Diagnosis and Treatment of Familial Hypokalemic Periodic Paralysis with Acidosis / 中山大学学报(医学科学版)

ObjectiveTo investigate the diagnosis and treatment of familial hypokalemic periodic paralysis with acidosis. MethodsThe proband's medical history， clinical manifestations， laboratory examinations and imaging characteristics were retrospectively analyzed， and prevalence situation of family members was investigated in detail. Next generation sequencing technology was used to detect the pathogenic gene loci related to periodic paralysis， and the relevant literatures were summarized. ResultsThe proband was definitely diagnosed as familial hypokalemic periodic paralysis. There was a heterozygous mutation in the SCN4A gene of the proband， which was c.2006G>A， resulting in amino acid changes R669H.The proband's grandfather， father and uncle shared the same variation. ConclusionsFamilial hypokalemic periodic paralysis with paroxysmal acidosis is rare， which is easily misdiagnosed as renal tubular acidosis. c 2006G>A mutation in SCN4A gene is the molecular basis of the disease in this family. The clinical phenotypes of different gene mutations are different， and gene screening is helpful for diagnosis and treatment.

Clinical management of primary hypomagnesemia with secondary hypocalcemia / 中华内分泌代谢杂志

Primary hypomagnesemia with secondary hypocalcemia(HSH) is a rare cause of hypoparathyroidism. This article presents a case of a 26-year-old male with recurrent generalized weakness and tetany, and a literature review of diagnosis and treatment of primary HSH. The biochemical tests revealed the patient had severe hypomagnesemia, mild hypocalcemia, hypokalemia, and hypoparathyroidism. Transient receptor potential melastatin-6(TRPM6) gene mutation were detected by gene test, which confirmed the diagnosis of primary HSH. The patient had been treated with long term oral magnesium supplementation, who remained asymptomatic during the follow-up. Primary HSH is a rare autosomal-recessive disorder caused by mutations in the TRPM6 gene which encoding a magnesium permeable channel expressed in the intestine and the kidney. The primary defect is impaired intestinal absorption of magnesium with secondary renal excretion, leading to a series of clinical symptoms. The treatment is mainly through lifelong magnesium supplementation.

Approach to the patient with syndrome of pituitary resistance to thyroid hormone / 中华内分泌代谢杂志

Syndrome of resistance to thyroid hormone(RTH)is a rare hereditary thyroid disease with various clinical manifestations and laboratory findings. RTH could be misdiagnosed and mistreated, resulting in aggravation of the disease. We reviewed the medical records of a patient with RTH over the past six years. In addition, we provided a summary of latest progress for RTH to help the clinicians to improve the understanding of the disease.

Serum Gamma-Glutamyltransferase Level Is Associated with Framingham Risk Score / 中山大学学报(医学科学版)

@#【Objective】Serum gamma-glutamyltransferase（GGT）has recently been implicated in the pathogenesis of atherosclerosis and coronary heart disease（CHD）. We aimed to evaluate the association between the serum GGT level and the 10-year risk score for CHD（Framingham Risk Score，FRS）in a Chinese population.【Methods】We conducted a population-based cross-sectional study in 9，544 Guangzhou residents aged 40 years and older. Participants were divided into four quartiles according to their GGT levels：Quartile 1 <15 U/L（n=2 407），Quartile 2 15~19.9 U/L（n=2 302）， Quartile 3 20~28.9 U/L（n=2 442），and Quartile 4 ≥29 U/L（n=2 393）. The multivariate logistic regression analysis was used to assess the incidence of intermediate and high risk of developing CHD at 10 years（FRS≥10%）in relation to each quartile increase of serum GGT level.【Results】The incidence of FRS≥10% increased with elevating serum GGT levels（P for trend<0.001）. Compared with the lowest quartile of serum GGT level ，the adjusted odds ratio in the highest quartile was 1.72（95% confidence interval 1.28 to 2.29）.【Conclusion】Serum GGT level is associated with the FRS for CHD ，and might be used as an adjuvant marker for identifying patients at increased risk of cardiovascular events and early intervention.

Approach to the patient with aldosterone-producing adrenocortical carcinoma / 中华内分泌代谢杂志

Aldosterone-producing adrenocortical carcinoma (ACC) is a rare endocrine malignancy. Only a few cases are reported in China. This systematic review investigated the diagnosis and treatment strategy of aldosterone-producing ACC through a recent case of the disease. A case of a 49-year-old female who diagnosed with aldosterone-producing ACC by hormonal assays, medical imaging and pathology. Her condition has been alleviated after surgery. Aldosterone-producing ACC is a rare malignancy with limited treatment options and surgery is the primary treatment strategy.

