Case report: Novel compound heterozygous mutations as the likely cause of a lethal form of deficiency of interleukin-1 receptor antagonist.

Undiagnosed monogenic diseases represent a challenging group of human conditions highly suspicious to have a genetic origin, but without conclusive evidences about it. We identified two brothers born prematurely from a non-consanguineous healthy couple, with a neonatal-onset, chronic disease characterized by severe skin and bone inflammatory manifestations and a fatal outcome in infancy. We conducted DNA and mRNA analyses in the patients' healthy relatives to identify the genetic cause of the patients' disease.

Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome.

Pathogenic RIPK1 variants have been described as the cause of two different inborn errors of immunity. Biallelic loss-of-function variants cause the recessively inherited RIPK1 deficiency, while monoallelic variants impairing the caspase-8-mediated RIPK1 cleavage provoke a novel autoinflammatory disease (AID) called cleavage-resistant RIPK1-induced autoinflammatory (CRIA) syndrome. The aim of this study was to characterize the pathogenicity of two novel RIPK1 variants located at the cleavage site of caspase-8 detected in patients with dominantly-inherited, early-onset undefined AID.

First Description of Late-Onset Autoinflammatory Disease Due to Somatic NLRC4 Mosaicism.

Objective: Autoinflammatory diseases are inherited disorders of innate immunity that usually start during childhood. However, several recent reports have described an increasing number of patients with autoinflammatory disease starting in adulthood. This study was undertaken to investigate the underlying cause of a case of late-onset uncharacterized autoinflammatory disease.

Admittances characteristics by sepsis in the Spanish internal medicine services between 2005 and 2015: mortality pattern.

Background: Studies in recent years suggest an increase in the incidence of sepsis but a decrease in mortality. The aim of this study is to describe the characteristics of patients discharged after a sepsis episode from Spanish internal medicine services between 2005 and 2015.

Results: Since 2005, in which there were a total of 4,319 cases, sepsis hospitalizations has been consistently increasing yearly reaching a total of 25,820 cases in 2015.

Novel evidences of atypical manifestations in cryopyrin-associated periodic syndromes.

Objectives: Cryopyrin-associated periodic syndromes (CAPS) usually start during infancy as an urticarial-like rash and a marked acute phase response, with additional manifestations appearing during its evolution. The aim of this study was to expand the clinical diversity of CAPS by the description of novel atypical features.

Methods: Clinical data were collected from patients' medical charts.

Prolonged length of stay in hospitalized internal medicine patients.

Background: Targeting patients with prolonged hospitalizations may represent an effective strategy for reducing average hospital length of stay (LOS).

Objective: We sought to characterize predictors of prolonged hospitalization among internal medicine patients in an effort to guide future improvement efforts.

Design: We conducted a retrospective cohort study using administrative data of internal medicine patients from all hospitals of the Spanish Public Health Service between January 1st, 2005 and December 31st, 2013.

The obesity paradox in stroke: impact on mortality and short-term readmission.

Background: The aim of the present study was to assess the association of obesity with the mortality of hospitalized patients with acute stroke and the risk of readmission in less than 30 days.

Methods: A retrospective chart review of a cohort of consecutive patients admitted with stroke as the primary reason for discharge in Spain between January 1, 2005, and December 31, 2011, was performed. Patients with a diagnosis of obesity were identified.

Frequency of hypoglycemia and its impact on length of stay, mortality, and short-term readmission in patients with diabetes hospitalized in internal medicine wards.

Objective: To evaluate whether hypoglycemia is associated with increases in length of stay (LOS), inpatient mortality, and readmission among patients with diabetes hospitalized in internal medicine wards.

Methods: A retrospective cohort study was carried out using the Basic Minimum Data Set registry of the Spanish National Health System, which contains clinical and administrative information for every patient discharged from system hospitals. The analysis included patients discharged between January 2005 and December 2010 and had a primary (i.

Low prevalence of hyponatremia codification in departments of internal medicine and its prognostic implications.

Objective: Hyponatremia is the most frequent ionic disorder among ambulatory and hospitalized populations. The aim of the study is to describe the profile of patients admitted to internal medicine departments of Spanish hospitals with a diagnostic codification of hyponatremia in their discharge sheets.

Methods: Data from the Minimum Basic Data Set (MBDS) of discharged patients from all departments of internal medicine (IM) of the Spanish National Health System (NHS) between 2007 and 2010 were analyzed to describe the profile of patients with diagnostic codification of hyponatremia.

Hip fracture in hospitalized medical patients.

Background: The aim of the present study is to analyze the incidence of hip fracture as a complication of admissions to internal medicine units in Spain.

Methods: We analyzed the clinical data of 2,134,363 adults who had been admitted to internal medicine wards. The main outcome was a diagnosis of hip fracture during hospitalization.

