The patient is a 60 year old male who has been experiencing thrombocytosis for over 2 years. He was treated outside the hospital in August 2023 due to acute myocardial infarction. After he left the hospital, there was still dizziness and persistent elevation of hemoglobin and platelets during follow-up. In November 2023, the patient went to Zhongshan Hospital affiliated with Fudan University for treatment. After admission, elevated platelets and hemoglobin were found, and genetic testing showed positive mutations in JAK2-V617F and CALR gene L367fs * 46, diagnosed as chronic myeloproliferative neoplasms (polycythemia vera and primary thrombocythemia). Discharge order was 0.1 g of hydroxyurea once a day. Follow up after six months showed improvement in hemoglobin and platelets compared with that at admission. This case suggests that classic driver gene mutation testing of myeloproliferative neoplasm is an important indicator for disease diagnosis for patients with thrombocytosis and hemoglobin increase.

The patient is a 60 year old male who has been experiencing thrombocytosis for over 2 years. He was treated outside the hospital in August 2023 due to acute myocardial infarction. After he left the hospital, there was still dizziness and persistent elevation of hemoglobin and platelets during follow-up. In November 2023, the patient went to Zhongshan Hospital affiliated with Fudan University for treatment. After admission, elevated platelets and hemoglobin were found, and genetic testing showed positive mutations in JAK2-V617F and CALR gene L367fs * 46, diagnosed as chronic myeloproliferative neoplasms (polycythemia vera and primary thrombocythemia). Discharge order was 0.1 g of hydroxyurea once a day. Follow up after six months showed improvement in hemoglobin and platelets compared with that at admission. This case suggests that classic driver gene mutation testing of myeloproliferative neoplasm is an important indicator for disease diagnosis for patients with thrombocytosis and hemoglobin increase.

Objective To explore the core genes related to the diagnosis and prognosis of gastric cancer(GC)based on Gene Expression Omnibus(GEO)database and screen the molecular targets involved in the occurrence and development of GC.Methods GC microarray data GSE118916,GSE54129 and GSE79973 were downloaded from GEO database,and the differentially expressed genes(DEGs)were screened.Enrichment analysis of the signaling pathways and molecular functions were preformed and protein-protein interaction networks(PPI)were constructed to identify the hub genes,whose expression levels and diagnostic and prognostic values were verifies based on gastric adenocarcinoma data from TCGA.The expression levels of these core genes were also detected in different GC cell lines using qRT-PCR.Results Seventy-seven DEGs were identified,which encodes proteins located mainly in the extracellular matrix and basement membrane with activities of oxidoreductase and extracellular matrix receptor and ligand,involving the biological processes of digestion and hormone metabolism and the signaling pathways in retinol metabolism and gastric acid secretion.Nine hub genes were obtained,among which SPARC,TIMP1,THBS2,COL6A3 and THY1 were significantly up-regulated and TFF1,GKN1,TFF2 and PGC were significantly down-regulated in GC.The abnormal expressions of SPARC,TIMP1,THBS2,COL6A3,TFF2 and THY1 were significantly correlated with the survival time of GC patients.ROC curve analysis showed that aberrant expression of TIMP1,SPARC,THY1 and THBS2 had high diagnostic value for GC.High expressions of SPARC,TIMP1,THBS2 and COL6A3 were detected in GC tissues.In the GC cell lines,qRT-PCR revealed different expression patterns of these hub genes,but their expressions were largely consistent with those found in bioinformatics analyses.Conclusion SPARC,TIMP1,THBS2 and other DEGs are probably involved in GC occurrence and progression and may serve as potential candidate molecular markers for early diagnosis and prognostic evaluation of GC.

