Mitochondrial neurogastrointestinal encephalomyopathy(MNGIE),a rare mitochondrial disorder caused by TYMP gene mutations,is characterized by severe gastrointestinal dysmotility,peripheral neuropathy,and leukodystrophy.This article summarizes the clinical data and intestinal ultrasound findings of a MNGIE case,aiming to provide insights for clinical diagnosis and treatment.
Humans ; Mitochondrial Encephalomyopathies/diagnostic imaging* ; Ultrasonography ; Intestines/diagnostic imaging* ; Male ; Female ; Intestinal Pseudo-Obstruction/diagnostic imaging* ; Ophthalmoplegia/congenital* ; Muscular Dystrophy, Oculopharyngeal

Objective:To explore the predictive value of baseline complete blood count derivative marker levels for the occurrence of the first peritonitis in patients undergoing peritoneal dialysis (PD).Methods:This study was a retrospective cohort study. The data of inpatients who underwent PD catheterization in Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology from April 1, 2005 to February 29, 2024 were collected and followed up until June 1, 2024. According to the 2022 International Society for Peritoneal Dialysis guidelines for peritonitis prevention and treatment, the patients were divided into the peritonitis group and the non-peritonitis group. Basic demographic data and laboratory parameters of the patients were collected, and inflammatory markers derived from complete blood count were calculated, including the comprehensive index of systemic inflammation, the systemic inflammation response index (SIRI), the ratio of hemoglobin to platelets (HPR), and the ratio of monocytes to lymphocytes (MLR). Cox regression analysis was conducted to identify factors associated with the occurrence of peritonitis.Results:A total of 824 PD patients aged ≥18 years were included in this study. Among them, there were 398 males (48.30%), with an age of 42.06 (33.04, 52.01) years, and the follow-up time was 595.00 (173.50, 1 158.00) d. The proportion of conversion to hemodialysis or death in the peritonitis group was higher than that in the non-peritonitis group (40.91% vs. 13.58%, χ 2=56.173, P<0.001). The age of the peritonitis group was greater than that of the non-peritonitis group [45.05(34.92, 52.99) year old vs. 41.11(32.89, 51.46) year old, Z=-1.978, P=0.048], and the follow-up time was lower than that in the non-peritonitis group [529.50(146.25, 861.00) d vs. 627.00(177.00, 1 222.50)d, Z=-2.260, P=0.024]. A multivariate Cox analysis model was constructed based on the univariate Cox analysis. After adjusting for covariates, the results showed the comprehensive index of systemic inflammation ( HR=0.997, 95% CI 0.995-0.998, P<0.001), HPR ( HR=0.520, 95% CI 0.271-0.995, P=0.048), MLR ( HR=7.027, 95% CI 1.468-33.636, P=0.015) and SIRI ( HR=2.673, 95% CI 1.302-5.488, P=0.007) were the related factors for the first occurrence of peritonitis. Conclusion:The levels of inflammatory markers derived from baseline complete blood count, especially MLR, SIRI and HPR, are the independent influencing factors for the occurrence of the first peritonitis in patients with PD.

Objective:To investigate the clinicopathological characteristics of adamantinomatous craniopharyngioma (ACP) and papillary craniopharyngioma (PCP).Methods:A total of 71 cases craniopharyngioma, included 52 cases of ACP and 19 cases of PCP, diagnosed at the First Affiliated Hospital of University of Science and Technology of China (Anhui Provincial Hospital), Hefei, China from September 2019 to November 2023 were collected. Clinical pathological data were analyzed, immunohistochemical staining was performed, and mutations in the CTNNB1 and BRAF V600E genes were examined to identify differences between ACP and PCP.Results:The ACP cohort comprised 27 male and 25 female patients, with an age at onset ranging from 6 to 70 years, mean age (42.0±18.3) years. In contrast, the PCP group included 15 males and 4 females, with an age at onset spanning 28 to 74 years, mean age (51.0±13.3) years. The ACP group more commonly showed calcifications on imaging than the PCP group [92.3% (48/52) versus 11/19]. Partial tumor resection and the maximum diameter of the tumor were important factors affecting the recurrence of ACP. Whorled cell clusters, wet keratinization, stellate reticulum, cysts, and calcification were more often seen in ACP than PCP ( P<0.05). Immunohistochemically, all (100%,52/52) of the ACP showed nuclear β-catenin expression, with varying degrees of expression in the nodular whorls, and scattered cytoplasmic β-catenin expression. The BRAF V600E expression was found in the cytoplasm of all (19/19) PCP cases, but only non-specific BRAF V600E nuclear positivity was observed in ACP cases. Molecular testing showed that the mutation rate of the CTNNB1 gene in ACP was 22.7% (5/22), and the mutation rate of the BRAF V600E in PCP was 19/19. Conclusions:ACP and PCP have different age at onset, radiological features, histopathological morphology, and genetic alterations. Proper use and interpretation of immunohistochemical results can help distinguish between ACP and PCP, while molecular testing can be used as an auxiliary diagnostic modality.

