Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 19 de 19
Filtrar
Más filtros

País/Región como asunto
Tipo del documento
País de afiliación
Intervalo de año de publicación
1.
Arch Endocrinol Metab ; 65(4): 436-442, 2021 Nov 03.
Artículo en Inglés | MEDLINE | ID: mdl-34283897

RESUMEN

OBJECTIVE: The aim of the study was to assess the autoimmunity in first degrees relatives (FDR) of patients with type 1 diabetes (T1DM) and the progression to T1DM after 10 years of follow up in the Brazilian population. METHODS: Non-diabetic FDR of T1DM patients were interviewed and blood was drawn for autoantibodies measurement (GADA, IA-2A, IAA, ZnT8A). Serum samples were analyzed by standard radioligand binding assays performed at the Federal University of Rio de Janeiro (GADA, IAA and IA2A), and at the Skäne University Hospital, Sweden (ZnT8A). The FDR were interviewed by phone after 10 years to determine if they had developed T1DM. Descriptive statistical analysis was performed and results were described as means and standard deviation (SD). RESULTS: 81 individuals were analyzed. Thirteen subjects had positive autoantibodies associated with T1DM.10 were positive for 1 autoantibody and 3 subjects were positive for multiple autoantibodies (1 of them showed positivity for 2 autoantibodies - GADA, ZnT8A - and the other two were positive for 3 autoantibodies - GADA, IA2A, ZnT8A). The 3 subjects with multiple positive autoantibodies developed T1DM within 10 years. CONCLUSION: In Brazilian FDR of T1DM patients, the positivity for multiple autoantibodies indicate a greater chance of progression to T1DM, similar to observed in Caucasians. ZnT8A was helpful in the risk assessment for T1DM development.


Asunto(s)
Diabetes Mellitus Tipo 1 , Autoanticuerpos , Biomarcadores , Diabetes Mellitus Tipo 1/genética , Estudios de Seguimiento , Glutamato Descarboxilasa , Humanos , Estudios Retrospectivos
2.
Diabetes Res Clin Pract ; 78(2): 259-62, 2007 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-17478002

RESUMEN

Diabetic ketoacidosis (DKA) may be present at the onset of type 1 diabetes (T1D), increasing both its morbidity and mortality. The aim of this study was to describe the frequency of this complication at the clinical presentation of T1D, as well as possible interfering factors in a multi-ethnic population from Brazil. We have reviewed the medical charts of 545 individuals with T1D diagnosed between 1968 and 2006 from two major local diabetes treatment centers. DKA occurred in 179 patients (32.8%) at the onset of T1D. The frequency of DKA was higher in non-white than white individuals (p<0.0001) and in the younger age groups (

Asunto(s)
Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/etnología , Cetoacidosis Diabética/epidemiología , Adolescente , Adulto , Edad de Inicio , Población Negra , Brasil/epidemiología , Niño , Preescolar , Femenino , Humanos , Masculino , Prevalencia , Población Blanca
3.
Arq Bras Endocrinol Metabol ; 51(9): 1434-47, 2007 Dec.
Artículo en Portugués | MEDLINE | ID: mdl-18209885

RESUMEN

Diabetic ketoacidosis is an acute complication of Diabetes Mellitus characterized by hyperglycemia, metabolic acidosis, dehydration, and ketosis, in patients with profound insulin deficiency. It occurs predominantly in patients with type 1 diabetes and is frequently precipitated by infections, insulin withdrawal or undiagnosed type 1 diabetes. The authors review its pathophysiology, diagnostic criteria and treatment options in adults, as well as its complications.


Asunto(s)
Cetoacidosis Diabética/fisiopatología , Adulto , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 1/fisiopatología , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/fisiopatología , Cetoacidosis Diabética/diagnóstico , Cetoacidosis Diabética/terapia , Humanos
4.
Braz J Infect Dis ; 10(2): 149-53, 2006 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-16878268

RESUMEN

We describe a case of a male patient, 38 years old, HIV-positive (most recent CD4 count about 259/mm(3)), with abdominal pain, nausea, vomiting, anorexia, weight loss, and vespertine high fever with chills. His hemogram showed normocytic and normochromic anemia, with a high erythrocyte sedimentation rate (ESR) and gross granulations in the neutrophils. Transaminases were normal. Bone marrow biopsy evidenced a chronic disease anemia pattern and a lack of infectious agents. Abdominal ultrasound examination showed a normal-size spleen, which exhibited heterogeneous parenchyma and multiple small hypoechoic images, together with small ascites, peripancreatic and para-aortic lymphadenopathy. These findings were confirmed by abdominal CT. The liver was normal in size, but had a hyperechoic image, which was not visualized on CT. Histopathological analysis of one of the multiple abdominal lymph nodes obtained by laparoscopic biopsy exhibited a chronic granulomatous inflammatory process, with caseous necrosis. Tissue sections were positive for BAAR (acid-alcohol-resistant bacillus), and the cultures were positive for Mycobacterium tuberculosis. Anti-tuberculosis treatment was begun, and the patient evolved with improvement of his general state, fever remission and weight gain. Splenic tuberculosis is a rare disease, occurring predominantly in patients in late stages of AIDS and/or disseminated tuberculosis. It is a difficult diagnosis, since there are no specific findings. Hence, complementary examinations, such as abdominal ultrasound/ CT, or fine needle aspiration, are usually necessary for investigation and differential diagnosis. Often, lesion regression after anti-tuberculosis regimens can be seen, and splenectomy is restricted to complicated or refractory disease.