Objective To explore the core genes related to the diagnosis and prognosis of gastric cancer(GC)based on Gene Expression Omnibus(GEO)database and screen the molecular targets involved in the occurrence and development of GC.Methods GC microarray data GSE118916,GSE54129 and GSE79973 were downloaded from GEO database,and the differentially expressed genes(DEGs)were screened.Enrichment analysis of the signaling pathways and molecular functions were preformed and protein-protein interaction networks(PPI)were constructed to identify the hub genes,whose expression levels and diagnostic and prognostic values were verifies based on gastric adenocarcinoma data from TCGA.The expression levels of these core genes were also detected in different GC cell lines using qRT-PCR.Results Seventy-seven DEGs were identified,which encodes proteins located mainly in the extracellular matrix and basement membrane with activities of oxidoreductase and extracellular matrix receptor and ligand,involving the biological processes of digestion and hormone metabolism and the signaling pathways in retinol metabolism and gastric acid secretion.Nine hub genes were obtained,among which SPARC,TIMP1,THBS2,COL6A3 and THY1 were significantly up-regulated and TFF1,GKN1,TFF2 and PGC were significantly down-regulated in GC.The abnormal expressions of SPARC,TIMP1,THBS2,COL6A3,TFF2 and THY1 were significantly correlated with the survival time of GC patients.ROC curve analysis showed that aberrant expression of TIMP1,SPARC,THY1 and THBS2 had high diagnostic value for GC.High expressions of SPARC,TIMP1,THBS2 and COL6A3 were detected in GC tissues.In the GC cell lines,qRT-PCR revealed different expression patterns of these hub genes,but their expressions were largely consistent with those found in bioinformatics analyses.Conclusion SPARC,TIMP1,THBS2 and other DEGs are probably involved in GC occurrence and progression and may serve as potential candidate molecular markers for early diagnosis and prognostic evaluation of GC.

Multimorbidity is significantly associated with life quality decline, disability, and increased mortality risk. Additionally, it leads to greater consumption of healthcare resources, presenting substantial challenges to healthcare systems globally. To better assess the burden of multimorbidity, its impact on patient health outcomes and healthcare services, and to explore the underlying mechanisms in its development, this paper summarizes the existing methods used for measuring and analyzing multimorbidity in research and practice, including disease count, disease-weighted indices, multimorbidity pattern recognition (such as disease association analysis, clustering analysis, and network analysis) and longitudinal methods to provide references for the accurate assessment of the prevalence of multimorbidity and its changes and improve the validity and universality of research findings.

Objective:To investigate the role of lateral spread response (LSR) of the facial nerves in distinguishing primary hemifacial spasm (HFS), HFS caused by facial palsy and Meige syndrome, and explore the relationship between LSR presence or absence before microvascular decompression (MVD) and MVD efficacy in patients with primary HFS.Methods:A retrospective analysis was performed; 127 patients with HFS, including primary HFS ( n=86), HFS caused by facial palsy ( n=27) and Meige syndrome ( n=14), were enrolled in Department of Neurology, Zhongshan Hospital, Fudan University from November 2021 to July 2023. All patients underwent needle electrode electromyography in the lateral facial muscles, and tests of motor branch conduction of facial nerves, blinking reflex and LSR; the general data, myokymia incidence, latency of facial nerves, abnormal rate and R1 amplitude of blinking reflex, and LSR detection rate and latency were compared among the 3 groups. Spearman correlation was used to analyze the correlation between course of primary HFS and LSR presence or absence. For patients with primary HFS accepted MVD, MVD efficacy was evaluated according to Shorr efficacy evaluation criteria 1 month after procedure, and efficacy differences between patients with LSR presence and LSR absence were compared. Results:(1) Compared with the Meige syndrome group, the group of HFS caused by facial palsy had significantly younger age, and the group of HFS caused by facial palsy and primary HFS group had statistically higher incidence of left side lesions ( P<0.05). The latency of facial nerves in group of HFS caused by facial palsy ([2.97±0.63] ms) was significantly longer than that in the primary HFS group ([2.46±0.59] ms) and Meige syndrome group ([2.53±0.62] ms, P<0.05). The abnormal rate of blinking reflex in group of HFS caused by facial palsy (59.26%) was significantly higher than that in primary HFS group (23.26%) and Meige syndrome group (21.43%, P<0.05). The LSR detection rate in primary HSF group (48.84%) was statistically higher than that in group of HFS caused by facial palsy (37.04%) and Meige syndrome group (7.14%, P<0.05). The LSR latency in group of HFS caused by facial palsy (12.30[12.30, 13.80] ms) was significantly longer than that in the primary HFS group (11.20[9.73, 11.20] ms, P<0.05). (2) No significant correlation was noted between course of primary HFS and LSR presence or absence ( rs=0.051, P=0.640). (3) In 33 patients with primary HFS accepted MVD, no significant difference in MVD efficacy was noted between patients with LSR presence ( n=22) and those with LSR absence ( n=11, P>0.05). Conclusion:In patients with LSR presence and long latency of facial nerves and LSR, HFS caused by facial palsy should be considered; preoperative LSR can not predict the MVD efficacy in patients with primary HFS.

