Adult Pompe disease: Analysis of 13 patients.

Introduction: Pompe Disease (PD) is a lysosomal disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA), primarily manifesting as a progressive myopathy with early respiratory involvement. Enzyme replacement therapy (ERT) is available since 2006.

Materials And Methods: We describe 13 patients with partial GAA deficiency, followed at Hospital 12 de Octubre, 8 of whom were receiving treatment.

II National Congress of Paediatrics: The fight against child mortality.

In the present work, we present an overview of the contents of the communications presented at the Second National Congress of Paediatrics, held in San Sebastian in 1923, on the occasion of the 100th year anniversary. The problem of infant mortality stands out as a common thread, which in those years was very high in Spain and was a concern of politicians, intellectuals and the medical profession. It is worth noting that some of the proposals and concerns of the paediatricians who attended that congress continue to be relevant today.

XEN-45 in the management of early glaucoma surgery: A national Delphi consensus study.

Background And Objective: Recommendations on general glaucoma management and the use of early minimally invasive and microincisional surgeries are limited. This study aimed to establish consensus regarding glaucoma management, focusing on the XEN-45 gel stent implant.

Methods: A Delphi consensus-driven process was used.

RECALMIN IV. Evolution in the activity of internal medicine units of the National Health System (2008-2021).

Aims: This work aims to analyze the structure, activity, and outcomes of internal medicine units and departments (IMU) of the Spanish National Health System (SNHS) and to analyze the challenges for the specialty and propose policies for improvement. It also aims to compare the results from the 2021 RECALMIN survey with IMU surveys from previous years (2008, 2015, 2017, 2019).

Methods: This work is a cross-sectional, descriptive study of IMUs in acute care general hospitals of the SNHS that compares data from 2020 with previous studies.

Consensus guide on prophylactic gonadectomy in different sex development.

The risk of suffering from gonadal germ cell tumors (GCT) is increased in some patients with different sexual development (DSD), mainly in those with Y chromosome material. This risk, however, varies considerably depending on a multitude of factors that make the decision for prophylactic gonadectomy extremely difficult. In order to make informed recommendations on the convenience of this procedure in cases where there is potential for malignancy, this consensus guide evaluates the latest clinical evidence, which is generally low, and updates the existing knowledge in this field.

Immigrant IBD Patients in Spain Are Younger, Have More Extraintestinal Manifestations and Use More Biologics Than Native Patients.

Background: Previous studies comparing immigrant ethnic groups and native patients with IBD have yielded clinical and phenotypic differences. To date, no study has focused on the immigrant IBD population in Spain.

Methods: Prospective, observational, multicenter study comparing cohorts of IBD patients from ENEIDA-registry who were born outside Spain with a cohort of native patients.

Factors associated with in-hospital mortality and readmission in a cohort of patients treated with noninvasive ventilation during emergency department or out-of-hospital emergency care: the VentilaMadrid study.

Objectives: To describe clinical, outcome, and risk factors in a cohort of patients treated with noninvasive ventilation (NIV) in a hospital emergency department (ED) or by out-of-hospital emergency medical services (OHEMSs).

Material And Methods: Multicenter, prospective cohort study enrolling consecutive patients with acute pulmonary edema and/or exacerbated chronic obstructive pulmonary disease who were treated with NIV between November 2018 and November 2020 in a hospital ED or OHEMS setting in Madrid. We recorded baseline data, variables related to the acute episode, and outcome variables, including in-hospital mortality and 30-day readmission.

[Primary testicular lymphoma. Two new case reports].

Primary testicular lymphoma is a very rare entity. However, its clinical course is poor with a high recurrence and low survival rate. Given its low prevalence, we present 2cases with an update on the treatment and progression of this disease.

[Opinions and experiences of healthcare professionals in the nutritional management of oncology patients: the ONA study].

Objectives: an inadequate approach to prevent malnutrition in cancer patients may worsen their quality of life and reduce their response to treatment. This study aims to describe the nutritional management of cancer patients in clinical practice, as well as the opinions of the healthcare professionals (HCPs) involved. Methods: this was an observational, descriptive, cross-sectional study addressed to HCPs in the Spanish healthcare setting.

Hospital Pharmacist experience in the Intensive Care Unit: Plan COVID.

The Intensive Care Unit (ICU) of the University Hospital of Fuenlabrada was  forced to critically increase its capacity in the COVID-19 pandemic. The objective of this work is to describe the activities promoted by the pharmacist in the care  of the critically ill patient in this context. A new organizational structure was  designed, analyzing the tasks necessary to make the processes profitable.

[Observational gait scale for persons with lower extremity amputation. Design and content validity].

Introduction: Gait pattern is altered in persons with lower extremity amputation. To assess gait pattern, it is important to use observational gait scales with a good content validity.

Objectives: To design an observational gait scale and to analyze its content validity.

Clinical characteristics and prognosis for delirium in Spanish internal medicine departments: An analysis from a large clinical-administrative database.

Objectives: To investigate the prevalence of reported delirium and its associated factors and costs.

