BACKGROUND: Metabolic-associated fatty liver disease (MAFLD) is a common liver disease and may become the leading cause of severe liver disease in the future. The Global Burden of Disease (GBD) study assesses MAFLD's impact in countries and regions worldwide, providing insights into its prevalence. METHODS: Prevalence data for MAFLD from 1990 to 2021 by country and region in all sex and age groups were collected from the Global Health Data Exchange. The categorization of countries and geographic areas by development was performed using the Sociodemographic Index (SDI). RESULTS: Between 1990 and 2021, the global crude prevalence rate of MAFLD increased from 10.6% to 16.1% (beta-coefficient: 0.2%, 95% confidence interval [CI]: 0.2-0.2%, P  <0.001), and the age-standardized prevalence rate was increased from 12.1% to 15.0% (beta-coefficient: 0.1%, 95% CI: 0.1-0.1%, P  <0.001). In 2021, MAFLD was estimated to have affected 1.3 billion people worldwide. Significant uptrends were observed in all regions, super regions, and SDI categories. The fastest increase from 1990 to 2021 and the highest prevalence rate in 2021 were experienced by countries and territories with high-middle and middle SDI. An increase in the prevalence of MAFLD from 1990 to 2021 was demonstrated in all but six countries. CONCLUSIONS In 2021, the number of patients affected by MAFLD was doubled compared to 1990, and the prevalence rate increased by over 50%. The burden of MAFLD, as measured by prevalence, was more prominent in countries and territories with middle SDI and in those located in North African and Middle Eastern, possibly due to changes in lifestyle in these areas over the past 30 years.
Humans ; Global Burden of Disease ; Prevalence ; Male ; Female ; Middle Aged ; Adult ; Global Health ; Fatty Liver/epidemiology* ; Aged

Objective To analyze the clinical characteristics associated with prenatal diagnosis of FBN 1 gene mutations in a family.This study explores the correlation between gene mutations and their corresponding clini-cal phenotypes,emphasizing the significance of prenatal diagnosis in providing a foundation for subsequent follow-up and intervention.Methods Genomic DNA was extracted from the amniotic fluid of the fetus and the peripheral blood of the parents for trio-whole exome sequencing.The candidate variant identified was subsequently validated using Sanger sequencing.Results The pedigree comprised four generations and nine family members,with four individuals exhibiting slender limbs and toes.Among these,three showed congenital lens dislocation or subluxation.No abnormalities in the cardiovascular system were observed.Genetic testing of symptomatic individuals revealed a heterozygous mutation(c.6158G>T)in the FBN 1 gene.Conclusions The FBN 1 c.6158G>T(p.C2053F)muta-tion was identified as the pathogenic variant responsible for the condition in this family,exhibiting autosomal domi-nant inheritance.To our knowledge,this is the first reported case of the FBN 1 c.6158G>T(p.C2053F)mutation in China.Prenatal diagnosis can facilitate early confirmation of the condition and provide a foundation for subsequent in-terventions and follow-up care.

Objective To analyze the clinical characteristics associated with prenatal diagnosis of FBN 1 gene mutations in a family.This study explores the correlation between gene mutations and their corresponding clini-cal phenotypes,emphasizing the significance of prenatal diagnosis in providing a foundation for subsequent follow-up and intervention.Methods Genomic DNA was extracted from the amniotic fluid of the fetus and the peripheral blood of the parents for trio-whole exome sequencing.The candidate variant identified was subsequently validated using Sanger sequencing.Results The pedigree comprised four generations and nine family members,with four individuals exhibiting slender limbs and toes.Among these,three showed congenital lens dislocation or subluxation.No abnormalities in the cardiovascular system were observed.Genetic testing of symptomatic individuals revealed a heterozygous mutation(c.6158G>T)in the FBN 1 gene.Conclusions The FBN 1 c.6158G>T(p.C2053F)muta-tion was identified as the pathogenic variant responsible for the condition in this family,exhibiting autosomal domi-nant inheritance.To our knowledge,this is the first reported case of the FBN 1 c.6158G>T(p.C2053F)mutation in China.Prenatal diagnosis can facilitate early confirmation of the condition and provide a foundation for subsequent in-terventions and follow-up care.

Objective:To summarize the clinical manifestations and diagnosis, treatment experience of vertically transmitted eschar-free scrub typhus in newborns.Methods:A case summary was made.The clinical data of 3 newborns clinically diagnosed as vertically transmitted eschar-free scrub typhus and treated at the Department of Neonatology, the Sixth Affiliated Hospital, Sun Yat-sen University Yuexi Hospital/Xinyi People′s Hospital from August 2022 to July 2024 were retrospectively analyzed.Results:The age of onset of scrub typhus in the 3 newborns was within 24 h after birth.The children presented a fever, the clinical manifestations of early onset sepsis, and also multiple organ damage.Laboratory examination showed that all the 3 children have an abnormal elevation in C-reactive protein, a decrease of blood platelet (PLT) and an increase in D-dimer within 24 h after birth.The diagnosis was confirmed in all the patients via the metagenomic sequencing technology of pathogenic microorganism of blood samples.Two of the 3 children presented hepatomegaly and were treated with Azithromycin.All the children were clinically cured finally.Conclusions:The early clinical manifestation of vertically transmitted eschar-free scrub typhus in newborns is early onset sepsis and easily combined with multi-organ dysfunction, PLT reduction, and D-dimer elevation.Pathogenic microorganism metagenomic sequencing technology is conductive to the diagnosis of the disease, and Azithromycin is effective.

