scholarly journals MODY in Siberia – molecular genetics and clinical characteristics

2017 ◽  
Vol 20 (1) ◽  
pp. 5-12
Author(s):  
Alla Konstantinovna Ovsyannikova ◽  
Oksana Dmitrievna Rymar ◽  
Elena Vladimirovna Shakhtshneider ◽  
Elena Nikolaevna Voropaeva ◽  
Dinara Evgenevna Ivanoshchuk ◽  
...  
Keyword(s):  
Carbohydrate Metabolism ◽  
Molecular Genetics ◽  
Clinical Characteristics ◽  
Early Stage ◽  
Molecular Genetic ◽  
Young Patients ◽  
Clinical Manifestations ◽  
Treatment Strategies ◽  
Oral Hypoglycaemic Agents ◽  
Monogenic Forms Of Diabetes

The diagnosis of maturity onset diabetes of the young (MODY) has high clinical significance in young patients (no absolute need for exogenous insulin; normoglycaemia in most patients achieved by dieting or taking oral hypoglycaemic agents) and their relatives (high probability of first-degree relatives being carriers of mutations, which requires a thorough collection of family history and determination of the parameters of carbohydrate metabolism). Aim. This study aimed was to determine the clinical characteristics of different subtypes of MODY in a Siberian region. Materials and Methods. We performed an examination, biochemical and hormonal blood tests, ultrasound and molecular genetic testing of 20 patients with a clinical diagnosis of MODY. Results. Four subtypes of MODY were verified: MODY2 in 11 patients, MODY3 in two, MODY8 in one and MODY12 in two. Eleven patients (69%) exhibited no clinical manifestations of carbohydrate metabolism disorders, and one patient showed weight loss during early stage of the disease. Comorbidities included dyslipidemia, thyroid gland disorders and arterial hypertension. One patient (6%) exhibited diabetic nephropathy; two (13%), diabetic retinopathy and three (19%), peripheral neuropathy of lower legs. All patients achieved the target carbohydrate metabolism; the level of C-peptide was within the reference range. Conclusion. Four different subtypes of MODY (2, 3, 8, 12) were diagnosed in the present study, which differed in their clinical characteristics, presence of complications and treatment strategies. Our knowledge of monogenic forms of diabetes is expanding with the development in molecular genetics, but several aspects related to them require further study.

scholarly journals GCK-MODY diabetes course in persons over 18 years of age: prospective observation

2021 ◽  
Vol 24 (2) ◽  
pp. 133-140
Author(s):  
A. K. Ovsyannikova ◽  
E. V. Shakhtshneider ◽  
D. E. Ivanoshchuk ◽  
M. I. Voevoda ◽  
O. D. Rymar
Keyword(s):  
Carbohydrate Metabolism ◽  
Molecular Genetic ◽  
Young Patients ◽  
Clinical Manifestations ◽  
Oral Glucose ◽  
Genetic Characteristics ◽  
Glucose Lowering ◽  
Target Values ◽  
Dipeptidyl Peptidase 4 Inhibitors

