The Cost-Effectiveness of Congenital Adrenal Hyperplasia Newborn Screening in Brazil: A Comparison Between Screened and Unscreened Cohorts.

Background: Newborn screening for congenital adrenal hyperplasia (CAH-NBS) is not yet a worldwide consensus, in part due to inconclusive evidence regarding cost-effectiveness because the analysis requires an understanding of the short- and long-term costs of care associated with delayed diagnosis. Objective: The present study aimed to conduct a cost-effectiveness analysis (CEA) to compare the costs associated with CAH-NBS and clinical diagnosis. Methods: A decision model comparing the two strategies was tested by sensitivity analysis. The cost analysis perspective was the public health system. Unscreened patients' data were extracted from medical records of Hospital das Clinicas, Saõ Paulo, and screened data were extracted from the NBS Referral Center of São Paulo. The population comprised 195 classical patients with CAH, clinically diagnosed and confirmed by hormonal/CYP21A2 analysis, and 378,790 newborns screened during 2017. Adverse outcomes related to late diagnosis were measured in both cohorts, and the incremental cost-effectiveness ratio (ICER) was calculated. We hypothesized that CAH-NBS would be cost-effective. Results: Twenty-five screened infants were confirmed with CAH (incidence: 1:15,135). The mortality rate was estimated to be 11% in unscreened infants, and no deaths were reported in the screened cohort. Comparing the unscreened and screened cohorts, mean serum sodium levels were 121.2 mEq/L (118.3-124.1) and 131.8 mEq/L (129.3-134.5), mean ages at diagnosis were 38.8 and 17 days, and hospitalization occurred in 76% and 58% of the salt-wasting patients with the in the two cohorts, respectively. The NBS incremental cost was US$ 771,185.82 per death averted, which yielded an ICER of US$ 25,535.95 per discounted life-year saved. Conclusions: CAH-NBS is important in preventing CAH mortality/morbidity, can reduce costs associated with adverse outcomes, and appears cost-effective.

Assessment of Safety and Outcome of Lateral Hypothalamic Deep Brain Stimulation for Obesity in a Small Series of Patients With Prader-Willi Syndrome.

Importance: Deep brain stimulation (DBS) has been investigated for treatment of morbid obesity with variable results. Patients with Prader-Willi syndrome (PWS) present with obesity that is often difficult to treat. Objective: To test the safety and study the outcome of DBS in patients with PWS. Design, Setting, and Participants: This case series was conducted in the Hospital das Clínicas, University of São Paulo, Brazil. Four patients with genetically confirmed PWS presenting with severe obesity were included. Exposure: Deep brain stimulation electrodes were bilaterally implanted in the lateral hypothalamic area. After DBS implantation, the treatment included the following phases: titration (1-2 months), stimulation off (2 months), low-frequency DBS (40 Hz; 1 month), washout (15 days), high-frequency DBS (130 Hz; 1 month), and long-term follow-up (6 months). Main Outcomes and Measures: Primary outcome measures were adverse events recorded during stimulation and long-term DBS treatment. Secondary outcomes consisted of changes in anthropometric measures (weight, body mass index [calculated as weight in kilograms divided by height in meters squared], and abdominal and neck circumference), bioimpedanciometry, and calorimetry after 6 months of treatment compared with baseline. The following evaluations and measurements were conducted before and after DBS: clinical, neurological, psychiatric, neuropsychological, anthropometry, calorimetry, blood workup, hormonal levels, and sleep studies. Adverse effects were monitored during all follow-up visits. Results: Four patients with PWS were included (2 male and 2 female; ages 18-28 years). Baseline mean (SD) body mass index was 39.6 (11.1). Two patients had previous bariatric surgery, and all presented with psychiatric comorbidity, which was well controlled with the use of medications. At 6 months after long-term DBS, patients had a mean 9.6% increase in weight, 5.8% increase in body mass index, 8.4% increase in abdominal circumference, 4.2% increase in neck circumference, 5.3% increase in the percentage of body fat, and 0% change in calorimetry compared with baseline. Also unchanged were hormonal levels and results of blood workup, sleep studies, and neuropsychological evaluations. Two patients developed stimulation-induced manic symptoms. Discontinuation of DBS controlled this symptom in 1 patient. The other required adjustments in medication dosage. Two infections were documented, 1 associated with skin picking. Conclusions and Relevance: Safety of lateral hypothalamic area stimulation was in the range of that demonstrated in patients with similar psychiatric conditions receiving DBS. In the small cohort of patients with PWS treated in our study, DBS was largely ineffective.

[Attention deficit disorder and hyperactivity: does the treatment affect the statural growth?]. / Hiperatividade e déficit de atenção: o tratamento prejudica o crescimento estatural?

