Design and practice of medical service for the main venue of the 19th Hangzhou Asian Games / 中华急诊医学杂志

Objective:To clarify the medical security plan and its practical effects at the main venue of the 19th Hangzhou Asian Games.Methods:The plan described the medical security implementation plan of the main venue of the 19th Asian Games in Hangzhou (organizational management and operation mechanism, medical security operation system, standardized training and support processes, application of Asian Games intelligent first aid security system, and so on). And through high-facticity simulation verify the operation effect of the main venue's medical support (team mode and response time). Finally, the feasibility and effectiveness of the medical security program verified through the effect of medical services (quantity, disease types, transfers, etc.) during the Asian Games and Asian Paralympic Games.Results:The medical security team of the main venue of the 19th Hangzhou Asian Games included the management team and the operation team, of which consisted of 44 medical staffs (22 doctors and 22 nurses); and were deployed to 16 different security positions. It was also accompanied with 16 volunteers to assist medical staff to transport patients. In addition, a total of 300 medical observers were enrolled in audience area to assist rapid identification, intervention, and collaborative diagnosis and treatment with the medical team. Medical security teams were arranged to cover all the audience areas who can arrive at the patient's area within 2 minutes after receiving orders, transfer the patient to the ambulance’s site in 8 minutes, and transport the patient to a designated hospital within 10-20 minutes. During the Asian Games and Asian Paralympic Games, the medical-care team treated a total of 3 742 patients, including 9 patients transported from medical service sites of the audience area to the stadium infirmary, as well as 83 patients referred to the designated hospital.Conclusions:The medical security implementation plan for the main venues of the Asian Games provides good medical security for the Asian Games and Asian Paralympic Games. It also provides theoretical and practical experience for the development of the medical security system for international events in future.

Clinical and genetic analysis of a newborn with hypoparathyroidism, sensorineural hearing loss, and renal dysplasia syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical phenotype and genetic basis for a male neonate featuring hypoparathyroidism, sensorineural hearing loss, and renal dysplasia (HDR) syndrome.@*METHODS@#The child was subjected to genome-wide copy number variation (CNVs) analysis and whole exome sequencing (WES). Clinical data of the patient was analyzed. A literature review was also carried out.@*RESULTS@#The patient, a male neonate, had presented with peculiar facial appearance, simian crease and sacrococcygeal mass. Blood test revealed hypocalcemia, hypoparathyroidism. Hearing test suggested bilateral sensorineural deafness. Doppler ultrasound showed absence of right kidney. Copy number variation sequencing revealed a 12.71 Mb deletion at 10p15.3-p13 (chr10: 105 001_12 815 001) region. WES confirmed haploinsufficiency of the GATA3 gene. With supplement of calcium and vitamin D, the condition of the child has improved.@*CONCLUSION@#The deletion of 10p15.3p13 probably underlay the HDR syndrome in this patient.

De novo NFκB2 gene mutation associated common variable immunodeficiency / 中华儿科杂志

Objective@#To investigate the clinical, immunological, and molecular manifestations of nuclear factor kappa-B subunit 2 (NFκB2) gene mutation associated common variable immunodeficiency (CVID) .@*Methods@#A 14-month-old boy diagnosed with NFκB2-mutated CVID was admitted into Children's Hospital of Chongqing Medical University in December 2015. The clinical manifestations, biochemical tests, immunological function, molecular features, treatment, and follow-up of the patient were analyzed. The Chinese and PUBMED databases were searched with the key words "NFκB2" and "immune deficiency" and related literatures were reviewed.@*Results@#The patient had 4 episodes of pneumonias and one otitis media since the age of 6 months. The serum immunoglobulin levels were IgG 2.73 g/L, IgA<0.07 g/L, and IgM 0.12 g/L. The percentage of peripheral lymphocyte subsets demonstrated increased CD3+T lymphocyte (81.8%), increased CD4+ naïve T cell (39.1%), normal B cell (14.1%), low switched memory B and plasmablast B (respectively 0.1% and 0), and lightly diminished natural killer(NK) cell (4.13%). Within the peripheral CD4+T cells, the percentage of regulatory T cells (1.49% (control 4.08%)), T follicular helper (3.66% (control 11.0%)), and T helper 17 (9.65% (control 15.7%)) were decreased, while the percentage of T helper 2 (60.9% (control 46.5%)) was elevated. T lymphocyte proliferative response and T cell receptor repertoire diversity were normal. NK-cell cytotoxic activity was impaired. The whole-exome sequencing harbored a de novo heterozygous nonsense mutation in exon 22 (c.2557C>T; p. Arg853X) in the C-terminus of NF-κB2. The western blotting confirmed the decreased expression of NF-κB2 (p52) protein. The patient received intravenous immunoglobulin infusion monthly (400-600 mg/kg), followed by improvement of pulmonary infection. After searching the databases, a total of 28 cases (1 Chinese and 27 non-Chinese) were identified. There were 12 cases of nonsense mutation (5 were gain-of-function mutation), and 8 cases of missense and frameshift mutations, respectively. The main clinical manifestation was respiratory infection, followed by autoimmune diseases such as alopecia and trachyonychia. Fifteen cases developed adrenocorticotrophic hormone (ACTH) deficiency.@*Conclusions@#NF-κB2 signaling pathway played an important role in T and B lymphocyte differentiation, and NK-cell cytotoxic activity. NFκB2 mutation should be considered in cases with recurrent infections, hypogammaglobulinemia, and decreased memory B cells and plasma cells, especially when combined with ACTH deficiency.