Bernard-Soulier syndrome caused by two novel heterozygous GP1BA gene mutations: a case report and literature review.

BACKGROUND: Bernard-Soulier syndrome (BSS) is a rare inherited macrothrombocytopenia, usually autosomal recessive, which is characterized by prolonged bleeding, thrombocytopenia, and abnormally large platelets. METHODS: For more than 6 years, we misdiagnosed a patient with BSS without an obvious bleeding tendency as having idiopathic thrombocytopenia purpura (ITP), prior to obtaining a genetic analysis. On admission, routine hematology showed a platelet count of 30 × 109/L and mean platelet volume (MPV) of 14.0 fL. RESULTS: Whole-exome sequencing revealed two likely pathogenic heterozygous mutations (c.95_101del and c.1012del) in GP1BA. Flow cytometry analysis of platelet membrane glycoproteins indicated that the expression of GP1b was 0.28% of the normal level. Platelet aggregation tests indicated that platelet aggregation was inhibited by ristocetin- (1.7%), ADP- (14.5%), and arachidonic acid- (5.6%) induced platelet aggregation. A literature review identified reports on 53 mutations in the GP1BA gene in 253 patients, 29 mutations in the GP1BB gene in 90 patients, and 32 mutations in the GP9 gene in 114 patients. CONCLUSION: This case report describes two novel gene mutation sites that have not been reported previously, enriching understanding of the GP1BA mutation spectrum.

Echocardiographic assessment of intimal thickness growth of patent ductus arteriosus in neonates and analysis of influencing factors.

The spontaneous closure rate of patent ductus arteriosus (PDA) is high, and the necessity of early intervention is debated. Quantitative echocardiographic assessment of the intima in PDA has not been reported. This study evaluated intimal thickness growth in neonatal cases of PDA via echocardiography and investigated its correlation with clinical factors. Seventy-three neonates were enrolled, and echocardiography was performed three times: within 24 h post-birth (first echo), 48 h after the first echo (second echo), and before discharge (third echo). According to PDA outcome, the neonates were divided into the PDA-open group (n = 18 cases), PDA-closure at second echo group (n = 32 cases), and non-PDA at first echo group (n = 23 cases). We measured the intimal thickness (IT1 and IT2 at first and second echo, respectively), lumen diameter of ductus arteriosus (D1 and D2 at first and second echo, respectively), IT1/D1 ratio, and intimal thickness growth rate (V). Correlations between echocardiographic indicators, perinatal factors, and clinical treatment were analyzed. On first echo, the PDA-open group showed a significantly lower IT1/D1 than the combined PDA-closure group (P < 0.05). On second echo, the PDA-open group showed a significantly lower IT2 and V than the PDA-closure group as well as a significantly higher D2 (P < 0.05). Smaller gestational age correlated with a larger D2 but smaller IT2 and V (P < 0.05) and a higher level of respiratory support within 72 h post-birth correlated with a larger D2 and smaller IT 2 (P < 0.05). Increasing oxygen demand within 72 h of birth correlated with a larger D1 and D2 (P < 0.05). Echocardiographic assessment of intimal thickness growth in PDA may provide an approach for predicting spontaneous PDA closure, thereby guiding decision-making regarding early intervention.

Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report.

BACKGROUND: Transcobalamin (TC) transports vitamin B12 from blood into cells. TC II deficiency is a rare autosomal recessive disorder. It is characterized by failure to thrive, diarrhoea, pallor, anaemia, pancytopenia or agammaglobulinemia. It is usually confirmed by molecular analysis of the TCN2 gene. We report a 2-month-old girl with two novel mutations, which were first reported in humans. CASE PRESENTATION: We present a 2-month-old Chinese girl with pancytopenia, severe combined immunodeficiency disease, and megaloblastic anaemia. Targeted next-generation sequencing (NGS) was performed, which detected compound heterozygous variants in exon 7 of the TCN2 gene (Mutation 1: c.1033 C > T; Mutation 2: c.1017-1031delinsGTAACAGAGATGGTT). These mutations result in stop codons in TCN2. The c.1033C > T mutation causes a stop at codon 345 (p.Gln345Ter), and the c.1017-1031delinsGTAACAGAGATGGTT mutation causes a stop at codon 340 (p.Leu340Ter). After being diagnosed, she was treated with intramuscular 1 mg hydroxycobalamin (OH-Cbl) every day for 2 months. The CBC value returned to normal after half a month. The peripheral blood lymphocyte subsets and immunoglobulin recovered after 2 months. Then, the dosage of OH-Cbl was gradually reduced. CONCLUSIONS: TC II deficiency is a serious complication that requires lifelong treatment. Its diagnosis is difficult due to the lack of clearly identifiable symptoms. Genetic testing should be performed as early as possible if this disease is suspected. The specific observations of this case report make a considerable contribution to the literature and provide a reference for the diagnosis and treatment of future cases.

Anxiety in Chinese pediatric medical staff during the outbreak of Coronavirus Disease 2019: a cross-sectional study.

BACKGROUND: Our study aimed to explore the anxiety levels and possible associated factors in the pediatric medical staff in Jiangsu province during an outbreak of Coronavirus Disease 2019 (COVID-19). METHODS: Pediatric medical staff (n=534) from nine hospitals in Jiangsu province were enrolled. Their anxiety levels and quality of sleep were assessed using the online SAS and PSQI questionnaires. RESULTS: The prevalence of anxiety was 14.0% among the medical staff. In children's hospital staff, anxiety levels in outpatient and emergency departments were significantly higher than those in inpatient departments, except for the intensive care unit. The SAS scores were significantly associated with educational background, professional title, lifestyle, and physical condition. Stepwise multiple linear regression showed that physical condition, lifestyle, attention to the epidemic, professional title, and educational background all had a linear relationship with the individual's anxiety levels. Pearson correlation analysis showed that sleep quality was moderately associated with anxiety levels. CONCLUSIONS: The prevalence of anxiety was 14.0% in pediatric medical staff in Jiangsu province during an outbreak of COVID-19. Department, professional title, and educational background were associated with anxiety levels in these workers. More attention should be paid to staff who are in poor health, and this anxiety can also be accompanied by poor sleep quality. Peer support can assist with anxiety relief.

A method for removing self-assembled monolayers on gold.

Self-assembled monolayers (SAMs) have been widely used in studying interfacial phenomena, biological processes, electrochemistry, photoelectrochemistry, photoactivity and molecular interaction. Much research has been carried out in fabricating and removing SAMs on different substrates. In this work, we report for the first time, to our knowledge, that SAMs of thiolates on gold can be removed by immersing SAMs in 0.5 M NaBH 4 solution for 10 min. The procedure of removing thiolates was very convenient. Cyclic voltammetry, surface-enhanced Raman spectroscopy, and X-ray photoelectron spectroscopy were used to characterize this process. The results indicated that the SAMs of thiolates on gold can be removed efficiently by NaBH 4.