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We reported the first case of a boy with selenocysteine insertion sequence binding protein 2 (SECISBP2) compound heterozygous mutation in China and provide a review of literatures to improve clinicians′ understanding of the thyroid hormone metabolism defect. Clinically, for children with growth retardation and delayed motor development, thyroid hormone metabolism deficiency should be considered if the thyroid function test shows normal or slightly elevated TSH, elevated T 4 and decreased T 3.
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Objective To explore the relationship between body muscle mass and body mass index of school-age children and their growth differences in different seasons. Methods A total of 526 cases of preschool children who came to Hengshui People's Hospital for examination from June 2018 to June 2020 were selected as observation objects, including 300 males and 226 females, aged 6-11 years old, with an average age of (8.2 years ±0.2 years). According to the body mass index (BMI), children are divided into normal body weight, overweight weight and obese groups. According to the season, preschool children were divided into four groups, spring group, summer group, autumn group, and winter group, with 131 cases in each group. The physique of preschool children was tested, and the serum 25(OH)D was detected at the same time, the body muscle mass was measured by the bioelectrical impedance method, and the whole body muscle mass index was calculated. Multi-factor linear regression was used to analyze the relationship between vitamin D nutritional status and muscle mass index ; To study the average vitamin D content of children and the differences in different seasons. Results There were 396 children with normal BMI, 90 were overweight, and 40 were obese. The children's normal weight, overweight, and obesity were divided into groups. According to the increase in BMI, the normal vitamin level group, overweight group, and obesity group also decreased, and the difference was statistically significant (P0.05). Compared with the vitamin D deficiency and deficiency groups, the number of children with sufficient vitamin D is also increasing, and the children with sufficient vitamin D have a fixed-point visit to the MMI. According to the analysis results, it is observed that there is a statistically significant difference in vitamin D nutrition and body muscle mass levels (P<0.05). The serum 25(OH)D levels of children in summer and autumn were significantly higher than those in spring and winter, and the difference was statistically significant (P<0.05). Conclusion The body muscle mass and body mass index of preschool children have a significant relationship with 25(OH)D. When 25(OH)D is sufficient, higher body muscle mass can be obtained and the body mass index can be decreased. The growth difference in different seasons is manifested in the higher 25(OH)D in summer, which is more conducive to the growth and development of preschool children.
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Objective:To investigate the clinical significance of six serological methods for diagnosis of brucellosis.Methods:Totally 160 cases of brucellosis patients were selected as the case group and 235 cases of health medical examiners were selected as the control group from January to June 2018 in Heilongjiang Agricultural Reclamation Bureau General Hospital. Six methods were used for detection of brucellosis, including Rose Bengal plate agglutination test (RBPT), fluorescence polarization assay (FPA), indirect enzyme linked immunosorbent assay (iELISA), cysteine agglutination test, standard tube agglutination test (SAT), and anti-globulin test (Coomb's). The consistency of the 4 preliminary screening methods (RBPT vs FPA, iELISA, cysteine agglutination test), and 2 diagnosis methods (SAT vs Coomb's) was compared, and the sensitivity, specificity, rates of missed diagnosis and misdiagnosis were analyzed. Results:In the preliminary screening methods, the consistency of RBPT with FPA and iELISA was relatively consistent (Kappa = 0.872, 0.784), and the consistency with cysteine agglutination test was generally consistent (Kappa = 0.543). In the diagnosis methods, the consistency between SAT and Coomb's was relatively consistent (Kappa = 0.861). The sensitivity of FPA, iELISA, cysteine agglutination test and Coomb's was 91.03%, 75.00%, 56.41% and 80.14%, respectively. The specificity was 95.81%, 100.00%, 98.74% and 100.00%, respectively. The rates of missed diagnosis were 8.97%, 25.00%, 43.59% and 19.86%, respectively. The rates of misdiagnosis were 4.19%, 0, 1.26%, and 0, respectively.Conclusions:FPA and iELISA have high sensitivity and specificity, and are suitable for clinical promotion. The combined detection of multiple serological methods will reduce the probability of misdiagnosis and missed diagnosis of brucellosis, thereby improving the diagnostic level of brucellosis.
