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1.
Eur J Public Health ; 34(1): 181-189, 2024 Feb 05.
Artículo en Inglés | MEDLINE | ID: mdl-37889597

RESUMEN

BACKGROUND: A pre-existing, well-established European influenza surveillance network known as I-MOVE enabled the rapid implementation of a European multi-country COVID-19 hospital surveillance network for surveillance of hospitalized COVID-19 cases in early 2020. This network included 257 hospitals in 11 surveillance sites across nine countries. We aimed to identify whether the surveillance objectives were relevant to public health actions, whether the surveillance system met its objectives, where and how shortcomings could be improved, and whether the system was sustainable. METHODS: We identified six key attributes (meeting objectives, usefulness, timeliness, data quality, simplicity and sustainability) to assess, using Centers for Disease Control and Prevention's evaluation framework. We analyzed pooled datasets, held interviews and group discussions with 10 participating and coordinating sites and gathered feedback through web surveys. RESULTS: There was overall agreement that the surveillance objectives had been met and being involved in a network of European partners had additional important benefits for stakeholders. While the publication of the outputs was not always sufficiently timely, data submission processes were considered straightforward and the key surveillance variables (age, sex, hospital admission and mortality data) were complete. The main challenges were identified as the collection of the large number of variables, limited available human resources and information governance and data protection laws. CONCLUSIONS: I-MOVE-COVID-19 delivered relevant and accurate data supporting the development and implementation of COVID-19 surveillance. Recommendations presented here identify learning opportunities to support preparedness and surveillance response for future pandemics. The applied evaluation framework in this study can be adapted for other European surveillance system evaluations.


Asunto(s)
COVID-19 , Gripe Humana , Humanos , COVID-19/epidemiología , Europa (Continente)/epidemiología , Salud Pública , Gripe Humana/epidemiología , Pandemias
2.
Genet Med ; 25(2): 100330, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-36445366

RESUMEN

Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is an X-linked condition caused by pathogenic variants in the iduronate-2-sulfatase gene. The resulting reduced activity of the enzyme iduronate-2-sulfatase leads to accumulation of glycosaminoglycans that can progressively affect multiple organ systems and impair neurologic development. In 2006, the US Food and Drug Administration approved idursulfase for intravenous enzyme replacement therapy for MPS II. After the data suggesting that early treatment is beneficial became available, 2 states, Illinois and Missouri, implemented MPS II newborn screening. Following a recommendation of the Advisory Committee on Heritable Disorders in Newborns and Children in February 2022, in August 2022, the US Secretary of Health and Human Services added MPS II to the Recommended Uniform Screening Panel, a list of conditions recommended for newborn screening. MPS II was added to the Recommended Uniform Screening Panel after a systematic evidence review reported the accuracy of screening, the benefit of presymptomatic treatment compared with usual case detection, and the feasibility of implementing MPS II newborn screening. This manuscript summarizes the findings of the evidence review that informed the Advisory Committee's decision.


Asunto(s)
Iduronato Sulfatasa , Mucopolisacaridosis II , Niño , Humanos , Recién Nacido , Estados Unidos , Mucopolisacaridosis II/diagnóstico , Mucopolisacaridosis II/genética , Tamizaje Neonatal , Ácido Idurónico , Iduronato Sulfatasa/uso terapéutico , Glicosaminoglicanos , Terapia de Reemplazo Enzimático/métodos
3.
Genet Med ; 23(4): 758-766, 2021 04.
Artículo en Inglés | MEDLINE | ID: mdl-33281187

RESUMEN

PURPOSE: To estimate health and economic outcomes associated with newborn screening (NBS) for infantile-onset Pompe disease in the United States. METHODS: A decision analytic microsimulation model simulated health and economic outcomes of a birth cohort of 4 million children in the United States. Universal NBS and treatment was compared with clinical identification and treatment of infantile-onset Pompe disease. Main outcomes were projected cases identified, costs, quality-adjusted life-years (QALYs), and incremental cost-effectiveness ratios (ICERs) over the life course. RESULTS: Universal NBS for Pompe disease and confirmatory testing was estimated to cost an additional $26 million annually. Additional medication costs associated with earlier treatment initiation were $181 million; however, $8 million in medical care costs for other services were averted due to delayed disease progression. Infants with screened and treated infantile-onset Pompe disease experienced an average lifetime increase of 11.66 QALYs compared with clinical detection. The ICER was $379,000/QALY from a societal perspective and $408,000/QALY from the health-care perspective. Results were sensitive to the cost of enzyme replacement therapy. CONCLUSION: Newborn screening for Pompe disease results in substantial health gains for individuals with infantile-onset Pompe disease, but with additional costs.


