Browse
You are looking at 11 - 20 of 1,472 items for
Search for other papers by Zeting Li in
Google Scholar
PubMed
Search for other papers by Ling Pei in
Google Scholar
PubMed
Search for other papers by Huangmeng Xiao in
Google Scholar
PubMed
Search for other papers by Nan Chen in
Google Scholar
PubMed
Search for other papers by Fenghua Lai in
Google Scholar
PubMed
Search for other papers by Shufang Yue in
Google Scholar
PubMed
Search for other papers by Changliu Xu in
Google Scholar
PubMed
Search for other papers by Yanbing Li in
Google Scholar
PubMed
Search for other papers by Haipeng Xiao in
Google Scholar
PubMed
Search for other papers by Xiaopei Cao in
Google Scholar
PubMed
Glucose-like peptide-1 (GLP-1) is a vital hormone in the intestines that regulates glucose metabolism. Although pancreatic-derived factor (PANDER) overexpression is known to suppress GLP-1, the underlying mechanisms are unclear. Our study aims to uncover how PANDER influences GLP-1 synthesis and secretion. We established a PANDER overexpression model in STC-1 intestinal cells, confirming its inhibitory effect on GLP-1 secretion. This effect was reversed in PANDER-knockout cells. Additionally, a negative correlation between PANDER and GLP-1 was observed in patients with a history of gestational diabetes. Subsequently, through whole transcriptome gene sequencing in PANDER-overexpressed STC-1 cells, we discovered that the activation of IL-6 and its related STAT3 signaling pathway was significantly inhibited, and this finding was validated by Western blotting and quantitative reverse transcription PCR. Finally, rescue experiments confirmed that the IL-6-related STAT3/Akt/GSK3β/β-catenin signaling pathway mediates the negative regulatory effect of PANDER on GLP-1. Taken together, our data identify IL-6 as a bridge connecting PANDER and GLP-1 in the STC-1 cells, demonstrating potential therapeutic targets for diabetes treatment by targeting the PANDER–IL-6–GLP-1 axis.
Search for other papers by Tianze Ding in
Google Scholar
PubMed
Search for other papers by Peijie Liu in
Google Scholar
PubMed
Search for other papers by Jie Jia in
Google Scholar
PubMed
Search for other papers by Hui Wu in
Google Scholar
PubMed
Search for other papers by Jie Zhu in
Google Scholar
PubMed
Search for other papers by Kefeng Yang in
Google Scholar
PubMed
Introduction: Gestational diabetes mellitus (GDM) significantly affects pregnancy outcomes. Therefore, it is crucial to develop prediction models since they can guide timely interventions to reduce the incidence of GDM and its associated adverse effects.
Methods: A total of 554 pregnant women were selected and their sociodemographic characteristics, clinical data and dietary data were collected. Dietary data was investigated by a validated semi-quantitative food frequency questionnaire (FFQ). We applied random forest mean decrease impurity for feature selection and the models are built using Logistic Regression, XGBoost, and LightGBM algorithms. The prediction performance of different models was compared by Accuracy, Sensitivity, Specificity, Area Under Curve (AUC) and Hosmer-Lemeshow test.
Results: Blood glucose, age, pre-pregnancy body mass index (BMI), triglycerides and high-density lipoprotein cholesterol (HDL) were the top five features according to the feature selection. Among the three algorithms, XGBoost performed best with an AUC of 0.788, LightGBM came second (AUC = 0.749), and Logistic Regression performed the worst (AUC = 0.712). In addition, XGBoost and LightGBM both achieved a fairly good performance when dietary information was included, surpassing their performance on the non-dietary dataset (0.788 vs. 0.718 in XGBoost; 0.749 vs. 0.726 in LightGBM).
Conclusion: XGBoost and LightGBM algorithms outperform Logistic Regression in predicting GDM among the Chinese pregnant women. In addition, dietary data may have a positive effect on improving model performance, which deserves more in-depth investigation with larger sample size.
Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital, University Medical Center, Lundlaan, EA Utrecht, The Netherlands
Search for other papers by I M A A van Roessel in
Google Scholar
PubMed
Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital, University Medical Center, Lundlaan, EA Utrecht, The Netherlands
Search for other papers by J E Gorter in
Google Scholar
PubMed
Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital, University Medical Center, Lundlaan, EA Utrecht, The Netherlands
Search for other papers by B Bakker in
Google Scholar
PubMed
Wilhelmina Children’s Hospital, University Medical Center, Lundlaan, EA Utrecht, The Netherlands
Search for other papers by M M van den Heuvel-Eibrink in
Google Scholar
PubMed
Department of Radiology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands
Search for other papers by M H Lequin in
Google Scholar
PubMed
Search for other papers by J van der Lugt in
Google Scholar
PubMed
Search for other papers by L Meijer in
Google Scholar
PubMed
Search for other papers by A Y N Schouten-van Meeteren in
Google Scholar
PubMed
Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital, University Medical Center, Lundlaan, EA Utrecht, The Netherlands
Search for other papers by H M van Santen in
Google Scholar
PubMed
Objective
Children with a supratentorial midline low-grade glioma (LGG) may be at risk for impaired bone health due to hypothalamic-pituitary dysfunction, obesity, exposure to multiple treatment modalities, and/or decreased mobility. The presence of impaired bone health and/or its severity in this population has been understudied. We aimed to identify the prevalence and risk factors for bone problems in children with supratentorial midline LGG.
Materials and methods
A retrospective study was performed in children with supratentorial midline (suprasellar or thalamic) LGG between 1 January 2003 and 1 January 2022, visiting the Princess Máxima Center for Pediatric Oncology. Impaired bone health was defined as the presence of vertebral fractures and/or very low bone mineral density (BMD).
Results
In total, 161 children were included, with a median age at tumor diagnosis of 4.7 years (range: 0.1–17.9) and a median follow-up of 6.1 years (range: 0.1–19.9). Five patients (3.1%) had vertebral fractures. In 99 patients, BMD was assessed either by Dual Energy X-ray Absorptiometry (n = 12) or Bone Health Index (n = 95); 34 patients (34.3%) had a low BMD (≤ −2.0). Impaired visual capacity was associated with bone problems in multivariable analysis (OR: 6.63, 95% CI: 1.83–24.00, P = 0.004).
Conclusion
In this retrospective evaluation, decreased BMD was prevalent in 34.3% of children with supratentorial midline LGG. For the risk of developing bone problems, visual capacity seems highly relevant. Surveillance of bone health must be an aspect of awareness in the care and follow-up of children with a supratentorial midline LGG.
Significance statement
Patients with supratentorial midline LGG may encounter various risk factors for impaired bone health. Bone problems in survivors of childhood supratentorial midline LGG are, however, understudied. This is the first paper to address the prevalence of bone problems in this specific patient population, revealing visual problems as an important risk factor. Diencephalic syndrome historyand/or weight problems associated with hypothalamic dysfunction were related to bone problems in univariate analyses. The results of this study can be used in the development of guidelines to adequately screen and treat these patients to subsequently minimizing bone problems as one of the endocrine complications.
Search for other papers by Jian Gong in
Google Scholar
PubMed
Search for other papers by Yinjuan Lv in
Google Scholar
PubMed
Search for other papers by Yuhao Meng in
Google Scholar
PubMed
Search for other papers by Weiheng Zhang in
Google Scholar
PubMed
Search for other papers by Xiaocui Jiang in
Google Scholar
PubMed
Search for other papers by Min Xiao in
Google Scholar
PubMed
Prenatal stress can lead to the programming of the neuroendocrine system in male offspring, disrupting the hypothalamic testicular axis and adversely affecting the reproductive health of male offspring. This study aimed to determine the long-term effects of prenatal stress on the KISS1 system in male offspring and the effects on reproductive function in male offspring. Sixteen pregnant females were divided into a prenatal control group (PC, n = 8) and a prenatal stress group (PS, n = 8). The PS group was modeled with chronic unpredictable mild stress (CUMS) from day 1 of gestation to full-term delivery. Differences between the two groups in various maternal parameters, including glucocorticoid secretion, litter size, and the effects of male offspring birth weight, the KISS1 system, and reproductive function, were determined. Male offspring of PS dams had lower birth weights compared to prenatal controls.KISS1 gene expression is reduced at birth and in adult PS offspring, and its receptor KISS1-R protein is similarly reduced in PS offspring at birth and adulthood. In adulthood, PS male offspring show significantly reduced sex hormone production, altered testicular morphology, reduced maturation of their supporting cells, and decreased expression of connexin 43 (CX43), leading to an altered sperm microenvironment and reduced sperm quality. In conclusion, prenatal stress leads to adverse changes in the KISS1 system in male offspring and decreased reproductive function.
