INTRODUCTION: Neonatal hypoglycaemia is the most common metabolic disorder of various causes, relatively rare being MODY (Maturity Onset Diabetes of the Young). CONTENT: Data search of relevant articles focused on hypoglycaemia in carriers of selected MODY gene mutations published from 2007 to 2022 was performed in databases Medline, PubMed, Cochrane and UptoDate based on key words: 'hyperinsulinemic hypoglycaemia', 'congenital hyperinsulinism', 'MODY', 'HNF4A mutation', 'HNF1A mutation'. SUMMARY: Loss of function of HNF4A and HNF1A genes comprises approximately to 5.9 % of diazoxide responsive hyperinsulinemic hypoglycaemia, which may appear in 15 % HNF4A mutation carriers. A typical finding of HNF4A mutation carriers with neonatal hypoglycaemia was a birth weight above 4000 g or above 97th percentile. OUTLOOK: Although mutations in MODY genes represent a rare cause of neonatal hypoglycaemia, they should be considered in the differential diagnosis, particularly in cases of persistent hypoglycaemia requiring intensive care.

• Klíčová slova
• HNF1A, HNF4A, MODY, congenital hyperinsulinism, hyperinsulinemic hypoglycemia,
• MeSH
• diabetes mellitus 2. typu * genetika   komplikace   MeSH
• hepatocytární jaderný faktor 1-alfa genetika   MeSH
• hepatocytární jaderný faktor 4 * genetika   MeSH
• hypoglykemie * genetika   etiologie   patologie   MeSH
• lidé MeSH
• mutace * MeSH
• nemoci novorozenců * genetika   MeSH
• novorozenec MeSH
• rodiče MeSH
• Check Tag
• lidé MeSH
• novorozenec MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• Názvy látek
• hepatocytární jaderný faktor 1-alfa MeSH
• hepatocytární jaderný faktor 4 * MeSH
• HNF1A protein, human MeSH Prohlížeč
• HNF4A protein, human MeSH Prohlížeč

Thyroid carcinoma (TC) is rare and represents 1-2 % of all human tumors. The incidence of TC has been increasing worldwide. TC comprises of a heterogeneous group of tumours with variable biological activity. Women are mostly affected. TC can be divided in differentiated TC/DTCs (papillary - PTC, follicular - FTC, from Hürthle cells - HCC), medullary carcinoma - MTC and anaplastic thyroid cancer - ATC. In this article, we focus on possible pitfalls of suppression therapy (cardiovascular, bone and mental), particularly in low-risk patients, and we discuss the data on the adherence to guidelines for suppression therapy in DTC.

• Klíčová slova
• differentiated thyroid cancer, adherence, risk, risks, supression therapy,
• MeSH
• folikulární adenokarcinom * patologie   terapie   MeSH
• hepatocelulární karcinom * MeSH
• incidence MeSH
• lidé MeSH
• nádory jater * MeSH
• nádory štítné žlázy * patologie   MeSH
• neuroendokrinní karcinom * MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

The available literature suggests that the most significant barriers to undergoing colonoscopy in general include “fear of pain and discomfort”, “fear of bowel preparation”, as well as directly unrelated influences such as “lack of support from family and friends”, “busy family and work schedules”, “other health problems” and the current “fear of getting COVID-19 in hospital”. A marital union may play a positive role, previous cancer a negative one. Another important factor is that patients are not used to talking about their barriers spontaneously; a guided conversation is a useful tool. Respondents in this qualitative study addressed these barriers as significant in their answers.

• Klíčová slova
• Fear, Pain, colonoscopy, colorectal cancer, mass screening, pain, screening,
• MeSH
• časná detekce nádoru MeSH
• COVID-19 * MeSH
• kolonoskopie MeSH
• kolorektální nádory * MeSH
• lidé MeSH
• plošný screening MeSH
• zdraví - znalosti, postoje, praxe MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

Diabetes mellitus (type 2 diabetes in particular) and colorectal carcinoma are relatively frequent diseases in our population. At the same time, these units share some common risk factors, for example obesity, lack of physical activity and hyperinsulinemia. Available data show patients with diabetes have increased risk of colorectal adenoma and carcinoma, increased risk of colorectal carcinoma at a lower age, as well as increased risk of relapse and increased mortality with colorectal cancer. The aim of this article is to point out the relationship between diabetes and colorectal carcinoma, with emphasis on the information important for clinical practice, particularly the screening of colorectal carcinoma and lifestyle recommendations for patients with diabetes. Therefore, we offer an overview of the important available publications which consider this topic.

