BACKGROUND: Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, potentially fatal lysosomal storage disease that exhibits a broad spectrum of clinical phenotypes. There is a need to expand the knowledge of disease mortality and morbidity in Germany because of limited information on survival analysis in patients with chronic ASMD (type B or type A/B). METHODS: This observational, multicentre, retrospective cohort study was conducted using medical records of patients with the first symptom onset/diagnosis of ASMD type B or type A/B between 1st January 1990 and 31st July 2021 from four German medical centres. Eligible medical records were abstracted to collect data on demographic characteristics, medical history, hospitalisation, mortality, and causes of death from disease onset to the last follow-up/death. Survival outcomes were estimated using the Kaplan-Meier analysis. Standardised mortality ratio (SMR) was also explored. RESULTS: This study included 33 chart records of patients with ASMD type B (n = 24) and type A/B (n = 9), with a median (interquartile range [IQR]) age of 8.0 [3.0-20.0] years and 1.0 [1.0-2.0] years, respectively, at diagnosis. The commonly reported manifestations were related to spleen (100.0%), liver (93.9%), and respiratory (77.4%) abnormalities. Nine deaths were reported at a median [IQR] age of 17.0 [5.0-25.0] years, with 66.7% of overall patients deceased at less than 18 years of age; the median [IQR] age at death for patients with ASMD type B (n = 4) and type A/B (n = 5) was 31.0 [11.0-55.0] and 9.0 [4.0-18.0] years, respectively. All deaths were ASMD-related and primarily caused by liver or respiratory failures or severe progressive neurodegeneration (two patients with ASMD type A/B). The median (95% confidence interval [CI]) overall survival age since birth was 45.4 (17.5-65.0) years. Additionally, an SMR [95% CI] analysis (21.6 [9.8-38.0]) showed that age-specific deaths in the ASMD population were 21.6 times more frequent than that in the general German population. CONCLUSIONS: This study highlights considerable morbidity and mortality associated with ASMD type B and type A/B in Germany. It further emphasises the importance of effective therapy for chronic ASMD to reduce disease complications.
Niemann-Pick Disease, Type A , Niemann-Pick Diseases , Adolescent , Adult , Child , Humans , Middle Aged , Young Adult , Germany/epidemiology , Morbidity , Niemann-Pick Disease, Type A/epidemiology , Niemann-Pick Disease, Type A/genetics , Niemann-Pick Diseases/epidemiology , Niemann-Pick Diseases/genetics , Retrospective Studies
European real-world data indicate that front-line treatment with caplacizumab is associated with improved clinical outcomes compared with delayed caplacizumab treatment. The objective of the study was to describe the characteristics, treatment patterns, and outcomes in hospitalized patients with an immune-mediated thrombotic thrombocytopenic purpura (iTTP) episode treated with front-line versus delayed caplacizumab in the US. This retrospective cohort analysis of a US hospital database included adult patients (≥18 years) with an acute iTTP episode (a diagnosis of thrombotic microangiopathy and ≥1 therapeutic plasma exchange [TPE] procedure) from January 21, 2019, to February 28, 2021. Unadjusted baseline characteristics, treatment patterns, healthcare resource utilization, and costs were compared between patients who received front-line versus delayed (<2 vs ≥2 days after TPE initiation) caplacizumab treatment. Out of 39 patients, 16 (41.0%) received front-line and 23 (59.0%) received delayed treatment with caplacizumab. Baseline characteristics and symptoms were similar between the two groups. Patients who received front-line caplacizumab treatment had significantly fewer TPE administrations (median: 5.0 vs 12.0); and a significantly shorter hospital stay (median: 9.0 days vs 16.0 days) than patients receiving delayed caplacizumab therapy. Both of these were significantly lower in comparison of means (t-test P < .01). Median inpatient costs (inclusive of caplacizumab costs) were 54% higher in the delayed treated patients than in the front-line treated patients (median: $112â 711 vs $73â 318). TPE-specific cost was lower in the front-line treated cohort (median: $6 989 vs $10â 917). In conclusion, front-line treatment with caplacizumab had shorter hospitalizations, lower healthcare resource utilization, and lower costs than delayed caplacizumab treatment after TPE therapy.
