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1.
Orphanet J Rare Dis ; 18(1): 379, 2023 Dec 04.
Artigo em Inglês | MEDLINE | ID: mdl-38049864

RESUMO

BACKGROUND: For a variety of reasons, raising a child with 22q11.2DS has significant psychosocial and financial repercussions for the family caregivers. Our aim was to identify and explain the expectations and concerns of Polish parents of 22q11.2DS children. An online survey was developed consisting of four sections: demographics, emotions experienced by caregivers while performing their duties, attitudes of the respondents about providing care, and finally different aspects of the caregivers' life satisfaction. The study was conducted with the support of the Polish 22q11 Association. RESULTS: Forty-four caregivers of Polish origin completed the survey, all but one of whom were mothers. Thirty-four per cent (n = 15/44) declared full-time employment. According to 73% (n = 32/44) of those surveyed, the child's disease has not harmed their relationship with the partner. In spite of the fact that the median diagnosis time was 1.9 years (ranging from 0 to 12 years), the caregivers indicated that they had contacted on average 3.9 doctors before obtaining the right diagnosis (range 1-17). The Internet was the main source of information and knowledge about their child's disease for 93% of respondents (n = 41/44), while for 54% (n = 24/44) it was the association for people with 22q11DS. Only 26% rated as very good or good the support for caregivers offered by the central and local government or its agendas. The physicians' knowledge about 22q11DS was positively rated by 14% of respondents (n = 6/44). The most frequently chosen source of support for 66% of respondents (n = 29/44) turned out to be their families, and for 34% - a Facebook support group (n = 15/44). Asked how often they rated their quality of life (QoL) highly, none of our respondents chose the option "always", although 64% (28/44) gave the answer "often". CONCLUSION: Our study is the first one in Poland to develop an online survey specifically for use with caregivers of paediatric patients with 22q11.2DS. Our respondents revealed that caring for 22q11.2 children entails a burden that extends far beyond clinical facets and has a significant impact on every dimension of the caregivers' lives, including their mental health, everyday activities, families, professional career and social lives. At the same time, caregivers are de facto left alone with the bureaucracy of the healthcare system.


Assuntos
Síndrome de DiGeorge , Feminino , Criança , Humanos , Síndrome de DiGeorge/diagnóstico , Qualidade de Vida , Pais/psicologia , Mães , Cuidadores/psicologia
2.
J Med Econ ; 26(1): 1469-1478, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37916295

RESUMO

AIMS: This study aimed to evaluate the value and affordability of insulin glargine 300 U/mL (Gla-300) in a budget impact model from a United States (U.S.) payer perspective by leveraging recent real-world evidence (RWE) studies and incorporating the recent insulin price caps where applicable. MATERIALS AND METHODS: An economic model for a hypothetical one million U.S. health-plan population was developed to assess the budgetary impact of therapeutic interchanges in either direction between the two long- and longer-acting basal insulins (BIs) for patients with type 2 diabetes over a three-year model horizon. The utilization of long-acting BIs, longer-acting BIs, biosimilar BIs, and insulin degludec (IDeg-100) were informed by IQVIA data and internal forecasting at Sanofi. The DELIVER-2 and DELIVER-naïve studies provided healthcare resource utilization (HCRU) parameters. In the model base case, 24% of patients switched from long-acting BIs to insulin glargine biosimilars, IDeg-100, and other longer-acting BIs (Gla-300) by projected year 3. RESULTS: The base case total costs were $10,145 per patient per year (PPPY) in year 3 for the cumulative population. When all patients switched to Gla-300, the total costs in year 3 were $8,799, reflecting a net savings of -$660 PPPY compared to the budget increase of $686 PPPY in the base case. However, the longer-acting to long-acting BIs reversal scenario demonstrated a budgetary decrease of $676 PPPY over the model horizon. The reduction in incremental PPPY cost of $93 was observed using net drug costs rather than wholesale acquisition costs (WAC). LIMITATIONS: The market shares for years 1-3 were based on expectations supported by the clinicians' expert opinions and were not obtained from real-world data. CONCLUSIONS: The economic value of increased utilization of Gla-300 was driven by the reduction in HCRU, costs and market shares assumptions. Budgetary reductions were achieved by switching patients from long-acting BIs to Gla-300.


