Paula Freitas

Ljubljana University Medical Centre, Lubliano, Ljubljana, Slovenia

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Publications (56)32.49 Total impact

  • 05/2015; DOI:10.1530/endoabs.37.EP724
  • 05/2015; DOI:10.1530/endoabs.37.EP641
  • 05/2015; DOI:10.1530/endoabs.37.EP770
  • 05/2015; DOI:10.1530/endoabs.37.EP769
  • 05/2015; DOI:10.1530/endoabs.37.EP1224
  • 05/2015; DOI:10.1530/endoabs.37.EP561
  • 05/2015; DOI:10.1530/endoabs.37.EP725
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    E Lau, D Carvalho, P Freitas
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    ABSTRACT: Familial partial lipodystrophy, Dunnigan variety, is a recognised autosomal dominant disorder which is caused by heterozygous missense mutations in the lamin A/C gene. Dunnigan lipodystrophy is characterised by a variable loss of fat from the extremities and trunk, as well as an excess of subcutaneous fat in the chin and supraclavicular area. The associated metabolic abnormalities include: insulin resistance, diabetes, dyslipidaemia and low leptin levels. The authors studied the case of a 24-year-old caucasian pregnant woman, with a past medical history of acute pancreatitis, combined dyslipidaemia and diabetes mellitus. At 7 weeks of pregnancy she was referred to the outpatient endocrinology and obstetrics clinic for diabetes care. A physical examination revealed that she presented a loss of fat from the extremities and trunk and also had an excess of subcutaneous fat in the chin. Triglyceride levels were persistently high, and glycaemic control was only achieved through the administration of high doses of insulin (1.8 U/Kg/day). Dunnigan lipodystrophy was suspected and thus a genetic study was requested, which revealed the presence of c.1444C > T (p.Arg482Trp) heterozygote mutation in the lamin A/C gene. This case is used to illustrate the importance of being able to recognise the clinical signs of this rare lipodystrophic syndrome, which may cause potentially severe consequences, and also the difficulties in treating it during pregnancy.
    BMC Research Notes 04/2015; 8(1):140. DOI:10.1186/s13104-015-1065-4
  • Hormones (Athens, Greece) 04/2015; 14(2):317-20. · 1.24 Impact Factor
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    ABSTRACT: Combined antiretroviral therapy (cART) for the treatment of HIV-1 infection has been associated with complications, including lipodystrophy. Several interleukins have been implicated in the pathology and physiology of lipodystrophy. The present study aimed to compare the levels of IL-4 and IL-6 in HIV-1 patients under cART with and without, clinically and fat mass ratio defined, lipodystrophy and in four different groups of fat distribution: (1) no lipodystrophy; (2) isolated central fat accumulation; (3) isolated lipoatrophy and (4) mixed forms of lipodystrophy. In the present cross-sectional study we evaluated IL-4 and IL-6 levels, insulin resistance and insulin sensitivity indexes in 86 HIV-infected adults under cART. No significant differences in IL-4 and IL-6 levels between the four groups of body composition were observed. Patients with HOMA-IR >4 presented higher levels of IL-6 and lower levels of IL-4, although without statistical significance. No correlation between IL-6, or IL-4, HOMA-IR and quantitative body fat mass distribution was found. Although there was a tendency for patients with isolated lipoatrophy and isolated fat accumulation to present higher IL-6 levels, these differences were not statistically significant. No differences were found relating IL-4 levels.
    Journal of endocrinological investigation 02/2015; DOI:10.1007/s40618-015-0256-0 · 1.55 Impact Factor
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    ABSTRACT: Diffuse lipomatosis of the thyroid gland is a very rare disease, characterized by extensive infiltration of thyroid parenchyma by mature adipose tissue, usually not accompanied by amyloid fibrils deposition. The pathophysiology of adipose tissue infiltration in the thyroid gland remains unknown. We report a clinical case of a diffuse thyroid lipomatosis, whose immunohistochemical study of succinate dehydrogenase - subunit B (SDHB) revealed loss of expression of this protein in the follicular or adipose cells. We detected the presence of a recently described SDHB gene large deletion. Loss of mitochondrial SDHB expression may have a key role in understanding the pathophysiology of thyrolipomatosis, by regulating status of lipid metabolism. © Georg Thieme Verlag KG Stuttgart · New York.
