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1.
Arch. endocrinol. metab. (Online) ; 68: e230003, 2024. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1533672

ABSTRACT

ABSTRACT Objective: To evaluate the effects of medical education on hospital hyperglycemia on physician's technical knowledge and the quality of medical prescriptions, patient care, and clinical outcomes. Subjects and methods: The intervention included online classes and practical consultations provided by an endocrinologist to medical preceptors and residents of the Department of Internal Medicine. A pretest and a post-test (0 to 10 points) were applied before and after the intervention and patients medical records were reviewed before and after the intervention. The outcomes were improvement in medical knowledge, in the quality of prescriptions for patients in the clinical area, and clinical outcomes. Results: The global mean of correct answers improved with the intervention [before: 6.9 points (±1.7) versus after the intervention: 8.8 points (±1.5) (p < 0.001)]. The number of patients who did not have at least one blood glucose assessment during the entire hospitalization for acute illness decreased from 12.6% before to 2.6% (p < 0.001) after the intervention. There was also a significant reduction in hospital hypoglycemia rates (p < 0.026). The use of sliding-scale insulin as the main treatment was quite low before and after the intervention (2.2% and 0%). After 6 months, medical knowledge did not show significant reduction. Conclusion: Medical education on hospital hyperglycemia can improve medical knowledge and clinical outcomes for patients. The improvement in medical knowledge was maintained after 6 months.

2.
Int J Diabetes Dev Ctries ; 42(4): 787-790, 2022 Oct.
Article in English | MEDLINE | ID: mdl-35495777

ABSTRACT

A patient with Prader-Willi syndrome (PWS), extreme obesity and hyperglycemia had her body weight increased considerably for 6 months, even with exercise and diet programs. Treatment with metformin and empagliflozin (12.5 mg/day) induced a weight loss of 14 kg (-10.3%) for 6 months and the reduction of glycated hemoglobin A1c.

3.
Arch. endocrinol. metab. (Online) ; 65(6): 684-694, Nov.-Dec. 2021. tab, graf
Article in English | LILACS | ID: biblio-1350000

ABSTRACT

ABSTRACT Objectives: To assess the prevalence of psychiatric disorders in patients with type 1 diabetes mellitus (T1D) and to compare patients with and without psychiatric disorder. Materials and methods: We made a cross-sectional study including patients with T1D assisted in the outpatient clinics of the Brazilian National Health System. To assess depression and anxiety, we used the PHQ-9 questionnaire and the DSM-5th edition criteria, respectively. B-PAID evaluated the level of emotional distress associated with diabetes; EAT-26, eating disorders; SCI-R, adherence to the proposed clinical treatment. Results: We analyzed 166 patients aged 33 (22-45.2) years, 53.6% female. The prevalence of depression and anxiety was 20.5% and 40.4%, respectively. HbA1c was worse in the depressed (9.0% vs. 8.4%, p = 0.008), in the anxious ones (9.0% vs. 8.3%, p = 0.012) and in the patients with high levels of B-PAID (8.8 % vs. 8.3 %, p = 0.009). There was no difference in the prevalence of complications related to diabetes. Conclusions: The prevalence of psychiatric disorders and emotional distress related to diabetes was high in our population of T1D patients, and depression and high levels of B-PAID were associated with the worse glycemic control.


Subject(s)
Humans , Male , Female , Diabetes Mellitus, Type 1/complications , Diabetes Mellitus, Type 1/epidemiology , Psychological Distress , Mental Disorders , Cross-Sectional Studies , Depression/etiology , Depression/epidemiology , Glycemic Control
4.
Arch Endocrinol Metab ; 65(6): 684-694, 2021 Nov 24.
Article in English | MEDLINE | ID: mdl-34283902

ABSTRACT

OBJECTIVE: To assess the prevalence of psychiatric disorders in patients with type 1 diabetes mellitus (T1D) and to compare patients with and without psychiatric disorder. METHODS: We made a cross-sectional study including patients with T1D assisted in the outpatient clinics of the Brazilian National Health System. To assess depression and anxiety, we used the PHQ-9 questionnaire and the DSM-5th edition criteria, respectively. B-PAID evaluated the level of emotional distress associated with diabetes; EAT-26, eating disorders; SCI-R, adherence to the proposed clinical treatment. RESULTS: We analyzed 166 patients aged 33 (22-45.2) years, 53.6% female. The prevalence of depression and anxiety was 20.5% and 40.4%, respectively. HbA1c was worse in the depressed (9.0% vs. 8.4%, p = 0.008), in the anxious ones (9.0% vs. 8.3%, p = 0.012) and in the patients with high levels of B-PAID (8.8 % vs. 8.3 %, p = 0.009). There was no difference in the prevalence of complications related to diabetes. CONCLUSION: The prevalence of psychiatric disorders and emotional distress related to diabetes was high in our population of T1D patients, and depression and high levels of B-PAID were associated with the worse glycemic control.


