Echocardiographic assessment of the pulmonary venous flow. An indicator of increased pulmonary flow in congenital cardiac malformations.

Objective: To identify the left inferior pulmonary vein as an indirect marker of increased pulmonary flow in congenital heart diseases.

Methods: We carried out a prospective consecutive study on 40 patients divided into 2 groups as follows: G1--20 patients diagnosed with congenital heart disease and increased pulmonary flow; G2 (control group)--20 patients who were either healthy or had congenital heart disease with decreased or normal pulmonary flow. We obtained the velocity-time integral of the left inferior pulmonary vein flow, excluding the "reverse A" wave, with pulsed Doppler echocardiography.

Left ventricular diastolic function in essential hypertensive patients: influence of age and left ventricular geometry.

Purpose: To evaluate diastolic dysfunction (DD) in essential hypertension and the influence of age and cardiac geometry on this parameter.

Methods: Four hundred sixty essential hypertensive patients (HT) underwent Doppler echocardiography to obtain E/A wave ratio (E/A), atrial deceleration time (ADT), and isovolumetric relaxation time (IRT). All patients were grouped according to cardiac geometric patterns (NG - normal geometry; CR - concentric remodeling; CH- concentric hypertrophy; EH - eccentric hypertrophy) and to age (<40; 40 - 60; >60 years).

Cloning and characterization of a 35-kDa mouse mitochondrial outer membrane protein MOM35 with high homology to Tom40.

We have cloned a 35-kDa protein from a mouse cDNA library with a 25% overall amino acid identity to yTom40 and 27% identity to nTom40. This homolog toTom40 was named MOM35. It contains two possible start codons 36 amino acids apart from each other.

Genotypes associated with virulence in environmental isolates of Vibrio cholerae.

Vibrio cholerae is an autochthonous inhabitant of riverine and estuarine environments and also is a facultative pathogen for humans. Genotyping can be useful in assessing the risk of contracting cholera, intestinal, or extraintestinal infections via drinking water and/or seafood. In this study, environmental isolates of V.

Sleep pattern and daytime differences in the electromyographic activity and peripheral temperature.

For a long time, it has been said that most individuals sleep an average of 8 h. However, there are subjects that usually sleep less than 6 h (the ones placed under the label of short sleep pattern, SSP) and subjects that sleep more than 8 h (those classified by the long sleep pattern, LSP). Starting from this division, several studies have been carried out in order to establish possible differences in terms of psychological and physiological variables.

Anion recognition by thiostrepton.

A bicyclic polypeptide antibiotic thiostrepton forms both 1:1 and 1:2 complexes with anions (as tetrabutylammonium salts) in organic solvents with K2 >K1 for F- and K2<>Cl-, Br-, HSO4-, H2PO4-, but in CHCl3 they follow a different order: Cl- approximatelyHSO4- >F- approximately AcO- > Br > H2PO4-. The binding mode of anions to thiostrepton is discussed on the basis of solvent effects on the complexation selectivity.

Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I.

Two novel (G390V and X439W) and five already known mutations were identified in a total of 14 GA I alleles from Italy and Portugal. The substitution X439W is a rare type of mutation, which breaks the stop codon of the GCDH gene. As described in other populations, R402W was the most common mutation.

Simple cystectomy in patients requiring urinary diversion.

Purpose: Urinary diversion is an alternative treatment for conditions such as radiation and interstitial cystitis, neurogenic bladder and severe incontinence. The subsequent complication rate may reach 60% due to the retained nonfunctional bladder. The subsequent cystectomy rate may be as high as 20% because of pyocystis, hematuria, pelvic pain and rarely bladder cancer.

Multiple arterial anomalies in the newborn infant. Echocardiographic and angiographic diagnosis.

Multiple arterial anomalies characterized by tortuosity and rolling of the pulmonary arteries and aorta were diagnosed on echocardiography in an asymptomatic newborn infant with a phenotype suggesting Ehlers-Danlos syndrome. These changes were later confirmed on angiography, which also showed peripheral vascular abnormalities. The electrocardiogram showed a probable hemiblock of the left anterosuperior branch, and the chest x-ray showed an excavated pulmonary trunk with normal pulmonary flow.

Association of pulmonary atresia with intact ventricular septum and aortic valve stenosis. Prenatal diagnosis.

A rare association of pulmonary atresia with an intact septum was diagnosed through echocardiography in a fetus 32 weeks of gestational age. The diagnosis was later confirmed by echocardiography of the newborn infant and further on autopsy. The aortic valve was bicuspid with a pressure gradient of 81 mmHg, and the right ventricle was hypoplastic, as were the pulmonary trunk and arteries, and the blood flow was totally dependent on the ductus arteriosus.

Right coronary artery fistula with congestive heart failure in the neonate. Doppler echocardiographic diagnosis and closure with detachable balloon.

We report here a case of coronary artery fistula in a neonate with clinical signs of heart failure. The electrocardiogram showed signs of left ventricular hypertrophy and diffuse alterations in ventricular repolarization. Chest X-ray showed an enlargement of the cardiac silhouette with an increase in pulmonary flow.

Threshold and retreatment parameters of NPe6 photodynamic therapy in retinal and choroidal vessels.

