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  1. Article: Adrenocorticotropic Hormone-Dependent Cushing Syndrome Caused by an Olfactory Neuroblastoma.

    Familiar, Cristina / Azcutia, Ane

    Clinical medicine insights. Endocrinology and diabetes

    2019  Volume 12, Page(s) 1179551419825832

    Abstract: Olfactory neuroblastoma (ONB) is an unusual malignant neoplasm originating from the olfactory neuroepithelium. Secretion of adrenocorticotropic hormone (ACTH) from this tumor has been exceptionally reported. We describe a young man with resistant ... ...

    Abstract Olfactory neuroblastoma (ONB) is an unusual malignant neoplasm originating from the olfactory neuroepithelium. Secretion of adrenocorticotropic hormone (ACTH) from this tumor has been exceptionally reported. We describe a young man with resistant hypertension and a cushingoid phenotype. After hormonal confirmation of an ACTH-dependent Cushing syndrome, non-invasive dynamic tests were carried out to evaluate the cause of the ACTH source. Plasma cortisol decrease after a high-dose dexamethasone suppression test and cortisol increase after a desmopressin (DDAVP) stimulation test suggested a Cushing disease. A magnetic resonance image (MRI) of the brain and an Indium-111 octreotide scan revealed a large mass centered in the sphenoid sinus with lateral and posterior extension. An ACTH secreting ONB was confirmed with a trasnasal biopsy. Patient was offered a combined therapy with surgical resection and radiotherapy but refused surgery. The neoplasm was treated with neoadjuvant cisplatin-based chemotherapy followed by fractionated radiotherapy. Hypercortisolism initially improved with metyrapone but normocortisolism was only achieved after local control of the tumor with radiotherapy. Clinical presentation of ONB is usually related to local symptoms (as nasal obstruction and epistaxis) dependent on its ubication and extension. Cushing syndrome from ACTH production is a rare manifestation of ONB. This case also underlies the difficulties related to the interpretation of dynamic endocrine tests in Cushing syndrome.
    Language English
    Publishing date 2019-01-31
    Publishing country United States
    Document type Case Reports
    ISSN 1179-5514
    ISSN 1179-5514
    DOI 10.1177/1179551419825832
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Prevalence and clinical significance in our setting of incidental uptake in the thyroid gland found on 18F-fluordeoxyglucose positron emission tomography-computed tomography (PET-CT).

    Familiar, Cristina / Merino, Salomé / Valhondo, Raquel / López, Celia / Pérez, Xavier / De Los Monteros, Patricia Espinosa / Hernández, Fernando / Pazos, Mario / Pallarés, Raquel / Pascual, Alfonso Calle

    Endocrinologia, diabetes y nutricion

    2023  Volume 70, Issue 3, Page(s) 171–178

    Abstract: Introduction: The expanding use of 18F-fluorodeoxyglucose (FDG) positron emission tomography-computed tomography (PET-CT) has resulted in an increased frequency of incidentally discovered areas of FDG uptake within the thyroid gland. In these ... ...