Subject(s)
Diabetes Mellitus, Type 1 , Mental Disorders , Psychological Distress , Cross-Sectional Studies , Depression/epidemiology , Depression/etiology , Diabetes Mellitus, Type 1/complications , Diabetes Mellitus, Type 1/epidemiology , Female , Glycemic Control , Humans , Male
5.
Proc Natl Acad Sci U S A ; 118(19)2021 05 11.
Article in English | MEDLINE | ID: mdl-33941690

ABSTRACT

Alopecia, neurologic defects, and endocrinopathy (ANE) syndrome is a rare ribosomopathy known to be caused by a p.(Leu351Pro) variant in the essential, conserved, nucleolar large ribosomal subunit (60S) assembly factor RBM28. We report the second family of ANE syndrome to date and a female pediatric ANE syndrome patient. The patient presented with alopecia, craniofacial malformations, hypoplastic pituitary, and hair and skin abnormalities. Unlike the previously reported patients with the p.(Leu351Pro) RBM28 variant, this ANE syndrome patient possesses biallelic precursor messenger RNA (pre-mRNA) splicing variants at the 5' splice sites of exon 5 (ΔE5) and exon 8 (ΔE8) of RBM28 (NM_018077.2:c.[541+1_541+2delinsA]; [946G > T]). In silico analyses and minigene splicing experiments in cells indicate that each splice variant specifically causes skipping of its respective mutant exon. Because the ΔE5 variant results in an in-frame 31 amino acid deletion (p.(Asp150_Lys180del)) in RBM28 while the ΔE8 variant leads to a premature stop codon in exon 9, we predicted that the ΔE5 variant would produce partially functional RBM28 but the ΔE8 variant would not produce functional protein. Using a yeast model, we demonstrate that the ΔE5 variant does indeed lead to reduced overall growth and large subunit ribosomal RNA (rRNA) production and pre-rRNA processing. In contrast, the ΔE8 variant is comparably null, implying that the partially functional ΔE5 RBM28 protein enables survival but precludes correct development. This discovery further defines the underlying molecular pathology of ANE syndrome to include genetic variants that cause aberrant splicing in RBM28 pre-mRNA and highlights the centrality of nucleolar processes in human genetic disease.


Subject(s)
Alopecia/metabolism , Cell Nucleolus/metabolism , Endocrine System Diseases/metabolism , Intellectual Disability/metabolism , RNA Splicing , RNA-Binding Proteins/metabolism , Ribosome Subunits, Large/metabolism , Adult , Alopecia/genetics , Brazil , Endocrine System Diseases/genetics , Exons , Female , HEK293 Cells , Hair/metabolism , Humans , Infant , Intellectual Disability/genetics , Male , Pedigree , RNA Precursors/metabolism , RNA Processing, Post-Transcriptional , RNA, Ribosomal/genetics , RNA, Ribosomal/metabolism , Ribosome Subunits, Large/genetics , Saccharomyces cerevisiae , Young Adult
6.
Int J Oncol ; 58(5)2021 05.
Article in English | MEDLINE | ID: mdl-33649842

ABSTRACT

Differentiated thyroid carcinoma (DTC) is the most common malignant neoplasm of the endocrine system. In children and adolescents, DTC usually presents as a more aggressive disease than in the adult population, but patients often have a favourable prognosis, even in cases of advanced disease. Nevertheless, certain patients have persistent or recurrent disease leading to increased morbidity. A significant challenge in the management of DTC is identifying the subgroup of patients with a high risk of unfavourable outcomes. Prognostic factors related to the patient, tumour, and stratification systems (Tumor­Node­Metastasis/American Joint Committee on Cancer, American Thyroid Association risk classification and dynamic risk stratification) are used in an attempt to identify the individuals at increased risk. In the present review, the current risk classification systems applied for paediatric thyroid cancer are discussed, highlighting the major differences between paediatric and adult DTC in pathophysiology, clinical presentation and long­term outcomes. In recent years, genetic markers have also been proposed as prognostic factors for children and adolescents with DTC. Advances in the understanding of the molecular profile of paediatric DTC may aid individualized management, potentially improving diagnosis and treatment. This review article aims to critically review and update the current concepts on DTC management in children and adolescents, with an emphasis on clinical presentation, treatment, risk assessment, follow­up and future perspectives.


