Solitary maxillary central incisor and congenital nasal pyriform aperture stenosis can be a diagnostic clue to pituitary hypofunction, CNS, ophthalmological and cytogenic anomalies.

Autoimmune thyroid disease (AITD), including Graves disease (GD) and Hashimoto disease (HD), is an organ-specific autoimmune disease with a strong genetic component. Although the cytotoxic T-lymphocyte-associated protein 4 (CTLA4) polymorphism has been reported to be associated with AITD in adults, few studies have focused on children. The aim of our study was to investigate whether the CTLA4 polymorphisms, including -318C/T (rs5742909), +49A/G (rs231775), and CT60 (rs3087243), were associated with GD and HD in Han Chinese adults and children. We studied 289 adult GD, 265 pediatric GD, 229 pediatric HD patients, and 1058 healthy controls and then compared genotype, allele, carrier, and haplotype frequencies between patients and controls. We found that CTLA4 SNPs +49A/G and CT60 were associated with GD in adults and children. Allele G of +49A/G was significantly associated with GD in adults (odds ratio [OR], 1.50; 95% confidence interval [CI], 1.21–1.84; corrected P value [Pc] < 0.001) and children (OR, 1.42; 95% CI, 1.15–1.77; Pc = 0.002). Allele G of CT60 also significantly increased risk of GD in adults (OR, 1.63; 95% CI, 1.27–2.09; Pc < 0.001) and GD in children (OR, 1.58; 95% CI, 1.22–2.04; Pc < 0.001). Significant linkage disequilibrium was found between +49A/G and CT60 in GD and control subjects (D’ = 0.92). Our results showed that CTLA4 was associated with both GD and HD and played an equivalent role in both adult and pediatric GD in Han Chinese population.

This study demonstrates that CTLA4 49 A-G polymorphism is associated with type 1 diabetes in Han Chinese children. The CTLA4 49 G allele confers an increased risk of type 1 diabetes.

Child sexual abuse (CSA) is a global problem that affects children of all ages, and the evaluation of these victims by psychologic and gynecologic experts in pediatric emergency departments is an important issue. Few data are available on the characteristics of children admitted to pediatric emergency department with recurrent CSA and delayed reported CSA. The aim of the present study was to describe the clinical features of, and risk factors for, recurrent CSA and delayed reported CSA. The study retrospectively analyzed victims of CSA who were admitted to a pediatric emergency department. Chi-square tests and univariate analyses were performed to assess the risk factors of recurrent or delayed reported CSA. Of the 91 CSA cases, 32 (35.2%) were recurrent assaults. Of the 70 cases recorded the duration of the event, 22 (31.4%) were delayed report cases. Comparisons of the non-recurrent and recurrent CSA assault groups revealed a significant increase in comorbidities (odds ratio [OR]: 4.46, 95% confidence interval [CI]: 1.54–12.93), acute psychiatric problems (OR: 3.18, CI: 1.26–8.06), attempted suicide (OR: 4.23, CI: 1.28–13.99), and the need for treatment with antipsychotic medications (OR: 5.57, CI: 1.37–22.65). Compared with non-delayed reported cases, the delay reported cases of CSA were significantly more likely to have anxiety (P < .05). The CSA victims in the present study exhibited acute medical and/or psychosocial problems, which indicate that pediatric emergency professionals have a responsibility to look for and recognize particular characteristics in these victims.

Moons (2020) Emergence of a butterfly: the life experiences of type 1 diabetes Taiwanese patients during the 16-25 years old transition period,

Graves’ disease (GD) is a systemic autoimmune disease characterized by hyperthyroidism. Evidence suggests that alterations to the gut microbiota may be involved in the development of autoimmune disorders. The aim of this study was to characterize the composition of gut microbiota in GD patients. Fecal samples were collected from 55 GD patients and 48 healthy controls. Using 16S rRNA gene amplification and sequencing, the overall bacterial richness and diversity were found to be similar between GD patients and healthy controls. However, principal coordinate analysis and partial least squares-discriminant analysis showed that the overall gut microbiota composition was significantly different (ANOSIM; p &lt; 0.001). The linear discriminant analysis effect size revealed that Firmicutes phylum decreased in GD patients, with a corresponding increase in Bacteroidetes phylum compared to healthy controls. In addition, the families Prevotellaceae, and Veillonellaceae and the genus Prevotella_9 were closely associated with GD patients, while the families Lachnospiraceae and Ruminococcaceae and the genera Faecalibacterium, Lachnospira, and Lachnospiraceae NK4A136 were associated with healthy controls. Metagenomic profiles analysis yielded 22 statistically significant bacterial taxa: 18 taxa were increased and 4 taxa were decreased. Key bacterial taxa with different abundances between the two groups were strongly correlated with GD-associated clinical parameters using Spearman’s correlation analysis. Importantly, the discriminant model based on predominant microbiota could effectively distinguish GD patients from healthy controls (AUC = 0.825). Thus, the gut microbiota composition between GD patients and healthy controls is significantly difference, indicating that gut microbiota may play a role in the pathogenesis of GD. Further studies are needed to fully elucidate the role of gut microbiota in the development of GD.

Our case illustrates the potential risks of DFRA-induced renal toxicity, hepatic dysfunction, and thrombocytopenia. Meticulous monitoring of kidney, liver, and hematopoietic function is mandatory for patients undergoing treatment with DFRA. Further investigation of the potential risk and adverse effects of long-term DFRA use is necessary.

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