    Hormone and Metabolic Research 02/2015; 47(3). DOI:10.1055/s-0034-1398559 · 2.04 Impact Factor
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    ABSTRACT: Introduction: Obesity is associated with an increased risk of type 2 Diabetes Mellitus (DM). Oral glucose tolerance test (OGTT), fasting plasma glucose (FPG) and A1c test can be use to diagnose the condition. As the OGTT is more expensive and time consuming than alternative tests is questionable to perform the test in all obese patients. Objective: To compare OGTT with A1c and FPG in the diagnosis of DM in obese patients. Methods: Cross-sectional study of a population of 717 morbidly obese adults evaluated in a Multidisciplinary Assessment of Surgical Treatment of Morbid Obesity between January/2010-December/2013. Demographic, anthropometric and metabolic parameters were evaluated. Diabetes was defined according to ADA criteria. Results: In a cohort of 717 patients, 629 (87.7%) were female, with a median age of 41 years (IQR 35–51) and a median BMI of 43.5kg/m2 (IQR 40.6–47.1). Of 707 patients who performed FPG, 18 (2.5%) met DM criteria; of 657 patients who underwent OGTT, 37 (5.6%) fulfilled DM criteria; of 673 who performed A1c, 25 patients (3.7%) had DM by this criterion. 629 patients performed the three diagnostic tests. Of those, 18 patients (2.9%) did not meet criteria for DM by A1c or FPG, but they were diagnosed by OGTT. The FPG and A1c diagnosed DM in 12 patients (1.9%) with a normal OGTT. The FPG and A1c test showed a specificity of 98% and a sensitivity of 48.6% for the identification of patients with DM compared with OGTT. Conclusion: OGTT diagnosed diabetes in patients with normal FPG and A1C. FPG or A1c showed a low diagnostic sensitivity, which highlights the importance of performing OGTT in obese patients, in order to reduce the number of undiagnosed cases of diabetes.
    Obesity Facts 01/2015; · 1.71 Impact Factor
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    ABSTRACT: AbstrAct Obesity and type 2 diabetes are metabolic diseases that have reached epidemic proportions worldwide. Although their etiology is complex, both result from interplay between behaviour, environment and genetic factors. Within ambient determinants, human overall gut bacteria have been identified as a crucial mediator of obesity and its consequences. Gut microbiota plays a crucial role in gastro-intestinal mucosa permeability and regulates the fermentation and absorption of dietary polyssacharides, which may explain its importance in the regulation of fat accumulation and the resultant development of obesity-related diseases. The main objective of this review is to address the pathogenic association between gut microbiota and obesity and to explore related innovative therapeutic targets. New insights into the role of the small bowel and gut microbiota in diabetes and obesity may make possible the development of integrated strategies to prevent and treat these metabolic disorders.
    Hormones 01/2015;
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    E Lau, D Carvalho, P Freitas
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    ABSTRACT: Nonalcoholic fatty liver disease is the hepatic expression of metabolic syndrome, being frequently associated with obesity, insulin resistance, and dyslipidemia. Recent lines of evidence have demonstrated a role of gut microbiota in insulin resistance, obesity, and associated metabolic disturbances, raising the interest in its relationship with NAFLD pathogenesis. Therefore, intestinal microbiota has emerged as a potential factor involved in NAFLD, through different pathways, including its influence in energy storage, lipid and choline metabolism, ethanol production, immune balance, and inflammation. The main objective of this review is to address the pathogenic association of gut microbiota to NAFLD. This comprehension may allow the development of integrated strategies to modulate intestinal microbiota in order to treat NAFLD.
