Jaskevičiūtė, Vika

Introduction: Eating disorders (ED) and disordered eating behaviors are common in youth with type 1 diabetes (T1D) and may impact metabolic control and quality of life. Objectives: To evaluate differences in ED symptoms based on subjective health perception in adolescents and young adults with T1D. Methods: A cross-sectional study included 57 individuals aged 14–25 years with T1D. Participants were divided into two groups based on self-rated health (good vs poor). ED symptoms were assessed using the Eating Disorder Examination Questionnaire (EDE-Q 6.0), which evaluates behavioral frequency and attitudinal subscales over the past 28 days, a higher score reflects either greater severity or frequency. Group comparisons were performed using appropriate statistical tests. Results: Participants with poor self-rated health had significantly higher ED psychopathology. Eating concern (0.5±0.72 vs.1±2.1, p<0.001), shape concern (1.1±1.2 vs 2.8±1.5, p<0.001), weight concern (1.1±1.2 vs 2.6±1.7, p<0.001), and total EDE-Q score (1.1±1.1 vs 2.4±1.5, p<0.001) were all significantly higher. They also reported more binge eating episodes (3.9±6.6 vs 6.5±6.4, p=0.013), episodes with loss of eating control (1.1±3.5 vs 6.3±8.7, p<0.001), and more binge eating days (0.7±0.9 vs 5.4±7.0, p<0.001). Importantly, no significant differences were observed between groups in objective disease-related parameters, including diabetes duration, age at diagnosis, BMI, HbA1c, and time in range. Conclusions: Poor subjective health perception in youth with T1D is strongly associated with increased ED symptomatology, independent of metabolic parameters. Screening for ED should include patient-reported health perception as a potential risk indicator.

Introduction: Disordered eating behaviors in T1D may influence metabolic outcomes, yet their relationships with clinical parameters remain insufficiently characterized. Objectives: To analyze correlations between eating disorders (ED) symptoms and metabolic as well as clinical parameters in youth with T1D. Methods: A cross-sectional analysis of 57 individuals aged 14–25 years with T1D was performed. ED symptoms were assessed using the EDE-Q 6.0 questionnaire. Correlations between EDE-Q scores and BMI, HbA1c, time in range, insulin dose, disease duration, and age at diagnosis were analyzed using correlation coefficients. Results: Higher BMI was significantly associated with increased ED psychopathology, including restraint (r=0.382, p=0.004), eating concern (r=0.314, p=0.018), shape concern (r=0.354, p=0.007), weight concern (r=0.364, p=0.006), total score (r=0.383, p=0.004), binge eating with loss of control (r=0.326, p=0.017), and binge eating days (r=0.389, p=0.004). Compulsive exercise also correlated with BMI (r=0.351, p=0.009). Higher HbA1c was negatively associated with compulsive exercise (r=- 0.363, p=0.032). Time in range was negatively correlated with shape concern (r=-0.350, p=0.029), weight concern (r=-0.327, p=0.042), and binge eating frequency (r=-0.372, p=0.021). Conclusions: ED symptoms in youth with T1D are significantly associated with BMI and glycemic metrics. Higher ED severity correlates with higher BMI and poorer glycemic profiles, highlighting the importance of integrated metabolic and psychological assessment.

Introduction

Adolescents and young adults with type 1 diabetes mellitus (T1DM) are at an increased risk of developing eating disorders (ED) compared to their healthy peers. ED in T1DM patients ranges from 7.0% to 39.3% and is associated with poor glycemic control and impaired psychosocial well-being.

Objectives

To assess the relationship between eating disorder severity and perceived stress in adolescents and young adults with T1DM attending a specialised transition-age diabetes camp.

Methods

Levels of perceived stress and ED were assessed in 29 adolescents and young adults with T1DM (age: 17.1 ± 2.0 years; T1DM duration: 8.9 ± 4.5 years; age at diagnosis: 8.1 ± 4.1 years; HbA1c: 7.5 ± 1.4%; BMI: 23.7 ± 3.9 kg/m2) attending the diabetes camp for transition-age patients. The Perceived Stress Scale (PSS) was used to measure stress levels (higher scores indicate greater perceived stress), and the Eating Disorder Examination Questionnaire (EDE-Q) was used to assess ED severity (higher scores indicate more severe ED symptoms).

