Editorial: Autoimmune Thyroid Pathology-Specificity of the Pediatric Age.
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ABSTRACT:
SUBMITTER: Wasniewska MG
PROVIDER: S-EPMC7892775 | biostudies-literature | 2021
REPOSITORIES: biostudies-literature
Publications
Editorial: Autoimmune Thyroid Pathology-Specificity of the Pediatric Age.
Wasniewska Malgorzata Gabriela MG Gawlik Aneta Monika AM Aversa Tommaso T
Frontiers in endocrinology 20210205
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Project description:Despite a more advanced stage of disease at presentation, a better response to radioiodine (RAI) therapy and a reduced overall mortality have been reported in pediatric differentiated thyroid cancer (DTC) in comparison to adult DTC. Few studies suggested that the better response to RAI therapy in pediatric patients might be associated with an increased expression of NIS. However, a marked heterogeneity within the pediatric group has been recognized. Children (<10 years old) usually present a more aggressive disease than adolescents (≥10-18 years old). By analyzing the expression of thyroid-specific genes in 38 sporadic pediatric tumors, we show that the expression of NIS, PDS, and TSHR was lower in children than adolescents (P < 0.05). A linear regression confirmed the association between NIS expression and age. Most significantly, NIS was expressed at similar levels in DTC from children and adults, whereas PDS and TSHR expression was even lower in DTC from children, compared to adolescents and adults. Our data suggest that biological behaviors of DTC in adolescents might differ from those in children and adults. Therefore, the premise that the expression of thyroid-specific genes is higher in tumors from pediatric patients than in adults is not entirely true and might be too oversimplified.
| S-EPMC4789067 | biostudies-literature
Project description:Three-dimensional ultrasound is an established diagnostic imaging technique in many specialties. However, in neonates, infants and children three-dimensional ultrasound still is underutilized, partially due to time constraints for post-processing and restricted availability, of devices as well as dedicated pediatric transducers. Also reimbursement issues still need to be addressed. This editorial review presents more or less established pediatric three-dimensional ultrasound applications with proven diagnostic benefit as well as potential future applications of three-dimensional/four-dimensional ultrasound in infants and children, aiming at enhancing research and promoting practical use of three-dimensional ultrasound in relevant pediatric conditions. Particularly, applications in neonatal neurosonography, ultrasound of the urogenital tract as well as some other small part and miscellaneous queries are highlighted. Additional other potential and future indications are discussed briefly, also mentioning restrictions and potential future developments. In summary, three-dimensional ultrasound holds some potential to widen sonographic diagnostic capabilities throughout childhood and hopefully will be increasingly investigated and introduced into clinical practice provided respective equipment and pediatric three-dimensional/four-dimensional ultrasound transducers become available.
| S-EPMC4579731 | biostudies-literature
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| S-EPMC10860746 | biostudies-literature
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| S-EPMC9969156 | biostudies-literature
Project description:BackgroundAutoimmune thyroid disease (AITD) manifests with a female predominance, and much attention has been directed towards the integral membrane protein 2 A (ITM2A) gene located on the X chromosome.MethodsIn a study of 166 pediatric patients with autoimmune thyroid disease (AITD), the ITM2A rs1751094 single-nucleotide polymorphism (SNP) was genotyped. The sample comprised 143 females and 23 males, with 67 patients diagnosed with Hashimoto chronic thyroiditis (HD) and 99 with Graves' disease (GD). In the 99 GD patients, 49 (49.5%) exhibited thyroid-associated ophthalmopathy (TAO). Among the 85 GD patients, 70.6% (60/85) were considered intractable GD. The results were compared to those from 198 healthy Korean individuals, including 97 females and 101 males.ResultsThe frequency of the rs1751094 C allele and CC/AC genotype were higher in AITD, GD and HD patients compared to controls, while the frequency of the A allele and AA genotype were lower. The results were more pronounced in female AITD and GD patients compared to male patients. The association was also found in intractable GD and TAO patients. Target SNP fits Hardy-Weinberg equilibrium.ConclusionsThese findings indicate that the ITM2A gene polymorphism on the X chromosome may contribute to the immunological basis of female-predominant AITD in Korean children.
