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Kallmann syndrome(KS) is a subtype of idiopathic hypogonadotropic hypogonadism(IHH), characterized by delayed puberty, undeveloped secondary sexual characters, accompanied by anosmia, or hyposmia. At present, more than 40 genes are related to the pathogenesis of IHH, and new gene loci have been found continuously. At the same time, digenic gene mutation or oligogenic mutation is considered to be an important pathogenic mechanism of IHH. The clinical phenotype of KS/IHH caused by different gene mutations is complex and diverse, and the response to treatment is also variable. This paper presents the clinical data and treatment of a case of KS caused by a compound double heterozygous mutation of WDR11 and PROKR2 genes. PROKR2 gene is a classic KS pathogenic gene, while the WDR11 gene is a relatively new type of KS pathogenic gene. Included with this case report is a literature review of characteristics of cases with WDR11 gene mutation.
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Objective To investigate the effect of chronic iodine excess on hypothalamic type Ⅱ deiodinase (D2) and serum thyrotropin releasing hormone (TRH) levels in rats. Methods One hundred and eighty four-week-old Wistar rats were randomly divided into control group (NI) and 3-fold, 6-fold, 10-fold, and 50-fold high iodine (HI) groups. Double distilled water and iodine solutions at concentrations of 277, 692, 1 245, and 6 788 μg/L were administered for 4, 8, 12, and 24 weeks, respectively. Brain tissue was taken after sacrifice, serum TRH levels were detected by ELISA, and hypothalamic D2 levels were detected by immunohistochemistry. Results Serum TRH levels in the 10-fold and 50-fold HI groups at 4 weeks, 6-fold and 50-fold HI groups at 8 weeks, 6-fold HI group at 12 weeks, and the 3-fold and 50-fold HI groups at 24 weeks were significantly lower than those in the control group (P ＜ 0.05). The results of immunohistochemistry revealed that the expression of hypothalamic D2 at each time-point was increased in the HI groups in comparison with the control group. Conclusion Chronic iodine excess can boost the expression of hypothalamic D2 and lessen the serum TRH level in rats.
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Objective To explore the influencing factors of glycemic variability in 217 cases of hospitalized patients with type 2 diabetes. Meth-ods A total of 217 cases of hospitalized patients with type 2 diabetes,whom received continuous glucose monitoring from January 2013 to Janu-ary 2016,were enrolled for the study. The evaluation variables of glycemic variability included mean amplitude of glycemic excursion(MAGE) and standard deviation of blood glucose(SDBG). Results The difference of glycemic variability was compared by gender,age,diabetic duration, HbA1c,BMI. The values of MAGE and SDBG in females were higher than those in males(P<0.05). There was no significant difference between various age groups and various diabetic duration. The level of glycemic variability increased gradually with the extension of HbA 1c(P<0.05). The level of glycemic variability increased gradually with the extension of body mass index(BMI)(P<0.05). Logistic regression analysis showed that gender(OR=0.67,P=0.02),HbA1c(OR=0.8,P=0.02),diastolic blood pressure(OR=0.9,P=0.03),triglycerides(OR=4.6,P=0.007),cholesterol(OR=0.6,P=0.007). HDL-C(OR=0.09,P=0.006)were significant influencing factors of glycemic variability in hospital-ized patients with type 2 diabetes. Conclusion Gender,HbA1c,BMI,and blood fat are significant influencing factors of glycemic variability while age and duration are not related to the glycemic variability in hospitalized patients with type 2 diabetes.
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Objective To investigate the epidemiological characteristics of non-toxic goiter and non-toxic thyroid nodules in the regions with different iodine intakes and the factors influencing the occurrence, development and outcome of goiter and thyroid nodules. Methods 3 385 subjects, who had taken part in the previous survey in 1999 with the ultrasonic examination of thyroid, were composed of individuals in Panshan with chronic mild iodine deficiency,in Zhangwu with more than adequate iodine "after iodine supplementation and in Huanghua with excessive iodine. These 3 groups of subjects were followed up in 2004. Results (1) The cumulative incidences of diffuse goiter in Panshan ,Zhangwu and Huanghua were 7.1% ,4.4% and 6.9% ,respectively ,being the lowest in Zhangwu (P<0.01) and those of nodular goiter were 5.0% ,2. 4% and 0.8%, respectively, being the highest in Panshan (P<0.01). (2) The incidences of single nodule were 4.0% ,5.7% and 5.6%, respectively, and those of multiple nodules 0.4%, 1.2% and 1.0%, respectively. (3)The result of logistic analysis showed that iodine deficiency,iodine excess and positive thyroid autoantibodies (TAA) were the independent risk factors for the occurrence of goiter. (4)In Zhangwu ,the incidence of non-toxic goiter in the group with positive TAA was higher than that in the group with negative TAA(P<0.01) ,while there were no such differences in Panshan and Huanghua. (5)In these three regions, the rates of positive TAA in the individuals with diffuse non-toxic goiter were higher than those in the healthy subjects (P<0.05). And in Huanghua,the rate of positive TAA in subjects with non-toxic nodular goiter was also higher than that in the healthy individuals (P<0.05). Conclusion Iodine deficiency and iodine excess may both induce the raising incidence of goiter. Nodular goiter is prevalent in iodine deficient district and diffuse goiter is the predominant form in places with iodine excess. Thyroid autoimmunity is associated with occurrence and maintenance of goiter, and this phenomenon is more obvious in the community with previous iodine deficiency followed then by treatment with more than adequate iodine.