Type 2 Diabetes (T2D) is a chronic and debilitating condition that can lead to severe macro or microvascular complications. To mitigate these complications, it is crucial to effectively manage blood glucose levels. When other treatments prove ineffective in achieving adequate glucose control, insulin-based therapy becomes necessary. However, insulin-based treatments often come with the risk of hypoglycemic episodes, which can lead to increased utilization of healthcare resources (HCRU) and have a negative impact on costs.This study aimed to assess the budgetary impact of higher market shares of longer-acting basal insulins (specifically insulin glargine Gla-300) compared to long-acting basal insulins, insulin glargine biosimilars, and insulin degludec (IDeg) in the treatment of T2D. The perspective taken was that of a U.S. payer, taking into account the recent insulin price caps where applicable.The economic benefit of increased utilization of Gla-300 was driven by reductions in HCRU, costs, and market share assumptions. This resulted in a budgetary increase of $686 per patient per year (PPPY). In an alternative scenario where all patients transitioned to Gla-300, it led to a net savings of $660 PPPY.These findings provide valuable insights for decision-makers and healthcare professionals when making choices related to formulary placement and treatment utilization.


Assuntos
Medicamentos Biossimilares , Diabetes Mellitus Tipo 2 , Humanos , Estados Unidos , Insulina Glargina/uso terapêutico , Diabetes Mellitus Tipo 2/tratamento farmacológico , Medicamentos Biossimilares/uso terapêutico , Insulina , Modelos Econômicos , Hipoglicemiantes/uso terapêutico
3.
Artigo em Inglês | MEDLINE | ID: mdl-37985206

RESUMO

BACKGROUND: The placebo effect observed in clinical trials evaluating medical treatments for chronic rhinosinusitis (CRS) is not well understood. This systematic review and meta-analysis sought to characterize the placebo effect present within CRS outcomes. METHODS: A systematic review of PubMed, Scopus, and Cumulated Index in Nursing and Allied Health Nursing (CINAHL) was performed. Randomized controlled trials (RCTs) evaluating medical treatments for CRS versus placebo were included. We assessed patient-reported (sino-nasal outcome test 22 [SNOT-22], nasal obstruction, sense of smell, nasal obstruction visual analogue score [VAS], sense of smell VAS, anterior rhinorrhea, and postnasal drip) and objective (Lund-Mackay Computed tomography (CT) score, peak nasal inspiratory flow [PNIF], nasal polyp scores, 40-item Smell Identification Test, serum IgE, and blood eosinophil levels) outcomes. RESULTS: Twenty-one RCTs were included, comprising 1437 patients (mean age 49.2 years). Biologics were the most common treatment investigated (n = 9). Eleven studies administered background steroids along with placebo. Following placebo administration, multiple patient-reported outcomes significantly decreased, including SNOT-22 (mean difference -9.49, 95% confidence interval [CI] [-11.26, -7.73]), nasal obstruction (-0.33 [-0.54, -0.13]), sense of smell (-0.22 [-0.33, -0.11]), nasal obstruction VAS (-2.47 [-2.87, -2.06]), and loss of smell VAS (-2.31 [-4.14, -0.47]) scores. For objective measures, significant changes occurred in Lund-Mackay CT score (-0.82, [-1.48, -0.16]) and PNIF (4.70, [4.76, 24.64]) with placebo. Placebo arms had the greatest impact when no background medications were used. CONCLUSIONS: Placebo treatments have a statistically and potentially clinically significant effect on patient-reported and some objective CRS outcomes. Further investigation is required to fully understand placebo effect, which could improve assessment of RCTs and impact patient care.

