المؤلفون: Marisa A. Nunes, Jana Urbanová, Ludmila Brunerová, Jan Brož

المصدر: Archives of Gynecology and Obstetrics. 302:305-314

مصطلحات موضوعية: Pregnancy, Pediatrics, medicine.medical_specialty, education.field_of_study, business.industry, Population, Obstetrics and Gynecology, General Medicine, medicine.disease, Human genetics, Standard procedure, Gestational diabetes, Diabetes mellitus, Medicine, Identification (biology), business, Pregnancy outcomes, education

الوصف: Screening of gestational diabetes/GDM (although different in different countries) represents a standard procedure allowing to identify women with pregnancy-associated diabetes. Some of the women with GDM (up to 5%) may, however, suffer from previously undiagnosed MODY (Maturity-Onset Diabetes of the Young). Currently, no international or local guidelines focused on the identification of MODY among GDM exist. Thus, the aim of this manuscript is to propose a clear guide for clinicians on how to detect MODY among pregnant women with gestational diabetes. Based on the available literature about diagnosis (in general population) of MODY and management of MODY (both, in general population and in pregnant women), we propose a clear clinical guide on how to diagnose and manage MODY in pregnancy. The manuscript suggests a feasible clinical approach how to recognize MODY among patients with GDM and how to manage pregnancy of women with three most common MODY subtypes. A correct classification of diabetes is, nonetheless, essential, particularly in case of MODY, as the management of pregnant women with MODY is different and the correct diagnosis of MODY enables individualized treatment with regard to optimal pregnancy outcomes.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7ae78c09a2541ee06445197980a343a3Test
https://doi.org/10.1007/s00404-020-05626-yTest

المؤلفون: Jan Broz, Ludmila Brunerová, Jana Urbanová

المصدر: Wiener klinische Wochenschrift. 131(17-18)

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Adult patients, Adolescent, business.industry, Early detection, Type 2 Diabetes Mellitus, General Medicine, 030204 cardiovascular system & hematology, medicine.disease, Maturity onset diabetes of the young, Gestational diabetes, 03 medical and health sciences, 0302 clinical medicine, Diabetes Mellitus, Type 2, Diabetes mellitus, Child, Preschool, medicine, Humans, Female, 030212 general & internal medicine, Differential diagnosis, business, Child

الوصف: Maturity onset diabetes of the young (MODY) represents a diabetes type which has an enormous clinical impact. It significantly alters treatment, refines a patient’s prognosis and enables early detection of diabetes in relatives. Nevertheless, when diabetes is manifested the vast majority of MODY patients are not correctly diagnosed, but mostly falsely included among patients with type 1 or type 2 diabetes, in many cases permanently. The aim of this article is to offer a simple and comprehensible guide for recognizing individuals with MODY hidden among adult patients with another type of long-term diabetes and in women with gestational diabetes.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d41328d312665b4dc894aefd1a7b7ee7Test
https://pubmed.ncbi.nlm.nih.gov/31493099Test

المؤلفون: Jan Brož, Ludmila Brunerová, Jana Urbanová

المصدر: Diabetes research and clinical practice. 148

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Clinical Audit, business.industry, Endocrinology, Diabetes and Metabolism, Infant, Newborn, General Medicine, medicine.disease, Gestational diabetes, Diabetes, Gestational, Endocrinology, Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 2, Pregnancy, Diabetes mellitus, Internal Medicine, medicine, Humans, Female, business, Retrospective Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa548fbf3f70f720918175f3c1900d0bTest
https://pubmed.ncbi.nlm.nih.gov/30244050Test

المؤلفون: Ivan Rychlik, Petr Kasalický, Jana Verešová, Petra Beranová, Jana Potoèková, Ludmila Brunerová, Petra Ronová

المصدر: Kidney & Blood Pressure Research, Vol 41, Iss 3, Pp 345-354 (2016)

مصطلحات موضوعية: Male, lcsh:Diseases of the circulatory (Cardiovascular) system, medicine.medical_specialty, Trabecular bone score, Bone density, medicine.medical_treatment, Osteoporosis, 030232 urology & nephrology, 030209 endocrinology & metabolism, lcsh:RC870-923, 03 medical and health sciences, 0302 clinical medicine, Bone Density, Renal Dialysis, Chronic kidney disease-mineral and bone disorder, lcsh:Dermatology, medicine, Humans, Aged, Aged, 80 and over, Chronic Kidney Disease-Mineral and Bone Disorder, Kidney, business.industry, General Medicine, Middle Aged, lcsh:RL1-803, lcsh:Diseases of the genitourinary system. Urology, medicine.disease, Surgery, medicine.anatomical_structure, lcsh:RC666-701, Nephrology, Hemodialysis, Cancellous Bone, Female, Kidney Diseases, Cardiology and Cardiovascular Medicine, Densitometry, business, Cancellous bone

