Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder caused by defects in the CYP21A2 gene. We aimed to determine the prevalence of the most commonly reported mutations among 21-OHD Egyptian patients and correlate genotype with phenotype.
Molecular analysis of the CYP21A2 gene was performed for the detection of the six most common point mutations (p.P30L, p.I172N, p.V281L, p.Q318X, the splice site mutation Int2 [IVS2–13A/C>G], and the cluster of three mutations [p.I236N, p.V237E, and p.M239K] designed as CL6). Polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) method was performed on 47 unrelated Egyptian 21α-OH deficiency patients and their available parents to detect the presence of the six most common point mutations.
Screening for the six most common point mutations in CYP21A2 gene, revealed mutations in 87.2% (82/94) of the studied alleles corresponding to 47 Egyptian patients. The most common mutation among the studied cases was IVS2-13C/A>G that was found to be presented in a frequency of 46.8% (44/94). The genotype/phenotype correlations related to null, A, and B groups were with PPV of 100, 55.5, and 83.3%, respectively.
The described method diagnosed CAH in 80.8% of the studied patients. Good correlation between genotype and phenotype in salt wasting and simple virilizing forms is determined, whereas little concordance is seen in nonclassical one. Furthermore, studying the carrier frequency of 21-OHD among the normal population is of great importance.
COVID-19 has become a global pandemic and requires the whole world to respond together. There is no specific antiviral treatment recommended at present for COVID-19. The patients must receive the supportive care to help relieve the symptoms and ensure appropriate infection control. Whether or not to use corticosteroids clinically caused controversy. This article has summarized previous researches about the using of corticosteroids in other viral pneumonia, related clinical data in COVID-19, and recommendations in Chinese guideline.
On March 11, 2020, the WHO declared that coronavirus disease 2019 (COVID-19) can be characterized as a pandemic based on the alarming levels of spread and severity and on the alarming levels of inaction. COVID-19 has received worldwide attention as emergency, endangering international public health and economic development. There is a growing body of literatures regarding severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) as well as COVID-19. This review will focus on the latest advance of epidemiology, pathogenesis, and clinical characteristics about COVID-19. Meanwhile, tuberculosis (TB) remains the leading representative respiratory tract communicable disease threatening public health. There are limited data on the risk of severe disease or outcomes in patients with concurrence of TB and COVID-19. Nevertheless, co-infection of some virus would aggravate TB, such as measles. And tuberculosis and influenza co-infection compared with tuberculosis single infection was associated with increased risk of death in individuals. This review will also introduce the characteristics about the concurrence of TB and emerging infectious diseases to provide a hint to manage current epidemic.
With this review, we aim to focus the attention on some established as well as new concepts for the metabolic syndrome (MetS) in children and adolescents spanning from definition to recommendations for the diagnostic approach. Even though there is no international commonly used definition of the metabolic syndrome in children and adolescents, all definitions include obesity as precondition for the development of MetS even in children. Obesity is one of the major cardiometabolic risk factors and it is strongly linked to other metabolic diseases like hyperlipidemia, hyperinsulinemia as well as hypertension. The metabolic syndrome is commonly known as a constellation of the mentioned morbidities. Pediatricians and researchers agree that early diagnosis and early interventions of the MetS are important to improve the prevention of cardiovascular disease and type 2 diabetes in adulthood. However, this requires appropriate screening tools for children and adolescents at risk for the MetS and its comorbidities. Due to controversies regarding the definition of MetS and the lack of consensus thresholds for the single components in children and adolescents, there is no internationally accepted diagnostic pathway for MetS available. However, several consensus statements and national guidelines for the assessment of obesity and its comorbidities in children and adolescents are available. Obesity seems to be the driving factor for the development of the other risk factors of MetS. In order to avoid conflicts concerning the definition of overweight and obesity, we recommend using the WHO definition of overweight (one standard deviation body mass index for age and sex and obesity; two standard deviations body mass index for age and sex) in children and adolescents.