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1.
Neuro Endocrinol Lett ; 43(4): 233-238, 2022 Nov 30.
Article in English | MEDLINE | ID: mdl-36528886

ABSTRACT

OBJECTIVE: Parathyroid carcinoma (PC) is a rare disease with high rates of misdiagnosis and recurrence. This report summarized the clinical and pathological characteristics of 10 patients with PC at our hospital, to improve the early recognition and prognosis of PC. METHODS: The clinical manifestations, imaging findings, pathological features, treatments, and prognostic data of 10 patients diagnosed with PC at the First Medical Center, Chinese PLA General Hospital from 2003 to 2021 were analyzed. RESULTS: There were 7 male and 3 female patients with PC whose average age was 41.4 ± 9.4 years. All patients had bone involvement (bone pain and/or osteoporosis), meanwhile 6 patients had kidney stones and 7 patients had palpable neck masses. Five patients presented with tumor metastasis, invading lymph nodes, lung, liver, or bone. Laboratory examinations revealed elevated serum total calcium (4.15 ± 0.81 mmol/L), parathyroid hormone (PTH, 1236.1 ± 519.9 pg/mL) and alkaline phosphatase (405.8 ± 219.0 IU/L) levels. Especially, hypercalcemic crisis occurred in 9 patients. The diagnosis of PC depended on histopathological features of the parathyroid tumor, including capsular and/or vascular invasion. All patients underwent at least en bloc resection. In the follow-up, six patients with relatively high preoperative PTH levels (1519.5 ± 436.8 pg/mL) relapsed postoperatively. Two patients with the Ki-67 index ≥ 10% in parathyroid tumor tissue and distant metastasis died within 2 years after the operation. CONCLUSION: Severe bone pain, kidney stones, hypercalcemic crisis, and markedly elevated PTH usually indicate PC. A markedly elevated PTH level, tumor metastasis, and the Ki-67 index ≥ 10% may be indicators of poor prognosis.


Subject(s)
Kidney Calculi , Parathyroid Neoplasms , Humans , Male , Female , Adult , Middle Aged , Parathyroid Neoplasms/complications , Parathyroid Neoplasms/diagnosis , Parathyroid Neoplasms/surgery , Ki-67 Antigen , Prognosis , Pain
2.
Neuro Endocrinol Lett ; 43(2): 113-118, 2022 Jun 07.
Article in English | MEDLINE | ID: mdl-35933617

ABSTRACT

OBJECTIVE: Patients with hypoparathyroidism always present with recurrent tetany caused by hypocalcemia. These patients are usually misdiagnosed with epilepsy and incorrectly treated with anti-epileptic drugs. This research analyzed clinical data about 22 patients with hypoparathyroidism misdiagnosed as epilepsy and summarized the clinical experience for reducing misdiagnosis and incorrect therapy about hypoparathyroidism. METHOD: Totally 160 patients with hypoparathyroidism, administrated to the First Medical Center of Chinese PLA General Hospital from January 1st, 2008, to July 1st, 2021, were enrolled in this report. Clinical data about 22 patients initially misdiagnosed with epilepsy were analyzed. RESULTS: Of the 160 cases with hypoparathyroidism, 22 patients (12 males and 10 females) were misdiagnosed with epilepsy in local hospitals. The misdiagnosis rate was 13.75% and the median duration of misdiagnosis was 8.0 (2.0, 14.8) years. The clinical manifestations of the 22 patients misdiagnosed as epilepsy included tetany 81.8% (18/22), disturbance of consciousness 27.3% (6/22), limb numbness 13.6% (3/22), limb weakness 27.3% (6/22), mental and behavioral abnormality 9.1% (2/22), and memory impairment 13.6% (3/22), etc. Electroencephalogram (EEG) was performed in 9 cases, which presented as slow wave and spike-slow complex wave in 3 cases, slowing down of Î¸ and δ band background in 2 cases and normal EEG in 4 cases. Out of the 15 cases that underwent head computed tomography (CT) scan, in which 13 cases had intracranial calcification. Anti-epileptic drugs were used to treat 22 patients, of which 17 patients were treated with two kinds of drugs. With calcium and calcitriol supplement in all these 22 patients, the anti-epileptic drugs were gradually reduced and withdrawn in 17 cases. In the other 5 cases with secondary epilepsy, the type of anti-epileptic drugs was reduced to one and the clinical condition improved obviously. CONCLUSION: The clinical manifestations of hypoparathyroidism are complex and usually be misdiagnosed as primary epilepsy. Detection of serum calcium, phosphorus and parathyroid hormone is very important to avoid misdiagnosis and incorrect therapy about hypoparathyroidism.


