Rimantė Dobrovolskienė

Lithuanian University of Health Sciences

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Ingrida Stankutė

Lithuanian University of Health Sciences

Rasa Verkauskienė

Lithuanian University of Health Sciences

Evalda Danytė

Lithuanian University of Health Sciences

Giedrė Mockevičienė

Hospital of Lithuanian University of Health Sciences Kaunas Clinics

Dalia Marčiulionytė

Lithuanian University of Health Sciences

Valérie Schwitzgebel

University of Geneva

Nijolė Jurgevičienė

Lithuanian University of Health Sciences

Edita Jašinskienė

Lithuanian University of Health Sciences

Dovilė Ražanskaitė-Virbickienė

Lithuanian University of Health Sciences

Bronislava Urbonaitė

Lithuanian University of Health Sciences

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Lithuanian University of Health Sciences

103

Hospital of Lithuanian University of Health Sciences Kaunas Clinics

Kaunas University of Technology

Institute of Endocrinology

Vilnius University

Vilnius University Hospital Santariskiu Klinikos

University Hospital of Geneva

University of Geneva

Lietuvos Bioetikos Komitetas

Hôpital Beau-Séjour

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Diabetinė neuropatija : [mokomoji knyga]

Rimantė Dobrovolskienė Antanas Norkus Jūratė Pečeliūnienė Kęstutis Petrikonis Ingrida Stankutė

Aprobuota Vilniaus universiteto Medicinos fakulteto 2017 06 14 Tarybos posėdyje. Protokolo Nr. (1.1) 150000-TP-6 (626)

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Diabeto savikontrolės žinių įtaka 1 tipo cukriniu diabetu sergančių vaikų ligos kontrolei

Rimantė Dobrovolskienė

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Case report: Looking for relationship between type 1 diabetes and chronic recurrent osteomyelitis: short literature review and case presentation

Frontiers in Endocrinology (2025)

Aušra Šnipaitienė Laura Radzeviciute Kristina Aleknavičienė Rimantė Dobrovolskienė Ingrida Stankutė

Childhood autoimmune disorders involve the immune system attacking its own tissues, leading to varied symptoms, while autoinflammatory disorders result from innate immune system dysregulation, both requiring extensive diagnosis and multidisciplinary management due to their complexity. We present a unique clinical case of a teenager with a combination of autoimmune and autoinflammatory disorders. The initial manifestation of hip pain, coupled with progressive symptoms over several years and findings in multiple magnetic resonance imaging (MRI) scans, culminated in the diagnosis of chronic recurrent multifocal osteomyelitis (CRMO). Subsequently, the patient was diagnosed with type 1 diabetes (T1D), celiac disease, and juvenile idiopathic arthritis.The therapeutic course proved challenging, marked by unsuccessful attempts with nonsteroidal anti-inflammatory drugs (NSAIDs), and biphosphonates. However, a stable clinical status was ultimately achieved upon the introduction of methotrexate, concomitant with insulin therapy for diabetes and the implementation of a gluten-free diet for celiac disease. Our case showed that the combination of autoimmune and autoinflammatory diseases, brought not only a challenging diagnostic process, but also complicated treatment.

Presentation (obstetrics)

10.3389/fendo.2024.1505382

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Systematic Genetic Study of Youth With Diabetes in a Single Country Reveals the Prevalence of Diabetes Subtypes, Novel Candidate Genes, and Response to Precision Therapy

Diabetes (2020)

Ingrida Stankutė Rasa Verkauskienė Jean‐Louis Blouin Philippe Klee Rimantė Dobrovolskienė