Department of Health Sciences, University of Florence, Florence, Italy
Search for other papers by Alessandro Barbato in
Google Scholar
PubMed
Search for other papers by Giulia Gori in
Google Scholar
PubMed
Search for other papers by Michele Sacchini in
Google Scholar
PubMed
Search for other papers by Francesca Pochiero in
Google Scholar
PubMed
Search for other papers by Sara Bargiacchi in
Google Scholar
PubMed
Search for other papers by Giovanna Traficante in
Google Scholar
PubMed
Search for other papers by Viviana Palazzo in
Google Scholar
PubMed
Search for other papers by Lucia Tiberi in
Google Scholar
PubMed
Search for other papers by Claudia Bianchini in
Google Scholar
PubMed
Search for other papers by Davide Mei in
Google Scholar
PubMed
Search for other papers by Elena Parrini in
Google Scholar
PubMed
Search for other papers by Tiziana Pisano in
Google Scholar
PubMed
Search for other papers by Elena Procopio in
Google Scholar
PubMed
NEUROFARBA Department, University of Florence, Florence, Italy
Search for other papers by Renzo Guerrini in
Google Scholar
PubMed
Department of Clinical and Experimental Biomedical Sciences “Mario Serio”, University of Florence, Florence, Italy
Search for other papers by Angela Peron in
Google Scholar
PubMed
Department of Health Sciences, University of Florence, Florence, Italy
Search for other papers by Stefano Stagi in
Google Scholar
PubMed
Context
Cytochrome C oxidase (COX) is the fourth component of the respiratory chain and is located within the internal membrane of mitochondria. COX deficiency causes an inherited mitochondrial disease with significant genetic and phenotypic heterogeneity. Four clinical subtypes have been identified, each with distinct phenotypes and genetic variants. Mitochondrial complex IV deficiency nuclear type 4 (MC4DN4) is a form of COX deficiency associated with pathogenic variants in the SCO1 gene.
Case description
We describe three patients with MC4DN4 with developmental and epileptic encephalopathy (DEE), hypopituitarism, and SCO1 pathogenic variants. These patients’ phenotypes considerably differ from previously reported MC4DN4 phenotypes as they associate DEE with progressive hypopituitarism and survival beyond the first months after birth. Pituitary deficiency in these patients progressively worsened and mainly involved growth hormone secretion and thyroid function.
Conclusions
Our findings expand knowledge of phenotypic variability in MC4DN4 and suggest that SCO1 is a candidate gene for genetic hypopituitarism and DEE.
Significance statement
Our paper describes three patients affected by MC4DN4 with hypopituitarism and developmental and epileptic encephalopathy (DEE), two features that have never been associated with this condition. In addition, we reviewed the clinical features of all previous cases of MC4DN4 to give the other clinicians a wide picture of the clinical phenotype of this genetic disease. We hope that the publication of our data may help others to identify this disease and consider the chance to analyze the SCO1 gene in cases of DEE associated with pituitary dysfunction. Our article contributes to expanding the spectrum of genetic hypopituitarism and proposes a model to explain an association between this condition, mitochondrial anomalies, and neurodevelopmental defects.
Search for other papers by Lukas Plachy in
Google Scholar
PubMed
Search for other papers by Petra Dusatkova in
Google Scholar
PubMed
Search for other papers by Klara Maratova in
Google Scholar
PubMed
Search for other papers by Shenali Anne Amaratunga in
Google Scholar
PubMed
Search for other papers by Dana Zemkova in
Google Scholar
PubMed
Search for other papers by Vit Neuman in
Google Scholar
PubMed
Search for other papers by Stanislava Kolouskova in
Google Scholar
PubMed
Search for other papers by Barbora Obermannova in
Google Scholar
PubMed
Search for other papers by Marta Snajderova in
Google Scholar
PubMed
Search for other papers by Zdenek Sumnik in
Google Scholar
PubMed
Search for other papers by Jan Lebl in
Google Scholar
PubMed
Search for other papers by Stepanka Pruhova in
Google Scholar
PubMed
Because the causes of combined pituitary hormone deficiency (CPHD) are complex, the etiology of congenital CPHD remains unknown in most cases. The aim of the study was to identify the genetic etiology of CPHD in a well-defined single-center cohort. In total, 34 children (12 girls) with congenital CPHD (growth hormone (GH) deficiency and impaired secretion of at least one other pituitary hormone) treated with GH in our center were enrolled in the study. Their median age was 11.2 years, pre-treatment height was −3.2 s.d., and maximal stimulated GH was 1.4 ug/L. Of them, 30 had central adrenal insufficiency, 27 had central hypothyroidism, ten had hypogonadotropic hypogonadism, and three had central diabetes insipidus. Twenty-six children had a midline defect on MRI. Children with clinical suspicion of a specific genetic disorder underwent genetic examination of the gene(s) of interest via Sanger sequencing or array comparative genomic hybridization. Children without a detected causal variant after the first-tier testing or with no suspicion of a specific genetic disorder were subsequently examined using next-generation sequencing growth panel. Variants were evaluated by the American College of Medical Genetics standards. Genetic etiology was confirmed in 7/34 (21%) children. Chromosomal aberrations were found in one child (14q microdeletion involving the OTX2 gene). The remaining 6 children had causative genetic variants in the GLI2, PROP1, POU1F1, TBX3, PMM2, and GNAO1 genes, respectively. We elucidated the cause of CPHD in a fifth of the patients. Moreover, our study supports the PMM2 gene as a candidate gene for CPHD and suggests pathogenic variants in the GNAO1 gene as a potential novel genetic cause of CPHD.
