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1.
J Med Cases ; 12(1): 16-17, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34434421

RESUMO

A 48-year-old man diagnosed with multiorgan failure and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pneumonia developed anemia and polyclonal cold agglutinins that reacted at 37 °C. He recovered after a 2-month hospitalization where he received intensive care support. Cold agglutinins resolved after 2 weeks of supportive care. As red blood cell (RBC) cryptic antigens and warm type autoimmune hemolysis have been recently described in coronavirus disease 2019 (COVID-19) patients, we believe this mechanism may also give rise of clinically detectable cold immunoglobulin M (IgM) autoantibodies. Given the thermal amplitude of this particular agglutinin we believe it is possible that in vivo RBC agglutination could contribute to disease severity.

2.
BMJ Case Rep ; 14(2)2021 Feb 04.
Artigo em Inglês | MEDLINE | ID: mdl-33541961

RESUMO

Multiple endocrine neoplasia type 2B (MEN2B) is the rarest and most aggressive of the MEN syndromes. It is characterised by medullary thyroid cancer (MTC), pheochromocytoma, marfanoid body habitus, mucosal neuromas and colonic dysfunction. Patients typically present with chronic constipation and MTC in early childhood. We discuss an atypical late presentation of MEN2B in a 19-year-old man with chronic constipation since childhood admitted with acute spinal cord compression. He underwent emergent neurosurgical intervention followed by postoperative radiotherapy. Bone biopsy revealed metastatic pheochromocytoma. Thyroid nodule biopsy showed MTC. MIBG scan confirmed pheochromocytoma as the dominant malignancy. Germline testing revealed a RET mutation (p.M918T). He received one cycle of cyclophosphamide, vincristine and dacarbazine and subsequently developed a pathological right femur fracture requiring repair. Postoperative course was complicated by hypoxic respiratory failure requiring intubation. Imaging showed lymphangitic spread of disease in the lungs. He unfortunately did not respond to a short trial of sunitinib and transitioned to comfort care.


Assuntos
Neoplasias das Glândulas Suprarrenais/diagnóstico , Carcinoma Neuroendócrino/complicações , Diagnóstico Tardio , Neoplasia Endócrina Múltipla Tipo 2b/diagnóstico , Mutação , Feocromocitoma/cirurgia , Neoplasias da Glândula Tireoide/complicações , Adulto , Humanos , Masculino , Segunda Neoplasia Primária , Compressão da Medula Espinal , Adulto Jovem
3.
BMC Plant Biol ; 14: 204, 2014 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-25084677

RESUMO

BACKGROUND: The Maternally expressed gene (Meg) family is a locally-duplicated gene family of maize which encodes cysteine-rich proteins (CRPs). The founding member of the family, Meg1, is required for normal development of the basal endosperm transfer cell layer (BETL) and is involved in the allocation of maternal nutrients to growing seeds. Despite the important roles of Meg1 in maize seed development, the evolutionary history of the Meg cluster and the activities of the duplicate genes are not understood. RESULTS: In maize, the Meg gene cluster resides in a 2.3 Mb-long genomic region that exhibits many features of non-centromeric heterochromatin. Using phylogenetic reconstruction and syntenic alignments, we identified the pedigree of the Meg family, in which 11 of its 13 members arose in maize after allotetraploidization ~4.8 mya. Phylogenetic and population-genetic analyses identified possible signatures suggesting recent positive selection in Meg homologs. Structural analyses of the Meg proteins indicated potentially adaptive changes in secondary structure from α-helix to ß-strand during the expansion. Transcriptomic analysis of the maize endosperm indicated that 6 Meg genes are selectively activated in the BETL, and younger Meg genes are more active than older ones. In endosperms from B73 by Mo17 reciprocal crosses, most Meg genes did not display parent-specific expression patterns. CONCLUSIONS: Recently-duplicated Meg genes have different protein secondary structures, and their expressions in the BETL dominate over those of older members. Together with the signs of positive selections in the young Meg genes, these results suggest that the expansion of the Meg family involves potentially adaptive transitions in which new members with novel functions prevailed over older members.


Assuntos
Endosperma/genética , Genes Duplicados , Família Multigênica , Zea mays/genética , Sequência de Aminoácidos , Substituição de Aminoácidos , Evolução Molecular , Regulação da Expressão Gênica de Plantas , Genes de Plantas , Dados de Sequência Molecular , Filogenia , Estrutura Secundária de Proteína , Seleção Genética , Transcriptoma
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