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1.
Endocr J ; 65(3): 269-279, 2018 Mar 28.
Artículo en Inglés | MEDLINE | ID: mdl-29279458

RESUMEN

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.


Asunto(s)
Glándulas Suprarrenales/diagnóstico por imagen , Síndrome de Cushing/genética , Proteínas Supresoras de Tumor/genética , Adulto , Anciano , Proteínas del Dominio Armadillo , Síndrome de Cushing/diagnóstico por imagen , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Mutación , Linaje , Tomografía Computarizada por Rayos X , Secuenciación Completa del Genoma
2.
J Immunol ; 193(5): 2587-99, 2014 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-25070852

RESUMEN

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.


Asunto(s)
Epítopos de Linfocito T , Antígeno MART-1 , Péptidos , Ingeniería de Proteínas , Receptores de Antígenos de Linfocitos T , Animales , Línea Celular Tumoral , Epítopos de Linfocito T/química , Epítopos de Linfocito T/genética , Epítopos de Linfocito T/inmunología , Humanos , Activación de Linfocitos , Antígeno MART-1/química , Antígeno MART-1/genética , Antígeno MART-1/inmunología , Péptidos/química , Péptidos/inmunología , Mutación Puntual , Receptores de Antígenos de Linfocitos T/química , Receptores de Antígenos de Linfocitos T/genética , Receptores de Antígenos de Linfocitos T/inmunología , Relación Estructura-Actividad
3.
Endocr J ; 60(11): 1261-8, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24018882

RESUMEN

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.


Asunto(s)
Adenoma/epidemiología , Adenoma/metabolismo , Neoplasias de las Glándulas Suprarrenales/metabolismo , Aldosterona/metabolismo , Hipertensión/epidemiología , Hipertensión/prevención & control , Sodio/sangre , Adenoma/cirugía , Neoplasias de las Glándulas Suprarrenales/epidemiología , Neoplasias de las Glándulas Suprarrenales/cirugía , Adrenalectomía , Aldosterona/biosíntesis , Biomarcadores/sangre , Trastornos Cerebrovasculares/epidemiología , China/epidemiología , Comorbilidad , Femenino , Hormonas Esteroides Gonadales/metabolismo , Humanos , Hiperaldosteronismo/epidemiología , Hiperaldosteronismo/metabolismo , Masculino , Persona de Mediana Edad , Potasio/sangre , Estudios Retrospectivos , Caracteres Sexuales , Distribución por Sexo , Factores Sexuales , Enfermedades Vasculares/epidemiología
4.
Zhonghua Nei Ke Za Zhi ; 52(12): 1041-4, 2013 Dec.
Artículo en Zh | MEDLINE | ID: mdl-24503403

RESUMEN

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.


Asunto(s)
Hiperplasia Suprarrenal Congénita/diagnóstico por imagen , Tomografía Computarizada Espiral , Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Estudios Retrospectivos , Adulto Joven
5.
Neuro Endocrinol Lett ; 43(4): 233-238, 2022 Nov 30.
Artículo en Inglés | MEDLINE | ID: mdl-36528886

RESUMEN

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.


Asunto(s)
Cálculos Renales , Neoplasias de las Paratiroides , Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Neoplasias de las Paratiroides/complicaciones , Neoplasias de las Paratiroides/diagnóstico , Neoplasias de las Paratiroides/cirugía , Antígeno Ki-67 , Pronóstico , Dolor
6.
Neuro Endocrinol Lett ; 43(2): 113-118, 2022 Jun 07.
Artículo en Inglés | MEDLINE | ID: mdl-35933617

RESUMEN

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.


Asunto(s)
Epilepsia , Hipoparatiroidismo , Tetania , Calcitriol , Calcio , Análisis de Datos , Errores Diagnósticos , Epilepsia/complicaciones , Epilepsia/diagnóstico , Epilepsia/tratamiento farmacológico , Femenino , Humanos , Hipoparatiroidismo/diagnóstico , Hipoparatiroidismo/tratamiento farmacológico , Masculino , Hormona Paratiroidea , Fósforo , Poliésteres , Tetania/inducido químicamente , Tetania/complicaciones , Tetania/tratamiento farmacológico
7.
Endocr J ; 58(8): 675-83, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-21666339

RESUMEN

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.


