Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a rare autosomal dominant genetic disorder. It may also involve many other organ systems, leading to complications such as exocrine pancreatic insufficiency, liver dysfunction, lymphedema, and developmental delay. The FAM111B has been determined as the pathogenic gene associated with POIKTMP syndrome, whose protein product plays a critical role in regulating essential cellular processes including DNA repair and replication, cell cycle progression, apoptosis, nuclear transport, and telomere length maintenance. This article has provided a comprehensive review for the genetic basis of POIKTMP syndrome and its correlation with various phenotypes, which may offer insights for basic research and clinical diagnosis of this disease.
Humans ; Pulmonary Fibrosis/genetics* ; Skin Diseases, Genetic/genetics*

Aim To investigate the effect of Rtv(a P-gp inhibitor and inducer)on the pharmacokinetics of Y101(P-gp substrate)via P-gp.Methods In short-term studies,rats received a single dose of Rtv,where-as in long-term studies they received continuous dosing for seven days.Following this treatment,Y101 was o-rally administered to analyze its blood concentration in rats.Subsequently,the mechanism by which Rtv af-fected Y101 pharmacokinetics was investigated through the everted gut sac model(in vitro),cellular uptake studies,and so on.Results Short-term administra-tion of Rtv significantly increased Y101's AUC,liver-to-plasma partition coefficient,the everted gut sac model(in vitro),and cellular accumulation.Although long-term Rtv treatment had no effect on Y101 pharma-cokinetics or hepatic distribution,it markedly reduced Y101 cellular accumulation in Caco-2 cells,concomi-tant with an upregulation of P-gp expression.Conclu-sions Short-term Rtv administration acts as a compet-itive P-gp inhibitor,enhancing Y101 intestinal absorp-tion and hepatic distribution.In contrast,the plasma pharmacokinetics and hepatic distribution of Y101 are not altered after long-term administration of Rtv,po-tentially attributable to Rtv's dual modulatory effects on P-gp involving both induction and inhibition.Hence,the potential Rtv and Y101 interaction should be close-ly monitored in the clinic.

AIM To investigate the effects of Rutong Ruanjian Tablets on angiogenesis in cancer tissues of rats with preneoplastic breast cancer(PBC).METHODS 60 female SD rats were randomly divided into a blank group of 10 rats and a model group of 50 rats for the establishment of the PBC models of Liver-Qi Stagnation and Blood Stasis Pattern with 9 weeks of oral administration of 7,12-dimethylbenz[a]anthracene(DMBA)and cervical ligation.After successful modeling,the rats were randomly divided into the model group,the tamoxifen group(3.2 mg/kg),the Rutong Ruanjian Tablets group(128 mg/kg),the 3,5-difluorobenzoyl group(DAPT,5 mg/kg),and the Rutong Ruanjian Tablets(128 mg/kg via gavage)+DAPT(5 mg/kg intraperitoneal injection)group,for 1 month corresponding drug administration,with 10 rats in each group.Then the rats had their cancer progression and syndrome scores observed;their angiogenesis evaluated by assessment of microvascular density(MVD);their vascular endothelial growth factor(VEGF)expression assessed by immunohistochemistry;and their mRNA and protein expressions of proteins related to the DLL4/Notch1/Hes1 pathway measured using RT-qPCR,immunohistochemistry and Western blot.RESULTS During carcinogenesis of rats induced by DMBA,there was gradual disappearance of E-cadherin expression and consistency of HE staining result with the PBC progression confirming the success of the modeling.Compared with the blank group,the model group showed increased MVD values,mRNA expression of Notch1 and Hes1,and protein expressions of VEGF,DLL4,Notch1 and Hes1(P＜0.05,P＜0.01).Compared with the model group,the Rutong Ruanjian Tablets group exhibited reduced MVD values,mRNA expression of Notch1 and Hes1,and protein expressions of VEGF,DLL4,Notch1 and Hes1(P＜0.05,P＜0.01).The Rutong Ruanjian Tablets+DAPT group showed reduced mRNA expression of Notch1 and Hes1,and protein expressions of DLL4,Notch1 and Hes1 compared to the Rutong Ruanjian Tablets group(P＜0.05,P＜0.01).CONCLUSION Rutong Ruanjian Tablets can inhibit angiogenesis and attenuate cancer progression in PBC rats of Liver-Qi Stagnation and Blood Stasis Pattern,and the mechanism may lie in the downregulation of DLL4/Notch1/Hes1 signaling pathway related proteins.