Asunto(s)
Enfermedad del Almacenamiento de Glucógeno Tipo II , Niño , Análisis Costo-Beneficio , Terapia de Reemplazo Enzimático , Enfermedad del Almacenamiento de Glucógeno Tipo II/diagnóstico , Enfermedad del Almacenamiento de Glucógeno Tipo II/epidemiología , Enfermedad del Almacenamiento de Glucógeno Tipo II/genética , Humanos , Lactante , Recién Nacido , Tamizaje Neonatal , Años de Vida Ajustados por Calidad de Vida , Estados Unidos/epidemiología
4.
Ann Intern Med ; 170(6): 380-388, 2019 03 19.
Artículo en Inglés | MEDLINE | ID: mdl-30776797

RESUMEN

Background: The U.S. Advisory Committee on Immunization Practices recently developed recommendations for use of a new recombinant zoster vaccine (RZV). Objective: To evaluate the cost-effectiveness of vaccination with RZV compared with zoster vaccine live (ZVL) and no vaccination, the cost-effectiveness of vaccination with RZV for persons who have previously received ZVL, and the cost-effectiveness of preferential vaccination with RZV over ZVL. Design: Simulation (state-transition) model using U.S. epidemiologic, clinical, and cost data. Data Sources: Published data. Target Population: Hypothetical cohort of immunocompetent U.S. adults aged 50 years or older. Time Horizon: Lifetime. Perspective: Societal and health care sector. Intervention: Vaccination with RZV (recommended 2-dose regimen), vaccination with ZVL, and no vaccination. Outcome Measures: The primary outcome measure was the incremental cost-effectiveness ratio (ICER). Results of Base-Case Analysis: For vaccination with RZV compared with no vaccination, ICERs ranged by age from $10 000 to $47 000 per quality-adjusted life-year (QALY), using a societal perspective and assuming 100% completion of the 2-dose RZV regimen. For persons aged 60 years or older, ICERs were less than $60 000 per QALY. Vaccination with ZVL was dominated by vaccination with RZV for all age groups 60 years or older. Results of Sensitivity Analysis: Results were most sensitive to changes in vaccine effectiveness, duration of protection, herpes zoster incidence, and probability of postherpetic neuralgia. Vaccination with RZV after previous administration of ZVL yielded an ICER of less than $60 000 per QALY for persons aged 60 years or older. In probabilistic sensitivity analyses, RZV remained the preferred strategy in at least 95% of simulations, including those with 50% completion of the second dose. Limitation: Few data were available on risk for serious adverse events, adherence to the recommended 2-dose regimen, and probability of recurrent zoster. Conclusion: Vaccination with RZV yields cost-effectiveness ratios lower than those for many recommended adult vaccines, including ZVL. Results are robust over a wide range of plausible values. Primary Funding Source: Centers for Disease Control and Prevention.


Asunto(s)
Vacuna contra el Herpes Zóster/economía , Herpes Zóster/prevención & control , Neuralgia Posherpética/prevención & control , Vacunación/economía , Anciano , Anciano de 80 o más Años , Análisis Costo-Beneficio , Diseño de Investigaciones Epidemiológicas , Política de Salud , Vacuna contra el Herpes Zóster/efectos adversos , Humanos , Cumplimiento de la Medicación , Persona de Mediana Edad , Guías de Práctica Clínica como Asunto , Años de Vida Ajustados por Calidad de Vida , Prevención Secundaria , Sensibilidad y Especificidad , Vacunación/efectos adversos , Vacunas Sintéticas/efectos adversos , Vacunas Sintéticas/economía
5.
BMC Public Health ; 18(1): 998, 2018 08 09.
Artículo en Inglés | MEDLINE | ID: mdl-30092782

RESUMEN

BACKGROUND: High sodium diets with inadequate potassium and high sodium-to-potassium ratios are a known determinant of hypertension and cardiovascular disease (CVD). The Caribbean island of Barbados has a high prevalence of hypertension and mortality from CVD. Our objectives were to estimate sodium and potassium excretion, to compare estimated levels with recommended intakes and to identify the main food sources of sodium in Barbadian adults. METHODS: A sub-sample (n = 364; 25-64 years) was randomly selected from the representative population-based Health of the Nation cross-sectional study (n = 1234), in 2012-13. A single 24-h urine sample was collected from each participant, following a strictly applied protocol designed to reject incomplete samples, for the measurement of sodium and potassium excretion (in mg), which were used as proxy estimates of dietary intake. In addition, sensitivity analyses based on estimated completeness of urine collection from urine creatinine values were undertaken. Multiple linear regression was used to examine differences in sodium and potassium excretion, and the sodium-to-potassium ratio, by age, sex and educational level. Two 24-h recalls were used to identify the main dietary sources of sodium. All analyses were weighted for the survey design. RESULTS: Mean sodium excretion was 2656 (2488-2824) mg/day, with 67% (62-73%) exceeding the World Health Organization (WHO) recommended limit of 2000 mg/d. Mean potassium excretion was 1469 (1395-1542) mg/d; < 0.5% met recommended minimum intake levels. Mean sodium-to-potassium ratio was 2.0 (1.9-2.1); not one participant had a ratio that met WHO recommendations. Higher potassium intake and lower sodium-to-potassium ratio were independently associated with age and tertiary education. Sensitivity analyses based on urine creatinine values did not notably alter these findings. CONCLUSIONS: In this first nationally representative study with objective assessment of sodium and potassium excretion in a Caribbean population in over 20 years, levels of sodium intake were high, and potassium intake was low. Younger age and lower educational level were associated with the highest sodium-to-potassium ratios. These findings provide baseline values for planning future policy interventions for non-communicable disease prevention.