Asunto(s)
Enfermedades Autoinmunes/tratamiento farmacológico , Azatioprina/administración & dosificación , Encefalitis/tratamiento farmacológico , Glucocorticoides/administración & dosificación , Enfermedades de la Hipófisis/tratamiento farmacológico , Adulto , Anciano , Antiinflamatorios/administración & dosificación , Quimioterapia Combinada , Femenino , Humanos , Inmunosupresores/administración & dosificación , Recurrencia , Resultado del Tratamiento , Adulto Joven
8.
World J Clin Cases ; 9(14): 3478-3486, 2021 May 16.
Artículo en Inglés | MEDLINE | ID: mdl-34002161

RESUMEN

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.

9.
Neuro Endocrinol Lett ; 42(1): 43-47, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-34009764

RESUMEN

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.


Asunto(s)
Epilepsia , Insulinoma , Neoplasias Pancreáticas , Adulto , China , Errores Diagnósticos , Epilepsia/diagnóstico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia , Neoplasias Pancreáticas/diagnóstico , Estudios Retrospectivos
10.
Zhonghua Nei Ke Za Zhi ; 49(10): 851-4, 2010 Oct.
Artículo en Zh | MEDLINE | ID: mdl-21162887

RESUMEN

OBJECTIVE: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.


Asunto(s)
Neoplasias Encefálicas , Gonadotropina Coriónica/líquido cefalorraquídeo , Germinoma , Adolescente , Adulto , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/terapia , Niño , Gonadotropina Coriónica/sangre , Femenino , Germinoma/diagnóstico , Germinoma/terapia , Humanos , Masculino , Estudios Retrospectivos , Adulto Joven
11.
Zhonghua Nei Ke Za Zhi ; 48(11): 947-50, 2009 Nov.
Artículo en Zh | MEDLINE | ID: mdl-20079329

RESUMEN

OBJECTIVES: To investigate the expression level of chronic lymphocytic leukemia (CLL) up-regulated gene 1 (CLLU1) mRNA in CLL and its prognostic value in CLL. METHODS: Real-time quantitative RT-PCR (qRT-PCR) was performed on 41 CLL patients using Taqman probe system. Correlation of CLLU1 expression ratio with other prognostic factors was carried out using Spearman correlation coefficient. RESULTS: The correlation coefficients of the standard curves in qRT-PCR were above 0.99. The coefficients of variation (CV) of interrun assay and intrarun assay were < 5% and the sensitivity reached 10(2) copies/microg RNA. The median CLLU1 mRNA expression level was 0.139 (0 - 5256.912) in 41 CLL patients. CLLU1 expression was significantly associated with Binet stages (P = 0.040) and IgVH mutation status (P = 0.021). CLLU1 expression was also associated with CD(38) expression (P = 0.045). CONCLUSION: qRT-PCR assay is reliable and sensitive. CLLU1 mRNA expression significantly correlates with clinical stages, IgVH mutation status and CD(38) expression and might be a prognostic maker of CLL.


Asunto(s)
Leucemia Linfocítica Crónica de Células B , Proteína Tirosina Quinasa ZAP-70 , ADP-Ribosil Ciclasa 1 , Humanos , ARN Mensajero/genética , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa
12.
World J Clin Cases ; 7(8): 961-971, 2019 Apr 26.
Artículo en Inglés | MEDLINE | ID: mdl-31119141

RESUMEN

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.

