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Caudal regression syndrome (CRS) represents a spectrum of clinical phenotypes with varying degrees of malformation of the lower body with involvement of structures deriving from all three layers of the trilaminar embryo. In this report we review areas of active investigation in the diagnosis, etiology, epidemiology, and treatment of the disease with a focus on underlying genetics. CRS pathobiology is complex and multifactorial with a significant contribution from environmental factors as evidenced in twin studies. Contemporary genomic and genetic investigations in both human primary tissue and murine in vitro and in vivo models implicate a variety of genes associated with caudal differentiation and neural cell migration in embryogenesis. A large number of identified targets center around the metabolic regulation of retinoic acid (RA) and its derivatives. Dysregulation of RA homeostasis has been associated with abnormal embryonic cell migration, differentiation, and organogenesis with resulting malformations and agenesis in both a laboratory and clinical setting. There appears to be a significant overlap in potential genetic targets with CRS and other developmental syndromes with similar presentations, such as VACTERL syndrome. CRS represents a spectrum of caudal developmental abnormalities with treatment options limited to mild and moderate expressions of disease. Continued research is necessary to further clarify the mechanisms of disease pathobiology and complex polygenetic and environmental interaction. Despite this, a fair amount of progress has been made in identifying genetic targets and downstream effectors contributing to pre-clinical and clinical progression.
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Name: World neurosurgery
Drug hypersensitivity reactions (DHRs) are associated with high global morbidity and mortality. Cutaneous T cell-mediated reactions classically occur more than 6 hours after drug administration and in...
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Klippel-Feil syndrome is a congenital defect in the formation or segmentation of the cervical spine. A wide spectrum of associated anomalies may be present. This heterogeneity has complicated clarific...
Acephalic spermatozoa syndrome (ASS) is characterized by a predominance of headless spermatozoa with abnormal head-tail junction in the ejaculate, which causes severe male infertility. The pathogenic ...
To summarize the ocular and systemic associations of floppy eyelid syndrome (FES) as well as provide an up-to-date review on the pathogenesis and treatment strategies.
This is a chart review. The aim of this study is to investigate the effectiveness and side effects of very low dose morphine administered caudally to children that went to surgical procedu...
Radiological study into the anatomical spread of caudal local anaesthetic in children age 1-7
Caudal epidural anesthesia is one of the most common regional techniques used for post-operative pain management in pediatric patients. In this study we are going to compare the effects of...
Regional analgesia via caudal neuraxial blockade provides pain relief for pediatric patients following urological and lower extremity procedures. The injection of local anesthetic into the...
Oral anticoagulation therapy (OAC) entails a high potential for adverse events and strict adherence is needed.Thus, medication review and identification of safety issues and knowledge gaps...
Review of the medical necessity of hospital or other health facility admissions, upon or within a short time following an admission, and periodic review of services provided during the course of treatment.
Procedures for finding the mathematical function which best describes the relationship between a dependent variable and one or more independent variables. In linear regression (see LINEAR MODELS) the relationship is constrained to be a straight line and LEAST-SQUARES ANALYSIS is used to determine the best fit. In logistic regression (see LOGISTIC MODELS) the dependent variable is qualitative rather than continuously variable and LIKELIHOOD FUNCTIONS are used to find the best relationship. In multiple regression, the dependent variable is considered to depend on more than a single independent variable.
Formal programs for assessing drug prescription against some standard. Drug utilization review may consider clinical appropriateness, cost effectiveness, and, in some cases, outcomes. Review is usually retrospective, but some analysis may be done before drugs are dispensed (as in computer systems which advise physicians when prescriptions are entered). Drug utilization review is mandated for Medicaid programs beginning in 1993.
Organizations representing designated geographic areas which have contracts under the PRO program to review the medical necessity, appropriateness, quality, and cost-effectiveness of care received by Medicare beneficiaries. Peer Review Improvement Act, PL 97-248, 1982.
Methods used to take into account and incorporate spatial autocorrelation and regional variation into regression analysis models of data that has spatial dependency, and also to provide information on the spatial relationships among the variables.