Base de dados : MEDLINE
Pesquisa : C05.660.207.325 [Categoria DeCS]
Referências encontradas : 47 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 5 ir para página              

  1 / 47 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28765322
[Au] Autor:Hosoe J; Kadowaki H; Miya F; Aizu K; Kawamura T; Miyata I; Satomura K; Ito T; Hara K; Tanaka M; Ishiura H; Tsuji S; Suzuki K; Takakura M; Boroevich KA; Tsunoda T; Yamauchi T; Shojima N; Kadowaki T
[Ad] Endereço:Department of Diabetes and Metabolic Diseases, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
[Ti] Título:Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.
[So] Source:Diabetes;66(10):2713-2723, 2017 Oct.
[Is] ISSN:1939-327X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The insulin receptor ( ) gene was analyzed in four patients with severe insulin resistance, revealing five novel mutations and a deletion that removed exon 2. A patient with Donohue syndrome (DS) had a novel p.V657F mutation in the second fibronectin type III domain (FnIII-2), which contains the α-ß cleavage site and part of the insulin-binding site. The mutant INSR was expressed in Chinese hamster ovary cells, revealing that it reduced insulin proreceptor processing and impaired activation of downstream signaling cascades. Using online databases, we analyzed 82 missense mutations and demonstrated that mutations causing DS were more frequently located in the FnIII domains than those causing the milder type A insulin resistance ( = 0.016). In silico structural analysis revealed that missense mutations predicted to severely impair hydrophobic core formation and stability of the FnIII domains all caused DS, whereas those predicted to produce localized destabilization and to not affect folding of the FnIII domains all caused the less severe Rabson-Mendenhall syndrome. These results suggest the importance of the FnIII domains, provide insight into the molecular mechanism of severe insulin resistance, will aid early diagnosis, and will provide potential novel targets for treating extreme insulin resistance.
[Mh] Termos MeSH primário: Resistência à Insulina/fisiologia
Receptor de Insulina/genética
[Mh] Termos MeSH secundário: Adolescente
Pré-Escolar
Síndrome de Donohue/genética
Feminino
Genótipo
Seres Humanos
Lactente
Resistência à Insulina/genética
Masculino
Mutação/genética
Mutação de Sentido Incorreto/genética
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.10.1 (Receptor, Insulin)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171002
[Lr] Data última revisão:
171002
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170803
[St] Status:MEDLINE
[do] DOI:10.2337/db17-0301


  2 / 47 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27326825
[Au] Autor:Bastaki F; Nair P; Mohamed M; Khadora MM; Saif F; Tawfiq N; Al-Ali MT; Hamzeh AR
[Ad] Endereço:Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
[Ti] Título:Identification of a Novel Homozygous INSR Variant in a Patient with Rabson-Mendenhall Syndrome from the United Arab Emirates.
[So] Source:Horm Res Paediatr;87(1):64-68, 2017.
[Is] ISSN:1663-2826
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:BACKGROUND/AIMS: This study aimed to identify, clinically and molecularly, the causality of Rabson-Mendenhall syndrome in an Emirati family. It is one of the monogenic syndromes of abnormal glucose homeostasis, which result from insulin receptor defects. METHODS: A novel nonsynonymous variant in the INSR gene was uncovered by whole exome sequencing and confirmed using Sanger sequencing in the patient and his parents. Various in silico tools were utilized to analyze the functional consequences of the variant. RESULTS: Results revealed a previously unreported INSR variant in the family: c.421C>T (p.Arg141Trp). Homozygosity for the variant was found in the patient, while both parents were heterozygous. CONCLUSION: The nonsynonymous protein change hit a highly conserved arginine residue in the insulin-binding α-subunit of the receptor and was deemed 'functionally damaging' by a myriad of bioinformatics tools. This report is a step forward along the way of achieving a better molecular and clinical characterization of Rabson-Mendenhall syndrome.
[Mh] Termos MeSH primário: Antígenos CD/genética
Síndrome de Donohue/genética
Homozigoto
Mutação de Sentido Incorreto
Receptor de Insulina/genética
[Mh] Termos MeSH secundário: Adulto
Substituição de Aminoácidos
Pré-Escolar
Família
Feminino
Seres Humanos
Masculino
Emirados Árabes Unidos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antigens, CD); EC 2.7.10.1 (INSR protein, human); EC 2.7.10.1 (Receptor, Insulin)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170428
[Lr] Data última revisão:
170428
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160622
[St] Status:MEDLINE
[do] DOI:10.1159/000447090


