Objective Exploring the clinical diagnosis and treatment status of epilepsy patients at the epilepsy specialty clinic in a single-center comprehensive hospital in the Lhasa area of the Tibetan Plateau.Methods Epilepsy patients who visited the epilepsy specialty clinic of the Department of Neurology at the Tibet Autonomous Region People's Hospital from September 2021 to June 2023 were continuously enrolled.Data such as clinical characteristics and diagnosis and treatment conditions of the enrolled patients was analyzed.Results A total of 121 patients were enrolled in this study,with 33.9%(41/121 cases)being new patients at our hospital and 6.6%(8/121 cases)being referred to our hospital.Non-adherence to treatment,with patients self-reducing or stopping medication without medical advice,accounted for 8.3%(10/121 cases)of the cases.The majority of epilepsy patients were in the young and middle-aged group,with 51.2%(62/121 cases)being between 18 and 44 years old.There were significant differences in the distribution of epilepsy patients across different age groups(P<0.001),while there was no significant difference in gender distribution(49.6%male vs.50.4%female,P>0.05).Generalized seizures were the predominant type of seizure(75.2%,91/121 cases),and 73.6%(89/121 cases)of the patients had an unknown etiology for their epilepsy,with symptomatic epilepsy accounting for 26.4%(32/121 cases)and structural causes being the most common at 24.8%(30/121 cases).Monotherapy was the main treatment for epilepsy(55.4%,67/121 cases),with sodium valproate being the most frequently prescribed drug for monotherapy at 22.3%(27/121 cases).Conclusion In the epilepsy specialty clinic in the plateau region,newly diagnosed patients account for about one-third,and over one-tenth of revisiting patients have not been receiving standardized treatment.The majority of our epilepsy patients are young to middle-aged adults.Generalized seizures are the predominant type.The etiology is unknown in the majority of cases,with structural causes being a common etiology in symptomatic epilepsy.Sodium valproate is the most frequently used antiseizure medication(ASM)in monotherapy in the plateau area.

Mitochondrial diabetes mellitus(MDM)is a genetically heterogeneous disorder caused by mitochondrial DNA(mtDNA)or nuclear DNA mutations,characterized by multi-system involvement and diverse clinical phenotypes.We report a pediatric case presenting with growth retardation followed by subsequent development of diabetes mellitus.Systematic evaluation revealed concurrent bilateral sensorineural hearing loss,bilateral basal ganglia calcification,and electroencephalographic abnormalities.A post-exercise lactate test demonstrated significant elevation of serum lactate levels immediately after physical exertion.Genetic analysis identified a large-scale mitochondrial DNA deletion spanning from m.8649 to m.16084.This case re-port is complemented by a literature review focusing on the pathogenesis,genetic characteristics,and therapeu-tic approaches of mitochondrial diabetes,with particular emphasis on mitochondrial disorders exhibiting large-scale mtDNA deletions alongside diabetic manifestations.Our comprehensive analysis aims to enhance clinical understanding and inform diagnostic strategies for this complex disease entity.

Objective:To evaluate the application effect of spiral cyclic intervention with information support based on knowledge, attitude/belief, practice (KABP) Model on the quality of life among hospitalized people living with HIV/AIDS (PLWHA), in order to provide a scientific basis for improving quality of life intervention strategies.Methods:This was a random-controlled trial. A total of 50 hospitalized PLWHA admitted to the Infectious Diseases Department of Xi'an Eighth Hospital from October 2021 to November 2023 were randomly divided into an intervention group and a control group by random number table method. The intervention group received a 12-week spiral cyclic intervention with information support, while the control group received routine nursing care. The quality of life data were collected at baseline, week 4, and week 12. Data analysis was conducted using Chi-square test, t-test and generalized estimating equation(GEE). Results:A total of 50 PLWHA were enrolled with 25 cases in each group. The control group comprised 22 males and 3 females aged 17-60 years, while the intervention group included 23 males and 2 females aged 21-60 years. GEE results showed that after 12 weeks of intervention, the intervention group scored significantly higher than the control group in physical health summary and eight dimensions: mental health, health distress, quality of life, cognitive functioning, pain, role functioning, general health perceptions, and health transition. Specifically, the intervention group′s scores were (49.45 ± 1.45), (64.99 ± 3.25), (69.29 ± 4.13), (61.71 ± 2.63), (76.46 ± 3.85), (81.54 ± 3.80), (82.05 ± 5.68), (55.80 ± 3.52), and (64.15 ± 3.28) points, compared to the control group′s (45.39 ± 1.17), (52.75 ± 2.19), (54.08 ± 4.15), (51.03 ± 3.07), (65.14 ± 3.36), (71.41 ± 3.39), (60.84 ± 6.15), (44.57 ± 2.40), and (51.43 ± 3.08) points. All differences were statistically significant (Wald χ2 values were 3.97-9.53, all P<0.05). Conclusions:The spiral cyclic intervention with information support based on the KABP Model effectively improves the quality of life of hospitalized PLWHA, particularly in physical health summary.