Most young patients with hyperglycemia have type 1 diabetes and type 2 diabetes but up to 10% of all cases of the disease occur in MODY (Maturity Onset Diabetes of the Young). Published abstracts show features of the debut, laboratory and genetic characteristics of MODY in the Russian population. However there is a small amount of data on the clinical course of this nosology in the Russian Federation.Aim: To investigate the characteristics of the 3-year course of GCK-MODY diagnosed after 18 years.Materials and methods: 85 probands and 46 relatives of the first and second degrees of kinship with a clinical diagnosis of GCK-MODY were examined: biochemical and hormonal blood tests, ultrasound, molecular genetic studies. Patients were invited for a follow-up visit 3 years after verification of the pathogenic mutations associated with GCK-MODY. Examination, biochemical and hormonalanalyzes , ultrasound were done in second visit.Results: The diagnosis GCK-MODY was verified by a molecular genetic study in 25 probands (29.4%). In 33 of 46 (71.7%) relatives of patients with GCK-MODY were diagnosed identical mutations. In 31 patients with GCK-MODY diagnosed after 18 years, a dynamic observation was performed for three years. Most patients over 18 years of age did not have clinical manifestations of carbohydrate metabolism disorders when diagnosing GCK-MODY and follow up visit. Skin rashes and allergic reactions prevailed among concomitant pathologies. Patients with GCK-MODY had preserved β-cell secretion, HbA1c targets were achieved. Low fasting hyperglycemia prevailed which persisted even after treatment correction. Among the characteristics of carbohydrate metabolism, biochemical, lipid and hormonal parameters during GCK-MODY verification and after three years of observation no significant differences were obtained, which indicates a stable course of the disease. Half of the patients achieved normoglycemia by rational nutrition, two people with GCK-MODY within three years after determining the diagnosis were transferred from insulin therapy to oral glucose-lowering drugs. Among oral glucose-lowering drugs prior to GCK-MODY verification most patients used metformin, 3 years later — dipeptidyl peptidase-4 inhibitors.Conclusion. The results of a three-year follow-up of a group of patients with GCK-MODY demonstrate a non-progressive course of this type of diabetes with stable indicators of carbohydrate metabolism and low fasting hyperglycemia that persists after 3 years of observation. With the verification of GCK-MODY and the achievement of the target values of glycated hemoglobin and postprandial glycaemia by rational nutrition, even if a low level of fasting hyperglycemia is determined, the prescription of oral glucose-lowering drugs is not indicated in most cases.

Marfan Syndrome

2005 ◽  
Vol 44 (04) ◽  
pp. 487-497 ◽  
Author(s):  
G. Mátyás ◽  
B. Steinmann ◽  
D. Baumgartner ◽  
C. Baumgartner
Keyword(s):  
Medical Treatment ◽  
Marfan Syndrome ◽  
Clinical Symptoms ◽  
Early Stage ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Hierarchical Cluster ◽  
Molecular Genetic Analysis ◽  
Missense Mutations ◽  
Surgical Interventions

Summary Objectives: Marfan syndrome (MFS) is an autosomal dominant inherited connective tissue disorder caused by mutations in the fibrillin-1 (FBN1) gene with variable clinical manifestations in the cardiovascular, musculoskeletal and ocular systems. Methods: Data of molecular genetic analysis and a catalogue of clinical manifestations including aortic elastic parameters were mined in order to (i) assess aortic abnormality before and during medical treatment, and to (ii) identify novel correlations between the genotype and phenotype of the disease using hierarchical cluster analysis and logistic regression analysis. A score measure describing the similarity between a patient’s clinical symptoms and a characteristic phenotype class was introduced. Results: A probabilistic model for monitoring the loss of aortic elasticity was built on merely aortic parameters of 34 patients with classic MFS and 43 control subjects showing a sensitivity of 82% and a specificity of 96%. The clinical phenotypes of 100 individuals with classical or suspected MFS were clustered yielding four different phenotypic expressions. The highest correlation was found between FBN1 missense mutations, which manifested as ectopia lentis, skeletal major and skin minor criteria, and two out of four clustered phenotypes. The probability of the presence of a missense mutation in both phenotype classes is approximately 70%. Conclusions: Monitoring of aortic elastic properties during medical treatment may serve as additional criterion to indicate elective surgical interventions. Genotype-phenotype correlation may contribute to anticipate the clinical consequences of specific FBN1 mutations more comprehensively and may be helpful to identify MFS patients at risk at an early stage of disease.

scholarly journals A Case of Primary Hepatic Lymphoma and Related Literature Review

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Yonghua Liu ◽  
Jinhong Jiang ◽  
Qinli Wu ◽  
Qiaolei Zhang ◽  
Yehui Xu ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Early Stage ◽  
Postoperative Radiotherapy ◽  
Clinical Manifestations ◽  
Hepatitis B Virus Infection ◽  
First Line ◽  
Primary Hepatic Lymphoma ◽  
Therapeutic Drugs ◽  
B Virus ◽  
First Line Treatment