Subject(s)
Epilepsy , Hypoparathyroidism , Tetany , Calcitriol , Calcium , Data Analysis , Diagnostic Errors , Epilepsy/complications , Epilepsy/diagnosis , Epilepsy/drug therapy , Female , Humans , Hypoparathyroidism/diagnosis , Hypoparathyroidism/drug therapy , Male , Parathyroid Hormone , Phosphorus , Polyesters , Tetany/chemically induced , Tetany/complications , Tetany/drug therapy
3.
World J Clin Cases ; 9(14): 3478-3486, 2021 May 16.
Article in English | MEDLINE | ID: mdl-34002161

ABSTRACT

BACKGROUND: Paget's disease of bone (PDB) is a rare metabolic bone disease in China and is characterized by increased bone resorption and disorganized bone formation. The main clinical symptoms of PDB are focal or multiple bone pain and deformity with high disability. The disease has high missed diagnosis and misdiagnosis rates. This report summarizes the clinical manifestations, imaging and pathological features, and treatments of 11 patients with PDB at our hospital from 1993 to 2020 in order to improve the recognition and prognosis of PDB. CASE SUMMARY: There were eight male and three female patients whose average age was 48.7 ± 11.0 years with a PDB course of 1-16 years. Nine patients had bone pain and bone deformities in different parts of the body, the majority of which involved the long bones. Laboratory examinations revealed elevated serum alkaline phosphatase (ALP) in all patients with an average of 618 ± 460 IU/L (normal range 0-130 IU/L), and serum calcium and phosphorus levels were in the normal range. Imageology showed that osteolysis was usually combined with osteosclerosis and/or bone deformities in single or multiple bones. 99mTc-methylene diphosphonate bone scintigraphy revealed increased radionuclide uptake in the bone lesions. Six patients underwent bone tissue biopsy, and the typical pathological changes were a mosaic structure of the bone trabeculae with irregularly arranged cement lines and multinuclear osteoclasts. Ten of the 11 patients were effectively treated with bisphosphonates. CONCLUSION: Early diagnosis of the rare disease PDB can be made through elevated ALP levels and typical presentations on bone X-ray and from bone tissue biopsy.

4.
Neuro Endocrinol Lett ; 42(1): 43-47, 2021 Mar.
Article in English | MEDLINE | ID: mdl-34009764

ABSTRACT

OBJECTIVE: Insulinoma is a rare pancreatic neuroendocrine tumor that can spontaneously produce excess endogenous insulin, resulting in recurrent and serious hypoglycemia. Patients with insulinoma always have intermittent neuroglycopenia, which has been frequently reported as being misdiagnosed as epilepsy. In this report, we analyzed the clinical data of patients with confirmed insulinoma who had ever been misdiagnosed to have epilepsy. METHODS: The retrospective review was performed on 266 patients with confirmed insulinoma at the First Medical Center of Chinese PLA General Hospital between January 2000 and July 2020. RESULTS: 1. The diagnosis of insulinoma was confirmed in 266 patients. Forty-four patients [male/female=1/1.8, aged (41.25±12.30) years old] were misdiagnosed to have epilepsy, with a misdiagnosis rate of 16.5%. 2. Thirty-eight patients presented with consciousness disorder. Eleven patients presented with palpitation, sweating, and anxiety. Five patients presented with convulsion and 6 patients presented with abnormal behavior and delirium. 3. Twenty-two patients underwent EEG examination. EEG showed spike wave or spike-slow complex wave in 5 patients, decreased α wave and increased slow wave in θ and δ band in 7 patients, and was normal in 10 patients. 4. Thirty-five patients were incorrectly prescribed with AEDs and 22 patients were even misdiagnosed to have refractory epilepsy. 5. All these 44 patients underwent successful surgery, and hypoglycemia symptoms were relieved after insulinoma resection. CONCLUSION: Patients with insulinoma sometimes share common clinical characteristics with epilepsy. To patients with epilepsy or suspected epilepsy, especially with poor response to ADEs, hypoglycemia caused by insulinoma should be emphasized in the differential diagnosis.