    Abstract Introduction: The expanding use of 18F-fluorodeoxyglucose (FDG) positron emission tomography-computed tomography (PET-CT) has resulted in an increased frequency of incidentally discovered areas of FDG uptake within the thyroid gland. In these incidentalomas, high malignancy rates are reported. The study aimed, on the one hand, to determine the prevalence in our setting of thyroid incidentalomas in patients with no previous history of thyroid cancer undergoing an FDG PET-CT as well as the risk of malignancy and, on the other hand, to evaluate the usefulness of the maximum standard uptake value (SUVmax) for detecting thyroid cancer.
    Material and methods: The FDG PET-CT scans performed at our hospital between June 2013 and December 2020 were retrospectively reviewed. In those incidentalomas with sufficient additional investigation, a diagnosis of benign or malignant was established based on the complementary tests.
    Results: From the 21,594 PET-CT scans performed, 398 (1.8%) patients had an incidental FDG uptake, either focal (n=324) or diffuse (n=74). Among incidentalomas with further investigation, the rate of malignancy was higher in patients with focal FDG uptake than in those with diffuse uptake (26.5% versus 4%, respectively, p<0.05). The SUVmax value was significantly lower in benign focal lesions (5.7 [range: 2.3-66] than in malignant ones 10.6 [range: 3.1-51.2]; p<0.05). Nearly a quarter of malignant diagnoses (23.3%) were related to potentially aggressive tumours.
    Conclusion: The high rate of malignant tumours found among PET-CT incidentalomas and the high proportion of aggressive tumours demonstrate the need for a standardised approach in the investigation of incidental focal FDG uptake in the thyroid gland.
    MeSH term(s) Humans ; Positron Emission Tomography Computed Tomography ; Fluorodeoxyglucose F18 ; Retrospective Studies ; Prevalence ; Clinical Relevance ; Incidental Findings ; Thyroid Neoplasms/diagnostic imaging ; Thyroid Neoplasms/epidemiology
    Chemical Substances Fluorodeoxyglucose F18 (0Z5B2CJX4D)
    Language English
    Publishing date 2023-03-17
    Publishing country Spain
    Document type Journal Article
    ISSN 2530-0180
    ISSN (online) 2530-0180
    DOI 10.1016/j.endien.2023.03.001
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  3. Article ; Online: How should we define cure after parathyroidectomy for normocalcemic primary hyperparathyroidism? A retrospective cohort study.

    Cano-Valderrama, Oscar / Ochagavía, Santiago / Sanabria, Concepción / Familiar, Cristina / Díaz, Jesús / Picazo, Sara / Sáez-Carlin, Patricia / Torres, Antonio J

    Updates in surgery

    2021  Volume 73, Issue 6, Page(s) 2293–2299

    Abstract: Cure after surgery for normocalcemic primary hyperparathyroidism (NHPT) is defined as parathyroid hormone (PTH) normalization. However, an increase of PTH is frequently observed in cured patients with hypercalcemic primary hyperparathyroidism (HHPT). ... ...

    Abstract Cure after surgery for normocalcemic primary hyperparathyroidism (NHPT) is defined as parathyroid hormone (PTH) normalization. However, an increase of PTH is frequently observed in cured patients with hypercalcemic primary hyperparathyroidism (HHPT). Therefore, this criterion must be redefined. A single-center retrospective study was performed including all patients who underwent surgery for Primary Hyperparathyroidism from 2013 to 2019. Cure rates of different types of hyperparathyroidism were analyzed. PTH reduction was studied as a possible criterion to define cure in patients with NHPT. One-hundred and eighty-six patients were included: 173 with HHPT and 13 with NHPT. After a mean follow-up of 33.4 months, 174 (93.6%) patients were considered cured. Cure was more frequent in the group of patients with HHPT (97.1% vs. 46.2%, p < 0.001). In the multivariate analysis, surgical failure was associated with NHPT and multiglandular disease. Forty-nine (30.1%) cured patients with HHPT had an increased PTH during the follow-up. When decline of PTH levels was studied in patients with HHPT to define cure, the area under curve was 0.92. A cut-off value of 40% in PTH reduction achieved a sensitivity and specificity of 83.4% and 80.0%. If cure was defined as a 40% reduction of PTH, cure rate in the group of patients with NHPT would increase to 69.2%. Patients with NHPT had a lower cure rate than patients with HHPT. A significant number of cured patients with HHPT had an increased PTH during follow-up. A 40% reduction in PTH levels is proposed as an alternative definition for cure in patients with NHPT.
    MeSH term(s) Calcium ; Humans ; Hyperparathyroidism, Primary/surgery ; Parathyroid Hormone ; Parathyroidectomy ; Retrospective Studies
    Chemical Substances Parathyroid Hormone ; Calcium (SY7Q814VUP)
    Language English
    Publishing date 2021-06-07
    Publishing country Italy
    Document type Journal Article
    ZDB-ID 2572692-4
    ISSN 2038-3312 ; 2038-131X
    ISSN (online) 2038-3312
    ISSN 2038-131X
    DOI 10.1007/s13304-021-01108-1
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  4. Article ; Online: A Simplified Screening Model to Predict the Risk of Gestational Diabetes Mellitus in Caucasian and Latin American Pregnant Women.