Asunto(s)
Población Negra/estadística & datos numéricos , Enfermedades Cardiovasculares/epidemiología , Dieta/estadística & datos numéricos , Potasio/orina , Sodio/orina , Adulto , Barbados/epidemiología , Enfermedades Cardiovasculares/etnología , Enfermedades Cardiovasculares/orina , Estudios Transversales , Dieta/efectos adversos , Encuestas sobre Dietas , Femenino , Humanos , Masculino , Persona de Mediana Edad , Potasio/análisis , Prevalencia , Sodio en la Dieta/análisis
6.
BMC Public Health ; 18(1): 648, 2018 05 22.
Artículo en Inglés | MEDLINE | ID: mdl-29788951

RESUMEN

BACKGROUND: We describe hospital-based management of acute ischaemic stroke patients in 2010-2013 in Barbados, by comparing documented treatment given in the single tertiary public hospital with international guideline recommendations. METHODS: Evidence-based stroke management guidelines were identified through a systematic literature search. Comparisons were made between these guidelines and documented diagnostic practice (all strokes) and prescribed medication (ischaemic stroke only), using a combination of key informant interviews and national stroke registry data for 2010-2013. RESULTS: Several published international guidelines for the acute management of ischaemic stroke recommended patient management in a dedicated stroke unit or nearest hospital specialised in stroke care. Further, patients should receive clinical diagnosis, CT brain scan, specialist evaluation by a multidisciplinary team and, if eligible, thrombolysis with alteplase within 3-3.5 h of symptom onset. Subsequent secondary prophylaxis, with a platelet aggregation inhibitor and a statin was advised. Barbados had no stroke unit or stroke team, and no official protocol for acute stroke management during the study period. Most of the 1735 stroke patients were managed by emergency physicians at presentation; if admitted, they were managed on general medical wards. Most had a CT scan (1646; 94.9%). Of 1406 registered ischaemic stroke patients, only 6 (0.4%) had been thrombolysed, 521 (37.1%) received aspirin within 24 h of admission and 670 (47.7%) were prescribed aspirin on discharge. CONCLUSIONS: Acute ischaemic stroke diagnosis was consistent with international recommendations, although this was less evident for treatment. While acknowledging the difficulty in implementing international guidelines in a low-resource setting, there is scope for improvement in acute ischaemic stroke management and/or its documentation in Barbados. A stroke unit was established in August 2013 and written clinical protocols for acute stroke care were in development at the time of the study; future registry data will evaluate their impact. Our findings have implications for other low-resource settings with high stroke burden.


Asunto(s)
Isquemia Encefálica/terapia , Adhesión a Directriz/estadística & datos numéricos , Guías de Práctica Clínica como Asunto , Accidente Cerebrovascular/terapia , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Barbados , Femenino , Hospitales Públicos , Humanos , Masculino , Persona de Mediana Edad , Centros de Atención Terciaria , Adulto Joven
7.
Health Promot Pract ; 19(2): 295-302, 2018 03.
Artículo en Inglés | MEDLINE | ID: mdl-28766380

RESUMEN

In the transition from adolescence to young adulthood, overall diet quality decreases, including a reduction in both dairy and calcium consumption. The objective of this pilot study was to determine the impact of milk vending on milk and calcium intakes in college students. Participants were 124 college students living in dorms at a large public university (Fall 2012). Milk vending machines were installed in two campus dorms. Before and 2 months after installation, students were surveyed about milk and calcium intakes, as well as attitudes regarding milk vending. Sales data for the newly installed machines were also collected between the pre- and posttest surveys. Students reported similar milk and calcium consumption before and after the intervention. Mean calcium intakes were lower than the recommended dietary allowance for students in either life stage group (18 years old or 19 years and older). Milk vending sales data showed that during the study period, approximately nine bottles of milk were bought each day from the two dorms combined. Results from this study suggest that milk vending alone may not be an effective strategy for preventing the commonly observed decrease in milk and calcium intakes among college students.