4.
Orphanet J Rare Dis ; 17(1): 67, 2022 02 21.
Artigo em Inglês | MEDLINE | ID: mdl-35189940

RESUMO

BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is a rare disease with an important characteristic-clinical heterogeneity. The diversity of organs, regions, and systems of the body that can be affected requires periodic updating of health professionals so that they can recognize these clinical signs as belonging to 22q11.2DS. Updated professionals are equally important for the appropriate and timely clinical management of individuals with a positive diagnosis. In this context, this article aimed to map and analyze the access to healthcare for individuals with 22q11.2DS until the moment of diagnosis. RESULTS: We analyzed the clinical data of 111 individuals with 22q11.2DS registered in the Brazilian Database on Craniofacial Anomalies (BDCA) from 2008 to 2020. In this study, individuals were diagnosed at a median age of 9 years (mean = 9.7 years). Before the genetic investigation, they accessed 68.75% of the internationally recommended evaluations available at BDCA. Recurrent 22q11.2DS clinical manifestations such as delayed neuropsychomotor development, lip and/or palate defects, cardiac malformation and/or hematological/immunological alteration co-occurred in at least 72.06% of individuals. Cardiac malformation was the only clinical alteration that lowered the median diagnostic age, corresponding to 6.5 years of age with a cardiac malformation versus 11 years of age without one (p = 0.0006). CONCLUSIONS: In Brazil, 22q11.2 DS is under-recognized, and early diagnosis and management of affected individuals are still a distant reality. In this sense, 22q11.2 DS suspicion followed by the elimination of obstacles for its diagnosis confirmation is essential to increase life expectancy and improve the quality of life of these individuals in Brazil.


Assuntos
Síndrome de DiGeorge , Cardiopatias Congênitas , Brasil , Criança , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/genética , Cardiopatias Congênitas/genética , Humanos , Qualidade de Vida
5.
Bone Joint J ; 104-B(2): 265-273, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35094577

RESUMO

AIMS: To determine the value of scoliosis surgery, it is necessary to evaluate outcomes in domains that matter to patients. Since randomized trials on adolescent idiopathic scoliosis (AIS) are scarce, prospective cohort studies with comparable outcome measures are important. To enhance comparison, a core set of patient-related outcome measures is available. The aim of this study was to evaluate the outcomes of AIS fusion surgery at two-year follow-up using the core outcomes set. METHODS: AIS patients were systematically enrolled in an institutional registry. In all, 144 AIS patients aged ≤ 25 years undergoing primary surgery (median age 15 years (interquartile range 14 to 17) were included. Patient-reported (condition-specific and health-related quality of life (QoL); functional status; back and leg pain intensity) and clinician-reported outcomes (complications, revision surgery) were recorded. Changes in patient-reported outcome measures (PROMs) were analyzed using Friedman's analysis of variance. Clinical relevancy was determined using minimally important changes (Scoliosis Research Society (SRS)-22r), cut-off values for relevant effect on functioning (pain scores) and a patient-acceptable symptom state (PASS; Oswestry Disability Index). RESULTS: At baseline, 65 out of 144 patients (45%) reported numerical rating scale (NRS) back pain scores > 5. All PROMs significantly improved at two-year follow-up. Mean improvements in SRS-22r function (+ 1.2 (SD 0.6)), pain (+ 0.6 (SD 0.8)), and self-image (+ 1.1 (SD 0.7)) domain scores, and the SRS-22r total score (+ 0.5 (SD 0.5)), were clinically relevant. At two-year follow-up, 14 out of 144 patients (10%) reported NRS back pain > 5. Surgical site infections did not occur. Only one patient (0.7%) underwent revision surgery. CONCLUSION: Relevant improvement in functioning, condition-specific and health-related QoL, self-image, and a relevant decrease in pain is shown at two-year follow-up after fusion surgery for AIS, with few adverse events. Contrary to the general perception that AIS is a largely asymptomatic condition, nearly half of patients report significant preoperative back pain, which reduced to 10% at two-year follow-up. Cite this article: Bone Joint J 2022;104-B(2):265-273.


