Objective:To explore the clinical features of a child with Lamb-Shaffer syndrome (LAMSHF) due to a variant of SOX5 gene. Methods:A child who was admitted to Children′s Hospital Affiliated to Zhengzhou University in July 2022 was selected as the study subject. Clinical data of the child was collected. Whole exome sequencing (WES) was carried out on peripheral blood samples from the child and his parents, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. The study has been approved by the Medical Ethics Committee of the Children′s Hospital Affiliated to Zhengzhou University (Ethics No. 2024-K-100).Results:The child, an one-year-and-seven-month-old male, has manifested delayed development in speech and language, intelligence and movement, in addition with mild facial deformities and eye signs. Whole exome sequencing revealed that he has harbored a heterozygous c. 1828_1829insGACT (p.Y610fs*1) frameshifting variant of the SOX5 gene. Sanger sequencing confirmed the variant to be de novo in origin. The variant was also unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+ PS2+ PM2_supporting). Conclusion:The c. 1828_1829insGACT (p.Y610fs*1) variant of the SOX5 gene probably underlay the pathogenesis of LAMSHF in this child. For children with delayed mental, language, intellectual, and motor development, genetic testing should be conducted to facilitate early diagnosis. Above finding has enriched the mutational spectrum of the SOX5 gene.

Objective:To evaluate the association between body temperature and duration of mechanical ventilation in the intensive care unit (ICU) among patients after coronary artery bypass grafting (CABG).Methods:Clinical data from patients, aged >18 yr, undergoing primary isolated CABG, between 2008 and 2019, were extracted from the Medical Information Mart for Intensive Care Ⅳ version 2.0 database. Participants were stratified into 3 groups based on the mean body temperature in ICU: hypothermia group (<36.0 ℃), normothermia group (36.0 ℃ ≤ temperature <37.3 ℃), and hyperthermia group (≥37.3 ℃). Multivariable linear regression and linear curve fitting were performed to assess the association between body temperature and duration of mechanical ventilation.Results:A total of 4, 588 patients were finally included in the statistical analysis, including 133 cases in hypothermia group, 4, 177 cases in normothermia group and 278 cases in hyperthermia group. The duration of mechanical ventilation was significantly prolonged in both hypothermia and hyperthermia groups compared with normothermia group ( P<0.05). The results of multivariable linear regression demonstrated that each 1 ℃ increase in body temperature was associated with a 2.43 h reduction in the duration of mechanical ventilation in hypothermia group ( P<0.001), and each 1 ℃ temperature elevation corresponded to a non-significant reduction of 0.12 h in hyperthermia group ( P=0.851). The results of linear curve fitting revealed a U-shaped relationship between body temperature and duration of mechanical ventilation, and an inflection point was identified at 36.71 ℃, with duration of mechanical ventilation prolonged with temperatures either below or above this threshold ( P<0.05). Conclusions:Hypothermia during ICU stay following CABG may lead to prolonged mechanical ventilation in patients.

OBJECTIVE: To explore the clinical features of a child with Lamb-Shaffer syndrome (LAMSHF) due to a variant of SOX5 gene. METHODS: A child who was admitted to Children's Hospital Affiliated to Zhengzhou University in July 2022 was selected as the study subject. Clinical data of the child was collected. Whole exome sequencing (WES) was carried out on peripheral blood samples from the child and his parents, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. The study has been approved by the Medical Ethics Committee of the Children's Hospital Affiliated to Zhengzhou University (Ethics No. 2024-K-100). RESULTS: The child, an one-year-and-seven-month-old male, has manifested delayed development in speech and language, intelligence and movement, in addition with mild facial deformities and eye signs. Whole exome sequencing revealed that he has harbored a heterozygous c.1828_1829insGACT (p.Y610fs*1) frameshifting variant of the SOX5 gene. Sanger sequencing confirmed the variant to be de novo in origin. The variant was also unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+PS2+PM2_supporting). CONCLUSION The c.1828_1829insGACT (p.Y610fs*1) variant of the SOX5 gene probably underlay the pathogenesis of LAMSHF in this child. For children with delayed mental, language, intellectual, and motor development, genetic testing should be conducted to facilitate early diagnosis. Above finding has enriched the mutational spectrum of the SOX5 gene.
Humans ; SOXD Transcription Factors/genetics* ; Male ; Infant ; Exome Sequencing ; Genetic Testing ; Mutation