Objective:To summarize the clinical manifestations and diagnosis, treatment experience of vertically transmitted eschar-free scrub typhus in newborns.Methods:A case summary was made.The clinical data of 3 newborns clinically diagnosed as vertically transmitted eschar-free scrub typhus and treated at the Department of Neonatology, the Sixth Affiliated Hospital, Sun Yat-sen University Yuexi Hospital/Xinyi People′s Hospital from August 2022 to July 2024 were retrospectively analyzed.Results:The age of onset of scrub typhus in the 3 newborns was within 24 h after birth.The children presented a fever, the clinical manifestations of early onset sepsis, and also multiple organ damage.Laboratory examination showed that all the 3 children have an abnormal elevation in C-reactive protein, a decrease of blood platelet (PLT) and an increase in D-dimer within 24 h after birth.The diagnosis was confirmed in all the patients via the metagenomic sequencing technology of pathogenic microorganism of blood samples.Two of the 3 children presented hepatomegaly and were treated with Azithromycin.All the children were clinically cured finally.Conclusions:The early clinical manifestation of vertically transmitted eschar-free scrub typhus in newborns is early onset sepsis and easily combined with multi-organ dysfunction, PLT reduction, and D-dimer elevation.Pathogenic microorganism metagenomic sequencing technology is conductive to the diagnosis of the disease, and Azithromycin is effective.

Objective To explore the clinical characteristics and genetic mechanisms of patients with Mucolipidosis Ⅲα/β caused by GNPTAB gene mutations.Methods A retrospective analysis was conducted on the clinical data and genetic tests of a confirmed case of Mucolipidosis Ⅲα/β.Various protein prediction tools were used to generate protein models of the wild type and mutant GNPTAB proteins,and computational biology tools were employed to elucidate the differences in protein structure and function between the wild type and mutant variants.Results The patient in this case mainly presented with joint deformities and short stature.Genetic sequencing revealed compound heterozygous mutations in the GNPTAB gene,c.2715+1G＞A and c.1582T＞C;the missense mutation c.1582T＞C has not been reported in the literature.By constructing and analyzing three-dimensional models of the mutants,it was found that the c.2715+1G＞A mutation alters the overall structure of the protein,leading to the loss of protein function,while the c.1582T＞C mutation affects the interaction between the subunit of N-acetylglucosamine-1-phosphate transferase and its ligand.Conclusions This case of MLⅢα/β results from a mutation in the GNPTAB gene,including a missense mutation c.1582T＞C that has not been previ-ously reported,which expands the spectrum of pathogenic mutations of this gene.Through computational analysis of the protein variants resulting from the GNPTAB gene mutation,the understanding of their structure-function relationship has been elaborated,revealing the molecular mechanisms behind the onset of ML Ⅲα/β disease.

Objective:To explore the changes of iron metabolism in patients with hepatitis B cirrhosis and esophageal and gastric varices complicated with portal vein thrombosis.Methods:This study was a cross-sectional study. 253 patients with hepatitis B cirrhosis with esophageal and gastric varices who were hospitalized in the Zhongshan Hospital, Fudan University from January 1, 2020 to December 31, 2021 were included in this study. They were divided into portal vein thrombosis group ( n=57) and non portal vein thrombosis group ( n=196) according to the presence or absence of portal vein thrombosis. The iron metabolism characteristics of the two groups were compared, and subgroups were analyzed according to the presence or absence of ascites, platelet count level, D-dimer level, and Child grade. The factors related to portal vein thrombosis were screened through multivariate logistic regression analysis. Results:The ratio of Child pugh B/C, ascites, D-dimer and platelet count in patients with hepatitis B cirrhosis and esophageal and gastric varices complicated with portal vein thrombosis was higher (all P<0.05). Patients with portal vein thrombosis had higher levels of soluble transferrin receptor [2.4(1.8, 3.6)mg/L vs 1.8(1.3, 2.7)mg/L, P=0.006], and lower levels of ferritin [33.1(18.9, 63.3)ng/ml vs 57.7(19.4, 142.5)ng/ml, P=0.038]. Layered analysis showed that ascites, platelet count levels, D-dimer levels, and Child-pugh grade did not affect the negative correlation trend between ferritin and portal vein thrombosis, and the positive correlation trend between soluble transferrin receptors and portal vein thrombosis. Moreover, soluble transferrin receptors showed a statistically significant positive correlation with portal vein thrombosis in the absence of ascites, low D-dimer levels, and Child-pugh grade A. Multivariate analysis suggested that after weighing Child-pugh grading, platelet count, and D-dimer levels, ferritin ( OR=0.943, 95% CI: 0.904-0.983, P=0.006) and soluble transferrin receptor ( OR=1.034, 95% CI: 0.001-1.067, P=0.044) were independently associated with portal vein thrombosis. Conclusions:In patients with hepatitis B cirrhosis with esophageal and gastric varices, the characteristics of iron metabolism in patients with portal vein thrombosis are different from those in patients without thrombosis, with higher levels of soluble transferrin receptor and lower levels of ferritin.