Assuntos
Medidas de Resultados Relatados pelo Paciente , Qualidade de Vida , Escoliose/cirurgia , Fusão Vertebral , Adolescente , Feminino , Seguimentos , Humanos , Masculino , Dor Musculoesquelética/etiologia , Qualidade de Vida/psicologia , Recuperação de Função Fisiológica , Sistema de Registros , Estudos Retrospectivos , Escoliose/complicações , Escoliose/psicologia , Autoimagem , Fusão Vertebral/psicologia , Resultado do Tratamento
6.
J Med Econ ; 24(1): 962-971, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34324414

RESUMO

AIMS: Congenital athymia is an ultra-rare pediatric condition characterized by the lack of thymus in utero and the naïve T cells critical for infection defense and immune regulation. Patients with congenital athymia receive supportive care to minimize and treat infections, autoimmune phenomena, and autologous graft-versus-host disease (aGVHD) manifestations, but historically, die within the first 3 years of life with supportive care only. We estimated the healthcare resource utilization and economic burden of supportive care over patients' first 3 years of life in the United States. METHODS: A medical chart audit by the treating physician was used to collect patient data from birth to age 3 on clinical manifestations associated with congenital athymia (clinical manifestations due to underlying syndromic conditions excluded). Using costs and charges from publicly available sources, the total economic burden of direct medical costs and charges for the first 3 years of life (considered "lifetime" for patients receiving supportive care) and differences in economic burden between patients with higher and lower inpatient hospitalization durations were estimated. RESULTS: All patients (n = 10) experienced frequent infections and aGVHD manifestations; 40% experienced ≥1 episode of sepsis, and 20% had recurrent sepsis episodes annually. The estimated mean 3-year economic burden per patient was US$5,534,121 (2020 US dollars). The annual mean inpatient hospitalization duration was 150.6 days. Inpatient room charges accounted for 79% of the economic burden, reflecting the high costs of specialized care settings required to prevent infection, including isolation. Patients with high inpatient utilization (n = 5; annual mean inpatient hospitalization duration, 289.6 days) had an estimated 3-year economic burden of US$9,926,229. LIMITATIONS: The total economic burden may not be adequately represented due to underestimation of some direct costs or overestimation of others. CONCLUSIONS: Current treatment of patients with congenital athymia (supportive care) presents a high economic burden to the healthcare system.


Assuntos
Efeitos Psicossociais da Doença , Hospitalização , Criança , Pré-Escolar , Custos de Cuidados de Saúde , Humanos , Aceitação pelo Paciente de Cuidados de Saúde , Estados Unidos
7.
J Med Econ ; 24(1): 432-439, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33663311

RESUMO

BACKGROUND: Limited information is available on the utilization and healthcare costs among patients with acromegaly. The purpose of this study was to assess the impact of acromegaly on healthcare utilization and costs by locations of care (LoC). METHODS: Patients with acromegaly and controls were identified from an analysis of drug and medical claims filed from January 2010 to April 2019 from a US employer database. Each patient with acromegaly was matched with 20 random controls (without acromegaly) selected from the database. Claims were tracked for 12 months postdiagnosis (or matched date for controls). Outcomes by LoC, including costs, services, and likelihood of use, were compared using two-stage regression models or logistic regression models, controlling for demographic and job-related variables, and Charlson comorbidity index scores. RESULTS: Claims from 60 patients with acromegaly and 1,200 controls were analyzed. Compared with the control group, patients with acromegaly had significantly higher likelihoods of receiving care in a physician's office [odds ratio > 1,000], inpatient [OR = 8.010], outpatient [OR = 12.656], laboratory [OR = 3.681], and 'other' locations [OR = 4.033] (all p < .001), except in an emergency department (ED). Significantly more services were performed at each LoC for those with acromegaly (p < .01) but not in an ED. Total costs were more than 5-fold higher for the acromegaly cohort compared with controls (p < .05). Costs by LoC were consistently higher (p < .001) for patients with acromegaly vs. controls, with mean annual cost differences greatest in outpatient hospital/clinic ($9,611 vs $1,355), inpatient ($8,646 vs $739), physicians' office ($4,762 vs $1,301), other ($2,001 vs $367), and laboratory ($508 vs $66). ED-related treatment costs were not significantly different between cohorts. CONCLUSIONS: Compared with matched controls, patients with acromegaly were more likely to utilize healthcare services in nearly all LoCs and accrue higher expenditures at each LoC, with the exception of ED services.