Clinical Observation on Modified Sanzi Yangqin Decoction in Treatment of Obstructive Sleep Apnea-Hypopnea Syndrome / 中国中医药信息杂志

Objective To observe the clinical efficacy of modified Sanzi Yangqin Decoction for the treatment of obstructive sleep apnea-hypopnea syndrome (OSAHS). Methods Totally 80 cases of OSAHS patients were randomly divided into treatment group and control group, with 40 cases in each group. Both groups received intervention of diet and life. The control group was given vitamin C, 100 mg each time, 3 times a day orally. Treatment group was given modified Sanzi Yangqin Decoction, 1 dosage per day, twice a day, orally, for 14 d. The scores of TCM symptoms, sleep apnea (AHI), lowest oxygen saturation (LSaO2) and longest apnea were observed before and after treatment. Results The overall effective rate of TCM syndrome was 90% (36/40) in the treatment group and 65% (26/40) in the control group, with statistical significance (P<0.05). Compared with before treatment, there was statistical significance in the scores of TCM symptoms, AHI, LSaO2, and longest apnea (P<0.05,P<0.01). After the treatment, compared with the control group, there was statistical significance in the scores of TCM symptoms, AHI, and LSaO2 in the treatment group (P<0.05,P<0.01). Conclusion Modified Sanzi Yangqin Decoction can effectively treat OSAHS and improve the life quality of patients.

Relationship between Diabetic Retinopathy and Peripheral Arterial Disease in Type 2 Diabetes Patients / 中山大学学报(医学科学版)

[Objective]To explore the relationship between peripheral arterial disease(PAD)and diabetic retinopathy(DR)in type 2 diabetes patients.[Methods]A total of 99 patients diagnosed with PAD were classified into grade 1-3 by their total scores of peripheral arterial stenosis assessed by color doppler ultrasound examinations,where the degree of stenosis 30% ~ 49% scored 0, 50%~99%scored 1,lumen occlusion(i.e. degree of stenosis 100%)scored 2,and therefore the total score 0-2 was categorized into Grade 1 ,3~4 into Grade 2 ,5~12 into Grade 3. The bilateral anterior tibial artery ,posterior tibial artery and dorsalis pedis artery of these patients were analyzed. The presence of diabetic retinopathy(DR)was graded from retinal photographs using a standard protocol.[Results]Among 99 cases of type 2 diabetic patients with peripheral arterial disease ,58.6%of them were male with average age of 67.3 ± 7.9 years old. Patients of Grade 1,Grade2,Grade 3 lesion accounted for 45.4%,30.3%,24.2%,respectively. Age, gender,smoking history,SBP,DBP,BMI,FBG,TC,TG,LDL-C,HDL-C,HbA1C among 3 groups were not statistically signifi-cant. The associations of DM duration and HbA1C value were significantly larger in DR than in PAD. The proportion of DR patients increased with the severity degree of PAD(p for trend=0.004). Degree of stenosis Grade 2 and Grade 3 could be predictive for DR.[Conclusions]DR is associated with the severity degree of PAD in type 2 diabetes patients as evaluated by duplex ultrasonography.Degree of stenosis Grade 2 and 3 could be used for screening or finding DR. Strategies for optimum treatment and early prevention are needed.

A three-year follow-up on patients with T2DM on drug therapy in Shihezi communities / 实用医学杂志

Objective To explore the changes of the constituent ratio of hypoglycemic scheme and clinical outcomes of patients with type 2 diabetes mellitus(T2DM)in recent three years in Shihezi. Methods The cluster random sampling methods were used to select 300 patients with T2DM who met the standards in November 2012 from 13 communities in Shihezi. The datasets including general demographic information ,treatment and clinical outcomes were collected by following them up for three years. Results From 2012 to 2015,the proportion of pa-tients with oral drugs decreased from 63.5％ to 51％ while increased from 30.8％ to 41.8％ with insulin treatment. For the patients with insulin treatment ,the rate of patients on single drug therapy declined significantly (χ2 =8.77,P<0.05),while significantly increased on insulin combined with oral drug(χ2=-10.27,P<0.01). The incidence of adverse effects increases from 16.8％ to 24.5％. As compared with 2012,blood sugar levels and con-trol rate had no obvious changes in 2015;namely,according to the standard(1),the control rate of blood glucose in 2015 was 41.2％,decreasing 4.0％as compared with 2012,while according to the standard(2),it increasd by 1.4％ from 2012 to 2015(52.9％). The rate of diabetic complications significantly increased from 2012 to 2015. Conclusions Oral drugs are mainly used in the treatment of T2DM in Shihezi communities,whereas the rate of insulin use elevates. The blood glucose control rate,medication safety,and ability to lower the rate of diabetic com-plications need to be improved in T2DM patients in Shihezi communities.