Objective To analyze the research status,hot directions and frontier trends of traditional Chinese medicine in the prevention and treatment of diseases by regulating Notch signaling pathway based on bibliometrics.Methods Based on Citespace and Vosviewer,the literature on the regulation of Notch signaling pathway by traditional Chinese medicine in CNKI and WoSCC was visually analyzed.Results 362 and 85 related literatures were published in Chinese and English respectively until January 2024.Since 2013,the number of literatures published in this field has shown a fluctuating increasing trend.China is the country with the most publications;Hunan University of Chinese Medicine were the institutions with the most publications in the Chinese database,and Beijing University of Chinese Medicine was the institution with the most publications in the English literature database.Combined with the research direction of each research team and keyword clustering and burst analysis,the research hotspots of traditional Chinese medicine regulating Notch signaling pathway are focused on cerebral ischemia,myelosuppression and hepatic fibrosis.Diseases such as Asthma,colorectal cancer have become emerging research directions in recent years.Electroacupuncture therapy to promote stem cell proliferation and treat neurological diseases is one of the frontier research trends in this field.Conclusion Recent years have seen a rapid development of traditional Chinese medicine's disease prevention and treatment that targets Notch signaling pathway.Various expert teams have obtained rich research results,and the research hotspots show a diversified trend.In-depth exploration of this can provide strong evidence for the molecular mechanism of traditional Chinese medicine in the treatment of various diseases.

Objective To analyze the research status,hot directions and frontier trends of traditional Chinese medicine in the prevention and treatment of diseases by regulating Notch signaling pathway based on bibliometrics.Methods Based on Citespace and Vosviewer,the literature on the regulation of Notch signaling pathway by traditional Chinese medicine in CNKI and WoSCC was visually analyzed.Results 362 and 85 related literatures were published in Chinese and English respectively until January 2024.Since 2013,the number of literatures published in this field has shown a fluctuating increasing trend.China is the country with the most publications;Hunan University of Chinese Medicine were the institutions with the most publications in the Chinese database,and Beijing University of Chinese Medicine was the institution with the most publications in the English literature database.Combined with the research direction of each research team and keyword clustering and burst analysis,the research hotspots of traditional Chinese medicine regulating Notch signaling pathway are focused on cerebral ischemia,myelosuppression and hepatic fibrosis.Diseases such as Asthma,colorectal cancer have become emerging research directions in recent years.Electroacupuncture therapy to promote stem cell proliferation and treat neurological diseases is one of the frontier research trends in this field.Conclusion Recent years have seen a rapid development of traditional Chinese medicine's disease prevention and treatment that targets Notch signaling pathway.Various expert teams have obtained rich research results,and the research hotspots show a diversified trend.In-depth exploration of this can provide strong evidence for the molecular mechanism of traditional Chinese medicine in the treatment of various diseases.

Aim To explore the mechanism of action of Guizhi Jia Gegen decoction(GGD)in treating pneu-monia-enteritis induced by H1N1 influenza virus infec-tion in a mouse model,using network pharmacology and molecular docking techniques,followed by in vivo verification.Methods A pneumonia-enteritis mouse model was established,and the intervention effects of GGD on the model mice were evaluated using indica-tors such as body weight,rectal temperature,lung in-dex,colon length,H1N1 M gene expression,relative mRNA expression levels of inflammatory cytokines,and pathological sections of the lung and intestine.The targets of the blood-absorbed components of GGD were identified using the Swiss Target Prediction platform,and the disease targets were retrieved from the Gene-Cards platform.The intersecting targets were analyzed through PPI network analysis using the STRING data-base to identify core targets.GO analysis and KEGG pathway enrichment analysis were performed using the Metascape database.RT-qPCR was employed to vali-date the core targets and pathways.Molecular docking was conducted using AutoDock Tools software to verify the interactions between blood-absorbed components and key targets.Results GGD demonstrated signifi-cant therapeutic effects on the pneumonia-enteritis mouse model.The results of network pharmacology in-dicated that the therapeutic effects of GGD were strong-ly associated with targets such as TNF,ALB,PTGS2,MMP9,EGFR,ESR1,SRC,HSP90AA1,PPARG and MMP2.RT-qPCR results indicated that GGD could intervene in pneumonia-enteritis by regulating the targets TNF,ALB,EGFR and the related targets of the NF-κB pathway.Molecular docking results re-vealed that blood-absorbed components such as puerar-in and liquiritin could stably bind to TNF,ALB and EGFR.Conclusion Components such as puerarin and liquiritin in GGD may exert therapeutic effects on pneumonia-enteritis induced by H1N1 influenza virus infection by acting on targets such as TNF,ALB and EGFR.