Assuntos
Acromegalia , Acromegalia/terapia , Utilização de Instalações e Serviços , Custos de Cuidados de Saúde , Humanos , Aceitação pelo Paciente de Cuidados de Saúde , Estudos Retrospectivos , Estados Unidos
8.
J Appl Res Intellect Disabil ; 33(6): 1534-1540, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32407568

RESUMO

BACKGROUND: Many individuals with intellectual disabilities and their caregivers struggle to provide accurate and complete information to healthcare providers. METHOD: The present authors provided personal medical information cards (PMICs) containing contact and medical information to 52 Canadian adults with 22q11.2 deletion syndrome, a genetic condition associated with intellectual disability. The authors invited them and/or their caregivers to complete a user satisfaction survey concerning usage of the card. RESULTS: Forty-eight (92%) patients or their caregivers completed the survey. Twenty-two (46%) respondents used the PMIC over a median of 8 months during encounters with doctors and other professionals, and a majority of these used it more than once. Users reported finding the PMIC "very helpful" (86%) or "helpful" (14%), providing necessary information, speeding up interactions with professionals and helping avoid repeat storytelling. CONCLUSION: Providing a PMIC to individuals with intellectual disabilities and their caregivers could help improve patient safety and assist in advocacy.


Assuntos
Síndrome de DiGeorge , Deficiência Intelectual , Adulto , Canadá , Comunicação , Pessoal de Saúde , Humanos
9.
J Med Econ ; 23(9): 915-922, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32432950

RESUMO

AIM: Prescription drug prices in the United States are considered rather extreme. Americans spend over $460 billion on drugs annually, or almost 17 percent of total national healthcare spending. How innovation incentives and insurance coverage drive pricing, diffusion, and utilization of drugs, under conditions of risk and competition, are multi-dimensional issues in medical economics that remain under-explored in the current empirical literature. We seek to address these issues in reviewing relevant studies presented at the 2020 AEA-ASSA annual convention. APPROACH: Drawn from the 2020 convention panel sessions devoted to health economics, empirical evidence was thematically analyzed for charted new research terrains and trajectories. Their theoretical and practical implications on efficiency, effectiveness, and value in drug production and consumption were then identified. FINDINGS: With certain qualifications, evidence confirms price inelasticity of prescription drugs and medical treatments, along with substitution effects from high or continuously rising prices. While health insurance induces ex ante moral hazard, albeit on a larger scale than previously considered, losing dependent coverage can incentivize price-substitution to risky and illegal drugs, including those sold on the black market. At the firm level, drug patenting and exclusivity rights suggest that innovation incentives increase new or novel clinical trials and generic utilization to a considerable extent. But innovation can produce strong, offsetting effects. It can distort competition and cause (at times sharp) price increases from product-hopping, (compensatory) list pricing, industry mergers and acquisitions, and capture of positive spillovers by competitors, rather than by focal developers, in follow-on innovations. In fine, there remains room for opportunism among firms, particularly market incumbents, and many loopholes are unplugged by U.S. healthcare reform. These make drug utilization costly to the insured, and risky to those who are - or become - uninsured or underinsured for various reasons. CONCLUSIONS: The fundamental disconnect between innovation cost and drug pricing demands public attention and policy intervention, which have proved largely elusive to date. Gaming the system in the name of scientific invention and discovery to reap additional benefits, at the expense of consumer health and income, brings to question the offsetting benefits of firm innovation. It also raises separate issues of fairness and equity. Innovation needs to be considered from the perspective of value lines and beyond conventional marketing incentives to drug utilization, with or without insurance coverage. Cost-effectiveness and cost-benefit analyses figure prominently under a value-based system of resource allocation, insurance, medical prescription, purchasing, and reimbursement.