Subject(s)
Biomarkers, Tumor/genetics , Thyroid Neoplasms/pathology , Adolescent , Adult , Child , Child, Preschool , Disease Management , Female , Humans , Male , Prognosis , Thyroid Neoplasms/mortality
7.
Mol Genet Genomic Med ; 7(12): e962, 2019 12.
Article in English | MEDLINE | ID: mdl-31595705

ABSTRACT

BACKGROUND: Maturity-onset diabetes of the young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. To date, mutations in 11 genes have been frequently associated with this phenotype. In Brazil, few cohorts have been screened for MODY, all using a candidate gene approach, with a high prevalence of undiagnosed cases (MODY-X). METHODS: We conducted a next-generation sequencing target panel (tNGS) study to investigate, for the first time, a Brazilian cohort of MODY patients with a negative prior genetic analysis. One hundred and two patients were selected, of which 26 had an initial clinical suspicion of MODY-GCK and 76 were non-GCK MODY. RESULTS: After excluding all benign and likely benign variants and variants of uncertain significance, we were able to assign a genetic cause for 12.7% (13/102) of the probands. Three rare MODY subtypes were identified (PDX1/NEUROD1/ABCC8), and eight variants had not been previously described/mapped in genomic databases. Important clinical findings were evidenced in some cases after genetic diagnosis, such as MODY-PDX1/HNF1B. CONCLUSION: A multiloci genetic approach allowed the identification of rare MODY subtypes, reducing the large percentage of MODY-X in Brazilian cases and contributing to a better clinical, therapeutic, and prognostic characterization of these rare phenotypes.


Subject(s)
Diabetes Mellitus, Type 2/genetics , Genetic Testing/methods , High-Throughput Nucleotide Sequencing/methods , Adolescent , Adult , Basic Helix-Loop-Helix Transcription Factors/genetics , Brazil , Cohort Studies , Female , Genetic Predisposition to Disease , Homeodomain Proteins/genetics , Humans , Male , Sequence Analysis, DNA , Sulfonylurea Receptors/genetics , Trans-Activators/genetics , Young Adult
8.
Arch Endocrinol Metab ; 62(1): 55-63, 2018 Feb.
Article in English | MEDLINE | ID: mdl-29694632

ABSTRACT

Objective Our objective was to evaluate gestational weight gain (GWG) patterns and their relation to birth weight. Subjects and methods We prospectively enrolled 474 women with gestational diabetes mellitus (GDM) at a university hospital (Porto Alegre, Brazil, November 2009-May 2015). GWG was categorized according to the 2009 Institute of Medicine guidelines; birth weight was classified as large (LGA) or small (SGA) for gestational age. Adjusted relative risks (aRRs) and 95% confidence intervals (95% CIs) were determined. Results Adequate GWG occurred in 121 women [25.5%, 95% CI: 22, 30%]; excessive, in 180 [38.0%, 95% CI: 34, 43%]; and insufficient, in 173 [36.5%, 95% CI: 32, 41%]. In women with normal body mass index (BMI), the prevalence of SGA was higher in those with insufficient compared to adequate GWG (30% vs. 0%, p < 0.001). In women with BMI ≥ 25 kg/m2, excessive GWG increased the prevalence of LGA [aRR 2.58, 95% CI: 1.06, 6.29] and protected from SGA [aRR 0.25, 95% CI: 0.10, 0.64]. Insufficient vs. adequate GWG did not influence the prevalence of SGA [aRR 0.61, 95% CI: 0.31, 1.22]; insufficient vs. excessive GWG protected from LGA [aRR 0.46, 95% CI: 0.23, 0.91]. Conclusions One quarter of this cohort achieved adequate GWG, indicating that specific ranges have to be tailored for GDM. To prevent inadequate birth weight, excessive GWG in women with higher BMI and less than recommended GWG in normal BMI women should be avoided; less than recommended GWG may be suitable for overweight and obese women.