The basic structure and working principle of the fluorine multifunctional module were described in brief.Six cases of common faults of the fluorine multifunctional module during automatic synthesis of 18F-PSMA were introduced in terms of the cause and maintenance.References were provided for treating similar faults.[Chinese Medical Equipment Journal,2025,46(2):112-116]

Objective:To observe the efficacy of plasma beam combined with intense pulsed light on facial burn scars and its impact on scar score and pain level.Method:This study was a prospective study,and a random number table method was used to divided 92 patients with facial burn scars who were admitted to Maoming People's Hospital from March 2024 to August 2024 into control group(received intense pulsed light treatment,46 cases)and study group(received plasma beam treatment in addition to the control group,46 cases).The efficacy,related scale scores,scar recovery and incidence of adverse reaction rates between two groups were compaerd.Result:Compared with control group after treatment,the clinical total effective rate and the chinese version of the simplified burn health scale(BSHS-B)score of the study group were higher,while vancouver scar scale(VSS),visual analogue scale(VAS)scores,scar thickness,and scar blood flow perfusion were lower(P＜0.05).There was no significant difference in the incidence of adverse reaction rates between the two groups(P＞0.05).Conclusion:Plasma beam combined with intense pulsed light on facial burn scars,can improve clinical efficacy,improve scar thickness and blood flow perfusion,alleviate scar itching and pain,and has good safety in treating facial burn scar patients.

Objective:To observe the efficacy of plasma beam combined with intense pulsed light on facial burn scars and its impact on scar score and pain level.Method:This study was a prospective study,and a random number table method was used to divided 92 patients with facial burn scars who were admitted to Maoming People's Hospital from March 2024 to August 2024 into control group(received intense pulsed light treatment,46 cases)and study group(received plasma beam treatment in addition to the control group,46 cases).The efficacy,related scale scores,scar recovery and incidence of adverse reaction rates between two groups were compaerd.Result:Compared with control group after treatment,the clinical total effective rate and the chinese version of the simplified burn health scale(BSHS-B)score of the study group were higher,while vancouver scar scale(VSS),visual analogue scale(VAS)scores,scar thickness,and scar blood flow perfusion were lower(P＜0.05).There was no significant difference in the incidence of adverse reaction rates between the two groups(P＞0.05).Conclusion:Plasma beam combined with intense pulsed light on facial burn scars,can improve clinical efficacy,improve scar thickness and blood flow perfusion,alleviate scar itching and pain,and has good safety in treating facial burn scar patients.

Objective:This article aims to investigate the effect of optimized prehospital emergency intervention com-bined with green channel on prehospital delay and prognosis of patients with acute cor pulmonale(ACP).Methods:This randomized controlled study enrolled 116 ACP patients admitted in Hai'an People's Hospital between January 2021 and January 2023.They were divided into control group(n=58,routine emergency nursing procedure)and in-tervention group(n=58,optimized prehospital emergency intervention combined with green channel program).After 1-month intervention,therapeutic effect,emergency indicators,cardiopulmonary function,quality of life and incidence of complications were compared between two groups.Results:After 1-month,total effective rate of intervention group was significantly higher than that of control group(84.48％vs.62.07％,P=0.006).Com-pared with patients in control group,those in intervention group had significant lower emergency stay time[(19.80±1.90)min vs.(27.92±1.62)min],triage assessment time[(2.01±0.18)min vs.(2.99±0.17)min]and transport time[(33.69±1.90)min vs.(35.91±1.74)min],and significant higher left ventricular ejection frac-tion(LVEF)[(59.85±1.36)％vs.(46.97±1.79)％],forced expiratory volume in one second(FEV1)[(3.66±0.17)L vs.(3.00±0.17)L],scores of nursing quality and each domain of Quality of Life Instruments for Chro-nic Diseases-Chronic Pulmonary Heart Disease(QLICD-CPHD)(P＜0.001 all).Incidence of complications in intervention group was significantly lower than that of control group(5.17％vs.17.24％,P=0.039).Conclusion:Optimized prehospital emergency intervention combined with green channel has significant clinical effect on ACP patients.It could reduce emergency,triage and transport time,improve nursing quality and quality of life,enhance cardiopulmonary function,and reduce the incidence of complications.