Objective To test amyloid beta protein(Aβ)40 and Aβ42 levels in CSF and apolipoprotein E (ApoE) genotype in patients with Alzheimer's disease(AD) and study whether or not the Aβ is related to the severity of dementia and the genotypes of ApoE.Methods 48 AD patients including 27 cases of mild type and 21 cases of serious type and 35 normal controls were selected.Aβ40 and Aβ42 in CSF and ApoE genotype were analyzed.Results Aβ40 levels were ( 12.3 ±4.6) μg/L,( 11.7 ±4.1 ) μg/L,( 12.6 ±4.9) μg/L and ( 11.0 ±3.7) μg/L(t = 1.377,0.705 and 1.385 ,all the p values were greater than 0.05) and Aβ42 levels were ( 105.3 ±25.4) ng/L,(110.7 ±21.7) ng/L,(96.9 ±23.9) ng/L and (123.5 ±29.6) ng/L(t=3.006,2.832,and 3.488,all the p values less than 0.01 ),in AD group,mild AD group,moderate to serious AD group and normal controls,respectively.Aβ40 levels were (11.9 ± 5.2) μg/L vs.(10.5 ± 3.8) μg/L in AD and controls with ApoEε4(t=0.696,P＞0.05) and (12.6 ±4.5) μg/L vs.(11.4 ±3.4) μg/L without ApoEε4(t = 1.008,P＞0.05).Aβ42 levels were (99.7 ± 23.8) ng/L vs.( 129.6 ± 31.0) ng/L in AD and controls with ApoEε4( t =1.632,P ＞ 0.05 ) and ( 110.4 ± 28.4) ng/L vs.( 129.6 ± 31.0) ng/L in those without ApoEε4 ( t = 2.110,P ＜0.05 ).Conclusions The CSF level of Aβ is abnormal in AD,and it is related to the severity of the disease and the ApoE genotypes.

A male patient aged 1 year and 8 months with type 2 spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL2) was reported. The clinical characteristics included short stature, flat middle face, hypotonia, limb joint relaxation, hyperextension of metacarpophalangeal articulation, etc. In addition, the patient had a history of congenital laryngeal stridor. Thus, SEMDJL2 was determined according to the above symptoms and medical history. Sanger sequencing showed that the child carried a c.443C>T missense mutation in the KIF22 gene, which resulted in an amino acid variation namely p.Pro148Leu. This phenotype was preliminarily determined as a pathogenic mutation. Therefore, it is suggested that next-generation sequencing genetic testing could be helpful for genetic diagnosis in children with congenital laryngeal stridor, systemic joint relaxation, and excessive joint extension.

Background and objective Residual carcinoma cells play an important role in the result of radi of requency ablation (RFA) of pulmonary malignancies, and Platinum-based adjuvant chemotherapy is one of the important treatment regimen to reduce residual carcinoma cells after RFA. ERCC1 (excision repair cross-complementation group 1) is an important factor affecting Platinum-based chemotherapy effects. Residual carcinoma cells exhibit some changes of their features after RFA; however, there is no report about the change of their ERCC1 expression by now. This study focused on the change of ERCC1 expression in residual VX2 squamous carcinoma cells in rabbit lung after RFA. Methods The model of VX2 squamous carcinoma in rabbit lung was established by injection of tissue block suspension. Fifty-eight New Zealand White rabbits with VX2 squamous carcinoma were randomly devided into the control group (n=10) and the RFA group (n=48). During the RFA procedure in these models, residual carcinoma cells were achieved by controlling the range of electrode expanding, power output and treatment time. At different points of time, the positive rates of ERCC1 expression in residual carcinoma were detected by immunohistochemistry. Results Comparing with the control group, the positive rate of ERCC1 expression in residual carcinoma in RFA group increases transiently within 1d to 5d (53.7%±1.6% & 32.9%±2.5%), and 5d later, it decline to the level of the control group. Conclusion The ERCC1 expression of residual pulmonary carcinoma increase within 5d after RFA. Thus platinum-based adjuvant chemotherapy may be ineffective in this period.