Asunto(s)
Calcio/administración & dosificación , Dieta Saludable , Distribuidores Automáticos de Alimentos , Leche , Estudiantes , Universidades , Adolescente , Animales , Comercio/estadística & datos numéricos , Femenino , Promoción de la Salud , Humanos , Masculino , Evaluación de Programas y Proyectos de Salud , Adulto Joven
9.
Rev Panam Salud Publica ; 39(2): 76-85, 2016 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-27754515

RESUMEN

Objective To describe the surveillance model used to develop the first national, population-based, multiple noncommunicable disease (NCD) registry in the Caribbean (one of the first of its kind worldwide); registry implementation; lessons learned; and incidence and mortality rates from the first years of operation. Methods Driven by limited national resources, this initiative of the Barbados Ministry of Health (MoH), in collaboration with The University of the West Indies, was designed to collect prospective data on incident stroke and acute myocardial infarction (MI) (heart attack) cases from all health care facilities in this small island developing state (SIDS) in the Eastern Caribbean. Emphasis is on tertiary and emergency health care data sources. Incident cancer cases are obtained retrospectively, primarily from laboratories. Deaths are collected from the national death register. Results Phased introduction of the Barbados National Registry for Chronic NCDs ("the BNR") began with the stroke component ("BNR-Stroke," 2008), followed by the acute MI component ("BNR-Heart," 2009) and the cancer component ("BNR-Cancer," 2010). Expected case numbers projected from prior studies estimated an average of 378 first-ever stroke, 900 stroke, and 372 acute MI patients annually, and registry data showed an annual average of about 238, 593, and 349 patients respectively. There were 1 204 tumors registered in 2008, versus the expected 1 395. Registry data were used to identify public health training themes. Success required building support from local health care professionals and creating island-wide registry awareness. With spending of approximately US$ 148 per event for 2 200 events per year, the program costs the MoH about US$ 1 per capita annually. Conclusions Given the limited absolute health resources available to SIDS, combined surveillance should be considered for building a national NCD evidence base. With prevalence expected to increase further worldwide, Barbados' experiences are offered as a "road map" for other limited-resource countries considering national NCD surveillance.


Asunto(s)
Países en Desarrollo/estadística & datos numéricos , Infarto del Miocardio/epidemiología , Enfermedades no Transmisibles/epidemiología , Vigilancia de la Población , Accidente Cerebrovascular/epidemiología , Barbados/epidemiología , Humanos , Hallazgos Incidentales , Neoplasias/epidemiología , Estudios Prospectivos
10.
Cancer Control ; 22(4): 520-30, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-26678981

RESUMEN

BACKGROUND: Few national registries exist in the Caribbean, resulting in limited cancer statistics being available for the region. Therefore, estimates are frequently based on the extrapolation of mortality data submitted to the World Health Organization. Thus, regional cancer surveillance and research need promoting, and their synergy must be strengthened. However, differences between countries outweigh similarities, hampering registration and availability of data. METHODS: The African-Caribbean Cancer Consortium (AC3) is a broad-based resource for education, training, and research on all aspects of cancer in populations of African descent. The AC3 focuses on capacity building in cancer registration in the Caribbean through special topics, training sessions, and biannual meetings. We review the results from selected AC3 workshops, including an inventory of established cancer registries in the Caribbean region, current cancer surveillance statistics, and a review of data quality. We then describe the potential for cancer research surveillance activities and the role of policymakers. RESULTS: Twelve of 30 Caribbean nations have cancer registries. Four of these nations provide high-quality incidence data, thus covering 14.4% of the population; therefore, regional estimates are challenging. Existing research and registry collaborations must pave the way and are facilitated by organizations like the AC3. CONCLUSIONS: Improved coverage for cancer registrations could help advance health policy through targeted research. Capacity building, resource optimization, collaboration, and communication between cancer surveillance and research teams are key to obtaining robust and complete data in the Caribbean.


