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1.
J Clin Med ; 13(7)2024 Mar 22.
Artigo em Inglês | MEDLINE | ID: mdl-38610601

RESUMO

Objectives: To compare complications associated with percutaneous gastrostomies performed using PUSH and PULL techniques, whether endoscopic (PEG) or radiological (PRG), in a tertiary-level hospital. Methods: This was a prospective observational study. Adult patients who underwent percutaneous PULL or PUSH gastrostomy using PEG or PRG techniques at the Virgen del Rocio University Hospital and subsequently followed up in the Nutrition Unit between 2009-2020 were included. X2 tests or Fisher's test were used for the comparison of proportions when necessary. Univariate analysis was conducted to study risk factors for PRG-associated complications. Results: n = 423 (PULL = 181; PUSH = 242). The PULL technique was associated with a higher percentage of total complications (37.6% vs. 23.8%; p = 0.005), exudate (18.2% vs. 11.2%; p = 0.039), and irritation (3.3% vs. 0%; p = 0.006). In the total sample, there were 5 (1.1%) cases of peritonitis, 3 (0.7%) gastrocolic fistulas, and 1 (0.2%) death due to complications associated with gastrostomy. Gender, age, and different indications were not risk factors for a higher number of complications. The most common indications were neurological diseases (35.9%), head and neck cancer (29%), and amyotrophic lateral sclerosis (17.2%). Conclusions: The PULL technique was associated with more total complications than the PUSH technique, but both were shown to be safe techniques, as the majority of complications were minor.

2.
Endocrinol Diabetes Nutr (Engl Ed) ; 71(3): 119-123, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38555108

RESUMO

INTRODUCTION/OBJECTIVES: Mutations in the ARMC5 (armadillo repeat containing 5, OMIM 615549) gene, a putative tumor suppressor gene, have recently been identified as a common cause of sporadic and familial bilateral macronodular adrenal hyperplasia (BMAH). Familial BMAH is thought to be caused by two mutations, one germline and the other somatic, as suggested by the 2-hit theory. The objective is to describe a new mutation and develop its clinical characteristics and implications. METHODS, RESULTS AND CONCLUSIONS: We present an affected family with 11 members carrying a novel mutation of the ARMC5 gene (NM_001288767.1): c.2162T>C p. (Leu721Pro). Two of the carriers developed clinical Cushing's syndrome (CS), two mild autonomous cortisol secretion (MACS) and one presented with autonomous cortisol secretion (ACS). Four patients developed other tumors, three of whom died from this cause. It is not known whether these tumors could be related to the described mutation.


Assuntos
Hiperplasia Suprarrenal Congênita , Síndrome de Cushing , Neoplasias , Humanos , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/genética , Síndrome de Cushing/genética , Mutação em Linhagem Germinativa , Hidrocortisona , Hiperplasia , Proteínas Supressoras de Tumor/genética
3.
Front Med (Lausanne) ; 10: 1191204, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37915325

RESUMO

Objectives: To describe the complications associated with the different gastrostomy techniques [endoscopic (PEG), radiologic (PRG), and surgical (SG)] performed in the last 26 years in a terciary hospital. Methods: Retrospective observational study. Patients who underwent gastrostomy at the Virgen del Rocío University Hospital between 1995 and 2021 were included. For PEG, the PULL technique was performed until 2018 and subsequently the PUSH technique predominantly. For PRG, a pigtail catheter was used until 2003, a balloon catheter between 2003 and 2009, and a balloon catheter with gastropexy between 2015 and 2021. For SG, the conventional technique (CSG) was performed until 2009 and since then the laparoscopic assisted percutaneous gastrostomy (PLAG) technique. Descriptive analysis was performed obtaining the median and quartiles of the quantitative variables [P50 (P25-P75)] and the frequency for the qualitative variables [n (%)].The comparison of complications between patients who underwent different techniques was performed with Fisher's test. Results: n = 1,070 (PEG = 608, PRG = 344, SG = 118). The three most frequent indications were head and neck tumors, neurological diseases and gastroesophageal tumors. The percentage of patients who had any complication was 48.9% (PEG-PULL), 23.7% (PEG-PUSH), 38.5% (pigtail PRG), 39.2% (balloon PRG), 29.7% (balloon with gastropexy PRG), 87.3% (CSG), and 41.26% (PLAG). 2 (0.18%) patients died from gastrostomy-related complications. 18(1.68%) presented with peritonitis and 5 (0.4%) presented with gastrocolic fistula. The rest of the complications were minor. Conclusion: Gastrostomy in any of its modalities is currently a safe procedure with a low rate of complications, most of which are minor.

