The evidence for an effect of starting dose of levothyroxine on cognitive development, growth, or behavior is too weak to justify recommendations in favor of high- or standard-dose regimens. More reliable information, based on a randomized controlled trial of starting dose or a meta-analysis of the individual patient data currently available, is required to inform treatment policies.
Neonatal diabetes mellitus with congenital hypothyroidism (NDH) syndrome (MIM# 610199) is a rare disease caused by autosomal recessive mutations in the GLIS3 gene. GLIS3 is an important transcription factor that might acts as both a repressor and activator of transcription. To date, 22 cases of NDH syndrome from 16 families and 11 countries have been described. Herein, we report a child who developed diabetes during the first week of age. Additionally, she suffered from congenital hypothyroidism, cardiac abnormalities, and polycystic kidney disease. Genetic analysis revealed that patient is a carrier of two novel heterozygous mutations, p.Pro444fsdelG (c.1330delC) and p.His647Arg (c.1940A > G) in the GLIS3 gene. Each was inherited from clinically healthy father and mother, respectively. Bioinformatic tools (SIFT, PolyPhen2, PROVEAN and SWISS‐MODEL) declared that the p.His647Arg (c.1940A > G) variant has strong detrimental effect and disturbs Kruppel‐like zinc finger domain. All but one so far described cases of NDH syndrome have been caused by homozygous of GLIS3, making the described case the second case of pathogenic, compound heterozygosity of GLIS3 worldwide posing substantial clinical novelty and detailing an interesting interplay between the observed variants and GLIS3 expression, which seems to be autoregulated. Hence, the damaging missense mutation may further reduce the expression of any remaining functional alleles. This case report expands our understanding of the clinical phenotype, treatment approaches, and outcome of infants with GLIS3 mutations and indicates the need for further research to deepen our understanding of the role of GLIS3.
The aim of this investigation was to study prevalence of autoimmune thyroiditis and celiac disease in 39 patients with JRA. Autoimmune euthyroid thyroiditis was diagnosed in 8 % of patients with JRA. Antithyroid antibodies were found in JRA female patients with oligoarticular form of the disease and with predominant presence of antinuclear antibodies. Screening for presence of tissue transglutaminaze antibodies did not reveal celiac disease in patients with JRA.
The article considers methods of analysis of criminological significant information, which are used in modern criminological science. Based on the analytical study, it was concluded that at the current stage of the development of criminological science, regression (as a type of mathematical method), factor (causal), and monitoring criminological analysis are most often used. These methods of criminological analysis were analyzed, their advantages and disadvantages were determined, their recommendations for their application in criminological science were given. It was established that the use of regression analysis is not found in many criminological studies, but today this direction has been updated due to the increase in crime rates both in Ukraine and in the world. However, in criminology, this direction is now one of the promising in the formation of crime prevention measures. It has been proved that most often this type of criminological analysis is used as monitoring. It is quite often used in criminological research by analyzing statistical reporting, which is publicly available to law enforcement agencies (in particular, on the official website of the Office of the Prosecutor General). In this regard, science identifies types of monitoring analysis, which is most often used in our country.
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