Objective To investigate the changes of serum vitamin E in pregnant women with autoimmune thyroid diseases and provide evidence for clinical prevention of adverse pregnancy caused by oxidative stress. Methods Randomly selecting 221 cases of obstetrics and gynecology pregnant women in outpatient clinics in Chancheng District Central Hospital. A double antibody one-step sandwich enzyme-linked immunosorbent assay (ELISA) was used to detect vitamin E concentration. Results The results of 221 subjects were normally distributed. The vitamin E concentration in the disease group was (353. 93 ± 141. 28) mmol/L, and the control group was (310. 49 ± 105. 49) mmol/L. There was a significant difference between the two groups (P＜0. 05). The concentration of vitamin E in different gestational weeks gradually decreased with the increase of pregnancy, and the difference between them was statistically significant (F = 8. 417, P＜0. 05). Conclusion The presence of oxidative stress during pregnancy in women with autoimmune thyroid diseases should be valued by clinicians.

OBJECTIVETo investigate the history of a Wiskott- Aldrich syndrome (WAS) family with normal mean platelet volume (MPV), analyse the WASP gene mutation of to better understand its clinical characteristics.

METHODSA four- generation WAS family histories of 22 members were investigated. Peripheral blood samples were collected from propositus and his mother to analyse all exon mutations of WASP gene using sanger sequencing.

RESULTSThe MPV of both propositus and his elder brother were normal. The patient's clinical score was 5, antibodies to PM-Scl, PCNA and PO were positive with very high level of ASO, the patient co- suffered from autoimmune disease, anemia, abnormal renal function, fungal infection and scleritis. A homozygous mutation (C>T) was found at 173 bp of exon 2, corresponding to amino acids Pro (P) 58 abnormally changed to Leu (L). His mother was the carrier of the mutation. Of 112 blood diseases- related genes, mutation frequencies of CBL, CREBBP, DNM2 and ADAMTS13 were higher than normals.

CONCLUSIONThis was the first report the phenotype 173C>T mutation of WASP without eczema, but with normal MPV and autoimmune disease in Chinese, WAS should be recognized earlier and diagnosed correctly by genomic methods.

Asian Continental Ancestry Group ; DNA Mutational Analysis ; Exons ; Humans ; Male ; Mean Platelet Volume ; Mutation ; Phenotype ; Wiskott-Aldrich Syndrome ; genetics ; Wiskott-Aldrich Syndrome Protein ; genetics