Subject(s)
Birth Weight/physiology , Diabetes, Gestational/physiopathology , Weight Gain/physiology , Adult , Female , Humans , Infant, Newborn , Pregnancy , Prospective Studies , Socioeconomic Factors
9.
Arch. endocrinol. metab. (Online) ; 62(1): 55-63, Jan.-Feb. 2018. tab
Article in English | LILACS | ID: biblio-887628

ABSTRACT

ABSTRACT Objective Our objective was to evaluate gestational weight gain (GWG) patterns and their relation to birth weight. Subjects and methods We prospectively enrolled 474 women with gestational diabetes mellitus (GDM) at a university hospital (Porto Alegre, Brazil, November 2009-May 2015). GWG was categorized according to the 2009 Institute of Medicine guidelines; birth weight was classified as large (LGA) or small (SGA) for gestational age. Adjusted relative risks (aRRs) and 95% confidence intervals (95% CIs) were determined. Results Adequate GWG occurred in 121 women [25.5%, 95% CI: 22, 30%]; excessive, in 180 [38.0%, 95% CI: 34, 43%]; and insufficient, in 173 [36.5%, 95% CI: 32, 41%]. In women with normal body mass index (BMI), the prevalence of SGA was higher in those with insufficient compared to adequate GWG (30% vs. 0%, p < 0.001). In women with BMI ≥ 25 kg/m2, excessive GWG increased the prevalence of LGA [aRR 2.58, 95% CI: 1.06, 6.29] and protected from SGA [aRR 0.25, 95% CI: 0.10, 0.64]. Insufficient vs. adequate GWG did not influence the prevalence of SGA [aRR 0.61, 95% CI: 0.31, 1.22]; insufficient vs. excessive GWG protected from LGA [aRR 0.46, 95% CI: 0.23, 0.91]. Conclusions One quarter of this cohort achieved adequate GWG, indicating that specific ranges have to be tailored for GDM. To prevent inadequate birth weight, excessive GWG in women with higher BMI and less than recommended GWG in normal BMI women should be avoided; less than recommended GWG may be suitable for overweight and obese women.


Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Adult , Birth Weight/physiology , Weight Gain/physiology , Diabetes, Gestational/physiopathology , Socioeconomic Factors , Prospective Studies
10.
Sao Paulo Med J ; 135(4): 376-382, 2017.
Article in English | MEDLINE | ID: mdl-28793129

ABSTRACT

CONTEXT AND OBJECTIVE:: The prevalence and characteristics of gestational diabetes mellitus (GDM) have changed over time, reflecting the nutritional transition and changes in diagnostic criteria. We aimed to evaluate characteristics of women with GDM over a 20-year interval. DESIGN AND SETTING:: Comparison of two pregnancy cohorts enrolled in different periods, in university hospitals in Porto Alegre, Brazil: 1991 to 1993 (n = 216); and 2009 to 2013 (n = 375). METHODS:: We applied two diagnostic criteria to the cohorts: International Association of Diabetes and Pregnancy Study Groups (IADPSG)/World Health Organization (WHO); and National Institute for Health and Care Excellence (NICE). We compared maternal-fetal characteristics and outcomes between the cohorts and within each cohort. RESULTS:: The women in the 2010s cohort were older (31 ± 7 versus 30 ± 6 years), more frequently obese (29.4% versus 15.2%), with more hypertensive disorders (14.1% versus 5.6%) and at increased risk of cesarean section (adjusted relative risk 1.8; 95% confidence interval: 1.4 - 2.3), compared with those in the 1990s cohort. Neonatal outcomes such as birth weight category and hypoglycemia were similar. In the 1990s cohort, women only fulfilling IADPSG/WHO or only fulfilling NICE criteria had similar characteristics and outcomes; in the 2010s cohort, women only diagnosed through IADPSG/WHO were more frequently obese than those diagnosed only through NICE (33 ± 8 kg/m2 versus 28 ± 6 kg/m2; P < 0.001). CONCLUSION:: The epidemic of obesity seems to have modified the profile of women with GDM. Despite similar neonatal outcomes, there were differences in the intensity of treatment over time. The IADPSG/WHO criteria seemed to identify a profile more associated with obesity.


