A single nucleotide deletion at the C1 inhibitor gene as the cause of hereditary angioedema: insights from a Brazilian family.

BACKGROUND: Hereditary angioedema is an autosomal dominant disease characterized by episodes of subcutaneous and submucosal edema. It is caused by deficiency of the C1 inhibitor protein, leading to elevated levels of bradykinin. More than 200 mutations in C1 inhibitor gene have been reported. The aim of this study was to analyze clinical features of a large family with an index case of hereditary angioedema and to determine the disease-causing mutation in this family. METHODS: Family pedigree was constructed with 275 individuals distributed in five generations. One hundred and sixty-five subjects were interviewed and investigated for mutation at the C1 inhibitor gene. Subjects reporting a history of recurrent episodes of angioedema and/or abdominal pain attacks underwent evaluation for hereditary angioedema. RESULTS: We have identified a novel mutation at the C1 inhibitor gene, c.351delC, which is a single-nucleotide deletion of a cytosine on exon 3, resulting in frameshift with premature stop codon. Sequencing analysis of the hypothetical truncated C1 inhibitor protein allowed us to conclude that, if transcription occurs, this protein has no biological activity. Twenty-eight members of the family fulfilled diagnostic criteria for hereditary angioedema and all of them presented the c.351delC mutation. Variation in clinical presentation and severity of disease was observed among these patients. One hundred and thirty-seven subjects without hereditary angioedema did not have the c.351delC mutation. CONCLUSION: The present study provides definitive evidence to link a novel genetic mutation to the development of hereditary angioedema in patients from a Brazilian family.

First Report of Orange Rust of Sugarcane Caused by Puccinia kuehnii in Mexico, El Salvador, and Panama.

Symptoms of sugarcane orange rust were observed on July 17, 2008 on sugarcane cvs. Mex 57-1285, Mex 61-230, and Co 301 (a clone received in Mexico in 1953) at the Centro de Investigación y Desarrollo de la Caña de Azúcar en Tuxtla Chico, Chiapas, Mexico. In El Salvador, from August 2008 through January 2009, rust symptoms were observed on cv. CP 72-2086 (previously resistant to brown rust caused by Puccinia melanocephala Syd. & P. Syd.) in 117 dispersed sugarcane-production fields in various localities of El Salvador. Likewise, rust symptoms were first observed on sugarcane cv. SP 74-8355 (more than 25% severity and considered resistant to brown rust) at Natá, Coclé Province in Panama from January to February 2008. Dried herbarium leaf samples of sugarcane rust-infected leaves collected in El Salvador and Mexico were sent to the ARS, USDA Systematic Mycology and Microbiology Laboratory in Beltsville MD for identification. Panamanian samples were collected similarly and analyzed at the CALESA Biotechnology Laboratory. Morphological features of uredinial lesions and urediniospores were distinct from those of P. melanocephala and consistent with P. kuehnii E. J. Butler observed previously on specimens from Florida, Guatemala, Costa Rica, and Nicaragua (1-3). Analysis of the ITS1, 5.8S, and ITS2 and 28S large subunit rDNA sequences of the rust on infected cvs. Mex 57-1285, Mex 61-230, and Co 301 (BPI 878930, 879139, and 879140; GenBank Accession Nos. GO283006, GO283004, and GO283005, respectively) from Mexico and cv. CP 72-2086 from three locations in El Salvador (BPI 879135, 879136, and 879137; GenBank Accession Nos. GO283009, GO283007, and GO283008, respectively) all confirmed the identification of P. kuehnii. Similar analysis of the ITS1, 5.8S, and ITS2 rDNA sequence for the rust infecting cv. SP 74-8355 (GenBank Accession No. GO281584) confirmed the identification of P. kuehnii in Panama. To our knowledge, this is the first report of P. kuehnii causing orange rust disease of sugarcane in El Salvador, Mexico, and Panama. These findings also confirm the wider distribution of orange rust in the Western Hemisphere. References: (1) E. Chavarria et al. Plant Dis. 93:425, 2009. (2) J. C. Comstock et al. Plant Dis. 92:175, 2008. (3) W. Ovalle et al. Plant Dis. 92:973, 2008.