    Arnoriaga-Rodríguez, María / Serrano, Irene / Paz, Mateo / Barabash, Ana / Valerio, Johanna / Del Valle, Laura / O'Connors, Rocio / Melero, Verónica / de Miguel, Paz / Diaz, Ángel / Familiar, Cristina / Moraga, Inmaculada / Pazos-Guerra, Mario / Martínez-Novillo, Mercedes / Rubio, Miguel A / Marcuello, Clara / Ramos-Leví, Ana / Matia-Martín, Pilar / Calle-Pascual, Alfonso L

    Genes

    2024  Volume 15, Issue 4

    Abstract: The pathophysiology of gestational diabetes mellitus (GDM) comprises clinical and genetic factors. In fact, GDM is associated with several single nucleotide polymorphisms (SNPs). This study aimed to build a prediction model of GDM combining clinical and ... ...

    Abstract The pathophysiology of gestational diabetes mellitus (GDM) comprises clinical and genetic factors. In fact, GDM is associated with several single nucleotide polymorphisms (SNPs). This study aimed to build a prediction model of GDM combining clinical and genetic risk factors. A total of 1588 pregnant women from the San Carlos Cohort participated in the present study, including 1069 (67.3%) Caucasian (CAU) and 519 (32.7%) Latin American (LAT) individuals, and 255 (16.1%) had GDM. The incidence of GDM was similar in both groups (16.1% CAU and 16.0% LAT). Genotyping was performed via IPLEX Mass ARRAY PCR, selecting 110 SNPs based on literature references. SNPs showing the strongest likelihood of developing GDM were rs10830963, rs7651090, and rs1371614 in CAU and rs1387153 and rs9368222 in LAT. Clinical variables, including age, pre-pregnancy body mass index, and fasting plasma glucose (FPG) at 12 gestational weeks, predicted the risk of GDM (AUC 0.648, 95% CI 0.601-0.695 in CAU; AUC 0.688, 95% CI 0.628-9.748 in LAT), and adding SNPs modestly improved prediction (AUC 0.722, 95%CI 0.680-0.764 in CAU; AUC 0.769, 95% CI 0.711-0.826 in LAT). In conclusion, adding genetic variants enhanced the prediction model of GDM risk in CAU and LAT pregnant women.
    MeSH term(s) Humans ; Diabetes, Gestational/genetics ; Diabetes, Gestational/epidemiology ; Female ; Pregnancy ; Polymorphism, Single Nucleotide ; White People/genetics ; Adult ; Risk Factors ; Latin America/epidemiology ; Genetic Predisposition to Disease ; Blood Glucose ; Body Mass Index
    Chemical Substances Blood Glucose
    Language English
    Publishing date 2024-04-11
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes15040482
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  5. Article ; Online: The Relationship between Serum Adipokines, miR-222-3p, miR-103a-3p and Glucose Regulation in Pregnancy and Two to Three Years Post-Delivery in Women with Gestational Diabetes Mellitus Adhering to Mediterranean Diet Recommendations.

    Valerio, Johanna / Barabash, Ana / Garcia de la Torre, Nuria / De Miguel, Paz / Melero, Verónica / Del Valle, Laura / Moraga, Inmaculada / Familiar, Cristina / Durán, Alejandra / Torrejón, Maria Jose / Diaz, Angel / Jiménez, Inés / Matia, Pilar / Rubio, Miguel Angel / Calle-Pascual, Alfonso Luis

    Nutrients

    2022  Volume 14, Issue 22

    Abstract: The San Carlos Gestational Diabetes Mellitus (GDM) prevention study, a nutritional intervention RCT based on a Mediterranean Diet (MedDiet), has been shown to reduce the incidence of GDM. The objective of this study is to investigate the relationship of ... ...