Asunto(s)
Infecciones Oportunistas Relacionadas con el SIDA/diagnóstico , Antituberculosos/uso terapéutico , Tuberculosis Hepática/diagnóstico , Tuberculosis Ganglionar/diagnóstico , Tuberculosis Esplénica/diagnóstico , Infecciones Oportunistas Relacionadas con el SIDA/tratamiento farmacológico , Adulto , Humanos , Masculino , Mycobacterium tuberculosis/aislamiento & purificación , Resultado del Tratamiento , Tuberculosis Hepática/tratamiento farmacológico , Tuberculosis Ganglionar/tratamiento farmacológico , Tuberculosis Esplénica/tratamiento farmacológico
5.
Arch. endocrinol. metab. (Online) ; 65(4): 436-442, July-Aug. 2021. tab, graf
Artículo en Inglés | LILACS | ID: biblio-1339099

RESUMEN

ABSTRACT Objective: The aim of the study was to assess the autoimmunity in first degrees relatives (FDR) of patients with type 1 diabetes (T1DM) and the progression to T1DM after 10 years of follow up in the Brazilian population. Subjects and methods: Non-diabetic FDR of T1DM patients were interviewed and blood was drawn for autoantibodies measurement (GADA, IA-2A, IAA, ZnT8A). Serum samples were analyzed by standard radioligand binding assays performed at the Federal University of Rio de Janeiro (GADA, IAA and IA2A), and at the Skäne University Hospital, Sweden (ZnT8A). The FDR were interviewed by phone after 10 years to determine if they had developed T1DM. Descriptive statistical analysis was performed and results were described as means and standard deviation (SD). Results: 81 individuals were analyzed. Thirteen subjects had positive autoantibodies associated with T1DM.10 were positive for 1 autoantibody and 3 subjects were positive for multiple autoantibodies (1 of them showed positivity for 2 autoantibodies - GADA, ZnT8A - and the other two were positive for 3 autoantibodies - GADA, IA2A, ZnT8A). The 3 subjects with multiple positive autoantibodies developed T1DM within 10 years. Conclusions: In Brazilian FDR of T1DM patients, the positivity for multiple autoantibodies indicate a greater chance of progression to T1DM, similar to observed in Caucasians. ZnT8A was helpful in the risk assessment for T1DM development.


Asunto(s)
Humanos , Diabetes Mellitus Tipo 1 , Autoanticuerpos , Biomarcadores , Estudios Retrospectivos , Estudios de Seguimiento , Glutamato Descarboxilasa
6.
Arch Endocrinol Metab ; 59(2): 112-5, 2015 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-25993672

RESUMEN

OBJECTIVE: Thyroid diseases are common in individuals with type 1 diabetes mellitus (T1DM) and should be investigated annually in these individuals. The aim of this study was to evaluate the frequency of thyroid diseases in first degree relatives (FDR) of patients with T1DM. SUBJECTS AND METHODS: Eighty individuals (40 patients with T1DM and 40 FDR) were interviewed and blood was sampled for thyroid-stimulating hormone (TSH), free thyroxine (FT4) and thyroid peroxidase (TPO) antibodies measurement. Autoantibodies against glutamic acid decarboxylase 65 (GAD65), islet antigen-2 (IA2) and autoantibodies against insulin (AAI) were measured in FDR. RESULTS: We found a similar prevalence of thyroid dysfunction in patients with T1DM and their FDR (22.5% vs. 27.5%; p = 0,79). There were no differences in serum TSH levels (p = 0.29), FT4 (p = 0,45), frequency of abnormal TSH (p = 0.28), positive TPO antibodies (p = 0.13), titers of TPO antibodies (in positive cases) between patients with T1DM and their FDR (p = 0.94). CONCLUSIONS: Thyroid abnormalities seem to be common not only in patients with T1DM but also in their FDR, which suggests that screening strategies for thyroid diseases might also be useful to these individuals.


