GLORIA

GEOMAR Library Ocean Research Information Access

X

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Online Resource
    Online Resource
    Fig. 2. Genealogical tree of the proband family.
    Endocrinology Research Centre ; 2018
    In:  Diabetes mellitus Vol. 21, No. 1 ( 2018-03-27), p. 42-47
    Details
    In: Diabetes mellitus, Endocrinology Research Centre, Vol. 21, No. 1 ( 2018-03-27), p. 42-47
    Abstract: Wolcott-Rallison syndrome is a rare autosomal recessive disease characterized by neonatal diabetes mellitus in combination with osteodysplasia and liver failure. This disease is the most common cause of neonatal diabetes mellitus in consanguineous families. Wolcott-Rallison syndrome is associated with mutations in the EIF2AK3, the gene encoding a transmembrane enzyme PERK (pancreatic endoplasmic reticulum kinase) which inhibits the synthesis of proteins in the event of misfolding in the endoplasmic reticulum. In addition to the core symptoms patients may develop multisystemic clinical manifestation including acute renal and liver failure, short stature, exocrine pancreatic insufficiency, neuro-motor deficit, hypothyroidism, anemia, neutropenia, recurrent hypoglycemia. The disease is characterized by high mortality, more than 50% of patients die from fulminant liver failure. The awareness of Wolcott-Rallison syndrome is extremely low due to the rarity of detection, however in view of the severity of the disease and the unfavorable prognosis patients with this syndrome require timely diagnosis and care of well-organized team of specialists.
    Type of Medium: Online Resource
    ISSN: 2072-0378 , 2072-0351
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    DOI: 10.14341/DM8770
    DOI: 10.14341/DM8770-1640
    DOI: 10.14341/DM8770-1641
    DOI: 10.14341/DM8770-1642
    DOI: 10.14341/DM8770-1844
    DOI: 10.14341/DM8770-2528
    DOI: 10.14341/DM8770-2529
    Language: Unknown
    Publisher: Endocrinology Research Centre
    Publication Date: 2018
    detail.hit.zdb_id: 2820710-5
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 2
    Online Resource
    Online Resource
    Сопроводительное письмо
    Endocrinology Research Centre ; 2020
    In:  Problems of Endocrinology Vol. 66, No. 3 ( 2020-09-16), p. 81-87
    Details
    In: Problems of Endocrinology, Endocrinology Research Centre, Vol. 66, No. 3 ( 2020-09-16), p. 81-87
    Abstract: BACKGROUND: Congenital hyperinsulinism (CHI) is a severe disease with a high risk of development of neurological complications due to persistent hypoglycemia. The use of an analog of somatostatin (octreotide) in patients with the resistance to the first-line drug allows to avoid surgical intervention. However, the octreotide is currently used in the form of frequent fractional injections due to the short duration of its effect. We present in this article our own experience of using octreotide in continuous subcutaneous infusion in pediatric patients in order to improve the quality of life. AIM To evaluate the efficiency and safety of the regime of continuous subcutaneous infusion of octreotide with the use of micro-dispensers (pumps) in children with diazoxide-resistant course of CHI. MATERIALS AND METHODS: An observational single-centre dynamic research was carried out on the basis of the Federal State Budgetary Institution Endocrinology Research Centre of the Ministry of Health of the Russian Federation. The study included pediatric patients with CHI and proven diazoxide-resistant course who were initially treated with octreotide in the form of intermittent subcutaneous injections. The researches compared the indicants of efficiency and safety of therapy on treatment of intermittent injections and after transfer to continuous subcutaneous infusion of the drug. The duration of each method of administration was at least 2 weeks. RESULTS: 16 patients took part in the research. The median for the total duration of octreotide usage in the examined patients was 3 months. According to the results of the work, the use of micro-dispensers for continuous subcutaneous administration of octreotide allowed to reduce the number of patients with episodes of hypoglycemia for more than 4 times (13/16 vs. 3/16); p=0,001). Also, there was a significant decrease in the number of patients with hyperglycemic episodes (4/16 vs. 0/16); p=0.000) and reduced dose of intravenous glucose (6.8 vs 5.2 mg/kg/min; p=0.042) as a result of continuous therapy, which indicates the advantages of smooth continuous administration comparing to single injections. We have not detected any significant side effects of the treatment. Elevated liver enzyme levels, dyspeptic symptoms and gallstone formation in some patients did not require cancellation of therapy. There were no hormonal disorders in the form of hypothyroidism and somatotropic hormone deficiency against the background of continuous octreotide infusion. CONCLUSIONS: Thus, the use of octreotide in patients with diazoxide-resistant course of СHI in continuous subcutaneous infusion using pumps has a number of advantages over the standard method of intermittent subcutaneous injection. This method of administration allows to achieve better glycemic control and reduce the risks from infusion therapy with highly concentrated glucose solutions, which undoubtedly improves the quality of life of patients.
