Mutations in NYX and CACNA1F gene are responsible for the X-linked congenital stationary night blindness (CSNB). In this study, we described the clinical characters of the two Chinese families with X-linked CSNB and detected two novel mutations of c. 371_377delGCTACCT and c.214A>C in the NYX gene by direct sequencing. These two mutations would expand the mutation spectrum of NYX. Our study would be helpful for further studying molecular pathogenesis of CSNB.
An association between the reduced FC and FD amplitudes and the AHP in children when watching TV is proposed in the study. This kind of AHP is considered to be an anomalous manifestation which appears in a part of puerile patients of fusional vergence dysfunction.
Enteroviruses is a group of positive single-stranded RNA viruses ubiquitous in the environment, which is a causative agent of epidemic diseases in children and infants. But data on neonates are still limited. The present study aimed to describe the clinical characteristics of enterovirus infection in neonates and arise the awareness of this disease to general public.
Between March 2018 and September 2019, data from all of the neonates diagnosed with enterovirus infection were collected and analyzed from neonatal intensive care unit of Zhangzhou Hospital in Fujian, China.
A total of 23 neonates were enrolled. All of them presented with fever (100%), and some with rashes (39.1%). The incidence of aseptic meningitis was high (91.3%), but only a small proportion (28.6%) presented with cerebrospinal fluid (CSF) leukocytosis. The positive value for nucleic acid detection in CSF was significantly higher than throat swab (91.3% vs 43.5%,
P
= .007). Five of the infected neonates presented with aseptic meningitis (23.8%) underwent brain magnetic resonance imaging examination and no craniocerebral injuries were found. Subsequent follow-ups were performed in 15 of them (71.4%) and no neurological sequelae was found.
Aseptic meningitis is a common type of enterovirus infection in neonates with a benign course. Nucleic acid detection of CSF has an important diagnostic value. Febrile neonates would be suggested to screen for enterovirus infection in addition to complete septic workup. An unnecessary initiation or earlier cessation of antibiotics could be considered in enterovirus infection, but that indications still need further studies to guarantee the safety.
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