[Show abstract][Hide abstract] ABSTRACT: The diagnosis of malignant thyroid nodules is still a clinical challenge. This study aimed to determine the ultrasonographic characteristics of papillary thyroid carcinoma. The ultrasonographic and pathological data of 2453 thyroid nodules in a cohort of 1895 Chinese patients who underwent thyroidectomy from January 2010 to December 2012 were retrospectively reviewed. Anteroposterior and transversal (AP/TR) diameters ≥1, solid structure, infiltrative margins, hypoechoic appearance, and microcalcifications were more common in malignant nodules than in benign nodules (P < 0.01). These ultrasonographic features were independent risk factors of malignancy (P < 0.01) as determined by logistic regression analysis. Based on multivariate analysis, these characteristics were also present in large nodules (diameter >10 mm). However, in small nodules (diameter ≤10 mm), only AP/TR ≥1 and infiltrative margins were independent risk factors of malignancy (P < 0.01). Ultrasonography is of high diagnostic value for malignant thyroid nodules and may help to improve the differential diagnosis. Small and large nodules have distinct ultrasonographic features.
Medicine 05/2015; 94(21):e841. DOI:10.1097/MD.0000000000000841 · 5.72 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: To explore the imaging features of congenital adrenal cortex hyperplasia (CAH).
A total of 45 patients clinically confirmed as CAH were retrospectively analyzed to investigate the imaging features and strengthening way of the multi-detector-row Computed tomography.
The imaging features of all the cases presented as following: 25 with bilateral adrenal hyperplasia, 6 with unilateral adrenal hyperplasia, 6 with adrenal nodular hyperplasia, 2 with adrenal hyperplasia and unilateral solid cystic lesion, 2 with adrenal hyperplasia and double side real cystic lesion, 1 with adrenal hyperplasia and unilateral cystic changes and 3 with normal adrenal. The unilateral or bilateral hyperplasia adrenal could be homogeneously enhanced, while the enhanced performance of other cases was inequable.
The adrenal imaging features of CAH by multi-detector-row CT are variable, with the bilateral adrenal hyperplasia as the main form, which could be restored to normal morphology after hormone replacement therapy.No regression of the tumor size is observed in cases with adrenal mass. CT scanning combined with clinical manifestation and biochemical examination could facilitate the diagnosis of CAH.
Zhonghua nei ke za zhi [Chinese journal of internal medicine] 12/2013; 52(12):1041-4.
[Show abstract][Hide abstract] ABSTRACT: This study was conducted to evaluate gender-related differences in clinical characteristics and vascular complications in patients with aldosterone-producing adenomas (APA). Clinical characteristics, biochemical markers and incidence of vascular complications were compared by gender in 187 consecutive patients with APA confirmed by pathological diagnosis. Patients were separated into two groups based on ages either older or younger than 49 years, the average age of menopause among Chinese women (<49 y and ≥49 y). Males had significantly higher BMI than females in the age group of <49 years (p = 0.017). In the <49 years group, males had significantly higher serum sodium levels (p = 0.003). However, no such gender differences in clinical characteristics were observed in patients ≥49 years. A higher proportion of vascular complications was observed in males as compared to females aged <49 years but the difference was not statistically significant (51.4% vs. 34.8%, p = 0.105). The only gender difference observed in vascular complications between patients aged ≥49 years was that a significantly greater proportion of males had cerebrovascular complication compared to females (p = 0.006). Our data suggest that female sex hormones are implicated in reducing serum sodium concentration and vascular complications in female APA patients.
[Show abstract][Hide abstract] ABSTRACT: Objectives:
Pituitary stalk interruption syndrome (PSIS) is rare and its clinical features and pathogenesis are poorly understood. This study characterized the clinical and genetic features of PSIS in Chinese patients.
Design and patients:
Clinical data of 58 patients with PSIS and 46 patients with GH deficiency but a normal pituitary stalk (NPS) were retrospectively analysed. HESX1, LHX4, OTX2 and SOX3 polymorphisms were screened in 33 PSIS patients, and GH1 and GHRHR in 4 NPS patients.