4.
Front Endocrinol (Lausanne) ; 14: 1204206, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37720528

RESUMO

Current guidelines recommend temozolomide as the first-line chemotherapy for aggressive pituitary neuroendocrine tumours. However, no clinical trials have been conducted to date and clinical experience is quite limited. We retrospectively analyzed 28 patients (9 women and 19 men), aged 46.6 + 16.9, with aggressive pituitary tumours (4 pituitary carcinomas and 24 aggressive adenomas) treated with temozolomide in 10 Spanish pituitary reference centres. Four patients had Cushing's disease, 9 prolactinomas and 15 clinically non-functioning pituitary tumours (seven silent corticotroph, three silent somatotroph, one silent lactotroph, one silent gondotroph and three null-cell tumours). Median size at diagnosis was 10.5 cm3 (IQR 4.7-22.5), with cavernous sinus invasion in 88% and no metastases. Pre-temozolomide treatment, these data were 5.2 cm3 (IQR 1.9-12.3), 89.3% and 14.3% (2 intracranial and 2 spinal metastases). All patients had undergone surgery (1-5 surgeries), 25 (89.3%) had received radiotherapy (7 of them reirradiated) and 13(46.4%) had received cabergoline. One patient interrupted temozolomide prematurely. The remaining 27 patients received a median of 13 cycles (range 3-66) of 5 days every 28 days, with a mean initial dose of 265 ± 73 mg when administered alone and of 133 ± 15 mg when co-administered with radiotherapy. Eight patients (29.6%) had a significant reduction (>30%) in tumour volume and 14 (51.9%) attained tumour stabilization. After a median follow-up of 29 months (IQR 10-55), 8 out of these 22 showed disease progression. A longer progression-free survival was found in the five patients who received concomitant radiotherapy. Seven patients (25%) died (all of them because of tumour progression or complications of treatments) at 77 months (IQR 42-136) after diagnosis and 29 months (IQR 16-55) after the first dose of temozolomide. Adverse effects occurred in 18 patients (14 mild and 4 moderate or severe). In conclusion, temozolomide is an effective medical treatment for aggressive pitNET and pituitary carcinomas but is sometimes followed by tumour progression. Co-administration with radiotherapy may increase progression-free survival.


Assuntos
Tumores Neuroendócrinos , Doenças da Hipófise , Neoplasias Hipofisárias , Masculino , Humanos , Feminino , Neoplasias Hipofisárias/tratamento farmacológico , Temozolomida/uso terapêutico , Espanha , Estudos Retrospectivos
5.
Nutrients ; 14(22)2022 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-36432521

RESUMO

OBJECTIVES: We aimed to describe and compare the complications associated with different percutaneous radiologic gastrostomy (PRG) techniques. METHODS: A retrospective and prospective observational study was conducted. Patients who underwent a PRG between 1995-2020 were included. TECHNIQUES: A pigtail catheter was used until 2003, a balloon catheter without pexy was used between 2003-2009 and a balloon catheter with gastropexy was used between 2015-2021. For the comparison of proportions, X2 tests or Fisher's test were used when necessary. Univariate analysis was performed to study the risk factors for PRG-associated complications. RESULTS: n = 330 (pigtail = 114, balloon-type without pexy = 28, balloon-type with pexy = 188). The most frequent indication was head and neck cancer. The number of patients with complications was 44 (38.5%), 11 (39.2%) and 54 (28,7%), respectively. There were seven (25%) cases of peritonitis in the balloon-type without-pexy group and 1 (0.5%) in the balloon-type with-pexy group, the latter being the only patient who died in the total number of patients (0.3%). Two (1%) patients of the balloon-type with-pexy group presented with gastrocolic fistula. The rest of the complications were minor. CONCLUSIONS: The most frequent complications associated with the administration of enteral nutrition through PRG were minor and the implementation of the balloon-type technique with pexy has led to a decrease in them.