  3 / 47 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
[PMID]:27840822
[Au] Autor:Mahmud Z; Malik SU; Ahmed J; Azad AK
[Ad] Endereço:Department of Genetic Engineering and Biotechnology, Shahjalal University of Science and Technology, Sylhet 3114, Bangladesh.
[Ti] Título:Computational Analysis of Damaging Single-Nucleotide Polymorphisms and Their Structural and Functional Impact on the Insulin Receptor.
[So] Source:Biomed Res Int;2016:2023803, 2016.
[Is] ISSN:2314-6141
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Single-nucleotide polymorphisms (SNPs) associated with complex disorders can create, destroy, or modify protein coding sites. Single amino acid substitutions in the insulin receptor (INSR) are the most common forms of genetic variations that account for various diseases like Donohue syndrome or Leprechaunism, Rabson-Mendenhall syndrome, and type A insulin resistance. We analyzed the deleterious nonsynonymous SNPs (nsSNPs) in gene based on different computational methods. Analysis of INSR was initiated with PROVEAN followed by PolyPhen and I-Mutant servers to investigate the effects of 57 nsSNPs retrieved from database of SNP (dbSNP). A total of 18 mutations that were found to exert damaging effects on the INSR protein structure and function were chosen for further analysis. Among these mutations, our computational analysis suggested that 13 nsSNPs decreased protein stability and might have resulted in loss of function. Therefore, the probability of their involvement in disease predisposition increases. In the lack of adequate prior reports on the possible deleterious effects of nsSNPs, we have systematically analyzed and characterized the functional variants in coding region that can alter the expression and function of gene. characterization of nsSNPs affecting gene function can aid in better understanding of genetic differences in disease susceptibility.
[Mh] Termos MeSH primário: Síndrome de Donohue/genética
Resistência à Insulina/genética
Polimorfismo de Nucleotídeo Único/genética
Receptor de Insulina/química
[Mh] Termos MeSH secundário: Substituição de Aminoácidos/genética
Biologia Computacional
Síndrome de Donohue/patologia
Seres Humanos
Mutação
Conformação Proteica
Receptor de Insulina/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.10.1 (Receptor, Insulin)
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161115
[St] Status:MEDLINE


  4 / 47 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:26974131
[Au] Autor:Azzabi O; Jilani H; Rejeb I; Siala N; Elaribi Y; Hizem S; Selmi I; Halioui S; Lascols O; Jemaa LB; Maherzi A
[Ti] Título:Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome.
[So] Source:J Pediatr Endocrinol Metab;29(6):753-6, 2016 Jun 01.
[Is] ISSN:2191-0251
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features. We describe a new case of Donohue syndrome born at 37 weeks' gestation of unrelated parents and presented with intra-uterine growth retardation, nipple hypertrophy, macropenis, distended abdomen, hirsutism and dysmorphic features. The clinical course showed failure to thrive, and episodes of alternating hypoglycemia and hyperglycemia. Laboratory tests revealed direct hyperbilirubinemia. The diagnosis of Donohue syndrome was established based on the above clinical characteristics and determination of the INSR mutation. He was found to have homozygous nonsense mutation c. 2270 C>T (Arg924X) at exon 14 of the INSR gene. He later developed enterocolitis and died at 3 months old. Prenatal diagnosis was performed for the family via chorionic villous biopsy. We try to explain gastrointestinal dysfunction seen in our patient.
[Mh] Termos MeSH primário: Antígenos CD/genética
Síndrome de Donohue/genética
Mutação
Receptor de Insulina/genética
[Mh] Termos MeSH secundário: Homozigoto
Seres Humanos
Recém-Nascido
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antigens, CD); EC 2.7.10.1 (INSR protein, human); EC 2.7.10.1 (Receptor, Insulin)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170421
[Lr] Data última revisão:
170421
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160315
[St] Status:MEDLINE