Objective. Primary hepatic lymphoma is a rare disease. And the clinical manifestations of this disease are nonspecific. The objective of this paper is to improve clinicians’ understanding of this disease.Methods. We analyzed the clinical characteristics of a case of primary hepatic lymphoma in association with hepatitis B virus infection and reviewed the literature.Conclusion. The clinical manifestations of primary hepatic lymphoma are nonspecific. And it is easily misdiagnosed. Postoperative radiotherapy of patients with early stage was previously speculated to achieve favorable improvement. The application of targeted therapeutic drugs, chemotherapy, or combined local radiotherapy has become the first-line treatment strategy.

scholarly journals Clinical and pathological features of urothelial carcinoma in pediatric practice

2020 ◽  
Vol 13 (4) ◽  
pp. 18-22
Author(s):  
V.Yu. Startsev ◽  
◽  
G.V. Kondratiev ◽  
A.E. Balashov ◽  
◽  
...  
Keyword(s):  
Risk Factors ◽  
Urothelial Carcinoma ◽  
Molecular Subtype ◽  
Molecular Genetic ◽  
Age Groups ◽  
Young Patients ◽  
Clinical Manifestations ◽  
Older Age ◽  
Medical Community ◽  
Journal Citation Reports

Introduction. This review of the literature presents the results of the analysis of studies on the etiology, pathogenesis, methods of diagnosis and treatment of urothelial carcinoma in persons under 20 years of age. Worldwide, the number of such patients is small, and special programs of treatment and diagnostic measures, as well as molecular genetic panels for these patients have not yet been developed. Materials. Relevant publications indexed in PubMed, Web of Sciences Core Collection, and Journal Citation Reports were searched. Data on risk factors and molecular-genetic changes that contribute to malignancy of the urinary epithelium, early clinical manifestations, as well as features of radiation, endoscopic, morphological diagnostics and treatment of this class of tumors are analyzed. Results. Risk factors for urothelial carcinoma in patients younger than 20 years and older age groups are similar, however, there is a smaller role of occupational factors in young patients. Differences in the molecular subtype of tumors were found in these age groups with a predominance of urothelium-like subtype A among young patients, which leads to a more favorable prognosis of the disease and a lower rate of recurrence in individuals under 20 years of age. The main method of treatment of these neoplasms in both age groups remains transurethral resection of the bladder (TURMP), which allows radical removal of the tumor. Adjuvant treatment involving intra – bubble or systemic chemo-or immunotherapy in the postoperative period is indicated when detecting tumors with a high malignant potential, due to the risk of its metastasis and the high probability of the need for organ-carrying surgery. In clinical practice, recommendations developed for the treatment of cancer patients in the older age group are used, since there are no special guidelines for the diagnosis, treatment, and follow-up of younger patients. Conclusions. The development of methods for the timely diagnosis, treatment and Rehabilitation of children's patients with verified bladder tumors by representatives of the medical community (oncologists, oncologists, pediatricians) remains an urgent task in the near future.

scholarly journals Retrospective analysis of clinical characteristics and laboratory results of COVID-19 patients

2021 ◽  
Vol 19 ◽  
pp. 205873922110119
Author(s):  
Liying Zhang ◽  
Yusheng Peng ◽  
Qiao Zheng ◽  
Lanbin Jiang ◽  
Shijie Tang ◽  
...  
Keyword(s):  
Influenza A ◽  
Clinical Characteristics ◽  
Early Stage ◽  
False Negative ◽  
False Negative Rate ◽  
Clinical Manifestations ◽  
Significant Difference ◽  
Laboratory Results ◽  
Severe Group ◽  
Laboratory Examinations