Assuntos
Gastrostomia , Radiologia , Humanos , Gastrostomia/efeitos adversos , Gastrostomia/métodos , Estudos Retrospectivos , Centros de Atenção Terciária , Radiografia Intervencionista/métodos
6.
Front Endocrinol (Lausanne) ; 13: 963707, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36082073

RESUMO

Introduction: Water and electrolyte disturbances are common after pituitary surgery and can generally be classified into transient hypotonic polyuria and transient or permanent diabetes insipidus (DI). The prevalence varies in the literature between 31-51% for transient hypotonic polyuria, 5.1-25.2% for transient DI, and 1-8.8% for permanent DI. Objective: The aim of this study was to identify the prevalence of water and electrolyte disturbances with polyuria and the preoperative and postoperative predictive factors in patients undergoing surgery with an extended endoscopic endonasal approach. Material and methods: This retrospective observational descriptive study included 203 patients with a diagnosis of pituitary adenoma who underwent their first transsphenoidal surgery via the extended endoscopic endonasal approach between April 2013 and February 2020. The diagnosis of water and electrolyte disturbances was based on the criterion for polyuria (>4 ml/kg/h). Postoperative polyuria was defined as those cases diagnosed during the immediate postsurgical period that resolved prior to discharge. Transient DI included all cases with a duration of less than 6 months but still present at hospital discharge, and permanent DI included cases lasting more than 6 months. Results: The overall prevalence of water and electrolyte disorders was 30.5% (62), and the prevalence of postoperative polyuria was 23.6% (48). The median number of desmopressin doses administered to patients with postoperative polyuria was one dose (interquartile range [IQR] 1-2), and thus the median duration of treatment was 0 days. The median initiation of desmopressin was the second day after surgery (IQR 1-2). The overall prevalence of DI was 6.89%. Among the patients with transient DI, the duration was less than 3 months in three patients (1.47%), and between 3 and 6 months in two (0.98%). Nine patients had permanent DI (4.43%). (4.43%). Conclusions: The prevalence of electrolyte disturbances in our study was high, although similar to that found in the literature. Most of the cases were transient hypotonic polyuria that resolved within one day. The prevalence of transient DI in our cohort was lower than that described in the literature, while permanent DI was similar.


Assuntos
Neoplasias Hipofisárias , Complicações Pós-Operatórias , Desequilíbrio Hidroeletrolítico , Desamino Arginina Vasopressina , Diabetes Insípido/etiologia , Humanos , Neoplasias Hipofisárias/cirurgia , Poliúria/etiologia , Estudos Retrospectivos , Desequilíbrio Hidroeletrolítico/etiologia
7.
Nutr Hosp ; 39(5): 1012-1018, 2022 Oct 17.
Artigo em Inglês | MEDLINE | ID: mdl-36134588

RESUMO

Introduction: Background: type 2 diabetes (T2D) is a risk factor for nonalcoholic fatty liver disease (NAFLD). Objective: to evaluate the prevalence of NAFLD in a cohort of patients with T2D. Methods: an observational, descriptive study performed between May 2018 and December 2019 at the Endocrinology and Nutrition Unit. The χ² test was performed for qualitative variables and a non-parametric test for the comparison of medians of quantitative variables. Steatosis degree was defined by the coefficient attenuated parameter (CAP): (S0: < 248 dB/m; S1: 248-268 dB/m; S2: 268-288 dB/m; S3: > 288 dB/m) or stiffness: F0-F1: < 8 kPa; F2: 8-10 kPa; F3: 10-15 kPa; F4: > 15 kPa, using transient elastography (TE) (FibroScan®). A univariate analysis was performed and subsequently a multivariate analysis with statistically significant variables used to study the predictive factors of intense steatosis and advanced fibrosis. Results: n = 104 patients with T2D; 84 (80.7 %) were obese. TE demonstrated advanced fibrosis in 20 % and intense steatosis (S3) in more than 50 %. Lower total bilirubin (OR: 0.028; 95 % CI: (0.002-0.337); p = 0.005) was found to be an independent factor for S3 steatosis in the multivariate analysis. BMI ((OR: 1.497; 95 % CI: (1.102-2.034); p = 0.01)) was a predictive factor for advanced fibrosis in a multivariate analysis. Conclusions: NAFLD-associated intense steatosis and NAFLD-associated fibrosis were commonly found in patients with T2DM and obesity. Diabetic patients should be screened for liver disease as one more target organ.