Search for other papers by Budoor Alemadi in
Google Scholar
PubMed
Search for other papers by Fauzia Rashid in
Google Scholar
PubMed
Search for other papers by Ali Alzahrani in
Google Scholar
PubMed
Primary hyperparathyroidism has emerged as a prevalent endocrine disorder in clinical settings, necessitating in most cases, surgical intervention for the removal of the diseased gland. This condition is characterised by overactivity of the parathyroid glands, resulting in excessive parathyroid hormone production and subsequent disturbances in calcium homeostasis. The primary mode of management is surgical treatment, relying on the accurate localisation of the pathological parathyroid gland. Precise identification is paramount to ensuring that the surgical intervention effectively targets and removes the diseased gland, alleviating the hyperfunctioning state. However, localising the gland becomes challenging, as discrepancies between the clinical manifestation of active parathyroid and radiological identification are common. Based on our current knowledge, to date, no comprehensive review has been conducted that considers all factors collectively. This comprehensive review delves into the factors contributing to false-negative 99mTc-Sestamibi scans. Our research involved an exhaustive search in the PubMed database for hyperparathyroidism, with the identified literature meticulously filtered and reviewed by the authors. The results highlighted various factors, including multiple parathyroid diseases, nodular goitre, mild disease, or the presence of an ectopic gland that causes discordance. Hence, a thorough consideration of these factors is crucial during the diagnostic workup of hyperparathyroidism. Employing intraoperative PTH assays can significantly contribute to a successful cure of the disease, thereby providing a more comprehensive approach to managing this prevalent endocrine disorder.
Search for other papers by Shams Ali Baig in
Google Scholar
PubMed
Search for other papers by Kashish Malhotra in
Google Scholar
PubMed
Search for other papers by Mukunth Kowsik in
Google Scholar
PubMed
Search for other papers by Josh Banerjee in
Google Scholar
PubMed
Search for other papers by Fazna Rahman in
Google Scholar
PubMed
Search for other papers by Ashmethaa Ashokkumar in
Google Scholar
PubMed
Search for other papers by Caroline Gillett in
Google Scholar
PubMed
Search for other papers by Punith Kempegowda in
Google Scholar
PubMed
Objectives: To investigate the utility and effectiveness of a school outreach programme in areas of lower socioeconomic status to improve understanding of common endocrine topics and the medical profession.
Methods: Two secondary school outreach sessions were conducted in July 2022. Students were invited to attend lectures delivered by medical professionals and engage in poster-making sessions using the knowledge they had gained throughout the day. Participants completed anonymised pre- and post-session surveys. Outcomes were identified using Kirkpatrick’s training evaluation model. Self-reported perceptions and beliefs (Kirkpatrick’s Level 2a) were compared using chi-square tests. Thematic analysis of team-led poster presentations was performed.
Results: Of the 254 participants included, the response rates of pre- and post-session questionnaires were 75.6% and 56.2%, respectively. The outreach day increased students’ understanding of Obesity and Diabetes, PCOS, and Health Technology. The most well-received activities from the outreach day were voted to be the poster challenge (43.4%) and poster presentation (14.7%). Following the session, there was a trend towards an increased understanding of medical careers and interest in pursuing a medical career, although these did not reach statistical significance.
Conclusions: Outreach programmes could be a practical and effective approach to engaging prospective medical applicants from areas of lower socioeconomic status. Further studies are required to expand outreach programmes to investigate the efficacy of school engagement programmes.