Objective To investigate the expression and clinical significance of 12 plasma cytokines in patients with pancreatic cancer.Methods The study included 120 patients with pancreatic cancer diagnosed and treated at Qingdao University Affiliated Hospital and 68 healthy controls from March 2023 to June 2024.The levels of 12 plasma cytokines,including interleukin(IL)-1 β,IL-2,IL-4,IL-5,IL-6,IL-8,IL-10,IL-12P,IL-17,interferon(IFN)-α,IFN-γ,and tumor necrosis factor(TNF)-α,were detected using mul-tiplex bead-based flow immunoassay.The levels of tumor markers carcinoembryonic antigen(CEA),carbohydrate antigen 19-9(CA19-9)and carbohydrate antigen 72-4(CA 72-4)in the serum of pancreatic cancer patients were detected by electrochemilumines-cence,while carbohydrate antigen 242(CA242)were detected by chemiluminescence methods.The correlation between the expression levels of differentially expressed cytokines and those of tumor markers was analyzed using Spearman's rank correlation.Results The plasma levels of 9 cytokines(IL-1 β,IL-4,IL-5,IL-6,IL-8,IL-10,IL-17,IFN-α,and IFN-γ)in the patients with pancreatic canc-er were significantly higher than those in controls(all P＜0.05).The levels of IL-1 β,IL-6,IL-8,IL-10,and IL-17 in the advanced pancreatic cancer group were significantly higher than those in the early-stage group(P＜0.05).The plasma IL-6 level in the poorly dif-ferentiated pancreatic cancer group was significantly higher than that in the well-differentiated group(P＜0.05).The serum levels of CEA,CA19-9,CA242,and CA72-4 in the advanced pancreatic cancer group were significantly higher than those in the early-stage group(P＜0.05).The serum CEA level in the poorly differentiated pancreatic cancer group was significantly higher than that in the moderately differentiated pancreatic cancer group(P＜0.05).After four cycles of chemotherapy,IL-8 levels in the disease control group were significantly reduced compared to pre-treatment levels(P＜0.05),while IL-6,IL-8,and IL-10 levels in the disease progression group were significantly elevated compared to pre-treatment levels(all P＜0.05).In the patients with pancreatic cancer,plasma IL-6 levels were positively correlated with serum CEA levels(rs=0.238,P＜0.01)and serum CA19-9 levels(rs=0.186,P＜0.05).The plasma IL-10 levels were positively correlated with serum CA72-4(rs=0.220,P＜0.05)levels in the patients.Conclusion Nine cyto-kines in plasma,such as IL-6,etc.may be involved in the formation of the inflammatory microenvironment of pancreatic cancer,as well as in the proliferation and differentiation of tumor cells.The determination of their plasma levels should be helpful for the assessing disease conditions and therapeutic effects.

Objective:Analyze the risk factors for acute lung injury of postoperative acute lung injury(ALI)in patients with Stanford type A aortic dissection(STAAD),and construct a nomogram predictive model.Methods:A retrospective cohort study design was adopted.A total of 112 patients with STAAD who underwent surgical treatment in our hopital from January 2021 to August 2024 were included.They were divided into two groups according to the occurrence of ALI after the surgical:non-ALI group(73 cases)and ALI group(39 cases).Clinical data were collected from both groups of patients.The influencing factors of postoperative ALI in patients with STAAD were analyzed by multivariate logistic regression.Established nomogram prediction model based on influencing factors and validated.Results:Among 112 patients with STAAD who underwent surgical treatment,39 case postoperative ALI occurred,with an incidence rate of 34.82％.Age,preoperative creatinine,body mass index(BMI),preoperative white blood cell count,preoperative lactate and other aspects compared,The difference were statistically significant(P＜0.05).The length of stay in the intensive care unit(ICU)of the ALI group was longer than that of the non ALI group(P＜0.05).The intraoperative red blood cell transfusion volume and extracorporeal circulation time in the ALI group were higher than those in the non ALI group(P＜0.05).Long intraoperative cardiopulmonary bypass time,high BMI,high intraoperative red blood cell transfusion volume and high preoperative white blood cell count were risk factors for postoperative ALI(P＜0.05).The receiver operating characteristic(ROC)curve analysis results show that,the Area under the curve(AUC)of the nomogram prediction model was 0.871.When the optimal critical value was 0.472,its sensitivity and specificity wew 0.887 and 0.776,respectively.The internal validation results of Bootstrap show that,the C-index of the column chart prediction model was 0.862,with an absolute error of 0.032.The calibration curve is close to the ideal curve and the original curve,with a slope close to 1.Conclusions:Long intraoperative cardiopulmonary bypass time,high BMI,high intraoperative red blood cell transfusion volume and high preoperative white blood cell count are independent risk factors for postoperative ALI in patients with STAAD.The nomogram model constructed based on the above risk factors can effectively evaluate the risk of postoperative ALI in patients with STAAD.