Introducción: Antecedentes: la diabetes de tipo 2 (DM2) es un factor de riesgo para la enfermedad del hígado graso no alcohólico (EHGNA). Objetivo: evaluar la prevalencia de la EHGNA en una cohorte de pacientes con DM2. Métodos: estudio descriptivo observacional realizado entre mayo de 2018 y diciembre de 2019 en la Unidad de Endocrinología y Nutrición. Se realizó una prueba de χ² para las variables cualitativas y una prueba no paramétrica para la comparación de medianas de variables cuantitativas. El grado de esteatosis se definió mediante el parámetro coeficiente atenuado (CAP): (S0: < 248 dB/m; S1: 248-288 dB/m; S2: 268-288 dB/m; S3: > 288 dB/m) o rigidez: F0-F1: < 8 kPa; F2: 8-10 kPa; F3: 10-15 kPa; F4: > 15 kPa, usando la elastografía transitoria (TE) (FibroScan®). Se realizó un análisis univariante y posteriormente un análisis multivariante con las variables estadísticamente significativas para estudiar los factores predictivos de esteatosis intensa y fibrosis avanzada. Resultados: n = 104 pacientes con DM2; 84 (80,7 %) eran obesos. La TE demostró fibrosis avanzada en el 20 % y esteatosis intensa (S3) en más del 50 %. Los niveles disminuidos de bilirrubina total (OR: 0.028; 95 % CI: (0.002-0.337); p = 0.005) se encontraron como factores independientes para la esteatosis S3 en el analisis multivariable. El IMC (OR: 1.497; 95 % CI: (1.102-2.034); p = 0.01) fue un factor predictivo de fibrosis avanzada. Conclusiones: la esteatosis intensa asociada a EHGNA y la fibrosis asociada a EHGNA se encontraron comúnmente en pacientes con DM2 y obesidad. Los pacientes diabéticos deben someterse a pruebas de detección de enfermedad hepática como un órgano diana más.


Assuntos
Diabetes Mellitus Tipo 2 , Hepatopatia Gordurosa não Alcoólica , Bilirrubina , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/epidemiologia , Fibrose , Humanos , Fígado/patologia , Cirrose Hepática/complicações , Cirrose Hepática/epidemiologia , Hepatopatia Gordurosa não Alcoólica/complicações , Hepatopatia Gordurosa não Alcoólica/epidemiologia , Hepatopatia Gordurosa não Alcoólica/patologia , Obesidade/epidemiologia , Prevalência
8.
Nutr. hosp ; 39(5): 1012-1018, sep.-oct. 2022. tab, graf
Artigo em Inglês | IBECS | ID: ibc-213958

RESUMO

Background: type 2 diabetes (T2D) is a risk factor for nonalcoholic fatty liver disease (NAFLD). Objective: to evaluate the prevalence of NAFLD in a cohort of patients with T2D. Methods: an observational, descriptive study performed between May 2018 and December 2019 at the Endocrinology and Nutrition Unit. The χ² test was performed for qualitative variables and a non-parametric test for the comparison of medians of quantitative variables. Steatosis degree was defined by the coefficient attenuated parameter (CAP): (S0: < 248 dB/m; S1: 248-268 dB/m; S2: 268-288 dB/m; S3: > 288 dB/m) or stiffness: F0-F1: < 8 kPa; F2: 8-10 kPa; F3: 10-15 kPa; F4: > 15 kPa, using transient elastography (TE) (FibroScan®). A univariate analysis was performed and subsequently a multivariate analysis with statistically significant variables used to study the predictive factors of intense steatosis and advanced fibrosis. Results: n = 104 patients with T2D; 84 (80.7 %) were obese. TE demonstrated advanced fibrosis in 20 % and intense steatosis (S3) in more than 50 %. Lower total bilirubin (OR: 0.028; 95 % CI: [0.002-0.337]; p = 0.005) was found to be an independent factor for S3 steatosis in the multivariate analysis. BMI (OR: 1.497; 95 % CI: [1.102-2.034]; p = 0.01) was a predictive factor for advanced fibrosis in a multivariate analysis. Conclusions: NAFLD-associated intense steatosis and NAFLD-associated fibrosis were commonly found in patients with T2DM and obesity. Diabetic patients should be screened for liver disease as one more target organ. (AU)