Deficiency of GH was 100% in both PSIS and NPS groups. Other deficiency rates for PSIS and NPS groups were as follows: ACTH, 77·6% and 23·9%; TSH, 43·1% and 10·9%; LH/FSH, 94·2% and 47·4%; and combined pituitary hormone, 93·1% and 41·3% respectively. In PSIS and NPS patients, the percentages of anterior pituitary hypoplasia were 98·3% and 54·3%, pituitary stalk abnormality were 100% and 0%, and ectopic neurohypophysis were 91·4% and 0%. A novel heterozygous sequence variant (c.142A>T, p.T48S) was found in HESX1 in one PSIS patient, 3 polymorphisms (c.63T>C, p.G21G; c.450C>T, p.N150N; and c.983A>G, p.N328S) in LHX4 in 7, 1 and 31 PSIS patients, respectively, and a hemizygous polymorphism (c.157G>C, p.V53L) in SOX3 in one PSIS patient. No OTX2 abnormality was detected in PSIS patients, and no GH1 or GHRHR polymorphisms in NPS patients.
Compared with NPS, PSIS patients had more severe anterior pituitary hormone deficiency, lower anterior pituitary hormone secretion and higher probability of abnormal pituitary morphology. HESX1, LHX4 and SOX3 polymorphisms may be associated with PSIS.
[Show abstract][Hide abstract] ABSTRACT: Abstract Steroid 5α-reductase type 2 deficiency (5α-RD2) is a rare autosomal recessive inherited disorder caused by mutations in the SRD5A2 gene. Its clinical features and pathogenesis in Chinese patients are poorly understood. This study aimed to characterize the clinical features and genetically analyze the SRD5A2 gene in three Chinese 5α-RD2 patients. The patients were characterized by ambiguous genitalia and spontaneous virilization without breast development at puberty. Elevated post-human chorionic gonadotropin stimulation T/DHT ratios were useful indicators of 5α-RD2 (with ratios of 20.4, 20.1, and 26.6 in the three patients, respectively). Two compound heterozygous mutations in the SRD5A2 gene were identified: p.G203S/p.R246Q in patients 1 and 2 and p.G203S/c.655delT in patient 3. The father and the mother of patients 1 and\xa02 were carriers of p.R246Q and p.G203S, respectively. p.G203S appears to be common in Chinese 5α-RD2 patients. Early genetic analysis should be performed in suspected patients to improve prognosis.
[Show abstract][Hide abstract] ABSTRACT: Pancreatic β cells are susceptible to fatty acid-induced apoptosis. The 17β-estradiol (E2) protects pancreatic β cells from apoptosis, mediated by the estrogen receptor-α (ERα). The mRNA level and promoter activity of leukemia-related protein (LRP) 16 were significantly increased by E2 in ER-α and LRP16 was a co-activator of ER-α. The aim of the study was to assess the effects of LRP16 on fatty acid-induced apoptosis in MIN6 cells.
Cells with over-expressing LRP16 were obtained by lipidosome transfection. Insulin content and glucose-stimulated insulin secretion (GSIS) were examined by radioimmunoassay. Western blotting was applied to detect protein expression. Apoptosis was detected by terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) and flow cytometry. The forkhead boxO1 (FoxO1) subcellular localization was determined by immunocytochemical analysis.
MIN6-LRP16 cells with overexpression of LRP16 were successfully established, and protein expression of LRP16 was 2.29-fold of that of control cells (MIN6-3.1, P < 0.05). Insulin content and GSIS in MIN6-LRP16 were substantially increased compared with those in control cells. When cells were stimulated with glucose, increased phosphorylation of extracellular signal-regulated kinase (ERK) 1/2 and serine-threonine kinase (Akt) were observed in MIN6-LRP16. When cells were under palmitate pressure, the TUNEL-positive rate in MIN6-LRP16 was (17.0 ± 0.5)%, while it in MIN6-3.1 was (22.0 ± 0.4)%. In palmitate-treated cells, attenuated Akt phosphorylation was observed, but the attenuation in Akt activity was partially restored in MIN6-LRP16 cells. Meanwhile, nuclear localization of FoxO1 in MIN6-LRP16 was apparently reduced compared with that in control cells.