    BioMed Research International 01/2015; 2015. DOI:10.1155/2015/979515 · 2.71 Impact Factor
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    ABSTRACT: Diabetes mellitus is a chronic metabolic disease, the prevalence of which has registered a considerable increase, mainly in adults and elderly. The purpose of this study was to assess the relationship between health-related quality of life in patients with diabetes and sex, body mass index, type of diabetes and treatment regimens (type 1 diabetes: intensive versus conventional treatment; type 2 diabetes: insulin use versus non-insulin use), and duration of diabetes. One hundred and twenty-four patients with diabetes were interviewed. Health-related quality of life was evaluated using the age-adjusted Short-Form 36 dimensions (physical functioning, role-physical, bodily pain, general health, vitality, social functioning, role-emotional, and mental health), and related to demographic and clinical variables. Independent samples t-tests and One-Way Analysis of Variance were used to compare means of independent samples. The degree of association between pairs of variables was measured by Pearson's (r) or Spearman's (rs ) correlation coefficients. The mean age of the study population was 55.7±16.4 years; 54.8% were male, and 77.4% had type 2 diabetes. Females reported worse quality of life than males in all dimensions of the Short-Form 36, except for role-physical and bodily pain. Obese patients had worse physical functioning than normal weight and overweight patients, and worse vitality than their normal weight counterparts. Type 2 diabetic patients taking insulin had lower physical functioning and vitality than those without insulin therapy. Longer duration of diabetes was associated with lower physical functioning, role-physical, general health, vitality, role-emotional, and mental health. Being female, obese, having type 2 diabetes and taking insulin, and having a longer disease duration are characteristics associated with worse age-adjusted quality of life in patients with diabetes.
    Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy 01/2015; 8:219-226. DOI:10.2147/DMSO.S80472
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    ABSTRACT: Background HIV-infected patients may be at increased risk of cardiovascular (CV) events, and lipodystrophy is generally associated with proatherogenic metabolic disturbances. Carotid intima-media thickness (cIMT) has been used as a surrogate marker for atherosclerosis and it has been shown to be an independent risk factor for CV disease. Our objective was to evaluate cIMT in HIV-infected patients on combined anti-retroviral therapy (cART) with and without lipodystrophy defined by fat mass ratio (L-FMR), and to determine the association of lipodystrophy and visceral obesity [(visceral (VAT), subcutaneous adipose tissue (SAT) volume and VAT/SAT ratio, objectively evaluated by CT scan] with cIMT. Methods Cross-sectional study of 199 HIV-infected patients. Body composition by DXA and abdominal CT, lipids, blood pressure, inflammatory markers, and cIMT by ultrasonography were performed. L-FMR was defined as the ratio of the percentage of trunk fat mass to the percentage of lower limb fat mass by DXA. Categorical variables were compared using the chi-square or Fisher’s exact test. Spearman correlation coefficients were estimated to study the association between cIMT and clinical and metabolic characteristics. Means of cIMT, adjusted for age, were calculated, using generalized linear models. Results L-FMR was present in 41.2% of patients and cIMT was higher in these patients [0.81 (0.24) vs. 0.76 (0.25); p = 0.037)]. Lipodystrophic patients had higher VAT and VAT/SAT ratio and lower SAT. cIMT was associated with lipodystrophy evaluated by FMR, trunk fat, total abdominal fat, VAT and VAT/SAT ratio. No association was observed between cIMT and leg fat mass. Using generalized linear models, cIMT means were adjusted for age and no significant differences remained after this adjustment. The adjusted mean of cIMT was 0.787 (95% CI: 0.751-0.823) in patients without lipodystrophy, and 0.775 (95% CI: 0.732-0.817) in those with lipodystrophy (p = 0.671). Conclusions HIV-infected patients on cART with lipodystrophy defined by FMR, had a significantly higher cIMT. Carotid IMT was also associated with classical cardiovascular risk factors. In these patients, visceral adipose tissue had a significant impact on cIMT, although age was the strongest associated factor.