  5 / 47 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:26874853
[Au] Autor:Siala-Sahnoun O; Dhieb D; Ben Thabet A; Hmida N; Belguith N; Fakhfakh F
[Ad] Endereço:Live Sciences Department, Faculty of Sciences of Sfax, Sfax, Tunisia. olfasiala9@gmail.com.
[Ti] Título:First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene.
[So] Source:Mol Biol Rep;43(3):165-73, 2016 Mar.
[Is] ISSN:1573-4978
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Donohue syndrome (DS) is a very rare autosomal recessive disease affecting less than one in a million life births. It represents the most severe form of insulin resistance due to mutations involving the insulin receptor (IR) gene "INSR". DS is characterized by pre- and postnatal growth retardation with failure-to-thrive, lipoatrophy, acanthosis nigricans, hypertrichosis, and dysmorphic features. An exhaustive INSR gene sequencing was performed after PCR amplification of coding exons and introns boundaries. Bioinformatic tools, including ESEfinder, MFOLD and Proter software were also used to predict the impact of INSR mutation on INSR on gene expression as well as on the protein structure and function. The results have shown a novel unusual c.3003_3012delinsGGAAG (p.S1001_D1004delinsRE) insertion/deletion (indel) mutation within the exon 16 in the three patients, which represent the fourth indel mutation within the INSR gene. The mutation modifies the secondary structure of DNA and RNA, as well as the composition of exonic splicing enhancers of exon 16. Moreover, despite the conservation of the secondary structure of the IR, the p.S1001_D1004delinsRE in-frame mutation is accompanied by the loss of four amino acids replaced by two residues of different nature and hydrophobicity level in the juxtamembrane domain of the receptor. The results have confirmed the role of the juxtamembrane domain of IR involved in a crucial interaction of the IR with cellular effectors essentially the IR substrate 1 (IRS-1), the SHC and the Nck proteins that ensure the signal mediated by the insulin transduction pathway in target cells. Our findings have also proven the genotype/phenotype correlation between INSR mutation and DS phenotype severity.
[Mh] Termos MeSH primário: Antígenos CD/genética
Síndrome de Donohue/metabolismo
Mutação INDEL
Receptor de Insulina/genética
Transdução de Sinais
[Mh] Termos MeSH secundário: Proteínas Adaptadoras de Transdução de Sinal/metabolismo
África
Sequência de Aminoácidos
Antígenos CD/metabolismo
Síndrome de Donohue/genética
Feminino
Expressão Gênica
Seres Humanos
Lactente
Recém-Nascido
Proteínas Substratos do Receptor de Insulina/metabolismo
Masculino
Dados de Sequência Molecular
Proteínas Oncogênicas/metabolismo
Estrutura Secundária de Proteína
Receptor de Insulina/metabolismo
Alinhamento de Sequência
Análise de Sequência de DNA
Proteínas Adaptadoras da Sinalização Shc/metabolismo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Adaptor Proteins, Signal Transducing); 0 (Antigens, CD); 0 (IRS1 protein, human); 0 (Insulin Receptor Substrate Proteins); 0 (Nck protein); 0 (Oncogene Proteins); 0 (Shc Signaling Adaptor Proteins); EC 2.7.10.1 (INSR protein, human); EC 2.7.10.1 (Receptor, Insulin)
[Em] Mês de entrada:1610
[Cu] Atualização por classe:171030
[Lr] Data última revisão:
171030
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160215
[St] Status:MEDLINE
[do] DOI:10.1007/s11033-016-3951-9


