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BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) syndrome is usually accompanied by endocrine tumors, but non-endocrine tumors can occur as well. However, the coexistence of MEN1 syndrome and malignant tumor such as low-grade fibromyxoid sarcoma has not been described in the literature. Moreover, the MEN1 gene mutations have not been identified in patients with fibromyxoid sarcoma, so far. CASE PRESENTATION: We present a patient with a long-year endocrine follow-up due to multiple endocrine tumors. During his lifespan, he has been surgically treated for pancreatic gastrinoma, parathyroid hyperplasia, atypical pulmonary carcinoid, various benign mesenchymal, and several skin tumors (basocellular tumor, lipomas, and fibromas) which raised a high clinical suspicion of MEN1 syndrome but the patient refused genetic testing. Recently, he developed a novel malignant tumor - recurrent low-grade fibromyxoid sarcoma of the trunk and extremities with multiple subsequent operations. The patient eventually accepted the genetic testing which proved him to be a carrier of a novel mutation in the MEN1 gene. CONCLUSIONS: Unlike some other syndromes where a genetic mutation can predict clinical course, there is no genotype-phenotype correlation in MEN1 syndrome. Therefore, these patients require lifelong and multidisciplinary surveillance, not only for typical endocrine and benign non-endocrine tumors but also for diverse and even more malignant forms. The atypical clinical presentation should pose suspicion about new gene mutation and serve as a warning in the further follow-up.
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Fibrossarcoma/genética , Neoplasia Endócrina Múltipla Tipo 1/genética , Mutação , Proteínas Proto-Oncogênicas/genética , Fibrossarcoma/diagnóstico , Testes Genéticos , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 1/diagnóstico , Recidiva Local de NeoplasiaRESUMO
The aim of this study was to determine plasma adropin concentration and parameters of insulin resistance in obese male type 2 diabetes mellitus (T2DM) patients before and after 3-month liraglutide treatment. In this interventional study, we enrolled 15 obese male T2DM patients with body mass index (BMI) >35 kg/m2, uncontrolled disease and HbA1c >7.5%, having previously taken taking two oral antidiabetic drugs. We modified their therapy to metformin and liraglutide for the next three months. After three months of liraglutide treatment, we observed significant decrease in body weight (from 111.5±18.7 kg to 109.2±17.5 kg, p=0.016) and BMI (from 40.9±7.3 to 40.1±7.0 kg/m2, p=0.021). Plasma adropin concentration increased significantly (p=0.003) compared with baseline. Fasting plasma insulin level decreased from 17.79±6.53 to 13.38±3.51 mU/L (p=0.002), fasting plasma glucose level decreased from 8.66±3.07 to 7.41±2.21 mmol/L (p=0.004) and HbA1c decreased from 7.98±0.70% to 7.26±0.36% (p=0.003). Insulin resistance presented as HOMA-IR decreased significantly from 7.30±5.19 to 4.52±2.61 (p=0.002). Systolic blood pressure, lipid status, liver and kidney function improved, but not reaching statistical significance. Treating obese male T2DM patients with liraglutide resulted in a significantly higher plasma adropin concentration, significant weight loss and improved parameters of insulin resistance, i.e. decreased fasting plasma insulin, plasma glucose levels and HOMA-IR.
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Diabetes Mellitus Tipo 2 , Hipoglicemiantes , Liraglutida , Obesidade , Idoso , Glicemia , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/tratamento farmacológico , Hemoglobinas Glicadas , Humanos , Hipoglicemiantes/uso terapêutico , Insulina , Liraglutida/uso terapêutico , Masculino , Pessoa de Meia-Idade , Obesidade/complicaçõesRESUMO
BACKGROUND: In this study, we investigated the effectiveness of FreeStyle Libre Flash Glucose Monitoring (FGM) implementation in a real life clinical setting with the emphasis on the effect of initial education on the use of the FGM system. METHODS: This prospective observational study included 425 diabetes type 1 subjects followed up for 3 to 12 months (320 were followed up to 3 months, 267 up to 6 months and 147 up to period of one year). An FGM sensor was placed at study entry and all participants were educated through a period of 5 days on sensor usage and self-management of glycemia with follow up visits every 3 months. RESULTS: HbA1c values significantly decreased from baseline (T0) to 3 months (T3) (p < 0.001), with a drop from 7.48% ± 0.1% to 7.30 ± 0.1%. There was no change in time spent in hypoglycemia from T3 to T12, although there was a decreasing trend present. The change in HbA1c values in the entire cohort was driven by change in the subgroup of patients with HbA1c ≥7% with a drop from 8.22% ± 1.14% to 7.68% ± 1.26% (p < 0.0001) in the first 3 months. Also, in individuals performing SMBG less than 5 times per day, there was a steady decrease in HbA1c levels up to 6 months (p < 0.05 and p < 0.001, respectively) as opposed to those who performed SMBG ≥5 times per day. CONCLUSIONS: The improvement in HbA1c was mainly driven by the increase in the number of scans per day. The subjects with poorer glycemic control and those who seldom performed SMBG benefited the most.
