Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in .

Objective: Wolfram syndrome (WS) is a rare, degenerative, and hereditary disorder characterized by ear diabetes mellitus (DM) and optic atrophy (OA). We aim to characterize clinical features in Chinese patients who had been poorly studied until now.

Methods: We performed a retrospective review of patients with WS seen in the Peking Union Medical College Hospital from 2002 to 2017.

Value of Chloride Clearance Test in Differential Diagnosis of Gitelman Syndrome.

Objective To investigate the value of chloride clearance test in differential diagnosis of Gitelman syndrome (GS). Methods For patients with hypokalemic metabolic alkalosis and highly suspected GS,clinical data were documented and SLC12A3 gene screening was performed as gold standard to diagnose GS. Hydrochlorothiazide (HCT) test and furosemide (FUR) test were performed according to the standard process.

Interaction between Angiotensin II and Insulin/IGF-1 Exerted a Synergistic Stimulatory Effect on ERK1/2 Activation in Adrenocortical Carcinoma H295R Cells.

The cross talk between angiotensin II (Ang II) and insulin has been described mainly in cardiovascular cells, hepatocytes, adipocytes, and so forth, and to date no such cross talk was reported in adrenal. In this study, we examined the interaction between Ang II and insulin/IGF-1 in ERK and AKT signaling pathways and expression of steroidogenic enzymes in H295R cells. Compared to the control, 100 nM Ang II increased phospho-ERK1/2 approximately 3-fold.

Analysis of association among clinical features and shorter leukocyte telomere length in mitochondrial diabetes with m.3243A>G mitochondrial DNA mutation.

Background: Mitochondrial diabetes is a kind of rare diabetes caused by monogenic mutation in mitochondria. The study aimed to summarize the clinical phenotype profiles in mitochondrial diabetes with m.3243 A>G mitochondrial DNA mutation and to investigate the mechanism in this kind of diabetes by analyzing the relationship among clinical phenotypes and peripheral leukocyte DNA telomere length.

[Clinical manifestations, therapeutic response to tyrosinase inhibitor and RET gene activating mutation in a patient with multiple endocrine neoplasia 2B].

Objective: To explore the clinical manifestations, therapeutic response and RET gene mutation in a patient with multiple endocrine neoplasia 2B (MEN2B) characterized by medullary thyroid carcinoma (MTC), bilateral adrenal pheochromocytoma and multiple mucosal neuromas.

Methods: The clinical features, laboratory data and radiological manifestations of this patient were collected. Genomic DNA was extracted from her peripheral blood leukocytes and her parents.

[Differences of blood plasma renin activity, angiotensin II and aldosterone levels in essential or secondary hypertension].

Objective: To study on the difference of plasma renin activity (PRA), angiotensin II (Ang II), and aldosterone levels in patients with essential hypertension (EH) or primary aldosteronism (PA) or pheochromocytoma (PHEO), and to analyze the sensitivity and specificity on the diagnosis of PA among patients with hypertension with aldosterone/PRA ratio (ARR).

Methods: The plasma aldosterone, Ang II and PRA concentrations in supine and upright positions were measured by radioimmunoassay from 413 patients including idiopathic hyperaldosteronism (IHA, n = 111), aldosterone-producing adenoma (APA, n = 118), PHEO (n = 98) and EH (n = 86). ARR was calculated.

[An analysis of hyperinsulinemia in Bartter syndrome].

Objective: To analyse hyperinsulinemia in Bartter syndrome.

Methods: Twenty-three cases of Bartter syndrome [age (27 ± 9) years; fasting serum potassium (2.8 ± 0.

Growth and development of adolescent patients with Cushing's syndrome.

Objective: To elucidate the growth and development of patients with Cushing's syndrome (CS) in adolescence.

Methods: We analyzed the clinical data of 19 patients aged under 18 with CS. We divided the patients into two groups according to the height at diagnosis.

[Adrenal lesions in patients of multiple endocrine neoplasia type 1].

Objective: To investigate the prevalence and characteristics of adrenal lesions in Chinese multiple endocrine neoplasia type 1 (MEN-1) patients.

Methods: Adrenal CT scan and clinical manifestations were retrospectively reviewed in 32 consecutive MEN-1 patients who were evaluated at our hospital during January 1986 to December 2009.

Results: Adrenal lesions were identified in 16 of 32 (50%) MEN-1 patients.

[Relationship between plasma level of leptin and the expression of leptin receptor in human adrenal tissues and tumors].

Objective: To compare the mRNA, protein expression of long leptin receptor (Ob-Rb) in human adrenal tissues and tumors and observe the plasma level of leptin in primary aldosteronism (PA), cortisol-secreting tumors (CS) and pheochromocytomas (PHEO).

Methods: Total RNA and protein were extracted from 6 normal human adrenal glands, 10 CS, 20 PHEO; and 14 aldosterone-producing adenomas (APA) (RNA), 10 APA (protein); plasma samples were drawn from 20 controls, 15 PHEO, 29 PA and 11 CS.

Results: The mRNA and protein of Ob-Rb were widely expressed in human adrenal glands and tumors.

Bilateral pheochromocytoma as first presentation of von Hippel-Lindau disease in a Chinese family.

Objective: To investigate the clinical and genetic features of a Chinese family with von Hippel-Lindau (VHL) disease revealed by bilateral pheochromocytoma.

Methods: The proband and other members in a Chinese family with familial pheochromocytoma were clinically evaluated and followed up. Genomic DNA extracted from the peripheral blood of 8 family members (including 3 patients) was amplified by polymerase chain reaction (PCR) and the PCR products were directly sequenced.