  6 / 47 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
PubMed Central Texto completo
Texto completo
[PMID]:26871809
[Au] Autor:Nijim Y; Awni Y; Adawi A; Bowirrat A
[Ad] Endereço:From the Pediatric and Neonatal Department, EMMS Nazareth-The Nazareth Hospital, Galilee Medical School-Bar-Ilan University (YN); Orthopedic Medicine, Medical Consulting Center, Nazareth Towers, General Medical Services "Sheruti Briut Clalit," Galilee Medical School-Bar-Ilan University (YA); Pediatric and Neonatal Department, EMMS Nazareth-The Nazareth Hospital, Galilee Medical School, Galilee Medical School-Bar-Ilan University (AA); and Clinical Neuroscience, Neuropsychopharmacology & Population Genetics, Research Center, EMMS Hospital, Nazareth-The Nazareth Hospital (AB), Israel.
[Ti] Título:Classic Case Report of Donohue Syndrome (Leprechaunism; OMIM *246200): The Impact of Consanguineous Mating.
[So] Source:Medicine (Baltimore);95(6):e2710, 2016 Feb.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Donohue syndrome ([DS]; leprechaunism) describes a genetic autosomal recessive disorder that results from the presence of homozygous or compound heterozygous mutations in the insulin receptor gene (INSR; 19p13.3-p13.2).Donohue syndrome is associated with a fatal congenital form of dwarfism with features of intrauterine and postnatal growth retardation, exaggerated hyperglycemia with hyperinsulinism and dysmorphic abnormalities.We present a case of DS owing to the rarity of this syndrome (1 case in every million births). We discuss how the disease presents, its genetic underpinning, and its prevention.The case was encountered in an Arab male born on 1 September, 2014, for consanguineous parents. The delivery was via cesarean section at 37 weeks gestation due to severe intrauterine growth restriction and nonprogress labor term. The patient was admitted to the Neonatal Intensive Care Unit due to infection, and jaundice. Dysmorphic features, abnormalities of the craniofacial region, low birth weight, skin abnormalities, abdominal distension and hypertrichosis were observed. Laboratory examinations showed, hyperinsulinism, increased C-peptide, thrombocytopenia, leucopenia, and anemia.The diagnosis of DS was done based on the combinations of typical dysmorphic characteristics, clinical evaluation, supported by genetic analysis and exaggerated biochemical results. Genetic diagnosis of DS was performed through analysis of DNA via polymerase chain reaction (PCR). A qualitative real-time PCR was used, to monitor the amplification of a targeted DNA molecule during the PCR. Other technique using sequencing of the INSR gene, which permits genetic diagnosis, counseling, and antenatal diagnoses in subsequent pregnancies, were also performed.Treatment of DS is supportive and requires the combined efforts of a multidisciplinary team, which include pediatricians, endocrinologists, dermatologists, and other health care professionals. Currently, treatment with recombinant insulin-like growth factor 1 demonstrates effectiveness, and a combination treatment with insulin-like growth factor binding protein 3 resulted in an increased lifespan.There is a scarcity of genetic information on DS among the Arab population. Consanguinity is one of underlying reasons for the appearance of rare genetic disorders. Inbreeding has long been considered a controversial phenomenon. Genetic counseling and overwhelming the alertness of the negative consequences of consanguinity on public health are warranted.
[Mh] Termos MeSH primário: Síndrome de Donohue/diagnóstico
[Mh] Termos MeSH secundário: Consanguinidade
Síndrome de Donohue/genética
Evolução Fatal
Seres Humanos
Lactente
Recém-Nascido
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1606
[Cu] Atualização por classe:160227
[Lr] Data última revisão:
160227
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:160213
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000002710


  7 / 47 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:26691667
[Au] Autor:Ben Abdelaziz R; Ben Chehida A; Azzouz H; Boudabbous H; Lascols O; Ben Turkia H; Tebib N
[Ad] Endereço:Department of Paediatrics, La Rabta Hospital, Tunis, Tunisia; Tunis El Manar University, Faculty of Medicine of Tunis, Tunisia. Electronic address: rimbenabdelaziz@yahoo.fr.
[Ti] Título:A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome.
[So] Source:Eur J Med Genet;59(1):16-9, 2016 Jan.
[Is] ISSN:1878-0849
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Leprechaunism (Donohue syndrome) and Rabson-Mendenhall syndrome are caused by mutations in the insulin receptor gene and are associated with extreme insulin resistance. Clinically these syndromes appear to represent points on a continuum of severity of receptor dysfunction, rather than completely distinct syndromes. We investigated a Libyan infant with growth retardation, facial dysmorphism (elfin-like features), acanthosis nigricans and hirsutism. Fasting hypoglycaemia and postprandial hyperglycaemia with persistent hyperinsulinemia were found. A novel homozygous missense mutation was found in exon 2, resulting in a substitution of a glycine-132 for a serine in the INSR α-subunit (c.394G > A; p.Gly132Ser). At age ten, he developed diabetes mellitus. At age eleven, patient is still alive with mental retardation and severe growth retardation.
[Mh] Termos MeSH primário: Síndrome de Donohue/genética
Mutação de Sentido Incorreto
Receptor de Insulina/genética
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Análise Mutacional de DNA
Síndrome de Donohue/metabolismo
Seres Humanos
Lactente
Masculino
Dados de Sequência Molecular
Receptor de Insulina/química
Receptor de Insulina/metabolismo
Alinhamento de Sequência
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.10.1 (Receptor, Insulin)
[Em] Mês de entrada:1610
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151223
[St] Status:MEDLINE