Asunto(s)
Neoplasias/epidemiología , Región del Caribe/epidemiología , Conducta Cooperativa , Humanos , Sistema de Registros
11.
Pediatrics ; 153(6)2024 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-38699802

RESUMEN

OBJECTIVES: To identify the most important attributes related to the process of achieving, and outcomes associated with, successful care for differences of sex development (DSD). METHODS: We developed a best-worst scaling survey administered to 520 DSD stakeholders, including individuals or family members of those with DSD, health care specialists, and patient support and advocacy representatives. Fourteen process-related attributes and 16 outcome-related attributes were identified through qualitative research. We estimated relative importance scores and coefficients from regression analysis to understand the relative importance of attributes and conducted latent class analysis to explore heterogeneity in preferences. RESULTS: The 3 most important process attributes were (1) good communication between care team and patient/family, (2) care team educated patient/family about condition, and (3) care team incorporates the values of patient/family. The 3 most important outcome attributes were (1) patient satisfaction, (2) patient mental health, and (3) treatment maintains physical health. Latent class analyses showed that respondents had heterogeneous preferences. For process-related attributes, we identified 3 respondent groups: "Patient autonomy and support" (46% of respondents), "Education and care transitions" (18%), and "Shared decision-making" (36%). For outcome-related attributes, we identified 2 respondent groups: "Preserving function and appearance" (59% of respondents) and "Patient health and satisfaction" (41%). CONCLUSIONS: Outcomes such as patient satisfaction and health were the most important outcome attributes, and good communication and education from the care team were the most important process attributes. Respondents expressed heterogeneous preferences for selected DSD care attributes that providers should consider to improve satisfaction with and quality of DSD care.


Asunto(s)
Trastornos del Desarrollo Sexual , Prioridad del Paciente , Humanos , Trastornos del Desarrollo Sexual/terapia , Trastornos del Desarrollo Sexual/psicología , Femenino , Masculino , Niño , Adolescente , Satisfacción del Paciente , Adulto , Grupo de Atención al Paciente , Preescolar
12.
Influenza Other Respir Viruses ; 18(2): e13255, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38403302

RESUMEN

We conducted a multicentre hospital-based test-negative case-control study to measure vaccine effectiveness (VE) against PCR-confirmed influenza in adult patients with severe acute respiratory infection (SARI) during the 2022/2023 influenza season in Europe. Among 5547 SARI patients ≥18 years, 2963 (53%) were vaccinated against influenza. Overall VE against influenza A(H1N1)pdm09 was 11% (95% CI: -23-36); 20% (95% CI: -4-39) against A(H3N2) and 56% (95% CI: 22-75) against B. During the 2022/2023 season, while VE against hospitalisation with influenza B was >55%, it was ≤20% for influenza A subtypes. While influenza vaccination should be a priority for future seasons, improved vaccines against influenza are needed.


Asunto(s)
Subtipo H1N1 del Virus de la Influenza A , Vacunas contra la Influenza , Gripe Humana , Neumonía , Adulto , Humanos , Gripe Humana/epidemiología , Gripe Humana/prevención & control , Estaciones del Año , Subtipo H1N1 del Virus de la Influenza A/genética , Subtipo H3N2 del Virus de la Influenza A/genética , Estudios de Casos y Controles , Eficacia de las Vacunas , Europa (Continente)/epidemiología , Hospitalización , Hospitales , Vacunación
13.
JAMA Netw Open ; 6(1): e2253582, 2023 01 03.
Artículo en Inglés | MEDLINE | ID: mdl-36716030

RESUMEN

Importance: COVID-19 vaccination rates in the US remain below optimal levels. Patient preferences for different attributes of vaccine products and the vaccination experience can be important in determining vaccine uptake decisions. Objective: To assess preferences for attributes of adult and pediatric COVID-19 vaccination among US adults. Design, Setting, and Participants: An online survey of a national panel of 1040 US adults was conducted in May and June 2021. A discrete choice analysis was used to measure the relative value of each attribute in the decision to choose a COVID-19 vaccination option for adults or children. Six attributes were used to described hypothetical vaccination options: vaccine effectiveness, mild side effects, rare adverse events, number of doses, time required for vaccination, and regulatory approval. Respondents chose between hypothetical vaccination profiles or no vaccination. Additional survey questions asked about vaccination beliefs, COVID-19 illness experience, COVID-19 risk factors, vaccination status, and opinions about the risk of COVID-19. Exposures: Respondents chose which vaccine profile they would prefer to receive for themselves (or no vaccination). Respondents then considered an identical set of profiles for a hypothetical child aged 0 to 17 years. Main Outcomes and Measures: Relative value of vaccination-related attributes were estimated using Bayesian logit regression. Preference profiles for subgroups were estimated using latent class analyses. Results: A total of 1040 adults (610 [59%] female; 379 participants [36%] with an age of 55 years and older years) responded to the survey. When asked about vaccination choices for themselves, participants indicated that vaccine effectiveness (95% vs 60%) was a significant attribute (ß, 9.59 [95% CrI, 9.20-10.00] vs ß, 0.41 [95% CrI, 0-0.80]). Respondents also preferred fewer rare adverse events (ß, 6.35 [95% CrI, 5.74-6.86), fewer mild side effects (ß, 5.49; 95% CrI, 5.12-5.87), 1 dose (ß, 5.41; 95% CrI, 5.04-5.78), FDA approval (ß, 6.01; 95% CrI, 5.64-6.41), and shorter waiting times (ß, 5.67; 95% CrI, 4.87-6.48). Results were very similar when framing the question as adult or child vaccination, with slightly stronger preference for fewer rare adverse events for children. Latent class analysis revealed 4 groups of respondents: (1) individuals sensitive to safety and regulatory status, (2) individuals sensitive to convenience, (3) individuals who carefully considered all attributes in making their choices, and (4) individuals who rejected the vaccine. Conclusions and Relevance: In this survey study of US adults, the identification of 4 distinct preference groups provides new information to guide communications to support vaccine decision making. In particular, the group that prioritize convenience (less time required for vaccination and fewer doses) may present an opportunity to create actionable strategies to increase vaccination uptake for both adult and pediatric populations.


