Raynaud’s phenomenon in the endocrinologist’s practice

Raynaud’s phenomenon or syndrome (RS) is an episodic attacks of transient digital ischemia resulting from vasospasm of the digital artery, precapillary arterioles, and skin arteriovenous shunts in response to exposure to cold temperature or emotional stress. Prevalence averages 3–5%. The high prevalence of RS in the population, as well as the frequent association with other, often life-threatening, diseases and conditions, determines its clinical significance. In 80–90% of cases, RS is idiopathic. It is assumed that the spasmodic reactivity of the vessels is caused by a violation of the central and local dysregulation of vascular tone. The most important role is played by vascular endothelial, intravascular and neuronal disorders. In at least 10% of cases, this is a secondary phenomenon. Most often, RS is associated with systemic rheumatic diseases. Along with this, endocrine diseases can develop, including those affected by the pituitary, thyroid and parathyroid glands, adrenal glands, and diabetes mellitus. In some cases, RS may be the only symptom of endocrine pathology. In general, SR is a condition with a favorable outlook and a stable course. The most informative instrumental method for the differential diagnosis of primary and secondary syndrome is the capillaroscopy of the nail bed

Rheumatic manifestations of acromegaly

Acromegaly is a chronic endocrine disease characterized by excessive secretion of growth hormone (GH), which, in turn, leads to increased insulin-like growth factor 1 (IGF-1) secretion by the liver. GH and IGF-1 excess leads to excessive cell and tissue growth, including the osteoarticular apparatus. Joint pain in acromegaly is a frequent and early symptom. In some cases, joint manifestations can be one of the first signs of acromegaly and their intensity increases with duration of the active disease. Estimated prevalence of joint damage signs is around 70% of patients at the time of diagnosis of acromegaly. Musculoskeletal system alterations can manifest either in axial skeleton and peripheral joints. Besides arthropathy, patients with acromegaly (both active and controlled) are more prone to vertebral fractures, although it was previously thought that acromegaly has a low risk of osteoporosis. In this article, we review features of damage to the axial skeleton, peripheral joints in the setting of excessive GH and IGF-1 production, as well as the association of autoimmune rheumatic diseases and acromegaly

The prevalence of hypogonadism in men with type 2 diabetes mellitus in clinical practice

BACKGROUND: Hypogonadism is a common complication in men with type 2 diabetes mellitus (DM), but its prevalence remains unknown. AIMS: To estimate the prevalence of hypogonadism in men with type 2 DM. MATERIALS AND METHODS: Male patients with type 2 DM were enrolled into a single-cohort contemporaneous multicenter non-interventional screening study. The study period was from November 2017 through August 2018. Assessments included total testosterone, luteinizing hormone (LH), sex hormone-binding globulin, HbA1c levels. Levels of free testosterone were calculated by Vermeullen method. RESULTS: TheThe median of age of 400 included men was 56 years [51; 58], total testosterone was 12.3 [9.2; 16.5] nmol/l, free testosterone – 270 [217; 334] pmol/l, HbA1c – 7,1% [6.1; 8.6]. Hypogonadism was found in 135 men (33.7%). The total testosterone level in that group was 7.9 [6.8; 9.8] nmol/l, and free testosterone – 192 [164; 227] pmol/l. In hypogonadism-free men their levels were 15,1 [12,4; 18,6] nmol/l and 311 [270; 364] pmol/l, respectively. In most patients with hypogonadism LH level was low, but within normal ranges, and significantly lower than in men without hypogonadism – 3.2 [2.1; 4.7] IU/L vs 3.8 [2.7; 4.9] IU/L, respectively (p=0.007). Most commonly hypogonadism was with normal LH levels (92,6%, median LH level 3.2 [2.2; 4.3] IU/L, p<0,001). The frequency of hypogonadism with high LH level (10.2 [9.2; 14.7] IU/L) and low LH level (1.0 [0.6; 1.1] IU/L) was 4.4% and 3.0%, respectively. CONCLUSIONS: The prevalence of hypogonadism in men with type 2 DM was found to be 33.7%. Normal levels of LH are typical for this type of patients with hypogonadism

