Autoimmune Type 1 Diabetes: An Early Approach Appraisal for Spain by the AGORA Diabetes Collaborative Group.

Type 1 diabetes (T1D) is an autoimmune disorder characterized by the destruction of insulin-producing pancreatic beta-cells, leading to lifelong insulin dependence. This review explores the current understanding of T1D pathogenesis, clinical progression, and emerging therapeutic approaches. We examined the complex interplay between genetic predisposition and environmental factors that could trigger the autoimmune response as well as the immunological mechanisms involved in beta-cell destruction.

Diabetes Management Based on the Phenotype and Stage of the Disease: An Expert Proposal from the AGORA Diabetes Collaborative Group.

Diabetes is a complex and rapidly growing disease with heterogeneous clinical presentations. Recent advances in molecular and genetic technologies have led to the identification of various subtypes of diabetes. These advancements offer the potential for a more precise, individualized approach to treatment, known as precision medicine.

First-line therapy with palbociclib in patients with advanced HR/HER2 breast cancer: The real-life study PALBOSPAIN.

Purpose: To evaluate the efficacy and safety of first-line therapy with palbociclib in a Spanish cohort treated after palbociclib approval.

Methods: PALBOSPAIN is an observational, retrospective, multicenter study evaluating real-world patterns and outcomes with 1 L palbociclib in men and women (any menopausal status) with advanced HR/HER2- BC diagnosed between November 2017 and November 2019. The primary endpoint was real-world progression-free survival (rw-PFS).

Multigene germline testing usefulness instead of BRCA1/2 single screening in triple negative breast cancer cases.

Triple negative breast cancer is considered as the worst aggressive subtype with poor prognosis. Recent studies suggest a hereditary component is involved in TNBC development, especially in young patients. However, genetic spectrum remains unclear.

Acute Hypoxemic Respiratory Failure in Children at the Start of COVID-19 Outbreak: A Nationwide Experience.

Study Design: This is a prospective, multicenter, and observational study with the aim of describing physiological characteristics, respiratory management, and outcomes of children with acute hypoxemic respiratory failure (AHRF) from different etiologies receiving invasive mechanical ventilation (IMV) compared with those affected by SARS-CoV-2.

Methods And Main Results: Twenty-eight patients met the inclusion criteria: 9 patients with coronavirus disease 2019 (COVID-19) and 19 patients without COVID-19. Non-COVID-19 patients had more pre-existing comorbidities (78.

Surveillance for Enteroviruses Associated with Hand, Foot, and Mouth Disease, and Other Mucocutaneous Symptoms in Spain, 2006-2020.

Hand, foot, and mouth disease (HFMD) is a mild illness caused by enteroviruses (EV), although in some Asian countries, large outbreaks have been reported in the last 25 years, with a considerable incidence of neurological complications. This study describes epidemiological and clinical characteristics of EV infections involved in HFMD and other mucocutaneous symptoms from 2006 to 2020 in Spain. EV-positive samples from 368 patients were included.

Validity and Cost-Effectiveness of Pediatric Home Respiratory Polygraphy for the Diagnosis of Obstructive Sleep Apnea in Children: Rationale, Study Design, and Methodology.

Obstructive sleep apnea (OSA) in children is a prevalent, albeit largely undiagnosed disease associated with a large spectrum of morbidities. Overnight in-lab polysomnography remains the gold standard diagnostic approach, but is time-consuming, inconvenient, and expensive, and not readily available in many places. Simplified Home Respiratory Polygraphy (HRP) approaches have been proposed to reduce costs and facilitate the diagnostic process.

Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.

In this study, we aim to gain insight in the germline mutation spectrum of , , , , , and in breast and ovarian cancer families from Spain. We have selected 180 index cases in whom a germline mutation in BRCA1 and BRCA2 was previously ruled out. The importance of disease-causing variants in these genes lies in the fact that they may have possible therapeutic implications according to clinical guidelines.

Quality of life of patients with metastatic pancreatic adenocarcinoma initiating first-line chemotherapy in routine practice.

Background: Despite advances in surgery, radiotherapy, and chemotherapy, pancreatic adenocarcinoma often progresses rapidly and causes death. The physical decline of these patients is expected to impact their quality of life (QoL). Therefore, in addition to objective measures of effectiveness, the evaluation of health-related QoL should be considered a matter of major concern when assessing therapy outcomes.

A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.

Background: In the context of our Regional Program of Hereditary Cancer, individuals fulfilling the criteria are tested for germline mutations to subsequently establish the clinical management. Our standard diagnostic approach focuses on sequencing a few classic high-risk genes, a method that frequently renders uninformative genetic results. This study aims to examine the improved yield offered by an On-Demand panel.

Ivabradine for chronic heart rate control in persistent atrial fibrillation. Design of the BRAKE-AF project.