Assuntos
Farmacoeconomia , Cobertura do Seguro/economia , Seguro de Serviços Farmacêuticos/economia , Medicamentos sob Prescrição/economia , Análise Custo-Benefício , Custos e Análise de Custo/economia , Uso de Medicamentos/economia , Medicamentos Genéricos/economia , Competição Econômica/economia , Alocação de Recursos para a Atenção à Saúde , Humanos , Invenções/economia , Estados Unidos
10.
Ir J Med Sci ; 189(3): 761-769, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31802373

RESUMO

BACKGROUND: Individuals with the rare genetic disorder, 22q11.2 deletion syndrome (22q11.2ds), face particular challenges with transition from paediatric to adult health services due to complex physical and mental health care needs, often further complicated by intellectual disability (ID). To date, the lived experience of these young people navigating this complex journey has not been well researched. AIM: The project sought to understand the lived experiences of young women with 22q11.2ds transitioning from child to adult health services and to elicit recommendations for improvement. METHODS: Following ethical approval, six female participants, aged 19-35 years, were recruited through the family support organisation 22q11 Ireland. Adhering to participatory action research (PAR) principles, four full day sessions using creative research methodologies were conducted over a 4-month period. RESULTS: Participants reported significant difficulties navigating transition between and within clinical services, and reported a lack of information transfer between healthcare services which required multiple retelling of their story. They expressed a low sense of confidence in new healthcare providers and reported ambivalence regarding their own agency and ability to manage clinical appointments without family or 'keyworker' support. Participants co-designed a patient-clinician communication tool to assist in information transfer and to capture salient features of any healthcare consultation. CONCLUSIONS: There is a recognised need to strengthen transition pathways. This is especially true in this at risk group, given the poorer outcomes associated with transitions in youth with ID along with the additive effect of medical and mental health and learning difficulties that often co-occur in 22q11.2ds. A patient-clinician communication tool, designed by participants, offers a pragmatic approach to optimise healthcare transitions, support continuity of healthcare and personal autonomy.


Assuntos
Síndrome de DiGeorge/psicologia , Transferência de Pacientes/métodos , Adulto , Comunicação , Feminino , Humanos , Masculino , Relações Médico-Paciente , Transição para Assistência do Adulto , Adulto Jovem
11.
J Med Econ ; 22(8): 736-741, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30915883

RESUMO

Objectives: There is a lack of data in Panama on the potential differences in total healthcare professional (HCP) time between routine administrations of short-acting erythropoietin simulating agents (ESAs) (i.e. epoetin alfa) and continuous erythropoietin receptor activator (CERA) (i.e. methoxy polyethylene glycol-epoetin beta). This study aimed to quantify the HCP time associated with a single administration of epoetin alfa and CERA for the treatment of anemic patients with chronic kidney disease (CKD) on hemodialysis. Methods: This was a multi-center, cross-sectional study, using a time-and-motion methodology. Costs related to HCP time and consumables usage associated with administration of epoetin alfa and CERA were estimated. Results: Based on 60 administrations of either CERA or epoetin alfa, the estimated savings in mean total active HCP time were 2.34 (95% confidence interval = 1.87-2.81) min (-30%) per administration. When extrapolating to a full year's treatment with intravenous ESA, it would require a total of 20.3 (95% CI = 19.90-20.71) h of HCP time for epoetin alfa vs 1.1 (95% CI = 1.01-1.19) h for CERA per patient per year. Estimated savings in active HCP time per patient per year were 19.20 (95% CI = 19.20-19.21) h (-95%). This, in turn, translates into staff cost efficiency that favors Mircera with an estimated annual saving of $78.24 (95% CI = 78.24-78.28) (-95%) per patient. Conclusions: Data from a real-world setting showed that the adoption of CERA could potentially lead to a reduction in active HCP time. Highlights Few comparative data have explored the costs and potential savings of using long-acting erythropoietin-stimulating agents (ESA) instead of short-acting ESAs to treat anemia in CKD patients on hemodialysis. This time-and-motion study shows that use of CERA reduces total healthcare professional time and could represent a save for an institution in a real-world setting in Panama.