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PURPOSE: This cohort study aimed to determine patterns of glycemic fluctuation and changes in metabolic parameters during and after corticosteroid administration in newly diagnosed diffuse large B-cell lymphoma (DLBCL) patients treated with R-CHOP chemotherapy. PATIENTS AND METHODS: The study was performed in 20 patients of whom 11 had diabetes and 9 were nondiabetics. Anthropometric parameters were collected, and blood samples were taken four times during the study to analyze metabolic parameters. Capillary glucose was measured seven times a day (fasting, before mean meals, postprandial, and before bedtime) to evaluate the glycemic profile. RESULTS: In all 20 patients, acute glucocorticoid administration resulted in the elevation of average glucose levels, dominantly postprandial in the afternoon which correlates with corticosteroid peak action. In 7 out of 11 diabetics, prandial insulin was started during corticosteroid administration and discontinued afterward. Although none of our nondiabetic patients met diabetes criteria, evident is the elevation in average glycemia levels six weeks after corticosteroid administration. Potentially, even transient corticosteroid administration reduces insulin sensitivity and contributes to later glycemic disturbances. HbA1c levels were higher at the end of the study while fructosamine levels were higher during the study. CONCLUSION: Patients and health-care professionals need to be aware of corticosteroid-induced hyperglycemia. We recommend identifying risk factors, measuring glycemia before, during, and after corticosteroid administration, and starting the adequate therapy as soon as possible.
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We aimed to provide insight into nutritional and clinical indicators of malnutrition risk and their influence on two-year mortality and re-hospitalization rate among patients hospitalized in internal clinic departments in the tertiary hospital in Croatia. Initially, data on 346 participants were obtained, while 218 of them where followed-up two years later. At baseline, the majority of participants were old and polymorbid (62.1% suffered from arterial hypertension, 29.5% from cancer, and 29.2% from diabetes). Even apparently presenting with satisfying anthropometric indices, 38.4% of them were at-risk for malnutrition when screened with the Nutritional Risk Screening-2002 (NRS-2002) questionnaire (NRS-2002 ≥ 3). More importantly, only 15.3% of all participants were prescribed an oral nutritional supplement during hospitalization. Those that were at-risk for malnutrition suffered significantly more often from cancer (54.9% vs. 20.6%; p < 0.001) and died more often in the follow-up period (42.7% vs. 23.5%; p < 0.003). Their anthropometric indices were generally normal and contradictory 46.3% were overweight and obese (body mass index (BMI) > 25 kg/m2). Only 36.6% of nutritionally endangered participants used an oral supplement in the follow-up period. NRS-2002 ≥ 3 correlated with anthropometric indices, glomerular filtration rate, age, and length of the initial hospital stay. Unlike other studies, NRS-2002 ≥ 3 was not an independent predictor of mortality and re-hospitalizations; other clinical, rather than nutritional parameters proved to be better predictors. Patients in our hospital are neither adequately nutritionally assessed nor managed. There is an urgent need to develop strategies to prevent, identify, and treat malnutrition in our hospital and post-discharge.