• Klíčová slova
• Chemotherapy, DOAC, Trousseau syndrome, chemother­apy, low-molecular-weight heparins, paraneoplastic thromboembolic disease, primary prevention, treatment, type 2 diabetes,
• MeSH
• adenom * diagnóza   MeSH
• diabetes mellitus 2. typu * komplikace   epidemiologie   MeSH
• kolorektální nádory * komplikace   epidemiologie   terapie   MeSH
• lidé MeSH
• lokální recidiva nádoru MeSH
• rizikové faktory MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

BACKGROUND AND AIMS: Vitamin D 24-hydroxylase is an enzyme encoded by the CYP24A1 gene, which inhibits the activation of vitamin D to form inactive metabolites. More than 20 currently described pathogenic variants (usually biallelic) of this gene are responsible for idiopathic infantile hypercalcemia manifested typically in childhood (often in newborns) with hypercalcemia, hypercalciuria, and nephrocalcinosis. However, a few patients (mostly with monoallelic heterozygous pathogenic variants) can develop mild symptoms in adulthood. CASE DESCRIPTION: We present the case of a 43-year-old male patient with hypertension and heterozygous Leiden mutation, with mural thrombi in the common iliac artery, who was sent by a nephrologist to endocrinological examination due to hypoparathyroidism, progressive hypercalcemia, hypercalciuria, and CKDG2A1. Complete laboratory and imaging methods (including PET-CT) excluded PTH-related peptide-mediated hypercalcemia and granulomatosis. Finally, the genetic analysis of the CYP24A1 gene revealed the presence of a novel combination of two heterozygous pathogenic variants: CYP24A1: c. 443T>C p.(Leu148Pro) and c.1186C>T p.(Arg396Trp). CONCLUSION: Differential diagnosis of patients with hypercalciuria, nephrocalcinosis, and hypercalcemia related to vitamin D exposure should include the CYP24A1 gene mutation. To the best of our knowledge, this is the first case of the novel combination of two heterozygous pathogenic variants of CYP24A1.

• Klíčová slova
• CYP24A1 mutation, adult, hypercalcemia, low PTH, nephrocalcinosis,
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

The glycemic response to ingested glucose for the treatment of hypoglycemia following exercise in type 1 diabetes patients has never been studied. Therefore, we aimed to characterize glucose dynamics during a standardized bout of hypoglycemia-inducing exercise and the subsequent hypoglycemia treatment with the oral ingestion of glucose. Ten male patients with type 1 diabetes performed a standardized bout of cycling exercise using an electrically braked ergometer at a target heart rate (THR) of 50% of the individual heart rate reserve, determined using the Karvonen equation. Exercise was terminated when hypoglycemia was reached, followed by immediate hypoglycemia treatment with the oral ingestion of 20 g of glucose. Arterialized blood glucose (ABG) levels were monitored at 5 min intervals during exercise and for 60 min during recovery. During exercise, ABG decreased at a mean rate of 0.11 ± 0.03 mmol/L·min-1 (minimum: 0.07, maximum: 0.17 mmol/L·min-1). During recovery, ABG increased at a mean rate of 0.13 ± 0.05 mmol/L·min-1 (minimum: 0.06, maximum: 0.19 mmol/L·min-1). Moreover, 20 g of glucose maintained recovery from hypoglycemia throughout the 60 min postexercise observation window.

• Klíčová slova
• exercise, glycemic excursion, hypoglycemia, hypoglycemia treatment, insulin therapy, type 1 diabetes,
• MeSH
• aplikace orální MeSH
• cvičení * MeSH
• cyklistika MeSH
• diabetes mellitus 1. typu krev   farmakoterapie   MeSH
• dospělí MeSH
• glukosa aplikace a dávkování   MeSH
• hypoglykemie farmakoterapie   MeSH
• inzulin krev   MeSH
• krevní glukóza analýza   MeSH
• lidé MeSH
• pilotní projekty MeSH
• srdeční frekvence MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• glukosa MeSH
• inzulin MeSH
• krevní glukóza MeSH

Arterial hypertension is one of the most frequent comorbidities of patients with type 2 diabetes, the rates are approximately three times higher among diabetics than in general population. The presence of both diseases increases the cardiovascular risk of the patients two to three times. Therefore, it is essential to control the blood pressure values vigorously down to 130/80 mmHg as recommended in guidelines of the Czech Hypertension Society. According to EHES Study data, the blood pressure control is not sufficient in Czech diabetic population. The target values are reached in only 29 % of diabetics. A well organized system of care, intensive antihypertensive treatment, self-monitoring of patients or appointment reminder system can be used to improve blood pressure control.