Introduction And Objectives: Ivabradine is an inhibitor of the If channel, the main determinant of the pacemaker function of the sinus node. The drug has been approved for the treatment of angina and heart failure. There is some evidence of its role as an inhibitor of atrial-ventricular node (AVN) conduction.

Molecular epidemiology of an enterovirus A71 outbreak associated with severe neurological disease, Spain, 2016.

IntroductionEnterovirus A71 (EV-A71) is an emerging pathogen that causes a wide range of disorders including severe neurological manifestations. In the past 20 years, this virus has been associated with large outbreaks of hand, foot and mouth disease with neurological complications in the Asia-Pacific region, while in Europe mainly sporadic cases have been reported. In spring 2016, however, an EV-A71 outbreak associated with severe neurological cases was reported in Catalonia and spread further to other Spanish regions.

A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer.

Explaining genetic predisposition in Hereditary Breast and Ovarian Cancer (HBOC) families without BRCA mutations is crucial. Germline PALB2 inactivating mutations were associated with an increased risk of HBOC due to its role in DNA repair through cooperation with BRCA proteins. The prevalence and penetrance of PALB2 mutations in Spanish HBOC patients remains unexplained.

Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer.

BRIP1 is a component of the Fanconi Anemia/BRCA pathway responsible for DNA reparation via helicase activity. Some heterozygous variants in BRIP1 could contribute to Hereditary Breast Cancer through a defective DNA repair. The clinical utility of BRIP1 mutations in a familial cancer context is compromised by the conflicting interpretation of "variants of uncertain significance" (VUS).

Procedural, Functional and Prognostic Outcomes Following Recanalization of Coronary Chronic Total Occlusions. Results of the Iberian Registry.

Introduction And Objectives: There is current controversy regarding the benefits of percutaneous recanalization (PCI) of chronic total coronary occlusions (CTO). Our aim was to determine acute and follow-up outcomes in our setting.

Methods: Two-year prospective registry of consecutive patients undergoing PCI of CTO in 24 centers.

[Intima-media thickness in a middle-old age sample of the Spanish general population].

Objectives: To ascertain reference values of carotid intima-media thickness (cIMT) in a middle and old-aged sample of the Spanish general population and to establish the 75(th) percentile above which it is necessary to control more strictly other cardiovascular risk factors. To determine cIMT values and the number of carotid plaques in age and sex subgroups, and whether there are differences between them.

Material And Methods: Lipids, apolipoproteins, number of carotid atherosclerotic plaques if any, and cIMT of both common carotid arteries were determined in 171 individuals, representative of the adult general population of Burgos (Spain).

[Acute mastoiditis in the pneumococcal vaccine era].

Introduction And Objectives: Acute mastoiditis is the most common complication of acute otitis media. Recent studies have noticed an increase in cases. The goal of this study was to review acute mastoiditis cases diagnosed in children younger than 14 years old.

[Cerebral oximetry monitoring during bypass surgery: can the approach be changed?].

We describe the detection of postoperative neurologic complications by means of monitoring cerebral oximetry during cardiac surgery. A 54-year-old man underwent emergency surgery for aortic dissection, type A. Cerebral oximetry was monitored by near-infrared spectroscopy.

[Thymic hyperplasia in a patient with Graves' disease].

Benign thymic hyperplasia (TH) is a known feature of hyperthyroidism. In most cases, thymic enlargement is minimal; however, this syndrome may occasionally appear as an appreciable anterior mediastinal mass. Recognition of the benign nature of TH and its regression following treatment of the hyperthyroidism is important to prevent unnecessary surgical procedures.

Hyperandrogenism in a postmenopausal woman.

Ovarian androgen hypersecretion is a wellrecognized cause of hirsutism and virilization in postmenopausal women. Postmenopausal ovarian hyperthecosis is a nonneoplastic functional disorder, which results from abnormal regulation of ovarian steroidogenesis. We present a patient with postmenopausal hyperandrogenism due to ovarian hyperthecosis.

Hemiballism due to hyperglycemic hyperosmolar syndrome.

Non-ketotic hyperglycemia has occasionally been associated with various neurological abnormalities including movement disorders. Hyperglycemic hyperosmolar syndrome (HHS) is the second most common cause of hemiballism-hemichorea, which is due to a contralateral putaminal lesion. We describe a 95-year-old woman with HHS who developed hemichorea-hemiballism syndrome due to a putaminal lesion.

[Cost per episode of care in the surgical treatment of skin cancer].

Background: Skin cancer is the most common form of malignancy in humans. It can be treated with various techniques and by different specialists. The procedure with the lowest failure rates is surgical excision.

[Oral itraconazole for treatment of a candida parapsilosis endophthalmitis case].

Clinical Case: A case of exogenous Candida parapsilosis endophthalmitis was treated first with oral fluconazol and later with intravenous Anfotericin without success. A subsequent therapy using topical fluconazole and oral itraconazole appeared to be effective in controlled the infection.

Discussion: Current elective treatment for fungal endophthalmitis is Anfotericine B i.