Search for other papers by Weiwei Liang in
Google Scholar
PubMed
Search for other papers by Junxin Chen in
Google Scholar
PubMed
Search for other papers by Hai Li in
Google Scholar
PubMed
Search for other papers by Pengyuan Zhang in
Google Scholar
PubMed
Search for other papers by Hongyu Guan in
Google Scholar
PubMed
Search for other papers by Yanbing Li in
Google Scholar
PubMed
Background: Collagen type VIII α 1 chain (COL8A1), a collagen type VIII protein, has been suggested to exert various functions in progression of multiple cancers. However, the effect of COL8A1 in papillary thyroid cancer (PTC) has not been elucidated.
Methods: The Cancer Genome Atlas (TCGA) databases were applied to investigate the COL8A1 expression and its clinical significance in PTC. The COL8A1 expression level was further validated using Gene Expression Omnibus (GEO) data and clinical paired PTC tissues. Additionally, Kaplan-Meier curve was used to analyze the prognosis. The cell migrative and invasive abilities were evaluated by wound healing assay and Transwell assay. CCK8 assays were used to evaluate proliferation of PTC cells. Western blotting was conducted to explore the potential mechanisms involved in the pro-tumor role of COL8A1. The correlation between immune cell infiltration and COL8A1 was analyzed using Tumor Immune Estimation Resource (TIMER) database and the single-sample GSEA (ssGSEA) method.
Results: We found that COL8A1 was upregulated in PTC (P<0.05). High COL8A1 expression level was significantly associated with advanced T stage (P<0.01), N stage (P<0.001) and poor prognosis (P=0.0142) in PTC. Furthermore, cell migration and invasion were significantly reduced following COL8A1 knockdown (P<0.001). Mechanistic studies demonstrated that the epithelial-to-mesenchymal transition (EMT) related proteins (FN1, MMP9, MMP7, ZEB2 and Twist1) and phosphorylation of AKT and ERK were obviously down-regulated after COL8A1 knockdown (P<0.01). Moreover, COL8A1 expression was correlated with immune cell infiltration.
Conclusion: Our study demonstrates that COL8A1 may function as an oncogene and a potential prognostic biomarker for PTC patients.
Laboratory of Biotechnology, Environment, Food, and Health, Faculty of Sciences Dhar El Mahraz, Sidi Mohammed Ben Abdellah University, Fez, Morocco
Search for other papers by Mohamed Hssaini in
Google Scholar
PubMed
Search for other papers by Sana Abourazzak in
Google Scholar
PubMed
Search for other papers by Ihsane El Otmani in
Google Scholar
PubMed
Search for other papers by Mohamed Ahakoud in
Google Scholar
PubMed
Search for other papers by Amina Ameli in
Google Scholar
PubMed
Search for other papers by Laila Bouguenouch in
Google Scholar
PubMed
Search for other papers by Hicham Bekkari in
Google Scholar
PubMed
Background
Differences/disorders of sex development (DSD) encompass a wide range of conditions. Their clinical spectrum and etiological diagnosis have not been reported in Moroccan patients.
Aims
The study aims to highlight the clinical spectrum, etiological diagnosis, and management of patients with DSD.
Subjects and methods
This is a retrospective study of all patients diagnosed with DSD under the age of 18 years, who were referred to the Pediatric Endocrinology Department and the Medical Genetics Laboratory at HASSAN II University Hospital of Fez between June 2018 and June 2023.
Results
Out of 57 patients, 54.4% (n = 31) were diagnosed with 46,XX DSD, the most common type, while 45.6% (n = 26) had 46,XY DSD. Patients with 46,XX DSD presented earlier than those with 46,XY DSD, at a median age of 0.08 years and 0.96 years, respectively. The most commonly reported complaint was atypical genitalia. At the first presentation, the sex of rearing was already assigned to 26 males and 27 females. All patients with 46,XX DSD were diagnosed with congenital adrenal hyperplasia (CAH) at a median age of diagnosis of 0.92 years. Of these, 11 patients were raised as males. Disorders of androgen action or synthesis were more common in XY patients (69.2%). The consanguinity rate was 46.5%, and there were 19 cases with a positive family history, with 10 siblings having died.
Conclusion
DSD are not rare in Morocco. Overall, CAH remains the most frequent DSD etiology. Molecular genetic analyses are needed to determine the accurate etiological distribution of DSD, especially in XY patients.