13.
Zhonghua Yi Xue Za Zhi ; 88(14): 990-3, 2008 Apr 08.
Artículo en Zh | MEDLINE | ID: mdl-18756974

RESUMEN

OBJECTIVE: To study the effects of homocysteine (Hcy) on the insulin secretion and apoptosis of pancreatic beta cells. METHODS: Clonal mouse pancreatic beta cells of the line NIT-1 were cultured and exposed to Hcy of 50, 100, 250, 500 and 1000 micromol/L for 6, 12, 24, and 48 hours respectively, then glucose of the concentrations of 5.6 mmol/L or 16.7 mmol/L was added for 1 h, and then the insulin concentration in the culture medium was determined by radioimmunoassay, and MTT method was used to detect the survival rate of the cells. NIT-1 cells were exposed to Hcy of the concentrations of 0, 50, 100, 250, 500 and 1000 micromol/L respectively for 24 h, another NIT-1 cells were exposed to Hcy of the final concentration of 250 micromol/L for 0, 6, 12, and 48 h respectively, then flow cytometry (FC) was used to detect the apoptosis of the cells. After exposure to Hcy of the concentrations of 50, 100, 250, 500 and 1000 micromol/L for 72 h DNA agarose gel electrophoresis was performed. RESULTS: Hcy inhibited the basal and glucose-induced insulin secretion in a time- and dose-dependent manner. The insulin secretion amounts of the NIT-1 cells after exposure to 50 micromol/L Hcy for 24 hours and to 100 micromol/L Hcy for 12 hours were significantly lower by 17.1% and 10.8% compared with the control group (all P < 0.01). Incubated with 100 micromol/L Hcy for 12 hours and 24 hours respectively, the survival rates of the NIT-1 cells were 94.56% and 87.93% respectively (P < 0.05, P < 0.01). Incubated with 100 micromol/L Hcy for 24 hours, the apoptosis rate of the NIT-1 cells was 7.21% (P < 0.01); and incubated with 250 micromol/L Hcy for 12 hours, the apoptosis rate of the NIT-1 cells was 12.93% (P < 0.01). Both FC and agarose gel electrophoresis indicated that Hcy induced cell apoptosis time- and concentration-dependently. CONCLUSION: Hcy impairs insulin secretion and induces cell apoptosis of pancreatic beta cells time- and concentration-dependently.


Asunto(s)
Apoptosis/efectos de los fármacos , Homocisteína/farmacología , Células Secretoras de Insulina/efectos de los fármacos , Insulina/metabolismo , Animales , Línea Celular Tumoral , Supervivencia Celular/efectos de los fármacos , Relación Dosis-Respuesta a Droga , Citometría de Flujo , Células Secretoras de Insulina/metabolismo , Células Secretoras de Insulina/patología , Islotes Pancreáticos/metabolismo , Ratones , Radioinmunoensayo
14.
World J Gastroenterol ; 24(46): 5189-5202, 2018 Dec 14.
Artículo en Inglés | MEDLINE | ID: mdl-30581268

RESUMEN

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.


Asunto(s)
Antineoplásicos/efectos adversos , Efectos Colaterales y Reacciones Adversas Relacionados con Medicamentos/terapia , Tumores del Estroma Gastrointestinal/tratamiento farmacológico , Inhibidores de Proteínas Quinasas/efectos adversos , Proteínas Tirosina Quinasas/antagonistas & inhibidores , China , Consenso , Efectos Colaterales y Reacciones Adversas Relacionados con Medicamentos/etiología , Humanos , Médicos/normas , Sociedades Médicas/normas
15.
Medicine (Baltimore) ; 97(2): e9084, 2018 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-29480822

RESUMEN

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.


Asunto(s)
Enfermedades de la Hipófisis/metabolismo , Tirotropina/metabolismo , Adulto , Femenino , Terapia de Reemplazo de Hormonas , Humanos , Modelos Logísticos , Masculino , Persona de Mediana Edad , Enfermedades de la Hipófisis/diagnóstico por imagen , Enfermedades de la Hipófisis/tratamiento farmacológico , Enfermedades de la Hipófisis/epidemiología , Hipófisis/diagnóstico por imagen , Hipófisis/efectos de los fármacos , Hipófisis/metabolismo , Prevalencia , Estudios Retrospectivos , Tirotropina/administración & dosificación , Adulto Joven
16.
Zhonghua Yi Xue Za Zhi ; 87(4): 256-8, 2007 Jan 23.
Artículo en Zh | MEDLINE | ID: mdl-17425871

RESUMEN

OBJECTIVE: 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. METHODS: 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. RESULTS: 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). CONCLUSION: 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.


