Identification of a novel PTH1R variant in a family with primary failure of eruption.

BACKGROUND: Primary failure of tooth eruption (PFE) is a rare autosome genetic disorder that causes open bite. This work aimed to report a small family of PFE(OMIM: # 125,350) with a novel PTH1R variant. One of the patients has a rare clinical phenotype of the anterior tooth involved only. CASE PRESENTATION: The proband was a 13-year-old young man with an incomplete eruption of the right upper anterior teeth, resulting in a significant open-bite. His left first molar partially erupted. Family history revealed that the proband's 12-year-old brother and father also had teeth eruption disorders. Genetic testing found a novel PTH1R variant (NM_000316.3 c.1325-1336del), which has never been reported before. The diagnosis of PFE was based on clinical and radiographic characteristics and the result of genetic testing. Bioinformatic analysis predicted this variant would result in the truncation of the G protein-coupled receptor encoded by the PTH1R, affecting its structure and function. CONCLUSION: A novel PTH1R variant identified through whole-exome sequencing further expands the mutation spectrum of PFE. Patients in this family have different phenotypes, which reflects the characteristics of variable phenotypic expression of PFE.

The general public's ability to operate automated external defibrillator: A controlled simulation study.

BACKGROUND: Automated external defibrillators (AEDs) enable laypeople to provide early defibrillations to patients undergoing cardiac arrest, but scant information is available on the general public's ability to use AEDs. This study assessed the ability of laypeople to operate AEDs, the effect of a 15-minute training, and whether skills differed by age. METHODS: From May 1 to December 31, 2018, a prospective simulation study was conducted with 94 laypeople aged 18-65 years (32 aged 18-24 years, 34 aged 25-54 years, and 28 aged 55-65 years) with no prior AED training. The participants' AED skills were assessed individually pre-training, post-training, and at a three-month follow-up using a simulated cardiac arrest scenario. The critical actions and time intervals were evaluated during the AED operating process. RESULTS: Only 14 (14.9%) participants (eight aged 18-24 years, four aged 25-54 years, and two aged 55-65 years) successfully delivered defibrillations before training. AED operation errors were more likely to occur among the participants aged 55-65 years than among other age groups. After training, the proportion of successful defibrillations increased significantly (18-24 years old: 25.0% vs. 71.9%, P<0.01; 25-54 years old: 11.8% vs. 70.6%, P<0.01; 55-65 years old: 7.1% vs. 67.9%, P<0.01). After three months, 26.1% of the participants aged 55-65 years successfully delivered defibrillations, which was significantly lower than that of participants aged 18-24 years (54.8%) and 25-54 years (64.3%) (P=0.02). There were no differences in time measures among three age groups in each test. CONCLUSIONS: The majority of untrained laypeople cannot effectively operate AEDs. More frequent training and refresher courses are crucial to improve AED skills.

Effective mitigation strategy in early stage of COVID-19 pandemic in China.

In the past five months, success in control the national epidemic of coronavirus disease 2019 (COVID-19) has been witnessed in China. The implementation of public health measures accounts for the success which include different interventions in the early or later stages of the outbreak. It is clear that although not all measures were universally effective worldwide, their achievements have been significant. More solidarity is needed to deal with this global pandemic with more learning and understanding. Understanding which of the public health interventions implemented in China were effective may provide ideas for international epidemic control.