RESUMO
BACKGROUND: Joubert syndrome is an autosomal recessive or X-linked genetic disease with a cerebellar vermis defect or hypoplasia, hypotonia, ocular dyskinesia, and mental retardation. In neonates, respiratory problems such as apnea and tachypnea are notable. CASE REPORT: We report a patient Joubert syndrome with a homozygous NPHP1 variant, who had head titubation with irritability, including exaggerated jitteriness and a marked Morrow reflex appeared soon after birth without neonatal respiratory problems. These symptoms decreased gradually and disappeared until 1 year. CONCLUSION: Irritability with head titubation may be an early clinical clue for the clinician to suspect Joubert syndrome.
Assuntos
Anormalidades Múltiplas/genética , Proteínas Adaptadoras de Transdução de Sinal/genética , Cerebelo/anormalidades , Proteínas do Citoesqueleto/genética , Anormalidades do Olho/genética , Doenças Renais Císticas/genética , Retina/anormalidades , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/patologia , Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Pré-Escolar , Anormalidades do Olho/complicações , Anormalidades do Olho/diagnóstico por imagem , Anormalidades do Olho/patologia , Feminino , Movimentos da Cabeça/fisiologia , Humanos , Humor Irritável/fisiologia , Doenças Renais Císticas/complicações , Doenças Renais Císticas/diagnóstico por imagem , Doenças Renais Císticas/patologia , Retina/diagnóstico por imagem , Retina/patologia , Tremor/etiologia , Tremor/fisiopatologiaRESUMO
Bovine leukemia virus (BLV) is horizontally transmitted among cattle through infected blood. This 3-year field study (2013-2016) aimed to confirm the potential of the blood-sucking stable fly as a risk factor of BLV transmission and to determine the efficacy of vector control on preventing the transmission of BLV. The BLV-positive conversion rate during summer was higher than that during winter in a model dairy farm, where many stable flies were observed during the summer. After fly nets were fixed onto the barn to prevent fly invasion, the BLV-positive conversion rate during the summer was significantly decreased compared with that in the absence of fly nets (P<0.01). These findings suggest that vector control using a fly net may inhibit BLV transmission.