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Hospitalização , Desnutrição/mortalidade , Estado Nutricional , Centros de Atenção Terciária , Idoso , Antropometria , Índice de Massa Corporal , Croácia/epidemiologia , Ingestão de Alimentos , Feminino , Humanos , Hipertensão , Medicina Interna , Tempo de Internação , Masculino , Obesidade , Sobrepeso , Alta do Paciente , Estudos ProspectivosRESUMO
OBJECTIVE: Auto-adaptive positive airway pressure (APAP) is an emerging therapeutic modality for obstructive sleep apnea (OSA) patients. However, their associated physiological effects have not been well-defined. Therefore, we aimed to investigate the impact of a 1 year APAP treatment on lung function and arterial stiffness parameters. APPROACH: This study enrolled male patients with newly diagnosed severe OSA who have undergone APAP treatment. A total of 35 patients completed a 1 year follow up. Blood pressure, arterial stiffness (PWV, cAIx, pAIx, cSBP), and lung function readings (FEV1, FVC, FEV1/FVC, PEF) were obtained basally and after 1, 3, 6, and 12 months of treatment. MAIN RESULTS: A gradual increase in FEV1 has been observed over the follow-up (2.92 ± 0.88 versus 3.07 ± 0.92 versus 3.18 ± 0.93 versus 3.28 ± 0.93 versus 3.41 ± 0.97 L), while PWV showed a gradual decrease over the follow-up (9.72 ± 1.64 versus 9.32 ± 1.73 versus 8.89 ± 1.65 versus 8.53 ± 1.61 versus 8.46 ± 1.60 m s-1), as measured by absolute values. Linear mixed effects model analysis revealed a statistically significantly higher FEV1 values (coefficient of 0.11, 0.20, and 0.33 for 3rd month, 6th month, and 12th month, respectively, P < 0.001) and lower PWV values (coefficient of -0.69, -0.63, and -0.34 for 3rd month, 6th month, and 12th month, respectively, P < 0.001), after the initiation of APAP treatment. SIGNIFICANCE: We conclude that APAP treatment improves main lung function and arterial stiffness parameters in male patients with severe OSA over a 1 year follow-up.
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Pressão Positiva Contínua nas Vias Aéreas , Pulmão/fisiologia , Apneia Obstrutiva do Sono , Rigidez Vascular , Seguimentos , Humanos , Masculino , Testes de Função Respiratória , Apneia Obstrutiva do Sono/terapiaRESUMO
Metabolic syndrome (MetS) is a widespread disorder and an important public health challenge. The purpose of this study was to identify the association between salt taste perception, Mediterranean diet and MetS. This cross-sectional study included 2798 subjects from the general population of Dalmatia, Croatia. MetS was determined using the Joint Interim Statement definition, and Mediterranean diet compliance was estimated using Mediterranean Diet Serving Score. Salt taste perception was assessed by threshold and suprathreshold testing (intensity and hedonic perception). Logistic regression was used in the analysis, adjusting for important confounding factors. As many as 44% of subjects had MetS, with elevated waist circumference as the most common component (77%). Higher salt taste sensitivity (lower threshold) was associated with several positive outcomes: lower odds of MetS (OR = 0.69; 95% CI 0.52-0.92), lower odds for elevated waist circumference (0.47; 0.27-0.82), elevated fasting glucose or diabetes (0.65; 0.45-0.94), and reduced HDL cholesterol (0.59; 0.42-0.84), compared to the higher threshold group. Subjects with lower salt taste threshold were more likely to consume more fruit, and less likely to adhere to olive oil and white meat guidelines, but without a difference in the overall Mediterranean diet compliance. Salt taste intensity perception was not associated with any of the investigated outcomes, while salty solution liking was associated with MetS (OR = 1.85, CI 95% 1.02-3.35). This study identified an association between salt taste perception and MetS and gave a new insight into taste perception, nutrition, and possible health outcomes.