[Nonagenarian patients admitted to Spanish internal medicine hospital departments].

Objective: To describe the demographic and clinical profile of nonagenarian patients admitted to Internal Medicine departments in Spanish hospitals, and to compare it with younger patients.

Methods: We identified, through the MBDS (Basic Minimum Data Set), every patient older than 90 years admitted to Internal Medicine Departments of the Spanish National Health Service public hospitals between 2005- 2008. Hospital discharge data were obtained from the MBDS.

Predictive model of readmission to internal medicine wards.

Objective: Prevention of readmission to hospital is considered an outstanding example of a cost-effective practice. Our aim was to derive and validate a clinically useful index to quantify the risk of readmission among patients discharged from Internal Medicine departments.

Methods: We analysed hospital Basic Minimum Data Sets (BMDS) recorded between 2006 and 2008 to determine patterns of rehospitalization.

Anemia in chronic obstructive pulmonary disease: a readmission prognosis factor.

Objective: The prevalence of comorbid anemia in patients with COPD ranges from 7.5% to 34%. The aim of this study is to determine if anemia is a risk factor for readmission in COPD patients.

Influence of obesity and malnutrition on acute heart failure.

Introduction And Objectives: Obesity is an independent risk factor for the development of heart failure. Several recent studies have found better outcomes of heart failure for obese patients, an observation termed as the "obesity paradox." On the other hand, the negative effect of malnutrition on the evolution of heart failure has also been clearly established.

Venous thromboembolism in COPD hospitalized patients.

Patients with chronic obstructive pulmonary disease (COPD) are at increased risk for venous thromboembolism (VTE). We analyzed a large Spanish database to determine the incidence of VTE in these patients during hospitalization. A retrospective chart review of cohort of consecutive patients admitted with COPD as the primary reason for discharge in Spain between January 1st 2006 and December 31st 2007 was performed.

Admission of nursing home residents to a hospital internal medicine department.

Objective: Hospitalization of nursing home residents is costly and potentially exposes residents to iatrogenic disease and psychological harm.

Design And Setting: In this study, we analyzed the data from the Basic Minimum Data Set of patients hospitalized from the nursing home who were discharged from all the internal medicine departments at the National Health Service hospitals in Spain between 2005 and 2008, according to the data provided by the Ministry of Health and Consumer Affairs.

Results: Between January 2005 and December 2008, 2,134,363 patients were admitted to internal medicine departments in Spain, of whom 45,757 (2.

Prevalence of the notification of malnutrition in the departments of internal medicine and its prognostic implications.

Background & Aims: Detection and notification of malnutrition are essential to adopt a support plan and take costs into account. The aim of this study was to describe how often discharge sheets from Internal Medicine (IM) units include malnutrition among diagnoses (notification frequency) using the International Classification of Diseases, 9th Revision Clinical Modification -ICD-9. Factors associated with this diagnosis and its prognostic implications are also assessed.

Mortality and complications in very old patients (90+) admitted to departments of internal medicine in Spain.

Summary: Patients over 90 years of age (the "very elderly") account for an increasing number of admissions to departments of internal medicine (IM). The aim of this study was to analyse the demographic data, hospitalization characteristics, medical complications, and predictors of mortality in patients over 90 admitted to IM departments.

Material And Methods: All patients admitted to IM departments in Spain between the years 2005 and 2007 were analysed.

Venous thromboembolism in acutely ill hospitalized medical patients.

Background: Acute and chronic illness, immobility, and procedural and pharmacologic interventions may predispose patients in the Internal Medicine Wards to venous thromboembolic disease (VTE). The purpose of this study was to determine the incidence of VTE in these patients.

Materials And Methods: A retrospective chart review of cohort of consecutive patients admitted to Internal Medicine wards in Spain between January 1st 2005 and December 31st 2007 was performed.

Analysis of the mortality of patients admitted to internal medicine wards over the weekend.

The management of patients admitted during weekends may be compromised because the level of staffing in the hospital is often lower then. This study was conducted to assess what independent influence, if any, weekend admission might have on inhospital mortality. The authors analyzed the clinical data of 429,880 adults >14 years of age who were admitted to internal medicine wards in Spain after having presented to the hospitals' emergency departments.

A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases.

Objective: Chronic infantile neurologic, cutaneous, articular syndrome (CINCA), also known as neonatal-onset multisystem inflammatory disease (NOMID), is a severe, early-onset autoinflammatory disease characterized by an urticaria-like rash, arthritis/arthropathy, variable neurologic involvement, and dysmorphic features, which usually respond to interleukin-1 blockade. CINCA/NOMID has been associated with dominant Mendelian inherited NLRP3 mutations. However, conventional sequencing analyses detect true disease-causing mutations in only approximately 55-60% of patients, which suggests the presence of genetic heterogeneity.