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.

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.