Objective: : The objective of this study was to assess the relationship between spermine synthase (SMS) expression, tumor occurrence, and prognosis in lower-grade gliomas (LGGs). Methods: : A total of 523 LGG patients and 1152 normal brain tissues were included as controls. Mann-Whitney U test was performed to evaluate SMS expression in the LGG group. Functional annotation analysis was conducted to explore the biological processes associated with high SMS expression. Immune cell infiltration analysis was performed to examine the correlation between SMS expression and immune cell types. The association between SMS expression and clinical and pathological features was assessed using Spearman correlation analysis. In vitro experiments were conducted to investigate the effects of overexpressing or downregulating SMS on cell proliferation, apoptosis, migration, invasion, and key proteins in the protein kinase B (AKT)/epithelialmesenchymal transition signaling pathway. Results: : The study revealed a significant upregulation of SMS expression in LGGs compared to normal brain tissues. High SMS expression was associated with certain clinical and pathological features, including older age, astrocytoma, higher World Health Organization grade, poor disease-specific survival, disease progression, non-1p/19q codeletion, and wild-type isocitrate dehydrogenase. Cox regression analysis identified SMS as a risk factor for overall survival. Bioinformatics analysis showed enrichment of eosinophils, T cells, and macrophages in LGG samples, while proportions of dendritic (DC) cells, plasmacytoid DC (pDC) cells, and CD8+ T cells were decreased. Conclusion : High SMS expression in LGGs may promote tumor occurrence through cellular proliferation and modulation of immune cell infiltration. These findings suggest the prognostic value of SMS in predicting clinical outcomes for LGG patients.

Objective: : The objective of this study was to assess the relationship between spermine synthase (SMS) expression, tumor occurrence, and prognosis in lower-grade gliomas (LGGs). Methods: : A total of 523 LGG patients and 1152 normal brain tissues were included as controls. Mann-Whitney U test was performed to evaluate SMS expression in the LGG group. Functional annotation analysis was conducted to explore the biological processes associated with high SMS expression. Immune cell infiltration analysis was performed to examine the correlation between SMS expression and immune cell types. The association between SMS expression and clinical and pathological features was assessed using Spearman correlation analysis. In vitro experiments were conducted to investigate the effects of overexpressing or downregulating SMS on cell proliferation, apoptosis, migration, invasion, and key proteins in the protein kinase B (AKT)/epithelialmesenchymal transition signaling pathway. Results: : The study revealed a significant upregulation of SMS expression in LGGs compared to normal brain tissues. High SMS expression was associated with certain clinical and pathological features, including older age, astrocytoma, higher World Health Organization grade, poor disease-specific survival, disease progression, non-1p/19q codeletion, and wild-type isocitrate dehydrogenase. Cox regression analysis identified SMS as a risk factor for overall survival. Bioinformatics analysis showed enrichment of eosinophils, T cells, and macrophages in LGG samples, while proportions of dendritic (DC) cells, plasmacytoid DC (pDC) cells, and CD8+ T cells were decreased. Conclusion : High SMS expression in LGGs may promote tumor occurrence through cellular proliferation and modulation of immune cell infiltration. These findings suggest the prognostic value of SMS in predicting clinical outcomes for LGG patients.