The positive detection of SARS-CoV-2 is the “gold standard” for diagnosing COVID-19. However, due to the low detection capacity of SARS-CoV-2 and the high false negative rate at the beginning of the epidemic, and the medical staff did not know much about the condition and treatment of COVID-19 patients. Therefore, our hospital paid more attention to the results of other laboratory indicators in the early stage of the epidemic of COVID-19. The aim of this study was to explore clinical characteristics and laboratory results of COVID-19 patients in Wuhan, China and provide evidence for the prevention and treatment of COVID-19. Retrospective study of 562 COVID-19 patients hospitalized in Wuhan Red Cross Hospital from January 28 to March 12, 2020 was performed. The patients were divided into 2 groups according to the severity of illness: Mild group ( n = 436) and Severe group ( n = 126). The general clinical characteristics of the patients were collected, including age, gender, past medical history, clinical symptoms, etc. All patients underwent blood routine test, biochemical indicators, blood gas analysis and other related laboratory examinations. The clinical data and laboratory results of the two groups were compared. Compared with the patients in the Mild group, the patients in Severe group were older and the proportion of patients suffering from underlying disease (61.11%) was higher ( p < 0.05). In Severe group, WBC, NEUT, NLR, PCT, CRP, IL-6, ESR, CK, CK-MB, Mb, cTnI, D-D, Fib, and PaCO2 of patients had higher values, while the levels of LYMPH, HBG, PLT, PO2, and SaO2 were significantly reduced, and the differences were statistically significant ( p < 0.05). Between Severe group and Mild group, there was no significant difference in other indexes such as ALT, Urea, and Cr ( p > 0.05) or in the positive rate of influenza A, B virus, or other respiratory pathogens by pairwise comparison ( p > 0.05). Viral infection and inflammation were more serious in elderly patients or patients with underlying diseases. They were more likely to progress to severely ill patients. Clinical manifestations and laboratory examinations were important basis for clinical classification and treatment. Therefore, Timely and accurate attention to these indicators is beneficial to prevent the deterioration of the disease.

scholarly journals Clinical characteristics of COVID-19 in young patients differ from middle-aged and elderly patients

2021 ◽  
Author(s):  
Keqiang Wan ◽  
Chang Su ◽  
Lingxi Kong ◽  
Juan Liao ◽  
Wenguang Tian ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Smoking Status ◽  
Severe Disease ◽  
Young Patients ◽  
Clinical Manifestations ◽  
Pneumonia Severity Index ◽  
Education Level ◽  
The Other ◽  
Middle Aged ◽  
Youth Group

IntroductionCoronavirus disease-2019 (COVID-19) spreads worldwide. The study Aimed to understand the clinical characteristics of young COVID-19 patients.Material and methods90 patients with severe COVID-19 infection in western Chongqing were collected from 21 January to 14 March 2020. They were divided into 4 groups based on age: youth (<39 years), middle-aged (39-48 years), middle-elderly aged (49-60 years), and elderly (> 60 years). The clinical symptoms, laboratory findings, imaging findings, and treatment effects were compared among the groups.ResultsThere were 22, 27, 19, and 22 cases in the youth, middle-aged, middle-elderly, and elderly groups, respectively. There were no significant differences with respect to gender or smoking status among the four groups. The clinical indicators of severe disease in the youth group were significantly different from the other three groups, and included the lymphocyte count (P = 0.00), C-reactive protein level (P = 0.03), interleukin-6 level (P = 0.01), chest computed tomography (CT) findings (P = 0.00), number of mild cases (P = 0.02), the education level (P = 0.00), and the CD4 + T lymphocyte level (P = 0.02) at the time of admission, and the pneumonia severity index (PSI) at the time of discharge (P = 0.00). The complications (P = 0.00) among the youth group were also significantly different from the other groups.ConclusionsYoung patients have milder clinical manifestations, which may be related to higher education level, higher awareness and higher acceptance of the prevention and control of the COVID-19 epidemic, as well as their good immune function.

scholarly journals Molecular genetic and clinical variants MODY2 and MODY3 in children in Russia