Results

Participants were divided into two groups based on PSS scores: low perceived stress (<20, n = 14) and high perceived stress (≥20, n = 15). Those with high perceived stress had significantly higher EDE-Q scores in restraint (P = .004), eating concern (P < .001), shape concern (P < .001), weight concern (P = .002), and global score (P < .001). Additionally, they reported more binge eating episodes with loss of control per month (P = .016). BMI was correlated with EDE-Q restraint (r = 0.377, P = .048), eating concern (r = 0.581, P = .001), global score (r = 0.447, P = .017), and number of compulsive exercise episodes per month (r = 0.389, P = .041). PSS scores were correlated with EDE-Q restraint (r = 0.470, P = .012), eating concern (r = 0.628, P < .001), shape concern (r = 0.628, P < .001), weight concern (r = 0.567, P = .002), and global score (r = 0.652, P < .001).

Conclusions

Adolescents and young adults with T1DM and high perceived stress exhibit higher levels of eating disorder symptoms compared to those with low perceived stress.

Congenital Long QT Syndrome (LQTS) is a genetic disorder affecting cardiac ion channels, leading to prolonged ventricular repolarization and an increased risk of life-threatening arrhythmias such as Torsades de Pointes and sudden cardiac death (SCD). This study aimed to evaluate the clinical and genetic characteristics of pediatric LQTS patients at a single center, identifying common genetic variants, their phenotypic associations, and implications for management. A retrospective analysis was performed on 50 pediatric patients with LQTS diagnosed between 2006 and 2024. The study cohort consisted of 56% males and 44% females, with a mean age of 12.1years (3.64). Median QTc interval was 461 ms (450-492). Genetic testing identified mutations in 34% of patients, including KCNQ1 (64%), KCNH2 (6%), and SCN5A (6%). QTc interval was significantly longer in the pathogenic mutations group (p< 0.05) and mutations correlated with QTc length (r=0.403, p=0.004). Beta-blockers were prescribed for 28% with longer QTc in this group (p=0.011). This study highlights the phenotypic and genotypic diversity of LQTS, emphasizing the role of genetic testing in risk stratification.

TEMOS AKTUALUMAS 1 tipo cukrinis diabetas (1TCD) yra lėtinė liga, reikalaujanti nuolatinės glikemijos kontrolės ir intensyvios savikontrolės, kuri ypač paauglystėje ir jauname amžiuje gali būti susijusi su reikšmingais psichologiniais iššūkiais. Pastaraisiais metais vis dažniau atkreipiamas dėmesys į valgymo sutrikimų, ypač diabulimijos, paplitimą šioje pacientų grupėje. DARBO TIKSLAS (-AI) Įvertinti skirtingų lyčių ir skirtingo kūno masės indekso pacientų, sergančių 1TCD, su 1TCD susijusią gyvenimo kokybę ir valgymo sutrikimų požymių lygį. [...].

Introduction: Adrenocortical carcinoma (ACC) is an extremely rare and aggressive malignancy in children, with an incidence of 0. 1–0. 3 cases per million. Pediatric ACC is often linked to germline TP53 mutations, particularly in Li-Fraumeni syndrome (LFS). We present a case of a 9-year-old girl with ACC, highlighting its aggressive course, treatment challenges, and the role of genetic predisposition.

Case Presentation: A previously healthy 9-year-old girl developed progressive weight gain, facial acne, hirsutism, and fatigue over several months. While on vacation, she experienced seizures, altered consciousness, and hypertension (150/90 mmHg), requiring emergency intubation. Imaging revealed a 10 cm right adrenal mass, and laboratory tests showed significantly elevated cortisol (1626 nmol/l; normal 177–578), testosterone (20. 16 nmol/l; normal 0. 31–1. 94), and DHEA-S levels. MRI suggested a malignant adrenal tumor. She underwent an adrenalectomy, which confirmed an adrenocortical carcinoma (pT2N0). Postoperatively, she required hydrocortisone replacement, and further genetic testing identified a pathogenic TP53 variant, confirming LFS. Adjuvant therapy with mitotane was initiated, but two months post-surgery, abdominal MRI revealed peritoneal metastases. A second surgery removed multiple metastatic lesions, followed by chemotherapy (mitotane, temozolomide, cyclophosphamide). Despite treatment, the disease progressed, with new hepatic and peritoneal metastases. Given limited therapeutic options, pembrolizumab was introduced alongside metyrapone for hypercortisolism control. However, the patient’s condition deteriorated, with persistent tumor progression. At 13 months post-diagnosis, she succumbed to the disease.

