Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients.

The axonal type of Charcot‑Marie‑Tooth (CMT) disorders is genetically heterogeneous, therefore the causal mutation is unlikely to be observed, even in clinically well characterized patients. Mitofusin‑2 (MFN2) gene mutations are the most frequent cause of axonal CMT disorders in a number of populations. There are two phenotypes; early onset, which is severe and late onset, which is a milder phenotype.

L-arginine in combination with sildenafil potentiates the attenuation of hypoxic pulmonary hypertension in rats.

Chronic hypoxia induces an increased production of nitric oxide (NO) in pulmonary prealveolar arterioles. Bioavailability of the NO in the pulmonary vessels correlates with concentration of L-arginine as well as activity of phosphodiesterase-5 enzyme (PDE-5). We tested a hypothesis whether a combination of L-arginine and PDE-5 inhibitor sildenafil has an additive effect in reduction of the hypoxic pulmonary hypertension (HPH) in rats.

Long-term control of ambulatory hypertension in children: improving with time but still not achieving new blood pressure goals.

Background: Short-term therapy can decrease blood pressure (BP) to less than the 95th percentile in only about 50% of children. The aim of our study was to investigate the long-term control of hypertension (HT) in children using ambulatory BP monitoring (ABPM).

Methods: We analyzed data from all children who started ramipril monotherapy in our center.

Changes in MYCN expression in human neuroblastoma cell lines following cisplatin treatment may not be related to MYCN copy numbers.

Neuroblastoma is a tumor accounting for approximately 10% of all childhood malignancies and 50% of all childhood cancer-related deaths. MYCN gene copy number variation represents the most important prognostic factor in neuroblastoma. Prognostic significance of MYCN gene expression is more complicated and may depend on other factors such as MYCN gene copy number status.

Plasma adrenomedullin and subclinical cardiorenal syndrome in patients with type 2 diabetes mellitus.

Objective: To evaluate whether plasma adrenomedullin is involved in the previously reported significant inverse correlation between left ventricular (LV) end-diastolic pressure (peak velocity of early transmitral flow/peak velocity of early diastolic mitral annular motion ratio [E/E' ]) and estimated glomerular filtration rate (eGFR) in patients with type 2 diabetes mellitus, mild-to-moderate renal function impairment and LV relaxation impairment (E'≤7.1 cm/s).

Methods: Plasma adrenomedullin concentration, E/E' and eGFR were assessed in 82 patients with type 2 diabetes.

Virtual interactomics of proteins from biochemical standpoint.

Virtual interactomics represents a rapidly developing scientific area on the boundary line of bioinformatics and interactomics. Protein-related virtual interactomics then comprises instrumental tools for prediction, simulation, and networking of the majority of interactions important for structural and individual reproduction, differentiation, recognition, signaling, regulation, and metabolic pathways of cells and organisms. Here, we describe the main areas of virtual protein interactomics, that is, structurally based comparative analysis and prediction of functionally important interacting sites, mimotope-assisted and combined epitope prediction, molecular (protein) docking studies, and investigation of protein interaction networks.

Simultaneous intraductal papillary neoplasms of the bile duct and pancreas treated with chemoradiotherapy.

Some authors have suggested that intraductal papillary mucinous neoplasms of the bile duct (IPMN-B) could be the the biliary counterpart of IPMN of the pancreas (IPMN-P) since they share several clinical-pathological features. These include prominent intraductal papillary proliferation pattern, a gastrointestinal phenotype, frequent mucin hyper-secretion and progression to mucinous carcinoma. To date there are just four reported cases of patients with synchronous IPMN-B and IPMN-P all of which were treated surgically.

Reactive oxygen species production in the early and later stage of chronic ventilatory hypoxia.

Pulmonary hypertension resulting from chronic hypoxia is at least partly caused by the increased production of reactive oxygen species (ROS). The goal of the presented study was to investigate the dynamics and the site of production of ROS during chronic hypoxia. In our study Wistar rats were kept for 1, 4 and 21 days in an isobaric hypoxic chamber (F(iO2)=0.

The association between left ventricular diastolic function and a mild-to-moderate decrease in glomerular filtration rate in patients with type 2 diabetes mellitus.

This prospective study evaluated the relationship between echocardiography parameters of left ventricular (LV) diastolic function and mild-to-moderate renal function impairment in 82 patients with type 2 diabetes mellitus. The mean age of the patients was 61.1 years.

Control of hypertension in treated children and its association with target organ damage.

Background: The aim of our study was to investigate the control of hypertension (HT) in treated children using ambulatory blood pressure (BP) monitoring (ABPM).

Methods: We retrospectively reviewed all ABPM studies in our center. Controlled HT was defined as systolic and diastolic BP index (patients' BP divided by the 95th percentile) at daytime and nighttime <1.

Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy.

We report four novel point mutations in the PMP22 gene with two different phenotypes: mutation p.Ser79Thr arose de novo in a patient with the Dejerine-Sottas neuropathy (DSN) phenotype; and mutations c.78+5 G>A, c.

Sublingual isosorbide dinitrate for the detection of obstruction in hypertrophic cardiomyopathy.

Aims: Hypertrophic cardiomyopathy (HCM) is predominantly associated with left ventricular outflow tract (LVOT) obstruction. The assessment of the obstruction with a provoking test should be a routine part of HCM evaluation. The aim of the study was to determine the utility of a sublingual spray application of isosorbide dinitrate (ISDN) for detection of an obstruction.

Urinary transforming growth factor-β1 in children with obstructive uropathy.

