Publications by authors named "Olga Giménez-Palop"

26 Publications

  • Page 1 of 1

Altered Gesture Imitation and Brain Anatomy in Adult Prader-Willi Syndrome Patients.

J Int Neuropsychol Soc 2021 Mar 4:1-13. Epub 2021 Mar 4.

Specialized Service in Mental Health and Intellectual Disability Department, Institut Assistència Sanitària (IAS), Parc Hospitalari Martí i Julià, Girona, Spain.

Objective: To explore motor praxis in adults with Prader-Willi syndrome (PWS) in comparison with a control group of people with intellectual disability (ID) and to examine the relationship with brain structural measurements.

Method: Thirty adult participants with PWS and 132 with ID of nongenetic etiology (matched by age, sex, and ID level) were assessed using a comprehensive evaluation of the praxis function, which included pantomime of tool use, imitation of meaningful and meaningless gestures, motor sequencing, and constructional praxis.

Results: Results support specific praxis difficulties in PWS, with worse performance in the imitation of motor actions and better performance in constructional praxis than ID peers. Compared with both control groups, PWS showed increased gray matter volume in sensorimotor and subcortical regions. However, we found no obvious association between these alterations and praxis performance. Instead, praxis scores correlated with regional volume measures in distributed apparently normal brain areas.

Conclusions: Our findings are consistent in showing significant impairment in gesture imitation abilities in PWS and, otherwise, further indicate that the visuospatial praxis domain is relatively preserved. Praxis disability in PWS was not associated with a specific, focal alteration of brain anatomy. Altered imitation gestures could, therefore, be a consequence of widespread brain dysfunction. However, the specific contribution of key brain structures (e.g., areas containing mirror neurons) should be more finely tested in future research.
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http://dx.doi.org/10.1017/S1355617721000060DOI Listing
March 2021

3P association (3PAs): Pituitary adenoma and pheochromocytoma/paraganglioma. A heterogeneous clinical syndrome associated with different gene mutations.

Eur J Intern Med 2019 Nov 17;69:14-19. Epub 2019 Aug 17.

Department of Endocrinology, Hospital Universitari de Bellvitge, Carrer de la Feixa Llarga, s/n, 08907, L'Hospitalet de Llobregat, Barcelona, Spain. Electronic address:

Background: Pituitary adenomas (PA) associated with pheochromocytomas/paragangliomas (Pheo/PGL), also known as "the three P association" or "3PAs" could be the results of coincidence, but new evidence supports a common pathogenic mechanism in some patients. Our aim is to report the clinical data, surgical outcome, genetic findings of a large case series and review the current knowledge on this topic.

Methods And Results: In a retrospective multicentre study, we compiled 10 patients with PAs (6 new unreported cases). Six patients were female with mean age of 51.6 ± 18.0 years. PA were: 6 acromegaly, 3 prolactinoma and 1 non-functioning PA (NFPA). Among the Pheo/PGL, 7 patients had a single tumour (4 Pheo and 3 PGL) and 3 patients had multiple or bilateral disease (2 PGL and 1 Pheo). Patients with GH-secreting PA and NFPA underwent surgery, while patients with prolactinoma received medical treatment (one patient required surgery). Unilateral adrenalectomy was carried out in all single Pheo and a bilateral procedure was performed in the patient with bilateral tumour. A single tumour was resected in two patients with multiple PGL. We found 3 germline pathogenic mutations: 2 in SDHB (c.166-170delCCTCA and a gross deletion involving exon 1) and 1 SDHD (p.P81L exon 3). Two variants of uncertain significance: 1 in MEN1 (c.1618C > T; p.Pro540Ser) and 1 in RET (c.2556C > G, p.Ile852Met), and finally a RET somatic mutation in a Pheo tissue.

Conclusion: We actively suggest considering the possibility of hereditary disease in all cases with 3PA and performing a complete genetic study.
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http://dx.doi.org/10.1016/j.ejim.2019.08.005DOI Listing
November 2019

Salivary Cortisol Determination in ACTH Stimulation Test to Diagnose Adrenal Insufficiency in Patients with Liver Cirrhosis.

Int J Endocrinol 2019 20;2019:7251010. Epub 2019 Jun 20.

Endocrinology Department, Parc Taulí University Hospital, Institut d'Investigacio i Innovació Parc Taulí I3PT, Autonomous University of Barcelona, Sabadell, Spain.

Purpose: The prevalence of adrenal insufficiency (AI) in patients with decompensated liver cirrhosis is unknown. Because these patients have lower levels of cortisol-binding carrier proteins, their total serum cortisol (TSC) correlates poorly with free serum cortisol (FC). Salivary cortisol (SaC) correlates better with FC. We aimed to establish SaC thresholds for AI for the 250 g intravenous ACTH test and to estimate the prevalence of AI in noncritically ill cirrhotic patients.

Methods: We included 39 patients with decompensated cirrhosis, 39 patients with known AI, and 45 healthy volunteers. After subjects fasted ≥8 hours, serum and saliva samples were collected for determinations of TSC and SaC at baseline 0'(T) and at 30-minute intervals after intravenous administration of 250 g ACTH [30'(T), 60'(T), and 90'(T)].