    Type of Medium: Online Resource
    ISSN: 2308-1430 , 0375-9660
    URL: Issue
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    DOI: 10.14341/probl.2020663
    DOI: 10.14341/probl12421
    DOI: 10.14341/probl12421-5246
    DOI: 10.14341/probl12421-5247
    DOI: 10.14341/probl12421-5288
    Language: Unknown
    Publisher: Endocrinology Research Centre
    Publication Date: 2020
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 3
    Online Resource
    Online Resource
    Сопроводительное письмо 1
    Endocrinology Research Centre ; 2018
    In:  Problems of Endocrinology Vol. 64, No. 5 ( 2018-12-29), p. 306-311
    Details
    In: Problems of Endocrinology, Endocrinology Research Centre, Vol. 64, No. 5 ( 2018-12-29), p. 306-311
    Abstract: Congenital hyperinsulinism (CHI) is caused by insulin hyperproduction by β-pancreatic cells. CHI is associated with high risk of complications of chronic hypoglycemia, and therefore timely diagnosis of the disease and immediate initiation of therapy is a top-priority task. The choice of treatment tactics largely depends on the morphological form of the disease. Morphological form cannot be established based on clinical and laboratory presentation of the disease, ultrasound, MRI, computed and positron emission tomography (PET) with [18F]-fluorodeoxyglucose. Calcium stimulation test and percutaneous transhepatic blood sampling from the portal vein were previously used for differential diagnosis, but the results provided by these invasive studies are imprecise. At present, preoperative differential diagnosis of diffuse and focal forms of CHI is based on the data of genetic testing and radionuclide diagnosis ([18F] -DOPA PET). The article presents the first results of the use of [18F]-DOPA PET in CHI patients in the Russian Federation. Radionuclide study was performed in 17 patients with pharmacoresistant CHI followed by comparative analysis of the results of 18F-FDG PET/CT and histological picture of intraoperative pancreatic tissue samples, which is known as the gold standard for the differential diagnosis of HI histological forms.
    Type of Medium: Online Resource
    ISSN: 2308-1430 , 0375-9660
    URL: Issue
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    DOI: 10.14341/probl2018645
    DOI: 10.14341/probl9726
    DOI: 10.14341/probl9726-2820
    DOI: 10.14341/probl9726-2821
    DOI: 10.14341/probl9726-2822
    Language: Unknown
    Publisher: Endocrinology Research Centre
    Publication Date: 2018
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 4
    Online Resource
    Online Resource
    сопроводительное письмо
    Endocrinology Research Centre ; 2020
    In:  Problems of Endocrinology Vol. 66, No. 3 ( 2020-09-16), p. 6-14
    Details
    In: Problems of Endocrinology, Endocrinology Research Centre, Vol. 66, No. 3 ( 2020-09-16), p. 6-14
    Abstract: Cardiovascular diseases remain the leading cause of death all over the world. Thyroid hormones play a significant role in the regulation of cardiac function. According to a number of researches, patients with cardiovascular diseases usually have a decrease in the concentration of thyroid hormones in the blood serum, which may be associated with a poor prognosis. Today it still remains unclear whether the change in the bioavailability of thyroid hormones in the myocardium is a favorable physiological mechanism or a replication of an adaptation disorder. Experimental researches suggest that thyroid hormone therapy may be applied in clinical cardiology. This review describes the results of researches examining the use of thyroid hormones in patients with cardiovascular diseases, as well as experiment data on animal models. The available data on the use of thyroid hormones in patients with acute myocardial infarction and heart failure allow us to suggest that normalization of thyroid hormone levels is a safe and potentially effective treatment method in the group of patients with cardiovascular disease. At the same time, the data on the use of thyroid hormones in patients who have undergone an open-heart surgery or heart transplantation are limited. However, at present, it is difficult to draw unambiguous conclusions about the benefits, as well as about the possible risk of using thyroid hormones in the described conditions. Large-scale clinical researches are required to confirm the safety and evaluate the effectiveness of such therapy. Moreover, it is necessary to set parameters for evaluating the safety and effectiveness and understand which hormone (thyroxine or triiodothyronine), what dosage and at what stage of the disease should be applied. Until we do not have answers for these questions, thyroid hormone therapy in patients with cardiovascular diseases should remain within the research field.