A three-year follow-up on patients with T2DM on drug therapy in Shihezi communities / 实用医学杂志

Objective To explore the changes of the constituent ratio of hypoglycemic scheme and clinical outcomes of patients with type 2 diabetes mellitus(T2DM)in recent three years in Shihezi. Methods The cluster random sampling methods were used to select 300 patients with T2DM who met the standards in November 2012 from 13 communities in Shihezi. The datasets including general demographic information ,treatment and clinical outcomes were collected by following them up for three years. Results From 2012 to 2015,the proportion of pa-tients with oral drugs decreased from 63.5％ to 51％ while increased from 30.8％ to 41.8％ with insulin treatment. For the patients with insulin treatment ,the rate of patients on single drug therapy declined significantly (χ2 =8.77,P<0.05),while significantly increased on insulin combined with oral drug(χ2=-10.27,P<0.01). The incidence of adverse effects increases from 16.8％ to 24.5％. As compared with 2012,blood sugar levels and con-trol rate had no obvious changes in 2015;namely,according to the standard(1),the control rate of blood glucose in 2015 was 41.2％,decreasing 4.0％as compared with 2012,while according to the standard(2),it increasd by 1.4％ from 2012 to 2015(52.9％). The rate of diabetic complications significantly increased from 2012 to 2015. Conclusions Oral drugs are mainly used in the treatment of T2DM in Shihezi communities,whereas the rate of insulin use elevates. The blood glucose control rate,medication safety,and ability to lower the rate of diabetic com-plications need to be improved in T2DM patients in Shihezi communities.

Serum levels of VEGF, TGF-β1 and CTRP3 in type II diabetic rat with atherosclerosis and the interventional mechanism of simvastatin / 天津医药

Objective To investigate the serum expressions of vascular endothelial growth factor (VEGF), transforming growth factor-β1 (TGF-β1) and C1q/tumor necrosis factor-related protein 3 (CTRP3) in type II diabetic rats with atheroscle?rosis and to undermine the interventional mechanism of simvastatin. Methods SD rats were randomly divided into normal diet (NC) group (n=8), high-fat diet (HFD) group (n=8), high-fat diet intervention (HFD+S) group (n=8), model (M) group (n=18) and model intervention (M+S) group (n=16). The diabetic atherosclerosis model was established by streptozotocin (STZ)+Vitamin D3(VitD3)+High-fat diet. The group HFD+S and group M+S rats were administrated with simvastatin at 20 mg/(kg·d)intragastrically as intervention while distilled water [20 mL/(kg·d)] were given to other groups. Serum levels of fasting plasma glucose(FPG), blood lipid, fasting insulin(FINS), VEGF, TGF-β1 and CTRP3 were compared between each groups. Results Characteristics of atheromatous plaque were seen in group M and group M+S whose pathological change were markedly attenuated compared to group M. Serum levels of VEGF, TGF-β1 and CTRP3 were significantly high?er in rats from Group HFD than those in rats from group NC. Serum levels of VEGF and TGF-β1 were significantly higher in rats from Group M than those in rats from group NC. Serum level of VEGF was significantly higher in rats from Group M than it in rats from group HFD. Serum level of CTRP3 was significantly lower in rats from Group M than it in rats from group HFD. Moreover, serum levels of TGF-β1 and CTRP3 were significantly higher in rats from Group HFD+S than those in rats from group HFD after the intervention with simvastatin. Serum level of VEGF was significantly lower in rats from Group M+S than it in rats from group M, and serum levels of TGF-β1 and CTRP3 were significantly higher in rats from group M+S than those in rats from group M after the intervention with simvastatin. Conclusion VEGF, TGF-β1 and CTRP3 may partici?pate in development of diabetic atherosclerosis. In addition to its hypolipidemic role, Simvastatin can also down regulate se?rum level of VEGF and up regulate serum levels of TGF-β1 and CTRP3 to exert a significant protective effect on diabetic atherosclerosis.