Results: Based on the findings in healthy subjects and patients with known AI, we defined AI in cirrhotic patients as SaC-T< 0.08 g/dL (2.2 nmol/L), SaC-T < 1.43 g/dl (39.5 nmol/L), or ΔSaC<1 g/dl (27.6 nmol/L). We compared AI determination in cirrhotic patients with the ACTH test using these SaC thresholds versus established TSC thresholds (TSC-T< 9 g/dl [248 nmol/L], TSC-T < 18 g/dl [497 nmol/L], or ΔTSC<9 g/dl [248 nmol/L]). SaC correlated well with TSC. The prevalence of AI in cirrhotic patients was higher when determined by TSC (48.7%) than by SaC (30.8%); however, this difference did not reach statistical significance. AI was associated with sex, cirrhosis etiology, and Child-Pugh classification.

Conclusions: Measuring SaC was more accurate than TSC in the ACTH stimulation test. Measuring TSC overestimated the prevalence of AI in noncritically ill cirrhotic patients.
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http://dx.doi.org/10.1155/2019/7251010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6609341PMC
June 2019

Compulsions in Prader-Willi syndrome: occurrence and severity as a function of genetic subtype.

Actas Esp Psiquiatr 2019 May 1;47(3):79-87. Epub 2019 May 1.

Specialized Service in Mental Health and Intellectual Disability (SESM-DI), and Girona Biomedical Research Institute (IdibGi), Parc Hospitalari Martí i Julià, Institut d´Assistència Sanitària, Salt (Girona), Spain Department of Psychology, Philipps-Universität Marburg, Marburg, Germany.

Introduction: Compulsions are among the most typical behaviors in Prader-Willi syndrome (PWS). The most frequent causes of PWS are deletion of the genes located in the segment 15q11-q13 of the paternal allele and maternal uniparental disomy of cromosome 15. The aim of the present work was to study compulsive behavior in a sample of adults with PWS and analyze potential differences as a function of the genetic cause/subtype.

Material And Methods: In the 27 study participants, existence of type I deletion (n=7), type II deletion (n=13), and maternal disomy (n=7) was determined by means of genetic tests. The Yale-Brown Obsessive Compulsive Scale, the Compulsive Behavior Checklist, and the Repetitive Behavior Questionnaire were used to assess occurrence and severity of compulsions.

Results: Most of the participants showed compulsive behavior, the most frequent compulsions were those of inappropriate grooming (skin picking) and order (hoarding). The occurrence of compulsions was less frequent in the maternal disomy group than in the deletion groups. Severe compulsions were more frequent in those participants with type II deletion than in the other groups.

Conclusions: Differences in occurrence and severity of compulsions exist as a function of PWS genetic subtype. Our results support the idea that individuals with maternal disomy are less affected by compulsive behavior. More research on the severity of compulsions as a function of deletion type should be done, as the studies conducted so far have shown contradictory results.
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May 2019

Lack of response to disgusting food in the hypothalamus and related structures in Prader Willi syndrome.

Neuroimage Clin 2019 4;21:101662. Epub 2019 Jan 4.

Endocrinology and Nutrition Department, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT- UAB, 08208 Sabadell, Spain.

Objective: To investigate, based on a putative abnormal neural processing of disgusting signals in Prader Willi syndrome (PWS) patients, the brain response to visual representations of disgusting food in PWS using functional MRI (fMRI).

Methods: Twenty-one genetically-confirmed PWS patients, 30 age- and sex-matched and 28 BMI-matched control subjects viewed a movie depicting disgusting food-related scenes interspersed with scenes of appetizing food while fMRI was acquired. Brain activation maps were compared between groups and correlated with disgust and hunger ratings.

Results: At the cortical level, the response to disgusting food representations in PWS patients was qualitatively similar to that of control subjects, albeit less extensive, and engaged brain regions typically related to visually-evoked disgust, such as the anterior insula/frontal operculum, the lateral frontal cortex and visual areas. By contrast, activation was almost absent in limbic structures directly concerned with the regulation of instinctive behavior robustly activated in control subjects, such as the hypothalamus, amygdala/hippocampus and periaqueductal gray.

Conclusions: Our study provides novel insights into the neural substrates of appetite control in a genetically-mediated cause of obesity. The presence of significant cortical changes further indicates that PWS patients consciously process disgusting stimuli, but the virtual absence of response in deep, limbic structures suggests that disgusting signals do not adequately reach the primary brain system for the appetite control.
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http://dx.doi.org/10.1016/j.nicl.2019.101662DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6412080PMC
January 2020

Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome.

Endocrinol Diabetes Metab Case Rep 2017 Sep 28;2017. Epub 2017 Sep 28.

Endocrinology Department, Parc Taulí University Hospital, Sabadell, Barcelona, Spain.

Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropin-releasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic syndrome can develop due to longstanding untreated hypogonadism. Kallmann syndrome affects 1 in 10 000 men and 1 in 50 000 women. Defects in 17 genes, including KAL1, have been implicated. Kallmann syndrome can be associated with X-linked ichthyosis, a skin disorder characterized by early onset dark, dry, irregular scales affecting the limb and trunk, caused by a defect of the steroid sulfatase gene (STS). Both KAL1 and STS are located in the Xp22.3 region; therefore, deletions in this region cause a contiguous gene syndrome. We report the case of a 32-year-old man with ichthyosis referred for evaluation of excessive height (2.07 m) and weight (BMI: 29.6 kg/m2), microgenitalia and absence of secondary sex characteristics. We diagnosed Kallmann syndrome with ichthyosis due to a deletion in Xp22.3, a rare phenomenon. Learning points: Kallmann syndrome is a genetically heterogeneous disease characterized by hypogonadotropic hypogonadism with anosmia or hyposmia associated with defects in the production or action of gonadotropin-releasing hormone (GnRH) and hypoplasia of the olfactory bulbs. Several genes have been implicated in Kallmann syndrome, including KAL1, located in the Xp22.3 region, which is responsible for X-linked Kallmann syndrome. KAL1 encodes the protein anosmin-1. X-linked ichthyosis is caused by deficiency of the steroid sulfatase enzyme, encoded by STS, which is also located in the Xp22.3 region. Deletions involving this region can affect both genes and result in contiguous gene syndromes. Phenotype can guide clinicians toward suspicion of a specific genetic mutation. KAL1 mutations are mostly related to microgenitalia, unilateral renal agenesis and synkinesia, although patients need not present all these abnormalities. Longstanding untreated hypogonadism is associated with poor sexual health, osteoporosis and metabolic syndrome with the concomitant risk of developing type 2 diabetes mellitus and obesity. Treatment aims to promote the development of secondary sex characteristics, build and sustain normal bone and muscle mass and restore fertility. Treatment can also help minimize some psychological consequences. Treatments available for patients with congenital GnRH deficiency such as Kallmann syndrome include gonadal steroid hormones, human gonadotropins and GnRH. The choice of therapy depends on the goal or goals.
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http://dx.doi.org/10.1530/EDM-17-0083DOI Listing
September 2017

Treatment with growth hormone in the prader-willi syndrome.

Endocrinol Diabetes Nutr 2018 Apr 3;65(4):229-236. Epub 2018 Mar 3.

Servicio de Endocrinología y Nutrición, Hospital Universitari Parc Tauli, , Sabadell, España. Electronic address:

Introduction: The Prader-Willi syndrome (PWS) is a rare genetic disorder caused by absence of expression of the paternal alleles in región 15q11.2-q13. Obesity and hormonal deficiencies, especially of growth hormone (GH), are the most important signs from the therapeutic viewpoint. Recombinant GH (rGH) is effective in children and represents the mainstay in treatment; by contrast, little evidence in available in adult patients.

Objective: To review the reported evidence on the beneficial and adverse effects of treatment with rGH in children and adults.

Design: A review was made of 62 original articles published between 2000 and 2017 using the PubMed database.

Results: In pediatric and adult PWS, rGH improves body morphology and composition, physical performance, cognition, psychomotor development, respiratory function, and quality of life with few adverse effects.

Conclusions: Treatment with rGH is effective and safe and improves quality of life in both children and adults with PWS.
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http://dx.doi.org/10.1016/j.endinu.2018.01.006DOI Listing
April 2018

Improvement in cognitive abilities following cabergoline treatment in patients with a prolactin-secreting pituitary adenoma.

Int Clin Psychopharmacol 2018 03;33(2):98-102

Departments of Mental Health, CIBERSAM.

Hyperprolactinaemia may affect sexual and reproductive functioning. However, recent studies suggest that increased prolactin levels may also have negative effects on cognition. We aimed to study whether the reduction in prolactin levels by cabergoline in patients with hyperprolactinaemia is followed by an improvement in cognitive tasks. We studied seven patients with hyperprolactinaemia caused by a prolactinoma that had an indication to start treatment with cabergoline. All patients were assessed twice (baseline and 6-12 months after cabergoline treatment) with a cognitive battery. Plasma prolactin levels were determined. We found a significant improvement in the speed of processing, working memory, visual learning and reasoning and problem-solving domains after cabergoline treatment. Improvements in speed of processing and reasoning and problem solving were greater in patients with baseline prolactin levels above the median. In summary, a reduction in prolactin levels by cabergoline in patients with hyperprolactinaemia is followed by an improvement in cognitive abilities. This finding suggests that prolactin may be involved in cognitive processes, although cabergoline could also have procognitive effects that are independent of prolactin changes. Further clinical trials are needed to confirm the potential cognitive-enhancement properties of cabergoline in patients with chronic hyperprolactinaemia.
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http://dx.doi.org/10.1097/YIC.0000000000000199DOI Listing
March 2018

Lack of Postprandial Peak in Brain-Derived Neurotrophic Factor in Adults with Prader-Willi Syndrome.

PLoS One 2016;11(9):e0163468. Epub 2016 Sep 29.

Department of Endocrinology and Nutrition, Sabadell University Hospital, Corporació Sanitària Parc Taulí, Sabadell, Spain, Autonomous University of Barcelona, Bellaterra, Spain.