الوصف: Background/Aims: Small attention is paid to other types of bone diseases then chronic kidney disease-mineral and bone disorder in dialysis patients. The aim of our study was to assess the occurrence of osteoporosis and bone microarchitecture by trabecular bone score in this population. Methods: 59 patients (67.6 ± 13.1 years, 43 males) treated with hemodiafIltration underwent densitometry (Lunar Prodigy, TBS software 2.1.2) and laboratory assessment. Results: Osteoporosis was observed in 34% patients, high bone turnover was found in 80% of them, with SHPT (PTH > 300 ng/l) present in 69%. TBS was significantly decreased in 47.5% of the patients. TBS correlated with T- and Z-scores of the lumbar spine and proximal femur in the total population (P < 0.0001) and in men (P < 0.00001) and there were significant differences between TBS in groups with normal densitometry, osteopenia, and osteoporosis, both in total population (P < 0.0001; P < 0.01) and in men (P < 0.001; P < 0.001). Conclusions: Osteoporosis was found in about 1/3 of patients treated with hemodiafiltration. Normal TBS was found in only 1/4 of the dialysis population. TBS correlated with densitometric parameters and was significantly different relative to T-scores.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c066711c0c55fbad9ef0ca477fd192feTest
https://doi.org/10.1159/000443439Test

المؤلفون: Jan Broz, Jana Urbanová, Ludmila Brunerová

المصدر: Diabetes Research and Clinical Practice. 158:107914

مصطلحات موضوعية: Male, endocrine system, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Type 2 diabetes, Hypoglycemia, Bioinformatics, Maturity onset diabetes of the young, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Diabetes mellitus, Internal Medicine, medicine, Humans, Hypoglycemic Agents, Glucose homeostasis, 030212 general & internal medicine, business.industry, Insulin sensitivity, General Medicine, medicine.disease, HNF1A, Increased risk, Diabetes Mellitus, Type 2, Female, business

الوصف: Maturity onset diabetes of the young (MODY) is a heterogeneous group of diseases caused by a single mutation in one of the 14 genes involved in the regulation of glucose homeostasis. GCK, HNF1A, and HNF4A genes are among the most common genes affected. Expression of these genes in the key organs for defense against hypoglycemia and their participation in counter-regulation to hypoglycemia may potentially put individuals with a heterozygous mutation in these genes at increased risk for hypoglycemia. In HNF4A-MODY and HNF1A-MODY patients, normal or even increased insulin sensitivity together with glucose-independent mechanism of action of the first-line therapy - sulphonylurea derivatives - often leads to hypoglycemia, even at the much lower dose used in type 2 diabetes. This review aims to analyze clinical studies and case reports concerning hypoglycemia associated with antihyperglycemic treatment in adult MODY patients.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0d45a2a748d6ed547bbc772709cbffcTest
https://doi.org/10.1016/j.diabres.2019.107914Test

المؤلفون: Ludmila Brunerová, Jana Urbanová, Marisa A. Nunes, Jan Brož

المصدر: The American Journal of Emergency Medicine. 37:770-771

مصطلحات موضوعية: Type 1 diabetes, Pediatrics, medicine.medical_specialty, Hyperkalemia, business.industry, Type 2 Diabetes Mellitus, General Medicine, Emergency department, Hypoglycemia, medicine.disease, Diabetes mellitus, Intravenous insulin, Emergency Medicine, medicine, medicine.symptom, business, Complication

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a9cd1152bbbc3953d7142f23e9385caaTest
https://doi.org/10.1016/j.ajem.2018.08.032Test

المؤلفون: Ivan Rychlik, Vernerová Z, Ivan Sebesta, Pavelková A, Dvoráková L, Ludmila Brunerová

المصدر: Nucleosides, Nucleotides and Nucleic Acids. 25:1305-1308

مصطلحات موضوعية: Adult, Male, Hypoxanthine Phosphoribosyltransferase, medicine.medical_specialty, Erythrocytes, Gout, Biopsy, Inflammation, Kidney, Biochemistry, Gastroenterology, Renal amyloidosis, AA amyloidosis, Internal medicine, Genetics, medicine, Humans, Gouty arthritis, Family Health, Proteinuria, medicine.diagnostic_test, Chemistry, Standard treatment, Amyloidosis, General Medicine, Middle Aged, medicine.disease, Endocrinology, Purines, Molecular Medicine, Kidney Diseases, Renal biopsy, medicine.symptom

الوصف: AA amyloidosis caused by the chronic inflammation accompanying gouty arthritis is extremely rare and familial occurrence has not been described so far.We present the case of two brothers (47 and 44 years old) with 7- and 10-year history of hyperuricaemia and chronic tophaceous gout with polyarticular involvement. The enzymatic assay performed in their erythrocytes proved the partial hypoxanthine-guanine phosphoribosyl transferase deficiency (Kelley-Seegmiller syndrome), the genetic defect of purine metabolism. Later on they developed proteinuria and chronic renal insufficiency /CRI/. Renal biopsy disclosed the combination of AA amyloidosis and gouty nephropathy in both the cases. Despite the standard treatment the older brother progressed to chronic renal failure. On the contrary, the younger one being longterm treated with oral colchicin have stabilized CRI.Only several cases of AA renal amyloidosis until recently, secondary to gout have been reported. Our case represents the first report of familial occurrence of this extremely rare disease.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a15928db67861d3da5511f50709d045dTest
https://doi.org/10.1080/15257770600893941Test