  8 / 47 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:26619761
[Au] Autor:Sánchez-Hernández RM; Martín-Frías M; Castaño L; Lamas A; Barrio R
[Ad] Endereço:Unidad de Diabetes Pediátrica, Servicio de Pediatría, Hospital Universitario Ramón y Cajal, Madrid, España. Electronic address: rosamariasanher@gmail.com.
[Ti] Título:Donohue syndrome. Extreme insulin resistance in the neonatal period.
[So] Source:Endocrinol Nutr;63(1):45-6, 2016 Jan.
[Is] ISSN:1579-2021
[Cp] País de publicação:Spain
[La] Idioma:eng; spa
[Mh] Termos MeSH primário: Síndrome de Donohue/fisiopatologia
Resistência à Insulina
[Mh] Termos MeSH secundário: Seres Humanos
Lactente
Recém-Nascido
Masculino
Receptor de Insulina/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.10.1 (Receptor, Insulin)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171026
[Lr] Data última revisão:
171026
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151202
[St] Status:MEDLINE


  9 / 47 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:26555333
[Au] Autor:Termote JU; Breur JM; de Vroede MA
[Ad] Endereço:1Department of Neonatology,Wilhelmina Children's Hospital,University Medical Centre,Utrecht,The Netherlands.
[Ti] Título:Hypertrophic cardiomyopathy in Donohue syndrome.
[So] Source:Cardiol Young;26(4):815-8, 2016 Apr.
[Is] ISSN:1467-1107
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:We report the case of a patient with Donohue syndrome who died of heart failure due to obstructive hypertrophic cardiomyopathy. A literature survey revealed that hypertrophic cardiomyopathy was present in 30% of these patients and was often fatal. Therefore, every patient with Donohue syndrome should be screened for hypertrophic cardiomyopathy.
[Mh] Termos MeSH primário: Cardiomiopatia Hipertrófica/etiologia
Síndrome de Donohue/complicações
[Mh] Termos MeSH secundário: Seres Humanos
Recém-Nascido
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170111
[Lr] Data última revisão:
170111
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151112
[St] Status:MEDLINE
[do] DOI:10.1017/S1047951115002437


  10 / 47 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:26508115
[Au] Autor:Huggard D; Stack T; Satas S; Gorman CO
[Ad] Endereço:Department of Neonatology, University Hospital Limerick, Limerick, Ireland.
[Ti] Título:Donohue syndrome and use of continuous subcutaneous insulin pump therapy.
[So] Source:BMJ Case Rep;2015, 2015 Oct 27.
[Is] ISSN:1757-790X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Donohue syndrome is a rare autosomal recessive condition caused by severe loss-of-function mutations in the insulin receptor (INSR) gene. The diagnosis is made on clinical, biochemical and genetic grounds. Mutations are found on chromosome 19p13.2, and code for mutations in the INSR gene. Treatment is challenging and often unsuccessful, and relies on maintaining normoglycaemia and avoiding fasting; in some patients, recombinant human insulin-like growth factor (rhIGF-1) has been trialled. The prognosis is poor, with most babies dying in infancy. Ethically, it is important to consider the benefit versus burden of treatment, the quality of life of the surviving patient and the parents' wishes, when making decisions regarding withholding or withdrawing care.
[Mh] Termos MeSH primário: Síndrome de Donohue/diagnóstico
Síndrome de Donohue/tratamento farmacológico
Sistemas de Infusão de Insulina
[Mh] Termos MeSH secundário: Tomada de Decisão Clínica/ética
Síndrome de Donohue/complicações
Seres Humanos
Hiperglicemia/tratamento farmacológico
Hiperglicemia/etiologia
Recém-Nascido
Masculino
Mutação
Cuidados Paliativos
Prognóstico
Qualidade de Vida
Receptor de Insulina/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.10.1 (Receptor, Insulin)
[Em] Mês de entrada:1607
[Cu] Atualização por classe:171027
[Lr] Data última revisão:
171027
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151029
[St] Status:MEDLINE



página 1 de 5 ir para página              
   


Refinar a pesquisa
  Base de dados : MEDLINE Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde