The Financial Burden of Surgery for Congenital Malformations-The Austrian Perspective.
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ABSTRACT:
SUBMITTER: Gasparella P
PROVIDER: S-EPMC8582705 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Congenital vertebral malformation is a series of significant health problems affecting a large number of populations. It may present as an isolated condition or as a part of an underlying syndromes occurring with other malformations and/or clinical features. Disruption of the genesis of paraxial mesoderm, somites or axial bones can result in spinal deformity. In the course of somitogenesis, the segmentation clock and the wavefront are the leading factors during the entire process in which TBX6 gene plays an important role. TBX6 is a member of the T-box gene family, and its important pathogenicity in spinal deformity has been confirmed. Several TBX6 gene variants and novel pathogenic mechanisms have been recently revealed, and will likely have significant impact in understanding the genetic basis for CVM. In this review, we describe the role which TBX6 plays during human spine development including its interaction with other key elements during the process of somitogenesis. We then systematically review the association between TBX6 gene variants and CVM associated phenotypes, highlighting an important and emerging role for TBX6 and human malformations.
| S-EPMC5302999 | biostudies-literature
Project description:Previous studies describe the financial burden of chronic rhinosinusitis (CRS) from the perspective of third-party payers, but, to our knowledge, none analyze the costs borne by patients (i.e., out-of-pocket expenses [OOPE]). Furthermore, this burden has not been previously investigated in the context of a publicly funded health care system.The purpose of this study was to characterize the financial impact of CRS on patients, specifically by evaluating its associated OOPEs and the perceived financial burden. The secondary aim was to determine the factors predictive of OOPEs and perceived burden.Patients with CRS at a tertiary care sinus center completed a self-administered questionnaire that assessed their socioeconomic characteristics, disease-specific quality of life (22-item Sino-Nasal Outcome Test [SNOT-22]), workdays missed due to CRS, perceived financial burden, and direct medical and nonmedical OOPEs over a 12-month period. Total OOPEs were calculated from the sum of direct medical and nonmedical OOPEs. Regression analyses determined factors predictive of OOPEs and the perceived burden.A total of 84 patients completed the questionnaires. After accounting for health insurance coverage and the median direct medical, direct nonmedical, and total OOPEs per patient over a 12-month period were Canadian dollars (CAD) $336.00 (2011) [U.S. $339.85], CAD $129.87 [U.S. $131.86], and CAD $607.10 [U.S. $614.06], respectively. CRS resulted in an average of 20.6 workdays missed over a 12-month period. Factors predictive of a higher financial burden included younger age, a greater number of previous sinus surgeries, <80% health insurance coverage, residing out of town, and higher SNOT-22 scores.Total OOPEs incurred from the treatment of CRS may amount to CAD $607.10 [U.S. $614.06] per patient per year, within the context of a single-payer health care system. Managing clinicians should be aware of patient groups with a greater perceived financial burden and consider counseling them on strategies to offset expenses, including obtaining travel grants, using telemedicine for follow-up assessments, providing drug samples, and streamlining diagnostic testing with medical visits.
| S-EPMC5498318 | biostudies-literature
Project description:BackgroundCongenital lung malformations (CLMs) are being detected more frequently during pregnancy. There is controversy regarding the optimal treatment for an asymptomatic child with prenatally diagnosed CLMs. Due to the paucity of information from clinical trials, we developed decision analytic models to compare two treatment strategies for such patients-elective surgical resection versus expectant management.MethodsWe built decision analytic models stratified by lesion size. We used data from English language literature identified through PubMed searches along with estimates from expert opinions of surgical colleagues. We analyzed results for two hypothetical asymptomatic 6-month-old children with CLMs; one has a large lesion occupying more than 50% of the involved lobe, while the other has a small lesion occupying less than 50% of the involved lobe. We used quality-adjusted life years (QALYs) to measure effectiveness.ResultsFor an asymptomatic child with a small or large lesion, expectant management resulted in a small gain of 0.09 or 0.15 QALYs, respectively. Sensitivity analyses showed that surgical resection would be preferred if the probability of remaining asymptomatic was low.ConclusionsIn contrast to current practice, expectant management may be a better alternative for asymptomatic children born with CLMs. More longitudinal studies are required to improve the accuracy of the model.
| S-EPMC10092826 | biostudies-literature
Project description:Congenital limb malformations (CLMs) are common and present to a variety of specialties, notably plastic and orthopaedic surgeons, and clinical geneticists. The authors aimed to characterise causative mutations in an unselected cohort of patients with CLMs requiring reconstructive surgery.202 patients presenting with CLM were recruited. The authors obtained G-banded karyotypes and screened EN1, GLI3, HAND2, HOXD13, ROR2, SALL1, SALL4, ZRS of SHH, SPRY4, TBX5, TWIST1 and WNT7A for point mutations using denaturing high performance liquid chromatography (DHPLC) and direct sequencing. Multiplex ligation dependent probe amplification (MLPA) kits were developed and used to measure copy number in GLI3, HOXD13, ROR2, SALL1, SALL4, TBX5 and the ZRS of SHH.Within the cohort, causative genetic alterations were identified in 23 patients (11%): mutations in GLI3 (n = 5), HOXD13 (n = 5), the ZRS of SHH (n = 4), and chromosome abnormalities (n = 4) were the most common lesions found. Clinical features that predicted the discovery of a genetic cause included a bilateral malformation, positive family history, and having increasing numbers of limbs affected (all p<0.01). Additionally, specific patterns of malformation predicted mutations in specific genes.Based on higher mutation prevalence the authors propose that GLI3, HOXD13 and the ZRS of SHH should be prioritised for introduction into molecular genetic testing programmes for CLM. The authors have developed simple criteria that can refine the selection of patients by surgeons for referral to clinical geneticists. The cohort also represents an excellent resource to test for mutations in novel candidate genes.
| S-EPMC2764122 | biostudies-literature
Project description:ObjectiveTo examine temporal trends of OOP expenses, total payments, facility fees, and professional fees for outpatient surgery.Summary background dataApproximately 48 million outpatient surgeries are performed annually with a limited financial understanding of these procedures. High OOP expenses may influence treatment decisions, delay care, and cause financial burden for patients.MethodsWe conducted a retrospective cohort study of patients with employer-sponsored insurance undergoing common outpatient surgical procedures (cholecystectomy, cataract surgery, meniscectomy, muscle/tendon procedures, and joint procedures) from 2011 to 2017. Total payments for surgical encounters paid by the insurer/employer and patient OOP expenses were calculated. We used multivariable linear regression to predict total payments and OOP expenses, with costs adjusted to the 2017 US dollar.ResultsWe evaluated 5,261,295 outpatient surgeries (2011-2017). Total payments increased by 29%, with a 53% increase in facility fees and no change in professional fees. OOP expenses grew by 50%. After controlling for procedure type, procedures performed in ambulatory surgery centers conferred an additional $2019 in predicted total payments (95%CI:$2002-$2036) and $324 in OOP expenses (95%CI:$319-$328) compared to predicted cost for office-based procedures. Hospital-based procedures cost an additional $2649 in predicted total payments (95%CI:$2632-$2667) and $302 in predicted OOP expenses (95%CI:$297-$306) compared to office procedures.ConclusionIncreases in outpatient surgery total payments were driven primarily by facility fees and OOP expenses. OOP expenses are rising faster than total payments, highlighting the transition of costs to patients. Healthcare cost reduction policies should consider the largest areas of spending growth such as facility fees and OOP expenses to minimize the financial burden placed on patients.
| S-EPMC8015353 | biostudies-literature
Project description:BackgroundEstimating and evaluating the economic burden of HF and its impact on the public healthcare system is necessary for devising improved treatment plans in the future. The present study aimed to determine the economic impact of HF on the public healthcare system.MethodThe annual cost of HF per patient was estimated using unweighted average and inverse probability weighting (IPW). Unweight average estimated the annual cost by considering all observed cases regardless of the availability of all the cost data, while IPW calculated the cost by weighting against inverse probability. The economic burden of HF was estimated for different HF phenotypes and age categories at the population level from the public healthcare system perspective.ResultsThe mean (standard deviation) annual costs per patient calculated using unweighted average and IPW were USD 5,123 (USD 3,262) and USD 5,217 (USD 3,317), respectively. The cost of HF estimated using two different approaches did not differ significantly (p = 0.865). The estimated cost burden of HF in Malaysia was USD 481.9 million (range: USD 31.7 million- 1,213.2 million) per year, which accounts for 1.05% (range: 0.07%-2.66%) of total health expenditure in 2021. The cost of managing patients with heart failure with reduced ejection fraction (HFrEF) accounted for 61.1% of the total financial burden of HF in Malaysia. The annual cost burden increased from USD 2.8 million for patients aged 20-29 to USD 142.1 million for those aged 60-69. The cost of managing HF in patients aged 50-79 years contributed 74.1% of the total financial burden of HF in Malaysia.ConclusionA large portion of the financial burden of HF in Malaysia is driven by inpatient costs and HFrEF patients. Long-term survival of HF patients leads to an increase in the prevalence of HF, inevitably increasing the financial burden of HF.