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Objective To study the relationship between hyperhomocysteic acid(HHcy) and artherosclerosis.Methods 20 male rabbits were randomly divided into control and experiment groups(n=10).HHcy models were made by hypodermical injection of DL-methionine for 7 weeks.After 7 weeks homocysteic acid(Hcy),IL-1?,IL-6,and IL-8 in serum of rabbits in two groups were measured by enzyme linked immunosorbent assay(ELISA).And the pathomorphological changes of aorta were observed with HE staining.The number of NF-?B positive cells in the aorta were counted by immunohistochemical method.Results The levels of Hcy,IL-1?,IL-6 and IL-8 in experiment group were higher than those in control group(P
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Objective To observe the effects of ilexonin A (IA) on IL-6 and M-CSF following ballon angioplasty in rabbit common carotide artery to provide experimental basis for percutaneous coronary interventions. Methods 30 Japanese rabbits were fed with high cholesterol food for 4 weeks. Then they were divided into three groups randomly. Each group had ten rabbits. ①Control group: the incision was sew directly after right carotide artery of the rabbit was seeked. ②Balloon dilation group:the proximal of the carotide artery was cuted,the ballon was delivered and distended,after it was drawn repeatly,the incision was closed. ③IA therapy group: operation was the same to the balloon dilation group,then IA was administered in vein.All of them were fed with high cholesterol diet for 4 weeks and the blood samples were collected 1 d before the operation and 1 d,1,2,4 weeks after the operation. The serum IL-6 and M-CSF levels were determined with radioimmunoassay.The pathological changes of injuried artery were observed. Results ①The IL-6 level in balloon dilation group was higher than that in IA therapy group after the operation (P
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Objective To observe the effect of coronary artery disease on QT dispersion (QTd). Methods The QTd and QTcd in 245 patients underwent percutaneous coronary angiography (CAG) were analyzed. It was evaluated The relations between the QTd and the degree of coronary stenosis and the number of disease vessels. Results The QTd and QTcd were significantly prolonged in patients with coronary artery stenosis than those in patients with normal coronary artery(P0.05). Conclusion There is no relation between the number of disease coronary artery and the QTd.
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Objective To evaluate the values of integrated backscatterr (IBS) and dobutamine stress echo- cardiography (DSE) in the diagnosis of coronary artery disease(CAD).Methods Thirty-one suspected CAD patients received DSE and IBS analysis before selective coronary angiography(SCA).Using SCA results as the golden standard of the diagnosis,the diagnostic sensitivity(Se),specificity(Sp),and accuracy rate (Ac) of conventional eye-view and DSE-cyclic variation integrated backscatter (CVIB) were compared. Results The CVIB of myocardial segments perfused by stenotic coronary artery was smaller than that of segments perfused by patent coronary artery during high dose of DSE. For conventional DSE eye-view method, the Se,Sp,and Ac were 80%,72% and 77%, while that of DSE-CVIB were 90%,72% and 83%, respectively. Conclusion IBS is a valuable method in assessing the myocardial wall motion in DSE, and the combination of the two methods can improve the diagnostic accuracy rate of CAD.
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Objective: Our purpose was to understand the effect of transforming growth factor-β(TGF-β) in pathogenesis and development of diabetic nephropathy (DN). Methods: Serum TGF-β was measured with enzyme-linked immunosersorbent assay(ELISA). Results: The serum level of TGF-β in diabetic patients with no DN was not different from that in normal persons(12.7±5.0 pg/ml, 12.6±4.4 pg/ml, P >0.05). Serum TGF-β level in DN patients with urinary albumin clearance (20 to 200 μg/min，not include 200) was significantly higher than that in diabetic patients with no DN (65.3±13.0 pg/ml, 12.7±5.0 pg/ml, P<0.01). Serum level of TGF-β in DN patients with urinary albumin clearance (≥200 μg/min) was significantly higher than that in the patients with trace urinary albumin （136.4±21.4 pg/ml, 65.3±13.0 pg/ml, P<0.01）, and serum level of TGF-β was positively correlated with urinary albumin clearance. Conclusion: The serum level of TGF-β has increased in early stage of DN. With the development of DN, the serum level of TGF-β significantly increased. The alteration of serum level of TGF-β was positively correlated with urinary albumin clearance. So TGF-β play a very important role in pathogenesis and development of diabetic nephropathy. We can regard serum level of TGF-β as a diagnostic target of DN in early stage.