Objective:To investigate the role of lateral spread response (LSR) of the facial nerves in distinguishing primary hemifacial spasm (HFS), HFS caused by facial palsy and Meige syndrome, and explore the relationship between LSR presence or absence before microvascular decompression (MVD) and MVD efficacy in patients with primary HFS.Methods:A retrospective analysis was performed; 127 patients with HFS, including primary HFS ( n=86), HFS caused by facial palsy ( n=27) and Meige syndrome ( n=14), were enrolled in Department of Neurology, Zhongshan Hospital, Fudan University from November 2021 to July 2023. All patients underwent needle electrode electromyography in the lateral facial muscles, and tests of motor branch conduction of facial nerves, blinking reflex and LSR; the general data, myokymia incidence, latency of facial nerves, abnormal rate and R1 amplitude of blinking reflex, and LSR detection rate and latency were compared among the 3 groups. Spearman correlation was used to analyze the correlation between course of primary HFS and LSR presence or absence. For patients with primary HFS accepted MVD, MVD efficacy was evaluated according to Shorr efficacy evaluation criteria 1 month after procedure, and efficacy differences between patients with LSR presence and LSR absence were compared. Results:(1) Compared with the Meige syndrome group, the group of HFS caused by facial palsy had significantly younger age, and the group of HFS caused by facial palsy and primary HFS group had statistically higher incidence of left side lesions ( P<0.05). The latency of facial nerves in group of HFS caused by facial palsy ([2.97±0.63] ms) was significantly longer than that in the primary HFS group ([2.46±0.59] ms) and Meige syndrome group ([2.53±0.62] ms, P<0.05). The abnormal rate of blinking reflex in group of HFS caused by facial palsy (59.26%) was significantly higher than that in primary HFS group (23.26%) and Meige syndrome group (21.43%, P<0.05). The LSR detection rate in primary HSF group (48.84%) was statistically higher than that in group of HFS caused by facial palsy (37.04%) and Meige syndrome group (7.14%, P<0.05). The LSR latency in group of HFS caused by facial palsy (12.30[12.30, 13.80] ms) was significantly longer than that in the primary HFS group (11.20[9.73, 11.20] ms, P<0.05). (2) No significant correlation was noted between course of primary HFS and LSR presence or absence ( rs=0.051, P=0.640). (3) In 33 patients with primary HFS accepted MVD, no significant difference in MVD efficacy was noted between patients with LSR presence ( n=22) and those with LSR absence ( n=11, P>0.05). Conclusion:In patients with LSR presence and long latency of facial nerves and LSR, HFS caused by facial palsy should be considered; preoperative LSR can not predict the MVD efficacy in patients with primary HFS.

Acute mountain sickness (AMS) is a clinical syndrome of multi-system physiological disorder after acute exposure to low pressure and low oxygen at high altitude. Quantitative proteomics can systematically quantify and describe protein composition and dynamic changes. In recent years, quantitative proteomics has been widely used in the prevention, diagnosis, treatment and pathogenesis of many diseases. This review summarizes the progress of quantitative proteomics techniques and its application in the prevention, diagnosis, treatment of AMS and mechanisms of rapidly acclimatizing to plateau, in order to provide a reference for the pathogenesis, early intervention, clinical treatment and proteomic research of AMS.
Humans ; Altitude Sickness/prevention & control* ; Proteomics ; Acute Disease ; Oxygen/metabolism*

Humans ; Data Warehousing ; East Asian People ; Intracranial Hemorrhages/diagnostic imaging* ; Asian People ; Cerebral Hemorrhage/diagnostic imaging*