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Klinefelter syndrome(KS) is the most common sex chromosome disorder in males,which is caused by the presence of the extra X chromosome that maybe inherited from mother or father. Approximately 80% karyotype of the cases is 47,XXY. KS is characterized by small firm testes, hypergonadotropic hypogonadism, infertility,gynaecomastia, increased height. However, cognitive disabilities and psychiatric disorders are rarely diagnosed in KS because they lack screening in related aspects. At the present, the pathogenesis of cognitive disabilities and increased risk of psychiatric diseases in KS have not been delineated. In this article,we report two cases of KS,and review their clinical manifestations,diagnosis,and treatments.
ABSTRACT
Kallmann syndrome ( KS) is a rare disease and characteristic of an absence of puberty, infertility, and a defective sensation of smell (anosmia or hyposmia). Here, we analyze the features of a case of KS diagnosed clinically. In addition, the etiology, genetic features, clinical manifestations, diagnosis, and treatment of KS were reviewed.
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The effect of AMP-activated protein kinase (AMPK) on KiSS-1 mRNA levels was detected by realtime PCR in the hypothalamic GT1-7 neurons. The promoter activity of KiSS-1 gene was detected by DualLuciferase Reporter Assay System.The effects of AMPK on the protein expression and subcellular distribution of SP1 were determined by Western blot.The results showed that AMPK reduced the mRNA expression and promoter activity of KiSS-1 gene while SP1 increased the promoter activity of KiSS-1 gene. Besides,AMPK alse decreased the translocation of SP1.These results suggest that AMPK may inhibit the expression of KiSS-1 gene by decreasing the translocation of SP1 from cytoplasm to nucleus in the hypothalamus GT1-7 neurons.
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Mild cognitive impairment (MCI) is an important risk factor for Alzheimer's disease.It is of great value to investigate the etiology and pathogenesis of MCI.Studies have shown that diabetes may cause damage to both the structure and function of brain tissue,resulting in MCI.We published one article in Diabetes Care titled Serum level of endogenous secretory receptor for advanced glycation end products and other factors in type 2 diabetes patients with mild cognitive impairment to elaborate the relationship between diabetes and MCI.
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Objective To study clinical feature and therapeutic choice of pituitary adenomas. Methods The clinical data of 239 cases of pituitary adenomas were analyzed. Results Total 93 male and 146 female cases were recruited. The average age was (43.8 ± 14.9 ) years old (3.9-77 years). Prolactinomas were the most common pituitary adenomas (26.8%) , 179 patients (74.9%) underwent surgery, of which 108 (60.3%) with transsphenoidal approach and 71 (39.7%) transcranial approach. The other 60 cases were treated nonsurgically. Conclusions Pituitary adenomas may present hormonal abnormalities or neurological symptoms.Some adenomas were accidently detected by MRI. Prolactinomas were the most common pituitary adenomas.
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Montreal cognitive assessment(MoCA, Beijing Version) was chosen as cognition assessment implement. 63 patients suffering from type 2 diabetes mellitus with mild cognitive impairment (MCI) were chosen to form a research group, and 27 patients with type 2 diabetes mellitus and normal cognitive function served as a control group. It was found that atherosclerosis played an important role in the pathogenesis of MCI in type 2diabetes, therefore, early prevention and management of atherosclerosis may help to improve the cognitive function.
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Objective To study the assessment implement and its related factors in type 2 diabetic patients with mild cognitive impairment(MCI).Methods Montreal Cognitive Assessment(MoCA)(Beijing Version)was chosen as cognition assessment implement.58 type 2 diabetic patients with MCI were enrolled as the research group and 30 type 2 diabetic patients with normal cognitive function as control.HbA_(1C),blood lipid,urine microalbumin,liver and renal functions were measured in all subjects.Results Compared with control group,the blood levels of HbA_(1C)[(10.48±2.38 vs 9.28±2.19)%,P<0.05],total cholesterol[(4.87±1.18 vs 4.18±1.04)mmol/L,P<0.01],and low-density lipeprotein-cholesterol[LDL-C,(2.97±0.87 vs 2.37±0.61)mmol/L,P<0.01]increased,and high-density lipoprotein-cholesterol decreased[(1.084±0.34 vs 1.25±0.33)mmoL/L,P<0.05]in MCI group.There were significant differences in the duration of diabetes mellitus,diabetic retinopathy,body mass index,and abdominal circumference between MCI group and control group(all P<0.05).There were no significant differences in blood triglycerides,alanine aminotransferase(ALT),aspartate aminotransferase(AST),creatinine,and urine microalbumin between the two groups.MoCA scores were negatively correlated with HbA_(1C)(r=-0.396,P=0.002)and LDL-C(r=-0.275,P=0.036)in MCI group.Multiple regression analysis showed that HbA_(1C) was a significantly independent determinant for the MoCA scores.Conclusion The risk factors such as longer duration of diabetes mellitus.more diabetea mellitus complications,obesity,dyslipidemia,and inefficient control of blood glucoge all contribute to the development and aggravation of cognitive impairment.Therefore,good control of blood glucose and lipids,and reduction of complication and body weight may help to improve the cognitive function.
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Objective To investigate the relationship between the single nucleotide polymorphisms of exon 6 C161→T of peroxisome proliferators activated receptor γ(PPART)gene and osteoporosis in elderly male. Methods Polymerase chain reaction restriction-fragment length polymorphism(PCR-RFLP)was used to analyze the gene frequency distribution in the groups of nonosteoporosis and osteoporosis in elderly male.Bone mineral density of lumbar and hip(neck of femur,greater trochanter,Ward's triangle)were measured by dual energy X-ray absorptiometry.Serum osteocalcin level was measured by enzyme-labeled immunosorbent assay(ELISA). Results The exon 6 of PPARγ had 3 genotypes(CC,CT and TT).The frequency of T allele in osteoporosis was higher than that in non-osteoporosis.Compared with the control group,serum bone glaprotein level and bone mineral density was lower in osteoporosis group.The bone mineral density in the genotype of CT and TT groups were lower than that in the genotype of CC group. Conclusions The study shows that the single nucleotide polymorphisms of 6th exons of PPARγ may relate to osteoporosis in elderly male.T allele of PPARγ may be a predisposing factor of osteoporosis in elderly male.PPARγmay be a candidate gene of osteoporosis in elderly males.
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Objective To investigate the association of interleukin 1 receptor antagonist (IL 1Ra) gene polymorphism with osteoporosis in Chinese old men. Methods The allele frequency and the genotype distribution of the second intron of IL 1Ra gene in the groups of senile control (normal bone mineral density, n=65) and senile men with osteoporosis (n=68) were detected by polymerase chain reaction (PCR). Results The frequencyofA 2alleleincontrolgroup was higher than that in osteoporosis group (0.192 vs 0.103, P