A Novel MGP Gene Mutation Causing Keutel Syndrome in a Brazilian Patient.

Keutel syndrome is caused by mutations in the matrix gamma-carboxyglutamic acid (MGP) gene (OMIM 154870) and is inherited in an autosomal recessive fashion. It is characterized by brachydactyly, pulmonary artery stenosis, a distinctive facial phenotype, and cartilage calcification. To date, only 36 cases have been reported worldwide. We describe clinical and molecular findings of the first Brazilian patient with Keutel syndrome. Keutel syndrome was suspected based on clinical and morphological evaluation, so we sequenced the MGP gene using the TruSight One Sequencing Panel (Illumina). The obtained MGP gene sequence was then validated by Sanger sequencing. We identified a novel pathogenic homozygous variant of the MGP gene (c.2T>C; p.Met1Thr) confirming Keutel syndrome. Proper diagnosis of this syndrome is important for clinical management and is an indication for genetic counseling. Keutel syndrome should be suspected in patients with cartilage calcifications and brachydactyly when associated with a distinctive facial phenotype and pulmonary artery stenosis.

Parasitas zoonóticos em fezes de cães em praças públicas do município de Itabuna, Bahia, Brasil / Zoonotic parasites in dog feces at public squares in the municipality of Itabuna, Bahia, Brazil

The contamination of public squares by zoonotic potential parasites was evaluated at the urban areas in the municipality of Itabuna Brasil. For such, 119 fecal samples of dogs were collected at 10 public squares. After that, these feces samples were transported to the Parasitology Laboratory in the UESC and they were analyzed by Mariano and Carvalho's method. Of the total analized samples, 56.3 percent show some parasitic evolutive form. Ancylostoma sp. was the most frequently (47.9 percent), followed by Strongyloides stercortalis (6.7 percent), Toxocara canis and Trichuris vulpis eggs (4.2 percent) each, Endolimax nana cysts (2.5 percent), and Giardia intestinalis and Entamoeba coli cysts (0.8 percent) each.

Avaliou-se a contaminação de praças públicas da área urbana do município de Itabuna, BA, Brasil, por parasitos zoonóticos presentes em fezes de cães. Foram coletadas 119 amostras fecais de cães em 10 praças. Logo após, estas fezes foram encaminhadas ao Laboratório de Parasitologia da UESC e analisadas pelo método de Mariano e Carvalho. Do total das amostras analisadas, 56,3 por cento continham alguma forma evolutiva parasitária, sendo o parasita mais freqüente Ancylostoma sp. com 47,9 por cento, seguido por 6,7 por cento de Strongyloides stercortalis, 4,2 por cento tanto para ovos de Toxocara canis quanto de Trichuris vulpis, 2,5 por cento para cistos de Endolimax nana, e 0,8 por cento tanto para cistos de Giardia intestinalis quanto para os de Entamoeba coli.

[Zoonotic parasites in dog feces at public squares in the municipality of Itabuna, Bahia, Brazil]. / Parasitas zoonóticos em fezes de cães em praças públicas do município de Itabuna, Bahia, Brasil.

The contamination of public squares by zoonotic potential parasites was evaluated at the urban areas in the municipality of Itabuna Brasil. For such, 119 fecal samples of dogs were collected at 10 public squares. After that, these feces samples were transported to the Parasitology Laboratory in the UESC and they were analyzed by Mariano and Carvalho's method. Of the total analized samples, 56.3% show some parasitic evolutive form. Ancylostoma sp. was the most frequently (47.9%), followed by Strongyloides stercortalis (6.7%), Toxocara canis and Trichuris vulpis eggs (4.2%) each, Endolimax nana cysts (2.5%), and Giardia intestinalis and Entamoeba coli cysts (0.8%) each.