To report 3 cases of acute generalized exanthematous pustulosis (AGEP) caused by hydroxychloroquine. All the 3 patients were females, aged 23, 30, and 28 years respectively. In cases 1 and 3, the rashes appeared 4 days and 12 days respectively after the treatment with hydroxychloroquine for systemic lupus erythematosus; case 2, who was 8 weeks pregnant, developed rashes 10 days after starting hydroxychloroquine treatment for antiphospholipid syndrome. All the 3 patients had high fever, and clinically presented with generalized round or oval-shaped edematous erythema on the face, neck, trunk and limbs, covered with a large number of pinhead-sized pustules, and with multiple erythema multiforme-like lesions on the trunk and both upper limbs, including targetoid lesions. Mutations in the IL36RN gene were identified in all the 3 patients: a homozygous mutation c.115+6T>C in the IL36RN gene was found in case 1, and her parents were heterozygous carriers; case 2 inherited the heterozygous mutation c.115+6T>C in the IL36RN gene from her mother; the heterozygous mutation c.115+6T>C found in case 3 was a de novo mutation. A diagnosis of AGEP was made in all the 3 cases. Cases 1 and 2 received subcutaneous injections of adalimumab in addition to the treatment of their underlying diseases, and skin lesions markedly regressed after 1 week of treatment; case 3 was treated with high-dose glucocorticoids, and lesions subsided after 4 weeks; no significant adverse reactions were observed in cases 1 and 2, however, femoral head necrosis was noted in case 3. During a follow-up period of 42 months, none of the patients experienced recurrence, and case 2 gave birth to a healthy baby boy after 8-month treatment.

Objective:To report a case of hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis (POIKTMP), and analyze the genotype-phenotype correlation through a literature review.Methods:The clinical manifestations and genetic testing results of a Chinese Han child with POIKTMP were reported. Relevant literature was searched in databases using ′FAM111B gene′, ′hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis′ or ′POIKTMP′ as keywords, and the clinical manifestations, mutation sites of the FAM111B gene, and the correlation between them were statistically analyzed.Results:A 6.5-year-old girl developed POIKTMP at 6 months of age. Dermatological examination showed irregular brown patches and dotted hypopigmentation on the face and neck, mainly on the forehead and around the mouth, telangiectasia on the cheeks and nose, pigmentation and hypopigmentation on the limbs and trunk, as well as sparse, pale eyebrows. A total of 39 cases of POIKTMP were retrieved, including this case, all of which had clinical data and were definitively diagnosed. Fourteen variants of the FAM111B gene had been reported, including 1 in-frame deletion variant and 13 missense variants. Among the 39 cases, the incidence of poikiloderma/photosensitivity/facial erythema/telangiectasia was 100% (39/39), alopecia was 87.2% (34/39), and that of hypohidrosis/heat intolerance was 82.1% (32/39). The incidence of extracutaneous manifestations was as follows: tendon contractures/digital sclerosis, 69.2% (27/39) ; elevated liver transaminases, 46.2% (18/39) ; muscle pain/weakness/amyotrophy, 43.6% (17/39). The incidence of eczema-like lesions, bullous lesions, and elevated liver transaminases was significantly higher in the young versus the adult group ( P < 0.05) . Conclusions:This case of POIKTMP was characterized by brown patches, hypopigmentation, and sparse eyebrows. POIKTMP is a progressive multisystem disorder with age-related clinical manifestations. Early genetic testing is crucial for evaluating potential complications and providing genetic counseling.

Objective To explore CT manifestations of perivascular epithelioid cell tumor(PEComa)of liver and kidney.Methods Totally 18 hepatic PEComa and 5 renal PEComa confirmed by surgical pathology were retrospectively enrolled,and the preoperative CT manifestations were explored.Results Single lesion of liver or kidney was found in all 23 cases,and the main CT manifestations included low or slightly low density lesion(23/23,100％),with irregular morphology(16/23,69.57％),clear boundaries(17/23,73.91％),non-envelope(21/23,91.30％)and enhancement after administration of contrast agents(21/23,91.30％).Among 18 cases of liver PEComa,most lesions(13/18,72.22％)presented as uniform density,while some(5/18,27.88％)presented as non-uniform density lesions often contained with fat components(5/5,100％)and thickened blood vessels(4/5,80.00％)but rare hemorrhagic necrosis(1/5,20.00％)nor calcification(0/5,0).Fast in and fast out of contrast agents were observed in 16(16/18,88.89％)lesions.Uneven density and internal fat components were found in all 5(5/5,100％)renal PEComa,which rarely with hemorrhagic necrosis(1/5,20.00％),blood vessels orientation(1/5,20.00％)and calcification(0/5,0).After enhancement,fast in and fast out,progressive enhancement and non-enhancement was observed in 2(2/5,40.00％),1(1/5,20.00％)and 2(2/5,40.00％)cases,respectively.Conclusion CT manifestations of PEComa in liver and kidney had certain characteristics.