LRP16 regulated insulin content and GSIS in MIN6 cells by ERK1/2 and Akt activated way. Meanwhile, LRP16 overexpression protected MIN6 cells from fatty acid-induced apoptosis by partially restoring Akt phosphorylation and inhibiting FoxO1 nuclear redistribution. Therefore, LRP16 played important roles not only in insulin content and GSIS but also in the antilipotoxic effect mediated by Akt/FoxO1 signaling.
Chinese medical journal 05/2012; 125(10):1695-702. DOI:10.3760/cma.j.issn.0366-6999.2012.10.004 · 1.05 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Recurrent autoimmune hypophysitis is a rare autoimmune endocrine disease involving lymphocytic infiltration and chronic pituitary inflammation. It is even more rare than primary hypophysitis. The objective of the study was to evaluate the efficacy of glucocorticoid treatment combined with azathioprine for treating three cases of recurrent autoimmune lymphocytic hypophysitis encountered within a two-year period. The clinical features and follow-up data of these cases were analyzed, including results of treatment with glucocorticoids combined with azathioprine. All three patients were female and presented with the following clinical characteristics: case 1 was a 22-year-old with headache and diplopia; case 2 was a 70-year-old with dry mouth, polydipsia, and polyuria; case 3, a 32-year-old, with polydipsia, polyuria and menstrual disorders with headache and dizziness. Regarding recurrence, case 1 recurred 4 months after surgery and again 14 months after discontinuing prednisone; case 2 relapsed 16 months after receiving high-dose methylprednisolone pulse therapy; and case 3 recurred during the period of prednisone dose reduction. The patients were treated with glucocorticoids plus azathioprine, and positive responses were seen in all three cases. Symptoms were relieved, and MRI revealed significant reduction of lesions during follow-up. Pituitary function resumed in cases 1 and 3; permanent hypopituitarism was present in case 2. At last follow-up, MRI showed no further recurrence of disease in any patient. Treatment and responses of these patients with autoimmune hypophysitis suggest that glucocorticoid therapy combined with azothioprine is effective treatment for recurrent autoimmune hypophysitis. Endocrine and radiologic studies are an essential part of follow-up.
[Show abstract][Hide abstract] ABSTRACT: To study the cerebrospinal fluid (CSF) and serum level of human chorionic gonadotropin (HCG) in patients with intracranial germinoma and to evaluate its diagnostic and therapeutic value.
Thirty-one patients with intracranial germinoma receiving estimation of HCG in CSF and serum in our hospital were retrospectively analyzed in terms of HCG level, its influencing factors and the relationship of HCG with clinical features.
HCG levels in CSF of the 31 cases ranged from 0.17 IU/L to 5316.98 IU/L with a median value of 3.44 IU/L. The sensitivity of diagnosis increased from 80.6% to 90.3%, when the cut point of HCG in CSF changed from 0.60 IU/L to 0.50 IU/L. The sensitivity increased from 83.9% to 93.5% when the cut point of the ratio of CSF/serum HCG decreased from 1.8 to 1.7. HCG level of germinoma located in pineal region was higher than that in basal ganglia region, while it is lowest in sellar region. The ratio of CSF/serum HCG in different parts showed no difference. Multiple risk factors analysis revealed that serum HCG (r = 0.886, P = 0.0001) and tumor size (r = 0.748, P = 0.0211) were positively correlated with the HCG level in CSF, while course of the disease, age and gender were not correlated. After radiation therapy, HCG in CSF and serum decreased dramatically as compared with those before radiation.
The HCG level and its dynamic change were sensitive marker of intracranial germinomas. Based on our analysis, HCG in CSF over 0.50 IU/L and the its ratio in CSF/serum over 1.7 were highly indicative of the possibility of intracranial germinomas.
Zhonghua nei ke za zhi [Chinese journal of internal medicine] 10/2010; 49(10):851-4.
[Show abstract][Hide abstract] ABSTRACT: To investigate the clinical characteristics of multiple endocrine neoplasia type 1 (MEN1) patients presenting with hypoglycemic coma as chief manifestation and the related clinical experience in diagnosis and therapy.
We analyzed the clinical data of 4 patients who were hospitalized because of recurrent hypoglycemic coma and diagnosed as having MEN1 by endocrinological, radiological and pathological examinations.
