Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene.

We report the first nonsense mutation (G7896A) in the mtDNA gene for subunit II of cytochrome c oxidase (COX) in a patient with early-onset multisystem disease and COX deficiency in muscle. The mutation was heteroplasmic in muscle, blood, and fibroblasts from the patient and abundantly present in COX-deficient fibers, but less abundant in COX-positive fibers; it was not found in blood samples from the patient's asymptomatic maternal relatives. Immunoblot analysis showed a reduced concentration of both COX II and COX I polypeptides, suggesting impaired assembly of COX holoenzyme.

Limited level of accuracy provided by available rapid diagnosis tests for malaria enhances the need for PCR-based reference laboratories.

The rise of imported malaria cases and the high fatality rate in Europe make the search for new and easy diagnostic methods necessary. Rapid diagnosis tests (RDTs) are, in part, developed to cover the lack of diagnosis experience. Unfortunately, our data suggest that the accuracy of RDTs is insufficient and could increase the number of incorrect malaria diagnoses.

A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy.

We studied a patient with ptosis, ophthalmoparesis, and exercise intolerance who showed in her muscle biopsy ragged-red fibers and combined defects of the complexes I and IV of the mitochondrial respiratory chain. Molecular analysis revealed a T3273C transition in the mitochondrial DNA tRNA(Leu(UUR)) gene. The mutation was heteroplasmic and very abundant in muscle from the proposita, less abundant in her other tissues studied, and still less abundant in blood from her maternal relatives.

Optimizing dissolved air flotation design and saturation.

Dissolved air flotation (DAF) of iron hydroxide precipitates at working pressures lower than 3 atm, using modified flotation units to improve the collection of fragile coagula, was studied. Conventional DAF flotation was studied as a function of saturation pressure in the absence and presence of surfactants in the saturator. Without surfactants, the minimum saturation pressure required for DAF to occur was found to be 3 atm.

A conserved sorting-associated protein is mutant in chorea-acanthocytosis.

Chorea-acanthocytosis (CHAC, MIM 200150) is an autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology (acanthocytosis). Neurological findings closely resemble those observed in Huntington disease. We identified a gene in the CHAC critical region and found 16 different mutations in individuals with chorea-acanthocytosis.

Genotyping of Plasmodium falciparum infections by PCR: a comparative multicentre study.

Genetic diversity of malaria parasites represents a major issue in understanding several aspects of malaria infection and disease. Genotyping of Plasmodium falciparum infections with polymerase chain reaction (PCR)-based methods has therefore been introduced in epidemiological studies. Polymorphic regions of the msp1, msp2 and glurp genes are the most frequently used markers for genotyping, but methods may differ.

Prospective validation of the association of local tumor stage and grade as a predictive factor for occult lymph node micrometastasis in patients with penile carcinoma and clinically negative inguinal lymph nodes.

Purpose: We prospectively validated the association of local tumor stage and grade as a predictive factor for occult lymph node micrometastasis in patients with penile carcinoma and clinically negative lymph nodes.

Materials And Methods: In a retrospective study of 66 patients we demonstrated the predictive value of the association of local tumor stage and grade for occult micrometastasis, identifying 3 risk groups. A therapy strategy was designed according to these risk groups.

Genotypic characterization of Toxoplasma gondii strains associated with human toxoplasmosis in Spain: direct analysis from clinical samples.

Genetic analysis of the SAG2 locus was performed to determine the prevalence of the different genotypes of Toxoplasma gondii (strain types I, II, and III) associated with human toxoplasmosis in Spain. This determination was made directly from primary clinical samples, obviating the previous process of isolation in mice or cell culture. A total of 34 isolates of T.

Genistein potentiates the radiation effect on prostate carcinoma cells.

We have shown previously that genistein, the major isoflavone in soybean, inhibited the growth of human prostate cancer cells in vitro by affecting the cell cycle and inducing apoptosis. To augment the effect of radiation for prostate carcinoma, we have now tested the combination of genistein with photon and neutron radiation on prostate carcinoma cells in vitro. The effects of photon or neutron radiation alone or genistein alone or both combined were evaluated on DNA synthesis, cell growth, and cell ability to form colonies.

Neutron or photon irradiation for prostate tumors: enhancement of cytokine therapy in a metastatic tumor model.

We have shown that implantation of human prostate carcinoma PC-3 cells in the prostates of nude mice led to the formation of prostate tumors with metastases to para-aortic lymph nodes. We found that day 6 prostate tumors were responsive to systemic injections of interleukin 2 (IL-2) therapy. We have now investigated the combination of primary tumor irradiation and IL-2 for metastatic prostate cancer in this preclinical tumor model.

An open standard platform for interoperability of medical devices.