Asunto(s)
COVID-19 , Vacunas , Adulto , Humanos , Niño , Femenino , Masculino , Vacunas contra la COVID-19/uso terapéutico , Teorema de Bayes , COVID-19/epidemiología , COVID-19/prevención & control , Vacunación
14.
Pediatrics ; 152(2)2023 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-37465909

RESUMEN

Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder of creatine biosynthesis due to pathogenic variants in the GAMT gene that lead to cerebral creatine deficiency and neurotoxic levels of guanidinoacetate. Untreated, GAMT deficiency is associated with hypotonia, significant intellectual disability, limited speech development, recurrent seizures, behavior problems, and involuntary movements. The birth prevalence of GAMT deficiency is likely between 0.5 and 2 per million live births. On the basis of small case series and sibling data, presymptomatic treatment with oral supplements of creatine, ornithine, and sodium benzoate, and a protein-restricted diet to reduce arginine intake, appear to substantially improve health and developmental outcomes. Without newborn screening, diagnosis typically happens after the development of significant impairment, when treatment has limited utility. GAMT deficiency newborn screening can be incorporated into the tandem-mass spectrometry screening that is already routinely used for newborn screening, with about 1 per 100 000 newborns screening positive. After a positive screen, diagnosis is established by finding an elevated guanidinoacetate concentration and low creatine concentration in the blood. Although GAMT deficiency is significantly more rare than other conditions included in newborn screening, the feasibility of screening, the low number of positive results, the relative ease of diagnosis, and the expected benefit of presymptomatic dietary therapy led to a recommendation from the Advisory Committee on Heritable Disorders in Newborns and Children to the Secretary of Health and Human Services that GAMT deficiency be added to the Recommended Uniform Screening Panel. This recommendation was accepted in January 2023.


Asunto(s)
Trastornos del Desarrollo del Lenguaje , Trastornos del Movimiento , Niño , Humanos , Recién Nacido , Guanidinoacetato N-Metiltransferasa/genética , Creatina , Tamizaje Neonatal/métodos , Trastornos del Desarrollo del Lenguaje/diagnóstico , Trastornos del Movimiento/diagnóstico , Trastornos del Movimiento/genética , Trastornos del Movimiento/terapia
15.
Children (Basel) ; 8(5)2021 May 12.
Artículo en Inglés | MEDLINE | ID: mdl-34065950

RESUMEN

The objective of this study was to evaluate the cost-effectiveness of newborn screening and treatment for phenylketonuria (PKU) in the context of new data on adherence to recommended diet treatment and a newly available drug treatment (sapropterin dihydrochloride). A computer simulation model was developed to project outcomes for a hypothetical cohort of newborns with PKU. Four strategies were compared: (1) clinical identification (CI) with diet treatment; (2) newborn screening (NBS) with diet treatment; (3) CI with diet and medication (sapropterin dihydrochloride); and (4) NBS with diet and medication. Data sources included published literature, primary data, and expert opinion. From a societal perspective, newborn screening with diet treatment had an incremental cost-effectiveness ratio of $6400/QALY compared to clinical identification with diet treatment. Adding medication to NBS with diet treatment resulted in an incremental cost-effectiveness ratio of more than $16,000,000/QALY. Uncertainty analyses did not substantially alter the cost-effectiveness results. Newborn screening for PKU with diet treatment yields a cost-effectiveness ratio lower than many other recommended childhood prevention programs even if adherence is lower than previously assumed. Adding medication yields cost-effectiveness results unlikely to be considered favorable. Future research should consider conditions under which sapropterin dihydrochloride would be more economically attractive.

