A novel mutation in the mitochondrial DNA tRNA Leu (UUR) gene associated with late-onset ocular myopathy.

We identified a novel G3283A transition in the mitochondrial DNA tRNA(Leu (UUR)) gene in a patient with ptosis, ophthalmoparesis and hyporeflexia. Muscle biopsy showed cytochrome oxidase positive ragged-red fibers, and defects of complexes I, III and IV of the mitochondrial respiratory chain. The mutation was heteroplasmic in muscle of the proband, being absent in her blood. Ragged-red fibers harbored greater levels of mutant genomes than normal fibers. The G3283A mutation affects a strictly conserved base pair in the TPsiC stem of the gene and was not found in controls, thus satisfying the accepted criteria for pathogenicity.

Experiencia de 30 meses en screening de diabetes gestacional en 3293 pacientes / Thirty-month experience in the screening of gestational diabetes in 3293 patients

El presente estudio, describe la experiencia realizada en screening de diabetes gestacional con las nuevas pautas de la A.L.A.D a 3293 pacientes que fueron asistidas en las Policlínicas del Departamento de Ginecología y Obstetricia del Hospital Militar en el período comprendido entre el 1/1/'98 y el 30/6/'00. Se diagnosticaron 167 pacientes con diabetes gestacional, 164 fueron controladas en la Policlínica de Alto Riesgo Obstétrico; 160 habían finalizado su embarazo, naciendo 164 niños. El factor de riesgo más frecuentemente encontrado fue la obesidad; destacándose una relación directa entre el incremento del riesgo relativo en función del peso, así como también de la edad materna. No se encontraron diferencias significativas en cuanto a vías de finalización del embarazo, la edad gestacional de finalización y el puntaje del Apgar del recién nacido con relación al resto de la población. Se observó una frecuencia doble en pequeños y grandes para la edad gestacional. El 76 por ciento de los recién nacidos fueron sanos. El 48 por ciento de las pacientes se reclasificaron

Sodium Requirement for Photosynthesis and Its Relationship with Dinitrogen Fixation and the External CO(2) Concentration in Cyanobacteria.

Cells of Anabaena PCC 7119 and of a mutant strain of Nostoc muscorum unable to fix dinitrogen, grown at pH 8 and under low CO(2) tension (air), showed a reduced capacity for photosynthesis when cultured in the absence of sodium, this inhibition being followed by symptoms of photooxidation, such as chlorosis, oxygen consumption in the light, and decrease of superoxide dismutase activity. The impairment of photosynthesis preceded that of nitrogenase activity, indicating that the requirement for sodium in photosynthesis was independent of its effects on nitrogen metabolism. However, when cyanobacteria were grown at pH 6.3 or under high CO(2) tensions, sodium was not required for photosynthesis and no symptoms of photooxidation were observed.

Essentiality of Boron for Dinitrogen Fixation in Anabaena sp. PCC 7119.

The relationship between the requirement for boron and the form of N supplied in nutrient media to cyanobacterium Anabaena sp. PCC 7119 was investigated. When cells were grown in a medium which contained nitrate or ammonium-N, boron deficiency in the nutrient media did not inhibit growth or change cell composition. However, when cells were dependent on N(2) fixation, the lack of boron inhibited growth (i.e. growth ceased after 96 hours under these conditions). Additionally, boron-deficient cells showed a significant decrease in their content of phycobiliproteins and chlorophyll and accumulated carbohydrates within 24 hours of removing boron from the nutrient media. Inhibition of photosynthetic O(2) evolution accompanied the decrease in photosynthetic pigments. Boron deficiency symptoms were relieved when either boron or combined N was added to boron-deficient cultures. The degree of recovery depended upon the age of the cultures. Assays of nitrogenase activity showed that, after 2 hours of growth, nitrogenase activity of boron-deficient cells was inhibited by 40%. After 24 hours a total inactivation of nitrogenase activity was observed in boron-deficient cells. These results strongly suggest an involvement of boron in N(2) fixation in cyanobacteria.

Protection by CO(2) against Sodium Deficiency in a Mutant of Nostoc muscorum.

The effects of Na-deficient culture were studied on a mutant of Nostoc muscorum unable to fix N(2). Na deficiency made the cells sensitive to photooxidation, thus at a light intensity of lO W m(-2) and a low concentration of CO(2) (0.03 %), Na deficiency caused chlorosis and cell lysis. At a lower light intensity, cell damages did not take place. Higher levels of CO(2) prevented photooxidation, so that only a partial inhibition of photosynthetic oxygen evolution was found under these conditions.

Estramustine phosphate with multiple cytotoxic agents in treatment of advanced prostatic cancer.

Twenty-five patients with histologically proved adenocarcinoma of the prostate were divided into two groups and submitted to combination therapy with estramustine (Estracyt), cyclophosphamide (Cytoxan), 5-fluorouracil, and Cisplatin. Group A consisted of 10 patients newly diagnosed Stage D disease with no prior treatment. Group B consisted of 15 Stage D patients who had become hormonally unresponsive. Group A patients demonstrated an initial 100 per cent response rate including 70 per cent partial objective responses and 30 per cent stabilizations. Group B patients had a 46 per cent response with 39 per cent complete and partial responses and 6 per cent as stabilized. Toxicity was tolerable judged by the NPCP criteria. Both groups of patients are still under study for up to two years to determine if this therapy is superior to other traditional therapies.