The role of intermittent continuous glucose monitoring in a successful outpatient transition from insulin to glibenclamide in a patient with transient neonatal diabetes

Lyra, Arthur; Ferreira, Fernanda Rodrigues; Moisés, Regina Célia Santiago; Noronha, Renata Maria de; Calliari, Luís Eduardo

doi:10.20945/2359-3997000000484

Cited by 4 publications

(7 citation statements)

References 16 publications

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“…4 Approximately, half of these cases will consist of permanent NDM (PNDM) requiring lifelong treatment to control hyperglycemia. In the other half, NDM will go into remission within [13][14][15][16][17][18] weeks and is referred to as transient NDM (TNDM). 1 Notwithstanding, recurrence may occur in approximately 50% of the TNDM cases, usually in late childhood or at puberty.…”

Section: Introductionmentioning

confidence: 99%

“…5 Since this is a rare disease, few studies have been conducted on NDM and EOD in Brazil. Over the past 15 years, [7][8][9][10][11][12][13][14][15][16] some case reports have been published, but a series such as the present one had yet to be described. This study, conducted with a large cohort of Brazilian patients with NDM or EOD, aimed to perform molecular genetic diagnosis to identify the causative genes in order to adjust treatment and follow-up in accordance with the genetic findings and also to provide genetic counseling for the families.…”

Section: Introductionmentioning

confidence: 99%

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Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil

et al. 2022

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Neonatal diabetes mellitus (NDM) is defined as the occurrence of severe hyperglycemia in infants under 6 months old and may be permanent (PNDM) or transient (TNDM).When diabetes is diagnosed at 6-12 months of age (early onset diabetes [EOD]), the etiology may be monogenic; however, most cases consist of type 1 diabetes mellitus (T1DM). Molecular diagnosis was determined in a cohort of 35 unrelated Brazilian patients with NDM or EOD based on targeted next-generation sequencing panel and/or chromosome 6q24 abnormalities. The impact of genetic testing on treatment and follow-up was evaluated. Overall, 24 patients had NDM: with 18 (75.0%) having PNDM, 5 TNDM (20.8%) and 1 case in which this information was unknown. Eleven patients had EOD. Genetic testing was positive in 20/24 patients with NDM (83.3%) and in 18.2% of cases of EOD. The commonest causes were ATP-sensitive potassium (KATP) channel genes, and GCK and IPEX mutations (37.1%, 11.4% and 5.7%, respectively). Patients with PNDM due to KCNJ11 and ABCC8 mutations transitioned successfully to sulfonylureas in almost 60% of cases, reinforcing the benefit of performing genetic testing in NDM as early as possible. This report refers to the largest series of cases of NDM (TNDM and PNDM) and EOD in Brazil in which patients were submitted to molecular investigation and in which the clinical impact of genetic diagnosis was also evaluated.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil

et al. 2022

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“…ADCY1, RAB3A, and RAPGEF4 switch genes identified in F-asymAD play a key role in pancreatic β-cell insulin secretion ( Arora et al, 2012 ; Kitaguchi et al, 2013 ; Gucek et al, 2019 ; Zummo et al, 2022 ). Mutations in ABCC8 are associated with maturity-onset diabetes of the young (MODY) ( Zhang Y. et al, 2022 ), neonatal diabetes ( Lyra et al, 2022 ), and severe congenital hyperinsulinism ( Reyes Diaz et al, 2022 ). Together, these results suggest that impaired insulin signaling is an important trigger of neurodegeneration among females and may explain the greater prevalence of comorbidities, including cardiovascular disease in females with AD.…”

Section: Discussionmentioning

confidence: 99%

Sex-specific transcriptional rewiring in the brain of Alzheimer’s disease patients

Santiago¹,

Quinn²,

Potashkin

2022

Front. Aging Neurosci.