    Type of Medium: Online Resource
    ISSN: 2308-1430 , 0375-9660
    URL: Issue
    URL: Article
    URL: Article
    URL: Article
    DOI: 10.14341/probl.2020663
    DOI: 10.14341/probl12471
    DOI: 10.14341/probl12471-5373
    DOI: 10.14341/probl12471-5380
    Language: Unknown
    Publisher: Endocrinology Research Centre
    Publication Date: 2020
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 5
    Online Resource
    Online Resource
    Рис. 4 (сборный)
    Endocrinology Research Centre ; 2019
    In:  Problems of Endocrinology Vol. 65, No. 5 ( 2019-11-23), p. 319-329
    Details
    In: Problems of Endocrinology, Endocrinology Research Centre, Vol. 65, No. 5 ( 2019-11-23), p. 319-329
    Abstract: BACKGROUND: Congenital hyperinsulinism (CHI) is a severe disease with a high risk of complications including neurological deficit. Persistent hypoglycemia in patients with focal form of CHI can not be managed with medical treatment in 96.4% of cases, what subsequently leads to surgical treatment. Currently, there is a lack of information regarding patients with focal form of CHI. This study is aimed at finding better approaches for diagnosis and treatment of patients with focal form of CHI. AIMS: To study clinical, genetic and PET/CT findings of the focal form of CHI in Russian group of patients. MATERIALS AND METHODS: The observational research included all patients with a histologically confirmed focal form of CHI, who were admitted to Endocrinology Research Centre during the period from January 2008 to January 2019. A statistical analysis of clinical data, genotype, and positron emission tomography (PET) with 18F-dihydroxyphenylalanine (18F-DOPA) was performed. The median follow-up was 18 months. RESULTS: The study included 31 patients with focal CHI (14 boys, 45.2%). All patients had a neonatal presentation of the disease and demanded high levels of continuous glucose infusion to maintain euglycemia. The difference between the age of hypoglycemia presentation and the age of diagnosis ranged from 1 day to 3.9 months. In all cases, diazoxide was found to be ineffective. However, in 9 patients, it was possible to withdraw continuous glucose infusion and maintain euglycemia using octreotide in the preoperative period. A molecular genetic study allowed us to detect diverse pathogenic variants in ABCC8 and KCNJ11 genes in 30 patients. According to PET data with 18F-DOPA, the pancreatic index (PI) varied widely from 1.16 to 3.59. After partial resection of the pancreatic region with insulin hypersecretion, all patients showed complete recovery. CONCLUSIONS: The focal form of CHI is a severe condition with high prevalence of neurological complications. For preoperative diagnosis of the morphological form of the disease, it is necessary to conduct genetic analysis and radionuclide studies. Solely evaluation of mathematical parameters in 18F-DOPA PET without taking into account the visual data and the results of genetic analysis does not allow establishing the robust diagnosis. Timely diagnosis, identification of risk factors, and prevention of complications of persistent hypoglycemia are important tasks for clinicians.
    Type of Medium: Online Resource
    ISSN: 2308-1430 , 0375-9660
    URL: Issue
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    DOI: 10.14341/probl.2019655
    DOI: 10.14341/probl10317
    DOI: 10.14341/probl10317-4287
    DOI: 10.14341/probl10317-4399
    DOI: 10.14341/probl10317-4400
    DOI: 10.14341/probl10317-4401
    DOI: 10.14341/probl10317-4402
    DOI: 10.14341/probl10317-4403
    DOI: 10.14341/probl10317-4404
    DOI: 10.14341/probl10317-4405
    DOI: 10.14341/probl10317-4406
    DOI: 10.14341/probl10317-4407
    DOI: 10.14341/probl10317-4408
    DOI: 10.14341/probl10317-4766
    DOI: 10.14341/probl10317-4767
    Language: Unknown
    Publisher: Endocrinology Research Centre
    Publication Date: 2019
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...