• Klíčová slova
• arterial hypertension, blood pressure control, hypoglycemia, masked hypertension, type 2 diabetes,
• MeSH
• ambulantní monitorování krevního tlaku MeSH
• antihypertenziva terapeutické užití   MeSH
• diabetes mellitus 2. typu * komplikace   farmakoterapie   MeSH
• hypertenze * farmakoterapie   MeSH
• krevní tlak MeSH
• lidé MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• antihypertenziva MeSH

Glucagon is actually used in the treatment of severe hypoglycemia. Due to technological difficulties with stability in solution, glucagon in currently available preparations was contained in a form of powder, which needs to be first dissolved in the water before application. This particular administration of glucagon was associated with a certain delay and several mistakes that decreased real amount of glucagon injected in the body. Currently two new formulas of glucagon appeared on the market - first as a stable liquid solution, second as a powder for nasal administration. This article summarizes currently available information about these preparations.

• Klíčová slova
• diabetes, glucagon, hypoglycemia, therapy, type 2 diabetes,
• MeSH
• aplikace intranazální MeSH
• diabetes mellitus 1. typu * MeSH
• glukagon terapeutické užití   MeSH
• hypoglykemie * chemicky indukované   farmakoterapie   MeSH
• inzulin terapeutické užití   MeSH
• krevní glukóza MeSH
• lidé MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• glukagon MeSH
• inzulin MeSH
• krevní glukóza MeSH

Latent Autoimmune Diabetes in Adults (LADA) is an autoimmune disease arising at adulthood. LADA is characterized by a less intensive autoimmune process, slower progression and a mild metabolic decompensation at onset compared with young-onset type 1 diabetes mellitus. The onset of LADA is usually in non-obese patients over 30, without prominent features of metabolic syndrome and insulin resistance. Nevertheless it may be falsely classified as type 2 diabetes, especially, when diagnosed in older age and for the possibility of non-insulin treatment for at least 6 months after diagnosis. LADA is treated early with insulin and combined with metformin in patients with a higher level of insulin resistance. Clinical studies suggested also effectivity of other oral antidiabetics enabling preservation of residual β-cell function, such as particularly incretines.

• Klíčová slova
• GADA, LADA, cardiovascular disease, diabetes mellitus, diagnosis, therapy, type 2 diabetes,
• MeSH
• autoprotilátky MeSH
• diabetes mellitus 1. typu * diagnóza   MeSH
• diabetes mellitus 2. typu * MeSH
• dospělí MeSH
• glutamát dekarboxyláza MeSH
• hypoglykemika terapeutické užití   MeSH
• latentní autoimunitní diabetes dospělých * diagnóza   terapie   MeSH
• lidé MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• senioři MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• autoprotilátky MeSH
• glutamát dekarboxyláza MeSH
• hypoglykemika MeSH

Cushing´s syndrome is a rare disease with the population prevalence about 40 patients per 1 million inhabitants, the number among patients with diabetes mellitus (DM) is probably higher. The screening of CS among the DM patients showed the prevalence between 0-2.9% in the groups of outpatients and 2-2.9% among the patients admitted to the hospital at the time of randomization. The routine screening of CS among patients with type 2 DM is not recommended at the moment. Nevertheless, the possibility of CS should be taken into the account mainly in patients with hypertension, obesity, microvascular complications, bad level of metabolic control or high insulin doses, especially, if more of these features are present. A hormonal profile of patients with adrenal incidentaloma should be evaluated.

• Klíčová slova
• Cushing´s syndrom, Cushing’s syndrome, adrenal incidentaloma, cardiovascular disease, diabetes mellitus, screning,
• MeSH
• Cushingův syndrom * MeSH
• diabetes mellitus 2. typu * MeSH
• hydrokortison MeSH
• lidé MeSH
• nádory nadledvin * MeSH
• plošný screening MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• hydrokortison MeSH