Discussion: ACC in children is often diagnosed late due to nonspecific symptoms. In this case, signs of Cushing’s syndrome and virilization were present but not initially recognized. The association with LFS underscores the importance of genetic screening in pediatric ACC cases, as TP53 mutations significantly impact prognosis and treatment strategies. Despite aggressive surgical and systemic therapy, prognosis remains poor, particularly in metastatic disease. Mitotane remains the cornerstone of treatment, but novel approaches, including immunotherapy, are being explored. This case highlights the urgent need for better therapeutic strategies for pediatric ACC, particularly in genetically predisposed patients.

Conclusion: This case illustrates the aggressive nature of ACC in a child with LFS and the challenges in managing this rare malignancy. Early recognition, genetic testing, and novel treatment strategies are crucial for improving outcomes in pediatric ACC.

Introduction. Hypophosphatemic rickets (XLH) is a rare X-linked disorder caused by mutations in the PHEX gene, leading to increased fibroblast growth factor 23 (FGF23) activity, renal phosphate wasting, and impaired bone mineralization. This case highlights the clinical course and multidisciplinary management of a pediatric patient with XLH and concomitant growth hormone (GH) deficiency. Case description. An 11-year-old male presented with short stature (-2.8 SDS), severe leg deformities, and dental anomalies. Despite early diagnosis of vitamin D-resistant rickets at 7 months and treatment with calcitriol and phosphate supplements, growth and skeletal abnormalities persisted. Family history revealed maternal features consistent with XLH. Biochemical investigations confirmed hypophosphatemia, elevated alkaline phosphatase, and normal calcium levels. Genetic testing identified a hemizygous deletion in exon 9 of the PHEX gene, confirming XLH. Additional endocrinological evaluation revealed GH deficiency through suboptimal stimulation test results. The patient received phosphate and α-calcidol supplements alongside growth hormone therapy (0.035 mg/kg/day). Orthopedic interventions addressed progressive genu varum deformities, and dental care targeted recurrent abscesses and enamel hypoplasia. Summary. Over five years, the patient gained 30 cm in height, improved bone alignment, and reduced symptomatology. Long-term follow-up monitors renal function to mitigate the risk of nephrocalcinosis and biochemical markers to optimize phosphate and hormone replacement. Conclusions. This case emphasizes the importance of early diagnosis and personalized, multidisciplinary care in managing XLH with GH deficiency. GH therapy significantly improved linear growth without exacerbating disproportionate limb length. Emerging therapies targeting FGF23, including inhibitors like burosumab, hold promise for further improving clinical outcomes in XLH.

Introduction Multiple epiphyseal dysplasia (MED), or Fairbank disease, is a skeletal dysplasia caused by disorganized enchondral ossification, resulting in short stature, joint pain, and early osteoarthritis [1] . Six genes are linked to MED: five causing autosomal dominant MED (AD-MED: COMP, COL9A1, COL9A2, COL9A3, MATN3) and one causing autosomal recessive MED (rMED: SLC26A2). AD-MED affects about 1 in 10,000 individuals, with COMP variants accounting for at least 66% of cases [2] . Symptoms include fatigue, restricted motion, and periarticular pain in weight-bearing joints, often mimicking rheumatological or neurological diseases [3] . A detailed family history can help identify genetic causes. Radiographic evaluation is essential to detect delayed ossification and changes in epiphyses. We report a case of a child with MED. Case Presentation An 8-year-old girl presented with joint stiffness and gait changes, accompanied by limb fatigue and pain after walking long distances. On physical examination, her height was 135.5 cm (10th–25th percentile), and her weight was 35 kg (90th–97th percentile). She exhibited brachydactyly, finger joint laxity, and had a history of central precocious puberty. Her father had disproportionate short stature, short limbs, brachydactyly, and bilateral grade 4 hip arthrosis. Laboratory tests showed normal kidney/liver function, positive ANA (1:180), and microhematuria. Cystoscopy found no bleeding source. A skeletal X-ray revealed tibial bowing, abnormal pelvis, metaphyseal widening, and spinal curvature. Whole exome sequencing confirmed a heterozygous likely pathogenic COMP variant (c.1760A>T, p.His587Leu) inherited from her father, confirming a diagnosis of Multiple Epiphyseal Dysplasia (MED). Discussion MED is a genetically complex condition that often presents with vague and overlapping symptoms, making it challenging to identify early [4]. Imaging remains an essential tool, helping pinpoint characteristic skeletal abnormalities, further differentiating MED from other conditions. Conclusions This case underscores the importance of combining genetic testing with clinical and radiographic evaluations to achieve an accurate MED diagnosis. While MED has no cure or specific treatments that alter its course, early recognition allows for more targeted management strategies.