Subject(s)
Epilepsy , Insulinoma , Pancreatic Neoplasms , Adult , China , Diagnostic Errors , Epilepsy/diagnosis , Female , Humans , Male , Middle Aged , Neoplasm Recurrence, Local , Pancreatic Neoplasms/diagnosis , Retrospective Studies
5.
World J Clin Cases ; 7(8): 961-971, 2019 Apr 26.
Article in English | MEDLINE | ID: mdl-31119141

ABSTRACT

BACKGROUND: Adrenocorticotropic hormone (ACTH)-independent Cushing's syndrome (CS) is mostly due to unilateral tumors, with bilateral tumors rarely reported. Its common causes include primary pigmented nodular adrenocortical disease, ACTH-independent macronodular adrenal hyperplasia, and bilateral adrenocortical adenomas (BAAs) or carcinomas. BAAs causing ACTH-independent CS are rare; up to now, fewer than 40 BAA cases have been reported. The accurate diagnosis and evaluation of BAAs are critical for determining optimal treatment options. Adrenal vein sampling (AVS) is a good way to diagnose ACTH-independent CS. CASE SUMMARY: A 31-year-old woman had a typical appearance of CS. The oral glucose tolerance test showed impaired glucose tolerance and obviously increased insulin and C-peptide levels. Her baseline serum cortisol and urine free cortisol were elevated and did not show either a circadian rhythm or suppression with dexamethasone administration. The peripheral 1-deamino-8-D-arginine-vasopressin (DDVAP) stimulation test showed a delay of the peak level, which was 1.05 times as high as the baseline level. Bilateral AVS results suggested the possibility of BAAs. Abdominal computed tomography showed bilateral adrenal adenomas with atrophic adrenal glands (right: 3.1 cm × 2.0 cm × 1.9 cm; left: 2.2 cm × 1.9 cm × 2.1 cm). Magnetic resonance imaging of the pituitary gland demonstrated normal findings. A left adenomectomy by retroperitoneoscopy was performed first, followed by resection of the right-side adrenal mass 3 mo later. Biopsy results of both adenomas showed cortical tumors. Evaluations of ACTH and cortisol showed a significant decrease after left adenomectomy but could still not be suppressed, and the circadian rhythm was absent. Following bilateral adenomectomy, this patient has been administered with prednisone until now, all of her symptoms were alleviated, and she had normal blood pressure without edema in either of her lower extremities. CONCLUSION: BAAs causing ACTH-independent CS are rare. AVS is of great significance for obtaining information on the functional state of BAAs before surgery.

6.
World J Gastroenterol ; 24(46): 5189-5202, 2018 Dec 14.
Article in English | MEDLINE | ID: mdl-30581268

ABSTRACT

Tyrosine kinase inhibitors (TKIs) have improved the overall survival of patients with gastrointestinal stromal tumors (GISTs), but their side effects can impact dose intensity and, consequently, the clinical benefit. To date, no guideline or consensus has been published on the TKI-associated adverse reactions. Therefore, the Chinese Society of Surgeons for Gastrointestinal Stromal Tumor of the Chinese Medical Doctor Association organized an expert panel discussion involving representatives from gastrointestinal surgery, medical oncology, cardiology, dermatology, nephrology, endocrinology, and ophthalmology to consider the systemic clinical symptoms, molecular and cellular mechanisms, and treatment recommendations of GISTs. Here, we present the resultant evidence- and experience-based consensus to guide the management of TKI-associated side events in clinical practice.


Subject(s)
Antineoplastic Agents/adverse effects , Drug-Related Side Effects and Adverse Reactions/therapy , Gastrointestinal Stromal Tumors/drug therapy , Protein Kinase Inhibitors/adverse effects , Protein-Tyrosine Kinases/antagonists & inhibitors , China , Consensus , Drug-Related Side Effects and Adverse Reactions/etiology , Humans , Physicians/standards , Societies, Medical/standards
7.
Medicine (Baltimore) ; 97(2): e9084, 2018 Jan.
Article in English | MEDLINE | ID: mdl-29480822

ABSTRACT

Pituitary stalk interruption syndrome (PSIS) is associated with simultaneous or subsequent pituitary hormone deficiencies (PHDs). Although the clinical features of multiple PHDs are well known, the status of the thyrotrophic axis in PSIS has not been thoroughly investigated.The clinical data of 89 PSIS patients and 34 Sheehan syndrome (SS) patients were retrospectively analyzed.The prevalence of central hypothyroidism in the PSIS patients and the SS patients was 79.8% and 70.6%, respectively. The thyroid-stimulating hormone (TSH) levels in the PSIS patients were significantly higher in comparison with the SS patients (5.13 ±â€Š3.40 vs 1.67 ±â€Š1.20 mU/L, P < .05). TSH elevation (8.79 ±â€Š3.17 mU/L) was noticed in 29 of 71 (40.85%) hypothyroid PSIS patients but not in the 24 hypothyroid SS patients. The TSH levels in the hypothyroid PSIS patients were significantly higher in comparison with the euthyroid PSIS patients (5.42 ±â€Š3.67 vs 3.66 ±â€Š1.50 mU/L). Thyroid hormone replacement significantly reduced the TSH levels in the PSIS patients with elevated TSH levels from 7.24 ±â€Š0.98 to 1.67 ±â€Š1.51 mU/L (P < .05). The logistic regression analysis suggested that TSH level was not significantly associated with pituitary stalk status and height of the anterior pituitary gland.PSIS is a newly recognized cause of central hypothyroidism. The proportion and amplitude of TSH elevations are higher in PSIS than in other causes of central hypothyroidism.


