Infantile spasms caused by NEXMIF mutation: A case report and literature review.

BACKGROUND: Infantile spasms are rare epileptic syndromes associated with neurodevelopment and genes. The NEXMIF gene, identified as KIDLIA, KIAA2022 or Xpn, is a gene of unknown biological identity located on the q13.2 X chromosome. CASE DESCRIPTION: We presented a 4-month-old infant with a diagnosis of infantile spasms with NEXMIF mutation. Clinical manifestations include psychomotor retardation, loss of consciousness, and seizures. After oral therapy with vigabatrin, sodium valproate, and levetiracetam, the syndrome was alleviated and no recurrence was observed during one month of follow-up. CONCLUSIONS: A loss-of-function mutation in the NEXMIF gene has been reported. There are few reports on this mutation worldwide. This study provides a new idea for the clinical treatment of infantile spasms.

Analysis of biometric parameters of cataract eyes measured with optical biometer Lenstar LS900, IOL Master 700, and OPD-SCAN III.

BACKGROUND: To compare the characteristics of biometric measurements among the LS900, IOL Master, and OPD-SCAN III in patients with mild-to-moderate cataract. METHODS: We recruited 85 eyes of 78 patients diagnosed with mild-to-moderate cataract at our hospital between January and April 2023. The K (average corneal curvature; K1 and K2), astigmatism (AST), and white to white (WTW) were measured using those three devices, respectively. Differences and correlations between those measures based on the device were explored. RESULTS: The K1, K2, and AST were highly consistent among the groups (P = 0.851, P = 0.626, P = 0.473, respectively). The WTW measured by IOL Master were larger than those measured by the LS900 and OPD-SCAN III (all P < 0.001). However, all three devices were highly correlated in all measures (P < 0.001). Bland-Altman plots indicated a significant agreement between three devices in all measurements (P < 0.001). CONCLUSIONS: K1, K2, and AST in patients with mild-to-moderate cataract were similar among all three devices, whereas the WTW were not. WTW measurement differences between three devices should be concerned in cataract cases.

Agreement of anterior segment measurements between LenStar LS 900 optical biometer and OPD Scan III wavefront aberrometer devices in eyes with cataract.

PURPOSE: To compare the inter-device agreement of anterior eye segment measurements between LenStar LS 900 optical biometer and OPD Scan III wavefront aberrometer. METHODS: This is a retrospective study involving 59 patients (78 eyes) with cataract. Their angle Alpha, angle Kappa, pupil size and white-to-white (WTW) distance were measured by LenStar LS 900 optical biometer and OPD Scan III wavefront aberrometer, respectively, and pairwise agreement comparisons were performed between them. RESULTS: The most agreement of various parameters was occurred, with intraclass correlation coefficient (ICC) of WTW = 0.930; angle Alpha = 0.853; angle Kappa = 0.898; and pupil size = 0,976 in bright environment. Furthermore, in dark environment, the ICC of WTW, angle Alpha, angle Kappa, and pupil size were 0.927, 0.791, 0.915, and 0.990, respectively. Bland-Altman plot showed similar excellent agreement in the outcomes of the two devices for these measurements testing. CONCLUSIONS: There was an excellent agreement between the LenStar LS 900 optical biometer and OPD Scan III wavefront aberrometer for WTW, angle Alpha, angle Kappa, and pupil size measurements. In clinical practice, these measurements obtained by LenStar LS 900 optical biometer and OPD Scan III wavefront aberrometer can be used interchangeably.