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Objective@#To describe the MICM (morphology, immunology, cytogenetics and molecular biology) characteristics of a case of acute myelomonocytic leukemia M 4C . @*Methods@#The medical history data of the case of M 4C admitted to our hospital was reviewed. The results of bone marrow cell morphology, cytochemical stains, bone marrow biopsy, immunophenotype, cytogenetics, molecular test and NGS (next-generation sequencing) of the case were analyzed. @*Results@#The bone marrow smear showed markedly active proliferation of bone marrow cells in which the myelomonocytic cells accounted for 85.6%. Cytochemical stains showed peroxidase (POX) stain partially and weakly positive; specific esterase AS-DCE partially positive; non-specific esterase α-NBE partially positive and smothered by sodium fluoride; non-specific esterase AS-DAE partially positive and smothered by sodium fluoride. Bone marrow biopsy showed hyperproliferative cells and diffused hyperplasia of blasts. Immunophenotype analysis showed that the abnormal cell population was positive for CD11B, CD64, CD56, cMPO, CD33, CD41, CD61, CD38 and CD58, but negative for CD13, CD34, CD117, CD7, CD123, HLA-DR, CD10, CD19, CD20, CD2, CD14, CD235, CD15, CD303, CD304, CD25, cCD79a, cCD3, cCD22, CD1a and TDT. Cytogenetic analysis showed 47, XY, t(9;11) (p22;q23),+mar. The molecular test for leukemia showed MLLT3/KMT2A gene rearrangement. NGS showed NRAS and TET2 mutation. The case was finally diagnosed as AML (acute myelomonocytic leukemia) M 4C with t(9;11)(p22;q23), MLLT3-KMT2A. @*Conclusion@#Leukemia M 4C may show the characteristics of both granulocytes and monocytes with complex morphological features. The combined examination of MICM should be necessary for the diagnosis of M 4C with great significance.
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Objective To investigate the clinical efficacy of Bushen Tongdu Capsule for treating patients with rheumatoid arthritis (RA, TCM syndrome of kidney-deficiency with cold). Methods Totally 71 RA patients were randomly divided into treatment group (36 cases) that was treated with Bushen Tongdu Capsule and control group (35 cases) that was treated with tripterygium glycosides tablet. Both groups were treated for 12 weeks. The signs and symptoms, the state of illness, and laboratory index were observed before and after treatment. Results The total effective rate was 72.22% (26/36) in the treatment group, and 62.86% (22/35) in the control group, without statistical significance (P>0.05). After treatment, simplified disease activity index, TCM syndrome integrals, tender joint count, swollen joint count, overall evaluation from patients, overall disease evaluation from doctors, rest pain, morning stiffness time, average hands grip strength, 20 m walking time, healthy condition questionnaire score, and C-reactive protein were significantly improved in both groups (P<0.01, P<0.05). Compared with control group, TCM syndrome integrals changed more significantly, with statistical significance (P <0.05). Conclusion Bushen Tongdu Capsule can relieve symptoms and signs of RA patients (TCM syndrome of kidney-deficiency with cold) effectively.
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In recent years,with the criterion and scaling up of newborn screening work,not only the rates of neonatal congenital hypothyroidism screening increased year by year but also more and more neonatal hyperthyrotropinemia children have been found.How to correctly understand the neonatal hyperthyrotropinemia is still one of the problems in the clinical work.This article will review the causes,diagnosis,prognosis and treatment principles of hyperthyrotropinemia.
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To observe the influence of the placental apoptosis on the expression of Bax,Bcl-2, Fas, FasLand TNF-α during the second trimester of pregnancy, mice of experimental group were intraperitoneal injected with 100 purified Toxoplasma gondii tachyzoites added in 0.2mL of PBS, while those of the control group were injected with 0.2 mL of sterile PBS (0.01 mol/L, pH 7.4) in the 8-th day of pregnancy. During the 12, 14, 16 and 18-th days of pregnancy, 5 mice both in experimental and control group were randomly killed and the expression levels of the apoptosis-related proteins Bax, Bcl-2, Fas, FasL and TNF-α in the placental tissues were determined by means of immunohistochemical methods. It was showed that the apoptosis-related protein expressed both in villus and decidua of the placenta, most of which were expressed in syneytiotrophoblast (ST). The positive cells with expression of Bax, Fas, FasL and TNF-α increased along with the increase of the pregnant days in both the experimental group and the control group, and the positive cells with expression of Bcl-2 decreased along with the increase of the pregnant days. It was also demonstrated that the positive cells with expression of Bax, Fas, FasL and TNF-α of the experimental group showed a higher percentage of expression than that of the control group on the same pregnant days, but the positive cells with Bcl-2 expression of the experimental group were fewer than that of the control group. It is concluded that the expression of apoptosis-related protein Bax, Bcl-2, Fas, FasL and TNF-α in the placenta were altered when the pregnant mice were infected with Toxoplasma gondii during the second trimester, which may induce the apoptosis through the endogenic and ectogenic pathway.
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Objective:To evaluate the effect of fire needle with regulating respiration by mu point treatment and regulating zang by shu point treatment on humid-heat type of rheumatoid arthritis(RA).Methods:120 patients with RA were randomly divided into two groups:the treatment group received fire needle with regulating respiration by mu point treatment and regulating zang by shu point treatment,the control group were administrated with Dichronic tablets.The changes of rheumatoid factor(RF),erythrocyte sedimentation rate(ESR),C reactive protein(CRP),immune globulin and the indexes of swelling,aching,morning stiffness of joints were observed.Results:After treatment,the curative effect rate in the treatment group was higher than that in the control group(P