    BMC Infectious Diseases 06/2014; 14(1):348. DOI:10.1186/1471-2334-14-348 · 2.61 Impact Factor
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    ABSTRACT: Background Lipodystrophies are characterized by adipose tissue redistribution, insulin resistance (IR) and metabolic complications. Adipokines and hormones related to body composition may play an important role linking these alterations. Our aim was to evaluate adipocyte-derived hormones (adiponectin, leptin, resistin, TNF-α, PAI-1) and ghrelin plasma levels and their relationship with IR in HIV-infected patients according to the presence of lipodystrophy and fat redistribution. Methods Anthropometric and metabolic parameters, HOMA-IR, body composition by DXA and CT, and adipokines were evaluated in 217 HIV-infected patients on cART and 74 controls. Fat mass ratio defined lipodystrophy (L-FMR) was defined as the ratio of the percentage of the trunk fat mass to the percentage of the lower limb fat mass by DXA. Patient’s fat redistribution was classified into 4 different groups according the presence or absence of either clinical lipoatrophy or abdominal prominence: no lipodystrophy, isolated central fat accumulation (ICFA), isolated lipoatrophy and mixed forms (MXF). The associations between adipokines levels and anthropometric, metabolic and body composition were estimated by Spearman correlation. Results Leptin levels were lower in patients with FMR-L and isolated lipoatrophy, and higher in those with ICFA and MXF. Positive correlations were found between leptin and body fat (total, trunk, leg, arm fat evaluated by DXA, and total, visceral (VAT), subcutaneous adipose tissue (SAT), and VAT/SAT ratio evaluated by CT) regardless of FMR-L, and with HOMA-IR only in patients with FMR-L. Adiponectin correlated negatively with VAT, and its mean levels were lower in patients with ICFA and higher in those with no lipodystrophy. Resistin was not correlated with adipose tissue but positively correlated with HOMA-IR in FMR-L patients. PAI-1 levels were higher in MXF-patients and their levels were positively correlated with VAT in those with FMR-L. Ghrelin was higher in HIV-infected patients than controls despite BMI-matching. Conclusion The overall body fat reduction in HIV lipoatrophy was associated with low leptin plasma levels, and visceral fat accumulation was mainly associated with decreased plasma levels of adiponectin.
    BMC Infectious Diseases 06/2014; 14(1):347. DOI:10.1186/1471-2334-14-347 · 2.61 Impact Factor
  • 04/2014; DOI:10.1530/endoabs.35.P162
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    ABSTRACT: Cushing's disease is a rare condition which may present with a variety of signs and symptoms. In this report, we present a case of a 37-year-old man referred to our department due to osteoporosis complicated with vertebral and rib fractures and loss of six centimeters in height within the previous year. Study of secondary causes of osteoporosis led to the diagnosis of Cushing's disease. The patient was submitted to transsphenoidal surgery and histological findings confirmed the diagnosis. After surgery, the symptoms improved. Glucocorticoid induced osteoporosis may be reversible, but recovery of bone loss is gradual and may continue for as long as 10 years before bone mineral density normalizes. This case illustrates the need to consider secondary causes of osteoporosis in a young man with bone fractures, namely Cushing's syndrome.
    Acta reumatologica portuguesa 02/2014; · 0.83 Impact Factor

Publication Stats

63 Citations
32.49 Total Impact Points

Institutions

  • 2015
    • Ljubljana University Medical Centre
      • Department of Endocrinology, Diabetes and Metabolic Diseases
      Lubliano, Ljubljana, Slovenia
  • 2010–2015
    • Centro Hospitalar de São João
      Oporto, Porto, Portugal
  • 2006–2015
    • University of Porto
      • Faculty of Medicine
      Oporto, Porto, Portugal
  • 2012
    • Faculdade de Medicina do ABC
      Santo André, São Paulo, Brazil
  • 2009–2012
    • Hospital de São João
      Oporto, Porto, Portugal