Objective:To identify the gene mutation types of 4 suspected β-thalassemia patients in Yunnan Province,and to analyze the genotypes and hematological phenotypes.Methods:Whole genome sequencing was performed on the samples of 4 suspected β-thalassemia patients from the Dai ethnic group in a thalassemia endemic area of Yunnan Province,whose hematological phenotypes were not consistent with the results of common thalassemia gene mutations.The mutations of β-globin gene clusters were confirmed by polymerase chain reaction(PCR)and Sanger DNA sequencing technology.Results:The 3.5 kb deletion in β-globin gene cluster(NC_000011.10:g.5224302-5227791 del3490bp)was detected in 4 patients'samples,of which 1 case was also detected with HbE mutation and 1 case with CD17 mutation.These 2 patients displayed moderate anemia phenotype,while the two patients with only the 3.5 kb deletion presented with other mild anemia phenotype.Conclusion:Heterozygous carriers with rare 3.5 kb deletion of the β-globin gene cluster may develop mild anemia,compound mutations of the 3.5 kb deletion with other mutations may led to intermediate thalasemia with moderate to sever anemia.In areas with a high incidence of thalassemia,suspected patients should undergo genetic testing to avoid missing or misdiagnosing rare mutations.

Objective:Analyze the risk factors for acute lung injury of postoperative acute lung injury(ALI)in patients with Stanford type A aortic dissection(STAAD),and construct a nomogram predictive model.Methods:A retrospective cohort study design was adopted.A total of 112 patients with STAAD who underwent surgical treatment in our hopital from January 2021 to August 2024 were included.They were divided into two groups according to the occurrence of ALI after the surgical:non-ALI group(73 cases)and ALI group(39 cases).Clinical data were collected from both groups of patients.The influencing factors of postoperative ALI in patients with STAAD were analyzed by multivariate logistic regression.Established nomogram prediction model based on influencing factors and validated.Results:Among 112 patients with STAAD who underwent surgical treatment,39 case postoperative ALI occurred,with an incidence rate of 34.82％.Age,preoperative creatinine,body mass index(BMI),preoperative white blood cell count,preoperative lactate and other aspects compared,The difference were statistically significant(P＜0.05).The length of stay in the intensive care unit(ICU)of the ALI group was longer than that of the non ALI group(P＜0.05).The intraoperative red blood cell transfusion volume and extracorporeal circulation time in the ALI group were higher than those in the non ALI group(P＜0.05).Long intraoperative cardiopulmonary bypass time,high BMI,high intraoperative red blood cell transfusion volume and high preoperative white blood cell count were risk factors for postoperative ALI(P＜0.05).The receiver operating characteristic(ROC)curve analysis results show that,the Area under the curve(AUC)of the nomogram prediction model was 0.871.When the optimal critical value was 0.472,its sensitivity and specificity wew 0.887 and 0.776,respectively.The internal validation results of Bootstrap show that,the C-index of the column chart prediction model was 0.862,with an absolute error of 0.032.The calibration curve is close to the ideal curve and the original curve,with a slope close to 1.Conclusions:Long intraoperative cardiopulmonary bypass time,high BMI,high intraoperative red blood cell transfusion volume and high preoperative white blood cell count are independent risk factors for postoperative ALI in patients with STAAD.The nomogram model constructed based on the above risk factors can effectively evaluate the risk of postoperative ALI in patients with STAAD.