In the 4 cases of Whipple trilogy, radiological examination showed occupying lesion in the pancreas and pathological examination confirmed the diagnosis of insulinoma. In 2 cases the insulinomas were multiple. In this series, one case was complicated with pituitary adenoma, parathyroidoma (recurrent after operation) and adrenocortical adenoma, one case with pituitary adenoma, parathyroidoma (2 tumors) and adrenal nodular hyperplasia, one case with pituitary adenoma and parathyroidoma, and the remaining one with pituitary adenoma and suspectible parathyroidoma.
For patients with insulinoma, MEN1 should be considered. In patients with MEN1, the presence of multiple or ectopic parathyroid adenomas (or hyperplasia) and insulinomas should be inspected during operation. After operation, examinations should be regularly performed to identify whether the diseases relapse or new endocrine neoplasias occur.
Zhonghua nei ke za zhi [Chinese journal of internal medicine] 02/2009; 48(1):13-6.
[Show abstract][Hide abstract] ABSTRACT: To prospectively evaluate the current situation of blood pressure control in the type 2 diabetics in some regions of China.
Totally 5063 consecutive patients with hypertension were investigated. Among them 1993 with diabetes underwent baseline survey. Individualized target blood pressures were set by physicians. Four follow-up visits, in weeks 2, 4, 8, and 12 were performed to monitor the achievements of these targets and the reasons for not modifying antihypertensive treatments were analyzed when the blood pressure goals were not reached.
The prevalence of diabetes among the hypertensive patients was 39.2%. The target blood pressure values defined by the physicians at baseline survey varied with the grade and degree of hypertension. 31.4% of the patients reached the target blood pressure goals (BP < 130/80 mm Hg) at week 12. The reasons for not intensifying antihypertensive treatment when the blood pressure targets were not achieved were manifold. The main reasons were as follows: the physicians considered that the BP value was close to the target, longer treatment and waiting for full drug effect were needed, etc. On average, 2 different antihypertensive agents were used to achieve BP target and some patients used 4-5 different drugs. The most frequent agents used were angiotensin II receptor antagonist and calcium channel blockers. The use of thiazide-type diuretics increased from the first visit to the last visit (weeks 12).
The co-prevalence of hypertension and diabetes in China is high and the target blood pressure set by physician is almost 130/80 mm Hg as defined in guidelines. Only about 31.4% of patients have reached their goals 12 weeks after treatment. There are many subjective and objective reasons responsible for not intensifying antihypertensive treatment when the blood pressure targets are not achieved. Hypertension in diabetes is poorly controlled compared with that in the whole population.
[Show abstract][Hide abstract] ABSTRACT: DNA sequencing analysis was used to scan the genes in a Chinese family with clinically diagnosed autosomal genetic hypercholesterolemia. Two mutations were identified in exon 4 of the low-density lipoprotein receptor gene, which is the possible molecular mechanism of etiology of the family. The proband's extremely high level of serum cholesterol and the related manifestations suggested that he was a familial hypercholesterolemia homozygote and that his parents were in a relatively milder condition. DNA sequencing revealed that the proband had an abnormal pattern of exon 4 of the low-density lipoprotein receptor gene due to a heterozygosity (A/G) at nucleotide 386 and a heterozygous single-base deletion (A) at 685. Nucleotide 386 is the second base of codon 129, and A-->G mutation (D129G) changed this codon from Asp(GAC) to Gly(GGC). The single-base deletion of A at 685 (685del 1) is a frameshift mutation. It changes the phase of triplets, so that all codons are misread after this site of mutation; consequently, the protein expressed by the gene must be abnormal in structure and function. DNA analysis of the other family members showed that the 2 mutations should be respectively located in different alleles of the proband. Both of the 2 mutations have not been reported previously.
[Show abstract][Hide abstract] ABSTRACT: To study the effects of methylcobalamin and folic acid treatment on plasma homocysteine (Hcy) level and homocysteine thiolactonase/paraoxonase (HTase/PON) activity in patients with type 2 diabetes mellitus.
120 patients with type 2 diabetes mellitus were randomly divided into four equal groups: Group I, receiving no intervention therapy as control group, Group II, given folic acid orally (5 mg/d), Group III, receiving intramuscular injection of methylcobalamin (500 microg qd), and Group IV, treated with methylcobalamin (500 microg qd) in addition to folic acid (5 mg/d). Forty healthy age-matched persons were used as normal controls. Before and 12 weeks after 2-week treatment, plasma total Hcy, vitamin B(12), folic acid, and HTase/PON activity were assayed.