Subject(s)
Pituitary Diseases/metabolism , Thyrotropin/metabolism , Adult , Female , Hormone Replacement Therapy , Humans , Logistic Models , Male , Middle Aged , Pituitary Diseases/diagnostic imaging , Pituitary Diseases/drug therapy , Pituitary Diseases/epidemiology , Pituitary Gland/diagnostic imaging , Pituitary Gland/drug effects , Pituitary Gland/metabolism , Prevalence , Retrospective Studies , Thyrotropin/administration & dosage , Young Adult
8.
Endocr J ; 65(3): 269-279, 2018 Mar 28.
Article in English | MEDLINE | ID: mdl-29279458

ABSTRACT

Primary macronodular adrenal hyperplasia (PMAH), also known in the past as bilateral macronodular adrenalhyperplasia or adrenocorticotropin (ACTH)-independent macronodular adrenal hyperplasia, is a rare type of Cushing's syndrome (CS) and is associated with bilateralenlargement of the adrenal glands. It accounts for <1% of all endogenous cases of CS. In order toidentify the pathogenic mutations in the causative gene of (AIMAH pedigrees, Whole-genome sequencing of three patients in family I was used to retrieve candidate causative genes. Meanwhile, the causative gene was identified by Sanger sequencing from the two pedigrees. Sequencing of ARMC5 exons of three patients was carried out to identify somatic mutations. Moreover, haploid clone of one tumor DNA sample was conducted. ARMC5 was the causative gene of two pedigrees confirmed by whole-genome sequencing (WGA) and Sanger sequencing. The variant sites of the two families were c.C943T (p.R315W) and c.C1960T (p.R654X), respectively. Autosomal dominant inheritance of AIMAH was confirmed by genotypes of one family member. Several somatic mutations were discovered in tumor DNA samples. In addition, haploid clone of tumor DNA was confirmed by germline mutation and somaticmutation, which suggested the pathogenic mechanism of "two-hit-model." ARMC5 was the causative gene of AIMAH pedigrees. This AIMAH in this study presented autosomal dominant inheritance, fitting to Mendelian inheritance law. However, the pathogenic mode of this disease showed as compound heterozygote.


Subject(s)
Adrenal Glands/diagnostic imaging , Cushing Syndrome/genetics , Tumor Suppressor Proteins/genetics , Adult , Aged , Armadillo Domain Proteins , Cushing Syndrome/diagnostic imaging , Female , Genetic Predisposition to Disease , Genotype , Humans , Male , Middle Aged , Mutation , Pedigree , Tomography, X-Ray Computed , Whole Genome Sequencing
9.
Medicine (Baltimore) ; 96(24): e6934, 2017 Jun.
Article in English | MEDLINE | ID: mdl-28614220

ABSTRACT

RATIONALE: Immunoglobulin G4 (IgG4)-related hypophysitis is a type of IgG4-related disease (IgG4-RD), which is characterized by plasma cells infiltration in the pituitary causing functional changes and (or) space-occupying effect in the pituitary. IgG4-related hypophysitis is sensitive to hormone therapy in most patients, but recurrence is very likely. PATIENT CONCERNS: Here, we report a 57-year-old male patient with bilateral eye redness as the initial presentation. He later presented with pituitary hypofunction that involved multiple organs, including eyes, lacrimal gland, pituitary, lung, gall bladder, and intestine. There was an elevation of C-reactive protein and blood sedimentation, but the IgG and IgG4 levels of the serum and the cerebrospinal fluid did not increase obviously following irregular glucocorticoid therapy. Magnetic resonance imaging revealed enlarged pituitary and obviously thickened pituitary stalk. IgG4-related hypophysitis was confirmed by biopsy of the pituitary. DIAGNOSES: The patient was diagnosis of IgG4-related hypophysitis with ophthalmopathy by pathological and molecular tests. INTERVENTIONS: The patient responded to methylprednisolone pulse therapy but relapsed during the maintenance therapy using small-dose hormones combined with azathioprine. Methylprednisolone pulse therapy was given for 3 days followed by rituximab injection for 4 weeks. OUTCOMES: After use methylprednisolone pulse therapy with rituximab the patient achieved complete remission. LESSONS: Rituximab achieved good effect for recurrent IgG4-related hypophysitis after glucocorticoid therapy combined with immunosuppressant in this case. Moreover, comparative analysis was carried out with other reported cases of IgG4-related hypophysitis in terms of clinical features, treatment, and follow-up.