Purpura, Thrombocytopenic, Idiopathic , Purpura, Thrombotic Thrombocytopenic , Single-Domain Antibodies , Thrombosis , Adult , Humans , Purpura, Thrombotic Thrombocytopenic/drug therapy , Retrospective Studies , Single-Domain Antibodies/adverse effects , Purpura, Thrombocytopenic, Idiopathic/drug therapy , Plasma Exchange , Thrombosis/drug therapy , ADAMTS13 Protein , Hospitals
INTRODUCTION: Acid sphingomyelinase deficiency (ASMD) type B is a rare genetic disorder leading to enlargement of the spleen and liver, pulmonary dysfunction, and other symptoms. Cost-utility analyses are often conducted to quantify the value of new treatments, and these analyses require health state utilities. Therefore, the purpose of this study was to estimate utilities associated with varying levels of severity of adult and pediatric ASMD type B. METHODS: Seven adult and seven child health state vignettes describing ASMD were developed based on published literature, clinical trial results, and interviews with clinicians, patients with ASMD, and parents of children with ASMD. The health states were valued in time trade-off interviews with adult general population respondents in the UK. RESULTS: Interviews were completed with 202 participants (50.0% female; mean age = 41.3 years). The health state representing ASMD without impairment had the highest mean utility for both the adult and child health states (0.92/0.94), and severe ASMD had the lowest mean utility (0.33/0.45). Every child health state had a significantly greater utility than the corresponding adult health state. Differences between adult/child paired states ranged from 0.02 to 0.13. Subgroup analyses explored the impact of parenting status on valuation of child health states. DISCUSSION: Greater severity of ASMD was associated with lower mean utility. Results have implications for valuation of pediatric health states. The resulting utilities may be useful in cost-utility modeling estimating the value of treatment for ASMD.
Objetivo: O estudo tem por objetivo entender as características demográficas e a utilização de recursos para o tratamento da dermatite atópica (DA) no Sistema Único de Saúde (SUS). Métodos: Estudo observacional retrospectivo de dados disponibilizados pelo Departamento de Informática do SUS (Datasus). Os pacientes de interesse foram selecionados por meio do CID-10 L20 (DA). Os dados de interesse foram extraídos do Sistema de Informações Hospitalares (SIH) e Ambulatoriais (SIA) do SUS. Foram extraídos dados de janeiro de 2015 a junho de 2020. Resultados: Foram identificados 27.813 pacientes que realizaram algum procedimento (ambulatorial ou hospitalar) relacionado diretamente com o CID-10 L20. A maior prevalência dos pacientes encontra-se no estado de SP, com 28,6% do total. Foram identificados 116 pacientes que utilizaram alguma das terapias sistêmicas utilizadas no tratamento da DA, sendo a ciclosporina o medicamento mais utilizado (53%). Todas as dispensações estão vinculadas a CIDs de doenças diferentes da DA, porém, pelas premissas adotadas nesse estudo, assumimos que os medicamentos utilizados foram para tratamento da DA, com exceção daqueles relacionados a transplante. Foram realizados 49.245 procedimentos/atendimentos. Identificaram-se 5.006 internações, realizadas por 4.616 pacientes. Foi observado um repasse total de R$ 2.007.757,13 para atendimentos; 77% desse total representam gastos com hospitalizações. Conclusões: Entender o perfil da população afetada pela DA no Brasil e o padrão de uso de recursos pode ajudar a compreender a carga da doença para o sistema público de saúde e auxiliar no desenvolvimento de protocolos clínicos e diretrizes terapêuticas para o tratamento da doença
Objective: The study aims to understand the demographic characteristics and use of resources related to atopic dermatitis (AD) treatment in the Brazilian Unified National Health System (SUS). Methods: Retrospective observational study of data obtained from Brazilian Health Informatics Department (Datasus). Patients of interest were selected using the ICD-10 L20 (AD). The data of interest were extracted from the Hospital (SIH) and the Outpatient Information System (SIA). Data were extracted from January 2015 to June 2020. Results: We identified 27,813 patients who underwent some procedure (outpatient or hospital) directly related to ICD-10 L20. The highest prevalence of patients is in the state of SP, with 28,6% of the total. We identified 116 patients who used some of the systemic therapies used in the treatment of AD, and cyclosporine was the most used drug (53%). However, all dispensations are linked to ICDs of diseases other than AD, but due to the premises adopted in this study, we assumed that the use of the drugs were for the treatment of AD, except for those related to transplantation. 