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1.
Am J Med Sci ; 360(5): 566-574, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32665066

RESUMO

BACKGROUND: Familial dysalbuminemic hyperthyroxinemia (FDH) is a rare autosomal dominant disorder whose clinical characteristics remain incompletely understood, we investigated the role of albumin gene mutation in relation to miscarriage rate in a large pedigree of FDH followed up for 4 years. PATIENTS AND METHODS: The proband and extended family with unexplained miscarriage and hyperthyroxinemia were identified and genotypes in candidate genes and thyroid function tests (TFTs), including changes in TFTs during pregnancy were comprehensively assessed. We also evaluated the development and growth of children in this large FDH pedigree during four years follow-up. RESULT: The R218S variant in the albumin gene was identified in the proband and her relatives with hyperthyroxinemia who were diagnosed as FDH. Among the family members who underwent TFTs, 11 of 17 (65%) had similar changes in levels of thyroid hormone, with an estimated FDH heritability of 86%. Moreover, 32% (95% CI 16-54%) of FDH women experienced miscarriages at a rate that was substantially higher than the spontaneous abortion rate reported in the general population in China (7-14%). During the follow-up, results revealed that free triiodothyronine (fT3) and thyroid stimulating hormone (TSH) levels were normal during the entire gestational period; comparing to their age-adjusted peers, both FDH affected and FDH unaffected children in this pedigree appeared to have lower body weight and height. CONCLUSIONS: Albumin gene variant (R218S) not only causes FDH but also may be associated with a higher risk of miscarriages, although the growth of their children appears not to be affected by the age of 2 years.


Assuntos
Aborto Espontâneo/genética , Filho de Pais com Deficiência , Predisposição Genética para Doença/genética , Variação Genética/genética , Hipertireoxinemia Disalbuminêmica Familiar/genética , Albumina Sérica Humana/genética , Aborto Espontâneo/diagnóstico , Pré-Escolar , Feminino , Seguimentos , Humanos , Hipertireoxinemia Disalbuminêmica Familiar/diagnóstico , Masculino , Linhagem , Gravidez
2.
Nan Fang Yi Ke Da Xue Xue Bao ; 38(5): 591-595, 2018 May 20.
Artigo em Chinês | MEDLINE | ID: mdl-29891457

RESUMO

OBJECTIVE: To investigate the hypoglycemic characteristics of hospitalized elderly patients with type 2 diabetes mellitus (T2DM). METHODS: From January, 2014 to December, 2015, the data of 58 565 blood measurements using a standard blood glucose monitoring system (BGMS) were collected from 1187 cases of patients with type 2 diabetes during hospitalization in the Department of Endocrinology, Guangdong General Hospital (Guangzhou, China). Stratified analyses were conducted by dividing the patients into 3 age groups, namely <45 years group (128 cases), 45-64 years group (594 cases), and ≥65 years group (465 cases). The incidence and time distribution of hypoglycemia in these patients were compared among the 3 age groups. RESULTS: The risk of hypoglycemia increased with age. Compared with those below 45 years of age, the patients beyond or equal to 65 years had a significantly increased hypoglycemic density (0.95% vs 0.40%, P<0.001), a higher proportion of patients with hypoglycemia (28.17% vs 10.94%, P<0.001), and greater patient-days with hypoglycemia (4.48% vs 1.76%, P<0.001). In the elderly patients, hypoglycemia occurred most frequently before dawn, at which time the hypoglycemic density was 2.66% in patients ≥65 years of age, significantly higher than that in patients below 45 years (1.09%, P<0.05) and between 45 and 64 years (1.90%, P<0.05); the proportion of patients with hypoglycemia was also significantly higher in the elderly patients (14.57%) than in those below 45 years (3.77%, P<0.02) and between 45 and 64 years (9.42%, P<0.02). The proportion of patients with recurrent hypoglycemia (≥2 times) was significantly higher in patients ≥65 years (13.33%) than in younger patients (2.34% in <45 years group and 9.43% in 45-64 years group, P<0.05). CONCLUSION: The hypoglycemic risk in hospitalized elderly patients with T2DM is significantly higher than that in younger patients, especially before dawn and in terms of recurrent hypoglycemia. Clinicians should develop differential blood glucose monitoring and management strategies for these elderly patients to improve the clinical safety.


Assuntos
Glicemia/análise , Diabetes Mellitus Tipo 2/sangue , Hipoglicemia/diagnóstico , Pacientes Internados , Adulto , Fatores Etários , Idoso , China/epidemiologia , Humanos , Hipoglicemia/sangue , Hipoglicemia/epidemiologia , Incidência , Pessoa de Meia-Idade , Recidiva , Fatores de Tempo
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