among the three groups(P＞0.05).The highest thrombotic rate was 26.09％(12/46)in JAK2 group,then 12.5％(1/8)in triple-negative group,while no thrombotic events occurred in CALR group.The incidence of splenomegaly was the highest in JAK2 group(34.78％),while no splenomegaly occurred in triple-negative group.The white blood cell(WBC)count in JAK2 group was(9.00±4.86)× 109/L,which was significantly higher than(6.03±2.32)× 109/L in CALR group(P＜0.05).The hemoglobin(Hb)and hematocrit(HCT)in JAK2 group were(148.42±18.79)g/L and(0.44±0.06)％,respectively,which were both significantly higher than(131.00±15.17)g/L and(0.39±0.05)％in triple-negative group(P＜0.05).The platelet(PLT)in JAK2 group was(584.17±175.77)× 109/L,which was significantly lower than(703.07±225.60)× 109/L in CALR group(P＜0.05).The fibrinogen(Fg)in JAK2 and triple-negative group were(2.64±0.69)g/L and(3.05±0.77)g/L,respectively,which were both significantly higher than(2.24±0.47)g/L in CALR group(P＜0.05,P＜0.01).The activated partial thromboplastin time(APTT)in triple-negative group was(28.61±1.99)s,which was significantly decreased compared with(31.45±3.35)s in CALR group(P＜0.05).Conclusions:There are differences in blood cell count and coagulation status among ET patients with different driver gene mutations.Among ET patients,JAK2 mutation is most common.Compared with CALR group,the thrombotic rate,WBC and Fg significantly increase in JAK2 group,while PLT decrease.Compared with triple-negative group,the incidence of splenomegaly and HCT significantly increase.Compared with CALR group,Fg significantly increases but APTT decreases in triple-negative group.

Objective:To investigate the clinical value of emergent endoscopic intervention at different times of acute esophageal and gastric fundal varices bleeding.Methods:From July 2020 to December 2022, data of 207 cases of liver cirrhosis with esophageal and gastric fundal variceal bleeding diagnosed by gastroscopy were retrospectively analyzed, including 74 cases from the Second Affiliated Hospital, Zhejiang University School of Medicine, 41 cases from Affiliated Jinhua Hospital, Zhejiang University School of Medicine, 36 cases from Lanxi People's Hospital, 31 cases from Yongkang First People's Hospital and 25 cases from Pujiang People's Hospital. Patients were divided into 3 groups according to the time of endoscopic intervention and treatment. Patients who received endoscopic treatment within 6 h of hemorrhage were included in group A ( n=68); patients within 6-24 hours were in group B ( n=72). A total of 67 patients selected for conservative drug treatment were included in group C, who did not undergo endoscopic therapy. The prognosis (success rate of hemostasis, early rebleeding rate, mortality rate) and treatment benefit (open diet time, blood transfusion volume, hospital stay, hospital cost) of the 3 groups were compared. Results:The success rates of hemostasis were 100.00% (68/68), 97.22% (70/72), 86.57% (58/67) in group A, B and C respectively with significant difference ( χ2=13.51, P<0.001). The mortalities of the three groups were 0.00% (0/68) in group A, 2.78% (2/72) in group B and 13.43% (9/67) in in group C respectively with significant difference ( χ2 =15.61, P<0.001). The early rebleeding rates of the three groups were 0.00% (0/68) in group A, 2.86% (2/70) in group B, and 13.43% (5/58) in group C respectively with significant difference ( χ2 =3.41, P=0.182). There were significant differences in open diet time (group A: 28.32 ±2.52 h, group B: 37.25±2.45 h, group C: 66.62±2.65 h, F=58.69, P<0.001), blood transfusion volume (group A: 3.62 ± 0.30 U, group B: 5.46 ± 0.37 U, group C: 6.25 ± 0.39 U, F=11.35, P<0.001), hospital stay (group A: 6.58 ± 0.23 d, group B: 7.83 ± 0.34 d, group C: 8.24 ± 0.45 d, F=5.75, P=0.004) and cost (group A: 10 152±821 yuan, group B: 13 568 ± 1 017 yuan, group C: 15 306 ± 1 186 yuan, F=4.96, P=0.008) among the three groups. There was significant difference in Child-Pugh grading among hemostasis-success patients and those who failed ( χ2 =15.63, P<0.001). Conclusion:Early endoscopic diagnosis and treatment in the early 24 hours of acute esophageal and gastric fundal variceal hemorrhage can improve the prognosis and reduce the economic burden of patients with high clinical application value.