Assuntos
Epoetina alfa/economia , Eritropoetina/economia , Pessoal de Saúde/economia , Hematínicos/economia , Polietilenoglicóis/economia , Anemia/tratamento farmacológico , Anemia/etiologia , Estudos Transversais , Custos de Medicamentos , Epoetina alfa/administração & dosagem , Eritropoetina/administração & dosagem , Feminino , Pessoal de Saúde/estatística & dados numéricos , Hematínicos/administração & dosagem , Humanos , Masculino , Panamá , Polietilenoglicóis/administração & dosagem , Diálise Renal/efeitos adversos , Insuficiência Renal Crônica/terapia , Fatores de Tempo
12.
Mol Genet Genomic Med ; 5(6): 631-638, 2017 11.
Artigo em Inglês | MEDLINE | ID: mdl-29178641

RESUMO

BACKGROUND: The 22q11.2 deletion syndrome is a variably expressed disorder that can include cardiac, palate, and other physical abnormalities, immunodeficiency, and hypocalcemia. Because of the extreme variability in phenotype, there has been no available estimate of the total medical expenditure associated with the average case. METHODS: We have developed a model to estimate the cost from the time of diagnosis to age 20. Costs were based on patients seen at a specialty center but also considered those components of care expected to have been provided by external healthcare facilities. Expense was based on billed medical charges extracted from the electronic medical billing system for all patients with a diagnosis of DiGeorge or velocardiofacial syndrome from 1993-2015. Expenditures included maternal prenatal care directly related to an affected pregnancy, molecular/cytogenetic diagnosis, consultations, surgery, and/or other treatment and management. Most mental health services (except inpatient), therapy related to cognitive, behavioral, speech, pharmacy, and nonmedical costs (special education, vocational, respite, lost earnings) were not included. RESULTS: Data were available for 642 patients with 50.7% diagnosed prenatally or in the first year of life. The average cost for a patient was $727,178. Costs were highest for patients ascertained prenatally ($2,599,955) or in the first year of life ($1,043,096), those with cardiac abnormalities or referred for cardiac evaluation ($751,535), and patients with low T-cell counts ($1,382,222). CONCLUSION: This study demonstrates that there are significant medical costs associated with 22q11.2 deletion syndrome.


Assuntos
Cromossomos Humanos Par 22 , Síndrome de DiGeorge/economia , Custos de Cuidados de Saúde , Deleção Cromossômica , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/genética , Humanos , Modelos Teóricos
13.
J Child Health Care ; 21(2): 142-152, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29119811

RESUMO

22q11 deletion syndrome (22q11DS) is a genetic syndrome, prevalence around 1:4000-1:6000 live births, with a complex array of associated features, impacting on healthcare and educational support. This study reports the perceptions of families and individuals with 22q11DS in relation to these needs. Individuals and families of those with 22q11DS were approached though two national charities - the Max Appeal and 22Crew. An initial observational survey design was used to gather views via questions probing access to healthcare and educational experiences. Thirty-four responses were received and the data subjected to descriptive analysis. Over half of the respondents were diagnosed before the age of 1. Ninety-one percent reported ongoing difficulties with learning at school, compounded by school attendance being compromised as a result of medical interventions. Individuals reported engaging heavily with educational support and a high number of health professions (mean 9.5; mode 10). Age of diagnosis of 22q11DS ranged from birth to nine years. Families had ongoing concerns about aspects of education and healthcare services, and lack of knowledge and awareness of the difficulties faced by individuals with 22q11DS was raised. Healthcare and education providers should be aware of the range of services individuals required on a regular basis so as to provide a more holistic approach to care.