The current study evaluated the influence of stimulant drugs used for attention deficit and hyperactivity (ADH) on statural growth. The authors conducted a literature review collecting published articles on attention deficit hyperactivity disorder and its relationship with short stature. The source of information was the PubMed database where the following terms were researched: "Growth and Methylphenidate"/"Attention deficit and hyperactivity versus short stature"/"Methylphenidate and growth disorders". ADH are difficult clinical situations that interfere with the patient's well-being and social and school performance. Once the diagnosis is attained stimulant medications such as methylphenidate have a key role in the treatment but there are concerns regarding their interference in growth and weight gain. We reviewed many publications regarding these side effects and there is no consensus on them; however, even when they happen to occur their intensity is not sufficient to preclude the use of the medication. We have to take into consideration the cost/benefit relationship, remembering that improvement in school and social performance are very welcome to the child and family. Careful monitoring of the growth chart can detect worsening of growth and its intensity will determine if the drug shall or shall not be interrupted.

Hiperatividade e déficit de atenção: o tratamento prejudica o crescimento estatural? / Attention deficit disorder and hyperactivity: does the treatment affect the statural growth?

O presente estudo avaliou a influência de drogas estimulantes usadas no déficit de atenção e hiperatividade no crescimento estatural. Os autores procederam a uma revisão de literatura coletando artigos publicados sobre déficit de atenção e hiperatividade e sua relação com a baixa estatura. A fonte consultada foi o PubMed e o tópico levantado foi "Crescimento e Metilfenidato"/"Déficit de atenção e hiperatividade versus baixa estatura"/"Metilfenidato e distúrbios de crescimento". Os transtornos de atenção e hiperatividade constituem-se em situações clínicas difíceis, por interferir no bem-estar da criança e no seu relacionamento social, com prejuízos de seu desenvolvimento escolar. Uma vez feito o diagnóstico, as medicações estimulantes como o metilfenidato têm papel primordial no tratamento, mas muito se teme com relação a certos efeitos colaterais, particularmente a perda de peso e a perda estatural. Revisou-se uma série de publicações a respeito e pôde-se verificar que não há consenso sobre tais efeitos colaterais, mas que, mesmo quando ocorrem, não são suficientemente intensos para impedir o tratamento. Um julgamento da relação custo-benefício da medicação é sempre apropriado, mas os benefícios obtidos com a medicação e com a melhora do rendimento escolar e das relações sociais da criança não devem ser esquecidos. Uma cuidadosa monitorização da curva pondoestatural permite que o médico vigie com segurança o tratamento prescrito e possa tomar decisões se julgar que o prejuízo estatural compromete o bem-estar do paciente.

The current study evaluated the influence of stimulant drugs used for attention deficit and hyperactivity (ADH) on statural growth. The authors conducted a literature review collecting published articles on attention deficit hyperactivity disorder and its relationship with short stature. The source of information was the PubMed database where the following terms were researched: "Growth and Methylphenidate"/"Attention deficit and hyperactivity versus short stature"/"Methylphenidate and growth disorders". ADH are difficult clinical situations that interfere with the patient's well-being and social and school performance. Once the diagnosis is attained stimulant medications such as methylphenidate have a key role in the treatment but there are concerns regarding their interference in growth and weight gain. We reviewed many publications regarding these side effects and there is no consensus on them; however, even when they happen to occur their intensity is not sufficient to preclude the use of the medication. We have to take into consideration the cost/benefit relationship, remembering that improvement in school and social performance are very welcome to the child and family. Careful monitoring of the growth chart can detect worsening of growth and its intensity will determine if the drug shall or shall not be interrupted.

Insulin pump therapy in type 1 diabetes mellitus.

OBJECTIVES: To review the current experience with insulin pump therapy in children and adolescents in order to guide pediatricians regarding indications and complications. SOURCES OF DATA: Systematic review of articles published in the literature referring to the use of insulin pump therapy, indications, complications and response to treatment. All articles published between 1995 and 2005 and appearing in the MEDLINE and LILACS databases were reviewed. The keywords were: insulin pump, type 1 diabetes mellitus and diabetes mellitus. The articles covering the subject of interest and referring to children and adolescents were selected. SUMMARY OF THE FINDINGS: Insulin pump therapy is not required for all patients with type 1 diabetes, since intensive treatments produce very similar results in terms of glycated hemoglobin and control of complications over the medium and long terms. However, the pump allows for greater comfort for patients, with less rigid meal schedules and better quality of life. The first requirement for patients intending to use the pump is getting used to having a device attached to the body and following strict glucose control; otherwise, pump therapy is not advantageous. Complications are rare due to the technologies currently available. The cost, however, is greater than with conventional treatments. CONCLUSION: The development of infusion pumps and glucose monitors, including continuous monitoring systems, will lead to "intelligent pumps," so that a true "artificial pancreas" will be available, which can even be implanted in the patient, allowing non-diabetic persons to lead a normal life.