Antecedentes: la diabetes de tipo 2 (DM2) es un factor de riesgo para la enfermedad del hígado graso no alcohólico (EHGNA). Objetivo: evaluar la prevalencia de la EHGNA en una cohorte de pacientes con DM2. Métodos: estudio descriptivo observacional realizado entre mayo de 2018 y diciembre de 2019 en la Unidad de Endocrinología y Nutrición. Se realizó una prueba de χ² para las variables cualitativas y una prueba no paramétrica para la comparación de medianas de variables cuantitativas. El grado de esteatosis se definió mediante el parámetro coeficiente atenuado (CAP): (S0: < 248 dB/m; S1: 248-288 dB/m; S2: 268-288 dB/m; S3: > 288 dB/m) o rigidez: F0-F1: < 8 kPa; F2: 8-10 kPa; F3: 10-15 kPa; F4: > 15 kPa, usando la elastografía transitoria (TE) (FibroScan®). Se realizó un análisis univariante y posteriormente un análisis multivariante con las variables estadísticamente significativas para estudiar los factores predictivos de esteatosis intensa y fibrosis avanzada. Resultados: n = 104 pacientes con DM2; 84 (80,7 %) eran obesos. La TE demostró fibrosis avanzada en el 20 % y esteatosis intensa (S3) en más del 50 %. Los niveles disminuidos de bilirrubina total (OR: 0.028; 95 % CI: (0.002-0.337); p = 0.005) se encontraron como factores independientes para la esteatosis S3 en el analisis multivariable. El IMC (OR: 1.497; 95 % CI: (1.102-2.034); p = 0.01) fue un factor predictivo de fibrosis avanzada. Conclusiones: la esteatosis intensa asociada a EHGNA y la fibrosis asociada a EHGNA se encontraron comúnmente en pacientes con DM2 y obesidad. Los pacientes diabéticos deben someterse a pruebas de detección de enfermedad hepática como un órgano diana más. (AU)


Assuntos
Humanos , Masculino , Feminino , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/epidemiologia , Hepatopatia Gordurosa não Alcoólica/complicações , Hepatopatia Gordurosa não Alcoólica/epidemiologia , Hepatopatia Gordurosa não Alcoólica/patologia , Epidemiologia Descritiva , Cirrose Hepática , Técnicas de Imagem por Elasticidade
10.
Med Clin (Barc) ; 159(2): e12, 2022 07 22.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-35676116
13.
Nutrients ; 14(8)2022 Apr 12.
Artigo em Inglês | MEDLINE | ID: mdl-35458163

RESUMO

Since the beginning of the practice of surgery, the reduction of postoperative complications and early recovery have been two of the fundamental pillars that have driven the improvement of surgical techniques and perioperative management. Despite great advances in these fields, the rationalization of antibiotic prophylaxis, and other important innovations, postoperative recovery (especially in elderly patients, oncological pathology or digestive or head and neck surgery) is tortuous. This can be explained by several reasons, among which, malnutrition has a major role. Perioperative nutritional support, included within the ERAS (Enhanced Recovery After Surgery) protocol, has proven to be a main element and a critical step to achieve better surgical results. Starting with the preoperative nutritional assessment and treatment in elective surgery, we can improve nutritional status using oral supplements and immunomodulatory formulas. If we add early nutritional support in the postoperative scenario, we are able to significantly reduce infectious complications, need for intensive care unit (ICU) and hospital stay, costs, and mortality. Throughout this review, we will review the latest developments and the available literature.


Assuntos
Desnutrição , Idoso , Humanos , Tempo de Internação , Desnutrição/prevenção & controle , Avaliação Nutricional , Estado Nutricional , Apoio Nutricional , Assistência Perioperatória , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/prevenção & controle
14.
Nutrients ; 14(7)2022 Mar 31.
Artigo em Inglês | MEDLINE | ID: mdl-35406067

RESUMO

Extra virgin olive oil (EVOO) is a cornerstone of the Mediterranean diet (MedD). In this narrative review, we synthesize and illustrate the various characteristics and clinical applications of EVOO and its components-such as oleic acid, hydroxytyrosol, and oleuropein-in the field of clinical nutrition and dietetics. The evidence is split into diet therapy, oleic acid-based enteral nutrition formulations and oral supplementation formulations, oleic acid-based parenteral nutrition, and nutraceutical supplementation of minor components of EVOO. EVOO has diverse beneficial health properties, and current evidence supports the use of whole EVOO in diet therapy and the supplementation of its minor components to improve cardiovascular health, lipoprotein metabolism, and diabetes mellitus in clinical nutrition. Nevertheless, more intervention studies in humans are needed to chisel specific recommendations for its therapeutic use through different formulations in other specific diseases and clinical populations.


Assuntos
Dieta Mediterrânea , Ácido Oleico , Antioxidantes/uso terapêutico , Suplementos Nutricionais , Humanos , Azeite de Oliva/uso terapêutico
15.
J Clin Endocrinol Metab ; 107(7): e2938-e2951, 2022 06 16.
Artigo em Inglês | MEDLINE | ID: mdl-35312002

RESUMO

CONTEXT: Adrenocorticotropin (ACTH)-secreting pituitary tumors (ACTHomas) are associated with severe comorbidities and increased mortality. Current treatments mainly focus on remission and prevention of persistent disease and recurrence. However, there are still no useful biomarkers to accurately predict the clinical outcome after surgery, long-term remission, or disease relapse. OBJECTIVES: This work aimed to identify clinical, biochemical, and molecular markers for predicting long-term clinical outcome and remission in ACTHomas. METHODS: A retrospective multicenter study was performed with 60 ACTHomas patients diagnosed between 2004 and 2018 with at least 2 years' follow-up. Clinical/biochemical variables were evaluated yearly. Molecular expression profile of the somatostatin/ghrelin/dopamine regulatory systems components and of key pituitary factors and proliferation markers were evaluated in tumor samples after the first surgery. RESULTS: Clinical variables including tumor size, time until diagnosis/first surgery, serum prolactin, and postsurgery cortisol levels were associated with tumor remission and relapsed disease. The molecular markers analyzed were distinctly expressed in ACTHomas, with some components (ie, SSTR1, CRHR1, and MKI67) showing instructive associations with recurrence and/or remission. Notably, an integrative model including selected clinical variables (tumor size/postsurgery serum cortisol), and molecular markers (SSTR1/CRHR1) can accurately predict the clinical evolution and remission of patients with ACTHomas, generating a receiver operating characteristic curve with an area under the curve of 1 (P < .001). CONCLUSION: This study demonstrates that the combination of a set of clinical and molecular biomarkers in ACTHomas is able to accurately predict the clinical evolution and remission of patients. Consequently, the postsurgery molecular profile represents a valuable tool for clinical evaluation and follow-up of patients with ACTHomas.


Assuntos
Hipersecreção Hipofisária de ACTH , Doenças da Hipófise , Neoplasias Hipofisárias , Humanos , Hidrocortisona , Hipersecreção Hipofisária de ACTH/diagnóstico , Hipersecreção Hipofisária de ACTH/genética , Hipersecreção Hipofisária de ACTH/cirurgia , Hipófise/patologia , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/genética , Neoplasias Hipofisárias/cirurgia , Recidiva , Indução de Remissão , Estudos Retrospectivos , Resultado do Tratamento
16.
Nutrients ; 14(6)2022 Mar 21.
Artigo em Inglês | MEDLINE | ID: mdl-35334968

