Endocrinologia

Oviedo, Spain

Endocrinologia

Oviedo, Spain
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Riobello C.,Genetica Molecular Laboratorio Medicina | Gomez J.,Genetica Molecular Laboratorio Medicina | Gil-Pena H.,Pediatria | Reguero J.R.,Cardiologia Fundacion Asturcor | And 15 more authors.
Molecular and Cellular Endocrinology | Year: 2016

Several common KCNQ1 gene polymorphisms have been associated with the risk of type 2 diabetes (T2DM) and diabetic nephropathy. This effect is explained by the role of the kcnq1 protein as a potassium channel that in the pancreatic beta-cells drives an electrical signal that facilitates glucose-stimulated insulin secretion. The KCNQ1 gene is also expressed in the kidney, and could thus be implicated in the risk of developing impaired renal function. To test this hypothesis, we genotyped six common KCNQ1 gene variants (three single nucleotide polymorphisms, rs2237892, rs2237895, and rs231362, and three intronic indels) in 681 healthy elderly individuals (>65 years old) from the Spanish Renastur cohort. None of the six variants was associated with T2DM (180 diabetics vs. 581 non-diabetics). The intron 12 insertion allele was associated with a reduced estimated glomerular filtration rate (eGFR<60, n = 90 vs. eGFR≥60, n = 591; II vs ID + DD genotypes, p = 0.031, OR = 2.06, 95%CI = 1.12-4.14). We also performed a next generation sequencing search of variants in the coding regions of the KCNQ1 gene in 100 individuals with the extreme eGFR values. We found two rare amino acid changes (p.K393N and p.P408A) and the 393 Asn variant was found only among diabetics (n = 4; p = 0.05). The two rare alleles were present in the two eGFR groups.Our results suggest that a common KCNQ1 intron 12 indel polymorphism is a risk factor for impaired renal function independent of T2DM. If this association is confirmed by others, further research to determine the mechanism that drives this association would be warranted. © 2016 Elsevier Ireland Ltd.


Garcia-Carrazco C.F.,IMSS UMAE No 25 | Nacud-Bezies Y.A.,IMSS UMAE No 25 | Espinoza-Velazco A.,IMSS UMAE No 25 | Rivera-Castillo E.J.,Endocrinologia | Marquez-Toscano J.R.,IMSS UMAE No 25
Gaceta Mexicana de Oncologia | Year: 2012

The suprarrenal carcinoma is a rare disease. More than 60% of those tumors are functional: Cushing's syndrome (45%), Cushing and virilization (25%), virilization alone (10%, in children more than 85%). Nonfunctional tumors occur as incidentalomas in advanced age and have worse prognosis. It is diagnosed by CT o MRI. Functional tumors must to be show hypercortisolism. Potentially curative treatment is surgical resection. Advanced disease has poor response to mitotane and chemotherapy. Adrenal insufficiency post resection should be avoided with use of steroids. We present a female 34 year-old, whit morbid obesity (BMI: 55 kg/m2), hypertension, hypotiroidism, venous insufficiency and varicose ulcers, amenorrhea, hirsutism and dermatitis acneiform. Laboratories test detected hypercortisolism and an abdominal CT scan showed a giant left adrenal tumor. She underwent left adrenalectomy-nefrectomy, splenectomy and distal pancreatectomy. During postsurgical period developed acute kidney injury requiring hemodialysis, which exacerbate the postoperative adrenal insufficiency and died at the five day. It is important detect this condition in early stages due survival rates at 5 years are: Stage I 82%, Stage II 61%, Stage III 50% y Stage IV 13%. Without resection the survival rate is 6-9 months, even whit the use of mitotane; its main benefit is to decrease symptoms of hypercortisolism. Currently the survival has been improved with adequate surgical resection and adjuvant therapy whit mitotane and cytotoxic drugs.


Umpierrez G.,Emory University | Povedano S.T.,Endocrinologia | Shurzinske L.,Eli Lilly and Company | Pechtner V.,Eli Lilly and Company
Diabetes Care | Year: 2014

OBJECTIVE: Compare the efficacy and safety of monotherapy with dulaglutide, a once-weekly GLP-1 receptor agonist, to metformin-treated patients with type 2 diabetes. The primary objective compared dulaglutide 1.5 mg and metformin on change from baseline glycosylated hemoglobin A1c (HbA1c) at 26 weeks. RESEARCH DESIGN AND METHODS: This 52-week double-blind study randomized patients to subcutaneous dulaglutide 1.5 mg, dulaglutide 0.75 mg, or metformin. Patients (N = 807) had HbA1c ≥6.5% (≥48 mmol/mol) and ≤9.5% (≤80 mmol/mol) with diet and exercise alone or low-dose oral antihyperglycemic medication (OAM) monotherapy; OAMs were discontinued at beginning of lead-in period. RESULTS: At 26 weeks, changes from baseline HbA1c (least squares [LS] mean ± SE) were: dulaglutide 1.5 mg, 20.78 ± 0.06% (28.5 ± 0.70 mmol/mol); dulaglutide 0.75 mg, 20.7160.06% (27.860.70 mmol/mol);andmetformin, 20.5660.06% (26.1 ± 0.70 mmol/mol). Dulaglutide 1.5 and 0.75 mg were superior to metformin (LS mean difference): 20.22% (22.4 mmol/mol) and 20.15% (21.6 mmol/mol) (one-sided P < 0.025, both comparisons), respectively. Greater percentages reached HbA 1c targets <7.0% (<53 mmol/mol) and ≤6.5% (≤48 mmol/mol) with dulaglutide 1.5 and 0.75 mg compared with metformin (P < 0.05, all comparisons). No severe hypoglycemia was reported. Compared with metformin, decrease in weight was similar with dulaglutide 1.5 mg and smaller with dulaglutide 0.75 mg. Over 52 weeks, nausea, diarrhea, and vomiting were the most common adverse events; incidences were similar between dulaglutide and metformin. CONCLUSIONS: Dulaglutide improves glycemic control and is well tolerated as monotherapy in patients with early stage type 2 diabetes. © 2014 by the American Diabetes Association.


Dominguez-Moreno R.,Medicina Interna | Bahena-Lopez E.,Medicina Interna | Neach-De L.V.D.,Medicina Interna | Venegas-Roman A.,Medicina Interna | And 3 more authors.
Medicina Interna de Mexico | Year: 2016

The prevalence of chest pain is variable, ischemic heart disease is one of the most frequent causes with high morbidity and mortality. This paper reports the case of a 21-year-old male, who started five days earlier with malaise, hyporexia, nausea and diarrhea of 2-3 times a day without mucus and blood and not associated with food intake. Subsequently sense of gastroesophageal reflux and chest pain were added, so we suspected gastrointestinal etiology; however, during his evolution in hospital, patient cursed with fever, oppressive chest pain and tachycardia; so, acute myocarditis was diagnosed. Patient was discharged after five days because clinical improvement, without presenting any complications or sequelae. It is important to assess in a timely manner causes threatening life, especially ischemic heart disease. It is important to do a proper medical history, physical examination and support studies in search of the etiology. If ischemic heart disease is suspected, risk should be stratified in order to install adequate and timely therapy.


Sperone P.,University of Turin | Ferrero A.,University of Turin | Daffara F.,University of Turin | Priola A.,University of Turin | And 15 more authors.
Endocrine-Related Cancer | Year: 2010

Adrenocortical carcinoma (ACC) is a rare neoplasm characterized by poor prognosis. First-line systemic treatments in advanced disease include mitotane, either alone or in combination with chemotherapy. Studies evaluating second-line therapy options have obtained disappointing results. This trial assessed the activity and toxicity of gemcitabine plus metronomic fluoropyrimidines in heavily pretreated advanced ACC patients. From 1998 to 2008, 28 patients with advanced ACC progressing after mitotane plus one or two systemic chemotherapy lines were enrolled. They received a combination of i.v. gemcitabine (800 mg/m2, on days 1 and 8, every 21 days) and i.v. 5-fluorouracil protracted infusion (200 mg/m22/daily without interruption until progression) in the first six patients, or oral capecitabine (1500 mg/daily) in the subsequent patients. Mitotane administration was maintained in all cases. The rate of non-progressing patients after 4 months of treatment was 46.3%. A complete response was observed in 1 patient (3.5%); 1 patient (3.5%) obtained a partial regression, 11 patients (39.3%) obtained a disease stabilization and 15 patients (53.7%) progressed. Treatment was well tolerated, with grade III and IV toxicities consisting of leukopenia in six patients (21.4%), thrombocytopenia in one patient (3.5%), and mucositis in one patient (3.5%). Median time to progression and overall survival in the patient population were 5.3 (range: 1-43) and 9.8 months (range: 3-73) respectively. Gemcitabine plus metronomic fluoropyrimidines is a well-tolerated and moderately active regimen in heavily pretreated ACC patients. © 2010 Society for Endocrinology.


Lavalle-Gonzalez F.J.,Autonomous University of Nuevo León | Eliaschewitz F.G.,Hospital Israelita Albert Einstein | Cerdas S.,Hospital Cima | Del Pilar Chacon M.,Endocrinologia | And 2 more authors.
Current Medical Research and Opinion | Year: 2016

Objective:This post hoc analysis evaluated the efficacy and safety of canagliflozin, a sodium glucose co-transporter 2 inhibitor, in patients with type 2 diabetes mellitus (T2DM) from Latin America.Research design and methods:Analyses were performed in subgroups of patients from Latin America based on data from three individual, 26-week, placebo-controlled studies of canagliflozin (monotherapy [n = 116/584], add-on to metformin [n = 199/918], and add-on to metformin plus sulfonylurea [n = 76/469]) and three individual, 52-week, active-controlled studies of canagliflozin (add-on to metformin versus sitagliptin [n = 240/1101], add-on to metformin versus glimepiride [n = 155/1450], and add-on to metformin plus sulfonylurea versus sitagliptin [n = 156/755]).Main outcome measures:Changes from baseline in HbA1c, body weight, and systolic blood pressure (BP) with canagliflozin 100 and 300 mg versus placebo or active comparator (i.e., sitagliptin or glimepiride) were evaluated in the overall study populations and Latin American subgroups. Safety was assessed based on adverse event (AE) reports.Results:Canagliflozin 100 and 300 mg provided reductions in HbA1c, body weight, and systolic BP across studies in patients from Latin America that were generally similar to those seen in the overall populations of patients with T2DM. The AE profile in patients from Latin America was equivalent to that in the overall populations; higher rates of genital mycotic infections and osmotic diuresis-related AEs were seen with canagliflozin versus comparators. Limitations of this study include the post hoc analysis of data and the small sample size of patients from Latin America.Conclusion:Canagliflozin improved glycemic control, reduced body weight and systolic BP, and was generally well tolerated in patients with T2DM from Latin America.Clinical trial registration:NCT01081834; NCT01106677; NCT01106625; NCT00968812; NCT01137812. © 2016 Taylor & Francis.


Alonso G.,Endocrinologia | Varsavsky M.,Hospital Italiano Of Buenos Aires
Endocrinologia y Nutricion | Year: 2015

Endocrine paraneoplastic syndromes are distant manifestations of some tumours. An uncommon but increasingly reported form is tumour-induced osteomalacia, a hypophosphatemic disorder associated to fibroblast growth factor. 23 (FGF-23) secretion by tumours. The main biochemical manifestations of this disorder include hypophosphatemia, inappropriately low or normal tubular reabsorption of phosphate, low serum calcitriol levels, increased serum alkaline phosphatase levels, and elevated or normal serum FGF-23 levels. These tumours, usually small, benign, slow growing and difficult to discover, are mainly localized in soft tissues of the limbs. Histologically, phosphaturic mesenchymal tumours of the mixed connective tissue type are most common. Various imaging techniques have been suggested with variable results. Treatment of choice is total surgical resection of the tumour. Medical treatment includes oral phosphorus and calcitriol supplements, octreotide, cinacalcet, and monoclonal antibodies. © 2015 SEEN.


Cob A.,Endocrinologia
Journal of Medical Case Reports | Year: 2014

Introduction: Anterior hypopituitarism is a common complication of head trauma, with a prevalence of 30% to 70% among long-term survivors. This is a much higher frequency than previously thought and suggests that most cases of post-traumatic hypopituitarism remain undiagnosed and untreated. Symptoms of hypopituitarism are very unspecific and very similar to those in traumatic brain injury patients in general, which makes hypopituitarism difficult to diagnose. The factors that predict the likelihood of developing hypopituitarism following traumatic brain injury remain poorly understood. The incidence of a specific hormone deficiency is variable, with growth hormone deficiency reported in 18% to 23% of cases.Case presentation: A 23-year-old Hispanic man with a 2-year history of hypertension and diabetes presented with severe closed-head trauma producing diffuse axonal injury, subarachnoid hemorrhage and a brain concussion. A computed tomography scan showed a pituitary macroadenoma. The patient has clinical features of acromegaly and gigantism without other pituitary hyperfunctional manifestations or mass effect syndrome. A short-term post-traumatic laboratory test showed high levels of insulin like growth factor 1 and growth hormone, which are compatible with a growth hormone-producing pituitary tumor. At the third month post-trauma, the patient's levels of insulin like growth factor 1 had decreased to low normal levels, with basal low levels of growth hormone. A glucose tolerance test completely suppressed the growth hormone, which confirmed resolution of acromegaly. An insulin tolerance test showed lack of stimulation of growth hormone and cortisol, demonstrating hypopituitarism of both axes.Conclusion: Even though hypopituitarism is a frequent complication of traumatic brain injury, there are no reports in the literature, to the best of my knowledge, of patients with hyperfunctional pituitary adenomas, such as growth hormone-producing adenoma, that resolved after head trauma. A clear protocol has not yet been established to identify which patients should be screened for hypopituitarism. Predictive factors that might determine the likelihood of developing post-traumatic hypopituitarism have not been clearly established, but there is no evidence of the presence of pituitary adenomas as a risk factor in otherwise healthy patients. © 2014 Cob; licensee BioMed Central Ltd.


PubMed | Endocrinologia
Type: | Journal: Journal of medical case reports | Year: 2014

Anterior hypopituitarism is a common complication of head trauma, with a prevalence of 30% to 70% among long-term survivors. This is a much higher frequency than previously thought and suggests that most cases of post-traumatic hypopituitarism remain undiagnosed and untreated. Symptoms of hypopituitarism are very unspecific and very similar to those in traumatic brain injury patients in general, which makes hypopituitarism difficult to diagnose. The factors that predict the likelihood of developing hypopituitarism following traumatic brain injury remain poorly understood. The incidence of a specific hormone deficiency is variable, with growth hormone deficiency reported in 18% to 23% of cases.A 23-year-old Hispanic man with a 2-year history of hypertension and diabetes presented with severe closed-head trauma producing diffuse axonal injury, subarachnoid hemorrhage and a brain concussion. A computed tomography scan showed a pituitary macroadenoma. The patient has clinical features of acromegaly and gigantism without other pituitary hyperfunctional manifestations or mass effect syndrome. A short-term post-traumatic laboratory test showed high levels of insulin like growth factor 1 and growth hormone, which are compatible with a growth hormone-producing pituitary tumor. At the third month post-trauma, the patients levels of insulin like growth factor 1 had decreased to low normal levels, with basal low levels of growth hormone. A glucose tolerance test completely suppressed the growth hormone, which confirmed resolution of acromegaly. An insulin tolerance test showed lack of stimulation of growth hormone and cortisol, demonstrating hypopituitarism of both axes.Even though hypopituitarism is a frequent complication of traumatic brain injury, there are no reports in the literature, to the best of my knowledge, of patients with hyperfunctional pituitary adenomas, such as growth hormone-producing adenoma, that resolved after head trauma. A clear protocol has not yet been established to identify which patients should be screened for hypopituitarism. Predictive factors that might determine the likelihood of developing post-traumatic hypopituitarism have not been clearly established, but there is no evidence of the presence of pituitary adenomas as a risk factor in otherwise healthy patients.


PubMed | Endocrinologia
Type: Journal Article | Journal: Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion | Year: 2016

Endocrine paraneoplastic syndromes are distant manifestations of some tumours. An uncommon but increasingly reported form is tumour-induced osteomalacia, a hypophosphatemic disorder associated to fibroblast growth factor 23 (FGF-23) secretion by tumours. The main biochemical manifestations of this disorder include hypophosphatemia, inappropriately low or normal tubular reabsorption of phosphate, low serum calcitriol levels, increased serum alkaline phosphatase levels, and elevated or normal serum FGF-23 levels. These tumours, usually small, benign, slow growing and difficult to discover, are mainly localized in soft tissues of the limbs. Histologically, phosphaturic mesenchymal tumours of the mixed connective tissue type are most common. Various imaging techniques have been suggested with variable results. Treatment of choice is total surgical resection of the tumour. Medical treatment includes oral phosphorus and calcitriol supplements, octreotide, cinacalcet, and monoclonal antibodies.

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