Introduction Hemoptysis is rare in children unless the bleeding is substantial. Young children tend to swallow their sputum, making diagnosis challenging. When evaluating a child with blood excretion, it's crucial to determine whether the bleeding originates from the lungs, the upper airway or gastrointestinal system [1]. Case Presentation A 9 y/o boy with multiple health issues (cerebral palsy, epilepsy) was hospitalised due to cough, fever and decreased apetite. On 7th day of hospitalization his condition worsened with severe coughing fits and coughing up blood. Patient received treatment at pediatric intensive care unit (PICU) for 10 days owing to destructive pneumonia and pulmonary bleeding resulting in respiratory failure. Patient's condition required intubation and mechanical ventilation as respiratory failure advanced. Bronchoscopy revealed bleeding from the right upper segmental bronchus. Tranexamic acid was administered, proving effective initially, but the bleeding recurred. Subsequent CT angiography identified active extravasation from necrotic areas in the lungs, leading to angiography embolization, successfully preventing further bleeding. After a week in the PICU, the patient was extubated, but began coughing up blood and desaturated the same day. CT images indicated extensive inflammation with pronounced tissue death and hollow spaces, with evidence of active bleeding. Patient presented with symptoms of paleness, palpable central pulse, saturation - 64%, a heart rate - 150bpm, cold extremities and aspiration of significant fresh blood through the intubation tube. After consultation, the patient was emergently prepared for a thoracotomy and resection of the upper lobe of the right lung. Patient underwent gastrostomy tube placement surgery, pneumonia has not recurred. Discussion Considering our patient's comorbidities - hemoptysis was most likely attributed to an aspirated foreign body that caused aspirated pneumonia, abscess that ruptured and caused hemoptysis. Scant hemoptysis usually resolves spontaneously and is unlikely to recur [2]. Conclusions Hemoptysis is categorized into scant (< 5mL), moderate (6-240 mL) and massive (>240 mL) [3]. Hemoptysis is rare in children and usually caused by a harmless condition that resolves on its own. A thorough medical history and physical exam are essential to assess the severity [2].

Introduction Asthma is a common chronic disease in children, affecting milions of children worldwide [1]. Asthma is divided into two main types: atopic asthma (AA) and non-atopic asthma (NAA). Children admitted to the PICU for asthma exacerbations (AE) can follow varied clinical courses, making it difficult to predict outcomes such as the need of intubation, length of stay (LOS) or the necessity for mechanical ventilation. Aim To compare the differences of outcomes between asthma exacerbation in AA and NAA in children admitted to PICU. Methods This study utilized a retrospective cohort design involving a chart review conducted at the Kaunas Clinics Children’s Department PICU. It was approved by Bioethics center (2024-BEC2-006). The cohort consisted of children (aged 1month to 18 years) admitted to the PICU for an acute AE from 2015-01-01 to 2022-12-31, identified by the following ICD-10-AM codes: J45 - asthma, J45.0 - predominantly allergic asthma, J45.1 - non-allergic asthma, J45.9

• unspecified asthma, J46 - status asthmaticus. Patients were categorized into two groups based on their diagnoses recorded in medical files. Those whose primary reason for hospitalization was unrelated to an AE were excluded from the study. Data were analyzed using IBM SPSS Statistics Version 29.0.2.0 (20) (IBM Corp., Armonk, NY, USA). Categorical variables were reported as frequencies and percentages. Continuous variables were summarized using medians and interquartile ranges (IQR). Differences in distributions between groups were assessed using the Mann-Whitney U test and ChiSquare test. Differences in the compared groups were assumed as statistically significant if p-value < 0.05. Results Out of 121 patients 33 met the criteria (n=13 (39.4%) NAA and n=20 (60.6%) AA). Among the patients, 7 (21%) had a family history of asthma, 1 (3%) personal history of eczema, 8 (24%) – allergic rhinitis. Statistically significantly more patients in AA group had a history of rhinitis (X2= 6,864, p=0.012). The LOS in the PICU was not significantly different between the groups (U=125.000, p=0.784). The median hospital LOS were 6 days (IQR 3.5-7.0) for NAA patients and 4 days (IQR 2.25-7.5) for AA patients (U=103.500, p=0.077). 1 (5%) AA patient required intubation, while none of the NAA patients did. However, this difference was not statistically significant (p=0.420). Conclusions Patients with AA are more likely to have a history of allergic rhinitis (AR). While AR is more prevalent in AA patients, the type of asthma does not significantly impact PICU outcomes such as LOS or the need for intubation.