Insulin pump therapy in type 1 diabetes mellitus

OBJETIVO: Rever a experiência com a utilização da bomba de infusão de insulina em crianças e adolescentes, a fim de orientar o pediatra quanto às suas indicações e complicações. FONTE DOS DADOS : Foi realizada revisão sistemática de artigos publicados em literatura que abordassem a utilização da bomba de infusão de insulina, suas indicações, complicações e resposta ao tratamento. Dessa forma, todos os artigos publicados entre 1995 e 2005 foram resgatados através do levantamento em banco de dados MEDLINE e LILACS. As palavras-chave utilizadas foram: insulin pumps, type 1 diabetes mellitus e diabetes mellitus. Foram separados os artigos que, além disso, versassem sobre o assunto na faixa etária descrita SíNTESE DOS DADOS: O uso da bomba de infusão de insulina em pacientes com diabetes melito tipo 1 não é uma necessidade para todos os pacientes, visto que, com tratamentos intensivos, os resultados conseguidos são muito parecidos, em termos de hemoglobina glicada e de controle de complicações a médio e longo prazo. No entanto, a bomba permite um maior conforto ao paciente, no sentido de que ele não precisa ficar tão restrito a horários rígidos de refeição e pode levar uma vida com melhor qualidade. Um primeiro requisito para quem pretenda usar a bomba é adaptar-se a aparelhos conectados ao corpo e a ter uma rotina de monitorização glicêmica rigorosa, pois, sem isso, as vantagens da bomba serão anuladas. As complicações, com os avanços tecnológicos de que dispomos atualmente, são muito infreqüentes. O custo, no entanto, é maior que nos tratamentos convencionais. CONCLUSÃO: Com a evolução das bombas de infusão e dos monitores de glicemia, incluindo sistemas de monitorização contínua, abre-se caminho para as "bombas inteligentes", e estaremos com um verdadeiro "pâncreas artificial", que pode mesmo ser implantado no paciente, permitindo uma vida com todas as regalias de uma pessoa não diabética.

OBJECTIVE: To review the current experience with insulin pump therapy in children and adolescents in order to guide pediatricians regarding indications and complications. SOURCES OF DATA : Systematic review of articles published in the literature referring to the use of insulin pump therapy, indications, complications and response to treatment. All articles published between 1995 and 2005 and appearing in the MEDLINE and LILACS databases were reviewed. The keywords were: insulin pump, type 1 diabetes mellitus and diabetes mellitus. The articles covering the subject of interest and referring to children and adolescents were selected. SUMMARY OF THE FINDINGS : Insulin pump therapy is not required for all patients with type 1 diabetes, since intensive treatments produce very similar results in terms of glycated hemoglobin and control of complications over the medium and long terms. However, the pump allows for greater comfort for patients, with less rigid meal schedules and better quality of life. The first requirement for patients intending to use the pump is getting used to having a device attached to the body and following strict glucose control; otherwise, pump therapy is not advantageous. Complications are rare due to the technologies currently available. The cost, however, is greater than with conventional treatments. CONCLUSION: The development of infusion pumps and glucose monitors, including continuous monitoring systems, will lead to "intelligent pumps," so that a true "artificial pancreas" will be available, which can even be implanted in the patient, allowing non-diabetic persons to lead a normal life.

[Brazilian Diabetes Society consensus statement--intensive insulin therapy and insulin pump therapy]. / Posição de consenso da Sociedade Brasileira de Diabetes--insulinoterapia intensiva e terapêutica com bombas de insulina.

This article reports the Brazilian Diabetes Society consensus statement on intensive insulin therapy and insulin pump therapy, arrived at during an update symposium held in 2003 for this specific purpose. The concepts underlying these modalities of diabetes treatment are outlined, their fundaments are given, and practical issues about their indications, feasibility, limits, techniques and cost-benefit relationships are analyzed. The techniques comprise the suggested self-monitoring schedules and the insulin doses, types, forms of administration and correction factors used in each modality of intensive treatment, for both type 1 and 2 diabetes. The roles of SBD in the implementation of these treatments and of the different professionals involved are discussed and commented. The conclusions are based on consensual answers to some orienting questions formulated during the symposium's presentation.

Posição de consenso da Sociedade Brasileira de Diabetes: insulinoterapia intensiva e terapêutica com bombas de insulina / Brazilian Diabetes Society consensus statement: intensive insulin therapy and insulin pump therapy

Este artigo relata a posição de consenso da Sociedade Brasileira de Diabetes sobre a insulinoterapia intensiva e a terapêutica com bombas de infusão de insulina, obtida durante simpósio de atualização realizado especificamente para esta finalidade, em 2003. Estas modalidades de tratamento do diabetes são aqui conceituadas, seus fundamentos são colocados, e os aspectos práticos de indicações, exeqüibilidade, limites, técnicas e relação custo-benefício são analisados. As técnicas envolvem os esquemas de auto-monitorização glicêmica sugeridos e as doses, tipos, formas de administração da insulina e fatores de cálculo utilizados em cada modalidade de tratamento intensivo, tanto no DM1 quanto no DM2. O papel da SBD na implementação dos tratamentos intensivos do diabetes e a atuação dos vários profissionais envolvidos são discutidos e comentados. Conclui-se com as respostas de consenso a questões orientadoras do tema, formuladas na apresentação do simpósio.

Corticoterapia e suas repercussoes: a relacao custo-beneficio / Repercussions of corticotherapy: the cost-benefit ratio

Revisao bibliografica a respeito dos mecanismos de acao,efeitos colaterais e principais recomendacoes ao uso de corticosteroides. Os corticosteroides estao entre os medicamnetos de utilizacao mais ampla em Medicina e a razao basica desse uso tao difundido e...