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Objective@#To explore the characteristics of Auditory Brainstem Response (ABR) in children with ASD, and analyze their relation with the core symptoms of ASD.@*Methods@#Ninty children aged 2-6 with ASD were recruited from Harbin in this study. The data of ABR was collected by using BAEP, and the association among children’s absolute latency and interpeak latency of ABR, core symptoms of ASD children’s behavior and clinical manifestation was analyzed.@*Results@#Compared with the normal average value, children with ASD had longer the absolute latency of wave Ⅰ,Ⅲ,Ⅴ in bilateral ears, which were (1.51±0.20)(3.83±0.34)(5.63±0.23)ms, (1.54±0.16) (3.78±0.23) (5.63±0.22)ms, respectively(P<0.05). Some children’s interpeak latency of Ⅰ-Ⅲ, Ⅲ-Ⅴ, Ⅰ-Ⅴ were longer than normal values. Children younger than 3 years old showed prolonged peak intervals of Ⅰ-Ⅲ and Ⅰ-Ⅴ than children in 3-7 years old. The study has also showed that there was positive correlation between the absolute latency of waveⅠin left ear and the social function defect(r=0.45, P<0.05); there was positive correlation between the latency of wave Ⅴin right ear or the latency of waveⅠin left ear or the Ⅰ-Ⅲ peakinterval and nonverbal communication ability dysfunction(r=0.35, 0.39, 0.34, P<0.05); there was positive correlation between the Ⅰ-Ⅲ peak interval and the repeated stereotyped symptoms(r=0.39, 0.35, P<0.05).@*Conclusion@#Children with ASD have abnormal auditory behavior. The absolute latency and interpeak latency of ABR is correlated to some parts of core symptoms of ASD.
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Objective To explore the clinical feature, gene mutations and treatment of isolated hypogonadotropic hypogonadism (IHH). Methods The clinical data from a case of IHH and his families were retrospectively analyzed. The related literatures were reviewed. Results The propositus was a 7-year-old boy with a small penis and testes, whose younger brother was 5-year-old with a small penis and cryptorchidism. In both boys testosterone, luteinizing hormone (LH), follicle stimulating hormone (FSH) levels were low. The GnRH provocation test was not reactive. Their parents denied the consanguineous marriage. Illumina sequencing revealed that both of the brothers had homozygous mutation of GnRHR gene in C.806C>T, and their parents were heterozygous mutations in C.806C>T gene. After confirmation of the diagnosis, human choronic gonadotropin (hCG) treatment was given. The levels of testosterone and dihydrotestosterone were significantly increased after 6 weeks. Conclusion The combination of clinical phenotype, biochemical analysis, and gene detection is helpful for early diagnosis of IHH.
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Objective To summarize and analyze the shielding,retention and reentry works of blood donors,and to investigate the feasibility of retention and reentry strategy.Methods The samples of ELISA single reagent reactive/NAT non-reactive and ELISA non-reactive/ NAT reactive were negative by confirmatory tests.Then the blood was weeded out and the donation qualification was reserved.The donors of shielding more than 6 months could propose the reentry application at any blood station in the province,and were allowed to return to the ranks after qualified by routine detection and re-detection by Jiangsu Provincial Blood Center.The unqualified rates were compared between the donors of again blood donation after retention and reentry with the common donors by χ2 test.Results From October 2014 to June 2016,1 615 cases were ELISA single reagent reactive/NAT non-reactive,among which 67 cases were confirmed as positive,42 cases were undetermined and 1 506 cases were negative;831 cases were ELISA non-reactive/ NAT reactive,in which 809 cases were positive by confirmation and 22 cases were negative.A total of 1 528 donors were confirmed as negative and their donation qualifications were reserved,89 donors conducted blood donation again and 79 were qualified in blood detection.The unqualified rate was 11.24%,compared with that of common donors,the difference was statistically significant(P<0.001).Meanwhile,596 donors applied for reentry,among them 218 persons were weeded out by the reentry blood station.In remaining 378 samples sent to Jiangsu Provincial Blood Center,359 samples were qualified and confirmed to the reentry condition.Among them,332 donors conducted blood donation and all were qualified by blood detection.Conclusion The reentry strategy in Jiangsu Province is reasonable and feasible,but the donors retention strategy needs to be further optimized and perfected.
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Objective To investigate the characteristics and essential points of diagnosis and treatment of double trisomy 47,XXX/48,XXX,+8 combined Behcet disease, a rare inherited immunodeficiency disorder. Methods The clinical manifestations, karyotype analysis and gene test results of the patients were analyzed, and relevant literatures were reviewed. Results A 11-year-old girl presented repeated fever for more than 6 years, accompanied with recurrent genital herpes infection and oral apthosis, was clinically diagnosed with Behcet disease. Cytogentic and molecular karyotyping on peripheral lymphocytes demonstrated 47,XXX[12]/48,XXX,+8[18]. Conclusions Conventional karyotype analysis and chromosomal microarray analysis have a complementary role in the diagnosis of the disease. We conclude that patients with constitutional trisomy 8 and those with trisomy 8 confined to the bone marrow are both at increased risk of developing features of Behcet disease. The mechanism may relate to increased gene dosage of candidate genes for Behcet's disease on chromosome 8.