Association of serum testosterone with atherosclerosis in middle-aged and elderly men / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the association between the level of serum testosterone and atherosclerosis in middle-aged and elderly men.</p><p><b>METHODS</b>We conducted a population-based study of 413 males aged 40-75 years in a community in Guangzhou. We obtained the sociodemographic characteristics, clinical data, physical measurements, and laboratory results of sex hormones, blood glucose, and blood lipid of the subjects. We also measured the carotid intima media thickness (CIMT) by color Doppler ultrasonography.</p><p><b>RESULTS</b>The subjects were divided into a carotid atherosclerosis (CAS) group (CIMT ≥ 0.9 mm) and a non-CAS group (CIMT < 0.9 mm). The medians of free testosterone (FT) were 57.41 and 59.72 pmol/L in the CAS and non-CAS groups, respectively (P = 0.005), and no significant difference was found between the two groups in total testosterone (TT). The levels of serum FT and TT were negatively correlated to CIMT, with Spearman's rank correlation coefficients of -0.126 (P = 0.011) and -0.188 (P < 0.001), respectively. The incidence rates of CAS were 23.30, 13.46, 17.48, and 7.77% in the Q1, Q2, Q3, and Q4 groups, respectively according to the quartile of FT (P for trend = 0.008) and 17.48, 18.27, 16.50, and 9.71% respectively according to the quartile of TT (P for trend = 0.116). Based on the quartile of FT and after adjustment for age, waist circumference, systolic blood pressure, and HbAlc, the risk of CAS was significantly increased in the Q1 group as compared with Q4 (OR = 2.491, 95% CI 1.01-6.149), but no statistically significant differences were observed according to the quartile of TT.</p><p><b>CONCLUSION</b>A low serum FT level may be a risk factor of atherosclerosis in Chinese men aged 40 years or older.</p>

The baseline characteristics of patients with type 2 diabetes initiating insulin detemir:the Chinese cohort from the SOLVETM study / 中华内科杂志

Objective To characterize the baseline status of Chinese diabetic patients based on data derived from Chinese cohort from SOLVETM study.Methods Patients with type 2 diabetes initiating basal insulin detemir at the decision of the physician were eligible for the study.Data on demographics,medical history,glycemic profile and treatment regimen at baseline were collected by physicians.Results A total of 3272 patients [female 42％,male 58％,mean age (56.2 ± 10.8) years] were included in the study.Their BMI was (25.3 ± 3.3) kg/m2.The duration of diabetes was 4.0 (0.1-27.0) years,and the duration of treatment with oral antidiabetic drugs (OADs) was 3.0(0.0-20.2) years.The proportions of subjects with diabetic macro-and micro-vascular complications were 15.8％ (515 cases) and 27.1％ (866 cases),respectively.The hemoglobin Al c (HbAl c) at baseline was (8.33 ± 1.70) ％,and the fasting blood glucose (FPG) was (9.5 ± 2.6) mmol/L.Conclusions A large proportion of patients with type 2 diabetes remain in poor glycemic control,and the prevalence of diabetic complications is high,which requires optimal therapeutic strategy for the patients with suboptimal glycemic control.

Isolation, purification and functional identification of Syrian golden hamster islets / 南方医科大学学报

<p><b>OBJECTIVE</b>To establish the methods for isolation, purification and function identification of Syrian golden hamster islets.</p><p><b>METHODS</b>The Langerhans islets were isolated and purified from golden hamster pancreas by intra-ductal collagenase V perfusion and discontinuous Ficoll density gradient centrifugation. After isolation, the islet yield and purity were evaluated with DTZ staining. The islet function was assessed using glucose-stimulated insulin secretion test.</p><p><b>RESULTS</b>The total number of purified islets from one donor hamster was 359-/+35 islet equivalent (IEQ), with the purity and viability of the isolated islets of more than 90%. In response to glucose stimulations at 5.8 and 16.7 mmol/L, the secretion of insulin by the islets was 3.29-/+0.3 and 11.12-/+0.57 mU/L, respectively, showing a 2.28-fold higher insulin release by high-concentration than by low- concentration glucose stimulation (P<0.01).</p><p><b>CONCLUSION</b>The methods of collagenase V digestion and gradient centrifugation result in high yield and high purity of the isolated hamster islets.</p>