16.
J Nutr Sci ; 10: e29, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34094510

RESUMEN

Our objective was to describe, for the first time in an English-speaking Caribbean country, the contribution of ultra-processed foods (UPFs) to nutrients linked to non-communicable disease. Using a cross-sectional study design, dietary data were collected from two non-consecutive 24-h dietary recalls. Recorded food items were then classified according to their degree of processing by the NOVA system. The present study took place in Barbados (2012-13). A representative population-based sample of 364 adult Barbadians (161 males and 203 females) aged 25-64 years participated in the study. UPFs represented 40⋅5 % (838 kcal/d; 95 % CI 791, 885) of mean energy intake. Sugar-sweetened beverages made the largest contribution to energy within the UPF category. Younger persons (25-44 years) consumed a significantly higher proportion of calories from UPF (NOVA group 4) compared with older persons (45-64 years). The mean energy shares of UPF ranged from 22⋅0 to 58⋅9 % for those in the lowest tertile to highest tertile. Within each tertile, the energy contribution was significantly higher in the younger age group (25-44 years) compared with the older (45-64 years). One-quarter of persons consume ≥50 % of their daily calories from UPF, this being significantly higher in younger persons. The ultra-processed diet fraction contained about six times the mean of free sugars and about 0⋅8 times the dietary fibre of the non-ultra-processed fraction (NOVA groups 1-3). Targeted interventions to decrease the consumption of UPF especially in younger persons is thus of high priority to improve the diet quality of Barbadians.


Asunto(s)
Dieta , Comida Rápida , Adulto , Barbados , Estudios Transversales , Ingestión de Energía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedades no Transmisibles/epidemiología , Bebidas Azucaradas
17.
Artículo en Inglés | MEDLINE | ID: mdl-34400464

RESUMEN

INTRODUCTION: Body mass index (BMI) and waist circumference (WC) cut-offs associated with hyperglycemia may differ by ethnicity. We investigated the optimal BMI and WC cut-offs for identifying hyperglycemia in the predominantly Afro-Caribbean population of Barbados. RESEARCH DESIGN AND METHODS: A cross-sectional study of 865 individuals aged ≥25 years without known diabetes or cardiovascular disease was conducted. Hyperglycemia was defined as fasting plasma glucose ≥5.6 mmol/L or hemoglobin A1c ≥5.7% (39 mmol/mol). The Youden index was used to identify the optimal cut-offs from the receiver operating characteristic (ROC) curves. Further ROC analysis and multivariable log binomial regression were used to compare standard and data-derived cut-offs. RESULTS: The prevalence of hyperglycemia was 58.9% (95% CI 54.7% to 63.0%). In women, optimal BMI and WC cut-offs (27 kg/m2 and 87 cm, respectively) performed similarly to standard cut-offs. In men, sensitivities of the optimal cut-offs of BMI ≥24 kg/m2 (72.0%) and WC ≥86 cm (74.0%) were higher than those for standard BMI and WC obesity cut-offs (30.0% and 25%-46%, respectively), although with lower specificity. Hyperglycemia was 70% higher in men above the data-derived WC cut-off (prevalence ratio 95% CI 1.2 to 2.3). CONCLUSIONS: While BMI and WC cut-offs in Afro-Caribbean women approximate international standards, our findings, consistent with other studies, suggest lowering cut-offs in men may be warranted to improve detection of hyperglycemia. Our findings do, however, require replication in a new data set.


Asunto(s)
Etnicidad , Hiperglucemia , Barbados , Estudios Transversales , Femenino , Humanos , Hiperglucemia/diagnóstico , Hiperglucemia/epidemiología , Masculino , Factores de Riesgo
18.
Food Sci Nutr ; 8(3): 1335-1344, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32180943

RESUMEN

The Caribbean island of Barbados has a high burden of diabetes and cardiovascular disease. Dietary habits were last described in 2005. A representative population-based sample (n = 363, aged 25-64 years) provided two nonconsecutive 24-hr dietary recalls in this cross-sectional study. Mean daily nutrient intakes were compared with the Dietary Guidelines for Americans. Subgroup differences by age, sex, and educational level were examined using logistic regression. High sugar intakes exist for both sexes with 24% (95% CIs 18.9, 30.0) consuming less than the recommended <10% of energy from added sugars (men 22%; 15.0, 31.6; women 26%; 18.9, 33.7). Sugar-sweetened beverages provide 43% (42.2%, 44.4%) of total sugar intake. Inadequate dietary fiber intakes (men 21 g, 18.2, 22.8; women 18 g, 16.7, 18.9) exist across all age groups. Inadequate micronutrient intake was found in women for calcium, folate, thiamine, zinc, and iron. Older persons (aged 45-64 years) were more likely to report adequacy of dietary fiber (OR = 2.7, 1.5, 4.8) and iron (OR = 3.0, 1.7, 5.3) than younger persons (aged 25-44). Older persons (aged 45-64 years) were less likely to have an adequate supply of riboflavin (OR = 0.4, 0.2, 0.6) than younger persons. Men were more likely to have adequate intakes of iron (OR = 13.0, 6.1, 28.2), folate (OR = 2.4, 1.3, 4.6), and thiamine (OR = 3.0, 1.5, 5.0) than women. Education was not associated with nutrient intake. The Barbadian diet is characterized by high sugar intakes and inadequate dietary fiber; a nutrient profile associated with an increased risk of obesity, type 2 diabetes, and related noncommunicable diseases.