Identifying gene variants causing monogenic diabetes (MD) increases understanding of disease etiology and allows for implementation of precision therapy to improve metabolic control and quality of life. Here, we aimed to assess the prevalence of MD in youth with diabetes in Lithuania, uncover potential diabetes-related gene variants, and prospectively introduce precision treatment. First, we assessed all pediatric and most young-adult patients with diabetes in Lithuania (n = 1,209) for diabetes-related autoimmune antibodies. We then screened all antibody-negative patients (n = 153) using targeted high-throughput sequencing of >300 potential candidate genes. In this group, 40.7% had MD, with the highest percentage (100%) in infants (diagnosis at ages 0–12 months), followed by those diagnosed at ages >1–18 years (40.3%) and >18–25 years (22.2%). The overall prevalence of MD in youth with diabetes in Lithuania was 3.5% (1.9% for GCK diabetes, 0.7% for HNF1A, 0.2% for HNF4A and ABCC8, 0.3% for KCNJ11, and 0.1% for INS). Furthermore, we identified likely pathogenic variants in 11 additional genes. Microvascular complications were present in 26% of those with MD. Prospective treatment change was successful in >50% of eligible candidates, with C-peptide >252 pmol/L emerging as the best prognostic factor.

Candidate gene

10.2337/db19-0974

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Pancreatic beta‐cell function dynamics in youth with GCK , HNF1A , and KCNJ11 genes mutations during mixed meal tolerance test

Pediatric Diabetes (2022)

Ingrida Stankutė Rimantė Dobrovolskienė Evalda Danytė Rasa Steponavičiūtė Valérie Schwitzgebel

The aims were (1) to assess beta-cell function in GCK diabetes patients over 2-year period; (2) to evaluate the dynamics of beta-cell function in HNF1A and KCNJ11 patients after treatment optimization; using mixed meal tolerance test (MMTT) as a gold standard for non-invasive beta-cell function assessment.Twenty-two GCK diabetes patients, 22 healthy subjects, 4 patients with HNF1A and 2 with KCNJ11 were recruited. Firstly, beta-cell function was compared between GCK patients versus controls; the dynamics of beta-cell function were assessed in GCK patients with two MMTTs in 2-year period. Secondly, the change of beta-cell function was evaluated in HNF1A and KCNJ11 patients after successful treatment optimization in 2-year period.GCK diabetes patients had lower area under the curve (AUC) of C-peptide (CP), average CP and peak CP compared to controls. Also, higher levels of fasting, average, peak and AUC of glycemia during MMTT were found in GCK patients compared to healthy controls. No significant changes in either CP or glycemia dynamics were observed in GCK diabetes group comparing 1st and 2nd MMTTs. Patients with HNF1A and KCNJ11 diabetes had significantly improved diabetes control 2 years after the treatment was optimized (HbA1c 7.1% vs. 5.9% [54 mmol/mol vs. 41 mmol/mol], respectively, p = 0.028). Higher peak CP and lower HbA1c were found during 2nd MMTT in patients with targeted treatment compared to the 1st MMTT before the treatment change.In short-term perspective, GCK diabetes group revealed no deterioration of beta-cell function. Individualized treatment in monogenic diabetes showed improved beta-cell function.

HNF1A

10.1111/pedi.13404

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Pediatrija: 2 dalis : vadovėlis

Ilona Aldakauskienė Liudmila Antanavičiūtė Sonata Argustaitė Virginija Ašmonienė Robertas Bagdzevičius

[autoriai (tesinys): Kristina Stuikienė, Violeta Rita Sulnienė, Rasa Tamelienė, Eglė Tamulevicienė, Daiva Urbonienė, Nerija Vaicienė-Magistris, Laimutė Vaidelienė, Rasa Verkauskienė, Astra Vitkauskienė, Aristida Ziutelienė, Migla Žėbienė, Sandra Žėkienė]

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Hiperinsulinizmas - chirurginiai ir endokrinologiniai aspektai

Dalius Malcius Giedrius Barauskas Rasa Verkauskienė Rimantė Dobrovolskienė Indrė Majauskaitė

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Psychological adjustment in Lithuanian diabetic children aged 10 to 16 years

Žilvinas Padaiga Bronislava Urbonaitė Dalia Marčiulionytė Vaiva Sadauskaitė Edita Jašinskienė

Lithuanian

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