Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family.

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations (AVMs) in multiple organs. Most patients have deletions or missense mutations in the ENG or ACVRL1 gene respectively, significantly affecting endothelium homeostasis. We analyzed the ENG gene in five members of a Peruvian family affected by HHT. One novel mutation was found in exon four of the ENG gene c.408delA, at aminoacid residue 136. This mutation changes the subsequent reading frame producing an early stop at residue 162, preserving only one fourth of the normal protein of 658 aa. This mutation was found in the four affected members of family.

Fabrication, Optimization and Characterization of Natural Dye Sensitized Solar Cell.

The dyes extracted from pomegranate and berry fruits were successfully used in the fabrication of natural dye sensitized solar cells (NDSSC). The morphology, porosity, surface roughness, thickness, absorption and emission characteristics of the pomegranate dye sensitized photo-anode were studied using various analytical techniques including FESEM, EDS, TEM, AFM, FTIR, Raman, Fluorescence and Absorption Spectroscopy. Pomegranate dye extract has been shown to contain anthocyanin which is an excellent light harvesting pigment needed for the generation of charge carriers for the production of electricity. The solar cell's photovoltic performance in terms of efficiency, voltage, and current was tested with a standard illumination of air-mass 1.5 global (AM 1.5 G) having an irradiance of 100 mW/cm2. After optimization of the photo-anode and counter electrode, a photoelectric conversion efficiency (η) of 2%, an open-circuit voltage (Voc) of 0.39 mV, and a short-circuit current density (Isc) of 12.2 mA/cm2 were obtained. Impedance determination showed a relatively low charge-transfer resistance (17.44 Ω) and a long lifetime, signifying a reduction in recombination losses. The relatively enhanced efficiency is attributable in part to the use of a highly concentrated pomegranate dye, graphite counter electrode and TiCl4 treatment of the photo-anode.

Outcomes among inmates treated for coccidioidomycosis at a correctional institution during a community outbreak, Kern County, California, 2004.

BACKGROUND: Treatment of pulmonary coccidioidomycosis is typically limited to patients with severe disease or those with increased risk of dissemination. In response to an increase of coccidioidomycosis at a correctional institution in an endemic area, physicians initiated an enhanced diagnosis and treatment program. METHODS: Case patients were inmates with laboratory-confirmed coccidioidomycosis during January 1, 2003, through October 31, 2004. We abstracted medical record data, including demographics, IgG complement fixation (CF) titers, treatment, and clinical outcome for initial and follow-up visits. Case patients receiving antifungal treatment were categorized into early (4 weeks after symptom onset). We evaluated clinical outcome, median IgG CF titer, and time to clinical improvement. RESULTS: Eighty-seven persons were diagnosed with coccidioidomycosis; 79 (91%) records were available. Median age was 36 years (range, 21-71 years), 34 (43%) were black, and all were male. Median time from symptom onset to diagnosis was 3 weeks (range, <1-36 weeks). Most (95%) received antifungal therapy; 32 were in the early treatment and 43 were in the late treatment group. Good clinical outcome was equally likely. In both groups, median peak IgG CF titers were 1:64. Titers in patients with early treatment did not decrease more rapidly. Median time to improvement was similar in early and late treatment groups (7 and 6 months, respectively; P = .6). CONCLUSIONS: Persons incarcerated in endemic areas constitute a susceptible population that should be considered at risk for coccidioidomycosis. Further studies are needed to identify populations that may benefit from early antifungal treatment for pulmonary coccidioidomycosis.