Subject(s)
Autoimmune Hypophysitis/complications , Autoimmune Hypophysitis/drug therapy , Eye Diseases/complications , Eye Diseases/drug therapy , Immunologic Factors/therapeutic use , Rituximab/therapeutic use , Autoimmune Hypophysitis/diagnosis , Autoimmune Hypophysitis/pathology , Diagnosis, Differential , Drug Therapy, Combination , Eye Diseases/diagnosis , Eye Diseases/pathology , Glucocorticoids/therapeutic use , Humans , Male , Methylprednisolone/therapeutic use , Middle Aged
10.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 24(5): 1533-1538, 2016 Oct.
Article in Chinese | MEDLINE | ID: mdl-27784388

ABSTRACT

OBJECTIVE: To investigate the imbalance of Tc1/Tc2,Th1/Th2 and Tc/Th in patients with systemic lupus erythematosus(SLE) and its relationship with the clinical stages of SLE. METHODS: The full blood culture and flow cytometry with fluorescence-labelled T lymphocytes were used to detect the levels of T-lymphocyte subsets and its intracellular factors IFN-γ and IL-4 in peripheral blood from SLP patients in active, inactive stages and normal healthy persons as controls, to compare the changes of Tc1,Tc2; Th1,Th2 levels and Tc/Th ratio in SLP patients in active and inactive stages, and to analyze their relationship with SLEDAI staging. RESULTS: Compared with healthy controls, the levels of CD4+/CD8+ in active SLE patients were significantly lower, but the levels of Tc1,Th1 in active SLE patients were higher than those in inactive SLE patients and normal controls. The ratio of Tc1/Tc2 and Th1/Th2 in the active SLE was higher than that in inactive SLE and normal controls(P<0.05), but the difference between inactive SLE patients and controls was not statistically significant (P>0.05). CONCLUSION: The Tc/Th imbalances and change of Tc and Th cells to Tc1 and Th1 cells play an important role in the pathogenesis of SLE.


Subject(s)
Lupus Erythematosus, Systemic , Flow Cytometry , Humans , Interleukin-4 , Lymphocyte Count , T-Lymphocyte Subsets , T-Lymphocytes, Helper-Inducer
11.
Medicine (Baltimore) ; 95(24): e3904, 2016 Jun.
Article in English | MEDLINE | ID: mdl-27310993

ABSTRACT

The extracellular matrix is important for tumor invasion and metastasis. Normal function of the extracellular matrix depends on the balance between matrix metalloproteinases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs). The objective of this meta-analysis was to assess the relationship between expression of MMP-9, MMP-2, and TIMP-2 and invasion of pituitary adenomas.We searched Pubmed, Embase, and the Chinese Biomedical Database up to October 2015. RevMan 5.1 software (Cochrane Collaboration, Copenhagen, Denmark) was used for statistical analysis. We calculated the standardized mean difference (SMD) for data expressed as mean ±â€Šstandard deviation because of the difference in the detection method.Twenty-four studies (1320 patients) were included. MMP-9 expression was higher in the patients with invasive pituitary adenomas (IPAs) than patients with noninvasive pituitary adenomas (NIPAs) with detection methods of IHC [odds ratio (OR) = 5.48, 95% confidence interval (CI) = 2.61-11.50, P < 0.00001), and reverse transcriptase-polymerase chain reaction (SMD = 2.28, 95% CI = 0.91-3.64, P = 0.001). MMP-2 expression was also increased in patients with IPAs at the protein level (OR = 3.58, 95% CI = 1.63-7.87, P = 0.001), and RNA level (SMD = 3.91, 95% CI = 1.52-6.29, P = 0.001). Meta-analysis showed that there was no difference in TIMP-2 expression between invasive and NIPAs at the protein level (OR = 0.38, 95% CI = 0.06-2.26, P = 0.29). MMP-9 expression in prolactinomas and nonfunctioning pituitary adenomas was also no difference (OR = 1.03, 95% CI = 0.48-2.20, P = 0.95).The results indicated that MMP-9 and -2 may be correlated with invasiveness of pituitary adenomas, although their relationship with functional status of pituitary adenomas is still not clear. TIMP-2 expression in IPAs needs to be investigated further.


