Carotid Intima-Media Thickness and Cardiometabolic Profile in Turner Syndrome: A Cross-Sectional Study.

INTRODUCTION: Turner syndrome (TS), one of the most common chromosomal abnormalities in females, often results in adult cardiovascular and metabolic complications. Information on pediatric age is scarce. This study aimed to compare the presence of cardiometabolic risk factors in children with TS and healthy controls. METHODS: This is a cross-sectional study comparing patients with TS to age-matched healthy controls, regarding cardiometabolic risk factors including lipid profile, fasting glucose, insulin resistance, body composition, body mass index, blood pressure, and carotid intima-media thickness (cIMT). RESULTS: We included nine TS patients and nine controls with a median age of 13 years (9-14 years). Three TS patients and three controls were prepubertal. All TS patients received growth hormone treatment (GHT), median treatment of six years (3-10 years); four patients underwent treatment with estradiol. No statistically significant differences were detected between TS patients and controls regarding body mass index (BMI), cholesterol levels, and insulin resistance. cIMT indexed to body surface area showed no significant differences between TS patients and controls (0.37 vs 0.35 mm/m2, respectively, p=0.605). TS patients had lower body fat levels (7.2% vs 34.9%, p=0.004). On the other hand, TS patients had higher levels of systolic (z-score 1.04 vs -0.08, p=0.001) and diastolic (z-score 1.08 vs 0.33, p=0.031) blood pressure (BP) and aspartate (AST) and alanine (ALT) aminotransferase levels (26 vs 20 U/L, p=0.008 and 19 vs 14 U/L, p=0.004, respectively). CONCLUSION: Patients with TS, all submitted to GHT, had lower body fat levels compared with controls, despite similar BMI. Although we found no differences in cIMT between the two groups, young girls with TS had higher BP and transaminase levels. Early anthropometric, cardiovascular, and analytical monitoring of patients with TS is essential to detect abnormalities and prevent further complications.

Telemonitoring of pediatric asthma in outpatient settings: A systematic review.

Telemonitoring technologies are rapidly evolving, offering a promising solution for remote monitoring and timely management of asthma acute episodes. We aimed to describe current pediatric asthma telemonitoring technologies. A systematic review was conducted until September 2023 on Medline, Scopus, and Web of Science. We included studies of children (0-18 years) with asthma or recurrent wheezing whose respiratory condition was telemonitored outside the healthcare setting. A narrative synthesis was performed. We identified 40 telemonitoring technologies described in 40 studies. The more frequently used technologies for telemonitoring were mobile applications (n = 21) and web-based systems (n = 14). Telemonitoring duration varied between 2 weeks and 32 months. Data collection included asthma symptoms (n = 30), patient-reported outcome measures (PROMs) (n = 11), spirometry/peak flow readings (n = 20), medication adherence (n = 17), inhaler technique (n = 3), air quality (n = 2), and respiratory sounds (n = 2). Both parents and children were the technology target users in most studies (n = 23). Technology training was reported in 23 studies of which 3 provided ongoing support. Automatic feedback was found in 30 studies, mostly related with asthma control. HCP were involved in data management in 27 studies. Technologies were tested in samples from 4 to 327 children, with most studies including school-aged children and/or adolescents (n = 38) and eight including preschool children. This review provides an overview of existing technologies for the outpatient telemonitoring of pediatric asthma. Specific technologies for preschool children represent a gap in the literature that needs to be specifically addressed in future research.

Quality of Life and Hormonal Impairment in Pediatric Patients With Craniopharyngiomas.

INTRODUCTION: Craniopharyngiomas (CP) are tumors in the sellar region that, despite a high survival rate, are associated with significant morbidity, including hypothalamic, hormonal, and visual dysfunction. This study aimed to assess the quality of life (QoL) in pediatric patients with CP and to evaluate its relationship with various factors, with a focus on the impact of endocrine dysfunction. METHODS: In this observational cross-sectional study, patients with CP aged between 0 and 18 years, currently followed up in a tertiary hospital by a multidisciplinary team, were included. QoL was assessed using the validated PEDS-QL4.0 questionnaire, which was administered to parents. This tool estimates Global QoL (QoL-G), further divided into Physical (QoL-P) and Psychosocial (QoL-PS) dimensions, including Emotional (QoL-Em), Social (QoL-S), and School (QoL-Sc) aspects. In Portugal, the estimated average QoL-G is 79.8, QoL-P is 83.5, and QoL-PS is 78.2. Variables studied included gender, current and diagnostic age, follow-up time, presence of hydrocephalus, hypothalamic involvement, type of resection (total or subtotal), radiotherapy, visual impairment, hormonal deficits, and therapy. RESULTS: The study included 11 patients with a median age of 15.2 years (interquartile ratio (IQR), 9.7-17.9 years) and a mean age at diagnosis of 9.3±4.1 years. Of these patients, 54.5% were male, and 36.4% were obese. Subtotal resection was performed in 72.7% of cases. Hydrocephalus was present in 54.5% of the patients, hypothalamic involvement in 63.7%, radiotherapy was received by 81.8%, and visual impairment was noted in 54.5%. All patients presented with at least one hormonal deficit. The average QoL-G was 69.9±22.5, with QoL-P at 66.9±30.0 and QoL-PS at 70.9±21.4. A worse QoL-S was associated with female gender (p=0.030) and subtotal resection (p=0.048). Worse QoL-G, QoL-P, QoL-Em, and QoL-PS were linked to hypothalamic involvement (p values 0.008, 0.025, 0.015, and 0.009, respectively). Irradiated patients had worse QoL-G (p=0.006). Treatment with sexual hormones enhanced QoL-Global (p=0.035) and QoL-Emotional (p=0.020), while treatment for adrenal insufficiency and diabetes insipidus improved QoL-Emotional (p=0.021 and p=0.013). No significant associations with visual deficit or obesity were found. CONCLUSIONS: Pediatric patients with CP appear to have poorer QoL-G, QoL-P, and QoL-PS compared to the healthy Portuguese population. However, the small sample size limits statistically significant associations with many of these variables. Predictors of worse QoL include female gender, hypothalamic involvement, subtotal resection, and radiotherapy. The results may be biased due to the small sample size, questionnaire administration to parents, and possible inadequacy of the questionnaire for the studied population. There is a need for a more suitable tool to enable a more precise assessment of QoL in these patients.