    Abstract The San Carlos Gestational Diabetes Mellitus (GDM) prevention study, a nutritional intervention RCT based on a Mediterranean Diet (MedDiet), has been shown to reduce the incidence of GDM. The objective of this study is to investigate the relationship of leptin, adiponectin, interleukin-6 (IL-6), tumour necrosis factor-alpha (TNF-α), insulin and HOMA-IRand circulating miRNAs (miR-29a-3p, miR-103a-3p, miR-132-3p, miR-222-3p) with the appearance of GDM and with MedDiet-based nutritional intervention, at 24−28 gestational weeks (GW), and in glucose regulation 2−3 years post-delivery (PD). A total of 313 pregnant women, 77 with GDM vs. 236 with normal glucose tolerance (NGT), 141 from the control group (CG, MedDiet restricting the consumption of dietary fat including EVOO and nuts during pregnancy) vs. 172 from the intervention group (IG, MedDiet supplemented with extra virgin olive oil (EVOO) and pistachios during pregnancy) were compared at Visit 1 (8−12 GW), Visit 2 (24−28 GW) and Visit 3 (2−3 years PD). Expression of miRNAs was determined by the Exiqon miRCURY LNA RT-PCR system. Leptin, adiponectin, IL-6 and TNF-α, were measured by Milliplex® immunoassays on Luminex 200 and insulin by RIA. Women with GDM vs. NTG had significantly higher leptin median (Q1−Q3) levels (14.6 (9.2−19.4) vs. 9.6 (6.0−15.1) ng/mL; p < 0.05) and insulin levels (11.4 (8.6−16.5) vs. 9.4 (7.0−12.8) µUI/mL; p < 0.001) and lower adiponectin (12.9 (9.8−17.2) vs. 17.0 (13.3−22.4) µg/mL; p < 0.001) at Visit 2. These findings persisted in Visit 3, with overexpression of miR-222-3p (1.45 (0.76−2.21) vs. 0.99 (0.21−1.70); p < 0.05)) and higher levels of Il-6 and TNF-α. When the IG is compared with the CG lower levels of insulin, HOMA-IR-IR, IL-6 levels at Visit 2 and 3 and leptin levels only at Visit 2 were observed. An overexpression of miR-222-3p and miR-103a-3p were also observed in IG at Visit 2 and 3. The miR-222-3p and miR103a-3p expression correlated with insulin levels, HOMA-IR, IL-6 and TNF-α at Visit 2 (all p < 0.05). These data support the association of leptin, adiponectin and insulin/HOMA-IR with GDM, as well as the association of insulin/HOMA-IR and IL-6 and miR-222-3p and miR-103a-3p expression with a MedDiet-based nutritional intervention.
    MeSH term(s) Pregnancy ; Female ; Humans ; Adipokines ; Diabetes, Gestational ; Leptin ; Glucose ; Diet, Mediterranean ; Adiponectin ; Interleukin-6 ; Tumor Necrosis Factor-alpha ; Insulin ; MicroRNAs/genetics ; Olive Oil
    Chemical Substances Adipokines ; Leptin ; Glucose (IY9XDZ35W2) ; Adiponectin ; Interleukin-6 ; Tumor Necrosis Factor-alpha ; Insulin ; MicroRNAs ; Olive Oil ; MIRN222 microRNA, human
    Language English
    Publishing date 2022-11-08
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2518386-2
    ISSN 2072-6643 ; 2072-6643
    ISSN (online) 2072-6643
    ISSN 2072-6643
    DOI 10.3390/nu14224712
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  6. Article ; Online: An Early Mediterranean-Based Nutritional Intervention during Pregnancy Reduces Metabolic Syndrome and Glucose Dysregulation Rates at 3 Years Postpartum.

    Melero, Verónica / Arnoriaga, Maria / Barabash, Ana / Valerio, Johanna / Del Valle, Laura / Martin O'Connor, Rocio / de Miguel, Maria Paz / Diaz, Jose Angel / Familiar, Cristina / Moraga, Inmaculada / Duran, Alejandra / Cuesta, Martín / Torrejon, María José / Martinez-Novillo, Mercedes / Moreno, Maria / Romera, Gisela / Runkle, Isabelle / Pazos, Mario / Rubio, Miguel A /
    Matia-Martín, Pilar / Calle-Pascual, Alfonso Luis

    Nutrients

    2023  Volume 15, Issue 14

    Abstract: A Mediterranean diet (MedDiet)-based intervention reduces the rate of immediate postpartum maternal metabolic disorders. Whether these effects persist long-term remains to be determined. A total of 2526 normoglycemic women were randomized before the 12th ...