Context: Prader-Willi syndrome (PWS) is characterized by severe hyperphagia. Brain-derived neurotrophic factor (BDNF) and leptin are reciprocally involved in energy homeostasis.

Objectives: To analyze the role of BDNF and leptin in satiety in genetic subtypes of PWS.

Design: Experimental study.

Setting: University hospital.

Subjects: 90 adults: 30 PWS patients; 30 age-sex-BMI-matched obese controls; and 30 age-sex-matched lean controls.

Interventions: Subjects ingested a liquid meal after fasting ≥10 hours.

Main Outcome Measures: Leptin and BDNF levels in plasma extracted before ingestion and 30', 60', and 120' after ingestion. Hunger, measured on a 100-point visual analogue scale before ingestion and 60' and 120' after ingestion.

Results: Fasting BDNF levels were lower in PWS than in controls (p = 0.05). Postprandially, PWS patients showed only a truncated early peak in BDNF, and their BDNF levels at 60' and 120' were lower compared with lean controls (p<0.05). Leptin was higher in PWS patients than in controls at all time points (p<0.001). PWS patients were hungrier than controls before and after eating. The probability of being hungry was associated with baseline BDNF levels: every 50-unit increment in BDNF decreased the odds of being hungry by 22% (OR: 0.78, 95%CI: 0.65-0.94). In uniparental disomy, the odds of being hungry decreased by 66% (OR: 0.34, 90%CI: 0.13-0.9). Postprandial leptin patterns did no differ among genetic subtypes.

Conclusions: Low baseline BDNF levels and lack of postprandial peak may contribute to persistent hunger after meals. Uniparental disomy is the genetic subtype of PWS least affected by these factors.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0163468PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042477PMC
September 2016

FGF-23/Vitamin D Axis in Type 1 Diabetes: The Potential Role of Mineral Metabolism in Arterial Stiffness.

PLoS One 2015 13;10(10):e0140222. Epub 2015 Oct 13.

Department of Endocrinology and Nutrition, Hospital de Sabadell, Corporació Sanitària i Universitària Parc Taulí (Universitat Autònoma de Barcelona), Sabadell, Spain; Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Instituto de Salud Carlos III, Madrid, Spain.

Objective: To investigate the usefulness of Fibroblast Growth Factor 23 (FGF-23) and vitamin D as possible biomarkers of pre-clinical atherosclerosis, assessed as arterial stiffness (AS), in a group of subjects with type 1 diabetes (T1DM) and no previous cardiovascular events.

Research Design And Methods: 68 T1DM patients and 68 age- and sex-matched controls were evaluated for 1) age, sex, diabetes duration, physical activity, smoking, alcohol intake, BMI, blood pressure, fasting plasma glucose, HbA1c, estimated glomerular filtration rate (eGFR) and lipid profile; 2) microvascular complications; 3) blood concentrations of FGF-23 and mineral metabolism parameters (calcium, phosphate, parathyroid hormone (PTH) and 25-hydroxy-vitamin D (25(OH)D)); 4) AS, assessed as aortic pulse wave velocity (aPWV); and 5) low-grade inflammation (hsCRP, IL-6, sTNFαR1, sTNFαR2) and endothelial dysfunction (ED) markers (ICAM-1, VCAM-1, E-Selectin).

Results: Patients with T1DM had higher aPWV compared with controls (p<0.001), but they did not present differences in 25(OH)D (70.3(50.4-86.2)nmol/L vs. 70.7(59.7-83.0)nmol/L; p = 0.462) and in FGF-23 plasma concentrations (70.1(38.4-151.9)RU/mL vs. 77.6(51.8-113.9)RU/mL; p = 0.329). In T1DM patients, higher concentrations of FGF-23 were positively associated with aPWV after adjusting for eGFR and classical cardiovascular risk factors (model 1: ß = 0.202, p = 0.026), other mineral metabolism parameters (model 2: ß = 0.214, p = 0.015), microvascular complications, low-grade inflammation and ED markers (model 3: ß = 0.170, p = 0.045). Lower 25(OH)D concentrations were also associated with higher aPWV after adjusting for all the above-mentioned factors (model 3: ß = -0.241, p = 0.015).

Conclusions: We conclude that both FGF-23 plasma concentrations (positively) and 25(OH)D serum concentrations (negatively) are associated with AS in patients with T1DM and no previous cardiovascular events.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0140222PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4604080PMC
June 2016

Haptoglobin genotype is associated with increased endothelial dysfunction serum markers in type 1 diabetes.

Eur J Clin Invest 2015 Sep 6;45(9):932-9. Epub 2015 Aug 6.

Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Instituto de Salud Carlos III, Madrid, Spain.

Background: To evaluate the genotype-driven effect of haptoglobin (Hp) in patients with type 1 diabetes without clinical cardiovascular (CV) disease, considering endothelial dysfunction (ED) and arterial stiffness (AS).

Material And Methods: About 137 patients with type 1 diabetes (duration ≥ 5 years) and 68 age- and sex-matched controls were evaluated for the following: (i) smoking, alcohol intake, BMI, blood pressure, fasting plasma glucose, HbA1c and lipid profile; (ii) microvascular complications; (iii) serum markers of ED (ICAM-1, VCAM-1 and E-selectin); (iv) AS, assessed as aortic pulse wave velocity (aPWV); and (v) Hp genotype.

