Artificial intelligence in total and unicompartmental knee arthroplasty.

The application of Artificial intelligence (AI) and machine learning (ML) tools in total (TKA) and unicompartmental knee arthroplasty (UKA) emerges with the potential to improve patient-centered decision-making and outcome prediction in orthopedics, as ML algorithms can generate patient-specific risk models. This review aims to evaluate the potential of the application of AI/ML models in the prediction of TKA outcomes and the identification of populations at risk.An extensive search in the following databases: MEDLINE, Scopus, Cinahl, Google Scholar, and EMBASE was conducted using the PIOS approach to formulate the research question. The PRISMA guideline was used for reporting the evidence of the data extracted. A modified eight-item MINORS checklist was employed for the quality assessment. The databases were screened from the inception to June 2022.Forty-four out of the 542 initially selected articles were eligible for the data analysis; 5 further articles were identified and added to the review from the PUBMED database, for a total of 49 articles included. A total of 2,595,780 patients were identified, with an overall average age of the patients of 70.2 years ± 7.9 years old. The five most common AI/ML models identified in the selected articles were: RF, in 38.77% of studies; GBM, in 36.73% of studies; ANN in 34.7% of articles; LR, in 32.65%; SVM in 26.53% of articles.This systematic review evaluated the possible uses of AI/ML models in TKA, highlighting their potential to lead to more accurate predictions, less time-consuming data processing, and improved decision-making, all while minimizing user input bias to provide risk-based patient-specific care.

A novel metrics to predict right heart failure after left ventricular assist device implantation.

BACKGROUND: Right Heart Failure (RHF) is a severe complication that can occur after left ventricular assist device (LVAD) implantation, increasing early and late mortality. Although numerous RHF predictive scores have been developed, limited data exist on the external validation of these models. We therefore aimed at comparing existent risk score models and identifying predictors of severe RHF at our center. METHODS: In this retrospective, single-center analysis, clinical, biological and functional data were collected in patients implanted with a LVAD between 2011 and 2020. Early severe RHF was defined as the use of inotropes for ≥ 14 days, nitric oxide use for ≥ 48 h or unplanned right-sided circulatory support. Risk models were evaluated for the primary outcome of RHF or RVAD implantation by means of logistic regression and receiver operating characteristic curves. RESULTS: Among 92 patients implanted, 24 (26%) developed early severe RHF. The EUROMACS-RHF risk score performed the best in predicting RHF (C = 0.82-95% CI: 0.68-0.90), compared with the other scores (Michigan, CRITT). In addition, we developed a new model, based on four variables selected for the best reduced logistic model: the INTERMACS level, the number of inotropes used, the ratio of right atrial/pulmonary capillary wedge pressure and the ratio of right ventricle/left ventricle diameters by echocardiography. This model demonstrated significant discrimination of RHF (C = 0.9-95% CI: 0.76-0.96). CONCLUSION: Amongst available risk scores, EUROMACS-RHF performs best to predict the occurrence of RHF after LVAD implantation. Our model's performance compares well to the EUROMACS-RHF score, adding a more objective parameter to RV function evaluation.

An uncommon case of complete AV block.

BACKGROUND: Granulomatosis with polyangiitis (GPA) is a rare systemic inflammatory disorder characterized by vasculitis of the small vessels, as well as necrotizing granulomatous lesions, affecting mainly upper and lower respiratory tracts, lungs and kidneys. Cardiac involvement has traditionally been a rare manifestation of GPA, with misleading clinical presentation until late stages. Cardiac conducting tissue involvement is a rare and potentially life-threatening complication. CASE PRESENTATION: We report the case of a 45-year-old man diagnosed with GPA with typical symptoms, but also complete atrioventricular (AV) block at the onset of the disease. The echocardiogram was unremarkable but the cardiac magnetic resonance (CMR) showed evidence of inflammation of the basal and septal ventricle walls. Despite effective immunosuppressive therapy, a permanent pacemaker was required for recurring complete AV block. DISCUSSION: Conduction system abnormalities are a rare manifestation of GPA, due to granulomatous lesions within the conduction system, or arteritis of the atrioventricular nodal artery. Patients are often asymptomatic, so careful and regular screening for cardiac involvement in this multi-system condition is required, often with echocardiogram, electrocardiogram (ECG) monitoring and CMR. Early immunosuppressive treatment may reverse a complete AV block but a pacemaker implantation may sometimes be necessary.