Asunto(s)
Diabetes Mellitus Tipo 1/genética , Enfermedades de la Tiroides/genética , Adolescente , Adulto , Autoanticuerpos/sangre , Niño , Diabetes Mellitus Tipo 1/epidemiología , Femenino , Humanos , Hipotiroidismo/epidemiología , Hipotiroidismo/genética , Yoduro Peroxidasa/sangre , Masculino , Prevalencia , Enfermedades de la Tiroides/epidemiología , Glándula Tiroides/inmunología , Tirotropina/sangre , Tiroxina/sangre , Adulto Joven
7.
Arq Bras Endocrinol Metabol ; 58(7): 737-43, 2014 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-25372583

RESUMEN

OBJECTIVE: Zinc transporter 8 autoantibodies (ZnT8A) have been poorly studied in non-Caucasian individuals. We aimed to investigate the prevalence of ZnT8 autoantibodies in patients with T1D and their first degree relatives (FDR) from a multiethnic population, as well as its relation with the insulin (INS) or the protein tyrosine phosphatase non-receptor 22 (PTPN22) gene polymorphisms. SUBJECTS AND METHODS: ZnT8A were analyzed in sera from T1D patients (n = 72, mean age of 30.3 ± 11.4 years) of variable duration (15.7 ± 11.8 years) and their FDR (n = 78, mean age of 18.3 ± 9.1 years) by a triple mix Radioligand Binding Assay (RBA) for the ZnT8 autoantibody (ZnT8-RWQ) variants. SNP (single nucleotide polymorphism) for INS and PTPN22 were genotyped. RESULTS: The prevalence of ZnT8A was higher in T1D patients than FDR, for ZnT8TripleA (24% vs. 4%,p = 0.001), ZnT8RA (24% vs. 4%, p < 0.001) and ZnT8QA (15% vs. 3%, p = 0.004). All FDR with ZnT8A (n = 3) had at least another positive antibody. Heterozygosis for PTPN22 was associated with a higher frequency of ZnT8TripleA (p = 0.039) and ZnT8RA (p = 0.038). CONCLUSIONS: ZnT8A is observed in non-Caucasian patients with T1D, even years after the disease onset, as well as in their FDR. In those, there was an overlap between ZnT8A and other T1D antibodies. ZnT8A was associated with PTPN22 polymorphisms. Further longitudinal studies are necessary to elucidate the importance of these findings in the natural history of T1D patients with multiethnic background.


Asunto(s)
Autoanticuerpos/inmunología , Proteínas de Transporte de Catión/inmunología , Diabetes Mellitus Tipo 1/inmunología , Familia/etnología , Adolescente , Adulto , Autoanticuerpos/genética , Brasil/epidemiología , Brasil/etnología , Proteínas de Transporte de Catión/sangre , Proteínas de Transporte de Catión/genética , Niño , Diabetes Mellitus Tipo 1/epidemiología , Diabetes Mellitus Tipo 1/etnología , Diabetes Mellitus Tipo 1/genética , Femenino , Genotipo , Humanos , Insulina/genética , Masculino , Polimorfismo Genético/genética , Prevalencia , Proteína Tirosina Fosfatasa no Receptora Tipo 22/genética , Ensayo de Unión Radioligante , Adulto Joven , Transportador 8 de Zinc
8.
Diabetes Res Clin Pract ; 99(3): e33-6, 2013 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-23347689

RESUMEN

C peptide (CP) was evaluated in 88 individuals with type 1 diabetes, variable disease duration and multiethnic background. Initially, 28 patients had detectable CP, which persisted in 46.2% after 17.4±4 months. CP decline was associated with ethnicity, HbA1c and baseline CP, but not with GADA, PTPN22 or insulin gene polymorphisms.


Asunto(s)
Péptido C/metabolismo , Diabetes Mellitus Tipo 1/etnología , Diabetes Mellitus Tipo 1/metabolismo , Adolescente , Adulto , Edad de Inicio , Población Negra , Niño , Femenino , Hemoglobina Glucada/metabolismo , Humanos , Insulina/genética , Masculino , Población Blanca
9.
Arq Bras Endocrinol Metabol ; 57(1): 57-61, 2013 Feb.
Artículo en Portugués | MEDLINE | ID: mdl-23440100

RESUMEN

OBJECTIVE: To analyze the confirmed or not-confirmed cases of neonatal screening (CH) screened in the Programa "Primeiros Passos", stratifying them into TSH blood-spot (TSH-BS) ranges. MATERIALS AND METHODS: To stratify, in ranges of TSH-BS as a function of TSH serum (TSH-S), the cases called for a confirmatory test from January, 2006 to July, 2009. RESULTS: Around 37% of the confirmed cases (475) showed TSH-F > 9.5 mUi/L, but most of the confirmed cases were in lower TSH-F ranges. Among the unconfirmed cases (4,613), most were found in the lower ranges. There was no TSH-F range exclusive to unconfirmed cases. CONCLUSION: TSH-BS cutoff value used is crucial in the diagnosis of CH and should be low, even if more confirmatory tests are performed. More studies are needed to determine the best cutoff value of TSH-BS for neonatal screening.


Asunto(s)
Hipotiroidismo Congénito/diagnóstico , Tamizaje Neonatal/métodos , Tirotropina/sangre , Biomarcadores/sangre , Brasil , Humanos , Recién Nacido , Programas Nacionales de Salud , Valores de Referencia , Estudios Retrospectivos
10.
Clinics (Sao Paulo) ; 68(1): 123-6, 2013 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-23420171

RESUMEN

OBJECTIVE: To evaluate serum C-peptide in 88 patients from a multiethnic population with Type-1 diabetes and variable disease durations. METHOD: Eighty-eight patients with a mean disease duration of 8.1 +7.6 years were included and underwent C-peptide measurement before and after glucagon stimulation. Chi-squared and Mann Whitney U-tests were used to compare the variables between groups (all two-tailed, α = 0.05). Spearmans correlation coefficient was used to test the association between the continuous variables. Logistic regression was used for the multivariate analysis. Twenty-eight (31.8%) individuals had significantly detectable C-peptide levels after stimuli, particularly those with a shorter disease duration (p<0.001). RESULTS: Patients with detectable C-peptide levels required lower insulin doses (p<0.009) and had similar HbA1C results (p = 0.182) and fewer chronic complications (p = 0.029). CONCLUSION: C-peptide detection was common in Type-1 diabetics, particularly shortly after being diagnosed. This result may have clinical implications.


Asunto(s)
Péptido C/sangre , Diabetes Mellitus Tipo 1/metabolismo , Adolescente , Adulto , Diabetes Mellitus Tipo 1/etnología , Métodos Epidemiológicos , Femenino , Glucagón/farmacología , Humanos , Luminiscencia , Masculino , Factores Sexuales , Factores de Tiempo , Adulto Joven
11.
Diabetes Res Clin Pract ; 102(2): e41-3, 2013 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-24083984

RESUMEN

Anti-parietal cell (APC) antibodies and pernicious anemia (PA) were evaluated in patients with type 1 diabetes (n=75) and in controls. A higher frequency of APC (13.3%) and PA (4%) was found in cases than in controls (p=0.003), associated with other autoimmune diseases (p=0.003), but not with insulin or PTPN22 polymorphisms.


Asunto(s)
Anemia Perniciosa/complicaciones , Autoanticuerpos/sangre , Diabetes Mellitus Tipo 1/complicaciones , Células Parietales Gástricas/inmunología , Adolescente , Adulto , Anemia Perniciosa/sangre , Estudios de Casos y Controles , Diabetes Mellitus Tipo 1/sangre , Etnicidad , Femenino , Humanos , Insulina/genética , Masculino , Proteína Tirosina Fosfatasa no Receptora Tipo 22/genética , Adulto Joven
12.
Arch. endocrinol. metab. (Online) ; 59(2): 112-115, 04/2015. tab
Artículo en Inglés | LILACS | ID: lil-746456

RESUMEN

Objective Thyroid diseases are common in individuals with type 1 diabetes mellitus (T1DM) and should be investigated annually in these individuals. The aim of this study was to evaluate the frequency of thyroid diseases in first degree relatives (FDR) of patients with T1DM. Subjects and methods Eighty individuals (40 patients with T1DM and 40 FDR) were interviewed and blood was sampled for thyroid-stimulating hormone (TSH), free thyroxine (FT4) and thyroid peroxidase (TPO) antibodies measurement. Autoantibodies against glutamic acid decarboxylase 65 (GAD65), islet antigen-2 (IA2) and autoantibodies against insulin (AAI) were measured in FDR. Results We found a similar prevalence of thyroid dysfunction in patients with T1DM and their FDR (22.5% vs. 27.5%; p = 0,79). There were no differences in serum TSH levels (p = 0.29), FT4 (p = 0,45), frequency of abnormal TSH (p = 0.28), positive TPO antibodies (p = 0.13), titers of TPO antibodies (in positive cases) between patients with T1DM and their FDR (p = 0.94). Conclusions Thyroid abnormalities seem to be common not only in patients with T1DM but also in their FDR, which suggests that screening strategies for thyroid diseases might also be useful to these individuals. .


Asunto(s)
Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Adulto Joven , Diabetes Mellitus Tipo 1/genética , Enfermedades de la Tiroides/genética , Autoanticuerpos/sangre , Diabetes Mellitus Tipo 1/epidemiología , Hipotiroidismo/epidemiología , Hipotiroidismo/genética , Yoduro Peroxidasa/sangre , Prevalencia , Enfermedades de la Tiroides/epidemiología , Glándula Tiroides/inmunología , Tirotropina/sangre , Tiroxina/sangre
13.
Arq Bras Endocrinol Metabol ; 53(1): 64-71, 2009 Feb.
Artículo en Portugués | MEDLINE | ID: mdl-19347187

RESUMEN

UNLABELLED: Patients with type 1 diabetes (T1D) may exhibit some residual insulin secretion for many years after their diagnosis. This has been associated with a more favorable prognosis. OBJECTIVE: To analyze insulin secretion in individuals with T1D using C-peptide (CP) response to glucagon and comparing patients with recent onset (<5 years - Group 1) and long-standing disease (>5 years -Group 2). METHODS: Subjects with T1D had their blood sampled before (fasting) and 6 minutes after glucagon infusion for CP, HbA1c and anti-GAD measurement. RESULTS: Forty-three individuals were evaluated, 22 in Group 1 and 21 in Group 2. Preserved insulin secretion (CP >1.5 ng/mL) was observed in 6 (13.9%) and in 8 (18.6%) patients before (CP 1) and after (CP 2) glucagon stimulus, respectively, showing no difference between the groups (p=0.18 and 0.24). CP 1 and CP 2 were detectable (>0.5 ng/dL) in 13 (30.2%) and 18 (41.9%) patients, respectively. Both were more frequent in Group 1 than in Group 2 (p=0.45 for CP1/p=0.001 for CP 2). Similar serum levels where seen between the groups, both before and after stimulus (1.4+/-0.8 vs. 1.2+/-1.0; p=0.69 and 1.8+/-1.5 vs. 1.7+/-0.8; p=0.91). Group 1 presented an inverse correlation between disease duration and CP 2 (R=-0.58; p=0.025). CONCLUSION: A significant number of patients with T1D have detectable residual insulin secretion, especially in the first 5 years of disease. These subjects are an ideal population for clinical trials that target the prevention of beta cell function loss in T1D.


Asunto(s)
Diabetes Mellitus Tipo 1/metabolismo , Insulina/metabolismo , Páncreas/metabolismo , Adolescente , Péptido C/análisis , Péptido C/metabolismo , Distribución de Chi-Cuadrado , Diabetes Mellitus Tipo 1/etnología , Diabetes Mellitus Tipo 1/inmunología , Femenino , Glucagón , Glutamato Descarboxilasa/análisis , Glutamato Descarboxilasa/inmunología , Hemoglobina Glucada/análisis , Hemoglobina Glucada/metabolismo , Humanos , Secreción de Insulina , Masculino , Páncreas/fisiopatología , Factores de Tiempo , Adulto Joven
14.
Arq. bras. endocrinol. metab ; 58(7): 737-743, 10/2014. tab, graf
Artículo en Inglés | LILACS | ID: lil-726253

RESUMEN

Objective Zinc transporter 8 autoantibodies (ZnT8A) have been poorly studied in non-Caucasian individuals. We aimed to investigate the prevalence of ZnT8 autoantibodies in patients with T1D and their first degree relatives (FDR) from a multiethnic population, as well as its relation with the insulin (INS) or the protein tyrosine phosphatase non-receptor 22 (PTPN22) gene polymorphisms. Subjects and methods ZnT8A were analyzed in sera from T1D patients (n = 72, mean age of 30.3 ± 11.4 years) of variable duration (15.7 ± 11.8 years) and their FDR (n = 78, mean age of 18.3 ± 9.1 years) by a triple mix Radioligand Binding Assay (RBA) for the ZnT8 autoantibody (ZnT8-RWQ) variants. SNP (single nucleotide polymorphism) for INS and PTPN22 were genotyped. Results The prevalence of ZnT8A was higher in T1D patients than FDR, for ZnT8TripleA (24% vs. 4%,p = 0.001), ZnT8RA (24% vs. 4%, p < 0.001) and ZnT8QA (15% vs. 3%, p = 0.004). All FDR with ZnT8A (n = 3) had at least another positive antibody. Heterozygosis for PTPN22 was associated with a higher frequency of ZnT8TripleA (p = 0.039) and ZnT8RA (p = 0.038). Conclusions ZnT8A is observed in non-Caucasian patients with T1D, even years after the disease onset, as well as in their FDR. In those, there was an overlap between ZnT8A and other T1D antibodies. ZnT8A was associated with PTPN22 polymorphisms. Further longitudinal studies are necessary to elucidate the importance of these findings in the natural history of T1D patients with multiethnic background. .


Objetivo Os autoanticorpos transportadores de zinco 8 (ZnT8A) foram pouco estudados em indivíduos não caucasianos. Nosso objetivo foi investigar a prevalência de autoanticorpos ZnT8 em pacientes com T1D e seus parentes de primeiro grau (PPG) em uma população multiétnica, assim como a sua relação com os polimorfismos genéticos da insulina (INS) ou proteína tirosina fosfatase não receptora tipo 22 (PTPN22). Sujeitos e métodos ZnT8A foram analisados no soro de pacientes com T1D (n = 72, idade média de 30,3 ± 11,4 anos) de duração variável (15,7 ± 11,8 anos) e seus PPG (n = 72, idade média de 30,3 ± 11,4 anos) usando-se um ensaio de competição com radioligantes (RBA) para variantes dos autoanticorpos ZnT8 (ZnT8-RWQ). Os polimorfismos de nucleotídeo único para a INS e PTPN22 foram genotipados. Resultados A prevalência de ZnT8A foi mais alta em pacientes T1D do que nos PPG, para ZnT8TriploA (24% contra 4%, p = 0,001), ZnT8RA (24% contra 4%, p < 0,001) e ZnT8QA (15% contra 3%, p = 0,004). Todos os PPG com ZnT8A (n = 3) apresentaram positividade para pelo menos outro anticorpo. A heterozigose para PTPN22 foi associada a uma frequência mais alta de ZnT8TriploA (p = 0,039) e de ZnT8RA (p = 0,038). Conclusões Os ZnT8A foram observados em pacientes não caucasianos com T1D, mesmo depois de anos do início da doença, assim como em seus PPG. Nos parentes, houve uma sobreposição entre os ZnT8A e outros anticorpos para T1D. Os ZnT8A mostraram-se associados aos polimorfismos PTPN22. São necessários outros estudos longitudinais para se elucidar a importância desses achados na história natural de pacientes com T1D com antecedentes étnicos variados. .


Asunto(s)
Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Adulto Joven , Autoanticuerpos/inmunología , Proteínas de Transporte de Catión/inmunología , Diabetes Mellitus Tipo 1/inmunología , Familia/etnología , Autoanticuerpos/genética , Brasil/epidemiología , Brasil/etnología , Proteínas de Transporte de Catión/sangre , Proteínas de Transporte de Catión/genética , Diabetes Mellitus Tipo 1/epidemiología , Diabetes Mellitus Tipo 1/etnología , Diabetes Mellitus Tipo 1/genética , Genotipo , Insulina/genética , Prevalencia , Polimorfismo Genético/genética , /genética , Ensayo de Unión Radioligante
15.
Arq. bras. endocrinol. metab ; 57(1): 57-61, fev. 2013. graf
Artículo en Portugués | LILACS | ID: lil-665763

RESUMEN

OBJETIVO: Analisar casos de hipotireoidismo congênito (HC) confirmados ou não, triados pelo Programa "Primeiros Passos", estratificando-os em faixas de TSH em filtro (TSH-F). MATERIAIS E MÉTODOS: Estratificar, em faixas de TSH-F em função do TSH em soro (TSH-S), os casos convocados para teste confirmatório de janeiro/2006 a julho/2009. RESULTADOS: Cerca de 37% dos casos confirmados (475) apresentaram TSH-F > 9,5 mUi/L, mas a maioria dos casos confirmados estava nas faixas de TSH-F mais baixas. Entre os casos não confirmados (4.613), a maior parte se encontrava nas faixas mais baixas. Não houve faixa de TSH-F exclusiva dos casos não confirmados. CONCLUSÃO: O valor de corte do TSH-F utilizado é fundamental no diagnóstico do HC e deve ser baixo, mesmo que sejam realizados mais testes confirmatórios. Mais estudos são necessários para determinar o melhor valor de corte de TSH-F para triagem neonatal.


OBJECTIVE: To analyze the confirmed or not-confirmed cases of neonatal screening (CH) screened in the Programa "Primeiros Passos", stratifying them into TSH blood-spot (TSH-BS) ranges. MATERIALS AND METHODS: To stratify, in ranges of TSH-BS as a function of TSH serum (TSH-S), the cases called for a confirmatory test from January, 2006 to July, 2009. RESULTS: Around 37% of the confirmed cases (475) showed TSH-F > 9.5 mUi/L, but most of the confirmed cases were in lower TSH-F ranges. Among the unconfirmed cases (4,613), most were found in the lower ranges. There was no TSH-F range exclusive to unconfirmed cases. CONCLUSION: TSH-BS cutoff value used is crucial in the diagnosis of CH and should be low, even if more confirmatory tests are performed. More studies are needed to determine the best cutoff value of TSH-BS for neonatal screening.