2016 ◽  
Vol 61 (5) ◽  
pp. 14-25 ◽  
Author(s):  
Tamara Leonidovna Kuraeva ◽  
Elena Aleksandrovna Sechko ◽  
Lubov' Iosifovna Zilberman ◽  
Olga Nikolaevna Ivanova ◽  
Aleksandr Yurievich Mayorov ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Carbohydrate Metabolism ◽  
Clinical Characteristics ◽  
Molecular Genetic ◽  
Β Cells ◽  
Metabolism Disorder ◽  
Age Of Diagnosis ◽  
Clinical Variants ◽  
Fasting Glycaemia

Aim — to research molecular genetic and clinical characteristics of diabetes mellitus MODY2 and MODY3 in children.Material and methods. Genetic testing for GCK and HNF1α was performed in 169 patients with carbohydrate metabolism disorders, with age of diagnosis under 18. Carbohydrate metabolism disorders were interpreted as MODY. Analysis of clinical data at the presentation of carbohydrate metabolism disorder and cases follow-up was provided in 62 patients with genetic confirmed MODY2 and 18 patients with genetic confirmed MODY3.Results. Ratio MODY2 and MODY3 was 3,4:1. Carbohydrate metabolism disorders were diagnosed earlier in MODY2 than in MODY3 — 7,8 years (4,0; 10,5) vs. 11,8 years (9,7; 13,5) (p<0,01). Degree of carbohydrate metabolism disorder was less in MODY2 — in 22,4% of patients all makers of carbohydrate metabolism disorder (HbA1c, fasting glycaemia, 120 min glycaemia) were less than diabetic range, in MODY3 all these makers were diabetics in 100% of cases. Patients with MODY2 significantly less frequently were treated with antihyperglycemic drugs. Carbohydrate metabolism disorders in one of the parents were diagnosed earlier in MODY3 — in 24 years (18,5; 35,3) vs. 32 years (27; 37) in MODY2 (p<0,05), parents were treated with antihyperglycemic drugs — in 94,4% vs. 22,2%  respectively (p<0,01).Conclusion. This study is the largest in Russia and estimated that MODY2 is the most prevalence and has had milder presentation and less dysfunction of β-cells to compare to MODY-HNF1α.

scholarly journals ENDOCRINOLOGY AND ADOLESCENCE: Dealing with transition in young patients with pituitary disorders

2019 ◽  
Vol 181 (4) ◽  
pp. R155-R171 ◽  
Author(s):  
Emilia Sbardella ◽  
Carlotta Pozza ◽  
Andrea M Isidori ◽  
Ashley B Grossman
Keyword(s):  
Transition Period ◽  
Young Patients ◽  
Clinical Manifestations ◽  
Treatment Strategies ◽  
Holistic Approach ◽  
Transition To Adult Care ◽  
Adult Care ◽  
Central Hypothyroidism ◽  
Transition Age ◽  
Cranial Diabetes Insipidus

Introduction The transition age is the period between childhood to adulthood; it refers to a broad set of physical, cognitive and sociocultural modifications, arbitrarily defined as starting in late puberty and ending with full adult maturation. Pituitary disorders in adolescence represent a challenge that requires careful management during the transition to adult care. Methods Given the complexity of care of pituitary disorders in the transition age, we have reviewed the relevant medical literature focusing on aetiology, clinical manifestations, treatment strategies of GH deficiency (GHD), hypogonadotrophic hypogonadism (HH) in male and female adolescents, central hypothyroidism (CH), central adrenal insufficiency (CAI) and cranial diabetes insipidus (CDI) at this time. The objective of the present review is to provide an up-to-date evaluation of the transition period to evaluate the specific needs of adolescents with chronic pituitary disease in order to optimise their management. Results We provide an overview of current clinical management of GHD, HH, CH, CAI and CDI in the transition age. Conclusions Specific changes occur in pituitary function during the transition period. A holistic approach including discussion of patients’ concerns and emotional support should constitute a key component of managing pituitary disorders in adolescence. Special transition clinics where paediatric and adult endocrinologists work together, should be increasingly created and strengthened to bridge care, to promote continuity and adherence to treatment and to limit potential negative development, metabolic, skeletal and cardiovascular sequelae of discontinuity of care among adolescents with pituitary disorders.