OBJECTIVE To systematically summarize the working model of pharmacy consultation in medical institutions in China， and to provide reference for the normalization of process， standardization of content and homogenization of services of pharmacy consultation. METHODS A systematic search of Chinese and English literature databases was conducted to incorporate the literature on the working model of pharmacy consultation published by medical institutions in China. Two researchers screened and extracted the key information， and ultimately conducted qualitative summary and descriptive analysis. RESULTS Based on the included 11 articles， the pharmacy consultation working models were explored by clinical pharmacists in China. The contents of consultation mainly involved anti-infection， parenteral nutrition， cancer pain， etc. The general concept of pharmacy consultation should refer to the constructed flowchart， specific consultation problems could refer to the pathway， mind map， or decision tree and other framework guidance to carry out the work. Finally， consultation opinions could be written according to the consultation system or specialty consultation templates， and the adoption of a new working model （such as pharmacist active consultation） could also promote the number and acceptance rate of pharmacy consultation. CONCLUSIONS A series of working models of pharmacy consultation have been initially explored in medical institutions in China. However， it is not yet perfect and lacks a unified quality control and evaluation system for pharmacy consultation， which should be the focus of future research and practice.

Objective To explore the effects of anticoagulation treatment to postoperative bleeding events in liver cirrhosis patients with gastric varices and portal vein thrombosis.Methods Patients diagnosed with portal vein thrombosis and treated with endoscopic cyanoacrylate injection at Zhongshan Hospital,Fudan University due to gastric variceal bleeding from January 2023 to December 2023 were included.Clinical data of patients were collected,and patients were divided into anticoagulant group and non-anticoagulant group based on whether anticoagulant treatment was performed within 48 h after treatment.Re-bleeding in patients was evaluated in 6 weeks of follow-up.Cox regression was used for univariate and multivariate analysis of re-bleeding within 6 weeks after treatment.Results A total of 160 patients were included,of whom 65 patients received anticoagulation treatment within 48 h after endoscopic cyanoacrylate injection.There were no statistically significant differences in gender,etiology of liver cirrhosis,dosage of cyanoacrylate and sclerosing agents,and Child-Pugh grading between the two groups.There was no statistically significant difference in re-bleeding rate within 6 weeks after treatment between the two groups(1.54％vs 1.05％,P=0.795).Multivariate Cox regression analysis showed that the large amount of cyanoacrylate was a risk factor for re-bleeding within 6 weeks after endoscopic treatment(HR=5.862,P=0.015).Conclusions For patients with liver cirrhosis,gastric varices,and portal vein thrombosis,who receive endoscopic cyanoacrylate injection,early anticoagulation does not increase the risk of re-bleeding after treatment,while a large amount of cyanoacrylate injection may be a risk factor for re-bleeding.However,sample should be increased to verify.

Objective To explore the clinical characteristics and genetic mechanisms of patients with Mucolipidosis Ⅲα/β caused by GNPTAB gene mutations.Methods A retrospective analysis was conducted on the clinical data and genetic tests of a confirmed case of Mucolipidosis Ⅲα/β.Various protein prediction tools were used to generate protein models of the wild type and mutant GNPTAB proteins,and computational biology tools were employed to elucidate the differences in protein structure and function between the wild type and mutant variants.Results The patient in this case mainly presented with joint deformities and short stature.Genetic sequencing revealed compound heterozygous mutations in the GNPTAB gene,c.2715+1G＞A and c.1582T＞C;the missense mutation c.1582T＞C has not been reported in the literature.By constructing and analyzing three-dimensional models of the mutants,it was found that the c.2715+1G＞A mutation alters the overall structure of the protein,leading to the loss of protein function,while the c.1582T＞C mutation affects the interaction between the subunit of N-acetylglucosamine-1-phosphate transferase and its ligand.Conclusions This case of MLⅢα/β results from a mutation in the GNPTAB gene,including a missense mutation c.1582T＞C that has not been previ-ously reported,which expands the spectrum of pathogenic mutations of this gene.Through computational analysis of the protein variants resulting from the GNPTAB gene mutation,the understanding of their structure-function relationship has been elaborated,revealing the molecular mechanisms behind the onset of ML Ⅲα/β disease.