Objective:To investigate lipid metabolism gene mutations and pathogenicity of hypertriglyceridemia acute pancreatitis (HTG-AP) patients.Methods:Clinical data of 495 HTG-AP patients admitted from June 2018 to June 2020 in the center for severe acute pancreatitis of Eastern Theater General Hospital were retrospectively analyzed. Whole-exome sequencing and mutation verification were performed by next-generation sequencing technology and Sanger sequencing. The pathogenicity of gene mutation was analyzed by population mutation ratio, pathogenicity prediction software, conservation scoring software, protein structure prediction, and in vitro experiments. Results:The mutation ratio of lipid metabolism-related genes, namely LPL, APOA5, LMF1, GPIHBP1, and APOC2, were 14.81%, 55.78%, 43.61%, 1.62%, and 0.61%, respectively. Among them, 44 heterozygous mutations in LPL gene were detected including 36 missense mutations, 5 nonsense mutations and 3 frameshift mutations, which were all rarely carried in single patient. Six HTG-AP patients carried the LPL gene heterozygous mutation c.835C>G (p.Leu279Val). The mean level of serum triglyceride at the onset of HTG-AP was 27.4 mmol/L. All of them had a history of recurrent HTG-AP, and most of them had severe acute pancreatitis. The serum LPL concentration and activity were lower than the normal level. The pathogenicity analysis results suggested that the LPL p.Leu279Val was a rare, highly possible pathogenic and highly conserved gene mutation. The in vitro results showed that the LPL p.Leu279Val could significantly reduce the synthesis and secretion ability of LPL as well as its enzymatic activity. Conclusions:The mutation ratio of lipid metabolism-related genes, including LPL, APOA5, LMF1, GPIHBP1, and APOC2, are relatively high in the HTG-AP patients. The LPL p.Leu279Val is a rare and highly possible pathogenic gene mutation, which may lead to recurrent episodes of HTG-AP.

Objective Exploring the clinical diagnosis and treatment status of epilepsy patients at the epilepsy specialty clinic in a single-center comprehensive hospital in the Lhasa area of the Tibetan Plateau.Methods Epilepsy patients who visited the epilepsy specialty clinic of the Department of Neurology at the Tibet Autonomous Region People's Hospital from September 2021 to June 2023 were continuously enrolled.Data such as clinical characteristics and diagnosis and treatment conditions of the enrolled patients was analyzed.Results A total of 121 patients were enrolled in this study,with 33.9%(41/121 cases)being new patients at our hospital and 6.6%(8/121 cases)being referred to our hospital.Non-adherence to treatment,with patients self-reducing or stopping medication without medical advice,accounted for 8.3%(10/121 cases)of the cases.The majority of epilepsy patients were in the young and middle-aged group,with 51.2%(62/121 cases)being between 18 and 44 years old.There were significant differences in the distribution of epilepsy patients across different age groups(P<0.001),while there was no significant difference in gender distribution(49.6%male vs.50.4%female,P>0.05).Generalized seizures were the predominant type of seizure(75.2%,91/121 cases),and 73.6%(89/121 cases)of the patients had an unknown etiology for their epilepsy,with symptomatic epilepsy accounting for 26.4%(32/121 cases)and structural causes being the most common at 24.8%(30/121 cases).Monotherapy was the main treatment for epilepsy(55.4%,67/121 cases),with sodium valproate being the most frequently prescribed drug for monotherapy at 22.3%(27/121 cases).Conclusion In the epilepsy specialty clinic in the plateau region,newly diagnosed patients account for about one-third,and over one-tenth of revisiting patients have not been receiving standardized treatment.The majority of our epilepsy patients are young to middle-aged adults.Generalized seizures are the predominant type.The etiology is unknown in the majority of cases,with structural causes being a common etiology in symptomatic epilepsy.Sodium valproate is the most frequently used antiseizure medication(ASM)in monotherapy in the plateau area.