Heteroplasmy level of the mitochondrial tRNaLeu(UUR) A3243G mutation in a Chinese family is positively associated with earlier age-of-onset and increasing severity of diabetes.

Objective: To investigate the mutations of mitochondrial genome in a pedigree with suspected maternally inherited diabetes and deafness and to explore the correlations between the mutations and clinical features.

Methods: Genomic DNA was isolated from blood leucocytes of each member of the pedigree. The mitochondrial genome was amplified with 24-pair primers that could cover the entire mitochondrial DNA.

[Expression of renin-angiotensin-aldosterone system in human adipose tissues].

Objective: To compare the mRNA expression of renin-angiotensin-aldosterone system in human subcutaneous and visceral adipose tissues.

Methods: Total RNA was extracted from 12 human subcutaneous adipose tissues, 12 perirenal adipose tissue and 9 periadrenal adipose tissues. The expressions of angiotensinogen ( AGT) , renin, angiotensin converting enzyme ( ACE) , angiotensin converting enzyme 2 (ACE2), angiotensin I1 receptor type 1 (AT1), angiotensin II receptor type 2 (AT2 ), CYP11 B2, and their internal reference glyceraldehyde phosphate (GAPDH) were studied by reverse transcription-polymerase chain reaction.

[Effect of hypokalemia on glucose metabolism in primary hyperaldosteronism].

Objective: To investigate the effect of potassium deficiency on glucose and insulin metabolism in primary hyperaldosteronism, including aldosterone-producing adenoma (APA) and idiopathic hyperaldosteronism (IHA).

Methods: Totally 178 patients who were diagnosed as primary hyperaldosteronism (103 patients with APA and 75 with IHA) were divided into hypokalemia group and normal potassium group according to their serum potassium levels. All patients received 3 hours of oral glucose tolerance test and aldosterone test to observe the relationship among glucose, insulin and serum potassium.

The effects of urotensin-II on proliferation of pheochromocytoma cells and mRNA expression of urotensin-II and its receptor in pheochromocytoma tissues.

This study was conducted to investigate the effects of urotensin-II (UII) on the proliferation of pheochromocytoma cells and the mRNA expression of UII and its receptor G protein-coupled receptor 14 (GPR14) in normal adrenal and human pheochromocytoma tissues. The effects on the cell proliferation by different UII concentrations and at different time were observed with the MTT method in both rat pheochromocytoma cell line (PC12 cell) and human pheochromocytoma cells. The mRNA expression of UII and GPR14 was evaluated by RT-PCR.

Expression and effect of transforming growth factor-alpha and tumor necrosis factor-alpha in human pheochromocytoma.

This study observed the expression of transforming growth factor-alpha (TGF-alpha) and tumor necrosis factor-alpha (TNF-alpha) in pheochromocytoma (PHEO) tissue and examined their effects on the proliferation and apoptosis of human PHEO cells. The mRNA and protein expressions of TGF-alpha and TNF-alpha were higher in PHEO tissues than in normal adrenal medullary tissues, and their expressions varied with pathological features. TGF-alpha and TNF-alpha stimulated the proliferation of primary human PHEO cells, but had no effect on the cell apoptosis.

von Hippel-Lindau gene mutation in non-syndromic familial pheochromocytomas.

Approximately 50% of patients with non-syndromic familial pheochromocytomas had germline von Hippel-Lindau (VHL) gene mutations, but no reports on the subject were available in China. A total of five unrelated Chinese families with non-syndromic familial pheochromocytomas were screened for VHL gene mutation by polymerase chain reaction (PCR) and subsequent direct sequencing. Missense germline mutations of VHL gene were detected in four of the five families.

[Expression of adrenomedullin and its receptor mRNA in the tissues of normal adrenal medulla and pheochromocytoma].

Objective: To investigate the expression of human adrenomedullin (ADM) and its receptor-receptor activity modifying protein 2/calcitonin receptor-like receptor (RAMP2/CRLR) mRNA in the tissues of normal adrenal medulla and pheochromocytoma.

Methods: Total RNA was extracted from normal adrenal medulla and pheochromocytomas. The expression of ADM and RAMP2/CRLR mRNA were studied by reverse transcription-polymerase chain reaction.

[Expression of transforming growth factor alpha, tumor necrosis factor alpha, and vascular endothelial growth factor of human pheochromocytoma tissues].

Objective: To compare the expressions of transforming growth factor alpha (TGFalpha), tumor necrosis factor alpha (TNFalpha), and vascular endothelial growth factor (VEGF) between pheochromocytoma (PHEO) tissues and normal adrenal medulla tissues.

Methods: The mRNA expressions of TGFalpha, TNFalpha, and VEGF detected by RT-PCR, were compared between 22 PHEO tissues and 18 normal adrenal medulla tissues (according with the principle of medical ethnics). Immunohistochemistry staining was performed on 27 PHEO tissues and 14 normal adrenal medulla tissues.

[Expression of urotensin II mRNA in normal adrenal medulla and pheochromocytoma tissues].

Objective: To investigate the expression of human urotensin II (UII) mRNA in normal adrenal medulla and pheochromocytoma tissues.

Methods: The total RNA of normal adrenal medulla from 9 males who died of accidents and the total RNA of pheochromocytoma tissues resected from 19 patients were extracted. The expression of UII mRNA was studied by reverse transcription-polymerase chain reaction (RT-PCR).