Pyridox(am)ine 5 0 -phosphate oxidase deficiency results in an early-onset neonatal encephalopathy that can be fatal if not detected and treated early. The condition is rare, can result in preterm delivery, and can mimic hypoxic ischemic encephalopathy. Thus, suspicion of the diagnosis, appropriate investigations, and therapeutic trials with pyridoxal-5 0 -phosphate are often delayed. In this paper we report four cases of pyridox(am)ine 5 0 -phosphate oxidase deficiency, two of whom are siblings. Three were treated with pyridoxal-5 0 -phosphate in the first few days of life and the fourth within the first month. One of the siblings was electively treated from birth until a diagnosis was secured. Our cases demonstrate that early diagnosis and treatment can be associated with normal neurodevelopment in childhood. We suggest that a low threshold for investigating for pyridox(am)ine 5 0 -phosphate oxidase deficiency and electively treating with pyridoxal-5 0 -phosphate is considered in any neonate with encephalopathy, including those with presumed hypoxic ischemic encephalopathy in whom the degree of encephalopathy is not expected from perinatal history, cord gases and/or neuroimaging.
Despite optimal preoperative prognostic factors and excellent functional outcomes, MRI evidence of early articular cartilage degeneration was present in both partial medial and lateral meniscectomy patients at a minimum 5-year follow-up. Results support the use of cartilage-sensitive MRI as a noninvasive screening technique to evaluate cartilage changes after arthroscopic partial meniscectomy and may help to counsel the high-risk patient in regard to postoperative activity.
Background: Computer navigation and image-derived instrumentation (IDI) are technology-based methods developed to improve outcomes and potentially reduce revision total knee arthroplasty (TKA). IDI refers to the use of manufactured, patient-specific surgical jigs. Conflicting reports exist on IDI-associated improvements in outcomes. The primary aim of the current study was to compare the rates of revision among TKA cases in which components were initially implanted with use of IDI, computer navigation, or neither of these methods (“other” TKA). The secondary aim was to determine whether the outcomes of IDI differed for specific subgroups. Methods: Data were obtained from the Australian Orthopaedic Association National Joint Replacement Registry (AOANJRR) for the 3 TKA groups: IDI, computer-navigated, and other TKA. The study period was from the first IDI procedure recorded by the AOANJRR (April 2010) to December 31, 2016. The analysis was restricted to primary TKA cases undertaken for osteoarthritis and involving patellar resurfacing and the use of a cross-linked polyethylene insert. Subanalyses were performed to evaluate the effects of age, sex, implantation method, IDI manufacturer, prosthetic design, and prosthesis type on the rates of revision. Kaplan-Meier estimates of survivorship described the time to first revision. Hazard ratios (HRs, Cox proportional hazards models) with adjustment for age and sex were used to compare revision rates. Results: IDI was used in 5,486 primary TKA procedures. There was no significant difference among the groups in the cumulative percent revision (CPR) at 5 years: 3.3% (95% confidence interval [CI], 2.4% to 4.6%) for IDI, 2.4% (95% CI, 2.2% to 2.7%) for the computer-navigated group, and 2.5% (95% CI, 2.3% to 2.7%) for other TKA. Posterior-stabilized TKA with use of the IDI method had a significantly higher rate of revision at >3 months (HR, 1.45 [95% CI, 1.02 to 2.04]; p = 0.036), as did IDI TKA in the ≤65-year-old patient cohort (HR, 1.52 [95% CI, 1.10 to 2.09]; p = 0.010), compared with computer-navigated TKA. Patellar revision was significantly more likely in the IDI group. Conclusions: IDI TKA demonstrated no overall difference in early to mid-term revision rates compared with standard implantation methods. However, elevated rates of revision were seen with posterior-stabilized TKA, in patients ≤65 years of age, and for patellar revision, meaning that this method should be used with some caution and requires further study. Level of Evidence: Therapeutic Level III. See Instructions for Authors for a complete description of levels of evidence.
COPA syndrome is a recently described autosomal dominant disorder with key immune dysregulation caused by defects within the COPA gene. These mutations lead to endoplasmic reticulum stress and autoimmune response with upregulation of Th17 cytokines. The clinical phenotype of COPA syndrome primarily comprised pulmonary disease, arthritis, and renal disease secondary to immune dysregulation, with onset of symptoms commonly in the first decade of life. Herein, we describe a family with an attenuated Behçet-like phenotype of COPA syndrome, further expanding the phenotypic understanding of this syndrome.
Background: Infertility is a significant problem with multiple causes and a corresponding array of therapeutic options. In an era of increasing assisted reproductive treatments, few studies examine the role of conventional non-assisted reproductive treatments to address underlying behavioural, lifestyle and medical issues. Aim: To assess outcomes from a conventional or non-assisted reproductive treatment approach Materials and Methods: Retrospective case series of 162 couples that attended an Australian, hospital-based, multidisciplinary fertility clinic between 2005 and 2010. Results: There were 58 live births for all couples giving a crude live birth rate of 35.4% over a 24-month analysis period. When adjusted by Kaplan-Meier method, a 57.4% cumulative live birth rate (CLBR) was achieved. Couples had a median 33.9 months duration of infertility and the median female age was 33.7. For the 74 couples with an unexplained infertility diagnosis, 32 achieved a live birth at a crude rate of 43.2% or 71.2% CLBR when adjusted by Kaplan-Meier method. Conclusions: This observational data indicates that reproductive medicine should have a personalized approach in which alternatives for immediate IVF are considered.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.