Objective:To evaluate the application effect of spiral cyclic intervention with information support based on knowledge, attitude/belief, practice (KABP) Model on the quality of life among hospitalized people living with HIV/AIDS (PLWHA), in order to provide a scientific basis for improving quality of life intervention strategies.Methods:This was a random-controlled trial. A total of 50 hospitalized PLWHA admitted to the Infectious Diseases Department of Xi'an Eighth Hospital from October 2021 to November 2023 were randomly divided into an intervention group and a control group by random number table method. The intervention group received a 12-week spiral cyclic intervention with information support, while the control group received routine nursing care. The quality of life data were collected at baseline, week 4, and week 12. Data analysis was conducted using Chi-square test, t-test and generalized estimating equation(GEE). Results:A total of 50 PLWHA were enrolled with 25 cases in each group. The control group comprised 22 males and 3 females aged 17-60 years, while the intervention group included 23 males and 2 females aged 21-60 years. GEE results showed that after 12 weeks of intervention, the intervention group scored significantly higher than the control group in physical health summary and eight dimensions: mental health, health distress, quality of life, cognitive functioning, pain, role functioning, general health perceptions, and health transition. Specifically, the intervention group′s scores were (49.45 ± 1.45), (64.99 ± 3.25), (69.29 ± 4.13), (61.71 ± 2.63), (76.46 ± 3.85), (81.54 ± 3.80), (82.05 ± 5.68), (55.80 ± 3.52), and (64.15 ± 3.28) points, compared to the control group′s (45.39 ± 1.17), (52.75 ± 2.19), (54.08 ± 4.15), (51.03 ± 3.07), (65.14 ± 3.36), (71.41 ± 3.39), (60.84 ± 6.15), (44.57 ± 2.40), and (51.43 ± 3.08) points. All differences were statistically significant (Wald χ2 values were 3.97-9.53, all P<0.05). Conclusions:The spiral cyclic intervention with information support based on the KABP Model effectively improves the quality of life of hospitalized PLWHA, particularly in physical health summary.

Objective:To investigate lipid metabolism gene mutations and pathogenicity of hypertriglyceridemia acute pancreatitis (HTG-AP) patients.Methods:Clinical data of 495 HTG-AP patients admitted from June 2018 to June 2020 in the center for severe acute pancreatitis of Eastern Theater General Hospital were retrospectively analyzed. Whole-exome sequencing and mutation verification were performed by next-generation sequencing technology and Sanger sequencing. The pathogenicity of gene mutation was analyzed by population mutation ratio, pathogenicity prediction software, conservation scoring software, protein structure prediction, and in vitro experiments. Results:The mutation ratio of lipid metabolism-related genes, namely LPL, APOA5, LMF1, GPIHBP1, and APOC2, were 14.81%, 55.78%, 43.61%, 1.62%, and 0.61%, respectively. Among them, 44 heterozygous mutations in LPL gene were detected including 36 missense mutations, 5 nonsense mutations and 3 frameshift mutations, which were all rarely carried in single patient. Six HTG-AP patients carried the LPL gene heterozygous mutation c.835C>G (p.Leu279Val). The mean level of serum triglyceride at the onset of HTG-AP was 27.4 mmol/L. All of them had a history of recurrent HTG-AP, and most of them had severe acute pancreatitis. The serum LPL concentration and activity were lower than the normal level. The pathogenicity analysis results suggested that the LPL p.Leu279Val was a rare, highly possible pathogenic and highly conserved gene mutation. The in vitro results showed that the LPL p.Leu279Val could significantly reduce the synthesis and secretion ability of LPL as well as its enzymatic activity. Conclusions:The mutation ratio of lipid metabolism-related genes, including LPL, APOA5, LMF1, GPIHBP1, and APOC2, are relatively high in the HTG-AP patients. The LPL p.Leu279Val is a rare and highly possible pathogenic gene mutation, which may lead to recurrent episodes of HTG-AP.