Valoración de la flexibilidad de tronco mediante el test del cajón en diferentes modalidades deportivas / Assessment of flexibility by means of the sit and reach test in different sports

Las cualidades físicas influyen en el rendimiento deportivo, aunque su relevanca depende del tipo de deporte. Nuestro objetivo fue la determminación de la flexibilidad en los deportistas de alta competición mediante el test de flexión de tronco hacia delante desde posición sentado. La muetra estaba constituida por 1391 deportistas (385 mujeres y 1006 varones), edad media de 23.3 años, correspondientes a 35 modalidades deportivas. La escala del cajón se fijó de forma que la altura donde se colocaban las plantas de los pies fuera cero. La flexibilidad de la muestra femenina fue de 14.7 cm, (rango: -7 a 31.5 cm) y de la masculina de 10.6 cm, (rango: -13.5 a 32.5 cm). Las modalidades con valores más altos fueron en los varones: Gimnasia Artística y Natación Saltos y en mujeres: Natación Saltos, Gimnasia Artística y gimnasia Rítmica; y los valores más bajos en las modalidades masculinas de waterpolo y maratón (AU)

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Estrogen modulates the action of nitric oxide in the medial preoptic area on luteinizing hormone and prolactin secretion.

Several substances work as neuromediators of the estrogen direct and indirect (through glial cells or interneurons) action on luteinizing hormone- releasing hormone (LH-RH) neurons in medial basal hypothalamus and medial preoptic area (MPOA). Angiotensin II (AII) in the MPOA stimulates the LH and it inhibits PRL secretion in some situations. On the other hand, the effect of excitatory amino acids on LH and PRL surges during proestrus as well LH surge induced by steroids depend on nitric oxide (NO). In the present study we investigated the participation of MPOA endogenous NO on gonadotropin and PRL secretion mediated by estrogen and AII. Plasma LH, FSH and PRL was determinated in estrogen primed and unprimed ovariectomized Wistar rats that received microinjection of AII or saline into the MPOA, associated or not with a previous microinjection of an inhibitor for NOS. Our results show the following: 1 - there was no change in plasma FSH in estrogen- primed or unprimed ovarictomized related with microinjections of AII or NO antagonist in the MPOA; 2- the increase in LH secretion after ovariectomy depends on, at least in part, NO activity in the MPOA; 3- estrogen may have an indirect negative feedback action on LH-RH neurons in the MPOA through NO; 4- the stimulatory action of AII in the MPOA on LH secretion in ovariectomized rats treated with estrogen depends on NO; 5 - NO in the MPOA stimulates or inhibits PRL secretion depending on the absence or presence of estrogen, respectively; 6- the inhibitory action of AII into the MPOA on PRL secretion does not seem to depend on NO.

Iodine-131 treatment of thyroid papillary carcinoma in patients undergoing dialysis for chronic renal failure: a dosimetric method.

Until recently, the therapeutic protocol widely accepted for ablation of the thyroid remnant and for metastases of thyroid papillary carcinoma was the administration of 131I after surgery. However, at present, some data question the usefulness of such treatment in patients considered low risk. The treatment with radioiodine in patients suffering from end-stage renal disease (ESRD) undergoing hemodialysis requires controlled dosages and individualized administration guidelines. The need to include these patients on the waiting list for a renal transplantation, once they have overcome the disease, and the higher prevalence of thyroid carcinoma in ESRD patients makes this an increasingly significant problem. The cases reported in the literature are few and the therapeutic models followed are very difficult. In this paper we propose a therapeutic model that provides the highest thyroid ablative dosage, minimizing radiation exposure to the rest of the organs. The main difference between our protocol and that already described is the performance of daily hemodialysis during the first 5 days of treatment, as well as the administration of a dose of 131I equivalent to that administered to patients who show normal renal function.