Subject(s)
DNA, Neoplasm/genetics , Gene Expression Regulation, Neoplastic , Matrix Metalloproteinase 2/genetics , Matrix Metalloproteinase 9/genetics , Neoplasm Invasiveness/genetics , Pituitary Neoplasms/genetics , Tissue Inhibitor of Metalloproteinase-2/genetics , Biomarkers, Tumor/biosynthesis , Biomarkers, Tumor/genetics , Case-Control Studies , Clinical Trials as Topic , Humans , Immunohistochemistry , Matrix Metalloproteinase 2/biosynthesis , Matrix Metalloproteinase 9/biosynthesis , Pituitary Neoplasms/enzymology , Tissue Inhibitor of Metalloproteinase-2/biosynthesis
12.
J Pediatr Endocrinol Metab ; 29(2): 209-16, 2016 Feb.
Article in English | MEDLINE | ID: mdl-26495923

ABSTRACT

BACKGROUND: Reninoma is an extremely rare renal tumor characterized by excessive renin secretion causing secondary hypertension and hypokalemia. Reninoma is a benign and highly manageable lesion if it is discovered early and removed surgically. METHODS: We report six cases of reninoma and provide a literature review on this rare disease, highlighting the diagnostic evaluation and follow-up of each patient. RESULTS AND CONCLUSIONS: Reninoma should be considered in young adults with elevated renin activity and refractory hypertension. Imaging studies and selective venous catheterization are often helpful in identifying the lesion. In most cases of reninoma presenting with renin-mediated hypertension, conservative surgical treatment should be considered to remove the small, superficial lesion.


Subject(s)
Hypertension/physiopathology , Renin/physiology , Adolescent , Adult , Female , Humans , Male , Young Adult
13.
Am J Hypertens ; 29(5): 575-81, 2016 May.
Article in English | MEDLINE | ID: mdl-26304960

ABSTRACT

BACKGROUND: Parathyroid hormone (PTH) stimulates aldosterone secretion in human adrenocortex and is regulated by the renin-angiotensin-aldosterone system. We speculated that measurement of PTH may be a valuable aid in the diagnosis of aldosterone-producing adenoma (APA). METHODS: To test this hypothesis, we recruited 142 patients with adrenal adenoma, of whom 84 had an APA and 58 had a nonfunctioning adrenal adenoma (NFA). Plasma levels of intact PTH, serum potassium, sodium, calcium, phosphate, 25(OH) vitamin D, plasma aldosterone concentration (PAC), plasma renin activity (PRA), and aldosterone to renin ratio (ARR) were measured in every patient. Computed tomography (CT) scanning of the adrenal gland and adrenal hormone levels was used to evaluate the function of the adrenal adenoma. We also evaluated the impact of renin-angiotensin-aldosterone system (RAAS) components on PTH from the recumbent-upright test in 15 patients with APA and 30 patients with NFA. RESULTS: Compared with NFA, PTH levels were significantly increased in patients with APA, and serum calcium and phosphate were significantly decreased. When position was changed from supine to upright, the variation in PTH levels was significantly higher in APA patients compared with NFA patients. Receiver operator characteristic (ROC) curves identified the Youden index, which corresponded to the best tradeoff of combined marker (ARR and PTH) with a sensitivity and specificity of 89.3% and 93.1%, respectively. CONCLUSIONS: The baseline and positional variation of serum PTH levels were significant in APA, thus PTH may be a promising auxiliary index for the clinical diagnosis of APA.


Subject(s)
Adenoma/diagnosis , Adrenal Gland Neoplasms/diagnosis , Aldosterone/metabolism , Biomarkers, Tumor/blood , Biomarkers, Tumor/metabolism , Parathyroid Hormone/blood , Adenoma/blood , Adenoma/metabolism , Adrenal Gland Neoplasms/blood , Adrenal Gland Neoplasms/metabolism , Adrenal Gland Neoplasms/urine , Adult , Aldosterone/blood , Aldosterone/urine , Area Under Curve , Biomarkers, Tumor/urine , Electrochemical Techniques , Female , Humans , Male , Middle Aged , Patient Positioning , Predictive Value of Tests , ROC Curve , Reproducibility of Results , Supine Position , Tomography, X-Ray Computed , Up-Regulation
14.
Exp Biol Med (Maywood) ; 240(11): 1480-9, 2015 Nov.
Article in English | MEDLINE | ID: mdl-26031747