49,245 procedures/visits were performed. A total of 5,006 hospitalizations were identified by 4,616 patients. A total transfer of 2,007,757.13 BRL was observed for health care, and 77% of this total represent hospitalization expenses. Conclusions: Understanding the profile of the population affected by AD in Brazil and the pattern of resource use can help to understand the burden of the disease on the public health system and assist in the development of clinical protocols and therapeutic guidelines for the treatment of the disease
Unified Health System , Dermatitis, Atopic , Observational Studies as Topic
Antecedentes: la mayoría de los tumores esofágicos son adenocarcinomas o carcinomas epidermoides. Los leiomiomas, aunque infrecuentes, son los tumores benignos más usuales. Pero también existen otros de muy ocasional presentación(estromales, de células granulares, schwannomas y otras neoplasias más raras aún), que se diagnostican con certeza desde que existe la inmunomarcación para identificar sus características anatomopatológicas. Objetivo: Comunicar la experiencia de los autores en relación al diagnóstico y tratamiento. Diseño: Evaluación retrospectiva. Lugar de aplicación: instituto oncológico universitario y hospital general. Población: 19 pacientes portadores de tumores mesenquimáticos primarios del esófago. Método: evaluación de manifestaciones clínicas, procedimientos diagnósticos, abordajes terapéuticos y evolución de los pacientes. Materiales: Entre 1982 y 2005, se operaron 243 tumores esofágicos observados. Dos eran melanomas, 1 tumos epitelial de colisión y 19 tumores mesenquimáticos. De estos últimos, 13 eran leiomiomas, 2 estromales benignos, 2 leiomiosarcomas, 1 schwannoma y 1 tumor de células granulares. Con la excepción de 1 caso cuyo tumor se descubrió incidentalmente, todos los demás se manifestaron por disfagia leve o moderada. El tumor de células granulares era sésil, 1 leiomioma (asociado a leiomiosarcoma independiente) era pedulado. Todos los demás fueron intramurales. Dos lesiones radicaban en área yustacardial, 1 en tercio superior y los demás en el tercio medio. Los procedimientos operatorios fueron: 1) 2 esofagectomías debido a leiomiosarcomas y otra por schwannoma, efectuada fuera de nuestro hospital, 2) 11 enucleaciones extramucosas realizadas a través de las siguientes vías de abordaje: 8 toracotomías, 1 laparotomia y 2 toracoscopias. Se llevaron a cabo 2 resecciones endoscópicas por 1 leiomioma y 1 tumor de células granulares. Resultados: No hubo mortalidad operatoria...
Humans , Male , Female , Adult , Middle Aged , Leiomyoma/surgery , Leiomyoma/diagnosis , Esophageal Neoplasms/surgery , Leiomyosarcoma/surgery , Leiomyosarcoma/diagnosis , Esophageal Neoplasms/diagnosis , Esophageal Neoplasms/pathology , Granular Cell Tumor/surgery , Granular Cell Tumor/diagnosis
El objetivo de este artículo es presentar nuestra experiencia en el diagnóstico y tratamiento de neumotórax...En los NEP(neumotórax espontáneo primario) aconsejamos el uso del avenamiento pleural bajo sello de agua con tubos de 24 F de luz interna, dejando para la primera recidiva homolateral o el neumotórax contralateral, la realización de un procedimiento para prevenir la recidiva (cirugía). En los NES (neumotórax espontáneo secundario, aconsejamos el avenamiento pleural como tratamiento primario y siempre realizar un procedimiento para prevenir la recidiva. El abordaje que aconsejamos para este fin es la VATS con la resección de parénquima pulmonar enfermo mediante suturas mecánicas y la pleurodesis mecánica o con electrofulguración. La pleurodesis química por punción la reservamos sólo para pacientes de elevado riesgo quirúrgico
Humans , Adult , Pneumothorax/surgery , Pneumothorax/diagnosis , Pneumothorax/therapy , General Surgery