Combined effects of antisense TBRI eukaryotic expressing plasmid and antisense TIMP-1 eukaryotic expressing plasmid on rat liver fibrosis / 中华肝脏病杂志

<p><b>OBJECTIVE</b>To test the hypothesis that the introduction of antisense transforming growth factor beta receptor I (TBRI) plasmid and antisense tissue inhibitor of matrix metalloproteinase (TIMP-1) eukaryotic expressing plasmid into a rat liver fibrosis model may influence the progression of liver fibrosis.</p><p><b>METHODS</b>Fragments of TBRI cDNA and TIMP-1 cDNA were obtained by reverse transcription polymerase chain reaction (RT-PCR) and then amplified by nest PCR. pcDNA3.1(+)-antisense TBRI eukaryotic expressing plasmid was constructed by directional and inverted joins with the purified linear pcDNA3.1(+) and the purified fragment of TBRI, as well as, pcDNA3.1(+)-antisense TIMP-1 eukaryotic expressing plasmid. The recombinant was identified by restriction endonuclease digestion and DNA sequence analysis. The recombinant plasmids were encapsulated with Lipofectmine 2000, and then they were injected intraperitoneally into the liver fibrosis model rats. The protein expression of type I collagen was evaluated by immunohistochemistry. VG staining of liver slides of the rats was used for histopathological examination.</p><p><b>RESULTS</b>Compared with the empty plasmid control group and the disease control group, the deposition of type I collagen decreased in the three antisense treatment groups: antisense TBRI group (4.37+/-1.30) x 10(5), P less than 0.05; antisense TIMP-1 group (3.40+/-0.91) x 10(5), probability value less than 0.05; antisense TBRI + antisense TIMP-1 group (0.90+/-0.32) x 10(5), P less than 0.01; treatment control group (6.90+/-1.61) x 10(5); disease control group (7.34+/-1.68) x 10(5); and the normal control group (0.41+/-0.21) x 10(5)]. Significant differences in the pathological grades of fibrosis were found between the normal control group and the other five groups (P less than 0.05) and also between the disease control group and the three antisense treatment groups (antisense TBRI group P less than 0.05; antisense TIMP-1 group P less than 0.05; antisense TBRI + antisense TIMP-1 group P less than 0.01), but no difference was found between the empty plasmid control group and disease control group (P more than 0.05).</p><p><b>CONCLUSION</b>Both antisense TBRI eukaryotic expressing plasmid and antisense TIMP-1 eukaryotic expressing plasmid can inhibit the progress of liver fibrosis. A combined action can inhibit the progress of liver fibrosis more.</p>

Generative pathway and mechanism of local angiotensin Ⅱ generation in islets of Syrian golden hamsters / 解放军医学杂志

Objective To explore the changes in angiotensin Ⅱ(AngⅡ)produced by Langerhan islets of Syrian hamsters after blockage of renin-angiotensin system(RAS)by different inhibitors.Methods Islet cells from Syrian golden hamster were isolated and purified,and angiotensin Ⅰ was added.The experiment was then divided into six groups:control group(PBS was added),captopril group,chymostatin group,aprotinin group,?-antitrypsin group,and captopril+chymostatin group(according to inhibitors added).The content of AngⅡ in supernatant was detected by enzyme-linked immunosorbent assay(ELISA).Results Compared with control group,the AngⅡ content decreased by 42.50% and 50.94% in captopril group and chymostatin group,respectively(P

The study of relationship between the levels of plasma VEGF,PAI-1 and the severity of the diabetic retinopathy / 中国实用内科杂志

Objective To observe the relationship between the levels of plasma VEGF,PAI-1 and the severity of the diabetic retinopathy in type 2 diabetic patients.Methods ELISA method was used to measure the levels of VEGF and PAI-1.Results The level of VEGF was increased in all diabetic patients compared with the normal control group[(17.86?12.25)ng/L],and that of the patients with BDR[(93.41?54.69)ng/L]was higher than that of the patients with NDR[(52.17?21.81)ng/L]and PDR[(61.24?37.55)ng/L].The level of PAI-1 was also increased in all diabetic patients.The increase tendency was more obvious in patients with BDR[(58.29?20.53)?g/L]and PDR[(66.84?23.81)?g/L].Conclusion The damage of the vascular endothelial cell and the impaired fibrinolysis state exist in diabetic retinopathy.So it is very important to measure the levels of VEGF and PAI-1 for the early diagnosis and intervention treatment of diabetic retinopathy.