Use the keywords feature with a free QxMD account.
Use Read by QxMD to access full text via your institution or open access sources.
Read also provides personalized recommendations to keep you up to date in your field.
Existing User
Sign InNew to Read
Sign Up#1
JOURNAL ARTICLE
Ana Isabel Elola Pastor, Belén Prieto García, Juan José Díaz Martín
INTRODUCTION: . Neonatal screening of glutaric aciduria type 1 (GA-1) has brought radical changes in the course and outcomes of this disease. This study analyses the outcomes of the first 5 years (2015-2019) of the AGA1 neonatal screening programme in our autonomous community. MATERIAL: . We conducted an observational, descriptive and retrospective study. All neonates born between January 1, 2015 and December 31, 2019 that participated in the neonatal screening programme were included in the study...
May 6, 2024: Anales de pediatría
#2
REVIEW
M T Merino Diez, C Soria Prada, M Zamorano Aleixandre, J J Gonzalez-Lopez
Gyrate atrophy of the choroid and retina (GACR) is a rare autosomal recessive disease characterised by elevated plasma ornithine levels due to deficiency of the enzyme ornithine aminotransferase (OAT). The accumulation of this amino acid in plasma leads to the development of patches of chorioretinal atrophy in the peripheral retina extending into the macular area. Patients usually present with night blindness followed by constriction of the visual field and, finally, decreased central vision and blindness. The disease is diagnosed by the presence of the characteristic clinical picture, the presence of hyperornithinaemia in plasma and the detection of mutations in the OAT enzyme gene...
April 23, 2024: Archivos de la Sociedad Española de Oftalmología
#3
Fabio Vescini, Giorgio Borretta, Iacopo Chiodini, Marco Boniardi, Marina Carotti, Elena Castellano, Cristiana Cipriani, Cristina Eller-Vainicher, Sandro Giannini, Maurizio Iacobone, Antonio Stefano Salcuni, Federica Saponaro, Stefano Spiezia, Annibale Versari, Guido Zavatta, Zuzana Mitrova, Rosella Saulle, Simona Vecchi, Debora Antonini, Michele Basile, Alexia Giovanazzi, Agostino Paoletta, Enrico Papini, Agnese Persichetti, Irene Samperi, Alessandro Scoppola, Roberto Novizio, Pietro Giorgio Calò, Filomena Cetani, Luisella Cianferotti, Sabrina Corbetta, Maria Luisa De Rimini, Alberto Falchetti, Giovanni Iannetti, Stefano Laureti, Celestino Pio Lombardi, Bruno Madeo, Claudio Marcocci, Sandro Mazzaferro, Vittorio Miele, Salvatore Minisola, Andrea Palermo, Jessica Pepe, Alfredo Scillitani, Laura Tonzar, Franco Grimaldi, Renato Cozzi, Roberto Attanasio
AIM: This guideline (GL) is aimed at providing a clinical practice reference for the management of sporadic primary hyperparathyroidism (PHPT) in adults. PHPT management in pregnancy was not considered. METHODS: This GL has been developed following the methods described in the Manual of the Italian National Guideline System. For each question, the panel appointed by Associazione Medici Endocrinology (AME) and Società Italiana dell'Osteoporosi, del Metabolismo Minerale e delle Malattie dello Scheletro (SIOMMMS) identified potentially relevant outcomes, which were then rated for their impact on therapeutic choices...
December 23, 2023: Endocrine, Metabolic & Immune Disorders Drug Targets
#4
JOURNAL ARTICLE
Nuria Padilla Apuntate, Carmen G Puerto Cabeza, Alba Gallego Royo, Nuria Goñi Ros, Claudia Abadía Molina, Javier Acha Pérez, Pilar Calmarza
No abstract text is available yet for this article.
March 2024: Adv Lab Med
#5
JOURNAL ARTICLE
José Cuenca Alcocel, Lorena Villalba-Heredia, Inés Martínez Redondo, Clara Berrozpe-Villabona, José Antonio Casajús, José Miguel Arbonés-Mainar, Pilar Calmarza
No abstract text is available yet for this article.
