ABSTRACT
The clinical data of a case diagnosed with MIRAGE syndrome in the Respiratory Department of Shenzhen Children′s Hospital in June 2020 were analyzed retrospectively.The 11-month-old boy was admitted to the hospital because of " intermittent fever for 1.5 months and blood oxygen decline for half a day" . Whole exome detection was carried out by using second-generation sequencing technology.The results showed spontaneous, heterozygous, missense variation in SAMD9 gene (NM_017654) and the mutation site was c. 2471G>A.Review of the literature found that all of the children (47 cases) were born prematurely and their parents were not intermarriage.Besides, they had overall growth retardation, and some suffered from myelodysplasia, recurrent infection, adrenal insufficiency, genital phenotypes and enteropathy.Among SAMD9 gene variation, mutations c. 1376G>A and c. 2471G>A are most frequent.Attention should be paid to the MIRAGE syndrome in children with premature birth and full development lag after birth.
ABSTRACT
Objective:To summarize the characteristics of eosinophilia in peripheral blood in children with parasitic diseases.Methods:All clinical data of children with parasitic diseases who were diagnosed in Shenzhen Children′s Hospital from June 2002 to June 2020 were collected to analyze the characteristics of eosinophil changes in peripheral blood after parasitic infection.Results:(1)A total of 37 cases of parasitic diseases were diagnosed in children, with 25 males and 12 females, aged from 10 months to 12 years and 7 months, and the median age was 5 years and 3 months.(2)Among 37 cases, the absolute number of eosinophils in peripheral blood was increased in 32 cases (86.49%), with a range of (0.55-43.80)×10 9/L: 6 cases (18.75%) were slightly increased, 8 cases (25.00%) were moderately increased, and 18 cases (56.25%) were severely increased.(3)As for eosinophilia in peripheral blood of different insect species, there were 16 cases (50.00%) of fasciola infection, 4 cases (12.50%) of fasciola infection, 3 cases (9.38%) of mixed infection, 2 cases (6.25%) of schistosomiasis, plerocercoid, hydatid and cysticercosis infection, and 1 case (3.13%) of ascaris infection.The degrees of the increase of eosinophils in peripheral blood infected by different species of parasites were different ( Fisher′ s value 17.97, P=0.01), with statistically significant differences.(4)Eosinophilia in peripheral blood was involved in different systems, with respiratory system in 18 cases (48.65%), digestive system in 13 cases (35.14%), skin in 7 cases (18.92%), central nervous system in 5 cases(13.51%), circulatory system in 3 cases (8.11%), and others in 2 cases (5.41%). (5)There were 5 cases of parasitic infection without eosinophilia, including 2 cases of Blastocystis hominis, and 1 case of mixed infection with plerocercoid and cysticercosis, 1 case of cysticercosis and 1 case of trichinella spiralis.The increase of eosinophils in peri-pheral blood after different systems was different, without statistically significant differences ( Fisher′ s value 7.37, P=0.06). Conclusions:Eosinophil in peripheral blood is a common phenomenon of parasitic infection in children.The increased severity is related to parasite species, instead of the site of systemic involvement.
ABSTRACT
The polymorphic characteristics of DNA region adjacent to the 5' end of the insulin gene in 83 Han subjects in China including 26 normal people and 57 diabetics were analysed by restriction endonuclease Bgl 1 gene mapping of chromosomal DNA. DNA fragments obtained by Bgl 1 digestion mainly contained 2.8 ? 0.3 kb (5%), 3.5?0.3kb (10%), 4.2 ? 0.3kb (46%) and 5?0.4kb (36%). In contrast with western white and black people, the above region is homozy-gous in 86% of the Han subjects analysed. This difference may be associated with the racial characteristics. No definite correlation between such polymorphism and the type of diabetes has been found.