19.
Pain ; 161(2): 361-368, 2020 02.
Artículo en Inglés | MEDLINE | ID: mdl-31599852

RESUMEN

Our objective was to develop comprehensive national estimates of the total burden of herpes zoster (HZ) among U.S. adults, including direct (ie, medical costs) and indirect (ie, productivity losses) costs, as well as its psychosocial impact (ie, quality of life losses). Using a patient-level microsimulation model, we projected health and economic outcomes among U.S. adults aged 18 years and older using a 10-year time horizon. We conducted a comprehensive systematic literature review to generate parameter values and conducted simulation modeling to generate our outcomes, including numbers of cases of uncomplicated HZ, postherpetic neuralgia (PHN), and ocular complications, productivity losses, and losses in quality-adjusted life years (QALYs). We used a societal perspective for outcomes; the costing year was 2015. Projected outcomes for an unvaccinated population included 1.1 million HZ cases, 114,000 PHN cases, and 43,000 ocular complications annually, resulting in approximately 67,000 QALYs lost. HZ and its complications would incur costs of $2.4 billion in direct medical costs and productivity losses annually. Projected QALY losses were most sensitive to HZ and PHN health utility values in the model. Cost estimates were most sensitive to the probability of HZ and to the costs per episode of PHN. The national burden of direct, indirect, and psychosocial HZ costs is substantial. Our results can inform economic analyses for HZ vaccines. Comprehensive, national assessments of the total burden of other painful conditions would be very informative.


Asunto(s)
Eficiencia , Costos de la Atención en Salud , Herpes Zóster/economía , Neuralgia Posherpética/economía , Calidad de Vida , Años de Vida Ajustados por Calidad de Vida , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Simulación por Computador , Femenino , Herpes Zóster/epidemiología , Herpes Zóster/fisiopatología , Herpes Zóster/prevención & control , Herpes Zóster Oftálmico/economía , Herpes Zóster Oftálmico/epidemiología , Herpes Zóster Oftálmico/fisiopatología , Herpes Zóster Oftálmico/prevención & control , Vacuna contra el Herpes Zóster/economía , Humanos , Masculino , Persona de Mediana Edad , Neuralgia Posherpética/epidemiología , Neuralgia Posherpética/fisiopatología , Neuralgia Posherpética/prevención & control , Estados Unidos , Adulto Joven
20.
Surg Obes Relat Dis ; 16(6): 738-744, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-32205098

RESUMEN

BACKGROUND: Increased attention to shared decision-making is particularly important in bariatric surgery. It is unclear whether the large shift toward sleeve gastrectomy is evidence of good alignment between patient and surgeon preferences. OBJECTIVE: To identify surgeon preferences for risks, benefits, and other attributes of treatment options available for bariatric surgery and to compare results with patient preferences. SETTING: Online survey. METHODS: A discrete choice experiment of weight loss procedures. Each procedure was described by the following set of attributes: (1) treatment method, (2) recovery and reversibility, (3) years treatment has been available, (4) expected weight loss, (5) effect on other medical conditions, (6) risk of complication, (7) side effects, (8) changes to diet, (9) out-of-pocket costs. Participants chose between surgical profiles by comparing attributes. A convenience sample of providers for the online survey was recruited via LISTSERVs of professional associations. RESULTS: Respondents (n = 121) were most likely to select profiles of hypothetical procedures based on the resolution of existing medical conditions and higher expected weight loss. These results align with patient preferences. However, surgeons selected profiles based on lower risk of complications than did patients and surgeons were less sensitive to out-of-pocket costs than patients. CONCLUSIONS: Results show strong alignment between the preferences of patients and the preferences of surgeons when they are asked to stand in the place of their patients. Some differences, especially those related to sensitivity to risk of complications and out-of-pocket costs indicate that shared decision-making would benefit from providers explaining their concerns about surgical risk and from appreciating the concern many patients have about financial costs.


Asunto(s)
Cirugía Bariátrica , Cirujanos , Humanos , Prioridad del Paciente , Encuestas y Cuestionarios , Pérdida de Peso
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