March 2024: Adv Lab Med
#6
JOURNAL ARTICLE
Jordi Bover, Carlos Gómez-Alonso, Enrique Casado, Minerva Rodríguez-García, María Jesús Lloret, Cristina Castro-Alonso, Laia Gifre, Fernando Henríquez-Palop, Águeda Prior-Español, Virginia López de la Manzanara, Ana María Láiz, Àngels Martínez-Ferrer, Josep Vicens Torregrosa, Secundino Cigarrán, José Luis Górriz, Marco Montomoli, Nayara Panizo, Ester Costa, Daniel Martínez-Laguna, Mariano Rodríguez, Juan F Navarro-González
Fracture risk assessment in patients with chronic kidney disease (CKD) has been included in the CKD-MBD ("Chronic Kidney Disease-Mineral and Bone Disorders") complex in international and national nephrology guidelines, suggesting for the first time the assessment of bone mineral density (BMD) if the results can influence therapeutic decision-making. However, there is very little information on actual clinical practice in this population. The main objective of the ERCOS (ERC-Osteoporosis) study is to describe the profile of patients with CKD G3-5D with osteoporosis (OP) and/or fragility fractures treated in specialized nephrology, rheumatology and internal medicine clinics in Spain...
March 25, 2024: Nefrología
#7
JOURNAL ARTICLE
Congli Zhang, Yang Zhang, Di Liu, Mei Mei, Nannan Song, Qin Zhuang, Yiyao Jiang, Yuanyuan Guo, Gang Liu, Xiaohong Li, Li Ren
INTRODUCTION AND OBJECTIVES: To evaluate the impact of dexmedetomidine impact on cardiac surgery-associated (CSA) acute renal failure, kidney function, and metabolic and oxidative stress in patients undergoing coronary artery bypass grafting with heart-lung machine support. METHODS: A randomized double-masked trial with 238 participants (50-75 years) undergoing coronary artery bypass grafting was conducted from January 2021 to December 2022. The participants were divided into Dex (n = 119) and normal saline (NS) groups (n = 119)...
February 27, 2024: Revista Española de Cardiología
#8
JOURNAL ARTICLE
Ana María Orlandi, Graciela Alcaraz, Laila Bielski, Gabriela Brenta, Lorena Castro Jozami, Andrea Cavallo, Jorgelina Guerra, Santiago Zund
PURPOSE: Despite its rich vascularity, metastasis (MTS) to the thyroid tissue is unusual, ranging from 1 to 3%. This entity is not usually considered as differential diagnosis and is not included in the upfront approach in patients with thyroid nodules. Once diagnosed, treatment is controversial. The aim of this study was to evaluate diagnosis, treatment, and outcome at the end of follow-up in patients with a diagnosis of MTS to the thyroid. METHODS: A retrospective multicenter study was designed from 1985 to 2022; 29 patients with MTS to the thyroid gland were included in the analysis...
January 15, 2024: Endocrine
#9
JOURNAL ARTICLE
Angélica López-Villegas, María Natalia Gómez-González, Pedro Luis González-Carrillo
BACKGROUND: Nutrition in the Intensive Care Unit (ICU) is a cornerstone; however, energy requirements are a controversial issue that has not yet been resolved. Calorimetry is the gold standard for calculating energy expenditure, but it is expensive and not available in all ICU areas. Formulas have been developed to calculate basal energy expenditure (BAE) and make the process easier. OBJECTIVE: To validate the predictive formulas of BAE compared to that obtained with ventilatory indirect calorimetry (IC) within the nutritional assessment in ICU patients...
September 18, 2023: Revista Médica del Instituto Mexicano del Seguro Social
#10
JOURNAL ARTICLE
Carlos Cambaceres, Victoria Viggiano, Camila Parellada, Florencia Esteguy, Sebastián García, Claudio Castaños
Interstitial lung diseases are rare in pediatrics. They include dysfunctions in the metabolism of pulmonary surfactant, an amphipathic molecule that reduces surface tension and prevents alveolar collapse. Here we describe the case of a 6-month-old infant controlled for low weight, who presented with acute respiratory distress and cyanosis; his chest X-ray showed interstitial infiltrate, pneumomediastinum, and bilateral pneumothorax. During history-taking, it was noted that his mother had a history of hospitalization at 1 year old with unknown diagnosis, requiring prolonged oxygen therapy; she now shows signs of chronic hypoxia...
