RESUMO
Transient abnormal myelopoiesis is a transient myeloproliferative disorder seen in â¼15% to 20% of infants with Down syndrome. These infants are usually asymptomatic, requiring only monitoring, but they can have variable severity of symptoms up to multisystemic dysfunction requiring chemotherapy. GATA-1 somatic mutations acquired in utero are pathognomic of this entity and present nearly in all cases. Herein, we present a case of Down syndrome in a neonate who presented within her first week of life with life-threatening features of transient abnormal myelopoiesis requiring chemotherapy support. In addition, next-generation sequencing revealed a small mutant clone (8%) positive for a novel frameshift GATA-1 mutation.
Assuntos
Síndrome de Down/patologia , Mutação da Fase de Leitura , Fator de Transcrição GATA1/genética , Reação Leucemoide/patologia , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Síndrome de Down/complicações , Síndrome de Down/tratamento farmacológico , Síndrome de Down/genética , Feminino , Humanos , Recém-Nascido , Reação Leucemoide/complicações , Reação Leucemoide/tratamento farmacológico , Reação Leucemoide/genética , Prognóstico , Adulto JovemRESUMO
Background: . Publication misconduct is a commonly reported finding among researchers from various backgrounds including those from the medical sciences. The reasons for such events are diverse and people address them differently. Methods: . The opinions and experiences of 72 medical educators enrolled in an online discussion forum for faculty development were analysed to ascertain possible reasons and ways to address publication misconduct. Results: . Of the 50 educators who participated in the discussion, 46 had one or more experiences of publication misconduct to share. Twelve participants felt that almost all kinds of publication misconduct, i.e. fabrication and falsification of data, plagiarism and authorship issues were a universal phenomenon. In the experience of majority of the participants, publication misconduct was common and often no action was taken. Lack of knowledge and awareness among teachers and students, personal gains, pressure for professional advancement and lack of monitoring and control were identified as the reasons for such misconduct. Several solutions were offered by the participants to address the problem, the most common was to have a formal training programme along with stringent monitoring and control mechanisms at the institutional level. Conclusion: . Publication misconduct occurs and people indulge in it for a variety of reasons. Institutional-level policies may be able to address some of these.
Assuntos
Pesquisa Biomédica/ética , Docentes/psicologia , Editoração/ética , Pesquisadores/psicologia , Má Conduta Científica/psicologia , Atitude , Humanos , Índia , PercepçãoRESUMO
Neonatal pertussis is a resurging disease, possibly due to waning immunity in pregnant women. We report seven cases of neonatal pertussis (Bordetella pertussis DNA PCR positive) in this retrospective study conducted at a tertiary care teaching hospital in north India over eight months (March to October 2018). All except one were male infants and presented at the age of 14-30 days with paroxysmal cough in all, four had fever, four had respiratory distress, three had similar illness in the family, and two had leucocytosis. All recovered well with azithromycin. The duration of hospital stay was 5-7 days. A strong suspicion of neonatal pertussis in neonates with paroxysmal cough and similar family history should be maintained as the prognosis is excellent, if treated appropriately.