Allele frequency of nonsense mutation responsible for hereditary nephropathy in English cocker spaniel dogs.

Hereditary nephropathy is a primary progressive glomerular disease in dogs associated with the c.115A>T mutation in the COL4A4 gene in English cocker spaniel (ECS) dogs. The disease is inherited in an autosomal recessive manner. Hereditary nephropathy has been described in this breed since the late 1940s. To date, there are no data on the prevalence of this disease in Brazil, so the aim of this study was to evaluate the allelic frequency of this mutation in ECS dogs in this country. The DNA samples were purified from blood samples or buccal swabs from 221 ECS dogs. Fragments of the DNA containing the mutation were amplified by PCR and submitted to direct gene sequencing. The allele frequency of the mutation was 0.9%. The presence of the mutation in the ECS dog population in Brazil reveals the importance of performing the genotyping tests in these dogs as a method of diagnosing the disease and identifying heterozygous animals, aiming to reduce clinical cases of disease through mating.

Prevalência de Sintomas de Ansiedade e Depressão em Estudantes de Medicina / Prevalence of Anxiety and Depression Symptoms among Medicine Students

Objetivos Determinar a prevalência de sintomas de ansiedade e depressão em estudantes de Medicina e avaliar fatores associados. Métodos Estudo de corte transversal com 234 estudantes que responderam a um questionário eletrônico com variáveis sociodemográficas e a Escala Hospitalar de Ansiedade e Depressão (Ehad). Resultados Em relação à ansiedade, o escore médio da Ehad foi de 6,7 (DP: +/- 3,4), com 34,3% (80) apresentando sintomas falso-positivos de ansiedade e 19,7% (46) manifestando sintomas sugestivos do transtorno. Quanto à depressão, o escore médio da Ehad foi de 4,4 (DP: +/- 3,1), com 19,3% (45) apresentando sintomas falso-positivos para depressão e 5,6% (13) manifestando sintomas sugestivos do transtorno. Na análise univariada, o uso de drogas psicoativas associou-se à presença de sintomas de ansiedade; para sintomas de depressão, o estudante ser procedente da RMR foi fator protetor, ao passo que o uso de drogas ilícitas foi associado a risco. Conclusão A prevalência de sintomas de ansiedade e depressão associada ao uso de drogas psicoativas e ilícitas, respectivamente, indica a necessidade de medidas de prevenção e diagnóstico precoces. .

Objectives To determine the prevalence of symptoms of anxiety and depression in medical students and evaluate associated factors. Methods Cross-sectional study involving 234 students, who answered an online questionnaire containing sociodemographic factors and the Hospital Anxiety and Depression Scale (HADS). Results The mean score of the Hospital Anxiety and Depression Scale for anxiety was 6.7 (+/- 3.4), while 34.3% (80) of the students presented false-positive symptoms of anxiety and 19.7% (46) suggestive symptoms. In terms of depression the mean HADS score was 4.4 (+/- 3.1), with 19.3% (45) of the students presenting false-positive symptoms of depression and 5.6% presenting suggestive symptoms. In the univariate analysis, psychoactive drugs use was associated with symptoms of anxiety, for symptoms of depression, being from the Metropolitan Region of Recife (RMR) was found to be a protective factor, as illicit drugs use was associated to risk. Conclusion The prevalence of anxiety and depression symptoms, associated to the use of psychoactive and illicit drugs respectively, indicates the need for measures aimed at prevention and early diagnosis. .

[Maternal and perinatal outcomes in women with decreased amniotic fluid]. / Desfechos maternos e perinatais em gestantes com líquido amniótico diminuído.