| S-EPMC10013136 | biostudies-literature
Project description:BackgroundSystemic Lupus Erythematosus (SLE) patients are more likely than the general population to suffer from thyroid illness. The major goal was to assess the thyroid dysfunctions due to immunological factors in Egyptian SLE children and how they are related to the course and severity of the illness.MethodsFifty children and adolescents with SLE are included in this cross-sectional observational study. Every patient underwent a thorough physical examination and a comprehensive history taking. An enzyme-linked immunosorbent assay (ELISA) approach was used to evaluate the thyroid profile, anti-thyroglobulin (Anti-TG), and anti-thyroid peroxidase (anti-TPO) antibodies.ResultsOf the 50 patients, the female: male ratio (F: M = 7:1) was 44 females and 6 males (12%). They were between the ages of 5 and 17. Out of the patients, thirty-two (64%) had thyroid dysfunctions, 19 (38%) had euthyroid sick syndrome, ten (20%) had overt hypothyroidism, three (6%) had subclinical hypothyroidism, and none had hyperthyroidism. Of the 50 patients, one (2%) had increased anti-TPO, whereas all other patients had normal anti-TG levels. A statistically significant negative correlation (p-value 0.007) was seen between the disease duration and free thyroxine (FT4). Furthermore, a significant negative correlation (p-values 0.015 and 0.028) was found when comparing the disease duration with thyroid antibodies (anti-TG and anti-TPO).ConclusionIn Juvenile Systemic Lupus Erythematosus (JSLE), thyroid dysfunctions can be identified. The disease duration but not its activity was significantly correlated with thyroid antibodies. For children with JSLE, thyroid function testing should be done on a regular basis. It is preferable to carry out additional thyroid antibody tests when necessary.
| S-EPMC11373283 | biostudies-literature
Project description:The molecular basis underlying the clinical variability in symptomatic Duchenne muscular dystrophy (DMD) carriers are still to be precised. We report 26 cases of early symptomatic DMD carriers followed in the French neuromuscular network. Clinical presentation, muscular histological analysis and type of gene mutation, as well as X-chromosome inactivation (XCI) patterns using DNA extracted from peripheral blood or muscle are detailed. The initial symptoms were significant weakness (88%) or exercise intolerance (27%). Clinical severity varied from a Duchenne-like progression to a very mild Becker-like phenotype. Cardiac dysfunction was present in 19% of the cases. Cognitive impairment was worthy of notice, as 27% of the carriers are concerned. The muscular analysis was always contributive, revealing muscular dystrophy (83%), mosaic in immunostaining (81%) and dystrophin abnormalities in western blot analysis (84%). In all, 73% had exonic deletions or duplications and 27% had point mutations. XCI pattern was biased in 62% of the cases. In conclusion, we report the largest series of manifesting DMD carriers at pediatric age and show that exercise intolerance and cognitive impairment may reveal symptomatic DMD carriers. The complete histological and immunohistological study of the muscle is the key of the diagnosis leading to the dystrophin gene analysis. Our study shows also that cognitive impairment in symptomatic DMD carriers is associated with mutations in the distal part of the DMD gene. XCI study does not fully explain the mechanisms as well as the wide spectrum of clinical phenotype, though a clear correlation between the severity of the phenotype and inactivation bias was observed.
| S-EPMC3722679 | biostudies-other
Project description:This case-control study sought to investigate whether thyroid autoimmunity is significantly associated with identifiable and potentially modifiable environmental factors. A total of 324 individuals were recruited: 164 cases (with positive thyroid peroxidase antibodies [TPO-Ab] and/or thyroid-stimulating hormone receptor antibodies [TSH-R Ab]) and 160 controls (negative antibodies) who had been screened for thyroid autoimmunity within the previous 12 months. A questionnaire sought information on drug, social, and reproductive history, stress, and iodine intake, while blood specimens were collected to measure glycosylated hemoglobin, thyroid function, TPO-Ab/TSH-R Ab status, 25-hydroxyvitamin D level, and hepatitis C antibody status. Both TPO-Ab-positive and TSH-R Ab-positive individuals were exposed to a higher amount of smoking pack-years (P = 0.038 and 0.037, respectively). No significant predictors of TSH-R Ab positivity were identified on multivariate regression analysis. The odds for TPO-Ab positivity was increased by female gender (odds ratio [OR] 2.815, 95% confidence interval [CI], 1.387, 5.714; P = 0.004) and discontinuation of smoking (OR 2.367, 95% CI, 1.213, 4.621; P = 0.012), while birth in winter (OR 0.470, 95% CI, 0.253, 0.871; P = 0.017) and higher intake of iodine-rich foods (OR 0.864, 95% CI, 0.761, 0.981; P = 0.024) decreased the odds for TPO-Ab development. Therefore, avoidance of ever starting smoking and correction of iodine deficiency may help protect against TPO-Ab development.
| S-EPMC9373741 | biostudies-literature