RADIOLOGY OF THE MONTH: Vocal Cord Dysfunction with Multiple Cranial Neuropathies.

A 67-year-old female presented to our institution with a progressive history of hoarseness for the past six months. The patient also referred shoulder weakness and cough during the same period of time. She denied weight loss and tobacco use.

Evaluation of psychosomatic distress and its influence in the outcomes of lumbar fusion procedures for degenerative disorders of the spine.

The authors aim to evaluate the ability of spine surgeons to subjectively identify patients with psychological distress in a subset of lumbar fusion candidates, and the influence of such factors on surgical outcomes. From a cohort of 85 patients who had received a surgical indication for lumbar fusion and were subjectively evaluated for psychological distress, 60 were included in the study and underwent objective evaluation using the Distress Risk Assessment Method (DRAM) evaluation for depressive/distress symptoms, VAS and Oswestry scores pre- and postoperatively. Fifty-six patients were available with a minimum 6-month follow-up: 20 presented with normal DRAM scores, and 36 with abnormal DRAM (28 at risk; 4 distressed somatic; 4 distressed depressive).

A Next-Generation Sequencing of the NOTCH3 and HTRA1 Genes in CADASIL Patients.

Our purpose was to develop a next-generation sequencing procedure to search for NOTCH3 and HTRA1 mutations in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) features. A total of 70 patients were sequenced with semiconductor chips in an Ion Torrent Personal Genome Machine. The putative mutations were confirmed through Sanger sequencing of the corresponding patient.

A Semiconductor Chip-Based Next Generation Sequencing Procedure for the Main Pulmonary Hypertension Genes.

The aim of this study was to characterize the mutational spectrum of pulmonary hypertension (PH) patients through a next generation sequencing platform. In a total of 22 patients, the BMPR2, SMAD9, CAV1, KCNK3, and EIF2AK4 genes were sequenced with semiconductor chips and the ion torrent personal genome machine. We found six putative mutations in SMAD (p.

Performance characteristics of loci method for measuring cardiac troponin I on the dimension EXL.

Objective: To define the performance characteristics of the LOCI method for cardiac troponin I on the Dimension EXL system.

Designs And Methods: Three different levels of commercial control (mean concentrations 0.426, 1.

The Cw6 and late-cornified envelope genotype plays a significant role in anti-tumor necrosis factor response among psoriatic patients.

Our aim was to determine whether the HLA-Cw6 and late-cornified envelope (LCE) deletion polymorphisms were related to disease improvement among psoriasis patients treated with anti-tumor necrosis factor (TNF) antibodies. The study included a total of 116 patients. Positive response (68%) was defined as a reduction of at least 75% of the Psoriasis Area and Severity Index (PASI) after 24 weeks of starting the anti-TNF therapy.

ABCB1 (MDR-1) pharmacogenetics of tacrolimus in renal transplanted patients: a Next Generation Sequencing approach.

Background: A CYP3A5 gene polymorphism is the main determinant of Tacrolimus (Tac) dose requirements among renal transplanted patients. In spite of the utility of CYP3A5 genotyping to predict the Tac-dose, many patients exhibit an out of range blood Tac level and it is thus likely that other genes/polymorphisms contribute to define Tac bioavailability. To address this issue we searched for coding sequence variants in the ABCB1/MDR1 gene in renal transplanted patients treated with Tac and who had out of the range blood levels.

A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients.

The Sanger sequencing of patients with recessive polycystic kidney disease is challenging due to the length and heterogeneous mutational spectrum of the PKHD1 gene. Next generation sequencing (NGS) might thus be of special interest to search for PKHD1 mutations. The study involved a total of 22 patients with autosomal recessive polycystic kidney disease (ARPKD) and 8 parents of non-available ARPKD patients.

The donor ABCB1 (MDR-1) C3435T polymorphism is a determinant of the graft glomerular filtration rate among tacrolimus treated kidney transplanted patients.

The ABCB1 gene encodes the P-glycoprotein (P-gp) that drives the transmembrane efflux of many drugs. The donor ABCB1 polymorphisms have been related with chronic histological damage and long-term renal function among kidney transplanted patients who received cyclosporine A and tacrolimus (Tac). The aim of our study was to determine whether the donor ABCB1 3435 C/T genotype was related with renal function among Tac-treated renal transplanted patients.

Association between the IL17RA rs4819554 polymorphism and reduced renal filtration rate in the Spanish RENASTUR cohort.

DNA variants at the genes that encode components of the IL17-pathway may contribute to the risk of impaired renal function/chronic kidney disease. Our aim was to determine whether common IL17RA single nucleotide polymorphisms (SNPs) were associated with a reduced estimated glomerular filtration rate (eGFR) in a cohort of healthy elderly individuals (n=650). We found a significantly higher frequency of SNP rs4819554 AA homozygotes among individuals with eGFR<60 ml/min/1.

A Double-Blind, Placebo-Controlled Comparator Study of LY2140023 monohydrate in patients with schizophrenia.

Background: Pomaglumetad methionil (LY2140023 monohydrate) is a potent and highly selective agonist for the metabotropic glutamate mGluR2 and mGluR3 receptors. We present results of a pivotal clinical study H8Y-MC-HBBM assessing the efficacy of LY2140023 in improving symptoms as a monotherapy in patients with an acute exacerbation of schizophrenia.

Methods: Enrolled adult patients (ages 18-65) with schizophrenia who had experienced an exacerbation of symptoms within 2 weeks prior to study entry.