RESUMO

The establishment of national neonatal screening systems has resulted in improved quality of life and life expectancy in patients with phenylketonuria (PKU). This has led to the development of multidisciplinary treatment units for adult patients with PKU. We present a retrospective descriptive study of a cohort of 90 adult patients (>16 years) with PKU under active follow-up in two reference centers in Andalusia. We analyzed disease severity, treatment type, demographic variables, cardiovascular risk factors, vitamin and hormone profiles, and bone metabolism. The median (interquartile range)age was 29 (23−38) years, 47 (52.2%) were women and 43 (47.8%) were men. Eighty (88.9%) had classical PKU, five (5.6%) moderate PKU, and five (5.6%) mild PKU. Diagnosis was by neonatal screening in 62 (68.9%) of the patients. The rest had late diagnosis. Treatment with sapropterin was given to 18 (20%) patients and diet and nutrition therapy to 72 (80%). There was adequate metabolic control according to Phe levels in 43 (47.78%) patients. Body mass index was 26.61 (22.7−31.1) kg/m2. Twenty-six (29.2%) patients had obesity, 7 (7.9%) hypertension, 2 (2.2%) type 2 diabetes, 26 (28.89%) dyslipidemia, 14 (15.6%) elevated total cholesterol, 9 (15.8%) decreased high-density lipoprotein cholesterol and 16 (17.8%) hypertriglyceridemia. Seven (10.3%) patients had osteoporosis and 28 (41.17%) osteopenia. Twenty-six (30.6%) had vitamin D (25OH) deficiency and four (4.5%) vitamin B12 deficiency. Although we observed no differences with most vascular risk factors, we found a high prevalence of obesity in relation to the age of the cohort. A continued evaluation of comorbidities in these patients is therefore needed, despite adequate metabolic control.


Assuntos
Doenças Cardiovasculares , Diabetes Mellitus Tipo 2 , Fenilcetonúrias , Adulto , Doenças Cardiovasculares/epidemiologia , Feminino , Humanos , Recém-Nascido , Masculino , Morbidade , Fenilcetonúrias/epidemiologia , Qualidade de Vida , Estudos Retrospectivos
17.
J Clin Med ; 11(4)2022 Feb 17.
Artigo em Inglês | MEDLINE | ID: mdl-35207312

RESUMO

BACKGROUND: Despite major medical advances, Type 1 Diabetes (T1D) patients still have greater morbimortality than the general population. Our aim was to describe our cohort of T1D patients and identify potential risk factors susceptible to prevention strategies. METHODS: Cross-sectional, observational study, including T1D patients treated at our center, from 1 March 2017 to 31 March 2020. INCLUSION CRITERIA: T1D, age > 14 years and signed informed consent. EXCLUSION CRITERIA: diabetes other than T1D, age < 14 years and/or refusal to participate. RESULTS: Study population n = 2181 (49.8% females, median age at enrollment 41 years, median HbA1c 7.7%; 38.24% had at least one comorbidity). Roughly 7.45% had severe hypoglycemia (SH) within the prior year. Macro/microvascular complications were present in 42.09% (5.83% and 41.14%, respectively). The most frequent microvascular complication was diabetic retinopathy (38.02%), and coronary disease (3.21%) was the most frequent macrovascular complication. The risk of complications was higher in males than in females, mainly macrovascular. Patients with SH had a higher risk of complications (OR 1.42; 1.43 in males versus 1.42 in females). CONCLUSIONS: Our T1D population is similar to other T1D populations. We should minimize the risk of SH, and male patients should perhaps be treated more aggressively regarding cardiovascular risk factors.

