A Novel Loss-of-Function MKRN3 Variant in a Chinese Patient With Familial Precocious Puberty: A Case Report and Functional Study

Background: Central precocious puberty (CPP) is one of the most common and complex problems in clinical pediatric endocrinology practice. Mutation of the MKRN3 gene can cause familial CPP.Methods and Results: Here we reported a Chinese patient bearing a novel MKRN3 mutation (c.G277A/p.Gly93Ser) and showing the CPP phenotype. Functional studies found that this mutation of MKRN3 attenuated its autoubiquitination, degradation, and inhibition on the transcriptional activity of GNRH1, KISS1, and TAC3 promoters.Conclusion: MKRN3 (Gly93Ser) is a loss-of-function mutation, which attenuates the inhibition on GnRH1-related signaling, suggesting that this mutant can lead to central precocious puberty.

The Use of Sonography in Pediatrics: The Bioethical Concerns in Clinical and Research Practice

Sonography has been widely used in both a clinical and non-clinical setting. This imaging modality is a common tool of choice for both physicians and researchers. Although sonography is a non-ionizing and non-invasive tool for imaging, special considerations need to be made when working with the pediatric population. Ethical guidelines for clinical pediatric care and research need to consider the varying ethical guidelines and bioethical concerns in children. As sonographers, researchers, educators and clinicians, pediatric care and research must balance the protection of children and the need for imaging to improve pediatric well-being. The discussion of this paper will delve into The Principles Approach developed by Beauchamp and Childress. Each principle will be explored and how those ethical principles could be considered in pediatric care.

Clinical Pediatric Screening for COVID-19

Background: Due to the increasing prevalence of covid-19, the World Health Organization declared on 30 January 2020, the spread of the new coronavirus as a 6th public health emergency of international concern. Objectives: To assess the extent of the disease in the pediatric population in our region, we conducted a clinical pediatric screening for Covid-19 and evaluated factors that affected its manifestation in children. Methods: In this study, 474761 children under 19 years of age were screened in two phases. In the first phase, 680 cases were considered as suspect and referred to the health centers, where the second phase of screening took place. Finally, 230 probable cases were referred to specialized centers for further investigation. Results: Almost all of the cases had pneumonia and symptoms of shortness of breath, cough, and fever over 38°C (56.7%). Other clinical symptoms included hypotension (17.4%), Hemoptysis (16.1), sore throat (11.6%) and difficult breathing (6.7%). 26% of patients had a history of chronic disease (mainly pulmonary and cardiac). There was a statistically significant relationship between the probable causes and the symptoms of the disease (P < 0.05), between age and probable cases (P < 0.05), and between death and underlying disease (P < 0.05). However, of all the cases, only 15 (6.5%) had a positive PCR test, 39 patients were hospitalized (17%), 173 cases (75%) received outpatient treatment and 18 cases (7.8%) died. Conclusions: Children with shortness of breath, cough, pneumonia, fever over 38 and underlying disease are suspicious for Covid-19 and should be hospitalized to be evaluated with laboratory tests.