UK-68,798, A Class III Antiarrhythmic Drug with Antifibrillatory Properties

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/74787/1/j.1527-3466.1992.tb00244.x.pd

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease affecting multiple body systems with wide variability in presentation. In 2013, Pediatric Neurology published articles outlining updated diagnostic criteria and recommendations for surveillance and management of disease manifestations. Advances in knowledge and approvals of new therapies necessitated a revision of those criteria and recommendations. METHODS: Chairs and working group cochairs from the 2012 International TSC Consensus Group were invited to meet face-to-face over two days at the 2018 World TSC Conference on July 25 and 26 in Dallas, TX, USA. Before the meeting, working group cochairs worked with group members via e-mail and telephone to (1) review TSC literature since the 2013 publication, (2) confirm or amend prior recommendations, and (3) provide new recommendations as required. RESULTS: Only two changes were made to clinical diagnostic criteria reported in 2013: "multiple cortical tubers and/or radial migration lines" replaced the more general term "cortical dysplasias," and sclerotic bone lesions were reinstated as a minor criterion. Genetic diagnostic criteria were reaffirmed, including highlighting recent findings that some individuals with TSC are genetically mosaic for variants in TSC1 or TSC2. Changes to surveillance and management criteria largely reflected increased emphasis on early screening for electroencephalographic abnormalities, enhanced surveillance and management of TSC-associated neuropsychiatric disorders, and new medication approvals. CONCLUSIONS: Updated TSC diagnostic criteria and surveillance and management recommendations presented here should provide an improved framework for optimal care of those living with TSC and their families

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations

Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease affecting multiple body systems with wide variability in presentation. In 2013, Pediatric Neurology published articles outlining updated diagnostic criteria and recommendations for surveillance and management of disease manifestations. Advances in knowledge and approvals of new therapies necessitated a revision of those criteria and recommendations. Methods: Chairs and working group cochairs from the 2012 International TSC Consensus Group were invited to meet face-to-face over two days at the 2018 World TSC Conference on July 25 and 26 in Dallas, TX, USA. Before the meeting, working group cochairs worked with group members via e-mail and telephone to (1) review TSC literature since the 2013 publication, (2) confirm or amend prior recommendations, and (3) provide new recommendations as required. Results: Only two changes were made to clinical diagnostic criteria reported in 2013: “multiple cortical tubers and/or radial migration lines” replaced the more general term “cortical dysplasias,” and sclerotic bone lesions were reinstated as a minor criterion. Genetic diagnostic criteria were reaffirmed, including highlighting recent findings that some individuals with TSC are genetically mosaic for variants in TSC1 or TSC2. Changes to surveillance and management criteria largely reflected increased emphasis on early screening for electroencephalographic abnormalities, enhanced surveillance and management of TSC-associated neuropsychiatric disorders, and new medication approvals. Conclusions: Updated TSC diagnostic criteria and surveillance and management recommendations presented here should provide an improved framework for optimal care of those living with TSC and their families

Characterization of newborns with nonimmune hydrops fetalis admitted to a neonatal intensive care unit Caracterização dos recém-nascidos com hidropisia fetal não imune admitidos em uma unidade neonatal de terapia intensiva

PURPOSE: To determine the incidence and characteristics of nonimmune hydrops fetalis in the newborn population. METHOD: A retrospective study of the period between 1996 and 2000, including all newborns with a prenatal or early neonatal diagnosis of nonimmune hydrops fetalis, based on clinical history, physical examination, and laboratory evaluation. The following were analyzed: prenatal follow-up, delivery type, gender, birth weight, gestational age, presence of perinatal asphyxia, nutritional classification, etiopathic diagnosis, length of hospital stay, mortality, and age at death. RESULTS: A total of 47 newborns with hydrops fetalis (0.42% of live births), 18 (38.3%) with the immune form and 29 (61.7%) with the nonimmune form, were selected for study. The incidence of nonimmune hydrops fetalis was 1 per 414 neonates. Data was obtained from 21 newborns, with the following characteristics: 19 (90.5%) were suspected from prenatal diagnosis, 18 (85.7%) were born by cesarean delivery, 15 (71.4%) were female, and 10 (47.6%) were asphyxiated. The average weight was 2665.9 g, and the average gestational age was 35 3/7 weeks; 14 (66.6%) were preterm; 18 (85.0 %) appropriate delivery time; and 3 (14.3%) were large for gestational age. The etiopathic diagnosis was determined for 62%, which included cardiovascular (19.0%), infectious (9.5%), placental (4.8%), hematologic (4.7%), genitourinary (4.8%), and tumoral causes (4.8%), and there was a combination of causes in 9.5%. The etiology was classified as idiopathic in 38%. The length of hospital stay was 26.6 &plusmn; 23.6 days, and the mortality rate was 52.4%. CONCLUSIONS: The establishment of a suitable etiopathic diagnosis associated with prenatal detection of nonimmune hydrops fetalis can be an important step in reducing the neonatal mortality rate from this condition.<br>OBJETIVOS: Determinar a incidência e caracterizar a população de recém-nascidos com hidropisia fetal não imune. MÉTODO: Estudo retrospectivo, referente ao período de 1996 a 2000, incluindo todos os recém-nascidos com diagnóstico antenatal ou neonatal, com base na história clínica, exame físico e avaliação laboratorial. Foram analisados: seguimento pré-natal, tipo de parto, sexo, peso de nascimento, idade gestacional, presença de asfixia perinatal, classificação nutricional, diagnóstico etiopatogênico, tempo de internação, mortalidade, idade do óbito. RESULTADOS: Foram selecionados 47 recém-nascidos com hidropisia fetal (0,42% dos nascidos vivos), 18 (38,3%) com a forma imune e 29(61,7%) com a não imune. A incidência de hidropisia fetal não imune foi de 1:414 nascidos vivos. Obtiveram-se dados de 21 recém-nascidos destes, 19 (90,5%) apresentavam suspeita diag nostico antenatal, 18 (85,7%) nasceram de parto cesariano; 15 (71,4%) eram do sexo feminino; 10 (47,6%) foram asfixiados. O peso médio foi 2665,9g, e a idade gestacional média de 35 3/7 sem, 14 (66,6%) pré-termo; 18 (85,7%) adequados e 3 (14,3%) grandes para idade gestacional. O diagnóstico etiopatogênico foi realizado em 62% dos recém-nascidos, sendo decorrente de causas cardiovasculares (19%), infecciosas (9,5%), placentária (4,76%), hematológicas (4,76,%), gênito-urinária (4,76%), tumoral (4,76%) e houve associação de causas em 9,5%. A etiologia foi classificada em idiopática em 38%. O tempo de internação foi de 26,6 dias &plusmn; 23,6 e a mortalidade de 52,4%. CONCLUSÕES: O estabelecimento de um correto diagnóstico etiopatogênico, associado à detecção antenatal da hidropisia fetal não imune, constitui elemento importante para uma redução da mortalidade neonatal decorrente desta grave doença