    Abstract A Mediterranean diet (MedDiet)-based intervention reduces the rate of immediate postpartum maternal metabolic disorders. Whether these effects persist long-term remains to be determined. A total of 2526 normoglycemic women were randomized before the 12th gestational week (GW). IG women followed a MedDiet with extra virgin olive oil (EVOO) (>40 mL/day) and a handful of nuts daily, whereas CG women had to restrict all kinds of dietary fat. At 3 months postpartum, a motivational lifestyle interview was held. The endpoint of the study evaluated the rate of abnormal glucose regulation (AGR) and metabolic syndrome (MetS) at 3 years postpartum in women of the San Carlos cohort. A total of 369/625 (59%) CG women and 1031/1603 (64.3%) IG women were finally analyzed. At 3 months and 3 years postdelivery, the IG women showed higher adherence to the MedDiet, which was associated with lower values of body mass index (BMI) and lipid and glycemic profiles. Body weight change and waist circumference were lower in the IG women. After applying multiple regression analysis, the ORs (95%CI) resulted in AGR (3.18 (2.48-4.08);
    MeSH term(s) Pregnancy ; Humans ; Female ; Metabolic Syndrome/epidemiology ; Metabolic Syndrome/prevention & control ; Glucose ; Postpartum Period ; Diet, Mediterranean ; Olive Oil
    Chemical Substances Glucose (IY9XDZ35W2) ; Olive Oil
    Language English
    Publishing date 2023-07-22
    Publishing country Switzerland
    Document type Randomized Controlled Trial ; Journal Article
    ZDB-ID 2518386-2
    ISSN 2072-6643 ; 2072-6643
    ISSN (online) 2072-6643
    ISSN 2072-6643
    DOI 10.3390/nu15143252
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  7. Article ; Online: Modifiable Risk Factors and Trends in Changes in Glucose Regulation during the First Three Years Postdelivery: The St Carlos Gestational Diabetes Mellitus Prevention Cohort.

    Arnoriaga-Rodriguez, Maria / Melero, Verónica / Barabash, Ana / Valerio, Johanna / Del Valle, Laura / O'Connor, Rocio Martin / de Miguel, Paz / Diaz, José A / Familiar, Cristina / Moraga, Inmaculada / Duran, Alejandra / Jimenez, Inés / Cuesta, Martín / Torrejon, María José / Martinez-Novillo, Mercedes / Runkle, Isabelle / Pazos, Mario / Rubio, Miguel A / Matia-Martín, Pilar /
    Calle-Pascual, Alfonso L

    Nutrients

    2023  Volume 15, Issue 23

    Abstract: Objective: Evaluation of the influence of potential risk factors (RFs) on glycemic changes at 3 years postpartum.: Methods: The glycemic status of 1400 women, in absence of a new pregnancy, was evaluated at 3 months (3 m) and 3 years (3 y) postpartum, ...