Objective:To investigate the expression of N6-methyladenosine(m6A)reader heterogeneous nuclear ribonucleoprotein A2/B1(hnRNPA2B1)in human gastric cancer(GC)tissue and its effect on the proliferation and invasion of MKN-28 cells.Methods:The Cancer Genome Atlas and Gene Expression Omnibus were used to analyze the expression of hnRNPA2B1 and long noncoding RNA(ln-cRNA)mir-100-let-7a-2-mir-125b-1 cluster host gene(MIR100HG)in GC tissue and their association with the clinical prognosis of patients with GC.Quantitative PCR and Western blotting were used to measure the effect of hnRNPA2B1 on the expression level of MIR100HG and its downstream Wnt/β-catenin signaling pathway;Methylated RNA immunoprecipitation(MeRIP)was used to mea-sure the m6A level of MIR100HG;CCK-8 assay and Transwell assay were used to observe cell proliferation and invasion.Results:Com-pared with paracancerous tissue,human GC tissue showed significant increases in the expression levels of hnRNPA2B1(t=6.101,P<0.001)and MIR100HG(t=2.191,P=0.036 7),and the high expression levels of hnRNPA2B1 and MIR100HG were associated with poor survival in patients with GC.Knockdown of hnRNPA2B1 reduced the mRNA expression level(t=5.156,P=0.007)and m6A level of MIR100HG(t=4.789,P=0.010),inhibited the proliferation and invasion of MKN-28 cells(t=4.915,P=0.008 and t=5.167,P=0.007),and blocked the activity of the Wnt/β-catenin signaling pathway(P<0.05).Overexpression of MIR100HG promoted cell pro-liferation and invasion(t=3.578,P=0.023 and t=8.411,P=0.001),activated the Wnt/β-catenin signaling pathway(P<0.01),and re-versed the antitumor effect induced by hnRNPA2B1 knockdown(t=3.667,P=0.021).Conclusion:This study shows that hnRNPA2B1-mediated m6A modification of MIR100HG promotes the proliferation and invasion of GC MKN-28 cells by activating the Wnt/β-catenin signaling pathway.

To report 3 cases of acute generalized exanthematous pustulosis (AGEP) caused by hydroxychloroquine. All the 3 patients were females, aged 23, 30, and 28 years respectively. In cases 1 and 3, the rashes appeared 4 days and 12 days respectively after the treatment with hydroxychloroquine for systemic lupus erythematosus; case 2, who was 8 weeks pregnant, developed rashes 10 days after starting hydroxychloroquine treatment for antiphospholipid syndrome. All the 3 patients had high fever, and clinically presented with generalized round or oval-shaped edematous erythema on the face, neck, trunk and limbs, covered with a large number of pinhead-sized pustules, and with multiple erythema multiforme-like lesions on the trunk and both upper limbs, including targetoid lesions. Mutations in the IL36RN gene were identified in all the 3 patients: a homozygous mutation c.115+6T>C in the IL36RN gene was found in case 1, and her parents were heterozygous carriers; case 2 inherited the heterozygous mutation c.115+6T>C in the IL36RN gene from her mother; the heterozygous mutation c.115+6T>C found in case 3 was a de novo mutation. A diagnosis of AGEP was made in all the 3 cases. Cases 1 and 2 received subcutaneous injections of adalimumab in addition to the treatment of their underlying diseases, and skin lesions markedly regressed after 1 week of treatment; case 3 was treated with high-dose glucocorticoids, and lesions subsided after 4 weeks; no significant adverse reactions were observed in cases 1 and 2, however, femoral head necrosis was noted in case 3. During a follow-up period of 42 months, none of the patients experienced recurrence, and case 2 gave birth to a healthy baby boy after 8-month treatment.