Results: The prevalence of the 1/1, 2/1 and 2/2 Hp genotypes was 28.5%, 46.7% and 24.8% in patients with type 1 diabetes and 20.9%, 38.8% and 40.3% in controls, respectively. No differences were found in classical CV risk factors between patients homozygous for allele 2 and the remaining genotypes, both in patients with type 1 diabetes and controls. Patients with type 1 diabetes carrying the Hp2/2 genotype had higher concentrations of ICAM-1 (65.1 (56.7-76.0) ng/mL vs. 59.0 (51.7-69.3) ng/mL; P = 0.033) and sVCAM-1 (1133.1 (884.6-1458.6) ng/mL vs. 956.4 (738.5-1206.1) ng/mL; P = 0.040) than those without it. The Hp2/2 genotype remained independently associated with ED after adjusting for CV risk factors (P = 0.038). No significant differences were found for aPWV between Hp genotypes.

Conclusions: Endothelial dysfunction may be influenced by Hp2/2 genotype in patients with type 1 diabetes with independence of classical CV risk factors.
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http://dx.doi.org/10.1111/eci.12487DOI Listing
September 2015

Lack of confirmation of thyroid endophenotype in Bipolar Disorder Type I and their first-degree relatives.

Psychoneuroendocrinology 2015 Jan 22;51:351-64. Epub 2014 Oct 22.

Mental Health Department, Corporació Sanitària Parc Taulí, Sabadell, Catalonia, Spain; Department of Psychiatry and Forensic Medicine, Universitat Autònoma of Barcelona, Bellaterra, Catalonia, Spain.

Background: Among the biological factors associated with the development and outcomes in Bipolar Disorder Type I (BD-I), previous studies have highlighted the involvement of both thyroid function and/or auto-immunity, proposing a thyroid endophenotype. The objective of this study was to determine the presence of thyroid alterations in BD-I and their first-degree relatives (FDR).

Methodology: Unselected, cross-sectional case-control study with parallel analysis of individuals affected by BD-I (239), their FD-R (131), and 108 healthy controls. Thyroidal functional abnormalities (TSH and free T4) and thyroidal antibodies (thyroglobulin and thyroperoxidase antibodies) were studied. Assessments were carried out in parallel. The sample was described using arithmetic means, standard deviations, percentages and ranges. Chi-square, Student-t tests, ANOVA and Pearson correlation coefficients were used when indicated.

Results: BD-I on actual and/or ever treated with lithium showed significant thyroidal functional abnormalities as compared to their FD-R and healthy controls. This BD-I subgroup showed a significant greater proportion of subjects suffering from subclinical hypothyroidism (22%). The role of gender/lithium interactions was relevant. The groups did not show differences in terms of positivization of thyroidal antibodies.

Limitations: The crosssectional design and the lack of determination of dietary iodine deficiencies and/or thyroidal ecographical controls may be a drawback.

Conclusions: The present study supports previous findings on the effect of lithium treatment on thyroidal functional, but did not support previous findings related to a familial association or endophenotype. In addition, the present study did not support a familial aggregation of thyroidal antibodies positivization in pedegrees of BD-I.
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http://dx.doi.org/10.1016/j.psyneuen.2014.09.032DOI Listing
January 2015

Topiramate as a Cause of False Positive in the Overnight 1-mg Dexamethasone Suppression Test.

Endocr Pract 2014 Jul;20(7):e116-8

Endocrinology and Nutrition Department, Parc Taulí Sabadell University Hospital. Sabadell, Barcelona, Spain.

Objective: To describe that topiramate may cause a false positive in an overnight 1-mg dexamethasone suppression test (DST) for hypercortisolism screening.

Methods: We present a case in which topiramate induced dexamethasone metabolism, leading to a false positive on the DST.

Results: A 44-year-old female with an incidentally found adenoma in the right adrenal gland underwent a DST for hypercortisolism screening. The patient was taking topiramate prescribed by a psychiatrist for an affective disorder, and insufficient cortisol suppression (11.9 mcg/dL) was observed. Her free cortisol in 24-hour urine was normal, and insufficient suppression was established in a second determination (9.3 mcg/dL). Finally, her psychiatrist switched her treatment from topiramate to bupropion, and the measurements were repeated. When she was not taking topiramate, correct suppression with 1 mg of dexamethasone was obtained (1.7 mcg/dL), and her free cortisol in 24-hour urine was again normal, thereby excluding the presence of hypercortisolism. On reviewing the literature, topiramate was not found to have been previously described as a cause of a false positive on DST, but it was proposed as a cause of hypoadrenalism in a patient taking oral corticosteroid replacement due to its capacity to induce dexamethasone metabolism.

Conclusion: Topiramate treatment may well be a cause of false positives in DSTs, and its presence should be taken into consideration when screening for hypercortisolism.
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http://dx.doi.org/10.4158/EP13485.CRDOI Listing
July 2014

Safety of cabergoline in the management of pituitary prolactin-induced symptoms with patients treated with atypical neuroleptics.