After 12-week treatment the plasma folic acid and methylcobalamin, and Hcy levels decreased and serum HTase/PON activity increased significantly in the three groups receiving intervention treatment (all P < 0.05). The Hcy level decreased by 2.8% in Group I, 14.0% in Group II, 37.3% in Group III, and 21.7% in Group IV respectively (all P < 0.01). The HTase/PON activity increased by 2.7% in Group I, 8.0% in Group II, 3.4% in Group III, and 17.6% in Group IV respectively (all P < 0.05).
Methylcobalamin and folic acid treatment alone can decrease the Hcy level and increase the HTase/PON activity in the patients with type 2 diabetes mellitus, and the methylcobalamin and folic acid combination therapy is much more effective. Folic acid may affect the HTase/PON activity through its antioxidant ability.
[Show abstract][Hide abstract] ABSTRACT: To investigate the molecular diagnosis method and possible molecular mechanism of the etiology of a hereditary genetic hypercholesterolemia family by scanning and analyzing the related genes of hereditary hypercholesterolemia in a clinically diagnosed proband and his family members.
Molecular diagnosis was performed with PCR and then DNA sequencing of the promoter and 18 exons of low-density lipoprotein receptor (LDLR) gene and 3500 - 3531 fragment of apolipoprotein B-100 gene was carried out. The sequencing results were compared with the normal nucleotide sequence queried from the GeneBank database to discover the mutations.
Familial defective apolipoprotein B-100 was excluded, as no mutation was detected in the apolipoprotein B 3500 - 3531 fragment. Two new point mutations were detected in the exon 4 of the proband's LDLR gene, they were heterozygous 685delA (Del A at 685) and 386A > G. The sequencing in his parents and other family members showed that the two mutations were paternal origin (685delA) and maternal origin (386A > G) respectively and should be located in different alleles of the proband.
Molecular diagnosis in the family shows that the proband is a compound heterozygote and the newly detected LDLR gene mutations of 685delA and 386A > G are the possible molecular etiological basis of the disease in this family.
Zhonghua nei ke za zhi [Chinese journal of internal medicine] 10/2006; 45(9):725-9.
[Show abstract][Hide abstract] ABSTRACT: To study the expression of matrix metalloproteinase-9 (MMP-9) in diabetic nephropathy of Kkay mice with hyperhomocysteinemia.
Sixteen Kkay mice were divided into two groups with 8 in each:diabetes group (KA) and methionine-diet group (KB). C57BL/6 mice were used as normal control (C57). Four months after being treated with two different diets, the mice were sacrificed and serum homocysteine (Hcy) was assayed with fluorescence polarization immunoassay. Renal pathological change was examined with periodic acid Schiff (PAS). The expression of MMP-9 protein and mRNA was detected with immunohistochemical staining and reverse transcriptase-PCR respectively.
It was shown that induction of hyperhomocysteinemia in Kkay mice (KB) with a diet enriched in methionine aggravated diabetic nephropathy as compared with the KA group (P < 0.05). The expression of MMP-9 protein and mRNA in KB group was also enhanced and the mean positive area of MMP-9 in KB group was higher than that in KA group (15.90% vs 11.14%, P < 0.05).
The increased level of Hcy could worsen the nephropathy; this may be related to a higher expression of MMP-9.
Zhonghua nei ke za zhi [Chinese journal of internal medicine] 08/2004; 43(8):604-7.
[Show abstract][Hide abstract] ABSTRACT: To study the genes differentially expressed in the liver of Kkay diabetic and normal mice by genomic-scale gene expression analysis.
cDNA microarray chips containing 8,192 cDNAs were used to explore the gene expression pattern of Kkay mouse liver.
One hundred and fifty-four genes were screened out, including 68 complete cDNAs and expressed sequence tags, and among them 40 genes were up-regulated and 114 genes were down-regulated respectively.
Most of the gene expression analysis results were consistent with previous study, and the gene expression pattern of Kkay mouse based on cDNA microarray could be used for high-throughout screening out the genes associated with type 2 diabetes.
Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae 11/2002; 24(5):462-5.