Objective:To report a case of hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis (POIKTMP), and analyze the genotype-phenotype correlation through a literature review.Methods:The clinical manifestations and genetic testing results of a Chinese Han child with POIKTMP were reported. Relevant literature was searched in databases using ′FAM111B gene′, ′hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis′ or ′POIKTMP′ as keywords, and the clinical manifestations, mutation sites of the FAM111B gene, and the correlation between them were statistically analyzed.Results:A 6.5-year-old girl developed POIKTMP at 6 months of age. Dermatological examination showed irregular brown patches and dotted hypopigmentation on the face and neck, mainly on the forehead and around the mouth, telangiectasia on the cheeks and nose, pigmentation and hypopigmentation on the limbs and trunk, as well as sparse, pale eyebrows. A total of 39 cases of POIKTMP were retrieved, including this case, all of which had clinical data and were definitively diagnosed. Fourteen variants of the FAM111B gene had been reported, including 1 in-frame deletion variant and 13 missense variants. Among the 39 cases, the incidence of poikiloderma/photosensitivity/facial erythema/telangiectasia was 100% (39/39), alopecia was 87.2% (34/39), and that of hypohidrosis/heat intolerance was 82.1% (32/39). The incidence of extracutaneous manifestations was as follows: tendon contractures/digital sclerosis, 69.2% (27/39) ; elevated liver transaminases, 46.2% (18/39) ; muscle pain/weakness/amyotrophy, 43.6% (17/39). The incidence of eczema-like lesions, bullous lesions, and elevated liver transaminases was significantly higher in the young versus the adult group ( P < 0.05) . Conclusions:This case of POIKTMP was characterized by brown patches, hypopigmentation, and sparse eyebrows. POIKTMP is a progressive multisystem disorder with age-related clinical manifestations. Early genetic testing is crucial for evaluating potential complications and providing genetic counseling.

Objective:To investigate the application value of intelligent laboratory construction in the laboratory.Methods:All samples sent to the Department of Clinical Laboratory from all the clinical departments at the Eighth Affiliated Hospital of Sun Yat-Sen University from January 2018 to June 2024 were collected. Full-process intelligentization building was achieved by the use of logistics transmission system, automatic sampling system, automatic quality control system, automatic audit system, intelligent monitoring system, critical value monitoring system, and intelligent DxlabReport operation management system, et al. The normal distribution data were analyzed by two independent samples t-test, and the skew distribution data were analyzed by Mann-Whitney U test. Results:After the implementation of the pneumatic logistics transmission system, the turn-around time (TAT) from sample transmission to receiving decreased significantly from 51.5 (37.7, 73.0) min to 18.1 (14.4, 31.0) min ( U=0, P<0.001). After adopting the automatic sampling system, the TAT from receiving to sampling decreased from 41.0 (38.0, 45.0) min to 10.0 (5.0, 11.0) min ( U=0, P<0.001). The introduction of automatic quality control advanced the median time for the first batch of samples entering the biochemical testing pipeline from 9∶03 to 8∶27 and increased the reporting rate within 3 hours from 27.71%±1.39% to 36.90%±2.30% ( t=3.423, P<0.001). The intelligent monitoring system enabled module positioning monitoring, sample turn-around time reminder, instrument load rate monitoring, remaining reagent monitoring, and patient-based real-time quality control, resulting in improved instrument running efficiency and result accuracy. Followed by the introduction of the automatic audit function, the overall pass rate was 28.19%(10 006/35 500), including 37.17% (7 738/20 818) for biochemical reports, 31.57% (1 251/3 963) for chemiluminescence reports, and 9.49% (1 017/10 719) for biochemical immunity reports. The laboratory TAT decreased from (207.3±6.0) min to (169.8±5.9) min ( t=4.426, P<0.001). After the implementation of the critical value monitoring system, the timely reporting rate reached 99.52% (99.32%, 99.89%). After using quality digital management, outpatient biochemical immunity process was optimized to a decrease in laboratory TAT from 222 (201, 233) min to 145 (119, 195) min ( U=0, P=0.004), while the pass rate increased from 86.88% (85.91%, 87.81%) to 96.32% (95.86%, 96.96%) ( U=0, P=0.004). Conclusion:The establishment of an intelligent laboratory can optimize workflow, significantly improve the work efficiency and accuracy of sample processing, and minimize error.