Curr Drug Saf 2012 Apr;7(2):92-8

Department of Psychiatry, Corporació Sanitária i Universitária Parc Taulí, Sabadell, Barcelona, Spain.

Unlabelled: Atypical antipsychotic-induced hyperprolactinemia can cause important clinical symptoms, particularly in young women and also in men, such as impotence, loss of libido, gynecomastia, anovulation and galactorrhea.

Methods: Observational over one-year follow-up of six patients (four women and two men, mean age of 31.1 years, range 26-37), treated with different atypical antipsychotics in an outpatient psychiatric device, who had clinical complications associated to high prolactin serum levels. All of them were treated with standard doses of cabergoline.

Results: Most patients experienced significant clinical improvement after treatment with standard doses of cabergoline (mean dosage 1.08 mg/week), maintained for a mean of 18 month. Normal prolactin levels were achieved after the first months of treatment with cabergoline. No side effects or worsening of psychotic or behavioral symptoms were observed.

Conclusions: Long-term treatment with cabergoline seems to be safe in atypical antipsychotic-treated patients.
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http://dx.doi.org/10.2174/157488612802715753DOI Listing
April 2012

Men with hyperferritinemia and diabetes in the Mediterranean area do not have a higher iron overload than those without diabetes.

Diabetes Res Clin Pract 2011 Feb 4;91(2):e33-6. Epub 2010 Nov 4.

Hospital of Sabadell, Corporació Sanitària i Institut Universitari Parc Taulí (UAB), Sabadell, Spain.

Aim: To assess the role of iron overload in type 2 diabetic men with hyperferritinemia.

Methods: 150 men were recruited from a genetic screening programme for hereditary hemocromatosis (HH) and were tested for type 2 diabetes, other components of the metabolic syndrome, beta cell function (BCF), insulin sensitivity, high-sensitivity C-reactive protein and iron overload.

Results: Fifty-one men had type 2 diabetes. They were older (p=0.017) and 99 had lower BCF (p<0.001) than non-diabetic men. None of the iron overload indexes was associated with diabetes.

Conclusions: Our findings dispute a role of iron overload in the pathogenesis of type 2 diabetes.
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http://dx.doi.org/10.1016/j.diabres.2010.10.003DOI Listing
February 2011

[Peptide YY: a new strategy for the treatment of obesity].

Endocrinol Nutr 2009 Jan 1;56(1):1-3. Epub 2009 Mar 1.

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http://dx.doi.org/10.1016/S1575-0922(09)70186-XDOI Listing
January 2009

Serum soluble transferrin receptor concentrations are increased in central obesity. Results from a screening programme for hereditary hemochromatosis in men with hyperferritinemia.

Clin Chim Acta 2009 Feb 30;400(1-2):111-6. Epub 2008 Oct 30.

Department of Diabetes, Endocrinology and Nutrition, Hospital de Sabadell, Sabadell, Barcelona, Spain.

Background: A decrease in the serum concentrations of the soluble transferrin receptor (sTfR) is considered a good index of tissue iron. Because obesity is associated with hyperferritinemia and this is considered a sign of iron overload, a decrease in sTfR would be expected for the obese. We evaluated whether obese men with hyperferritinemia, detected in a genetic screening programme for hereditary hemochromatosis (HH), have lower serum concentrations of sTfR than their non-obese counterparts.

Methods: 75 men (age: 55.4+/-12.4 years) with hyperferritinemia (serum ferritin--SF > 200 microg/L) and no known conditions of iron overload were evaluated for body mass index (BMI), waist circumference (WC), blood pressure, traditional indices of iron status, sTfR, fasting plasma glucose, lipid profile, insulin resistance (HOMA-IR), highly-sensitive C-reactive protein, hepatic enzymes and HFE gene mutations of HH.

Results: sTfR correlated with BMI (r=0.289; p=0.014) and with WC (r=0.420; p<0.001). Thirty-two subjects were obese (BM > or = 30 kg/m(2)) and had a significantly higher sTfR (2.95 (2.22-3.28) vs 2.28 (1.88-2.91) mg/L; p=0.013), hemoglobin (157+/-12 vs 152+/-11 gr/L; p=0.049) and HOMA-IR (1.38 (1.04-2.69) vs 1.02 (0.60-1.55) mg/L; p=0.009) than the non-obese. WC explained separately more variability of the sTfR than BMI (r(2)=0.177; p=0.002 and r=0.077; p=0.042, respectively), after adjusting for potential confounders.

Conclusion: An increase in serum concentrations of sTfR is associated with central obesity in men with hyperferritinemia.
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http://dx.doi.org/10.1016/j.cca.2008.10.019DOI Listing
February 2009

[Is diabetes mellitus a coronary heart disease equivalent? Results of a meta-analysis of prospective studies].

Rev Esp Cardiol 2007 Nov;60(11):1167-76

Servicio de Diabetes, Endocrinología y Nutrición, Hospital de Sabadell, Sabadell, Barcelona, España.

Introduction And Objectives: Several guidelines on the treatment of cardiovascular risk factors base their recommendations on the assertion that diabetes mellitus (DM) is a coronary heart disease (CHD) or cardiovascular disease (CVD) risk equivalent. To date, no systematic review of studies substantiating this assertion has been carried out.

