Efecto biostimulante de Trichoderma atroviride en zapallo anco (Cucurbita moschata Duch. ex Poir)

The biostimulant effect of Trichoderma atroviride on seedling growth and commercial yield of pumpkin (Cucurbita moschata) has been assessed. The seedling stage was evaluated in a greenhouse and the treatments were T0: control -without inoculation-; T1: 200 ml.m-2 and T2: 500 ml.m-2 of T. atroviride SC 108 conidia. After 30 days, number of plants; root length; seedling height; number of sheets; aerial and root fresh and dry weight and root/aerial index were evaluated. Significant differences were found for seedling height in T1 compared to T0 and T2. The average air fresh weight was significantly higher in T1 compared to T2. The root fresh weight was statistically higher in T2 compared to the rest. Seedlings treated with higher doses of T. atroviride registered an increase in root mass, and below ground biomass indexes were closer to 1. The other variables did not register any statistical difference between treatments and T0. In the field, the treatments were as follows: T0: without inoculation; T2 and T3 inoculated with 20 ml.m-2 and 50 ml.m-2 in seedling stage respectively, and addition of 3 l.ha-1 of T. atroviride SC 108 conidia to the transplant. At 100, 108 and 115 days after the transplant (DPT), it was harvested. The number of plants that remained until the harvest and the fruits’ ammount and weight per plant were considered. T2 differed significantly, surpassing T0 and T1 in number of plants at harvest time. The amount of fruits did not show significant differences along the harvests. However, T2 showed greater weight of commercial fruits harvested at 108 DPT, providing greater precocity.Se evaluó el efecto bioestimulante de Trichoderma atroviride en el crecimiento de plantines y rendimiento comercial de zapallo (Cucurbita moschata). La etapa de plantin se evaluó en invernadero y los tratamientos fueron T0: control -sin inocular-; T1: 200 ml.m-2 y T2: 500 ml.m-2 de T. atroviride SC 108 conidios. A los 30 días se evaluó: número de plantas; longitud radical; altura del plantín; número de hojas; peso fresco y seco aéreo y radical e índice raíz/aéreo. Se halló diferencias significativas para altura de plantín en T1 respecto de T0 y T2. La media del peso fresco aéreo fue significativamente superior en T1 respecto a T2. El peso fresco radical fue superior estadísticamente en T2 respecto al resto. Plantines tratados con dosis más alta de T. atroviride registraron aumento en masa radical, e índices raíz/aéreo próximos a 1. El resto de las variables no registraron diferencias estadísticas entre tratamientos y T0. A campo, los tratamientos fueron T0: sin inocular; T2 y T3 inoculados con 20 ml.m-2 y 50 ml.m-2 en etapa de plantin respectivamente, y adición de 3 l.ha-1 de T. atroviride SC 108 conidios al trasplante. Se cosechó 100, 108 y 115 días posteriores al trasplante (DPT). Se evaluó cantidad de plantas que prosperaron a cosecha, número y peso de frutos por planta. El T2 se diferenció significativamente superando a T0 y T1 en número de plantas a cosecha. El número de frutos no mostró diferencias significativas en las diferentes cosechas. No obstante, T2 evidenció mayor peso de frutos comerciales cosechados a los 108 DPT, dando una mayor precocidad

DNM1 encephalopathy: A new disease of vesicle fission.

ObjectiveTo evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling.MethodsWe reviewed phenotypic data of 21 patients (7 previously published) with DNM1 mutations. We compared mutation data to known functional data and undertook biomolecular modeling to assess the effect of the mutations on protein function.ResultsWe identified 19 patients with de novo mutations in DNM1 and a sibling pair who had an inherited mutation from a mosaic parent. Seven patients (33.3%) carried the recurrent p.Arg237Trp mutation. A common phenotype emerged that included severe to profound intellectual disability and muscular hypotonia in all patients and an epilepsy characterized by infantile spasms in 16 of 21 patients, frequently evolving into Lennox-Gastaut syndrome. Two patients had profound global developmental delay without seizures. In addition, we describe a single patient with normal development before the onset of a catastrophic epilepsy, consistent with febrile infection-related epilepsy syndrome at 4 years. All mutations cluster within the GTPase or middle domains, and structural modeling and existing functional data suggest a dominant-negative effect on DMN1 function.ConclusionsThe phenotypic spectrum of DNM1-related encephalopathy is relatively homogeneous, in contrast to many other genetic epilepsies. Up to one-third of patients carry the recurrent p.Arg237Trp variant, which is now one of the most common recurrent variants in epileptic encephalopathies identified to date. Given the predicted dominant-negative mechanism of this mutation, this variant presents a prime target for therapeutic intervention

Analysis of EEG patterns and genotypes in patients with Angelman syndrome.

We prospectively analyzed EEGs from participants in the ongoing NIH Rare Diseases Clinical Research Network Angelman Syndrome Natural History Study. Of the one-hundred-sixty enrolled patients (2006-2010), 115 had complete data (58 boys, median age 3.6 years). Distinct EEG findings were intermittent rhythmic delta waves (83.5%), interictal epileptiform discharges (74.2%), intermittent rhythmic theta waves (43.5%), and posterior rhythm slowing (43.5%). Centro-occipital and centro-temporal delta waves decreased with age (p=0.01, p=0.03). There were no specific correlations between EEG patterns and genotypes. A classification tree allowed the prediction of deletions class-1 (5.9 Mb) in patients with intermittent theta waves in50% theta and normal posterior rhythm; atypical deletions in patients with \u3e50% theta but abnormal posterior rhythm. EEG patterns are important biomarkers in Angelman syndrome and may suggest the underlying genetic etiology

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

Joubert syndrome-related disorders (JSRDs) are autosomal recessive pleiotropic conditions sharing a peculiar cerebellar and brainstem malformation known as the 'molar tooth sign' (MTS). Recently, mutations in a novel ciliary gene, RPGRIP1L, have been shown to cause both JSRDs and Meckel-Gruber syndrome. We searched for RPGRIP1L mutations in 120 patients with proven MTS and phenotypes representative of all JSRD clinical subgroups. Two homozygous mutations, the previously reported p.T615P in exon 15 and the novel c.2268_2269delA in exon 16, were detected in 2 of 16 families with cerebello-renal presentation ( approximately 12%). Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (<2%)