    Abstract Objective: Evaluation of the influence of potential risk factors (RFs) on glycemic changes at 3 years postpartum.
    Methods: The glycemic status of 1400 women, in absence of a new pregnancy, was evaluated at 3 months (3 m) and 3 years (3 y) postpartum, after participation in the St. Carlos Gestational Study (2228 normoglycemic pregnant women followed from before gestational week 12 to delivery, from 2015-2017). Abnormal glucose regulation (AGR) was defined as fasting serum glucose ≥ 100 mg/dL and/or HbA1c ≥ 5.7% and/or 2 h 75 g OGTT glucose ≥ 140 mg/dL. In total, 12 modifiable and 3 unmodifiable RFs were analyzed.
    Results: 3 m postpartum, 110/1400 (7.9%) women had AGR; 3 y postpartum, 137 (9.8%) women exhibited AGR (110 with 3 m normal glucose tolerance [NGT]); 1263 (90.2%) had NGT (83 with 3 m AGR). More women with gestational diabetes mellitus (GDM) progressed to AGR at 3 y (OR: 1.60 [1.33-1.92]) than women without GDM. Yet, most women with 3 m and/or 3 y AGR had no GDM history. Having ≥2 unmodifiable RFs was associated with increased risk for progression to AGR (OR: 1.90 [1.28-2.83]) at 3 y postpartum. Having >5/12 modifiable RFs was associated with increased progression from NGT to AGR (OR: 1.40 [1.00-2.09]) and AGR persistence (OR: 2.57 [1.05-6.31]). Pregestational BMI ≥ 25 kg/m
    Conclusions: 3-month and/or 3-year postpartum AGR can be detected if sought in women with no prior GDM. Modifiable and unmodifiable RF predictors of AGR at 3 y postpartum were identified. Universal screening for glycemic alterations should be considered in all women following delivery, regardless of prior GDM. These findings could be useful to design personalized strategies in women with risk factors for 3 y AGR.
    MeSH term(s) Pregnancy ; Female ; Humans ; Male ; Diabetes, Gestational/epidemiology ; Diabetes, Gestational/prevention & control ; Glucose ; Glucose Intolerance ; Glucose Tolerance Test ; Postpartum Period/physiology ; Risk Factors ; Blood Glucose
    Chemical Substances Glucose (IY9XDZ35W2) ; Blood Glucose
    Language English
    Publishing date 2023-12-01
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2518386-2
    ISSN 2072-6643 ; 2072-6643
    ISSN (online) 2072-6643
    ISSN 2072-6643
    DOI 10.3390/nu15234995
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  8. Article ; Online: Consumption of health resources in older people with differentiated thyroid carcinoma: a multicenter analysis.

    Díez, Juan J / Anda, Emma / Alcazar, Victoria / Isidro, María L / Familiar, Cristina / Paja, Miguel / Martín Rojas-Marcos, Patricia / Pérez-Corral, Begoña / Navarro, Elena / Romero-Lluch, Ana R / Oleaga, Amelia / Pamplona, María J / Fernández-García, José C / Megía, Ana / Manjón-Miguélez, Laura / Sánchez-Ragnarsson, Cecilia / Iglesias, Pedro / Sastre, Julia

    Endocrine

    2023  Volume 81, Issue 3, Page(s) 521–531

    Abstract: Objective: There is hardly any information on the consumption of healthcare resources by older people with differentiated thyroid cancer (DTC). We analyzed these consumptions in older patients with DTC and compared patients 75 years and older with ... ...

    Abstract Objective: There is hardly any information on the consumption of healthcare resources by older people with differentiated thyroid cancer (DTC). We analyzed these consumptions in older patients with DTC and compared patients 75 years and older with subjects aged 60-74 years.
    Methods: A multicenter, retrospective analysis was designed. We recorded three groups of health resources consumption (visits, diagnostic procedures, and therapeutic procedures) and identified a subgroup of patients with high consumption of resources. We compared patients aged between 60-74 years (group 1) with patients aged 75 and over (group 2).
    Results: We included 1654 patients (women, 74.4%), of whom 1388 (83.9%) belonged to group 1 and 266 (16.1%) to group 2. In group 2, we found a higher proportion of patients requiring emergency department visits (7.9 vs. 4.3%, P = 0.019) and imaging studies (24.1 vs. 17.3%; P = 0.012) compared to group 1. However, we did not find any significant difference between both groups in the consumption of other visits, diagnostic procedures, or therapeutic procedures. Overall, 340 patients (20.6%) were identified as high consumers of health resources, 270 (19.5%) in group 1 and 70 (26.3%) in group 2 (P = 0.013). Multivariate logistic regression analysis showed that the risk of recurrence and mortality, radioiodine treatment, tumor size, and vascular invasion were significantly related to the high global consumption of resources. However, the age was not significantly related to it.
    Conclusion: In patients with DTC over 60 years of age, advanced age is not an independent determining factor in the consumption of health resources.
    MeSH term(s) Humans ; Female ; Middle Aged ; Aged ; Retrospective Studies ; Iodine Radioisotopes/therapeutic use ; Thyroid Neoplasms/pathology ; Adenocarcinoma/drug therapy ; Thyroidectomy/methods
    Chemical Substances Iodine Radioisotopes
    Language English
    Publishing date 2023-04-27
    Publishing country United States
    Document type Multicenter Study ; Journal Article
    ZDB-ID 1194484-5
    ISSN 1559-0100 ; 1355-008X ; 0969-711X
    ISSN (online) 1559-0100
    ISSN 1355-008X ; 0969-711X
    DOI 10.1007/s12020-023-03369-9
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  9. Article: Genetic variants for prediction of gestational diabetes mellitus and modulation of susceptibility by a nutritional intervention based on a Mediterranean diet.

