Nighttime salivary cortisol (NSC) has been suggested to be a useful diagnostic test for Cushings syndrome (CS). However, the reference range and cut-off value are assay-specific and discordant. The goal of this study was to assess the analytical performance of automated elecrochemiluminiscence immunoassay method (ECLIA) in CS. Ninety eight healthy volunteers and 123 obese patients including 45 proved to be CS provided salivary samples collected by them at 23:00 using Sallivette. Two hundred and five subjects collected salivary samples for two consecutive days and samples from 197 subjects were frozen to perform Enzyme-linked immunosorbent assay (ELISA). Obese patients underwent the 1-mg overnight dexamethasone suppression test (1-DST). CS was confirmed by the histologic diagnosis after surgical treatment or autopsy. The reference range for healthy volunteer has been set 0,5-9,4 nmol/l. Reproducibility was assessed in all subjects by a day-to-day variability and reflected by an intraclass correlation coefficient of 0,785. The cut-off value of 9,4 nmol/l has been suggested to differentiate CS among obese patients to achieve sensitivity of 84,4% (95%confidence interval 71,2-92,2%); specificity of 92,3% (95%CI 84,2-96,4%) and diagnostic odds ratio 65,1 (95% CI 20,4-207,6). Likelihood ratio positive was 11,0 (95% CI 5,0-23,9), with a likelihood ratio negative of 0,17 (95%CI 0,08-0,33). The comparison of the total areas under the ROC-curve for the measurement of NSC once, twice with mean level by ECLIA, the same samples by ELISA and 1-DST have not shown any statistically significant difference among the tests performance. Conclusion: Based on its remarkable reproducibility, easy noninvasive nature, automated assay and at least similar diagnostic performance, NSC measured by ECLIA on Cobas e601 is a preferable first-line screening test for CS.
Актуальность. В результате эпидемиологических исследований, проведенных в 2007 г., в г. Туринске Свердловской обла-сти была установлена избыточная концентрация йода в моче (медиана -1234 мкг/л) и высокая частота различной тире-оидной патологии у детей. Источником избыточного потребления йода предположительно являлась питьевая вода. Цель. Изучить последствия хронического избыточного потребления йода у населения Туринска. Материал и методы. Исследование проведено в двух городах Свердловской области: Туринске и Первоуральске. В обсле-дование было включено две группы детей: 97 в Первоуральске и 100 в Туринске, которые не различались между собой по возрасту, полу и площади поверхности тела, а также две группы взрослых по 100 человек в каждом городе, которые также были сопоставимы между собой по возрасту и полу. Всем испытуемым проводилось УЗИ щитовидной железы, у всех взрослых проводился забор венозной крови для определения тиреотропного гормона (ТТГ) и антител к тиреопероксида-зе, а у всех детей проводили забор капиллярной крови на фильтровальную бумагу для определения ТТГ и собирали разо-вую порцию мочи для определения концентрации йода. Концентрация йода также была исследована в 10 случайно ото-бранных образцах водопроводной воды, собранных в домохозяйствах Туринска. Результаты. Концентрация йода в водопроводной воде Туринска (629 мкг/л) в 5 раз превосходила предельно допустимую концентрацию. Медианная концентрация йода в моче в Туринске (719 мкг/л) была примерно в 6 раз выше, чем в Первоуральске -120,8 мкг/л. У детей из Туринска были установлены достоверно более высокие средние значения уровня ТТГ и частота диффузного зоба, чем у детей из Первоуральска. У взрослых добровольцев из Туринска по сравнению с испытуемыми из Первоуральска были установлены достоверно более высокие значения среднего уровня ТТГ, а также частоты субклинического гипотиреоза и аутоиммунного тиреоидита. Выводы. Подтвержден негативный эффект хронического избыточного потребления йода на функциональное состояние щитовидной железы и частоту тиреоидной патологии как у детей, так и у взрослых. Клю че вые сло ва: избыток йода, субклинический гипотиреоз, АИТ, диффузный зоб, ТТГ, содержание йода в моче, Туринск.Background. Previous surveys showed chronic iodine excess -median urinary iodine concentration (UIC) over 500 mcg/l -supposedly due to water contamination in population of Turinsk, a town in Sverdlovsk Region of Russia. Aim. Conduct an assessment of the effects of chronic iodine excess on thyroid function and spectrum of thyroid abnormalities in schoolchildren and adults. Materials and methods. Assessment was conducted in 100 schoolchildren and 100 adults residing in Turinsk and 97 schoolchildren and 100 adults in the control site (city of Pervouralsk) with optimal UIC. Assessment included thyroid ultrasonogrpahy, urinary iodine and dry spot TSH in schoolchildren and TSH and TPO-ab in adults. Iodine was also measured in random water samples from 10 households in Turinsk. Results. Median UIC in schoolchildren in Turinsk (719 mcg/l) was significan...