Objective:To investigate the serum and follicular fluid levels of sterol regulatory element-binding protein 1c(SREBP-1c), leucine-rich α-2-glycoprotein 1(LRG1) and the correlation with insulin resistance(IR) in non-ovarian etiology infertility patients and polycystic ovary syndrome(PCOS) patients with or without IR.Methods:Forty-nine PCOS patients and 66 infertility patients with non-ovarian etiology were collected in this retrospective study, homeostasis model assessment for insulin resistance(HOMA-IR) was used to evaluate IR, and were divided into control group( n=36), IR group( n=30), PCOS alone group( n=28) and PCOS-IR group(PCOS with IR group, n=21). The concentrations of serum, follicular fluid LRG1 and SREBP1c levels in each group were compared, and their correlation with relevant hormones and glycolipid metabolism were analyzed. Results:The levels of serum, follicular fluid LRG1 and SREBP1c in IR group, PCOS alone group and PCOS-IR group were significantly higher than those in control group; The PCOS-IR group showed a more significant increase in the levels of serum, follicular fluid LRG1 and SREBP1c( P<0.05). Correlation analysis showed that serum, follicular fluid LRG1 was positively correlated with body mass index, fasting plasma glucose(FPG), fasting insulin(FINS), triglycerides(TG), and HOMA-IR( P<0.05). Serum, follicular fluid SREBP1c was positively correlated with body mass index, FPG, FINS, TG, total cholesterol, LDL-C, LH, total teststerone, DHEAS, FAI, and HOMA-IR( P<0.05). Binary logistic regression analysis showed that serum SREBP1c was a risk factor for PCOS( P<0.05). Conclusion:The serum and follicular fluid levels of LRG1 and SREBP-1c were elevated in PCOS patients, especially in those with IR. The elevated levels of serum and follicular fluid LRG1 and SREBP-1c may be associated with IR and glucose-lipid metabolism abnormalities in PCOS patients. Serum LRG1 and SREBP-1c levels may serve as new indicators for predicting IR, early diagnosis, and intervention in PCOS patients.

Objective:To investigate the association of serum fibroblast growth factor 23(FGF23) level with insulin resistance(IR) and sex hormone levels in patients with polycystic ovary syndrome(PCOS).Methods:A retrospective study was performed in eighty-seven patients with PCOS, fifty-seven patients with simple IR, and sixty-one healthy women who were admitted to Affiliated Hospital of Zunyi Medical University during October 2021 and November 2022. According to the homeostasis model assessment-IR index, all subjects were divided into normal control group( n=61), IR group( n=57), PCOS without IR group(PCOS group, n=15), and PCOS+ IR group( n=72). The levels of serum FGF23, adiponectin, and sex hormones in all groups were compared, and their correlations with glucose and lipid metabolism indicators were analyzed. Results:The FGF23 level was significantly elevated in the IR group, while markedly reduced in the PCOS group and PCOS+ IR group, with the PCOS group showing a significantly lower concentration. The adiponectin levels were significantly decreased in the IR group, PCOS group, and PCOS+ IR group(all P<0.05). The correlation analysis showed that FGF23 level was positively correlated with adiponectin and sex hormone binding globulin, and negatively correlated with luteinizing hormone, luteinizing hormone/follicle stimulating hormone, and free testosterone index(all P<0.05). Logistic regression results indicated that both FGF23 and adiponectin could be used as good indicators for the diagnosis of PCOS and PCOS with IR(all P<0.05). Conclusion:FGF23 is closely related to IR and androgen as well, and under certain conditions, it can reflect the severity of IR and hyperandrogenemia in PCOS patients. The cutoff value of FGF23 obtained in this study can provide a good reference for the diagnosis of PCOS diseases.