Objective: : The objective of this study was to assess the relationship between spermine synthase (SMS) expression, tumor occurrence, and prognosis in lower-grade gliomas (LGGs). Methods: : A total of 523 LGG patients and 1152 normal brain tissues were included as controls. Mann-Whitney U test was performed to evaluate SMS expression in the LGG group. Functional annotation analysis was conducted to explore the biological processes associated with high SMS expression. Immune cell infiltration analysis was performed to examine the correlation between SMS expression and immune cell types. The association between SMS expression and clinical and pathological features was assessed using Spearman correlation analysis. In vitro experiments were conducted to investigate the effects of overexpressing or downregulating SMS on cell proliferation, apoptosis, migration, invasion, and key proteins in the protein kinase B (AKT)/epithelialmesenchymal transition signaling pathway. Results: : The study revealed a significant upregulation of SMS expression in LGGs compared to normal brain tissues. High SMS expression was associated with certain clinical and pathological features, including older age, astrocytoma, higher World Health Organization grade, poor disease-specific survival, disease progression, non-1p/19q codeletion, and wild-type isocitrate dehydrogenase. Cox regression analysis identified SMS as a risk factor for overall survival. Bioinformatics analysis showed enrichment of eosinophils, T cells, and macrophages in LGG samples, while proportions of dendritic (DC) cells, plasmacytoid DC (pDC) cells, and CD8+ T cells were decreased. Conclusion : High SMS expression in LGGs may promote tumor occurrence through cellular proliferation and modulation of immune cell infiltration. These findings suggest the prognostic value of SMS in predicting clinical outcomes for LGG patients.

Objective: : The objective of this study was to assess the relationship between spermine synthase (SMS) expression, tumor occurrence, and prognosis in lower-grade gliomas (LGGs). Methods: : A total of 523 LGG patients and 1152 normal brain tissues were included as controls. Mann-Whitney U test was performed to evaluate SMS expression in the LGG group. Functional annotation analysis was conducted to explore the biological processes associated with high SMS expression. Immune cell infiltration analysis was performed to examine the correlation between SMS expression and immune cell types. The association between SMS expression and clinical and pathological features was assessed using Spearman correlation analysis. In vitro experiments were conducted to investigate the effects of overexpressing or downregulating SMS on cell proliferation, apoptosis, migration, invasion, and key proteins in the protein kinase B (AKT)/epithelialmesenchymal transition signaling pathway. Results: : The study revealed a significant upregulation of SMS expression in LGGs compared to normal brain tissues. High SMS expression was associated with certain clinical and pathological features, including older age, astrocytoma, higher World Health Organization grade, poor disease-specific survival, disease progression, non-1p/19q codeletion, and wild-type isocitrate dehydrogenase. Cox regression analysis identified SMS as a risk factor for overall survival. Bioinformatics analysis showed enrichment of eosinophils, T cells, and macrophages in LGG samples, while proportions of dendritic (DC) cells, plasmacytoid DC (pDC) cells, and CD8+ T cells were decreased. Conclusion : High SMS expression in LGGs may promote tumor occurrence through cellular proliferation and modulation of immune cell infiltration. These findings suggest the prognostic value of SMS in predicting clinical outcomes for LGG patients.

Cerebral proliferative angiopathy(CPA)was initially regarded as a variant of arteriovenous malformation.However,its distinct histological,angiographic,and pathophysiological features have led to its reclassification as an independent entity.CPA is an exceptionally rare form of cerebral vascular malformation,its pathogenesis is primarily linked to diffuse vascular proliferation secondary to chronic hypoperfusion.Clinically,CPA presents with a heterogeneous spectrum of manifestations,most commonly severe headaches and epileptic seizures.Neuroimaging(MR)typically reveals a complex interplay of aberrant vessels within the brain parenchyma,which may complicate the clinical management and lead to a higher rate of poor prognosis.This article reviewed current knowledge on the pathogenesis,epidemiology,clinical features,diagnostic approaches,and treatment options for CPA,with the aim of enhancing understanding of its underlying mechanisms and guiding future therapeutic strategy optimizations.