Subject(s)
Diabetes, Gestational/epidemiology , Hypertension/epidemiology , Obesity/epidemiology , Age Factors , Brazil/epidemiology , Cohort Studies , Female , Humans , Hypertension/complications , Infant, Newborn , Obesity/complications , Pregnancy , Pregnancy Outcome , Prevalence , Risk Factors , Time Factors
11.
São Paulo med. j ; 135(4): 376-382, July-Aug. 2017. tab, graf
Article in English | LILACS | ID: biblio-904095

ABSTRACT

ABSTRACT CONTEXT AND OBJECTIVE: The prevalence and characteristics of gestational diabetes mellitus (GDM) have changed over time, reflecting the nutritional transition and changes in diagnostic criteria. We aimed to evaluate characteristics of women with GDM over a 20-year interval. DESIGN AND SETTING: Comparison of two pregnancy cohorts enrolled in different periods, in university hospitals in Porto Alegre, Brazil: 1991 to 1993 (n = 216); and 2009 to 2013 (n = 375). METHODS: We applied two diagnostic criteria to the cohorts: International Association of Diabetes and Pregnancy Study Groups (IADPSG)/World Health Organization (WHO); and National Institute for Health and Care Excellence (NICE). We compared maternal-fetal characteristics and outcomes between the cohorts and within each cohort. RESULTS: The women in the 2010s cohort were older (31 ± 7 versus 30 ± 6 years), more frequently obese (29.4% versus 15.2%), with more hypertensive disorders (14.1% versus 5.6%) and at increased risk of cesarean section (adjusted relative risk 1.8; 95% confidence interval: 1.4 - 2.3), compared with those in the 1990s cohort. Neonatal outcomes such as birth weight category and hypoglycemia were similar. In the 1990s cohort, women only fulfilling IADPSG/WHO or only fulfilling NICE criteria had similar characteristics and outcomes; in the 2010s cohort, women only diagnosed through IADPSG/WHO were more frequently obese than those diagnosed only through NICE (33 ± 8 kg/m2 versus 28 ± 6 kg/m2; P < 0.001). CONCLUSION: The epidemic of obesity seems to have modified the profile of women with GDM. Despite similar neonatal outcomes, there were differences in the intensity of treatment over time. The IADPSG/WHO criteria seemed to identify a profile more associated with obesity.


RESUMO CONTEXTO E OBJETIVO: Prevalência e características do diabetes mellitus gestacional (DMG) modificaram-se com o tempo, refletindo transição nutricional e diferentes critérios diagnósticos. Nosso objetivo foi avaliar características de gestações com DMG em intervalo de 20 anos. TIPO DE ESTUDO E LOCAL: Comparação de duas coortes gestacionais arroladas em diferentes períodos, em hospitais universitários de Porto Alegre, Brasil: 1991 a 1993 (n = 216) e 2009 a 2013 (n = 375). MÉTODOS: Aplicamos dois critérios diagnósticos às coortes: International Association of Diabetes and Pregnancy Study Groups (IADPSG)/Organização Mundial de Saúde (OMS); e National Institute for Health and Care Excellence (NICE). Comparamos características e desfechos materno-fetais entre as coortes e dentro de cada uma. RESULTADOS: Na coorte dos anos 2010, as mulheres eram mais velhas (31 ± 7 versus 30 ± 6 anos), obesas (29,4% versus 15,2%), apresentaram mais distúrbios hipertensivos (14,1% versus 5,6%) e risco aumentado de cesariana (risco relativo ajustado 1,8; intervalo de confiança de 95% 1,4 - 2,3), comparadas às da coorte de 1990. Desfechos neonatais, como categoria do peso ao nascer e hipoglicemia, foram semelhantes. Na coorte de 1990, essas características e desfechos foram semelhantes nas mulheres que preenchiam apenas um dos critérios; na de 2010, mulheres diagnosticadas apenas pelo IADPSG/OMS eram mais obesas (33 ± 8 kg/m2 versus 28 ± 6 kg/m2, P < 0,001) do que as diagnosticadas apenas pelo NICE. CONCLUSÃO: A epidemia de obesidade parece ter modificado o perfil de mulheres com DMG. Embora desfechos neonatais sejam semelhantes, houve diferenças na intensidade de tratamento ao longo do tempo. O critério da IADPSG/OMS parece identificar um perfil mais associado à obesidade.


Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Diabetes, Gestational/epidemiology , Hypertension/epidemiology , Obesity/epidemiology , Time Factors , Brazil/epidemiology , Pregnancy Outcome , Prevalence , Risk Factors , Cohort Studies , Age Factors , Hypertension/complications , Obesity/complications
12.
Diabetes Res Clin Pract ; 123: 134-142, 2017 Jan.
Article in English | MEDLINE | ID: mdl-28012402

ABSTRACT

AIMS: Maturity-Onset Diabetes of the Young (MODY) comprises a heterogeneous group of monogenic forms of diabetes caused by mutations in at least 14 genes, but mostly by mutations in Glucokinase (GCK) and hepatocyte nuclear factor-1 homeobox A (HNF1A). This study aims to establish a national registry of MODY cases in Brazilian patients, assessing published and unpublished data. METHODS: 311 patients with clinical characteristics of MODY were analyzed, with unpublished data on 298 individuals described in 12 previous publications and 13 newly described cases in this report. RESULTS: 72 individuals had GCK mutations, 9 described in Brazilian individuals for the first time. One previously unpublished novel GCK mutation, Gly178Ala, was found in one family. 31 individuals had HNF1A mutations, 2 described for the first time in Brazilian individuals. Comparisons of GCK probands vs HNF1A: age 16±11 vs 35±20years; age at diagnosis 11±8 vs 21±7years; BMI 19±6 vs 25±6kg/m2; sulfonylurea users 5 vs 83%; insulin users 5 vs 17%; presence of arterial hypertension 0 vs. 33%, all p<0.05. No differences were observed in lipids and C-peptide. CONCLUSIONS: Most MODY cases in Brazil are due to GCK mutations. In agreement with other studied populations, novel mutations are common. Only 14% of patients with familial diabetes carry a HNF1A mutation. Diagnosis of other rare forms of MODY is still a challenge in Brazilian population, as well as adequate strategies to screen individuals for molecular diagnosis.


Subject(s)
Diabetes Mellitus, Type 2/genetics , Hepatocyte Nuclear Factor 1-alpha/genetics , Adolescent , Adult , Brazil , Diabetes Mellitus, Type 2/diagnosis , Female , Humans , Male , Registries , Young Adult
13.
PLoS One ; 11(10): e0164999, 2016.
Article in English | MEDLINE | ID: mdl-27764194

ABSTRACT

BACKGROUND: Gestational diabetes mellitus (GDM) and vitamin D deficiency have been associated with increased risk of adverse perinatal outcomes but the consequences of both conditions simultaneously present in pregnancy have not yet been evaluated. Our objective was to study the influence of vitamin D deficiency in neonatal outcomes of pregnancies with GDM. METHODS: 184 pregnant women with GDM referred to specialized prenatal monitoring were included in this cohort and had blood sampled for 25-hydroxyvitamin D measurement. Vitamin D was measured by chemiluminescence and deficiency was defined as < 20 ng/mL. Participants were followed until puerperium and adverse neonatal outcomes were evaluated. RESULTS: Newborns of women with vitamin D deficiency had higher incidences of hospitalization in intensive care units (ICU) (32 vs 19%, P = 0.048), of hypoglycemia (any, 17.3 vs 7.1%, P = 0.039requiring ICU, 15.3 vs 3.6%, P = 0.008), and were more frequently small for gestational age (SGA) (17.3 vs 5.9%, P = 0.017). After adjustment, relative risk (RR) for hypoglycemia requiring ICU was 3.63 (95%CI 1.09-12.11) and for SGA was 4.32 (95%CI 1.75-10.66). The incidence of prematurity, jaundice and shoulder dystocia was no statistically different between groups. CONCLUSIONS: In this cohort of pregnant women with GDM, vitamin D deficiency was associated with a major increase in the incidence of adverse neonatal outcomes such as SGA newborns and neonatal hypoglycemia.


Subject(s)
Diabetes, Gestational/blood , Vitamin D Deficiency/complications , Vitamin D/analogs & derivatives , Adult , Female , Gestational Age , Humans , Infant, Newborn , Male , Pregnancy , Risk , Vitamin D/blood
14.
Diabetes Res Clin Pract ; 116: 100-4, 2016 Jun.
Article in English | MEDLINE | ID: mdl-27321323

ABSTRACT

Thirty-two patients with diabetes negative for point mutations in GCK and HNF1A underwent further molecular screening of GCK, HNF1A, HNF4A, and HNF1B by MLPA analysis. We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.