Methods: A systematic search of the PubMed database up to February 2006 was performed to identify prospective studies meeting the following criteria: a) follow-up was >5 years; b) groups of subjects with DM and without CHD (i.e., DM+CHD-), without DM and with CHD (DM-CHD+), and without either DM or CHD (DM-CHD-) were all included; and c) data on CHD or CVD mortality was reported. The characteristics of the studies were assessed, and data were combined separately for men and women using a random effects model and taking the DM-CHD- group as a reference.

Results: In total, 13 studies met the inclusion criteria. Overall, CHD mortality was non-significantly lower in DM+CHD- men than in DM-CHD+ men, hazard ratio [HR] (95% confidence interval [CI]), 3.06 (2.45-3.83) vs 4.28 (3.24-5.66), respectively (P=.066); as was CVD mortality, HR (95% CI), 2.55 (2.00-3.26) vs 3.61 (2.81-4.62), respectively (P=.051). In women, there was no significant difference between the DM+CHD- and DM-CHD+ groups with regard to either CHD mortality, HR (95% CI), 4.68 (3.40-6.45) vs 3.51 (1.75-7.04), respectively (P=.42), or CVD mortality, HR (95% CI), 4.70 (4.23-5.22) vs 3.39 (1.51-9.02), respectively (P=.59).

Conclusions: The findings of this meta-analysis support the view that women in the DM+CHD- group have similar CHD and CVD mortality to those in the DM-CHD+ group, whereas men in the DM+CHD- group demonstrated a non-significant trend towards lower CHD and CVD mortality than those in the DM-CHD+ group.
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November 2007

A lesser postprandial suppression of plasma ghrelin in Prader-Willi syndrome is associated with low fasting and a blunted postprandial PYY response.

Clin Endocrinol (Oxf) 2007 Feb;66(2):198-204

Unit of Diabetes Endocrinology and Nutrition, Hospital de Sabadell, Sabadell, Spain.

Objective: Ghrelin and polipeptide YY (PYY) are involved in the regulation of food intake. We evaluated these two peptides and their possible relationship in adult patients with Prader-Willi syndrome (PWS).

Patients: Seven patients with PWS, 16 age-sex-BMI matched obese and 42 age-sex matched lean subjects.

Design And Measurements: Fasting plasma PYY and ghrelin levels were measured in all subjects and, postprandially until 6 h, in seven matched subjects of each group.

Results: Fasting ghrelin levels were higher in PWS than in the other two groups. Fasting PYY levels were lower in patients with PWS than in lean subjects but similar to those in obese subjects. The postprandial decrease in ghrelin concentrations was lower in PWS as compared to the other two groups and therefore the 6-h-postprandial area under the curve (AUC) for ghrelin was higher in PWS than in obese subjects. PYY response after the meal was blunted in patients with PWS, but not in the other two groups that showed a peak at 60 min The AUC for PYY was lower in PWS as compared to the other two groups. Fasting PYY levels correlated negatively with fasting ghrelin levels and with ghrelin AUC and they were the only predictor for ghrelin AUC (beta = -0.464, P = 0.034). The increase in PYY correlated negatively with the decrease in ghrelin at times 60 min and 120 min in PWS.

Conclusions: In PWS, the low decrease in postprandial ghrelin levels could be related to the low fasting PYY concentrations and their blunted postprandial response.
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http://dx.doi.org/10.1111/j.1365-2265.2006.02707.xDOI Listing
February 2007

Postprandial adiponectin levels are unlikely to contribute to the pathogenesis of obesity in Prader-Willi syndrome.

Horm Res 2006 22;65(1):39-45. Epub 2005 Dec 22.

Diabetes Endocrinology and Nutrition Unit, Hospital de Sabadell, and UDIAT, Institut Universitari Parc Taulí, Sabadell, Spain.

Aim: To investigate fasting and postprandial adiponectin levels in PWS patients as compared to obese and lean subjects and whether they could contribute to the pathogenesis of obesity in this syndrome.

Methods: We studied 7 patients with PWS, 16 obese patients and 42 lean subjects for the fasting study. From this group, we evaluated 7 patients with PWS, 7 age-sex-BMI-matched obese non-PWS patients and 7 age-sex-matched lean subjects before and after the administration of 3,139.5 kJ (750 kcal) of a standard liquid meal (53.2% carbohydrate, 30% fat, 16.7% protein) after an overnight fast. Blood samples were obtained every 15 min for the first hour and every 30 min thereafter until 6 h. Adiponectin, IGF-I, glucose, triglycerides, cholesterol, and insulin were measured.

Results: Fasting plasma adiponectin levels were lower in PWS than in lean subjects (5.24+/-2.56 vs. 8.28+/-4.63 microg/ml, p=0.041) but higher than in obese patients (4.01+/-1.27 microg/ml, p=0.047). After the meal, adiponectin concentrations mildly decreased in PWS at time point 240 min, while in obese and lean subjects no changes were observed. However, 6-hour postprandial AUC for adiponectin was similar in all three groups.

Conclusion: Fasting adiponectin levels are low in PWS, but they are so mildly modulated postprandially that these changes do not seem significant for the pathogenesis of obesity in this syndrome.
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http://dx.doi.org/10.1159/000090513DOI Listing
March 2006

[Low reporting of clinical characteristics of patients with diabetes mellitus included in the main clinical trials on hypertension].

Med Clin (Barc) 2005 Jul;125(5):173-8

Grupo de Riesgo Cardiovascular, Servicio de Diabetes, Endocrinología y Nutrición, Hospital de Sabadell, Sabadell, Barcelona, Spain.

Background And Objective: Subjects with diabetes mellitus (DM) are at high risk of cardiovascular events. However, their cardiovascular risk varies according to several clinical characteristics like age, sex, ethnicity, type and duration of the DM, quality of glycemic control, type of hypoglycemic treatment, or the presence of nephropathy or previous cardiovascular events. It is not known if these characteristics have been sufficiently reported in clinical trials on hypertension including subjects with DM.

Material And Method: We analyzed randomized controlled clinical trials about treatment of hypertension published before May 2003 with the following characteristics: a) inclusion of subjects with DM and b) a primary end-point including at least one of the following events: myocardial infarction, cerebrovascular disease or total mortality. In these trials we evaluated the above-mentioned clinical characteristics concerning cardiovascular risk.

Results: Sixteen trials were eventually analyzed. These trials were classified into: a) trials designed only for subjects with DM (RENAAL, UKPDS 38, UKPDS 39, IDNT); b) trials with a subgroup analysis for subjects with DM (SHEP, Syst-Eur, MICRO-HOPE, HOT, STOP-2, LIFE), and c) trials without a subgroup analysis for subjects with DM (CAPP, NORDIL, INSIGHT, ALLHAT, SANBPSG, CONVINCE). All these trials included a total of 33984 subjects with DM, most of them > or = 55 years old. The percentage of women evaluated ranged from 33.5 to 71.9% although in 2 trials no data were found regarding this percentage (12.5%). There was no information on ethnicity in 10 trials (62.5%), on the type of DM in 7 (43.8%), on the duration of the disease in 13 (81.3%), on the degree of glycemic control in 10 (62.5%), on the type of hypoglycemic treatment in 11 (68.8%), on the presence or absence of nephropathy in 11 (68.8%) and on the presence or absence of previous cardiovascular events in 3 (18.8%). Trials without subgroup analysis for subjects with DM had a lower reporting of the clinical characteristics of the subjects evaluated than the rest of the trials.

Conclusions: The reporting of relevant clinical characteristics of cardiovascular risk in subjects with DM in the main clinical trials on hypertension is low, diminishing their external validity. To optimize the therapeutic recommendations in the treatment of hypertension in DM these deficiencies should be overcome.
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http://dx.doi.org/10.1157/13077140DOI Listing
July 2005

Circulating ghrelin in thyroid dysfunction is related to insulin resistance and not to hunger, food intake or anthropometric changes.

Eur J Endocrinol 2005 Jul;153(1):73-9

Unit of Diabetes Endocrinology and Nutrition, Hospital de Sabadell, Sabadell, Spain.

Objective: Ghrelin is a gastric peptide that plays a role in appetite stimulation, energy balance and possibly in insulin resistance. Hyperthyroidism is a situation where negative energy balance and insulin resistance coexist, while in hypothyroidism a positive energy balance and normal insulin sensitivity predominate. We investigated ghrelin levels and their relationship with hunger, food intake and both anthropometric and insulin resistance parameters in patients with thyroid dysfunction.

Design And Methods: We studied 24 hyperthyroid and 17 hypothyroid patients before and after normalisation of thyroid hormone levels and their respective body mass index (BMI)-matched control group. We measured plasma ghrelin levels, homeostasis model assessment of insulin resistance (HOMA-IR) index, a hunger score, mean three-day calorie intake and anthropometric parameters.

Results: In hyperthyroidism, HOMA-IR index was higher (3.21 +/- 0.60 vs 1.67 +/- 0.15 mMmU/l; P = 0.014, t test for independent data) and ghrelin levels were lower (463.6 +/- 36.4 vs 561.1 +/- 32.1 pg/ml; P = 0.041, Mann-Whitney U-test) than in its control group and both normalised after treatment (HOMA-IR: 2.28 +/- 0.38 mMmU/l; P = 0.106, t test for independent data, and ghrelin: 539.7 +/- 45.4 pg/ml; P = 0.549, Mann-Whitney U-test). Glucose, as a component of HOMA-IR index was the only predictor for ghrelin levels (beta = -0.415, P = 0.044, stepwise multiple regression analysis). In hypothyroidism, HOMA-IR index and ghrelin levels were similar to those in its control group both before and after treatment. In both thyroid dysfunction states, no correlations were observed between changes in ghrelin levels and in free T4, free T3, anthropometric parameters, total calorie intake and hunger score.

Conclusions: In thyroid dysfunction states, ghrelin levels seemed to be in relation to insulin resistance and not to energy balance and food intake regulation, as seen in other physiological and pathological states.
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http://dx.doi.org/10.1530/eje.1.01934DOI Listing
July 2005