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Dieta Mediterrânea , Síndrome Metabólica/fisiopatologia , Síndrome Metabólica/psicologia , Fenômenos Fisiológicos da Nutrição/fisiologia , Cloreto de Sódio na Dieta , Percepção Gustatória/fisiologia , Paladar/fisiologia , Adulto , Estudos Transversais , Feminino , Frutas , Humanos , Masculino , Pessoa de Meia-Idade , Azeite de Oliva , Limiar Sensorial , Circunferência da Cintura , Adulto JovemRESUMO
Guidelines recommend adults with pituitary disease in whom GH therapy is contemplated, to be tested for GH deficiency (AGHD); however, clinical practice is not uniform. AIMS: 1) To record current practice of AGHD management throughout Europe and benchmark it against guidelines; 2) To evaluate educational status of healthcare professionals about AGHD. DESIGN: On-line survey in endocrine centres throughout Europe. PATIENTS AND METHODS: Endocrinologists voluntarily completed an electronic questionnaire regarding AGHD patients diagnosed or treated in 2017-2018. RESULTS: Twenty-eight centres from 17 European countries participated, including 2139 AGHD patients, 28% of childhood-onset GHD. Aetiology was most frequently non-functioning pituitary adenoma (26%), craniopharyngioma (13%) and genetic/congenital mid-line malformations (13%). Diagnosis of GHD was confirmed by a stimulation test in 52% (GHRH+arginine, 45%; insulin-tolerance, 42%, glucagon, 6%; GHRH alone and clonidine tests, 7%); in the remaining, ≥3 pituitary deficiencies and low serum IGF-I were diagnostic. Initial GH dose was lower in older patients, but only women <26 years were prescribed a higher dose than men; dose titration was based on normal serum IGF-I, tolerance and side-effects. In one country, AGHD treatment was not approved. Full public reimbursement was not available in four countries and only in childhood-onset GHD in another. AGHD awareness was low among non-endocrine professionals and healthcare administrators. Postgraduate AGHD curriculum training deserves being improved. CONCLUSION: Despite guideline recommendations, GH replacement in AGHD is still not available or reimbursed in all European countries. Knowledge among professionals and health administrators needs improvement to optimize care of adults with GHD.
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Laugier-Hunziker syndrome (LHS) is a rare, benign and acquired disorder characterized by hyperpigmentation of the oral cavity and lips along with longitudinal melanonychia. No underlying systemic abnormalities or malignant predisposition is associated with it. In everyday clinical practice, an endocrinologist encounters certain endocrine conditions (e.g. Addison's disease, McCune-Albright syndrome) that present with, inter alia, mucocutaneous hyperpigmentation. Even though LHS is easily distinguished from endocrine entities mentioned earlier, diagnostic evaluation usually requires skilled and thorough practitioner. Since it is the diagnosis of exclusion, a number of systemic conditions must be ruled out prior to making the final diagnosis. However, its major differential diagnosis is primarily Peutz-Jeghers syndrome, which carries an increased risk of cancer. Here, we report a case of a young woman who was referred to the endocrinologist for diagnostic evaluation of dark-colored lesions of the oral cavity and nails. All performed laboratory tests were within reference range. Endoscopic gastrointestinal evaluation did not reveal neoplastic formations. Owing to an adult-onset, asymptomatic clinical course and negative diagnostic findings, we made a final diagnosis. In this case, target diagnostic evaluation notably reduced the need for additional expensive and invasive procedures and treatments. LEARNING POINTS: Laugier-Hunziker syndrome is a rare, acquired cause of asymptomatic, benign mucocutaneous hyperpigmentation.Prior to making a final diagnosis, certain medical entities with overlapping clinical features must be excluded.Endocrine conditions that usually present with the hyperpigmentation of the skin and mucous membranes (e.g. Addison's disease, McCune-Albright syndrome) can be easily ruled out based on clinical and laboratory findings.Its major differential diagnosis, Peutz-Jeghers syndrome is characterized by melanotic macules of the face and mouth, intestinal polyposis and significantly increased risk of different types of cancer, especially gastrointestinal.Anamnesis, physical examination and target diagnostic evaluation reduce the need for additional invasive and expensive procedures and treatment.
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OBJECTIVE: Medical schools might benefit if they have information about the activities that may help them to increase the number of applicants with superior academic qualifications. METHODS: The study was carried out at the Split University School of Medicine, Croatia. Medical school applicants were surveyed in 2007 and 2009. Promotional activities consisted of presentations on medical education covering six general high-schools in 2008, and a presentation on regional television, aired in 2008 and 2009 shortly before the admission term. RESULTS: The survey response rate was 79% (299/379). The number of applicants in 2009 increased by 37% and the percentage of applicants from general high schools increased by 10%, in relation to 2007. The percentage of students with the best grades in all four years of high school was 42% in the both surveys. Presumed quality was a major influencing factor for choosing Split University Medical School. However, the medical school in the Croatian capital remained the first choice for students. Only a few applicants stated that the medical schools' promotional campaigns influenced their decision about where to study; 9.7% and 1.5%, respectively. CONCLUSION: Presentations in elected general high schools and a television campaign should be further explored as possible activities that regional schools may use to recruit potential applicants.