El objetivo de este artículo es presentar nuestra experiencia en el diagnóstico y tratamiento de neumotórax...En los NEP(neumotórax espontáneo primario) aconsejamos el uso del avenamiento pleural bajo sello de agua con tubos de 24 F de luz interna, dejando para la primera recidiva homolateral o el neumotórax contralateral, la realización de un procedimiento para prevenir la recidiva (cirugía). En los NES (neumotórax espontáneo secundario, aconsejamos el avenamiento pleural como tratamiento primario y siempre realizar un procedimiento para prevenir la recidiva. El abordaje que aconsejamos para este fin es la VATS con la resección de parénquima pulmonar enfermo mediante suturas mecánicas y la pleurodesis mecánica o con electrofulguración. La pleurodesis química por punción la reservamos sólo para pacientes de elevado riesgo quirúrgico
Humans , Adult , Pneumothorax/surgery , Pneumothorax/diagnosis , Pneumothorax/therapy , General Surgery
Clinical diagnosis of subarachnoid hemorrhage (SAH) is frequently misdiagnosed with intracereblar hemorrhage (ICH) or cerebral infarction (CI), which delays appropriate referrral. This study was undertaken to create a clinical index to select, among stroke patients, those with the highest probability of having a SAH. Clinical data of patients with acute stroke were evaluated with the X² and the Fisher exact test; a p value <0.05 was considered significant. Significant variables were included in a "long-lineal regression analysis" where those with and odds ratio (OR) 95 percent confidence limits not including the unit were considered to construct an index using the odds ratio coefficient (C). The results indicated that of 197 records which were included, 22 cases of SAH and 175 of ICH or CI were demonstrated. Kappa coefficients for observer variation in clinical data retrieval was 0.91. After "long-lineal regression analysis" was carried out the following variables were significant: neck stiffness (C=3, OR=21); lack of focal neurologic signs (C=2, OR=6.88); and age < or = 60 years (C=1.5, OR=4.35). A fourth variable, seixures (C=1, OR=3.25), was marginally significant (p=0.07), but added predictive value to the index. The positve predictive values of the sum of the coefficients were: 0=0 percent; 1-2=3 percent; 2.5-3.5=21 percent; 4-5=40 percent; 6.5=75 percent: 7.5=100 percent. In conclusion, when a stroke patient shows neck stiffness, or any combination of young age, lack of focal neurologic signs or seizures (a score > or = 2.5, the index has a 91 percent sentivity and 82 percent specificity), he/she must be referred to a tertiary care center
Humans , Cerebral Infarction/diagnosis , Cerebrovascular Disorders/diagnosis , Signs and Symptoms , Subarachnoid Hemorrhage/diagnosis
El aumento de la velocidade de sedimentación globular (VSG) es la expresión sumaria de los cambios en la composición protéica del suero inducidos por la interleucina-1 (IL-1) como parte de la llamada "respuesta de fase aguda". Dado que la principal manifestación clínica de esta "fase aguda", la fiebre, suele ser mayor en las tardes y en las noches que en las mañanas, se investigó la posibilidad de que también los cambios en la VSG pudieron variar en forma circadiana. En 30 individuos normales y en 30 pacientes con fiebre se midió la VSG a las 7:00, a las 16:00 y a las 22:00 hrs. del mismo día. En los individuos normales los valores de VSG fueron de 6.8 ñ 3.1,7.4 ñ 2.5 y 7.8 ñ 2.5 mm/hora respectivamente (X ñ desviación estándar); las diferencias entre los tres horarios no fueron significativas. Los pacientes con fiebre tuvieron VSG a las 7:00 hrs. de 49.9 ñ 7.8 mm/hora, a las 15:00hrs. de 52.4 ñ 6.5 mm/hora y a las 22:00 de 55.7 ñ 7.2 mm/hora. La diferencia entre los valores obtenidos por el grupo de pacientes entre la mañana y la tarde no fue significativa; en cambio la VSG de la mañana fue significativamente menor que la de la noche (p<0.001> y ésta, significativamente mayor que la de la tarde (p<0.05). Puesto que todos los valores obtenidos en el grupo de enfermos con fiebre fueron anormales y todos los de los sujetos sanos fueron normales, el hallazgo no tiene ninguna implicación clínica, pero ilustra la posibilidad de que la producción de IL-1 en la fiebre o sus efectos sobre la síntesis de proteínas de fase aguda, no sean uniformes durante el día sino que sufran variaciones probablemente por influencia de otros ritmos circadianos fisiológicos
Adult , Middle Aged , Humans , Male , Female , Circadian Rhythm , Interleukin-1/analysis , Blood Sedimentation/methods , Fever