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Sex-specific differences may contribute to Alzheimer’s disease (AD) development. AD is more prevalent in women worldwide, and female sex has been suggested as a disease risk factor. Nevertheless, the molecular mechanisms underlying sex-biased differences in AD remain poorly characterized. To this end, we analyzed the transcriptional changes in the entorhinal cortex of symptomatic and asymptomatic AD patients stratified by sex. Co-expression network analysis implemented by SWItchMiner software identified sex-specific signatures of switch genes responsible for drastic transcriptional changes in the brain of AD and asymptomatic AD individuals. Pathway analysis of the switch genes revealed that morphine addiction, retrograde endocannabinoid signaling, and autophagy are associated with both females with AD (F-AD) and males with (M-AD). In contrast, nicotine addiction, cell adhesion molecules, oxytocin signaling, adipocytokine signaling, prolactin signaling, and alcoholism are uniquely associated with M-AD. Similarly, some of the unique pathways associated with F-AD switch genes are viral myocarditis, Hippo signaling pathway, endometrial cancer, insulin signaling, and PI3K-AKT signaling. Together these results reveal that there are many sex-specific pathways that may lead to AD. Approximately 20–30% of the elderly have an accumulation of amyloid beta in the brain, but show no cognitive deficit. Asymptomatic females (F-asymAD) and males (M-asymAD) both shared dysregulation of endocytosis. In contrast, pathways uniquely associated with F-asymAD switch genes are insulin secretion, progesterone-mediated oocyte maturation, axon guidance, renal cell carcinoma, and ErbB signaling pathway. Similarly, pathways uniquely associated with M-asymAD switch genes are fluid shear stress and atherosclerosis, FcγR mediated phagocytosis, and proteoglycans in cancer. These results reveal for the first time unique pathways associated with either disease progression or cognitive resilience in asymptomatic individuals. Additionally, we identified numerous sex-specific transcription factors and potential neurotoxic chemicals that may be involved in the pathogenesis of AD. Together these results reveal likely molecular drivers of sex differences in the brain of AD patients. Future molecular studies dissecting the functional role of these switch genes in driving sex differences in AD are warranted.

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“…The diagnosis of monogenic diseases has been the subject of increasing investigation, since for many years these diseases were diagnosed and treated as DM1 and DM2 (KOMAZEC J. et al, 2019). The first step towards an accurate diagnostic definition is clinical suspicion, which often proves to be a challenge (TOSUR M., PHILIPSON L.H., 2022); LYRA A. et al, 2022). According to Lyra A. et al (2022), the Personalized Medicine for Diabetes Program at the University of Maryland conducted a study interviewing patients diagnosed with MODY, and the main complaint among them was the lack of knowledge of health professionals about this pathology.…”

Section: Precision Medicine and Diagnosis Of Single Gene Diabetesmentioning

confidence: 99%

“…The first step towards an accurate diagnostic definition is clinical suspicion, which often proves to be a challenge (TOSUR M., PHILIPSON L.H., 2022); LYRA A. et al, 2022). According to Lyra A. et al (2022), the Personalized Medicine for Diabetes Program at the University of Maryland conducted a study interviewing patients diagnosed with MODY, and the main complaint among them was the lack of knowledge of health professionals about this pathology. This highlights the crucial importance of establishing a screening method to facilitate the diagnosis and treatment of these diseases.…”

Section: Precision Medicine and Diagnosis Of Single Gene Diabetesmentioning

confidence: 99%

Precision Medicine and Monogenic Diabetes: Advances, Challenges, and Future Perspectives

Souza,

Bernabé,

Vieira

et al. 2023

JHS

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Objective: Address recent advances in precision medicine in the diagnosis and treatment of monogenic diabetes, including MODY, neonatal diabetes and rare forms. Method: The report was prepared between April and May 2023, following the PVO strategy. A search was performed in the PubMed database, using descriptors such as "Monogenic Diabetes", "MODY", "Diabetes Maturity Onset of the Young", "Neonatal Diabetes" and "Precision Medicine". Sixteen articles selected after inclusion and exclusion criteria were analyzed, of the 88 found. Results: Precision medicine is revolutionizing the treatment of single-gene diabetes, identifying specific mutations and providing more effective therapies. Lifestyle and dietary modifications are recommended for HNF1A-MODY, and the use of sulfonylureas may be considered. In the case of NDM, it is possible to transition from insulin to sulfonylureas. In insulin-resistant diabetes, the use of insulin-sensitizing agents is preferred. Early diagnosis and insulin treatment are key for LADA. Precision medicine improves the quality of life for patients with monogenic diabetes. Final considerations: Precision medicine has brought significant advances in the diagnosis and treatment of monogenic diabetes, providing more effective therapies and better quality of life for affected patients. These advances represent an important step towards personalized medicine for singlegene diabetes.

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The role of intermittent continuous glucose monitoring in a successful outpatient transition from insulin to glibenclamide in a patient with transient neonatal diabetes

Cited by 4 publications

References 16 publications

Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil

Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil

Sex-specific transcriptional rewiring in the brain of Alzheimer’s disease patients

Precision Medicine and Monogenic Diabetes: Advances, Challenges, and Future Perspectives

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