Lung Ultrasound Findings Detected During Inpatient Echocardiography Are Common and Associated With Short- and Long-term Mortality.

OBJECTIVES: Although pulmonary abnormalities are easily seen with standard echocardiography or pocket-sized ultrasound devices, we sought to observe the prevalence of lung ultrasound apical B-lines and pleural effusions and their associations with inpatient, 1-year, and 5-year mortality when found in hospitalized patients referred for echocardiography. METHODS: We reviewed 486 initial echocardiograms obtained from consecutive inpatients over a 3-month period, in which each examination included 4 supplemental images of the apex and the base of both lungs. Kaplan-Meier survival curves were used to compare mortality rates among patients with versus without lung findings. Cox proportional hazard regression was used to determine the relative contributions of age, sex, effusions, and B-lines to overall mortality. RESULTS: Of the 486 studies, the mean patient age ± SD was 68 ± 17 years; the median age was 70 years (interquartile range, 27 years); and 191 (39%) had abnormal lung findings. The presence versus absence of abnormal lung findings was related to initial-hospital (8.9% versus 2.0%; P = .001), 1-year (33% versus 14%; P < .001), and 5-year (56% versus 31%; P < .001) mortality. Ultrasound apical B-lines and pleural effusions were both independently associated with increased mortality during initial hospitalization (hazard ratio [HR], 4.3; 95% confidence interval [CI], 1.7-11.0; and HR, 2.5; 95% CI, 1.1-6.0, respectively). Pleural effusions were also associated with increased 1-year mortality (HR, 2.3; 95% CI, 1.5-3.4). CONCLUSIONS: In hospitalized patients undergoing echocardiography, the simple addition of 4 quick 2-dimensional pulmonary views to the echocardiogram often detects abnormal findings that have important implications for short- and long-term mortality.

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients.

We recently identified KCNC3, encoding the Kv3.3 voltage-gated potassium channel, as the gene mutated in SCA13. One g.10684G>A (p.Arg420His) mutation caused late-onset ataxia resulting in a nonfunctional channel subunit with dominant-negative properties. A French early-onset pedigree with mild mental retardation segregated a g.10767T>C (p.Phe448Leu) mutation. This mutation changed the relative stability of the channel's open conformation. Coding exons were amplified and sequenced in 260 autosomal-dominant ataxia index cases of European descent. Functional analyses were performed using expression in Xenopus oocytes. The previously identified p.Arg420His mutation occurred in three families with late-onset ataxia. A novel mutation g.10693G>A (p.Arg423His) was identified in two families with early-onset. In one pedigree, a novel g.10522G>A (p.Arg366His) sequence variant was seen in one index case but did not segregate with affected status in the respective family. In a heterologous expression system, the p.Arg423His mutation exhibited dominant-negative properties. The p.Arg420His mutation, which results in a nonfunctional channel subunit, was recurrent and associated with late-onset progressive ataxia. In two families the p.Arg423His mutation was associated with early-onset slow-progressive ataxia. Despite a phenotype reminiscent of the p.Phe448Leu mutation, segregating in a large early-onset French pedigree, the p.Arg423His mutation resulted in a nonfunctional subunit with a strong dominant-negative effect.

Bivalvular endocarditis due to Granulicatella adiacens.

PATIENT: Male, 50 FINAL DIAGNOSIS: Bivalvular endocarditis due to Granulicatella adiacens Symptoms: Fever • fatigue MEDICATION: - Clinical Procedure: Echocardiogram • valve replacement surgery Specialty: Infectious Diseases. OBJECTIVE: Rare disease. BACKGROUND: Infective endocarditis remains a prominent cause of morbidity and mortality worldwide. It has been estimated that 50% of cases are caused by streptococcal organisms. Abiotrophia and Granulicatella, often grouped as nutritionally variant streptococci (NVS), have become recognized as the cause of nearly 5% of infective endocarditis cases. NVS endocarditis historically has a higher rate of morbidity and mortality, partially due to difficulties in adequately culturing and treating the causative organisms. CASE REPORT: In this report, we review the complicated hospital course and successful treatment of a middle aged Hispanic gentleman who presented with systemic symptoms of fevers, chills and weight loss over 3 months. He was found to have Granulicatella infective endocarditis of the mitral and aortic valves, presumably from a dental source. Despite severe valvular insufficiency noted on echocardiogram, the patient did not initially present with any symptoms of decompensated heart failure. With adequate antibiotic therapy followed by replacement of both valves, the patient had a successful recovery. CONCLUSIONS: This case report highlights the growing role that nutritionally variant streptococcus plays in endocarditis and how crucial early identification of the organism is to proper treatment. A brief literature review is also included about the diagnosis and recommended management of nutritionally variant streptococcal endocarditis.

Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).

BACKGROUND: Gain-of function or dominant-negative mutations in the voltage-gated potassium channel KCNC3 (Kv3.3) were recently identified as a cause of autosomal dominant spinocerebellar ataxia. Our objective was to describe the frequency of mutations associated with KCNC3 in a large cohort of index patients with sporadic or familial ataxia presenting to three US ataxia clinics at academic medical centers. METHODOLOGY: DNA sequence analysis of the coding region of the KCNC3 gene was performed in 327 index cases with ataxia. Analysis of channel function was performed by expression of DNA variants in Xenopus oocytes. PRINCIPAL FINDINGS: Sequence analysis revealed two non-synonymous substitutions in exon 2 and five intronic changes, which were not predicted to alter splicing. We identified another pedigree with the p.Arg423His mutation in the highly conserved S4 domain of this channel. This family had an early-onset of disease and associated seizures in one individual. The second coding change, p.Gly263Asp, subtly altered biophysical properties of the channel, but was unlikely to be disease-associated as it occurred in an individual with an expansion of the CAG repeat in the CACNA1A calcium channel. CONCLUSIONS: Mutations in KCNC3 are a rare cause of spinocerebellar ataxia with a frequency of less than 1%. The p.Arg423His mutation is recurrent in different populations and associated with early onset. In contrast to previous p.Arg423His mutation carriers, we now observed seizures and mild mental retardation in one individual. This study confirms the wide phenotypic spectrum in SCA13.