First description of a type v osteogenesis imperfecta clinical case with severe skeletal deformities caused by a mutation p.119C> T in IFITM5 gene in Russia

Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder. Main clinical manifestations include recurring pathological fractures and progressive skeletal deformation. Five types of OI are distinguished based on clinical symptoms. In most cases, the disease is caused by mutations in the COL1A1 and COL1A2 genes, leading to a defect of type 1 collagen synthesis, which is the main component of the bone matrix. Up to 5% of patients with OI have a mutation in IFITM5 gene, which leads to the development of OI type V. Approximately 150 cases of the OI type V are described in the literature, and mutation c.-14C T in IFITM5 gene is found in most of the cases. Only 5 patients have a c.119C T: p.S40L.mutation. Pathogenesis of OI type V is not fully understood. It is assumed that mutations in the IFITM5 gene cause impaired osteoblastogenesis, decreased bone mineral density and multiple low-traumatic fractures. There is probably a phenotype-genotypic correlation in cases with different mutations of the IFITM5. However, it is currently difficult to assess the relationship in view of the variability of the characters and the low prevalence of the OI type V. We present the first description in Russia of the clinical case of an adult patient with OI type V due to a rare mutation p.119C T: p.S40L in the IFITM5 gene

Joint and muscle involvement in primary hyperparathyroidism

In addition to the classical symptoms such as osteoporosis, renal stones and gastric ulcers primary hyperparathyroidism (PHPT) could be presented with non-classical manifestations, including muscle and joint pathology. Moreover, in some cases the articular and neuromuscular impairment might be the main signs of the disease. Despite the long research history the true prevalence of these PHPT complications remains unknown. Discrepancies in studies results may be due the non-specific and different symptoms that patients complain about, various study design, uncorrected comorbid conditions, the different PHPT populations, a wide methods variety in the assessment of neuromuscular and articular involvement. However, the underestimated muscle dysfunction and joint damage can lead to decreased quality of life and disability, primarily from fragility fractures. In the majority of the studies parathyroidectomy improved muscle strength, but there is no clear results for articular manifestations. Basic research and large randomized control trials are limited. The main goal of this review is to summarize currently available data on muscle and joint involvement in patients with PHPT

Diagnostic value of salivary cortisol in 1-mg dexamethasone suppression test

BACKGROUND: Late-night salivary cortisol and serum cortisol measurements after 1-mg Dexamethasone Suppression Test (1-mg DST) are routinely used to diagnose Cushing’s syndrome (CS). Measuring morning salivary instead of serum cortisol after 1-mg DST would make the diagnostics of CS fully non-invasive. AIM: To evaluate the diagnostic accuracy of salivary cortisol in 1-mg DST as measured by electrochemiluminescence assay (ECLIA). MATERIALS AND METHODS: We combined a cohort diagnostic study, including 164 participants (132 females, 32 males) aged from 18 to 77 years: 110 were overweight or obese as increased BMI is the most common sign of Cushing’s Syndrome (CS), and 54 healthy volunteers. In each cohort late-night salivary cortisol was measured (at 23:00) followed by 1-mg DST and blood and salivary sampling for cortisol measurement the next morning at 08:00-09:00. Cortisol in saliva and serum were measured on automatic analyzer Cobas е 601 by F. Hoffmann-La Roche Ltd, using ECLIA. The final diagnosis was confirmed by the histological evaluation after surgery or using a follow-up observation in patients with obesity to exclude Cushing’s syndrome manifestation. RESULTS: Among 110 patients, 54 subjects were finally confirmed as having Cushing's syndrome. Reference interval for salivary cortisol after 1-mg DST was estimated to be 0,5–12,7 nmol/l (5–95 procentile). Maximal salivary cortisol level in 1-mg DST registered in healthy person was 29,6 mmol/l. Areas under the curve (AUC) were as following: for salivary cortisol in 1-mg DST – 0,838 (95% СI 0,772–0,905), for blood cortisol in 1-mg DST – 0,965 (95% CI 0,939–0,992) and for late-night salivary cortisol – 0,925 (95% CI 0,882–0,969). The optimal cut-off point for salivary cortisol after 1-mg DST was estimated as 12.1 nmol/l (sensitivity 60%, specificity 92,9%) among CS versus healthy subjects; 12,6 (sensitivity 58,2%, specificity 96,2%) among patients with obesity and CS; and – 12,2 nmol/l (sensitivity 60,7%, specificity 93,4%) among CS and both obese and healthy control subjects. Considering small difference between cut-off points, the recommended cut-off value for salivary cortisol after 1-mg DST is recommended to be 12,0 nmol/l if measured by ECLIA. CONCLUSION: Although salivary cortisol after 1-mg DST is inferior to serum cortisol after 1-mg DST in the diagnostic performance and diagnostic accuracy, it can be used as a low-invasive screening test with superior specificity