Objective To investigate the expression and clinical significance of 12 plasma cytokines in patients with pancreatic cancer.Methods The study included 120 patients with pancreatic cancer diagnosed and treated at Qingdao University Affiliated Hospital and 68 healthy controls from March 2023 to June 2024.The levels of 12 plasma cytokines,including interleukin(IL)-1 β,IL-2,IL-4,IL-5,IL-6,IL-8,IL-10,IL-12P,IL-17,interferon(IFN)-α,IFN-γ,and tumor necrosis factor(TNF)-α,were detected using mul-tiplex bead-based flow immunoassay.The levels of tumor markers carcinoembryonic antigen(CEA),carbohydrate antigen 19-9(CA19-9)and carbohydrate antigen 72-4(CA 72-4)in the serum of pancreatic cancer patients were detected by electrochemilumines-cence,while carbohydrate antigen 242(CA242)were detected by chemiluminescence methods.The correlation between the expression levels of differentially expressed cytokines and those of tumor markers was analyzed using Spearman's rank correlation.Results The plasma levels of 9 cytokines(IL-1 β,IL-4,IL-5,IL-6,IL-8,IL-10,IL-17,IFN-α,and IFN-γ)in the patients with pancreatic canc-er were significantly higher than those in controls(all P＜0.05).The levels of IL-1 β,IL-6,IL-8,IL-10,and IL-17 in the advanced pancreatic cancer group were significantly higher than those in the early-stage group(P＜0.05).The plasma IL-6 level in the poorly dif-ferentiated pancreatic cancer group was significantly higher than that in the well-differentiated group(P＜0.05).The serum levels of CEA,CA19-9,CA242,and CA72-4 in the advanced pancreatic cancer group were significantly higher than those in the early-stage group(P＜0.05).The serum CEA level in the poorly differentiated pancreatic cancer group was significantly higher than that in the moderately differentiated pancreatic cancer group(P＜0.05).After four cycles of chemotherapy,IL-8 levels in the disease control group were significantly reduced compared to pre-treatment levels(P＜0.05),while IL-6,IL-8,and IL-10 levels in the disease progression group were significantly elevated compared to pre-treatment levels(all P＜0.05).In the patients with pancreatic cancer,plasma IL-6 levels were positively correlated with serum CEA levels(rs=0.238,P＜0.01)and serum CA19-9 levels(rs=0.186,P＜0.05).The plasma IL-10 levels were positively correlated with serum CA72-4(rs=0.220,P＜0.05)levels in the patients.Conclusion Nine cyto-kines in plasma,such as IL-6,etc.may be involved in the formation of the inflammatory microenvironment of pancreatic cancer,as well as in the proliferation and differentiation of tumor cells.The determination of their plasma levels should be helpful for the assessing disease conditions and therapeutic effects.

Objective:To explore the predictive value of baseline complete blood count derivative marker levels for the occurrence of the first peritonitis in patients undergoing peritoneal dialysis (PD).Methods:This study was a retrospective cohort study. The data of inpatients who underwent PD catheterization in Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology from April 1, 2005 to February 29, 2024 were collected and followed up until June 1, 2024. According to the 2022 International Society for Peritoneal Dialysis guidelines for peritonitis prevention and treatment, the patients were divided into the peritonitis group and the non-peritonitis group. Basic demographic data and laboratory parameters of the patients were collected, and inflammatory markers derived from complete blood count were calculated, including the comprehensive index of systemic inflammation, the systemic inflammation response index (SIRI), the ratio of hemoglobin to platelets (HPR), and the ratio of monocytes to lymphocytes (MLR). Cox regression analysis was conducted to identify factors associated with the occurrence of peritonitis.Results:A total of 824 PD patients aged ≥18 years were included in this study. Among them, there were 398 males (48.30%), with an age of 42.06 (33.04, 52.01) years, and the follow-up time was 595.00 (173.50, 1 158.00) d. The proportion of conversion to hemodialysis or death in the peritonitis group was higher than that in the non-peritonitis group (40.91% vs. 13.58%, χ 2=56.173, P<0.001). The age of the peritonitis group was greater than that of the non-peritonitis group [45.05(34.92, 52.99) year old vs. 41.11(32.89, 51.46) year old, Z=-1.978, P=0.048], and the follow-up time was lower than that in the non-peritonitis group [529.50(146.25, 861.00) d vs. 627.00(177.00, 1 222.50)d, Z=-2.260, P=0.024]. A multivariate Cox analysis model was constructed based on the univariate Cox analysis. After adjusting for covariates, the results showed the comprehensive index of systemic inflammation ( HR=0.997, 95% CI 0.995-0.998, P<0.001), HPR ( HR=0.520, 95% CI 0.271-0.995, P=0.048), MLR ( HR=7.027, 95% CI 1.468-33.636, P=0.015) and SIRI ( HR=2.673, 95% CI 1.302-5.488, P=0.007) were the related factors for the first occurrence of peritonitis. Conclusion:The levels of inflammatory markers derived from baseline complete blood count, especially MLR, SIRI and HPR, are the independent influencing factors for the occurrence of the first peritonitis in patients with PD.