A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism

Context: Loss-of-function mutations of the kisspeptin-1 receptor gene, KISS1R, have been identified in patients with normosmic isolated hypogonadotropic hypogonadism (nIHH). Objective: To investigate KISS1R defects in patients with absent or delayed puberty. Patients: We investigated KISS1R gene defects in a cohort of 99 Brazilian patients with nIHH or constitutional delay of puberty (CDP). Methods: The entire coding region of KISS1R was amplified by PCR followed by automatic sequencing. In addition, screening for KISS1R exonic deletions was performed by multiplex ligation-dependent probe amplification. Results: One novel homozygous KISS1R mutation was identified in two siblings with nIHH. This variant was an insertion/deletion (indel) mutation characterized by the deletion of three nucleotides (GCA) at position -2 to -4, and by the insertion of seven nucleotides (ACCGGCT) at the same position, within the 30 splice acceptor site of intron 2 of KISS1R. The brothers who carried this KISS1R mutation had no clinical evidence of pubertal development at the ages of 14 and 20 years. Computational analysis of this indel mutation predicted the generation of an abnormal protein. In addition, a new heterozygous KISS1R variant (p.E252Q) was identified in a male patient with sporadic nIHH. However, in vitro studies of this variant did not demonstrate functional impairment. Only known polymorphisms were identified in patients with CDP. Conclusion: Loss-of-function mutations of KISS1R represents a rare cause of nIHH, and was absent in patients with CDP. We have described a novel KISS1R homozygous splice acceptor site mutation in the familial form of nIHH.Fundacao de Amparo Estado de Sao Paulo - FAPESP[05/04726-]Fundacao de Amparo Estado de Sao Paulo - FAPESP[0550146-5]Eunice Kennedy Shriver NICHD/NI

Controle de mosca-branca com extratos vegetais, em tomateiro cultivado em casa-de-vegetação Use of plant extracts on whitefly control in tomato grown in greenhouse

Visando buscar métodos alternativos no controle da mosca-branca Bemisia tabaci (Gennadius) biótipo B em tomateiro, foram realizados testes de atratividade e preferência para oviposição em casa-de-vegetação, utilizando-se quatorze extratos aquosos a 3% (peso/volume). Os extratos foram preparados com partes de Azadirachta indica, Trichilia pallida,Chenopodium ambrosioides,Piper nigrum,Melia azedarach,Ruta graveolens,Ricinus communis,Mentha pulegium,Tagetes erecta,Eucalyptus citriodora,Cymbopogon nardus e Coriandrum sativum. Numa segunda etapa, os extratos mais eficientes em casa-de-vegetação foram observados em laboratório, a fim de avaliar o possível efeito sistêmico dos mesmos sobre ninfas da mosca-branca. Constatou-se que as plantas de tomateiro pulverizadas com extratos à base de folhas de M. pulegium e folhas e sementes de A. indica foram menos atrativas aos adultos do inseto. Plantas pulverizadas com extratos de folhas de A. indica e folhas + ramos de R. communis mostraram efeitos deterrentes à oviposição do inseto, reduzindo o número de ovos; em contrapartida, o extrato à base de folhas de C. nardus estimulou a oviposição da mosca-branca sobre as plantas. O uso dos extratos por via sistêmica não afetou o período de desenvolvimento (ovo-adulto) da mosca-branca; entretanto, a presença de extratos de sementes e folhas de A. indica e de folhas de M. pulegium provocou aumento significativo na mortalidade de ninfas de B. tabaci biótipo B.<br>Looking for alternative methods of control to silverleaf whitefly Bemisia tabaci (Gennadius) biotype B in tomato, attractiveness and oviposition preference tests were accomplished in greenhouse using fourteen aqueous extracts at 3% (weight/volume). The extracts were prepared with parts from Azadirachta indica,Trichilia pallida,Chenopodium ambrosioides,Piper nigrum,Melia azedarach,Ruta graveolens,Ricinus communis,Mentha pulegium,Tagetes erecta,Eucalyptus citriodora, Cymbopogon nardus and Coriandrum sativum. The most efficient extracts in greenhouse were also tested in laboratory to evaluate the possible systemic effect on whitefly nymphs. Tomato plants sprayed with extracts of leaves from M. pulegium, leaves and seeds from A. indica were less attractive to the adults of the insect. Plants sprayed with extracts of leaves from A. indica and leaves + branches from R. communis showed deterrent effects on the insect oviposition, reducing the number of eggs; in an opposite way, the extract of leaves from C. nardus stimulated the whitefly oviposition on the plants. The use of extracts in a systemic way did not affect the whitefly development period (egg-adult). The extracts of seeds and leaves from A. indica and leaves from M. pulegium increased the mortality of nymphs of B. tabaci biotype B