| S-EPMC10321615 | biostudies-literature
Project description:ObjectiveNumerous studies established a link between socioeconomic status (SES) and several dimensions of general health. This study examines the association between maternal education as a widely used indicator of SES and outcome in newborns requiring surgical correction of congenital anomalies.MethodsAmbispective data analysis of newborns with esophageal atresia (EA), intestinal atresia (IA), congenital diaphragmatic hernia (CDH), omphalocele (OC), gastroschisis (GS) undergoing surgery between 01/2008-11/2017 accessing the clinical databases Neodat and Viewpoint. Maternal education was determined according to the validated education classification CASMIN and stratified into "low" SES and "high" SES group. Endpoints were incidence of postoperative complications, length of mechanical ventilation, and readmission to NICU.ResultsInclusion of 169 patients with EA (n = 32), IA (n = 24), CDH (n = 47), OC (n = 19), GS (n = 47). Women of low SES (n = 67, 40%) attended fewer prenatal screenings (total, 4.6 vs. 7.9, P<0.0001; EA, 3.7 vs. 7.1, P = 0.0002; IA, 3.5 vs. 9.4, P = 0.0006; OC, 2.5 vs. 8.8, P = 0.009; GS, 4.1 vs. 7.0, P = 0.002). Low SES was associated with higher incidence of patients born small for gestational age (37% vs. 20%, P = 0.019), with additional congenital malformations (37% vs. 15%, P = 0.001), being born in a peripheral center (7% vs. 0%, P = 0.008), and with higher incidence of 5´APGAR scores <7 (23% vs. 7%, P = 0.004). Moreover, low SES was associated with higher incidence of postoperative complications (total 70% vs. 32%, P<0.0001; EA, 60% vs. 23%, P = 0.04; IA, 67% vs. 11%, P = 0.008; CDH, 83% vs. 46%, P = 0.009; GS, 74% vs. 25%, P = 0.001), and higher readmission rate to NICU (IA, 33% vs. 0%, P = 0.043; GS, 32% vs. 4%, P = 0.007).ConclusionsLow maternal education is associated with a reduced uptake of prenatal screenings, adverse neonatal outcomes, and higher incidence of postoperative complications in newborns with congenital anomalies. Primary prevention and specific support should be provided prenatally for families with low SES to avoid adverse outcomes.
| S-EPMC6453467 | biostudies-literature
Project description: Not available
| S-EPMC1283495 | biostudies-literature
Project description:Congenital cardiovascular malformations are the most common birth defects, with a complex multifactorial etiology. Genetic factors play an important role, illuminated by numerous cytogenetically visible abnormalities, as well as submicroscopic genomic imbalances affecting critical genomic regions in the affected individuals. Study of rare families with Mendelian forms, as well as emerging next-generation sequencing technologies have uncovered a multitude of genes relevant for human congenital cardiac diseases. It is clear that the complex embryology of human cardiac development, with an orchestrated interplay of transcription factors, chromatin regulators, and signal transduction pathway molecules can be easily perturbed by genomic imbalances affecting dosage-sensitive regions. This review focuses on chromosomal abnormalities contributing to congenital heart diseases and underscores several genomic disorders linked to human cardiac malformations in the last few decades.
| S-EPMC4906429 | biostudies-literature
Project description:ObjectiveTo examine the teratogenic potential of statins.DesignCohort study.SettingUnited States.ParticipantsA cohort of 886,996 completed pregnancies linked to liveborn infants of women enrolled in Medicaid from 2000 to 2007.MethodsWe examined the risk of major congenital malformations and organ specific malformations in offspring associated with maternal use of a statin in the first trimester. Propensity score based methods were used to control for potential confounders, including maternal demographic characteristics, obstetric and medical conditions, and use of other drugs.Results1152 (0.13%) women used a statin during the first trimester. In unadjusted analyses, the prevalence of malformations in the offspring of these women was 6.34% compared with 3.55% in those of women who did not use a statin in the first trimester (relative risk 1.79, 95% confidence interval 1.43 to 2.23). Controlling for confounders, particularly pre-existing diabetes, accounted for this increase in risk (1.07, 0.85 to 1.37). There were also no statistically significant increases in any of the organ specific malformations assessed after accounting for confounders. Results were similar across a range of sensitivity analyses.ConclusionsOur analysis did not find a significant teratogenic effect from maternal use of statins in the first trimester. However, these findings need to be replicated in other large studies, and the long term effects of in utero exposure to statins needs to be assessed, before use of statins in pregnancy can be considered safe.
| S-EPMC4362473 | biostudies-literature