115 research outputs found
Paragangliomas Pictured
This thesis aims to assess clinical characteristics of paraganglioma (PGLs) patients, with focus on SDH mutation carriers, evaluate psychological aspects in these subjects and to review various treatment options for PGLs.UBL - phd migration 201
TSH-CHECK-1 test: diagnostic accuracy and potential application to initiating treatment for hypothyroidism in patients on anti-tuberculosis drugs.
Thyroid-stimulating hormone (TSH) promotes expression of thyroid hormones which are essential for metabolism, growth, and development. Second-line drugs to treat tuberculosis (TB) can cause hypothyroidism by suppressing thyroid hormone synthesis. Therefore, TSH levels are routinely measured in TB patients receiving second-line drugs, and thyroxin treatment is initiated where indicated. However, standard TSH tests are technically demanding for many low-resource settings where TB is prevalent; a simple and inexpensive test is urgently needed
The value of clinical examination in diagnosing pelvic fractures in blunt trauma patients: a brief review
Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers
Germline mutations in succinate dehydrogenase subunit B and D (SDHB and SDHD) are
predisposed to hereditary paraganglioma (PGL) and pheochromocytoma (PHEO). The phenotype of
pathogenic variants varies according to the causative gene. In this retrospective study, we estimate
the mortality of a nationwide cohort of SDHB variant carriers and that of a large cohort of SDHD
variant carriers and compare it to the mortality of a matched cohort of the general Dutch population.
A total of 192 SDHB variant carriers and 232 SDHD variant carriers were included in this study.
The Standard Mortality Ratio (SMR) for SDHB mutation carriers was 1.89, increasing to 2.88 in carriers
affected by PGL. For SDHD variant carriers the SMR was 0.93 and 1.06 in affected carriers. Compared
to the general population, mortality seems to be increased in SDHB variant carriers, especially in
those affected by PGL. In SDHD variant carriers, the mortality is comparable to that of the general Dutch population, even if they are affected by PGL. This insight emphasizes the significance of
DNA-testing in all PGL and PHEO patients, since different clinical risks may warrant gene-specific
management strategies
Endocrinopatie e obesità: le linee guida della Società Europea di Endocrinologia (ESE) per la diagnosi e il trattamento
Urinary 5-HIAA excretion is not increased in patients with head and neck paragangliomas.
Item does not contain fulltextBackground: Case reports have documented carcinoid-like features in head and neck paragangliomas (HNPGLs), which, in addition to catecholamine storing granules, may also contain granules with serotonin. Serotonin is metabolized to 5-hydroxyindoleacetic acid (5-HIAA). Aim: To assess the urinary excretion rates of 5-HIAA and catecholamines in HNPGL patients.Methods: In 114 consecutive HNPGL patients, normetanephrine, metanephrine, norepinephrine, epinephrine, VMA, dopamine, 3-methoxytyramine and 5-HIAA excretion rates were measured in two 24-hour urinary samples. Increased excretion rates were defined as an increase of the average hormone excretion rate of 2 urine samples above the reference range. In all patients with catecholamine excess, intrathoracic and abdominal paragangliomas were excluded by 123I-MIBG scintigraphy, MRI and/or CT. Genetic screening for mutations in genes of the succinate dehydrogenase (SDH) family was performed. Results: Mean urinary 5-HIAA excretion rate was 14+/-9 mumol/24 hours (reference range 10-44 mumol/24 hours). Urinary 5-HIAA excretion was slightly increased in only 1 patient (48 mumol/24 hours). None of the 50 patients (44%) with increased urinary excretion rates of catecholamines and/or their metabolites had elevated 5-HIAA excretion.Conclusion: Urinary 5-HIAA excretion is within the normal reference range in almost all HNPGL patients. Therefore, this parameter has no clinical relevance in the routine clinical assessment of HNPGL patients
I-MIBG therapy for malignant paraganglioma and phaeochromocytoma: systematic review and meta-analysis
Diabetes mellitus: pathophysiological changes and therap
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