Subject(s)
Diabetes Mellitus, Type 2/genetics , Gene Deletion , Hepatocyte Nuclear Factor 1-beta/genetics , Adult , Brazil , Case-Control Studies , Central Nervous System Diseases , Dental Enamel/abnormalities , Diabetes Mellitus, Type 2/diagnosis , Female , Glucokinase/genetics , Hepatocyte Nuclear Factor 1-alpha/genetics , Heterozygote , Humans , Incidental Findings , Kidney Diseases, Cystic , Male , Phenotype
15.
Clin. biomed. res ; 36(4): 192-198, 2016. tab, graf
Article in English | LILACS | ID: biblio-831527

ABSTRACT

Introduction: Gestational diabetes mellitus (GDM) is associated to increased rates of large for gestational age (LGA) newborns and macrosomia. Several charts are used to classify birth weight. Is there an ideal chart to classify newborns of GDM mothers? Methods: We evaluated adequacy of birth weight of 332 neonates born to GDM mothers at Hospital de Clínicas de Porto Alegre, Brazil. Newborns were classified according to gestational age as small (SGA), adequate, or large (LGA) based on four charts: Alexander, Pedreira, INTERGROWTH 21st Project, and SINASC-2012. The latter was built using data from a large national registry of 2012, the Born Alive National Surveillance System (Sistema de Informações de Nascidos Vivos ­ SINASC), which included 2,905.789 birth certificates. Frequencies of SGA and LGA and Kappa agreement were calculated. Results: In non-gender adjusted curves, SGA rates (95% confidence interval) varied from 8% (5-11) to 9% (6-13); LGA rates, from 11% (8-15) to 17% (13-21). For males, SGA rates varied from 3% (1-6%) to 6% (3-11%), and LGA rates, from 18% (13-24%) to 31% (24-38%); for females, SGA rates were from 3% (1-7%) to 10% (6-16%) and LGA rates, from 11% (6-16%) to 19% (13-26%). Kappa results were: ALEXANDER vs. SINASC-2012: 0.80 (0.73-0.88); INTERGROWTH 21st vs. SINASC-2012 (adjusted by sex): 0.62 (0.53-0.71); INTERGROWTH 21st vs. PEDREIRA: 0.71 (0.62-0.79); SINASC-2012 (by sex) vs. PEDREIRA: 0.86 (0.79-0.93). Conclusions: Misclassification has to be taken into account when evaluating newborns of GDM mothers, as LGA rates can almost double depending on the chart used to classify birth weight (AU)


Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Birth Weight , Diabetes, Gestational/epidemiology , Diabetes Complications , Embryonic and Fetal Development , Gestational Age , Pregnancy , Pregnancy Outcome/epidemiology , Reference Values
16.
PLoS One ; 10(8): e0135989, 2015.
Article in English | MEDLINE | ID: mdl-26292213

ABSTRACT

AIMS: Gestational diabetes mellitus (GDM) is a prevalent and potentially serious condition which may put both mothers and neonates at risk. The current recommendation for diagnosis is the oral glucose tolerance test (OGTT). This study aimed to determine the usefulness of HbA1c test as a diagnostic tool for GDM as compared to the traditional criteria based on the OGTT. METHODS: This was a diagnostic test accuracy study. We performed OGTT and HbA1c test in women attending prenatal visits at a tertiary hospital. GDM was defined according to WHO1999 or ADA/WHO 2013 criteria. ROC curve was used to evaluate the diagnostic performance of HbA1c. Sensitivity, specificity and likelihood ratios for different HbA1c cut-off points were calculated. RESULTS: Of the 262 women in the third trimester of gestation enrolled in the study, 86 (33%) were diagnosed with GDM. Only five of these women presented HbA1c ≥48 mmol/mol (6.5%). This cut-off point presented 100% specificity but very low sensitivity (7%). Based on ROC curve, and considering OGTT as the reference criterion, HbA1c ≥40 mmol/mol (5.8%) showed adequate specificity in diagnosing GDM (94.9%) but low sensitivity (26.4%). Unlike, HbA1c values of 31 mmol/mol (5.0%) presented adequate sensitivity (89.7%) but low specificity (32.6%) to detect GDM. For women with HbA1c ≥40 mmol/mol (5.8%), the positive and negative likelihood ratios were 5.14 (95%CI 2.49-10.63) and 0.78 (0.68-0.88), respectively. The post-test probability of GDM was about 40%, representing a 4.0-fold increase in the mean pre-test probability. This cut-off point could eliminate the need for the unpleasant and laborious OGTT tests in almost one third of cases, as 38% of patients with GDM may be diagnosable by HbA1c test alone. CONCLUSIONS: Our results show that combined HbA1c and OGTT measurements may be useful in diagnosing GDM.


Subject(s)
Diabetes, Gestational/diagnosis , Glycated Hemoglobin/analysis , Adult , Diabetes, Gestational/blood , Female , Glucose Tolerance Test , Humans , Pregnancy , Reproducibility of Results , Sensitivity and Specificity , Young Adult
19.
Matern Child Health J ; 19(1): 94-101, 2015 Jan.
Article in English | MEDLINE | ID: mdl-24748216

ABSTRACT

Research into the extra-skeletal functions of vitamin D has been expanding in recent years. During pregnancy, maternal vitamin D status may be of concern because of the key role of this vitamin in fetal skeletal development and due to the association between hypovitaminosis D and adverse maternal-fetal outcomes. Therefore, the objective of this manuscript was to review the maternal-fetal impact of gestational vitamin D deficiency and the benefits of vitamin D supplementation during pregnancy. A literature search was performed in PubMed and Embase employing the following keywords: vitamin D deficiency, pregnancy, 25-hydroxyvitamin D, and hypovitaminosis D. All relevant articles in English language published since 1980 were analysed by the two authors. Neonatal complications derived from vitamin D deficiency include low birth weight, growth restriction, and respiratory tract infection. In the mother, vitamin D deficiency has been associated with altered glucose homeostasis and increased incidence of gestational diabetes mellitus, pre-eclampsia, and bacterial vaginosis. However, the current state of the evidence is controversial for some other endpoints and the actual benefit of vitamin D supplementation in pregnancy remains unclear. Additional longitudinal studies may clarify the actual impact of vitamin D deficiency during pregnancy, and randomised trials are required to define the benefits of vitamin D supplementation in reducing the incidence of adverse outcomes in the mother and infant.


Subject(s)
Pregnancy Complications/epidemiology , Vitamin D Deficiency , Diabetes, Gestational/etiology , Female , Humans , Infant, Low Birth Weight , Infant, Newborn , Male , Pre-Eclampsia/etiology , Pregnancy , Prenatal Care , Respiratory Tract Infections/etiology , Vaginosis, Bacterial/etiology , Vitamin D/administration & dosage , Vitamin D/analogs & derivatives , Vitamin D Deficiency/complications , Vitamin D Deficiency/diagnosis , Vitamin D Deficiency/epidemiology
20.
Rev. AMRIGS ; 58(4): 272-274, out.-dez. 2014.
Article in Portuguese | LILACS | ID: biblio-877688

ABSTRACT

A forma sensitivo-motora axonal aguda da Síndrome de Guillain-Barré (SBG) é uma apresentação rara, a qual pode apresentar um comprometimento neurológico mais grave. O diagnóstico desta morbidade é realizado através da avaliação clínica associada à eletroneuromiografia. Neste artigo, reportamos o caso de um paciente de 13 anos, submetido a medidas de suporte isoladamente, com evolução neurológica favorável. Em crianças e adolescentes, a melhor abordagem terapêutica para esta condição ainda carece de evidência científica (AU)


The acute axonal sensorimotor form of Guillain-Barre Syndrome (GBS) is a rare presentation which may have a more severe neurological impairment. The diagnosis of this condition is made by clinical evaluation associated with electroneuromyography. In this paper we report the case of a 13-year-old patient who underwent supportive measures alone, with a favorable neurological outcome. In children and adolescents, the best therapeutic approach for this condition still lacks scientific evidence (AU)


Subject(s)
Humans , Male , Adolescent , Guillain-Barre Syndrome/physiopathology , Guillain-Barre Syndrome/diagnostic imaging , Motor Neurons/pathology
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