Physiological and biochemical parameters of drought tolerance of some genotypes of garden roses

To identify drought resistance of the studied genotypes of garden roses during the period of maximum probability of drought on the Southern Coast of the Crimea, the water regime, proline concentration, enzyme activity and chlorophyll fluorescence induction parameters under controlled dehydration were studied. Analysis of water regime parameters showed that under conditions of water stress, the best water-holding and recovery capabilities were shown by leaves of cv. ‘Borisfen’ and R. hugonis species. Species R. indica, R. bracteata, R. rouletti, R. foetida showed instability of water regime under conditions imitating dry weather. Studies of changes in biochemical parameters revealed that under relatively mild wilting conditions after removal of stress, metabolic processes are restored in R. hugonis, R. bracteata, R. indica and cv. ‘Borisfen’. Wilting under conditions imitating dry weather does not cause irreversible metabolic disturbances in R. hugonis, R. bracteata, and cv. ‘Borisfen’. Under different wilting conditions, cv. ‘Borisfen’and R. foetida species had relatively stable functioning of FS II. Simulation of dry weather led to irreversible disturbances in the oxygen-releasing complex and thylakoid destruction in R. gallica during the stressor, and in R. indica and R. bracteata species - after recovery of water availability. The highest drought tolerance is in in cv. ‘Borisfen’and R. hugonis sprcies

Case report of Sagliker syndrome in a young patient with secondary hyperparathyroidism and chronic renal failure

Sagliker syndrome is a rare complication of renal osteodystrophy, characterized by severe skeletal and cranium deformities, neurologic and soft tissue abnormalities in patients with chronic renal failure (CRF) and untreated secondary hyperparathyroidism. This article reports a 29-year-old female patient with end-stage CRF after 9 years of hemodialysis. She had severe secondary hyperparathyroidism, hyperplasia of three parathyroid glands and cranium and skeletal bone structure deformation. The first changes appeared after 4 years of therapy with peritoneal dialysis. They included uglifying face appearances, short stature, severe maxillary changes, chest deformity. During the examination we revealed severe tomographical and X-ray changes: maxillary and mandibular hyperplasia, temporomandibular articulation changes, affected cheekbones, sphenoid bone and bones of the cranial vault, fingertip changes, vertebral body compression. Although surgical parathyroidectomy was effective at biochemical abnormalities, severe bone deformities were not regressed. This case highlights the importance of clinicians attention for early monitoring and appropriate treatment of secondary hyperparathyroidism in patients with end-stage CRF

Osteogenesis imperfecta as a cause of death

Osteogenesis imperfecta (OI) is a rare heterozygous connective tissue disordercaused by mutations in genes that affect collagen components (in most cases mutations in COL1A1 и COL1A2 genes). The current classification system includes 15 types of OI, one of which (type II) is characterized by 100% intrauterine or perinatal mortality. The structure of mortality in other OI types is poorly understood because of the heterogeneity of clinical symptoms and the severity of connective tissue damage. W present a clinical case of type III osteogenesis imperfecta, complicated by generalized osteoporosis with multiple fractures of vertebrae and tubular bones and progressive kyphoscoliosis. Late-initiated treatment led to progression of the disease and led to cardiopulmonary insufficiency and death of the patient. Our clinical case highlights the importance of timely diagnosis, treatment and regular observation in patients with OI

Treatment of severe idiopathic hypoparathyroidism: a case report

Hypoparathyroidism is a rare disorder characterized by parathyroid hormone (PTH) insufficiency, the development of hypocalcemia and alteration of bone tissue remodeling. The goal of treatment is to normalize the indicators of calcium-phosphorus metabolism and leveling of clinical manifestations. Standard treatment of hypoparathyroidism consists of oral calcium and active forms of vitamin D, in doses necessary to maintain calcium levels at the lower limit of the reference interval. Nevertheless, treatment of the disease exerts certain difficulties in clinical practice. At the same time, compensation of the hypoparathyroidism is necessary to prevent ectopic calcification. Daily subcutaneous delivery of PTH (184) and PTH (134) has emerged as a promising therapeutic tool. However, its use should be restricted to patients insufficiently controlled with the standard treatment with active vitamin D and calcium. We present a clinical case of idiopathic hypoparathyroidism with severe clinical presentation of hypocalcaemia and ectopic calcification. Idiopathic hypoparathyroidism is a consequence of autoimmune destruction of the parathyroid glands and is exhibited by excluding all known causes of hypoparathyroidism. PTH (134) treatment allowed reducing the dose of calcium and vitamin D and achieving compensation of the disease

Sclerostin antibodies as novel anabolic therapy for osteoporosis

Osteoporosis medications are dividedinto two groups: those inhibiting bone resorption and formation (bisphosphonates and denosumab), and those stimulating bone formation i.e. having an anabolic effect. The latter include teriparatide, parathyroid hormone 1-84 and abaloparatide, all of which stimulate bone resorption as well as bone formation, which limits their anabolic effect. The discovery of sclerostin the key inhibitor of bone formation has led to development of the concept that inhibition of this protein could stimulate bone formation. Romosozumab is a human monoclonal antibody to sclerostin that binds to sclerostin and enables Wnt-signaling pathway ligands and their co-receptors to interact with each other, which, in turn, leads to increased bone formation and bone mineral density. Unlike classical anabolic drugs in osteoporosis treatment, romosozumab stimulates bone formation and inhibits bone resorption. In clinical trials, romosozumab showed marked increase in lumbar spine and hip bone mineral density. Presented article contains information about pre-clinical and clinical studies of romosozumab

Deontological Approach to the Development of Professionally-Communicative Culture Education Managers on Upgrading Courses

Nowadays in the Russian society there made high demands on the level of professional-ethic communicative culture of education managers. Meanwhile the subject concerning the development of education managers communicative culture within refresher courses on basis of pedagogical deontology is not studied enough. This article analyses the essence, structure and revealing levels deontological communicative culture of education managers. The article discusses the results of the diagnostics of personal characteristics of managers in education that affect the manifestation of professional ethic communicative culture of heads of educational institutions. The material illuminates the outcome of long-term work of the authors as teachers of refresher courses for education managers. DOI: 10.5901/mjss.2015.v6n4s1p29

Rare genetic diseases of the bone tissue: the case of a family with osteogenesis imperfecta and X-linked hypophosphataemia

Osteogenesis imperfecta (OI) and X-linked hypophosphataemia (XLH) are rare genetic diseases, which lead to childhood-onset bone fragility, low-trauma fractures and limb deformities. OI occurs as a result of impaired type 1 collagen synthesis at different stages, depending on the type of a genetic mutation, which leads to bone strength impairment. In most cases OI is a disorder with an autosomal dominant inheritance. However, there are also cases of autosomal recessive inheritance. To date, 16 types of OI are distinguished, with type 2 being the most severe due to 100% mortality rate in neonatal and perinatal periods. XLH is characterized by altered bone mineralization due to impaired phosphorus absorption and reabsorption, as a result of mutations in the PHEX gene. The bone tissue softens, and this process is accompanied by deformities in long tubular bones. In this article we describe the family, in which both diseases are presented, despite their rarity. The case is investigated from points of view: the clinicians and the patients perspective

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

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