Medicine
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Mitochondrial complex I deficiency (MCID) and abbFINCA syndrome are lethal congenital diseases and cases in the neonatal period are rarely reported. Here, we identified a Chinese Hani minority neonate with rare MCID and FINCA syndrome. This study was to analyze the clinical manifestations and pathogenic gene variations, and to investigate causes of quick postnatal death of patient and possible molecular pathogenic mechanisms. ⋯ The patient has MCID due to a novel mutation in NDUFS6 and FINCA syndrome due to novel mutations in NHLRC2, which is the main reason for the rapid onset and quick death of the patient.
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Observational Study
Results of intravitreal dexamethasone implant (Ozurdex®) for retinal vascular diseases with macular edema: An observational study of real-life situations.
To evaluate the efficacy of intravitreal dexamethasone implants (Ozurdex®) for the treatment of macular edema (ME) associated with retinal vascular diseases in real-life situations. This retrospective study included patients with ME associated with retinal vascular occlusion (RVO) or diabetic macular edema (DME) treated with dexamethasone implants. Demographic data, best-corrected visual acuity (BCVA), and central retinal thickness (CRT) at baseline and at 1, 3, and 6 months postoperatively were collected and analyzed, and the adverse events were recorded. ⋯ The visual acuity was greater in the RVO and treatment-naïve eyes. Reinjection may be associated with a high baseline CRT. The increase in the occurrence of IOP and cataract progression was similar to that reported in previous studies.
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Early predictors of severe coronavirus disease 2019 (COVID-19) would identify patients requiring intensive care. Recently, the monocyte distribution width (MDW) and presepsin level have been used for the early diagnosis of sepsis. Here, we assessed the utility of MDW and presepsin for the early assessment of COVID-19 severity. ⋯ The KL-6 level did not differ by disease severity at any time. Neutralizing antibodies were detected in 74 patients (91.4%) and the level of neutralization correlated significantly with COVID-19 severity (P < .001). The MDW and presepsin are useful indicators for early assessment of disease severity in COVID-19 patients.
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Prenatal and perinatal infections and inflammation appear to associated with the development of retinopathy of prematurity (ROP). In this study, we evaluated whether inflammatory mediators in amniotic fluid (AF) retrieved during cesarean delivery influence the development of ROP in very low birth weight (VLBW) infants. This retrospective study included 16 and 32 VLBW infants who did and did not develop any stage of ROP, respectively. ⋯ Multivariate regression analysis showed that MMP-2 was a risk factor for the development of ROP (odds ratio, 2.445; 95% confidence interval, 1.170-5.106; P = .017). The concentration of MMP-2 in AF is an independent factor in the development of ROP. Further studies are needed to determine whether the levels of inflammatory mediators in AF affect the ROP severity.
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Total hip arthroplasty (THA) has been an effective tool of advanced hemophiliac hip arthritis. There are only limited data of bilateral synchronous THA for end-stage arthropathy in hemophilia A patients. The aim of this retrospective study was to analyze clinical outcome and complication rate of bilateral THA for hemophilia A patients with end-stage arthropathy of hip and review the operative strategy. ⋯ The mean amount of clotting factor VIII used in the perioperative period for management of hemophilia A was 30,600 U (range, 18,000-52,000 U). Average modified Harris hip score increased from 46.6 (range 28-70) points preoperatively to 90.2 (range 75-98) points at final follow-up, complications were few. With excellent operative techniques and hematological management, bilateral synchronous THA for end-stage arthropathy in hemophilia A patients can provide satisfactory outcomes.