Asunto(s)
Hidrolasas de Éster Carboxílico/sangre , Diabetes Mellitus Tipo 2/tratamiento farmacológico , Ácido Fólico/uso terapéutico , Homocisteína/sangre , Vitamina B 12/análogos & derivados , Administración Oral , Adulto , Anciano , Arildialquilfosfatasa/sangre , Arildialquilfosfatasa/metabolismo , Hidrolasas de Éster Carboxílico/metabolismo , Diabetes Mellitus Tipo 2/sangre , Quimioterapia Combinada , Ácido Fólico/administración & dosificación , Ácido Fólico/sangre , Humanos , Inyecciones Intramusculares , Persona de Mediana Edad , Resultado del Tratamiento , Vitamina B 12/administración & dosificación , Vitamina B 12/sangre , Vitamina B 12/uso terapéutico , Complejo Vitamínico B/administración & dosificación , Complejo Vitamínico B/uso terapéutico
17.
Medicine (Baltimore) ; 96(24): e6934, 2017 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-28614220

RESUMEN

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.


Asunto(s)
Hipofisitis Autoinmune/complicaciones , Hipofisitis Autoinmune/tratamiento farmacológico , Oftalmopatías/complicaciones , Oftalmopatías/tratamiento farmacológico , Factores Inmunológicos/uso terapéutico , Rituximab/uso terapéutico , Hipofisitis Autoinmune/diagnóstico , Hipofisitis Autoinmune/patología , Diagnóstico Diferencial , Quimioterapia Combinada , Oftalmopatías/diagnóstico , Oftalmopatías/patología , Glucocorticoides/uso terapéutico , Humanos , Masculino , Metilprednisolona/uso terapéutico , Persona de Mediana Edad
18.
Medicine (Baltimore) ; 95(24): e3904, 2016 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-27310993

RESUMEN

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.


Asunto(s)
ADN de Neoplasias/genética , Regulación Neoplásica de la Expresión Génica , Metaloproteinasa 2 de la Matriz/genética , Metaloproteinasa 9 de la Matriz/genética , Invasividad Neoplásica/genética , Neoplasias Hipofisarias/genética , Inhibidor Tisular de Metaloproteinasa-2/genética , Biomarcadores de Tumor/biosíntesis , Biomarcadores de Tumor/genética , Estudios de Casos y Controles , Ensayos Clínicos como Asunto , Humanos , Inmunohistoquímica , Metaloproteinasa 2 de la Matriz/biosíntesis , Metaloproteinasa 9 de la Matriz/biosíntesis , Neoplasias Hipofisarias/enzimología , Inhibidor Tisular de Metaloproteinasa-2/biosíntesis
19.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 24(5): 1533-1538, 2016 Oct.
Artículo en Zh | MEDLINE | ID: mdl-27784388

RESUMEN

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.


Asunto(s)
Lupus Eritematoso Sistémico , Citometría de Flujo , Humanos , Interleucina-4 , Recuento de Linfocitos , Subgrupos de Linfocitos T , Linfocitos T Colaboradores-Inductores
20.
Am J Hypertens ; 29(5): 575-81, 2016 May.
Artículo en Inglés | MEDLINE | ID: mdl-26304960

RESUMEN

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.


Asunto(s)
Adenoma/diagnóstico , Neoplasias de las Glándulas Suprarrenales/diagnóstico , Aldosterona/metabolismo , Biomarcadores de Tumor/sangre , Biomarcadores de Tumor/metabolismo , Hormona Paratiroidea/sangre , Adenoma/sangre , Adenoma/metabolismo , Neoplasias de las Glándulas Suprarrenales/sangre , Neoplasias de las Glándulas Suprarrenales/metabolismo , Neoplasias de las Glándulas Suprarrenales/orina , Adulto , Aldosterona/sangre , Aldosterona/orina , Área Bajo la Curva , Biomarcadores de Tumor/orina , Técnicas Electroquímicas , Femenino , Humanos , Masculino , Persona de Mediana Edad , Posicionamiento del Paciente , Valor Predictivo de las Pruebas , Curva ROC , Reproducibilidad de los Resultados , Posición Supina , Tomografía Computarizada por Rayos X , Regulación hacia Arriba
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