Clinical and molecular heterogeneity in brazilian patients with sotos syndrome.

Sotos syndrome (SoS) is a multiple anomaly, congenital disorder characterized by overgrowth, macrocephaly, distinctive facial features and variable degree of intellectual disability. Haploinsufficiency of the NSD1 gene at 5q35.3, arising from 5q35 microdeletions, point mutations, and partial gene deletions, accounts for a majority of patients with SoS.

Phylogeny, ultrastructure and histopathology of Myxobolus lomi sp. nov., a parasite of Prochilodus lineatus (Valenciennes, 1836) (Characiformes: Prochilodontidae) from the Peixes River, São Paulo State, Brazil.

This paper presents the morphological, histological, molecular and ultrastructural data on Myxobolus lomi sp. nov., a parasite of the gill filaments of Prochilodus lineatus from the Peixes River (48º06'38″W; 22º 49'53.

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.

Smith-Magenis syndrome (SMS) is a complex disorder whose clinical features include mild to severe intellectual disability with speech delay, growth failure, brachycephaly, flat midface, short broad hands, and behavioral problems. SMS is typically caused by a large deletion on 17p11.2 that encompasses multiple genes including the retinoic acid induced 1, RAI1, gene or a mutation in the RAI1 gene.

In vitro antibacterial effect of aqueous and ethanolic Moringa leaf extracts.

Objective: To evaluate the antibacterial effect of aqueous and ethanolic moringa leaf extracts (Moringa oleifera) on the growth of gram-positive and negative bacteria.

Methods: Paper disks were soaked with 100, 200, 300 and 400 μL of extract at 20 g/180 mL and 10 g/190 mL. All extracts were tested against Escherichia coli (ATCC25922), Staphylococcus aureus (ATCC25923), Vibrio parahaemolyticus, Enterococcus faecalis (ATCC29212), Pseudomonas aeruginosa (ATCC27853), Salmonella enteritidis (IH) and Aeromonas caviae.

The ultrastructure of the spermatozoon of the lizard Iguana iguana (Reptilia, Squamata, Iguanidae) and the variability of sperm morphology among iguanian lizards.

The spermatozoon of Iguana iguana is filiform and resembles that of other iguanian lizards, being most similar to Tropidurus. All sperm synapomorphies of Tetrapoda, Amniota and Squamata are present in the sperm of Iguana iguana. By reconstructing the evolution of 30 sperm characters we identified a novel synapomorphy of Iguania: the presence of a well-developed acrosomal ridge at the level of the epinuclear lucent zone.