Asunto(s)
Humanos , Recién Nacido , Hipotiroidismo Congénito/diagnóstico , Tamizaje Neonatal/métodos , Tirotropina/sangre , Brasil , Biomarcadores/sangre , Programas Nacionales de Salud , Valores de Referencia , Estudios Retrospectivos
16.
Arq. bras. endocrinol. metab ; 53(1): 64-71, fev. 2009. graf, tab
Artículo en Portugués | LILACS | ID: lil-509867

RESUMEN

Os pacientes com diabetes melito tipo 1 (DM1) podem apresentar secreção residual de insulina por longos períodos, o que tem sido associado a prognóstico mais favorável. OBJETIVO: Avaliar a secreção de insulina por meio da dosagem de peptídeo C (PC) em pacientes com DM1 de curta (<5 anos; grupo 1) e longa (> 5 anos; grupo 2) duração da doença. PACIENTES E MÉTODOS: Voluntários com DM1 coletaram sangue em jejum e 6 minutos após a infusão de glucagon para dosagem de PC, HbA1c e anti-GAD. RESULTADOS: Foram avaliados 43 pacientes, 22 no grupo 1 e 21 no grupo 2. Secreção de insulina preservada (PC > 1,5 ng/mL) foi identificada em seis (13,9 por cento) e oito (18,6 por cento) casos nas coletas basal (PC1) e após estímulo (PC2), sem diferença entre os grupos (p = 0,18 e 0,24). PC1 foi detectável (> 0,5 ng/mL) em 13 (30,2 por cento) e PC2 em 18 (41,9 por cento) casos, mais frequentes no grupo 1 do que no 2 (p = 0,045 para PC1/p = 0,001 para PC2). Os títulos de PC1 (1,4 ±0,8 versus 1,2 ±1,0; p = 0,69) ou PC2 (1,8 ±1,5 versus 1,7 ±0,8; p = 0,91) não diferiram entre os grupos. No grupo 1 houve correlação inversa entre tempo de doença e PC2 (R = -0,58; p = 0,025). CONCLUSÃO: Uma proporção significativa dos pacientes com DM1 apresenta secreção residual de insulina, especialmente nos primeiros cinco anos da doença. Tais indivíduos representam a população ideal para estudos visando à prevenção secundária da doença.


Patients with type 1 diabetes (T1D) may exhibit some residual insulin secretion for many years after their diagnosis. This has been associated with a more favorable prognosis. OBJECTIVE: To analyze insulin secretion in individuals with T1D using C-peptide (CP) response to glucagon and comparing patients with recent onset (<5 years - Group 1) and long-standing disease (>5 years -Group 2). METHODS: Subjects with T1D had their blood sampled before (fasting) and 6 minutes after glucagon infusion for CP, HbA1c and anti-GAD measurement. RESULTS: Forty-three individuals were evaluated, 22 in Group 1 and 21 in Group 2. Preserved insulin secretion (CP >1.5 ng/mL) was observed in 6 (13.9 percent) and in 8 (18.6 percent) patients before (CP 1) and after (CP 2) glucagon stimulus, respectively, showing no difference between the groups (p=0.18 and 0.24). CP 1 and CP 2 were detectable (>0.5 ng/dL) in 13 (30.2 percent) and 18 (41.9 percent) patients, respectively. Both were more frequent in Group 1 than in Group 2 (p=0.45 for CP1/p=0.001 for CP 2). Similar serum levels where seen between the groups, both before and after stimulus (1.4±0.8 vs. 1.2±1.0; p=0.69 and 1.8±1.5 vs. 1.7±0.8; p=0.91). Group 1 presented an inverse correlation between disease duration and CP 2 (R=-0.58; p=0.025). CONCLUSION: A significant number of patients with T1D have detectable residual insulin secretion, especially in the first 5 years of disease. These subjects are an ideal population for clinical trials that target the prevention of â cell function loss in T1D.


Asunto(s)
Adolescente , Femenino , Humanos , Masculino , Adulto Joven , Diabetes Mellitus Tipo 1/metabolismo , Insulina , Páncreas , Péptido C/análisis , Péptido C/metabolismo , Distribución de Chi-Cuadrado , Diabetes Mellitus Tipo 1/etnología , Diabetes Mellitus Tipo 1/inmunología , Glucagón , Glutamato Descarboxilasa/análisis , Glutamato Descarboxilasa/inmunología , Hemoglobina Glucada/análisis , Hemoglobina Glucada/metabolismo , Páncreas/fisiopatología , Factores de Tiempo , Adulto Joven
17.
Arq. bras. endocrinol. metab ; 51(9): 1434-1447, dez. 2007. ilus, tab
Artículo en Portugués | LILACS | ID: lil-471763

RESUMEN

A cetoacidose diabética é uma complicação aguda do Diabetes Mellitus (DM) caracterizada por hiperglicemia, acidose metabólica, desidratação e cetose, na vigência de deficiência profunda de insulina. Acomete principalmente pacientes com DM tipo 1 e geralmente é precipitada por condições infecciosas, uso inadequado de insulina ou desconhecimento do diagnóstico de diabetes. Os autores revisam mecanismos fisiopatológicos, critérios diagnósticos e opções terapêuticas do distúrbio em adultos, bem como suas possíveis complicações.