    Ramos-Levi, Ana / Barabash, Ana / Valerio, Johanna / García de la Torre, Nuria / Mendizabal, Leire / Zulueta, Mirella / de Miguel, Maria Paz / Diaz, Angel / Duran, Alejandra / Familiar, Cristina / Jimenez, Inés / Del Valle, Laura / Melero, Veronica / Moraga, Inmaculada / Herraiz, Miguel A / Torrejon, María José / Arregi, Maddi / Simón, Laureano / Rubio, Miguel A /
    Calle-Pascual, Alfonso L

    Frontiers in endocrinology

    2022  Volume 13, Page(s) 1036088

    Abstract: Hypothesis: Gestational diabetes mellitus (GDM) entails a complex underlying pathogenesis, with a specific genetic background and the effect of environmental factors. This study examines the link between a set of single nucleotide polymorphisms (SNPs) ... ...

    Abstract Hypothesis: Gestational diabetes mellitus (GDM) entails a complex underlying pathogenesis, with a specific genetic background and the effect of environmental factors. This study examines the link between a set of single nucleotide polymorphisms (SNPs) associated with diabetes and the development of GDM in pregnant women with different ethnicities, and evaluates its potential modulation with a clinical intervention based on a Mediterranean diet.
    Methods: 2418 women from our hospital-based cohort of pregnant women screened for GDM from January 2015 to November 2017 (the San Carlos Cohort, randomized controlled trial for the prevention of GDM ISRCTN84389045 and real-world study ISRCTN13389832) were assessed for evaluation. Diagnosis of GDM was made according to the International Association of Diabetes and Pregnancy Study Groups (IADPSG) criteria. Genotyping was performed by IPLEX MassARRAY PCR using the Agena platform (Agena Bioscience, SanDiego, CA). 110 SNPs were selected for analysis based on selected literature references. Statistical analyses regarding patients' characteristics were performed in SPSS (Chicago, IL, USA) version 24.0. Genetic association tests were performed using PLINK v.1.9 and 2.0 software. Bioinformatics analysis, with mapping of SNPs was performed using STRING, version 11.5.
    Results: Quality controls retrieved a total 98 SNPs and 1573 samples, 272 (17.3%) with GDM and 1301 (82.7%) without GDM. 1104 (70.2%) were Caucasian (CAU) and 469 (29.8%) Hispanic (HIS). 415 (26.4%) were from the control group (CG), 418 (26.6%) from the nutritional intervention group (IG) and 740 (47.0%) from the real-world group (RW). 40 SNPs (40.8%) presented some kind of significant association with GDM in at least one of the genetic tests considered. The nutritional intervention presented a significant association with GDM, regardless of the variant considered. In CAU, variants rs4402960, rs7651090, IGF2BP2; rs1387153, rs10830963, MTNR1B; rs17676067, GLP2R; rs1371614, DPYSL5; rs5215, KCNJ1; and rs2293941, PDX1 were significantly associated with an increased risk of GDM, whilst rs780094, GCKR; rs7607980, COBLL1; rs3746750, SLC17A9; rs6048205, FOXA2; rs7041847, rs7034200, rs10814916, GLIS3; rs3783347, WARS; and rs1805087, MTR, were significantly associated with a decreased risk of GDM, In HIS, variants significantly associated with increased risk of GDM were rs9368222, CDKAL1; rs2302593, GIPR; rs10885122, ADRA2A; rs1387153, MTNR1B; rs737288, BACE2; rs1371614, DPYSL5; and rs2293941, PDX1, whilst rs340874, PROX1; rs2943634, IRS1; rs7041847, GLIS3; rs780094, GCKR; rs563694, G6PC2; and rs11605924, CRY2 were significantly associated with decreased risk for GDM.
    Conclusions: We identify a core set of SNPs in their association with diabetes and GDM in a large cohort of patients from two main ethnicities from a single center. Identification of these genetic variants, even in the setting of a nutritional intervention, deems useful to design preventive and therapeutic strategies.
    MeSH term(s) Female ; Humans ; Pregnancy ; Diabetes, Gestational/genetics ; Diet, Mediterranean ; Polymorphism, Single Nucleotide ; Hydrolases/genetics ; Microtubule-Associated Proteins ; RNA-Binding Proteins/genetics
    Chemical Substances DPYSL5 protein, human (EC 3.-) ; Hydrolases (EC 3.-) ; Microtubule-Associated Proteins ; IGF2BP2 protein, human ; RNA-Binding Proteins
    Language English
    Publishing date 2022-10-13
    Publishing country Switzerland
    Document type Randomized Controlled Trial ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2592084-4
    ISSN 1664-2392
    ISSN 1664-2392
    DOI 10.3389/fendo.2022.1036088
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  10. Article ; Online: Differentiated thyroid carcinoma in the elderly: influence of age on disease-free and overall survival.