Background And Objective: To determine the threshold fluence for producing choroidal and retinal vascular occlusion with mono-L-aspartyl chlorin e6 (NPe6) photodynamic therapy (PDT) during primary treatment and the effect of retreatment.

Methods: Primary treatment: Rats, rabbits, and monkeys underwent NPe6 PDT to determine the threshold fluences for choroidal and retinal vessel occlusion. The threshold was determined by analyzing fluorescein angiograms for areas of nonperfusion.

Bladder-sparing treatment of invasive bladder cancer.

Background: Radical cystectomy with pelvic lymph node dissection is the standard treatment for patients with invasive bladder cancer. However, many alternative techniques to spare the bladder have been investigated.

Methods: We review the experience reported in the literature on bladder-sparing techniques, including transurethral resection, chemotherapy, and radiation for muscle-invasive disease.

The V388M mutation results in a kinetic variant form of phenylalanine hydroxylase.

The molecular mechanism underlying the metabolic defect in phenylketonuria (PKU) patients carrying the V388M missense mutation of the phenylalanine hydroxylase (PAH) gene has been characterized. An in vitro prokaryotic expression system has been used to produce both the wild-type and the mutant form of the human PAH (hPAH) protein. The recombinant enzymes, obtained as fusion proteins, were purified by immobilized metal affinity chromatography and recovered in high yields.

The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients.

To understand the basis for the clinical heterogeneity of phenylalanine hydroxylase deficiency among Portuguese hyperphenylalaninemic patients, genotype-phenotype correlations were established. A group of 61 patients was completely genotyped, leading to the identification of 20 different mutant alleles in 36 different genotypic combinations, including a mutant allele not reported previously. The severity of those mutations found within this hyperphenylalaninemic population, which have not been previously expressed in vitro, were assessed.

[Right ventricle-dependent coronary circulation in pulmonary atresia with intact ventricular septum. Absence of origin of the coronary arteries from the aorta].

This report describes the clinical, echocardiographic and angiographic aspects of a five-day old boy with pulmonary atresia and intact ventricular septum. Both the echocardiogram and the aortography did not show any coronary arteries arising from the aorta. Two-dimensional echocardiography was able to identify the coronary arteries originating from the right ventricle and so did the right ventricular angiogram.

Involvement of NF-AT in type I human T-cell leukemia virus Tax-mediated Fas ligand promoter transactivation.

Human T-cell leukemia virus type I (HTLV-I)-infected T-cells constitutively express surface Fas ligand (FasL), which may serve as a mechanism of viral pathogenesis. HTLV-I induces transcription of FasL gene through the viral transactivator Tax, although the underlying molecular mechanism remains unclear. In the present study, we have analyzed both the cis-activating element and transactivating factors involved in Tax activation of the FasL promoter.

[Anomalous origin of the right pulmonary artery from the ascending aorta (Hemitruncus)].

The origin of the right pulmonary artery from the ascending aorta is a rare cogenital anomaly, with very few reports in the literature. We describe two cases of this rare malformation, one of them, associated with interruption of the aortic arch (type B). In both cases, the diagnosis was made by two-dimensional echocardiography, with angiographic confirmation in one of them.

[Patent ductus arteriosus and pulmonary artery endarteritis].

We describe a seven year old girl with echocardiographic diagnosis of pulmonary artery endarteritis as a complication of a patent ductus arteriosus, confirmed at surgery. This case illustrates the necessity of complete surgical resection of the infectious source as a way to avoid other complications such as pulmonary embolism.

Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.

In order to elucidate the molecular basis of phenylketonuria (PKU) in Portugal, a detailed study of the Portuguese mutant phenylalanine hydroxylase (PAH) genes was performed. A total of 222 mutant alleles from 111 PKU families were analysed for 26 mutations and restriction fragment length polymorphismlvariable number tandem repeat (RFLP/VNTR) haplotypes. It was possible to characterise 55% of the mutant alleles, in which 14 different mutations (R261Q, V388M, IVS10nt-11, I65T, P281L, R252W, R158Q, L348V, Y414C, L311P, Y198fsdel22bp, R408W, R270K, and R261X) and three polymorphisms (Q232Q, V245V, and L385L) were identified.

Characterisation of diarrhoeagenic Escherichia coli clones by ribotyping and ERIC-PCR.

The ability of ribotyping and enterobacterial repetitive intergenic concensus-polymerase chain reaction (ERIC-PCR) to discriminate diarrhoeagenic Escherichia coli clones of 122 strains belonging to 26 distinct serotypes was evaluated. The 26 serotypes corresponded to 24 ribotypes and 25 ERIC-types. Correlation between multilocus enzyme electrophoresis, ERIC-PCR and ribotyping was c.

Assessment using ELISA of the herd immunity levels induced in cattle by foot-and-mouth disease oil vaccines.

The development of a liquid-phase blocking sandwich ELISA (LPBE) to measure antibodies (Ab) produced in cattle with the O, A and C foot-and-mouth disease virus (FMDV) types of commercial vaccines used in Argentina is described. The test was specific: 99% of naïve cattle sera (n = 130) gave titres below log10 = 1.2, and none had a titre above log10 = 1.