Diabetic ketoacidosis is an acute complication of Diabetes Mellitus characterized by hyperglycemia, metabolic acidosis, dehydration, and ketosis, in patients with profound insulin deficiency. It occurs predominantly in patients with type 1 diabetes and is frequently precipitated by infections, insulin withdrawal or undiagnosed type 1 diabetes. The authors review its pathophysiology, diagnostic criteria and treatment options in adults, as well as its complications.


Asunto(s)
Adulto , Humanos , Cetoacidosis Diabética/fisiopatología , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 1/fisiopatología , /complicaciones , /diagnóstico , /fisiopatología , Cetoacidosis Diabética/diagnóstico , Cetoacidosis Diabética/terapia
18.
RBM rev. bras. med ; 68(4)abr. 2011.
Artículo en Portugués | LILACS | ID: lil-594879

RESUMEN

A síndrome de Cushing (SC) é definida como um conjunto de achados decorrentes de um estado crônico de hipercortisolismo, seja de origem endógena ou exógena. Nos casos de etiologia exógena a causa é evidente, secundária ao uso de compostos com ação corticoides. Já no caso de SC de origem endógena, por vezes, a determinação da etiologia do quadro é um desafio aos generalistas e até mesmo aos endocrinologistas. Assim, pode-se acabar cometendo grandes equívocos durante a investigação, caso uma sequência apropriada para a solicitação dos exames complementares não seja seguida, atribuindo-se erroneamente, por exemplo, a etiologia do quadro a um incidentaloma (seja hipofisário e/ou adrenal). Desse modo, este artigo de revisão traz de forma sucinta e clara uma proposta de rotina a ser seguida na investigação diagnóstica de pacientes com quadro clínico-laboratorial compatível com SC.

19.
Braz. j. infect. dis ; 10(2): 149-153, Apr. 2006. ilus
Artículo en Inglés | LILACS | ID: lil-431989

RESUMEN

We describe a case of a male patient, 38 years old, HIV-positive (most recent CD4 count about 259/mm³), with abdominal pain, nausea, vomiting, anorexia, weight loss, and vespertine high fever with chills. His hemogram showed normocytic and normochromic anemia, with a high erythrocyte sedimentation rate (ESR) and gross granulations in the neutrophils. Transaminases were normal. Bone marrow biopsy evidenced a chronic disease anemia pattern and a lack of infectious agents. Abdominal ultrasound examination showed a normal-size spleen, which exhibited heterogeneous parenchyma and multiple small hypoechoic images, together with small ascites, peripancreatic and para-aortic lymphadenopathy. These findings were confirmed by abdominal CT. The liver was normal in size, but had a hyperechoic image, which was not visualized on CT. Histopathological analysis of one of the multiple abdominal lymph nodes obtained by laparoscopic biopsy exhibited a chronic granulomatous inflammatory process, with caseous necrosis. Tissue sections were positive for BAAR (acid-alcohol-resistant bacillus), and the cultures were positive for Mycobacterium tuberculosis. Anti-tuberculosis treatment was begun, and the patient evolved with improvement of his general state, fever remission and weight gain. Splenic tuberculosis is a rare disease, occurring predominantly in patients in late stages of AIDS and/or disseminated tuberculosis. It is a difficult diagnosis, since there are no specific findings. Hence, complementary examinations, such as abdominal ultrasound/ CT, or fine needle aspiration, are usually necessary for investigation and differential diagnosis. Often, lesion regression after anti-tuberculosis regimens can be seen, and splenectomy is restricted to complicated or refractory disease.


Asunto(s)
Adulto , Humanos , Masculino , Infecciones Oportunistas Relacionadas con el SIDA/diagnóstico , Antituberculosos/uso terapéutico , Tuberculosis Hepática/diagnóstico , Tuberculosis Ganglionar/diagnóstico , Tuberculosis Esplénica/diagnóstico , Infecciones Oportunistas Relacionadas con el SIDA/tratamiento farmacológico , Mycobacterium tuberculosis/aislamiento & purificación , Resultado del Tratamiento , Tuberculosis Hepática/tratamiento farmacológico , Tuberculosis Ganglionar/tratamiento farmacológico , Tuberculosis Esplénica/tratamiento farmacológico
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA