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1.
J Med Case Rep ; 17(1): 234, 2023 Jun 08.
Artículo en Inglés | MEDLINE | ID: mdl-37287034

RESUMEN

BACKGROUND: Paragangliomas are rare neuroendocrine tumors. While paragangliomas of the spine are rare, those located in non-cauda equina areas with spinal canal extension are even rarer. CASE PRESENTATION: We present a case of a 23-year-old female of African descent with a primary thoracic paraganglioma with intervertebral extension resulting in displacement and compression of the spinal cord and extensive local invasion of the surrounding structures. This paraganglioma was functional with typical symptoms of catecholamine excess. Despite the aggressive nature of the paraganglioma, the patient only had isolated sensory symptoms in the left shoulder. Adequate alpha and beta-blockade were instituted prior to her undergoing surgery with near-total resection and complete preserved neurology. There was no underlying pathogenic genetic mutation found. CONCLUSIONS: Even though rare, paraganglioma should be considered in the differential diagnosis of spinal tumors. Genetic testing should be performed in patients with paragangliomas. One should exercise extreme caution in treating such rare tumors that may cause neurological deficits and careful surgical planning should be undertaken to avoid possible catastrophic complications.


Asunto(s)
Tumores Neuroendocrinos , Paraganglioma , Neoplasias de la Médula Espinal , Neoplasias de la Columna Vertebral , Femenino , Humanos , Adulto Joven , Adulto , Paraganglioma/diagnóstico , Paraganglioma/cirugía , Paraganglioma/patología , Tumores Neuroendocrinos/patología , Neoplasias de la Médula Espinal/diagnóstico , Neoplasias de la Médula Espinal/cirugía , Neoplasias de la Columna Vertebral/diagnóstico por imagen , Neoplasias de la Columna Vertebral/cirugía , Neoplasias de la Columna Vertebral/patología , Catecolaminas
2.
Case Rep Endocrinol ; 2021: 5593920, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34258082

RESUMEN

Paraneoplastic or ectopic Cushing's syndrome (CS) is a rare cause of endogenous hypercortisolism. It is due to ectopic adrenocorticotropic hormone (ACTH) secretion and has been reported in association with a variety of neuroendocrine tumors such as small-cell lung carcinoma, carcinoid tumors, and medullary carcinoma of the thyroid. Paragangliomas (PGLs) are rare neuroendocrine tumors that can secrete catecholamines. Case reports and reports of ectopic ACTH secretion from metastatic PGLs causing CS are exceedingly rare. We present a case of a 38-year-old female, who presented with typical signs, symptoms, and complications of CS, secondary to a PGL with widespread metastases, which eventually led to her demise.

3.
Bratisl Lek Listy ; 119(7): 454-457, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30160137

RESUMEN

AIMS: Psoriasis is a common chronic inflammatory disease. A disintegrin and metalloproteinase 33 (ADAM33) gene is the first novel susceptibility gene for asthma. The aim of this study was to investigate the relationship of ADAM 33 gene V4 C/G rs2787094 polymorphism with the risk of psoriasis in the Turkish population. METHODS: ADAM33 gene polymorphism (V4 C/G rs2787094) was analyzed in 97 psoriasis patients and 50 healthy control subjects. This study was performed by polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) analysis. RESULTS: There was no significant difference in ADAM33 genotype and allele distributions between psoriasis and control groups (p > 0.05). CONCLUSIONS: ADAM33 V4 C/G rs2787094 polymorphism was not associated with psoriasis risk in the Turkish population. Larger studies with different ethnicities are needed to determine the impact of ADAM33 polymorphism on the risk of developing psoriasis (Tab. 3, Fig. 1, Ref. 16).


Asunto(s)
Proteínas ADAM/genética , Alelos , Predisposición Genética a la Enfermedad/genética , Polimorfismo de Longitud del Fragmento de Restricción/genética , Psoriasis/genética , Adulto , Estudios de Casos y Controles , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo , Turquía
4.
S Afr Med J ; 106(9): 918-28, 2016 Aug 05.
Artículo en Inglés | MEDLINE | ID: mdl-27601120

RESUMEN

BACKGROUND: Diabetes mellitus (DM) is a chronic metabolic disease that potentially causes debilitating and life-threatening complications, demands a lifestyle change, and has important implications with regard to wellbeing and health-related quality of life (HRQOL). OBJECTIVES: To: (i) determine the HRQOL of a sample of patients with type 2 diabetes; (ii) describe the demographics (age, gender, and smoking and alcohol use) of the population studied; (iii) document the following parameters, which are important in determining the control and severity of type 2 diabetes: (a) glycosylated haemoglobin (HbA1C), (b) total amount of insulin required per day (if on insulin therapy), (c) body mass index (BMI), and (d) exercise compliance; (iv) determine whether there was an association between any or all of the above parameters and the HRQOL of these patients; and (v) determine whether coexisting diseases (hypertension (HT) and dyslipidaemia) were present, and compare HRQOL between diabetic patients with and without these diseases. METHODS: This was a cross-sectional and descriptive study of 200 patients attending the diabetes clinic at Helen Joseph Hospital, Johannesburg, South Africa. HRQOL assessments were made using the Diabetes 39 (D-39) questionnaire, which patients filled in once consent had been obtained and if they fulfilled the inclusion criteria. Patients' questionnaire forms were then analysed with regard to their demographics (age and gender), exercise regimen, smoking and alcohol history, employment status, living arrangements, age of diagnosis of DM, and concurrent use of antihypertensive and cholesterol-lowering drugs. The patients' files were analysed and various clinical parameters were noted (HbA1C, lipogram, BMI, number of insulin units used per day, and whether any antihypertensive and/or lipid-lowering drugs were used). RESULTS: There was an association between HRQOL and HbA1C, and between HRQOL and HT and dyslipidaemia. CONCLUSIONS: No association was found between HRQOL and other clinical parameters, namely number of insulin units used per day, exercise, BMI, lipogram and the use of oral hypoglycaemic agents. Demographic parameters (age, gender, age at diagnosis, employment status and living arrangements) were also shown to have no impact on HRQOL. We found no association between HRQOL in patients who consumed alcohol and smoked cigarettes and in those who did not.

5.
Bratisl Lek Listy ; 117(2): 100-5, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-26830041

RESUMEN

BACKGROUND: To examine the effects of adropin on glucose and lipid metabolism in a rat model of Type 2 diabetes mellitus (T2DM). METHODS: T2DM were established using high-fat diet and streptozocin (STZ; 35 mg/kg/b.w.). Seven days after STZ induction, diabetic rats were randomly treated with adropin (2.1 µg/kg/day intraperitonealy) for 10 days. The study involved the evaluation of biochemical parameters, including blood glucose, total cholesterol (TC), triglycerides (TG), low-density lipoprotein-cholesterol (LDL-C), high-density lipoprotein-cholesterol (HDL-C), aspartate transaminase (AST), alanine transaminase (ALT), alkaline phosphatase (ALP) and gamma glutamyl transferase (GGT) activities. Additionally, Tumor necrosis factor-alpha (TNF-α), interleukin 6 (IL-6) and inducible nitric oxide synthase (iNOS) mRNA gene expressions in pancreas tissue were determined by reverse transcription-polymerase chain reaction. RESULTS: The serum levels of insulin and adropin were determined by ELISA. Treatment with adropin showed a significant reduction in blood glucose levels, HbA1c (%), HOMA-IR and increase in HOMA-ß, serum insulin levels. In addition, intraperitoneal adropin application can reduce serum levels of TC, TG, LDL-C, and increase level of HDL-C. Adropin also effectively ameliorated the alterations in TNF-α, IL-6 and iNOS mRNA expression. CONCLUSION: The present study indicates that the adropin possesses antidiabetic and antidyslipidemic effects in T2DM (Tab. 2, Fig. 3, Ref. 32).


Asunto(s)
Proteínas Sanguíneas , Colesterol/sangre , Diabetes Mellitus Experimental , Diabetes Mellitus Tipo 2 , Péptidos , Alanina Transaminasa/sangre , Alanina Transaminasa/metabolismo , Animales , Aspartato Aminotransferasas/sangre , Glucemia/análisis , Proteínas Sanguíneas/farmacología , Diabetes Mellitus Experimental/tratamiento farmacológico , Diabetes Mellitus Experimental/metabolismo , Diabetes Mellitus Tipo 2/tratamiento farmacológico , Diabetes Mellitus Tipo 2/metabolismo , Hipoglucemiantes/sangre , Hipoglucemiantes/farmacología , Hipolipemiantes/sangre , Hipolipemiantes/farmacología , Inyecciones Intraperitoneales , Insulina/sangre , Lipoproteínas/sangre , Masculino , Páncreas/patología , Péptidos/sangre , Péptidos/farmacología , Ratas , Triglicéridos/sangre , Factor de Necrosis Tumoral alfa/sangre
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