Design: Retrospective and descriptive analysis of a national clinical-administrative database that includes all patients hospitalised in Spain in internal medicine departments from January 2007 to December 2014.

Material And Method: The study included the patients' sociodemographic and clinical data (sex, age, diagnosis and procedures).

[On the 50th anniversary of Anales de Pediatría, official publication of the Spanish Association of Paediatrics].

The 50th Anniversary of Anales de Pediatría is a good time for the celebration of events and tributes, and also for critical thought. Anales de Pediatría is the official publication of scientific expression of the Spanish Association of Paediatrics (AEP). It has been published continuously since October 1968.

Fasting glucose in the first trimester: An initial approach to diagnosis of gestational diabetes.

Objectives: To establish whether fasting glucose levels in the first trimester (FGFT)of pregnancy ≥ 92 mg/dL (5.1 mmol/L) (FGFT) anticipate the occurrence of maternal-fetal complications of gestational diabetes mellitus. To assess whether FGFT can replace diagnosis of GDM using the classical two-step oral glucose tolerance test (OGTT).

Evaluation of Structure Indicators for Assessing Skin Cancer Quality of Care in Dermatology Departments.

Introduction And Objectives: A series of quality indicators for melanoma and nonmelanoma skin cancer were recently approved within a project promoted by the Healthy Skin Foundation of the Spanish AEDV. The aim of this study was to evaluate adherence to these indicators.

Material And Methods: In November 2016, an anonymous questionnaire consisting of 32 items was sent to the heads of Spanish dermatology and venereology departments listed in the AEDV's database.

Derivation and validation of a predictive model for the readmission of patients with diabetes mellitus treated in internal medicine departments.

Objectives: We developed a predictive model for the hospital readmission of patients with diabetes. The objective was to identify the frail population that requires additional strategies to prevent readmissions at 90 days.

Methods: Using data collected from 1977 patients in 3 studies on the national prevalence of diabetes (2015-2017), we developed and validated a predictive model of readmission at 90 days for patients with diabetes.

[Reccomendations for the care of adults with Down's syndrome. Literature review].

Over the years, the life expectancy for individuals with Down syndrome (DS) has increased significantly. This fact involves a higher risk for developing numerous medical conditions associated with the aging of adults with DS. A high level of awareness is required by the professional, due to the lack of clinical expressiveness and their higher pain threshold, often makes the diagnosis difficult.

Prevalence of peripheral artery disease (PAD) and factors associated: An epidemiological analysis from the population-based Screening PRE-diabetes and type 2 DIAbetes (SPREDIA-2) study.

Aim: To describe the prevalence of Peripheral Artery Disease (PAD) in a random population sample and to evaluate its relationship with Mediterranean diet and with other potential cardiovascular risk factors such as serum uric acid and pulse pressure in individuals ranged 45 to 74 years.

Methods: Cross-sectional analysis of 1568 subjects (mean age 6.5 years, 43% males), randomly selected from the population.

Clinical characteristics of patients with central nervous system relapse in BCR-ABL1-positive acute lymphoblastic leukemia: the importance of characterizing ABL1 mutations in cerebrospinal fluid.

We investigated the frequency, predictors, and evolution of acute lymphoblastic leukemia (ALL) in patients with CNS relapse and introduced a novel method for studying BCR-ABL1 protein variants in cDNA from bone marrow (BM) and cerebrospinal fluid (CSF) blast cells. A total of 128 patients were analyzed in two PETHEMA clinical trials. All achieved complete remission after imatinib treatment.

Performance of the Finnish Diabetes Risk Score and a Simplified Finnish Diabetes Risk Score in a Community-Based, Cross-Sectional Programme for Screening of Undiagnosed Type 2 Diabetes Mellitus and Dysglycaemia in Madrid, Spain: The SPREDIA-2 Study.

Aim: To evaluate the performance of the Finnish Diabetes Risk Score (FINDRISC) and a simplified FINDRISC score (MADRISC) in screening for undiagnosed type 2 diabetes mellitus (UT2DM) and dysglycaemia.

Methods: A population-based, cross-sectional, descriptive study was carried out with participants with UT2DM, ranged between 45-74 years and lived in two districts in the north of metropolitan Madrid (Spain). The FINDRISC and MADRISC scores were evaluated using the area under the receiver operating characteristic curve method (ROC-AUC).

Tuberculosis in Anti-Tumour Necrosis Factor-treated Inflammatory Bowel Disease Patients After the Implementation of Preventive Measures: Compliance With Recommendations and Safety of Retreatment.

Background And Aims: Despite having adopted preventive measures, tuberculosis (TB) may still occur in patients with inflammatory bowel disease (IBD) treated with anti-tumour necrosis factor (anti-TNF). Data on the causes and characteristics of TB cases in this scenario are lacking. Our aim was to describe the characteristics of TB in anti-TNF-treated IBD patients after the publication of the Spanish TB prevention guidelines in IBD patients and to evaluate the safety of restarting anti-TNF after a TB diagnosis.