Patient care in Intensive Care Units and Operating Rooms requires sophisticated instrumentation for monitoring, treatment and control. A major technical problem is the communication between devices, since the connection of medical devices from different manufacturers has similar problems to the communication between people from different countries who do not share a common language. Several proprietary solutions have been developed by initiatives from well-known international companies.

Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease.

We report two siblings with McArdle's disease who are both compound heterozygotes for two non-identical frameshift mutations in the PYGM gene; a previously reported 753 delA in exon 18 and a novel 387 insA/del 8 bp in exon 10. The novel mutation is predicted to result in premature termination of translation 33 amino acids downstream of the site of mutation, potentially encoding a severely truncated protein of 419 amino acids instead of 841 amino acids. The complete lack of myophosphorylase activity observed in muscle derived from one sibling suggests that this mutation has deleterious functional consequences.

The potential utility of the Semi-Nested Multiplex PCR technique for the diagnosis and investigation of congenital malaria.

We report three cases of congenital malaria involving two malarial immune mothers living in Spain. Diagnostic PCR and Genotyping PCR for merozoite surface proteins 1 and 2 were essential to show that mothers and new-borns had different Plasmodium population parasites at the moment of the delivery, and that the infection was acquired earlier in gestation by transplacental transmission. In the first case the Plasmodium species founded in both, mother and child were different.

Therapeutic decision tree for patients with sustained ventricular tachyarrhythmias or aborted cardiac arrest: a critical review of the Antiarrhythmics Versus Implantable Defibrillator trial and the Canadian Implantable Defibrillator Study.

Antiarrhythmic drugs, mainly amiodarone and sotalol, radiofrequency catheter ablation, and the implantable cardioverter defibrillator (ICD) are the 3 therapeutic options in patients with sustained ventricular tachycardia (VT) or ventricular fibrillation (VF). Idiopathic VT, incessant VT, frequently recurring, hemodynamically stable VT, and VT based on bundle branch reentry, are candidates for radiofrequency catheter ablation. Patients with high-risk ventricular tachyarrhythmias should receive ICDs as initial therapy.

Myocardial carnitine and carnitine palmitoyltransferase deficiencies in patients with severe heart failure.

We studied myocardial tissue from 25 cardiac transplant recipients, who had end-stage congestive heart failure (CHF), and from 21 control donor hearts. Concentrations of total carnitine (TC), free carnitine (FC), short-chain acylcarnitines, long-chain acylcarnitines (LCAC) as well as carnitine palmitoyltransferase (CPT) activities were measured in myocardial tissue homogenates and referred to the concentration of non-collagen protein. Compared to controls, the concentrations of TC and FC as well as total CPT activities were significantly lower in patients.

The use of PCR in the diagnosis of hyper-reactive malarial splenomegaly (HMS).

Between August 1997 and September 1998, 14 cases of hyper-reactive malarial splenomegaly (HMS) were diagnosed in the Instituto de Salud Carlos III in Madrid, Spain. These cases, from Equatorial Guinea and Cameroon, were identified using the diagnostic criteria established by Y. M.

Three-pion interferometry results from central Pb+Pb collisions at 158A GeV/c.

Three-particle correlations have been measured for identified pi(-) from central 158A GeV Pb+Pb collisions by the WA98 experiment at CERN. A substantial contribution of the genuine three-body correlation has been found as expected for a mainly chaotic and symmetric source.

A mitochondrial tRNA(Lys) gene mutation (T8316C) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes.

We studied a patient with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes who had morphologically and biochemically abnormal muscle mitochondria. Molecular analysis revealed a T8316C transition in the mitochondrial DNA tRNA(Lys) gene. The mutation was homoplasmic in muscle from the proposita, heteroplasmic in her blood, and still less abundant in blood from her asymptomatic maternal relatives.

The current state of multiple sclerosis genetic research.

Introduction: Multiple sclerosis (MS) is the most common genetic disease of the nervous system with onset usually in young adulthood. Four genome-wide searches in different Caucasian populations for MS susceptibility loci have been performed, but none reported any linkage at a level that would be regarded as significant according to current criteria. Significant linkage of MS to allelic variants of the major histocompatibility (MHC) locus on chromosome 6p21 has been established although its overall contribution to MS susceptibility has proven difficult to quantify.

Molecular analysis of Spanish patients with AMP deaminase deficiency.

We found six patients with AMPD deficiency in muscle who were homozygous for the most common mutation, Q12X in the AMPD gene (AMPD1), associated with this disease. Three patients had AMPD deficiency alone, showing a mild clinical phenotype. Two patients showed a defect of PPL in muscle, and were homozygous for the most common mutation associated with McArdle's disease, R49X in the muscle PPL gene (PYGM).