PURPOSE: To determine maternal and perinatal outcomes in pregnant women with low amniotic fluid, according to the amniotic fluid index (AFI). METHODS: A cohort study conducted on 176 patients admitted to the high risk ward of Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), in Recife, Pernambuco, Brazil. Amniotic fluid was measured by the amniotic fluid index, and classified as low when between 5.1 and 7.9 cm, moderate oligohydramnios between 3.1 and 5.0 cm, and severe oligohydramnios when less than or equal to 3.0 cm. To determine the difference between the three groups of categorical variables studied the chi-square and Fisher exact tests were used, when applicable, and for the numerical variables the Mann-Whitney test was applied, with the level of significance set at 5%. RESULTS: Fetal malformation more frequently occurred when oligohydramnios was severe. Hypertensive disorders, however, were associated with moderate oligohydramnios. There was similarity between the three groups in relation to premature rupture of membranes and other causes. Low amniotic fluid was more frequently diagnosed when tested at the gestational age of 32 weeks or earlier. Regarding the perinatal outcomes, the incidence of Apgar score <7 in the 1st and 5th minutes, perinatal death, neonatal jaundice and pulmonary hypoplasia was higher when oligohydramnios was moderate to severe. CONCLUSIONS: Maternal and perinatal causes and outcomes in pregnant women with low amniotic fluid vary with respect to their AFI, severe oligohydramnios being associated with fetal malformation and other adverse perinatal outcomes.

Desfechos maternos e perinatais em gestantes com líquido amniótico diminuído / Maternal and perinatal outcomes in women with decreased amniotic fluid

OBJETIVO: Determinar os desfechos maternos e perinatais em gestantes com o líquido amniótico diminuído segundo o índice de líquido amniótico (ILA). MÉTODOS: Realizou-se estudo de coorte com 176 pacientes admitidas na enfermaria de alto risco do Instituto de Medicina Integral Prof. Fernando Figueira (IMIP. O líquido amniótico foi mensurado pelo índice de líquido amniótico , sendo classificado como diminuído, quando entre 5,1 e 7,9 cm; oligohidrâmnio moderado, entre 3,1 e 5,0 cm; e grave, quando menor ou igual a 3,0 cm. Para se determinar a diferença entre os três grupos das variáveis categóricas estudadas, foram utilizados o teste de chi-quadrado e exato de Fisher, quando pertinentes, e, para as variáveis numéricas, utilizou-se o teste de Mann Whitney, em um nível de significância de 5%. RESULTADOS: As malformações fetais ocorreram mais frequentes quando o oligohidrâmnio foi grave, enquanto as síndromes hipertensivas foram associadas ao oligohidrâmnio moderado. Observou-se semelhança entre os três grupos em relação à rotura prematura das membranas e outras causas. O líquido amniótico reduzido foi encontrado com maior frequência quando a idade gestacional do diagnóstico foi ≥32ª semana. Em relação aos desfechos perinatais, a incidência de índice de Apgar <7 no 1ºe 5ºminuto do óbito perinatal, da icterícia neonatal e da hipoplasia pulmonar foi mais elevada na presença do oligohidrâmnio moderado a grave. CONCLUSÕES: As causas e os desfechos maternos e perinatais em gestantes com líquido amniótico reduzido varia em relação a sua classificação pelo ILA, estando o oligohidrâmnio grave associado aos desfechos perinatais adversos e às malformações fetais.

PURPOSE: To determine maternal and perinatal outcomes in pregnant women with low amniotic fluid, according to the amniotic fluid index (AFI). METHODS: A cohort study conducted on 176 patients admitted to the high risk ward of Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), in Recife, Pernambuco, Brazil. Amniotic fluid was measured by the amniotic fluid index, and classified as low when between 5.1 and 7.9 cm, moderate oligohydramnios between 3.1 and 5.0 cm, and severe oligohydramnios when less than or equal to 3.0 cm. To determine the difference between the three groups of categorical variables studied the chi-square and Fisher exact tests were used, when applicable, and for the numerical variables the Mann-Whitney test was applied, with the level of significance set at 5%. RESULTS: Fetal malformation more frequently occurred when oligohydramnios was severe. Hypertensive disorders, however, were associated with moderate oligohydramnios. There was similarity between the three groups in relation to premature rupture of membranes and other causes. Low amniotic fluid was more frequently diagnosed when tested at the gestational age of 32 weeks or earlier. Regarding the perinatal outcomes, the incidence of Apgar score <7 in the 1st and 5th minutes, perinatal death, neonatal jaundice and pulmonary hypoplasia was higher when oligohydramnios was moderate to severe. CONCLUSIONS: Maternal and perinatal causes and outcomes in pregnant women with low amniotic fluid vary with respect to their AFI, severe oligohydramnios being associated with fetal malformation and other adverse perinatal outcomes.