Objective To establish a method for rapid determination of isovelleral,α-amanitin,β-amanitin,γ-amanitin,dihydroxy-phallotoxin and carboxy-dihydroxy-phallotoxin in plasma by ultra performance liquid chromatography-mass spectrometry.Methods Take plasma samples and add acetonitrile solution in a 1:3 ratio.The sample was vortex mixed for 1 min,then centrifugated at 10 000r/min and 4℃ for 3min.The supernatant was injected,while 0.03％ammonia water and acetonitrile were used as mobile phases for ultra high performance liquid phase separation.Multi reaction monitoring was carried out in the positive ion mode of electric spray.Results The separation and detection of isovelleral,α-amanitin,β-amanitin,γ-amanitin,dihydroxy-phallotoxin and carboxyl-dihydroxy-phallotoxin in plasma could be achieved within 4 min by one injection.The linear range of six mushroom toxins in plasma was 40-500μg/L,and the detection limits were 10.0μg/L 10.0μg/L,10.0μg/L,6.0μg/L,6.0μg/L and 6.0μg/L(S/N=3),respectively.The relative standard deviations were 0.60％-1.90％(n=11),and the recovery rates were 90.8％-127.0％.Conclusion This method realizes the rapid and simultaneous determination of 6 kinds of mushroom toxins in plasma,including isovelleral.The operation is simple and the result is accurate,which provides a technical platform for the rapid confirmation of mushroom toxins in poisoned patients.

Since the role of the liver in metabolic dysfunction, including type 2 diabetes mellitus, was demonstrated, studies on non-alcoholic fatty liver disease (NAFLD) and metabolic dysfunction-associated fatty liver disease (MAFLD) have shown associations between fatty liver disease and other metabolic diseases. Unlike the exclusionary diagnostic criteria of NAFLD, MAFLD diagnosis is based on the presence of metabolic dysregulation in fatty liver disease. Renaming NAFLD as MAFLD also introduced simpler diagnostic criteria. In 2023, a new nomenclature, steatotic liver disease (SLD), was proposed. Similar to MAFLD, SLD diagnosis is based on the presence of hepatic steatosis with at least one cardiometabolic dysfunction. SLD is categorized into metabolic dysfunction-associated steatotic liver disease (MASLD), metabolic dysfunction and alcohol-related/-associated liver disease, alcoholrelated liver disease, specific etiology SLD, and cryptogenic SLD. The term MASLD has been adopted by a number of leading national and international societies due to its concise diagnostic criteria, exclusion of other concomitant liver diseases, and lack of stigmatizing terms. This article reviews the diagnostic criteria, clinical relevance, and differences among NAFLD, MAFLD, and MASLD from a diabetologist’s perspective and provides a rationale for adopting SLD/MASLD in the Fatty Liver Research Group of the Korean Diabetes Association.

Purpose: Hemophilia A is a genetic disorder characterized by a lack of factor VIII (FVIII). Emicizumab, a recombinant humanized bispecific monoclonal antibody, mimics the function of FVIII. In this article, we present data on an initial real-world evaluation of emicizumab use in Korean children with severe hemophilia A without inhibitors. Methods: This study was conducted from June 2020 to March 2024 at 4 centers in Korea. The participants were pediatric patients with severe hemophilia A without inhibitors who had received emicizumab treatment for over 6 months. The mean and median annualized bleeding rates (ABRs) and mean and median annual joint bleeding rates (AJBRs) were compared. Results: Each of the 21 patients in the study received an emicizumab loading regimen of 3 mg/kg weekly for 4 weeks, followed by a modified maintenance regimen of which 2 patients (9.5%) received a 1.5 mg/kg weekly dose, 3 patients (14.3%) received a 6 mg/kg dose every 4 weeks, and the remaining 16 patients (76.2%) received a 3 mg/kg dose every 2 weeks. Before emicizumab prophylaxis initiation, the mean and median ABRs for all patients were 7.04 (SD ± 5.83) and 6.52 (range 0–21.74), respectively. After receiving emicizumab treatment, the mean and mediam ABRs decreased to 0.41 and zero, respectively. Additionally, 85.7% of the patients achieved no bleeding events within 6 months of starting the treatment. Conclusion These first real-world data in Korea indicate that emicizumab is effective and safe for pediatric patients with severe hemophilia A without inhibitors.