Objective:To investigate the selenium levels in hair, grain, and soil samples collected from residents in typical Keshan disease (KD) endemic and non-endemic areas of Yunnan Province and Inner Mongolia Autonomous Region (referred to as Inner Mongolia), and to provide basic data for evaluating the effectiveness of KD prevention and control strategies.Methods:In 2018, one county with a history of severe KD and one non-endemic county with a similar environment were selected from each of Yunnan Province and Inner Mongolia. Within each county, one natural village was selected as the survey site. Ten soil samples were collected from each village. Ten households were stratified based on their annual per capita income levels of low, medium, and high (3, 4, 3 households, respectively). Three samples of hair and three samples of grain were collected from each household, and selenium level was measured using hydride atomic fluorescence spectrometry.Results:A total of 118 hair samples, 125 grain samples, and 39 soil samples were collected. The selenium levels in the hair of residents from KD endemic areas were significantly lower than those from non-endemic areas within the same province ( P < 0.05), and there was no statistically significant difference in selenium levels in grain and soil ( P > 0.05). The selenium level in the hair of residents in Yunnan Province [0.36 (0.31, 0.41) mg/kg] was higher than that in Inner Mongolia [0.31 (0.25, 0.35) mg/kg, Z = - 3.87, P < 0.001]. The proportion of sufficient hair selenium levels (≥0.30 mg/kg) was 86.7% (52/60) in Yunnan Province and 55.2% (32/58) in Inner Mongolia, with a statistically significant difference (χ 2 = 14.26, P < 0.001). Selenium levels in grain and soil in Yunnan Province were lower than those in Inner Mongolia ( P < 0.001). The proportion of sufficient grain selenium levels (> 0.02 mg/kg) was 5.7% (4/70) in Yunnan Province and 12.7% (7/55) in Inner Mongolia, with a significant difference (χ 2 = 11.88, P = 0.003). The selenium levels in soil in both provinces reached the sufficient level (≥0.20 mg/kg). Conclusions:The selenium levels in the population of KD endemic areas are lower than those in non-endemic regions, and the selenium deficiency among residents in Inner Mongolia is more prominent than in Yunnan Province. The selenium levels in Inner Mongolia's grain and soil are higher than those in Yunnan Province. In the future prevention and control of KD attention should be paid to monitoring the selenium nutrition level of the population in KD areas, especially in Inner Mongolia areas located in the north.

Objective:To evaluate the association between body temperature and duration of mechanical ventilation in the intensive care unit (ICU) among patients after coronary artery bypass grafting (CABG).Methods:Clinical data from patients, aged >18 yr, undergoing primary isolated CABG, between 2008 and 2019, were extracted from the Medical Information Mart for Intensive Care Ⅳ version 2.0 database. Participants were stratified into 3 groups based on the mean body temperature in ICU: hypothermia group (<36.0 ℃), normothermia group (36.0 ℃ ≤ temperature <37.3 ℃), and hyperthermia group (≥37.3 ℃). Multivariable linear regression and linear curve fitting were performed to assess the association between body temperature and duration of mechanical ventilation.Results:A total of 4, 588 patients were finally included in the statistical analysis, including 133 cases in hypothermia group, 4, 177 cases in normothermia group and 278 cases in hyperthermia group. The duration of mechanical ventilation was significantly prolonged in both hypothermia and hyperthermia groups compared with normothermia group ( P<0.05). The results of multivariable linear regression demonstrated that each 1 ℃ increase in body temperature was associated with a 2.43 h reduction in the duration of mechanical ventilation in hypothermia group ( P<0.001), and each 1 ℃ temperature elevation corresponded to a non-significant reduction of 0.12 h in hyperthermia group ( P=0.851). The results of linear curve fitting revealed a U-shaped relationship between body temperature and duration of mechanical ventilation, and an inflection point was identified at 36.71 ℃, with duration of mechanical ventilation prolonged with temperatures either below or above this threshold ( P<0.05). Conclusions:Hypothermia during ICU stay following CABG may lead to prolonged mechanical ventilation in patients.