Mitochondrial diabetes mellitus (MDM) is a genetically heterogeneous disorder caused by mitochondrial DNA (mtDNA) or nuclear DNA mutations, characterized by multi-system involvement and diverse clinical phenotypes. We report a pediatric case presenting with growth retardation followed by subsequent development of diabetes mellitus. Systematic evaluation revealed concurrent bilateral sensorineural hearing loss, bilateral basal ganglia calcification, and electroencephalographic abnormalities. A post-exercise lactate test demonstrated significant elevation of serum lactate levels immediately after physical exertion. Genetic analysis identified a large-scale mitochondrial DNA deletion spanning from m.8649 to m.16084. This case report is complemented by a literature review focusing on the pathogenesis, genetic characteristics, and therapeutic approaches of mitochondrial diabetes, with particular emphasis on mitochondrial disorders exhibiting large-scale mtDNA deletions alongside diabetic manifestations. Our comprehensive analysis aims to enhance clinical understanding and inform diagnostic strategies for this complex disease entity.

The different fate of liposomes among species has been discovered and mentioned in many studies, but the underlying mechanisms have not been explored. In the present work, we concentrated on the in vivo fate of PEGylated liposomes (sLip) in three commonly used species (mice, rats, and dogs). It was exhibited that the accelerated blood clearance (ABC) phenomenon and hypersensitivity in large animals (beagle dogs) were much more significant than that in rodents. We demonstrated that anti-PEG IgM (partially) and complement (mostly) determined the elimination of sLip and linked the distinct interspecies performances with the diverse complement capacity among species. Based on the data from animals and clinical patients, it was revealed that the fate of sLip in large animals was closer to that in humans, for the sufficient complement capacity could expose the potential adverse reactions caused by anti-PEG antibodies. Our results suggested that the distinctive interspecies performances of sLip were highly related to the physiological variabilities among species, which should not be overlooked in the innovation and translation of nanomedicines.

Objective:To understand the current status of existential distress in patients with advanced lung cancer and analyze its influencing factors, so as to provide a reference for developing targeted intervention programs.Methods:A total of 320 patients with advanced lung cancer were selected using convenience sampling from two Class Ⅲ Grade A hospitals in Weifang between February 2022 and August 2023. The data were collected using a General Information Questionnaire, the Chinese Version of the Existential Distress Scale (EDS), the Social Support Revalued Scale (SSRS), the Chinese Version of the Strategies Used by People to Promote Health (SUPPH), and Patient Health Questionnaire-9 (PHQ-9). Spearman correlation analysis was conducted to analyze the relationships between EDS, SSRS, SUPPH, and PHQ-9 scores, and multiple linear regression analysis was used to identify the influencing factors of existential distress in patients with advanced lung cancer. A total of 320 questionnaires were distributed, with 318 valid responses, yielding a valid response rate of 99.38% (318/320) .Results:The total EDS score for the 318 patients was 3.00 (2.00, 4.00). EDS scores were positively correlated with PHQ-9 scores and negatively correlated with SSRS and SUPPH scores ( P<0.01). Multiple linear regression analysis showed that marital status, social support, self-management efficacy, and depression were influencing factors of existential distress in patients with advanced lung cancer ( P<0.05) . Conclusions:Patients with advanced lung cancer experience mild existential distress. Medical staff should assess existential distress levels, paying close attention to patients who are divorced or widowed, have low levels of social support and self-management efficacy, or are experiencing depression. Early interventions should be developed to alleviate negative emotions and help patients rebuild their sense of meaning, thereby improving psychological well-being and reducing survival distress.