19.
J Eat Disord ; 9(1): 135, 2021 Oct 20.
Artigo em Inglês | MEDLINE | ID: mdl-34670625

RESUMO

OBJECTIVE: To describe the characteristics of the patients, as well as the treatment outcomes for the people treated in an Endocrinology and Nutrition unit with a diagnosis of SE-ED (> 7 years evolution despite evidence-based conventional treatment). METHODS: A descriptive observational study was conducted. Patients with a diagnosis of SE-ED (anorexia nervosa and bulimia nervosa) treated in the Endocrinology and Nutrition service of the Virgen del Rocío University Hospital between 2014 and 2019 were included. RESULTS: 67 patients were contacted and accepted to participate in the study. 95.5% were women. 67.2% were diagnosed with AN (anorexia nervosa) and 32.8% with BN (bulimia nervosa). Their median ages (years) at the onset of symptoms, beginning of follow-up and at present were 17, 32 and 42.5 respectively. Their median time of follow-up was 9 years. 73.1% had mental comorbitidy and AN patients had more osteoporosis (48.9% vs 22.7%, p = 0.04) and hypogonadotropic hypogonadism (31.1% vs. 4.5%, p = 0.014). DISCUSSION: The SE-ED patients in our sample began treatment years after the onset of symptoms, which may have led to their chronification. This emphasizes the importance of an early diagnosis in eating disorders. They presented with a high rate of physical complications and mental comorbidity. In the current sample, it was determined that patients with AN presented with higher rates of osteoporosis and hypogonadotropic hypogonadism than patients with BN. LEVEL OF EVIDENCE: Level III: Evidence obtained from well-designed cohort or case-control analytic studies. At present, the criteria for severe and enduring eating disorders (SE-ED) are not sufficiently clearly defined. It has been calculated that approximately 20% of patients with anorexia nervosa (AN) and 10% of patients with bulimia nervosa (BN) suffer a chronification. We evaluated the characteristics of the patients, as well as the treatment outcomes for the people treated in an Endocrinology and Nutrition unit with a diagnosis of SE-ED (which was made based on an evolution greater than 7 years despite conventional treatment). The SE-ED patients in our sample began treatment years after the onset of symptoms, which may have led to their chronification. They presented with a high rate of physical complications and mental comorbidity. In the current sample, it was determined that patients with AN presented with higher rates of osteoporosis (health condition that weakens bones, making them fragile and more likely to break) and hypogonadotropic hypogonadism (illness in which testes or ovaries produce little or no sex hormones due to a problem in the pituitary gland) than patients with BN.

20.
Endocrinology ; 162(11)2021 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-34417811

RESUMO

Thiazolidinediones (TZD) are peroxisome proliferator-activated receptor γ (PPARγ) agonists that may reduce hepatic steatosis through their effects in adipose tissue and therefore have been assessed as potential therapies to treat nonalcoholic fatty liver disease (NAFLD) in humans. However, some studies suggest that expression and activation of hepatocyte PPARγ promotes steatosis and that would limit the benefits of TZD as a NAFLD therapy. To further explore this possibility, we examined the impact of short-term rosiglitazone maleate treatment after the development of moderate or severe diet-induced obesity, in both control and adult-onset hepatocyte-specific PPARγ knockout (PpargΔHep) mice. Independent of the level of obesity and hepatic PPARγ expression, the TZD treatment enhanced insulin sensitivity, associated with an increase in white adipose tissue (WAT) fat accumulation, consistent with clinical observations. However, TZD treatment increased hepatic triglyceride content only in control mice with severe obesity. Under these conditions, PpargΔHep reduced diet-induced steatosis and prevented the steatogenic effects of short-term TZD treatment. In these mice, subcutaneous WAT was enlarged and associated with increased levels of adiponectin, while hepatic levels of phosphorylated adenosine 5'-monophosphate-activated protein kinase were also increased. In addition, in mice with severe obesity, the expression of hepatic Cd36, Cidea, Cidec, Fabp4, Fasn, and Scd-1 was increased by TZD in a PPARγ-dependent manner. Taken together, these results demonstrate that hepatocyte PPARγ expression offsets the antisteatogenic actions of TZD in mice with severe obesity. Therefore, in obese and insulin resistant humans, TZD-mediated activation of hepatocyte PPARγ may limit the therapeutic potential of TZD to treat NAFLD.


Assuntos
Hepatócitos/efeitos dos fármacos , Hepatopatia Gordurosa não Alcoólica/induzido quimicamente , Obesidade/genética , PPAR gama/genética , Rosiglitazona/farmacologia , Animais , Dieta Hiperlipídica , Hepatócitos/metabolismo , Fígado/efeitos dos fármacos , Fígado/metabolismo , Fígado/patologia , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Hepatopatia Gordurosa não Alcoólica/genética , Hepatopatia Gordurosa não Alcoólica/metabolismo , Obesidade/etiologia , Obesidade/metabolismo , PPAR gama/metabolismo
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