Browse
You are looking at 21 - 30 of 1,481 items for
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 Jindong Wan in
Google Scholar
PubMed
Search for other papers by Sen Liu in
Google Scholar
PubMed
Search for other papers by Tao Luo in
Google Scholar
PubMed
Search for other papers by Yi Yang in
Google Scholar
PubMed
Search for other papers by Dan Wang in
Google Scholar
PubMed
Search for other papers by Xinquan Wang in
Google Scholar
PubMed
Search for other papers by Peng Zhou in
Google Scholar
PubMed
Search for other papers by Jixin Hou in
Google Scholar
PubMed
Search for other papers by Peijian Wang in
Google Scholar
PubMed
Background: Primary aldosteronism (PA) is a prevalent cause of endocrine hypertension characterized by an excess of aldosterone that can induce proinflammatory, prooxidant, and profibrotic effects on the heart. Emerging evidence indicates a heightened incidence of atrial fibrillation (AF) in patients with PA, suggesting a significant association between the two conditions. However, the underlying mechanisms remain unclear. The purpose of this study was to investigate the molecular networks associated with the development of both PA and AF.
Methods: Datasets were obtained from the Gene Expression Omnibus (GEO) database. Hub genes were identified by enrichment and protein‒protein interaction analysis. These hub genes were subsequently validated via two independent external datasets: GSE60042 and GSE41177. Following the identification of shared genes, quantitative real-time polymerase chain reaction (qPCR) was employed to verify the reliability of the dataset and to further confirm the presence of shared genes in clinical samples.
Results: The results of the common gene analysis revealed that immune and inflammatory responses may be shared features in the pathophysiology of PA and AF. One hub gene, specifically tumor necrosis factor superfamily member 10 (TNFSF10), was identified through various analyses and subsequently validated via qPCR. Compared with that in healthy controls, the expression level of TNFSF10 was lower in PA patients with AF.
Conclusion: Our findings indicate that TNFSF10 may play a role in the pathophysiology of AF complications associated with PA conditions, suggesting that it could serve as a potential target for the diagnosis or treatment of PA patients complicated with AF.
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.
Search for other papers by Tal Almagor in
Google Scholar
PubMed
Search for other papers by Shlomo Almashanu in
Google Scholar
PubMed
Search for other papers by Ghadir Elias Assad in
Google Scholar
PubMed
Search for other papers by Osnat Admoni in
Google Scholar
PubMed
Search for other papers by Hanna Ludar in
Google Scholar
PubMed
Search for other papers by Shira London in
Google Scholar
PubMed
Search for other papers by Shoshana Rath in
Google Scholar
PubMed
Search for other papers by Alina German in
Google Scholar
PubMed
Search for other papers by Naama Schwartz in
Google Scholar
PubMed
Search for other papers by Yardena Tenenbauim Rakover in
Google Scholar
PubMed
Objectives: The incidence of congenital hypothyroidism (CH) has increased worldwide over the last decades mainly due to the lowering of screening thresholds, resulting in an increased identification of newborns with transient CH. Several studies reported the prevalence and the predictive parameters of transient CH but reports on the long-term outcome are rare. This study aimed to assess the long-term course of neonates with transient CH.
Design: Neonates diagnosed with transient and permanent CH between the years 1998 to 2018 at the Pediatric Endocrine Institute of Ha'Emek Medical Center were enrolled in the study. Data were retrieved retrospectively from medical files.
Results: Included in the study were 76 newborns (45M,59%) with transient CH and 53 (25M,47%) with permanent CH. The major cause of transient CH was prematurity (29%) and subclinical hypothyroidism (30%). During retrospective follow-ups of up to 23 years, reinitiation of LT4 therapy was not required apart from four patients with underlying syndromic etiologies. Neurodevelopmental impairment occurred in 16% of children with transient CH compared with 29.4% in the permanent CH group.
Conclusions: Transient CH is frequent among preterm infants but is limited to infancy. SCH frequently presents as overt hypothyroidism at birth but in most cases the requirement for LT4 supplemental therapy is limited to the first years of life, suggesting that long-term follow-up of thyroid function tests may be unnecessary for non-syndromic children. The high rate of neurodevelopmental impairment in newborns with transient CH emphasizes the need for neurodevelopmental monitoring in these patients.