    Díez, Juan J / Anda, Emma / Alcazar, Victoria / Isidro, María L / Familiar, Cristina / Paja, Miguel / Rojas Marcos, Patricia / Pérez-Corral, Begoña / Navarro, Elena / Romero-Lluch, Ana R / Oleaga, Amelia / Pamplona, María J / Fernández-García, José C / Megía, Ana / Manjón, Laura / Sánchez-Ragnarsson, Cecilia / Iglesias, Pedro / Sastre, Julia

    Endocrine

    2022  Volume 77, Issue 1, Page(s) 121–133

    Abstract: Purpose: We investigated whether age at diagnosis of differentiated thyroid carcinoma (DTC) may be a risk factor for structural disease and mortality after primary treatment in aging patients.: Methods: A multicenter, retrospective analysis including ...

    Abstract Purpose: We investigated whether age at diagnosis of differentiated thyroid carcinoma (DTC) may be a risk factor for structural disease and mortality after primary treatment in aging patients.
    Methods: A multicenter, retrospective analysis including patients older than 60 years at DCT diagnosis was designed. All subjects were treated by surgery with or without radioiodine adjuvant therapy and had a minimum follow-up of one year. We compared elderly patients (group 1, 60-74 years) with very old patients (group 2, ≥75 years).
    Results: The study involved 1668 patients (74.3% women, median age 67 years, 87.6% papillary thyroid cancer, 73.3% treated with radioiodine), including 1397 in group 1 and 271 in group 2. Patients in group 2 had larger tumor size (1.8 [0.8-3.0] vs 1.5 [0.7-2.8] cm; P = 0.005), higher proportions of tumors with vascular invasion (23.8 vs 16.4%; P = 0.006), and lower proportion of lymphocytic thyroiditis (18.6 vs 24.9%; P = 0.013) than subjects in group 1. Kaplan-Meier survival analysis showed that patients in group 2 had significantly lower structural disease-free survival (DFS) and overall survival (OS) than patients in group 1 (P = 0.035 and <0.001, respectively). In multivariate Cox regression analysis, age was a risk factor significantly associated with OS. However, age was significantly associated with DFS in unadjusted analysis and in analysis adjusted by gender and risk classification variables, but not when pathological and therapy-related variables were introduced in the model. On the other hand, patients who received radioiodine had worse DFS (P < 0.001) compared to those who did not.
    Conclusion: Although age is a conditioning factor for OS, very old patients do not have a greater risk of developing structural disease throughout the follow-up than elderly patients with DTC.
    MeSH term(s) Aged ; Disease-Free Survival ; Female ; Humans ; Iodine Radioisotopes/therapeutic use ; Male ; Prognosis ; Retrospective Studies ; Thyroid Neoplasms/pathology ; Thyroidectomy
    Chemical Substances Iodine Radioisotopes
    Language English
    Publishing date 2022-05-18
    Publishing country United States
    Document type Journal Article ; Multicenter Study
    ZDB-ID 1194484-5
    ISSN 1559-0100 ; 1355-008X ; 0969-711X
    ISSN (online) 1559-0100
    ISSN 1355-008X ; 0969-711X
    DOI 10.1007/s12020-022-03059-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

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