ABSTRACT

Kallmann syndrome, a form of idiopathic hypogonadotropic hypogonadism, is characterized by developmental abnormalities of the reproductive system and abnormal olfaction. Despite association of certain genes with idiopathic hypogonadotropic hypogonadism, the genetic inheritance and expression are complex and incompletely known. In the present study, seven Kallmann syndrome pedigrees in an ethnic Han Chinese population were screened for genetic mutations. The exons and intron-exon boundaries of 19 idiopathic hypogonadotropic hypogonadism (idiopathic hypogonadotropic hypogonadism)-related genes in seven Chinese Kallmann syndrome pedigrees were sequenced. Detected mutations were also tested in 70 sporadic Kallmann syndrome cases and 200 Chinese healthy controls. In pedigrees 1, 2, and 7, the secondary sex characteristics were poorly developed and the patients' sense of smell was severely or completely lost. We detected a genetic mutation in five of the seven pedigrees: homozygous KAL1 p.R191ter (pedigree 1); homozygous KAL1 p.C13ter (pedigree 2; a novel mutation); heterozygous FGFR1 p.R250W (pedigree 3); and homozygous PROKR2 p.Y113H (pedigrees 4 and 5). No genetic change of the assayed genes was detected in pedigrees 6 and 7. Among the 70 sporadic cases, we detected one homozygous and one heterozygous PROKR2 p.Y113H mutation. This mutation was also detected heterozygously in 2/200 normal controls and its pathogenicity is likely questionable. The genetics and genotype-phenotype relationships in Kallmann syndrome are complicated. Classical monogenic inheritance does not explain the full range of genetic inheritance of Kallmann syndrome patients. Because of stochastic nature of genetic mutations, exome analyses of Kallmann syndrome patients may provide novel insights.


Subject(s)
DNA Mutational Analysis , Kallmann Syndrome/ethnology , Kallmann Syndrome/genetics , Adolescent , Adult , Amino Acid Sequence , Child , China , Codon, Nonsense , Exons , Extracellular Matrix Proteins/genetics , Family Health , Female , Genetic Association Studies , Heterozygote , Homozygote , Humans , Hypogonadism/ethnology , Hypogonadism/genetics , Introns , Male , Middle Aged , Molecular Sequence Data , Nerve Tissue Proteins/genetics , Pedigree , Phenotype , Receptor, Fibroblast Growth Factor, Type 1/genetics , Receptors, G-Protein-Coupled/genetics , Receptors, Peptide/genetics , Sequence Homology, Amino Acid , Young Adult
15.
Medicine (Baltimore) ; 94(21): e841, 2015 May.
Article in English | MEDLINE | ID: mdl-26020388

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.


Subject(s)
Carcinoma, Papillary/diagnostic imaging , Carcinoma, Papillary/diagnosis , Carcinoma/diagnostic imaging , Carcinoma/diagnosis , Thyroid Neoplasms/diagnostic imaging , Thyroid Neoplasms/diagnosis , Adolescent , Adult , Aged , Aged, 80 and over , Biopsy, Fine-Needle , Calcinosis , Carcinoma/surgery , Carcinoma, Papillary/surgery , Child , China , Diagnosis, Differential , Female , Humans , Male , Middle Aged , Retrospective Studies , Risk Factors , Thyroid Cancer, Papillary , Thyroid Neoplasms/surgery , Ultrasonography , Young Adult
16.
Int J Endocrinol ; 2015: 192874, 2015.
Article in English | MEDLINE | ID: mdl-25838823

ABSTRACT

Aim. To investigate incidental adrenal enlargement clinical characteristics and functional status and analyze functional lesion risk factors. Materials and Methods. This retrospective study included 578 patients with adrenal imaging features showing enlargement. Incidental adrenal enlargement cases (78) were considered eligible. Demographics, functional diagnosis, adrenal imaging features, and concomitant diseases were analyzed. Results. The number of adrenal enlargements and proportion of incidental adrenal enlargement increased each year. Mean patient age was 50.32 years. Thirty-nine cases had unilateral enlargement on the left side and 3 on the right side; 36 had bilateral enlargement. Routine medical checkup was found to have the greatest chance (43.59%) of revealing clinical onsets leading to discovery. Biochemical and functional evaluation revealed 54 (69.23%) cases of nonfunctional lesions, 12 (15.38%) of subclinical Cushing syndrome, 6 (7.69%) of primary hyperaldosteronism, 1 (1.28%) of metastasis, and 5 (6.41%) of unknown functional status. Nodular adrenal enlargement (OR, 7.306; 95% CI, 1.727-28.667; P = 0.006) was a risk factor for functional lesions. Age and lesion location were not significant factors. Conclusion. Incidental adrenal enlargement is a frequent radiographic finding and is accompanied by diverse clinical factors that require proper evaluation and management. Nodular adrenal enlargement was a risk factor.