Dolor abdominal agudo debido a infarto esplénico en un paciente con enfermedad heterocigota de células falciformes expuestos a la altura / Acute abdominal pain due to splenic infarct in a patient with disease heterozygote exposed silck cells to the height

La hemoglobinopatía S, depranocitosis o enfermedad de células falciformes constituye la hemoglobinopatía más frecuente en el mundo. En su forma heterocigota (Sickle Cell Trait) afecta el 8 por ciento de la población negra de los EUA y al 25 por ciento de la población negra africana, y en menor frecuencia en la zona del mediterráneo, India, Medio Oriente y América Latina. La alteración básica es la sustitución del ácido glutámico de la posición 6 de la cadena beta de Globina por Valina, la cual polimeriza a baja tensión de oxigeno; distorsionando la estructura del hematíe, aumentando la viscosidad sanguínea, bloqueando la circulación arterial capilar de diferentes áreas del organismo produciendo así microinfartos. Aunque el Infarto esplénico es raro, es reconocido como una dramática complicación de la enfermedad heterocigota de células falciformes (Sickle Cell Trait). Presentamos el caso de un paciente varón de 21 años de edad, mestizo, que cursa con un cuadro agudo de dolor abdominal posterior al arribo a la ciudad minera de Casapalca (ubicado en la Sierra del Perú; a 4200 msnm) por causas laborales y es derivado a nuestro Hospital en Lima para estudio. Presentamos el caso por ser una inusual causa de dolor abdominal agudo y por ser esta entidad poco frecuente en nuestro medio y con escasas publicaciones al respecto.

Hemoglobinopathy S, Depranocytosis or Sickle Cell Disease is the most commonhemoglobinopathy in the world. In its heterozygous form (Sickle Cell Trait), it affects 8 per cent of the black population in the U.S. and 25 per cent of the black population in Africa, and is found less frequently in the Mediterranean area, India, Middle East and Latin America. The basic alteration is a substitution of glutamic acid by valin in the sixth position of the beta globin chain, which causes polymerization at low oxygen tension thereby distorting the structure of erythrocytes and increasing blood viscosity, which,in turn, generates obstructions of the capillary arterial blood flow to different areas of the body thus causing microinfarctions. Although Splenic Infarction is rare, it is recognized as a serious complication of Heterozygous Sickle Cell Disease (Sickle Cell Trait).We present the case of a 21 year-old mestizo male patient who came in with an acute case of abdominal pain after arriving to work in the Casapalca mining city (located in the Peruvian Andes at 4200 m.a.s.l.) and was referred to our Hospital in Lima for exams. We present the case because it is an unusual cause of acute abdominal pain, and because this condition is rare in Peru and there are few publications about it.

[Acute abdominal pain due to splenic infarction in a patient with heterozygous sickle cell disease exposed to high altitude]. / Dolor abdominal agudo debido a infarto esplénico en un paciente con enfermedad heterocigota de células falciformes expuesto a la altura.

Hemoglobinopathy S, Depranocytosis or Sickle Cell Disease is the most common hemoglobinopathy in the world. In its heterozygous form (Sickle Cell Trait), it affects 8% of the black population in the U.S. and 25% of the black population in Africa, and is found less frequently in the Mediterranean area, India, Middle East and Latin America. The basic alteration is a substitution of glutamic acid by valin in the sixth position of the beta globin chain, which causes polymerization at low oxygen tension thereby distorting the structure of erythrocytes and increasing blood viscosity, which, in turn, generates obstructions of the capillary arterial blood flow to different areas of the body thus causing microinfarctions. Although Splenic Infarction is rare, it is recognized as a serious complication of Heterozygous Sickle Cell Disease (Sickle Cell Trait). We present the case of a 21 year-old mestizo male patient who came in with an acute case of abdominal pain after arriving to work in the Casapalca mining city (located in the Peruvian Andes at 4200 m.a.s.l.) and was referred to our Hospital in Lima for exams. We present the case because it is an unusual cause of acute abdominal pain, and because this condition is rare in Peru and there are few publications about it.

Successive intramolecular transiminations in an iron (II) complex with chiral tridentate ligands.

Two molecules of S-2-pyridylmethylidene-1-(2-pyridyl)ethylamine coordinated to an iron(II) undergo successive transiminations yielding bis[1-(2-pyridyl)ethylidene-2-pyridylmethylamine]iron(II) in acetonitrile.