32 research outputs found
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this Consensus Statement, an international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management of BWS, including comprehensive protocols for the molecular investigation, care and treatment of patients from the prenatal period to adulthood. The consensus recommendations apply to patients with Beckwith-Wiedemann spectrum (BWSp), covering classical BWS without a molecular diagnosis and BWS-related phenotypes with an 11p15.5 molecular anomaly. Although the consensus group recommends a tumour surveillance programme targeted by molecular subgroups, surveillance might differ according to the local health-care system (for example, in the United States), and the results of targeted and universal surveillance should be evaluated prospectively. International collaboration, including a prospective audit of the results of implementing these consensus recommendations, is required to expand the evidence base for the design of optimum care pathways
p57Kip2 (cdkn1c): sequence, splice variants and unique temporal and spatial expression pattern in the rat pancreas
Myasthenic crisis: report of 24 cases Crise miastênica: relato de 24 casos
Myasthenic crisis (MC) is a life-threatening complication of myasthenia gravis (MG) with a high mortality rate. The aim of our study was to review the different therapeutics approaches in the treatment of MC and their impact in the final outcome. We reviewed the medical files of patients diagnosed with MG admitted between February 1993 and October 1997, who developed MC. Sex, mean age, disease's duration, functional scale, symptoms preceding the crisis, crisis therapy in each set and mortality were then analysed. There were 24 patients who developed MC, 21 females and 3 males, with 1 neonatal, 1 congenital sporadic, 17 juvenile/adult, 3 over 50 years and 2 with thymoma. Dysphagia, dysphonia and dysartria were the most common symptoms preceding the crisis. A precipitating factor was elicited in 8 cases and the most common was infection (upper airway infection, urinary tract infection and pneumonia). 16 patients needed a nasogastric tube and 9 had a tracheostomy performed. 24 patients used anticholinesterase drugs, 21 prednisone, 7 immunosuppressive agents, 5 plasmapheresis, 3 human hyperimune gamma immunoglobulin and 12 had thymectomy. A good response was obtained in 13, satisfactory in 7 and there were 4 deaths. We concluded that in spite of all the therapeutics options, there were non statistically significant differences in the outcome of patients that underwent thymectomy and those who did not.<br>A crise miastênica (CM) é uma complicação preocupante da miastenia grave (MG) que apresenta altos índices de mortalidade. Neste estudo revisamos as diferentes abordagens no tratamento da CM e seu impacto no resultado final. Levantamos os dados dos pacientes com MG que desenvolveram CM admitidos entre fevereiro de 1993 e outubro de 1997. Foram analisados as interrelações do sexo, idade media, duração da doença, escala funcional, sintomas e procedimentos precedendo as crises, terapêutica empregada e mortalidade. Foram encontrados 24 casos que desenvolveram CM, sendo 21 do sexo feminino e 3 do masculino. Em relação à apresentação clínica, 1 era da forma neonatal, 1 congênita esporádica, 17 juvenil/adulta, 3 acima de 50 anos e 2 com timoma. Os sintomas principais que precederam a CM foram disfagia, disfonia e disartria. Foi possível identificar um fator desencadeante em 8 casos e o mais comum foi infecção (vias aéreas, pneumonia e trato urinário). Necessitaram de sonda nasogastrica 16 casos e a traqueostomia, 9. Usaram medicações anticolinesterásicas todos os 24 casos, prednisona 21, imunossupressivos 7, plasmaferese 5, gamaglobulina hiperimune 3 e foram submetidos a timectomia 12 casos antes ou após a CM. Obtivemos bom resultado em 13, satisfatório em 7 e ocorreram 4 óbitos, sendo 3 não relacionados com a CM. Concluímos que apesar das várias opções terapêuticas empregadas, não houve diferença estatística entre os pacientes submetidos a timectomia e os com tratamento conservador