Search for other papers by Mari Drabløs in
Google Scholar
PubMed
Search for other papers by Hilde Risstad in
Google Scholar
PubMed
Search for other papers by Patji Alnæs-Katjavivi in
Google Scholar
PubMed
Search for other papers by Elisabeth Qvigstad in
Google Scholar
PubMed
Objective: Increasing numbers of pregnancies are complicated by pregestational diabetes mellitus, especially type-2 diabetes. Some studies have reported similar or greater risk of adverse pregnancy outcomes among women with type-2 diabetes (T2DM) relative to type 1 diabetes (T1DM). We aimed to compare the risk of four pregnancy complications: pre-eclampsia, preterm delivery, macrosomia, and perinatal mortality, in pregnant women with T2DM versus T1DM in high-income countries.
Design: Systematic review with meta-analyses.
Methods: Systematic literature searches in Medline and Embase were performed. We included observational studies with original data of outcome occurrence in both women with pregestational T2DM and T1DM. Two researchers independently evaluated full-text studies for inclusion and assessed risk of bias using the Newcastle-Ottawa scale. Finally, we performed four meta-analyses.
Results: We included 35 publications in total. Meta-analyses demonstrated that, compared to T1DM, having T2DM was associated with lower risk of pre-eclampsia (risk ratio 0.76; 95% CI: 0.68-0.85), preterm delivery (risk ratio 0.69; 95% CI: 0.62-0.77) and macrosomia (risk ratio 0.75; 95% CI: 0.60-0.94). Perinatal mortality was more likely in pregnancies with T2DM (risk ratio 1.26; 95% CI: 1.06-1.50).
Conclusion: Summation of the research literature demonstrated that, compared to T1DM, women with T2DM had lower risk of pre-eclampsia, preterm delivery and macrosomia, and higher risk of perinatal mortality.
Diabetes and Endocrine Unit, National Hospital, Kandy, Sri Lanka
Search for other papers by G Amiyangoda in
Google Scholar
PubMed
Search for other papers by C N Antonypillai in
Google Scholar
PubMed
Search for other papers by S S C Gunatilake in
Google Scholar
PubMed
Search for other papers by T T Weerathunge in
Google Scholar
PubMed
Search for other papers by D Ediriweera in
Google Scholar
PubMed
Search for other papers by S G P D Kosgallana in
Google Scholar
PubMed
Search for other papers by R D P Jayawardana in
Google Scholar
PubMed
Search for other papers by H A N D Thissera in
Google Scholar
PubMed
Search for other papers by W J Emalka in
Google Scholar
PubMed
Search for other papers by H U Daraniyagala in
Google Scholar
PubMed
Refractory hypothyroidism is associated with high morbidity and increased healthcare expenditure. In general, the use of the levothyroxine absorption test looks promising in evaluating refractory hypothyroidism but has shown significant variability in protocols in multiple settings. We intended to assess the usefulness of the levothyroxine absorption test in a low-resource setting and to assess the factors associated with refractory hypothyroidism. A cross-sectional study among age-matched 25 cases of refractory hypothyroidism and 24 treatment-responsive hypothyroid controls was conducted. A supervised levothyroxine absorption test was performed with levothyroxine 1000 μg tablets after a 10-h fast, and serum free tetraiodothyronine (FT4) levels were measured at 0, 1, 2, 3, 4, and 5 h. Descriptive statistics, chi-square test, Student’s t-test, and logistic regression were used in the analysis. Results showed no significant difference in age, body weight, etiology of hypothyroidism, interfering medications, thyroxine storage, and ingestion technique in cases and controls. Cases had a longer duration of hypothyroidism and males had a higher peak FT4 concentration. During pooled analysis, serum FT4 peaked at 3 h with an increment of 149.4% (128.4–170.5%) from baseline and plateaued thereafter. The absolute value of FT4 at 3 h was 41.59 (s.d. 14.14) pmol/L (3.23 ng/dL). We concluded that there was no significant difference in the pattern of levothyroxine absorption in both groups. The most common cause of refractory disease was pseudo-malabsorption. Rapid supervised levothyroxine absorption test with two blood samples for FT4 at baseline and at the peak of absorption (3 h) is simple, convenient, and cost-effective, particularly in low-resource settings.