Cerebral Venous Thrombosis in Pediatric Age: Risk Factors and Prognosis.

INTRODUCTION: Cerebral venous thrombosis (CVT) is a rare but potentially fatal disease in pediatric age with an important morbimortality. In adults several factors have been associated with worse outcomes, however there are still few studies in children. This study aims to identify risk factors associated with clinical manifestations and long-term sequelae in pediatric CVT. METHODS: Retrospective analysis of pediatric inpatients admitted to a tertiary-care hospital due to CVT between 2008 and 2020. RESULTS: Fifty-four children were included, 56% male, median age of 6.5 years (9 months-17.3 years). Permanent risk factors were identified in 13 patients (malignancy, 8; hematologic condition, 5) and transient risk factors in 47, including head and neck infections (57%) and head trauma (15%). Multiple venous sinuses involvement was present in 65% and the deep venous system was affected in four patients. Seventeen percent had intracranial hemorrhage and 9% cerebral infarction. Sixty-four percent of patients with multiple venous sinuses involvement presented with severe clinical manifestations: impaired consciousness, intracranial hypertension, acute symptomatic seizures or focal deficits. Regarding long-term prognosis, six patients had major sequelae: epilepsy (n = 3), sensory motor deficits (n = 2), and cognitive impairment (n = 3). Permanent risk factors were associated with severe clinical manifestations (p = 0.043). Cerebral infarction and intracranial hemorrhage were associated with major sequelae (p = 0.006 and p = 0.03, respectively, adjusted for age and sex). CONCLUSION: Permanent risk factors, involvement of multiple venous sinuses, intracranial hemorrhage, and cerebral infarction, were related to worse prognosis. Detection and early management of risk factors may limit CVT extension and reduce its morbimortality.

Endoscopic stenting for palliation of intra-abdominal gastrointestinal malignant obstruction: predictive factors for clinical success.

BACKGROUND: Endoscopic stenting proved to be a safe alternative to surgery for malignant intra-abdominal gastrointestinal obstruction. Although high technical success rates have been reported, some patients do not experience relief in symptoms. AIM: This study aimed to analyse the factors predicting the effectiveness of stent placement in patients with gastrointestinal obstruction. PATIENTS AND METHODS: A retrospective study was carried out including 160 patients who underwent palliative stenting for intra-abdominal obstruction in a tertiary centre from December 2012 to July 2017. Technical and clinical success, stent dysfunction and adverse events were analysed. RESULTS: The rate of technical success was 98%. The rate of early clinical success was 69 and 81% in upper and lower gastrointestinal obstructions, respectively (P=0.107). In the upper tract, obstruction caused by carcinomatosis was the only independent factor predicting early and late clinical failure [odds ratio (OR): 9.7, 95% confidence interval (CI): 2.5-38.4, P=0.001 and OR: 7.6, 95% CI: 1.8-31.9, P=0.006, respectively]. In the colon, Eastern Cooperative Oncology Group score of at least 3 was an independent factor for early clinical failure (OR: 29.8, 95% CI: 1.9-464.9, P=0.002) and obstruction caused by carcinomatosis was an independent factor for late clinical failure (OR: 14.4, 95% CI: 1.7-119.6, P=0.013). Perforation occurred in 4 patients (2.5%) and stent dysfunction occurred in 15% of patients (4% stent migration; 9% restenosis). Carcinomatosis was a risk factor for perforation (P=0.039) and migration was higher with shorter 6 cm stents (P=0.044). CONCLUSION: Stents are effective and safe for palliation of intra-abdominal obstruction. Carcinomatosis predicts an unfavourable clinical outcome. Palliative stenting as an option should be weighed carefully in these patients.