Objective To observe the clinical and CT findings of hepatic perivascular epithelioid cell tumor(PEComa)compared with liver cancer and liver adenoma.Methods Thirty patients with hepatic PEComa,31 patients with liver cancer and 31 patients with liver adenoma were retrospectively enrolled.Compared with liver cancer and liver adenoma,the clinical and CT findings of hepatic PEComa were observed.Results Significant differences of patients' gender,age and symptoms,also of the proportion of hepatitis,cirrhosis and positive alpha fetoprotein(AFP)were found between hepatic PEComa group and liver cancer group(all P＜0.05),while of patients' gender and age were found between hepatic PEComa group and liver adenoma group(both P＜0.05).Significant differences of the proportion of fat and malformed blood vessels,enhancement mode,as well as contrast enhancement ratio CER of arterial and venous phases were noticed between hepatic PEComa group and liver cancer group(all P＜0.05),while of the proportion of fat,capsule and malformed blood vessels,as well as enhancement mode and CER of arterial and venous phases were noticed between hepatic PEComa group and liver adenoma group(all P＜0.05).Conclusion Compared with liver cancer and liver adenoma,hepatic PEComa was mostly benign and more common in women,with somewhat characteristic CT findings being helpful to differential diagnosis.

The transdiagnostic impact of childhood trauma on mental disorders has attracted increasing attention. Although notable progress has been made, existing studies are limited by methodological constraints and narrow research perspectives. This review summarizes the current evidence on the transdiagnostic associations between childhood trauma and mental disorders, and outlines the potential psychopathological mechanisms underlying these relationships. Furthermore, it provides an outlook on future research directions, aiming to enhance our understanding of how childhood trauma contributes to transdiagnostic manifestations of mental illness.

Objective:To investigate the application value of intelligent laboratory construction in the laboratory.Methods:All samples sent to the Department of Clinical Laboratory from all the clinical departments at the Eighth Affiliated Hospital of Sun Yat-Sen University from January 2018 to June 2024 were collected. Full-process intelligentization building was achieved by the use of logistics transmission system, automatic sampling system, automatic quality control system, automatic audit system, intelligent monitoring system, critical value monitoring system, and intelligent DxlabReport operation management system, et al. The normal distribution data were analyzed by two independent samples t-test, and the skew distribution data were analyzed by Mann-Whitney U test. Results:After the implementation of the pneumatic logistics transmission system, the turn-around time (TAT) from sample transmission to receiving decreased significantly from 51.5 (37.7, 73.0) min to 18.1 (14.4, 31.0) min ( U=0, P<0.001). After adopting the automatic sampling system, the TAT from receiving to sampling decreased from 41.0 (38.0, 45.0) min to 10.0 (5.0, 11.0) min ( U=0, P<0.001). The introduction of automatic quality control advanced the median time for the first batch of samples entering the biochemical testing pipeline from 9∶03 to 8∶27 and increased the reporting rate within 3 hours from 27.71%±1.39% to 36.90%±2.30% ( t=3.423, P<0.001). The intelligent monitoring system enabled module positioning monitoring, sample turn-around time reminder, instrument load rate monitoring, remaining reagent monitoring, and patient-based real-time quality control, resulting in improved instrument running efficiency and result accuracy. Followed by the introduction of the automatic audit function, the overall pass rate was 28.19%(10 006/35 500), including 37.17% (7 738/20 818) for biochemical reports, 31.57% (1 251/3 963) for chemiluminescence reports, and 9.49% (1 017/10 719) for biochemical immunity reports. The laboratory TAT decreased from (207.3±6.0) min to (169.8±5.9) min ( t=4.426, P<0.001). After the implementation of the critical value monitoring system, the timely reporting rate reached 99.52% (99.32%, 99.89%). After using quality digital management, outpatient biochemical immunity process was optimized to a decrease in laboratory TAT from 222 (201, 233) min to 145 (119, 195) min ( U=0, P=0.004), while the pass rate increased from 86.88% (85.91%, 87.81%) to 96.32% (95.86%, 96.96%) ( U=0, P=0.004). Conclusion:The establishment of an intelligent laboratory can optimize workflow, significantly improve the work efficiency and accuracy of sample processing, and minimize error.