17.
J Immunol ; 193(5): 2587-99, 2014 Sep 01.
Article in English | MEDLINE | ID: mdl-25070852

ABSTRACT

Adoptive immunotherapy with Ag-specific T lymphocytes is a powerful strategy for cancer treatment. However, most tumor Ags are nonreactive "self" proteins, which presents an immunotherapy design challenge. Recent studies have shown that tumor-specific TCRs can be transduced into normal PBLs, which persist after transfer in ∼30% of patients and effectively destroy tumor cells in vivo. Although encouraging, the limited clinical responses underscore the need for enrichment of T cells with desirable antitumor capabilities prior to patient transfer. In this study, we used structure-based design to predict point mutations of a TCR (DMF5) that enhance its binding affinity for an agonist tumor Ag-MHC (peptide-MHC [pMHC]), Mart-1 (27L)-HLA-A2, which elicits full T cell activation to trigger immune responses. We analyzed the effects of selected TCR point mutations on T cell activation potency and analyzed cross-reactivity with related Ags. Our results showed that the mutated TCRs had improved T cell activation potency while retaining a high degree of specificity. Such affinity-optimized TCRs have demonstrated to be very specific for Mart-1 (27L), the epitope for which they were structurally designed. Although of somewhat limited clinical relevance, these studies open the possibility for future structural-based studies that could potentially be used in adoptive immunotherapy to treat melanoma while avoiding adverse autoimmunity-derived effects.


Subject(s)
Epitopes, T-Lymphocyte , MART-1 Antigen , Peptides , Protein Engineering , Receptors, Antigen, T-Cell , Animals , Cell Line, Tumor , Epitopes, T-Lymphocyte/chemistry , Epitopes, T-Lymphocyte/genetics , Epitopes, T-Lymphocyte/immunology , Humans , Lymphocyte Activation , MART-1 Antigen/chemistry , MART-1 Antigen/genetics , MART-1 Antigen/immunology , Peptides/chemistry , Peptides/immunology , Point Mutation , Receptors, Antigen, T-Cell/chemistry , Receptors, Antigen, T-Cell/genetics , Receptors, Antigen, T-Cell/immunology , Structure-Activity Relationship
18.
Endocr J ; 60(11): 1261-8, 2013.
Article in English | MEDLINE | ID: mdl-24018882

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.


Subject(s)
Adenoma/epidemiology , Adenoma/metabolism , Adrenal Gland Neoplasms/metabolism , Aldosterone/metabolism , Hypertension/epidemiology , Hypertension/prevention & control , Sodium/blood , Adenoma/surgery , Adrenal Gland Neoplasms/epidemiology , Adrenal Gland Neoplasms/surgery , Adrenalectomy , Aldosterone/biosynthesis , Biomarkers/blood , Cerebrovascular Disorders/epidemiology , China/epidemiology , Comorbidity , Female , Gonadal Steroid Hormones/metabolism , Humans , Hyperaldosteronism/epidemiology , Hyperaldosteronism/metabolism , Male , Middle Aged , Potassium/blood , Retrospective Studies , Sex Characteristics , Sex Distribution , Sex Factors , Vascular Diseases/epidemiology
19.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 21(2): 396-8, 2013 Apr.
Article in Chinese | MEDLINE | ID: mdl-23628040

ABSTRACT

This study was aimed to investigate the expression of p53-inducible gene 3 (PIG-3) in diffuse large B cell lymphoma (DLBCL) and the relationship between PIG-3 and the pathogenesis of lymphoma. The expression of PIG-3 in 20 patients with DLBCL and 20 healthy adults (as a control group) was detected by Western blot and RT-PCR. The results showed that the expression of PIG-3 protein in patients with DLBCL was significantly lower than that in controls, but the expression of PIG-3 was higher after chemotherapy for 6 months than that before chemotherapy. RT-PCR detection demonstrated that the size of PIG-3 amplified product is 1285 bp, which is coincident with theoretic value. It is concluded that the down-regulation of PIG-3 expression may be closely related to pathogenesis of DLBCL, so the PIG-3 gene can considered as a important marker for judging therapeutic efficacy and prognosis of patients with DLBCL.


Subject(s)
Intracellular Signaling Peptides and Proteins/genetics , Lymphoma, Large B-Cell, Diffuse/diagnosis , Lymphoma, Large B-Cell, Diffuse/genetics , Proto-Oncogene Proteins/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Case-Control Studies , Female , Humans , Male , Middle Aged , Prognosis , Young Adult
20.
Zhonghua Nei Ke Za Zhi ; 52(12): 1041-4, 2013 Dec.
Article in Chinese | MEDLINE | ID: mdl-24503403

ABSTRACT

OBJECTIVE: To explore the imaging features of congenital adrenal cortex hyperplasia (CAH). METHODS: 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. RESULTS: 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 inequitable. CONCLUSIONS: 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.


Subject(s)
Adrenal Hyperplasia, Congenital/diagnostic imaging , Tomography, Spiral Computed , Adolescent , Adult , Child , Female , Humans , Male , Retrospective Studies , Young Adult
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