Phenotype Fingerprinting Suggests the Involvement of Single-Genotype Consortia in Degradation of Aromatic Compounds by Rhodopseudomonas palustris

Anaerobic degradation of complex organic compounds by microorganisms is crucial for development of innovative biotechnologies for bioethanol production and for efficient degradation of environmental pollutants. In natural environments, the degradation is usually accomplished by syntrophic consortia comprised of different bacterial species. This strategy allows consortium organisms to reduce efforts required for maintenance of the redox homeostasis at each syntrophic level. Cellular mechanisms that maintain the redox homeostasis during the degradation of aromatic compounds by one organism are not fully understood. Here we present a hypothesis that the metabolically versatile phototrophic bacterium Rhodopseudomonas palustris forms its own syntrophic consortia, when it grows anaerobically on p-coumarate or benzoate as a sole carbon source. We have revealed the consortia from large-scale measurements of mRNA and protein expressions under p-coumarate, benzoate and succinate degrading conditions using a novel computational approach referred as phenotype fingerprinting. In this approach, marker genes for known R. palustris phenotypes are employed to determine the relative expression levels of genes and proteins in aromatics versus non-aromatics degrading condition. Subpopulations of the consortia are inferred from the expression of phenotypes and known metabolic modes of the R. palustris growth. We find that p-coumarate degrading conditions may lead to at least three R. palustris subpopulations utilizing p-coumarate, benzoate, and CO2 and H2. Benzoate degrading conditions may also produce at least three subpopulations utilizing benzoate, CO2 and H2, and N2 and formate. Communication among syntrophs and inter-syntrophic dynamics in each consortium are indicated by up-regulation of transporters and genes involved in the curli formation and chemotaxis. The N2-fixing subpopulation in the benzoate degrading consortium has preferential activation of the vanadium nitrogenase over the molybdenum nitrogenase. This subpopulation in the consortium was confirmed in an independent experiment by consumption of dissolved nitrogen gas under the benzoate degrading conditions

Repetition of the passed or new opportunities? Comments on Duntas L. New aspects of an old dilemma: treatment of hypothyroidism with L-thyroxine combined with L-triiodothyronine

This article is for comments and comprehensive discussion on relatively published review New aspects of an old dilemma: treatment of hypothyroidism with L-thyroxine combined with L-triiodothyronine by L. Duntas

What prevents passing the law about prevention of iodine deficiency disorders in the country with iodine deficiency?

This time, the traditional column “De Gustibus” was prepared by three authors who began writing fragments of this article in late January – early February this year, once again discussing position of various departments and individuals about the development and adoption of the federal law “Prevention of iodine deficiency disorders in Russian Federation”. The fate of this unfortunate and necessary law reveals the shortcomings of education, culture, the level of scientific research, the state of prevention of non-communicable diseases, the social responsibility of business and many other problems that exist in our society. Self-interest and absurdity can become a downfall in which once again this necessary law will disappear