Aim: Obstructive uropathies (OU) in childhood constitute one of the major causes of chronic renal insufficiency. Transforming growth factor-β1 (TGF-β1) is considered to be the major fibrogenic growth factor. The aim of the present study was to investigate urinary TGF-β1 levels in children with obstructive and non-obstructive uropathies (NOU).

Erratum to: A novel frameshift mutation in exon 12 of the adenomatous polyposis coli gene in an Italian family with familial adenomatous polyposis and desmoid tumour.

[This corrects the article on p. 235 in vol. 4, PMID: 20589194.

Low-grade focal cortical dysplasia is associated with prenatal and perinatal brain injury.

Purpose: Prenatal and perinatal adverse events are reported to have a pathogenetic role in focal cortical dysplasia (FCD). However, no data are available regarding the prevalence and significance of this association. A cohort of children with significant prenatal and perinatal brain injury and histologically proven mild malformations of cortical development (mMCD) or FCD was analyzed.

Endovascular treatment of common carotid artery dissection via the superficial temporal artery.

Purpose: To describe the endovascular treatment of an iatrogenic common carotid artery (CCA) dissection using the superficial temporal artery (STA) as the principal access.

Technique: An 83-year-old man with a post-carotid endarterectomy left CCA dissection was admitted for a transient ischemic attack involving the left cerebral hemisphere that occurred despite proper anticoagulation. After excluding redo surgery and transfemoral stenting (owing to a partially compromised aortobifemoral bypass graft), stenting of the left CCA dissection was planned using a right transbrachial approach, with the left STA as an additional access.

Characteristics and clinical changes during hospitalization in bipolar and psychotic disorder patients with versus without substance-use disorders.

Background: Co-morbid substance-use disorders (SUDs) are prevalent among patients with severe psychiatric disorders, but the characteristics of such patients remain incompletely defined, and their current treatments and responses, poorly documented.

Methods: We evaluated the records of 481 consecutive inpatients diagnosed with DSM-IV bipolar or schizoaffective disorders, or schizophrenia, admitted to McLean Hospital in 2004 or 2009. Demographic and clinical characteristics, and treatments, were extracted from hospital and pharmacy records for bivariate and multivariate analyses.

Isolation of rat lung mast cells for purposes of one-week cultivation using novel Percoll variant Percoll PLUS.

Prolonged cultivation of separated rat lung mast cells (LMC) in vitro is necessary to better investigate a possible role of LMC in different stages of tissue remodeling induced by hypoxia. Rat lung mast cells (LMC) were separated using a protocol including an improved proteolytic extraction and two subsequent density gradient separations on Ficoll-Paque PLUS and a new generation of Percoll, i.e.

Aortic arch catheterization during transfemoral carotid artery stenting: an underestimated source of cerebral emboli.

Cerebral embolization is still a major concern in patients undergoing transfemoral carotid artery stenting. Intraoperative transcranial Doppler (TCD) monitoring and diffusion-weighted magnetic resonance imaging (DW-MRI), two techniques currently used to study this phenomenon, have provided data suggesting the importance of aortic arch catheterization in determining the overall embolic load observed during this procedure. In order to reduce this cerebral embolization, some Authors have proposed the performance of carotid artery stenting through a cervical access, either surgical or percutaneous.

Production of proteolytic enzymes in mast cells, fibroblasts, vascular smooth muscle and endothelial cells cultivated under normoxic or hypoxic conditions.

Matrix metalloproteinases (MMPs) is a family of proteolytic enzymes involved in remodeling of extracellular matrix. Although proteolytic enzymes are produced by many cell types, mast cells seem to be more important than other types in remodeling of pulmonary arteries during hypoxia. Therefore, we tested in vitro production of MMPs and serine proteases in four cell types (mast cells, fibroblasts, vascular smooth muscle cells and endothelial cells) cultivated for 48 h under normoxic or hypoxic (3% O2) conditions.

Evaluation of the right ventricular function in hypertrophic obstructive cardiomyopathy: a strain and tissue Doppler study.

We investigated the utility of strain, strain rate, and tissue Doppler imaging (TDI) for the evaluation of the right ventricle (RV) impairment in patients with a hypertrophic obstructive cardiomyopathy (HOCM) who underwent a successful alcohol septal ablation (ASA) and were without RV hypertrophy. A group of 19 patients suffering from HOCM with 22 controls was compared. The parameters of TDI were evaluated in mitral and tricuspid annulus.

Prevention of mast cell degranulation by disodium cromoglycate delayed the regression of hypoxic pulmonary hypertension in rats.

Background: Pulmonary vascular remodeling induced by chronic hypoxia regresses after return to normoxia. This regression is associated with an increased amount of collagenase in pulmonary mast cells and increased collagenolytic and elastolytic activity in the lung tissue.

Objective: The role of lung mast cells during recovery from chronic hypoxia was tested by the inhibition of their degranulation by disodium cromoglycate (DSCG).

Cervical access for filter-protected carotid artery stenting: a useful tool to reduce cerebral embolisation.

Background: Filter-protected transcervical carotid artery stenting (CAS) has been suggested to reduce the intraoperative cerebral embolisation observed during transfemoral CAS. We therefore evaluated clinical outcome and incidence of ischaemic lesions at diffusion-weighted magnetic resonance imaging (DW-MRI) after transcervical and transfemoral CAS.

Methods: From March 2007 to May 2009, we performed filter-protected CAS in 135 patients with symptomatic (30%) or asymptomatic (70%) carotid stenosis above 70% and below 95%.