Hyperuricemia Is Associated With Higher Mortality in Non-diabetic Heart Failure Patients.

Introduction: Hyperuricemia (HU) is associated with an increased risk of incident heart failure (HF) and adverse HF outcomes. Patients with diabetes mellitus (DM) have a greater prevalence of HU.

Aims: We evaluated the prognostic impact of HU in patients with HF according to the coexistence of DM.

Minimally invasive surgery for pilonidal disease: Outcomes of the Gips technique-A systematic review and meta-analysis.

Background: Pilonidal disease is a common inflammatory condition that significantly impacts quality of life. Currently, there is a tendency to favor minimally invasive procedures. The present review aims to summarize the evidence and assess the outcomes of the Gips procedure.

Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases: Five-year Experience of a Pediatric Tertiary Hospital in Portugal.

Introduction: Neurocutaneous syndromes (NCS) are a heterogeneous group of conditions with multiorgan involvement and diverse manifestations, evolving throughout life with significant morbidity. A multidisciplinary approach to NCS patients has been advocated, although a specific model is not yet established. The aim of this study was 1) to describe the organization of the recently created Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases (MOCND) at a Portuguese pediatric tertiary hospital; 2) to share our institutional experience focusing on the most common conditions, neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC); 3) to analyze the advantages of a multidisciplinary center and approach in NCS.

Benzodiazepine use and mortality in chronic heart failure.

Introduction: The prognostic implications of using benzodiazepines (BZD) in heart failure (HF) patients are still unknown.

Objectives: This study aimed to assess the association of BZD use with all‑cause death in ambulatory, chronic HF patients.

Patients And Methods: We investigated a retrospective cohort of ambulatory HF patients with left ventricular systolic dysfunction (LVSD).

A novel variant of DeSanto-Shinawi Syndrome with joint manifestations.

The clinical features associated with WAC haploinsufficiency include recognizable dysmorphic facial features, variable degrees of developmental delay and intellectual disability that were recently delineated as DeSanto-Shinawi syndrome (OMIM 616708). We describe a patient with DeSanto-Shinawi syndrome caused by a novel frameshift variant in WAC gene (NM_016628.4(WAC):c.

The ratio of furosemide dosage to urinary sodium concentration predicts mortality in patients with chronic stable heart failure.

Introduction: The urinary sodium (UNa) concentration is associated with outcomes in patients with acute heart failure (HF). Its impact in individuals with chronic HF is unknown.

Objectives: This study examined the combined effect of diuretic dosage and UNa concentration in chronic HF.

Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings.

The authors present a new association of two heterozygous TACR3 mutations (p.Arg230His and p.Trp275*) responsible for a clinical trait of normosmic congenital hypogonadotropic hypogonadism in a family.

Age affects the prognostic impact of diabetes in chronic heart failure.

Aims: Increasing age is an established prognostic determinant in chronic heart failure (HF). Diabetes often complicates HF in its course and appears to worsen HF prognosis. A differential impact of diabetes depending on patients' age was not yet studied.

Prognostic prediction in acute heart failure patients with extreme BNP values.

Background: Some patients have good prognosis despite elevated B-type natriuretic peptide (BNP), while others have ominous outcome with low BNP. We aimed at characterising these groups of patients.

Methods: We analysed patients prospectively included in an acute HF registry.

Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case report.

Background: Analphoid supernumerary marker chromosomes (aSMC) constitute one of the smallest groups of SMC, and are characterized by a centromeric constriction but no detectable alpha-satellite DNA. These marker chromosomes cannot be properly identified by conventional banding techniques alone, and molecular cytogenetic methods are necessary for a detailed characterization. Analphoid SMC derived from chromosome 7 are extremely rare, with only five cases reported so far.

Sound Levels and Risk Perceptions of Music Students During Classes.

It is well recognized that professional musicians are at risk of hearing damage due to the exposure to high sound pressure levels during music playing. However, it is important to recognize that the musicians' exposure may start early in the course of their training as students in the classroom and at home. Studies regarding sound exposure of music students and their hearing disorders are scarce and do not take into account important influencing variables.

Low prealbumin is strongly associated with adverse outcome in heart failure.

Objective: Prealbumin is one of the best indicators of nutritional status. We previously showed that prealbumin predicted in-hospital mortality in heart failure (HF) patients. We evaluated if a low discharge prealbumin after admission with acute HF would predict morbidity and mortality.

Prognostic value of neutrophil gelatinase-associated lipocalin in acute heart failure.

Background: The identification of patients at risk for worse outcome is still a challenge. We hypothesized that cystatin C, a marker of renal function, and neutrophil gelatinase-associated lipocalin (NGAL), a marker of acute renal injury, would have a role in the prognostic stratification of these patients.

Methods: We prospectively evaluated 121 patients admitted for acute HF.

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.

Schinzel-Giedion syndrome is characterized by severe mental retardation, distinctive facial features and multiple congenital malformations; most affected individuals die before the age of ten. We sequenced the exomes of four affected individuals (cases) and found heterozygous de novo variants in SETBP1 in all four. We also identified SETBP1 mutations in eight additional cases using Sanger sequencing.

Tetra-amelia and lung hypo/aplasia syndrome: new case report and review.

Tetra-amelia is a rare malformation that may be associated with other anomalies and is usually inherited in an autosomal recessive pattern. We describe a fetus, born to a nonconsanguineous couple, with tetra-amelia, bilateral cleft lip and palate and bilateral lung agenesis, without other anomalies. Karyotype was normal (46,XX) and premature centromere separation was excluded.