Summary Lamin A/C (LMNA) gene mutations cause a heterogeneous group of progeroid disorders, including Hutchinson–Gilford progeria syndrome, mandibuloacral dysplasia, atypical progeroid syndrome (APS) and generalized lipodystrophy-associated progeroid syndrome (GLPS). All of those syndromes are associated with some progeroid features, lipodystrophy and metabolic complications but vary differently depending on a particular mutation and even patients carrying the same gene variant are known to have clinical heterogeneity. We report a new 30-year-old female patient from Russia with an APS and generalized lipodystrophy (GL) due to the heterozygous de novo LMNA p.E262K mutation and compare her clinical and metabolic features to those of other described patients with APS. Despite many health issues, short stature, skeletal problems, GL and late diagnosis of APS, our patient seems to be relatively metabolically healthy for her age when compared to previously described patients with APS. Learning points Atypical progeroid syndromes (APS) are rare and heterogenic with different age of onset and degree of metabolic disorders, which makes this diagnosis very challenging for clinicians and may be missed until the adulthood. The clinical picture of the APS depends on a particular mutation in the LMNA gene, but may vary even between the patients with the same mutation. The APS due to a heterozygous LMNA p.E262K mutation, which we report in this patient, seems to have association with the generalized lipodystrophy, short stature and osteoporosis, but otherwise, it seems to cause relatively mild metabolic complications by the age of 30. The patients with APS and lipodystrophy syndromes require a personalized and multidisciplinary approach, and so they should be referred to highly specialized reference-centres for diagnostics and treatment as early as possible. Because of the high heterogeneity of such a rare disease as APS, every patient’s description is noteworthy for a better understanding of this challenging syndrome, including the analysis of genotype-phenotype correlations.
In this review we highlight the pathogenesis of vitamin D deficiency, the development of secondary hyperparathyroidism in obesity and after malabsorptive bariatric surgery. We also discuss vitamin D supplementation and calcium metabolism disorders correction in obesity as well as after previous malabsorptive bariatric surgery
The steadily growing interest in studying of endocrine genetics is driven not only by the search for new pathologies but also by the most pressing need to develop methods for early diagnosis, treatment and management of patients. Though 20% of all the patients with von Hippel-Lindau syndrome do not have a family history of the disease; a genetic basis is a natural characteristic of the disease and determinates a phenotype. Despite the nonaggressive course, in general, a relative unpredictability of the syndrome signs onset and the lack of regular monitoring can increase the risk of surgery complications and cause a disability at a young age. The presented clinical case shows the need for a multidisciplinary approach to management of the patients with von Hippel-Lindau syndrome.
Клинические рекомендации обсуждают современные подходы к диагностике и лечению заболеваний, протекающих с тиреотоксикозом. Клю че вые сло ва: щитовидная железа, гипертиреоз, болезнь Грейвса, многоузловой токсический зоб. Clinical practice recommendations are dedicated to the management of patients with Graves' disease and multinodular toxic goiter.
Von Hippel-Lindau syndrome - a systemic disease manifesting with multiple tumor growth, inherited by autosomal-dominant type with high penetrance. Understanding the pathogenesis of the disease is important for determining the start time of screening for the presence of the tumors and adequate treatment, including metabolic disorders.
Acute and chronic thyroid diseases are the most frequently detected disorders being second only to diabetes mellitus.The World Health Organization points out that thyroid diseases’ incidence tends to grow every year. The present paper consists of clinical practice guidelines that consider etiology, clinical course, diagnostics and treatment of acute and chronic inflammatory thyroid diseases (except those of autoimmune type).The clinical practice guidelines provide an important working tool for clinicians including specialty physicians and medical experts. Containing structured and concise information on the specific nosology, diagnostic methods and treatment tips these guidelines allow medical specialists to quickly resolve difficulties and choose the most efficient and personalized treatment (following strict principles of evidence-based medicine at the same time).The clinical practice guidelines were drawn up by highly-skilled professional team of specialty physicians approved by the Expert Council of Russian Federation’s Health Department. These guidelines contain the most complete and up-to-date information required to diagnose acute and chronic thyroiditis, provide patient care and treatment.The working group publishes the present paper in the professional journal dealing with endocrinology topics to improve healthcare quality and refine treatment of acute and chronic thyroiditis (autoimmune thyroiditis excluded). It is advisable to acquaint as many endocrinology and general (family) medicine specialists as possible with the full text of these clinical guidelines.
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