scholarly journals The role of molecular genetics in diagnostics and treatment of endocrine diseases. Brief characteristic of monogenic forms of hereditary endocrinopathies diagnosed in Endocrinological Research Centre during the 15 year period (1996-2010)

2011 ◽  
Vol 57 (1) ◽  
pp. 26-34
Author(s):  
A N Tiul'pakov
Keyword(s):  
Molecular Genetics ◽  
Molecular Genetic ◽  
Research Centre ◽  
Medical Sciences ◽  
Endocrine Diseases ◽  
Treatment And Prevention ◽  
Great Progress ◽  
Hormone Biosynthesis ◽  
Monogenic Forms Of Diabetes

Recent years have witnessed great progress in molecular genetics leading to impressive breakthroughs in medical sciences at large and in endocrinology in particular. The objective of the present article is to summarize information on the cases of monogenic hereditary endocrinopathies verified in the Endocrinological Research Centre during the 15 year period (1996-2010). These data are based on the analysis of 36 different genes associated with endocrine pathologies, such as hereditary forms of hypopytuitarism, disturbances of steroid hormone biosynthesis, abnormal gender formation, monogenic forms of diabetes mellitus, endocrine tumours, etc. The importance of molecular-genetic investigations for the treatment and prevention of endocrine diseases is discussed.

scholarly journals ETIOPATHOGENIC, EPIDEMIOLOGIC AND CLINICAL-THERAPEUTIC COMPARISON OF NON-HODGKIN’S LYMPHOMA AND KAPOSI’S SARCOMA

2020 ◽  
Vol 33 (2) ◽  
Author(s):  
Andy PETROIANU ◽  
Luiz Ronaldo ALBERTI ◽  
Vanessa Lacerda ORSI ◽  
Flávia Costa Teixeira VIANA ◽  
Carolina Braga MOURA
Keyword(s):  
Clinical Characteristics ◽  
Kaposi's Sarcoma ◽  
Young Patients ◽  
Clinical Manifestations ◽  
Kaposi’S Sarcoma ◽  
Viral Etiology ◽  
At Iii ◽  
Primary Neoplasms ◽  
The Mean ◽  
Hodgkin's Lymphomas

ABSTRACT Background: Non-Hodgkin’s lymphomas (NHL) are primary neoplasms derived from lymphocytes, and Kaposi’s sarcoma (SK) is a multicentric disease of viral etiology and is associated with HIV. Aim: To study the etiopathogenesis and clinical characteristics of NHL and KS, describing their mutual factors. Methods: This retrospective investigation was performed on 101 medical charts. The patients were studied according to their age, gender, and HIV-positivity, following the PRISMA guidelines. The characteristics of the tumors and comorbidities were analyzed according to their age and lymphatic metastasis. Results: The mean age of the patients ranged between 15-87 years for NHL and between 25-54 for KS, but the age of patients with NHL associated with HIV did not surpass 34 years. The ratio male: female was 1,8:1 for NHL, but only men presented KS. HIV-positivity was found in five patients with NHL and in 14 with KS. The stages of NHL were: I (21%), II (18,4%), III (26,3%), and IV (34,2%), but KS were found only at III (40%) and IV (60%) stages. The lymphatic metastases were positive in 62 patients NHL and in four with KS. HIV-positivity occurred in 60% of patients with NHL and in 50% with KS. Conclusion: The HIV seropositivity was revealed for most of patients during the NHL and SK propaedeutic and none of them present clinical manifestations of AIDS. NHL associated with HIV was found only in young patients. NHL and KS patients have similar epidemiological, clinical, and therapeutic characteristics.

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