Assuntos
Síndrome da Deleção 22q11/psicologia , Atenção à Saúde/métodos , Pais/educação , Pais/psicologia , Síndrome da Deleção 22q11/genética , Adolescente , Criança , Feminino , Humanos , Deficiências da Aprendizagem/psicologia , Reino Unido
14.
Germs ; 6(1): 14-20, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27019828

RESUMO

BACKGROUND: Healthcare workers constitute a population at high risk for HBV infection. Efficient vaccination options are available; however, the individual response to HBV vaccination may vary widely between subjects, potentially due to cytokine profiles and genetic variations. In the present study, we investigated the relationship between IL-17 and IL-22 gene polymorphisms versus non- and low-responsiveness to HBV vaccination in healthcare workers. METHODS: We selected the following IL-17 and IL-22 polymorphisms: rs4711998 (A/G) from IL-17 and rs2227501 (A/T), rs2227503 (A/G), rs1026786 (A/G) from IL-22 sequences genes. These were determined by polymerase chain reaction restriction fragment length polymorphisms. RESULTS: The IL-17 rs4711998 GG genotype had a significantly lower frequency in non-responders compared to low-responders (p=0.025). However, we did not identify a relationship between IL-22 rs1026780, rs2227501 and rs2227503 genotypes and the anti-HBs response following HBV vaccination. CONCLUSION: These data suggest that genetic variation in rs4711998 polymorphisms in the IL-17 cytokine may influence vaccine-induced immune responses to HBV vaccine in healthcare workers.

15.
J Hosp Infect ; 92(2): 183-90, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26778134

RESUMO

BACKGROUND: Two meticillin-resistant Staphylococcus aureus (MRSA) clones, sequence type (ST) 22 and ST239, have successfully spread globally. Across Australia, ST22 has supplanted ST239 as the main healthcare-associated MRSA. To understand the reasons underlying this shift, the epidemiology and clinical features of infections due to ST22 and ST239 MRSA isolates from a tertiary hospital in Melbourne, Australia were compared. METHODS: Over six months, consecutive MRSA isolates with clinical data were collected from specimens referred to Alfred Health Pathology (AHP). Isolates were genotyped by a multi-locus-sequence-typing-based high-resolution melting method. FINDINGS: Three hundred and twenty-eight of 1079 (30%) S. aureus isolated by AHP were MRSA. Of these, 313 were genotyped; 78 (25%) were clonal complex (CC) 22 (representing ST22) and 142 (45%) were CC239 (representing ST239). Common clinical syndromes included skin or soft tissue, respiratory tract and osteo-articular infections. On multi-variate logistic regression, compared with CC239, CC22 was associated with older patients [adjusted odds ratio (aOR) 1.04 for each year increase, 95% confidence interval (CI) 1.02-1.07)], and patients from subacute hospitals (aOR 2.7, 95% CI 1.2-5.8) or long-term care facilities (LTCFs; aOR 5.5, 95% CI 2.0-14.5). Median time from patient admission to MRSA isolation was nine days for CC239 and one day for CC22 (P < 0.01). MRSA strain epidemiology varied according to hospital unit. CONCLUSIONS: CC22 and CC239 MRSA have differing ecological niches. CC22 is associated with elderly patients in LTCFs, and CC239 is associated with nosocomial acquisition. Infection control strategies involving LTCFs and their residents will likely be required to achieve continued MRSA control.


Assuntos
Infecção Hospitalar/epidemiologia , Infecção Hospitalar/microbiologia , Genótipo , Staphylococcus aureus Resistente à Meticilina/classificação , Staphylococcus aureus Resistente à Meticilina/isolamento & purificação , Infecções Estafilocócicas/epidemiologia , Infecções Estafilocócicas/microbiologia , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Austrália/epidemiologia , Infecção Hospitalar/patologia , Ecossistema , Feminino , Humanos , Controle de Infecções , Masculino , Staphylococcus aureus Resistente à Meticilina/genética , Pessoa de Meia-Idade , Tipagem de Sequências Multilocus , Infecções Estafilocócicas/patologia , Staphylococcus aureus , Centros de Atenção Terciária
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