The TNFRSF1B rs1061622 polymorphism (p.M196R) is associated with biological drug outcome in Psoriasis patients.

Genetic factors are involved not only in the overall risk of suffering psoriasis, but also in their clinical characteristics and eventually in drug outcome. Biological therapies have dramatically improved the prognosis of Psoriasis. However, these treatments are very expensive and patients often exhibit a heterogeneous response that could be partially attributed to their genetic background.

Time-dependent responses to provocative testing with flecainide in the diagnosis of Brugada syndrome.

Background: Time-dependent variability of electrocardiogram (ECG) in patients with Brugada syndrome could affect the interpretation of provocative testing.

Objective: The aim of this study was to characterize ECG changes during and after flecainide infusion.

Methods: We studied 59 consecutive patients.

Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy.

Mutations in different genes encoding sarcomeric proteins are responsible for 50-60% of familial cases of hypertrophic cardiomyopathy (HCM); however, the genetic alterations causing the disease in one-third of patients are currently unknown. Here we describe a case with familial HCM of unknown cause. Whole-exome sequencing reveals a variant in the gene encoding the sarcomeric protein filamin C (p.

Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing.

Background: Mutations in at least 30 genes have been linked to hypertrophic cardiomyopathy (HCM). Due to the large size of the main HCM genes, Sanger sequencing is labor intensive and expensive. The purpose was to develop a next-generation sequencing (NGS) procedure for the main HCM genes.

The influence of ripeness grade on the composition of musts and wines from Vitis vinifera cv. Tempranillo grown in a warm climate.

Fruit ripeness has an influence on the phenolic and aromatic composition of grapes and musts and, therefore, on the sensorial characteristics of the resulting wine. The aim of the work described here was to assess the influence of the harvest date on the analytical composition of the musts and wines from the Vitis vinifera cv. Tempranillo grape grown in a warm climate.

The effects of ghrelin antagonists [D-Lys(3) ]-GHRP-6 or JMV2959 on ethanol, water, and food intake in C57BL/6J mice.

Background: Alcohol use and abuse patterns have created a need for novel treatment models. Current research has turned its focus on reward pathways associated with intrinsic necessities, such as feeding. Theories suggest that drugs of abuse seize control of natural reward pathways and dysregulate normal function, leading to chronic addiction.

Effect of the FTO rs9930506 Polymorphism on the Main Comorbidities of the Cardiorenal Metabolic Syndrome in an Elderly Spanish Cohort.

Background/aim: Fat mass and obesity-associated (FTO) gene polymorphisms have been linked to the risk of obesity and diabetes, two well-recognized risk factors for renal disease. Our aim was to determine whether a common FTO polymorphism was associated with a reduced estimated glomerular filtration rate (eGFR) independently of body mass index (BMI) and type 2 diabetes mellitus (T2DM) in a cohort of elderly individuals from the region of Asturias (Northern Spain; RENASTUR cohort).

Methods: A total of 544 Spanish Caucasians aged 55-85 years were genotyped for the FTO rs9930506 single-nucleotide polymorphism (SNP).

Electrophysiological and structural remodeling in heart failure modulate arrhythmogenesis. 1D simulation study.

Background: Heart failure is a final common pathway or descriptor for various cardiac pathologies. It is associated with sudden cardiac death, which is frequently caused by ventricular arrhythmias. Electrophysiological remodeling, intercellular uncoupling, fibrosis and autonomic imbalance have been identified as major arrhythmogenic factors in heart failure etiology and progression.

Initial force systems during bodily tooth movement with plastic aligners and composite attachments: A three-dimensional finite element analysis.

Objective: To describe, using a three-dimensional finite element (FE) model, the initial force system generated during bodily movement of upper canines with plastic aligners with and without composite attachments.

Materials And Methods: A CAD model of an upper right canine, its alveolar bone and periodontal ligament, thermoformed plastic aligner, and two light-cured composite attachments were constructed. A FE model was used to analyze the effects of imposing a distal movement condition of 0.

A long-term macroecological analysis of the recovery of a waterbird metacommunity after site protection.

We used the so called "land-bridge island" or "nested-subsets" theory to test the resilience of a highly fragmented and perturbated waterbird metacommunity, after legal protection of 18 wetlands in the western Mediterranean. Sites were monitored during 28 years and two seasons per year. The metacommunity was composed by 44 species during breeding and 67 species during wintering, including shorebirds, ducks, herons, gulls and divers (Podicipedidae).

Electrophysiological and structural remodeling in heart failure modulate arrhythmogenesis. 2D simulation study.

Background: Heart failure is operationally defined as the inability of the heart to maintain blood flow to meet the needs of the body and it is the final common pathway of various cardiac pathologies. Electrophysiological remodeling, intercellular uncoupling and a pro-fibrotic response have been identified as major arrhythmogenic factors in heart failure.

Objective: In this study we investigate vulnerability to reentry under heart failure conditions by incorporating established electrophysiological and anatomical remodeling using computer simulations.

A labor- and cost-effective non-optical semiconductor (Ion Torrent) next-generation sequencing of the SLC12A3 and CLCNKA/B genes in Gitelman's syndrome patients.

Gitelman's syndrome (GS) is a rare recessive disorder caused by mutations in the renal salt-handling genes SLC12A3 and CLCNKB. Our aim was to develop a next-generation sequencing (NGS) procedure for these genes based on two-tubes multiplex amplification of DNA pools and semiconductor sequencing with the Ion Torrent Personal Genome Machine (PGM). We created one pool with DNA from 20 GS patients previously Sanger sequenced for the coding exons of SLC12A3.