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1.
Lab Med ; 54(3): 327-332, 2023 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-36242597

RESUMO

Monogenetic diabetes mellitus (DM) describes a collection of single-gene diseases marked by hyperglycemia presenting in childhood or adulthood and the absence of immunological markers of type 1 DM. Mutations in the human insulin gene INS give rise to two separate clinical syndromes: permanent neonatal DM, type 4 (PNDM4), and maturity-onset diabetes of youth, type 10 (MODY10); the former presents shortly after birth and the latter presents in childhood and adulthood. We describe a 40-year-old man in a kindred with high prevalence of DM who presented with severe hyperglycemia but not ketoacidosis or hypertriglyceridemia. Twelve years after initial presentation, the patient had elevated proinsulin and normal plasma C-peptide when nearly euglycemic on treatment with insulin glargine. A novel INS mutation, Gln65Arg, within the C-peptide region was identified. The INS (p.Gln65Arg) mutation may cause MODY10 by disrupting proinsulin maturation.


Assuntos
Diabetes Mellitus Tipo 2 , Hiperglicemia , Masculino , Recém-Nascido , Humanos , Adolescente , Adulto , Proinsulina/genética , Peptídeo C/genética , Diabetes Mellitus Tipo 2/genética , Insulina/uso terapêutico , Mutação
2.
Ann Surg Oncol ; 28(12): 6955-6964, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33954868

RESUMO

ERAS protocols may reduce length of stay and return to full functional recovery after cytoreductive surgery and HIPEC. Prehabilitation programs and post-operative goal directed pathways, along with other essential components of ERAS are discussed with supporting evidence.


Assuntos
Recuperação Pós-Cirúrgica Melhorada , Neoplasias , Procedimentos Cirúrgicos de Citorredução , Humanos , Quimioterapia Intraperitoneal Hipertérmica , Tempo de Internação , Neoplasias/cirurgia , Complicações Pós-Operatórias , Período Pós-Operatório
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