November 23, 2023: Archivos Argentinos de Pediatría
#11
JOURNAL ARTICLE
Pilar Calmarza, Alejandro Sanz Paris, Clara Berrozpe-Villabona, Alba Gallego Royo, Juan Antonio Domingo Morera, Manuel David Viñuales Aranda
INTRODUCTION: the prevalence of osteoporosis among candidates for lung transplantation is high and its pathophysiology is multifactorial. OBJECTIVES: to evaluate differences in bone mineral density, risk of fractures and bone remodeling markers in patients with terminal lung disease, at the time they are evaluated for lung transplantation, comparing two types of pathologies. MATERIAL AND METHODS: fifty-nine subjects, proposed to receive a lung transplant due to advanced lung disease, were included in this study...
October 27, 2023: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
#12
REVIEW
Jaume Campistol
The advances in the field of inborn errors of metabolism (IEM) are spectacular. New IEM have been described, their pathophysiological bases and implications for the organism are better known. With the advent of new metabolomics, lipidomics and genomics techniques, advances in diagnosis have multiplied and allow new therapeutic options to be explored. A new IEM classification has been established based on the more than 1.450 IEM identified. A new specialty is emerging, which is metabolic medicine. Neonatal screening is becoming universal and allows us today, with tandem mass, to diagnose more than 20 metabolic diseases of the neonatal period, with treatment options...
September 2023: Medicina
#13
MULTICENTER STUDY
Roxana A Damilano, Natalia L Monteserin, Carolina Fux Otta, Jorge H Mukdsi, Paula Mereshian, Marta Andrada
INTRODUCTION: Pituitary incidentalomas (PIs) are lesions found incidentally in the pituitary on imaging performed for reasons unrelated to pituitary disease. METHODS: A cross-sectional, retrospective and descriptive study was carried out with the aim of analyzing the clinical and evolutionary characteristics of a population of patients with PIs in the city of Córdoba. RESULTS: A total of 67 patients were included, 67% female, with a median age at diagnosis of 44 years...
2023: Medicina
#14
JOURNAL ARTICLE
Guillermo Ropero-Luis, Almudena López-Sampalo, Jaime Sanz-Cánovas, Alberto Ruiz-Cantero, Ricardo Gómez-Huelgas
BACKGROUND AND OBJECTIVE: There are limited studies analyzing hypercalcemia in hospitalized patients. Our objectives were to describe the clinical characteristics of hospitalized patients with hypercalcemia, estimate its prevalence in the hospital setting, analyze the rate of correction of hypercalcemia, and identify prognostic variables. MATERIALS AND METHODS: Observational, longitudinal, retrospective, and bicentric study. Adult patients admitted to two hospitals in Málaga (2014-2018) with a diagnosis of hypercalcemia were included...
July 31, 2023: Revista Clínica Espanõla
#15
JOURNAL ARTICLE
Lorena Miñones-Suarez, Guiomar Pérez de Nanclares, Silvia Marín-Del Barrio, María José Alcázar Villar, Diego de Sotto-Esteban, Eduard Mogas, Lourdes Rey Cordo, Isolina Riaño-Galán, Javier Lumbreras Fernández, Rosaura Leis
Pseudohypoparathyroidism (PHP) is a spectrum of diseases characterized by insensitivity of target tissues to the action of parathyroid hormone and, consequently, by the presence of hyperphosphatemia and hypocalcaemia of varying severity. Early-onset obesity is a feature of PHP type 1A. This article discusses the need to establish uniform criteria to guide the nutritional management of patients with PHP. A decrease in energy expenditure calls for an adjustment of the energy content of the diet. Reducing the intake of foods rich in inorganic phosphorus helps to manage hyperphosphataemia...
August 2023: Anales de pediatría
#16
JOURNAL ARTICLE
Mateus Rozalem Aranha, Artur Martins Coutinho, Camila de Godoi Carneiro, Bruno Fraccini Pastorello, Adalberto Studart-Neto, Carla Cristina Guariglia, Miriam Harumi Tsunemi, Everton Luis Santos Moreira, Jéssica Natuline Ianof, Renato Anghinah, Ricardo Nitrini, Giovanni Guido Cerri, Juan Fortea, Carlos Alberto Buchpiguel, Claudia Costa Leite
BACKGROUND: Professional soccer athletes are exposed to repetitive head impacts and are at risk of developing chronic traumatic encephalopathy. OBJECTIVE: To evaluate regional brain glucose metabolism (rBGM) and gray matter (GM) volume in retired soccer players (RSPs). METHODS: Male RSPs and age and sex-matched controls prospectively enrolled between 2017 and 2019 underwent neurological and neuropsychological evaluations, brain MRI and [18F]FDG-PET in a 3...
May 2023: Arquivos de Neuro-psiquiatria
#17
JOURNAL ARTICLE
Luciano Pereira, Luís Mendonça, Juliana Magalhães, Ricardo Neto, Janete Quelhas-Santos, Ana Oliveira, Ana Beco, João Frazão
INTRODUCTION: Data regarding vascular calcification (VC) in contemporary peritoneal dialysis (PD) patients is scarce. Bone-vascular axis has been demonstrated in hemodialysis (HD). However, studies showing the link between bone disease and VC in PD patients are lacking. The role of sclerostin, dickkopf-related protein 1 (DKK-1), receptor activator for nuclear factor kB ligand and osteoprotegerin (OPG) in VC in PD remains to clarify. MATERIALS AND METHODS: Bone biopsy was performed in 47 prevalent PD patients with histomorphometric analysis...
May 11, 2023: Nefrología
#18
JOURNAL ARTICLE
Roberto Bogarin, Luis Elizondo, Evangelia Kalaitzoglou, Jadranka Popovic, Alan Rogol, Erick Richmond, Jean-Pierre Chanoine, Jose M Lopez-Pedrosa, Francis Ruiz Salazar, Patricia Vuguin
BACKGROUND: Pediatric endocrinology is a specialty that is struggling worldwide to maintain adequately trained professionals. Pediatric endocrine care in Central America and Caribbean countries is often performed by pediatricians or adult endocrinologists due to the limited number of pediatric endocrinologists. These health care providers are seldom members of endocrine societies and frequently lack formal training in the field. OBJECTIVE: In this study, we describe the scope of a virtual conference in pediatric endocrinology and diabetes targeted to low- and middle-income countries to provide equal opportunities for access to medical education for health care professionals...
May 8, 2023: Interactive Journal of Medical Research
#19
MULTICENTER STUDY
Verónica Ilera, Inés Califano, Andrea Cavallo, Eduardo Faure, Adriana Vázquez, Fabián Pitoia
BACKGROUND: In patients with low-risk differentiated thyroid cancer (DTC), remnant ablation with radioiodine (RA) after total thyroidectomy (TT) is controversial. No benefits have been demonstrated in terms of mortality or disease-free survival. Recent evidence found that RA did not improve mid-term outcomes. PURPOSE: To evaluate initial response to treatment and long-term follow-up status in low-risk DTC patients after TT vs. TT + RA with 131 I 1...
June 2023: Endocrine
#20
JOURNAL ARTICLE
Ana Piñar-Gutiérrez, Elena Dios Fuentes, Rosa Benítez-Ávila, Laura de Ana-Lobato, María Del Amor Bueno-Delgado, Alfonso Soto-Moreno, Eva Venegas-Moreno
INTRODUCTION: Intermediate Inborn Errors of Metabolism (IEM) are a group of inherited diseases that include phenylketonuria (PKU), tyrosinemia II (TSII), organic acidaemias and ornithine transcarbamylase deficiency (OTCD), among others. They are increasingly more common in adults due to improved management. This has allowed more affected women to consider having children with good prospects. However, pregnancy may worsen metabolic control and/or increase maternal-fetal complications. The objective is to analyse the characteristics and outcomes of pregnancies of our patients with IEM...
March 2, 2023: Endocrinología, diabetes y nutrición
Make the most of Read.
Download the mobile app.
Download the mobile app.
Fetching more papers... 