Long-Term Outcome After Venoarterial Extracorporeal Membrane Oxygenation as Bridge to Left Ventricular Assist Device Preceding Heart Transplantation.

OBJECTIVES: To determine if venoarterial extracorporeal membrane oxygenation (VA ECMO) as a bridge to left ventricular assist device (LVAD) in heart transplant (HT) candidates (ie, double bridge to HT) was associated with increased morbidity and mortality when compared to LVAD bridging to HT (ie, single bridge to HT). DESIGN: A retrospective analysis of patients undergoing LVAD support from 2011 to 2020. A Kaplan-Meier survival curve and Cox-Mantel hazard ratios (HR) were calculated during LVAD support and after HT. Postoperative complications were collected. SETTING: University Hospital Erasme. PARTICIPANTS: HT candidates requiring LVAD. INTERVENTIONS: VA ECMO bridging to LVAD (ECMO-LVAD group [n = 24]) versus LVAD (LVAD group [n = 64]). MEASUREMENTS AND MAIN RESULTS: Eighty-eight patients underwent HeartWare LVAD (HVAD, Medtronic) placement. Survival to hospital discharge and during the entire study period were lower in the ECMO-LVAD group (66.7% v 92.2%; p = 0.0027, and 37.5% v 62.5%; p = 0.035, respectively). Overall HR of death was 2.46 (95% confidence interval [CI]: 1.13-5.37; p = 0.005) in the ECMO-LVAD group and remained elevated throughout their time on LVAD support (HR 3.24 [95% CI: 1.15-9.14]; p = 0.0036). However, in patients who underwent HT (n = 50), mortality was similar between groups (HR 1.33 [95% CI: 0.33-5.31]; p = 0.66). Postoperative complications were more frequent in the ECMO-LVAD group (infection = 83.3% v 51.6%, p = 0.007; renal replacement therapy = 45.8% v 9.4%, p = 0.0001; post-LVAD ECMO = 25.0% v 1.6%; p = 0.0003). CONCLUSIONS: VA ECMO as a bridge to LVAD support before HT was associated with increased morbidity and mortality during LVAD support. However, in patients who underwent HT, outcomes were similar regardless of VA ECMO bridging.

Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice.

Differential DNA methylation defects of H19/IGF2 are associated with congenital growth disorders characterized by opposite clinical pictures. Due to structural differences between human and mouse, the mechanisms by which mutations of the H19/IGF2 Imprinting Control region (IC1) result in these diseases are undefined. To address this issue, we previously generated a mouse line carrying a humanized IC1 (hIC1) and now replaced the wildtype with a mutant IC1 identified in the overgrowth-associated Beckwith-Wiedemann syndrome. The new humanized mouse line shows pre/post-natal overgrowth on maternal transmission and pre/post-natal undergrowth on paternal transmission of the mutation. The mutant hIC1 acquires abnormal methylation during development causing opposite H19/Igf2 imprinting defects on maternal and paternal chromosomes. Differential and possibly mosaic Igf2 expression and imprinting is associated with asymmetric growth of bilateral organs. Furthermore, tissue-specific imprinting defects result in deficient liver- and placenta-derived Igf2 on paternal transmission and excessive Igf2 in peripheral tissues on maternal transmission, providing a possible molecular explanation for imprinting-associated and phenotypically contrasting growth disorders.

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus.

PURPOSE: Beckwith-Wiedemann syndrome (BWS) is a developmental disorder caused by dysregulation of the imprinted gene cluster of chromosome 11p15.5 and often associated with loss of methylation (LOM) of the imprinting center 2 (IC2) located in KCNQ1 intron 10. To unravel the etiological mechanisms underlying these epimutations, we searched for genetic variants associated with IC2 LOM. METHODS: We looked for cases showing the clinical features of both BWS and long QT syndrome (LQTS), which is often associated with KCNQ1 variants. Pathogenic variants were identified by genomic analysis and targeted sequencing. Functional experiments were performed to link these pathogenic variants to the imprinting defect. RESULTS: We found three rare cases in which complete IC2 LOM is associated with maternal transmission of KCNQ1 variants, two of which were demonstrated to affect KCNQ1 transcription upstream of IC2. As a consequence of KCNQ1 haploinsufficiency, these variants also cause LQTS on both maternal and paternal transmission. CONCLUSION: These results are consistent with the hypothesis that, similar to what has been demonstrated in mouse, lack of transcription across IC2 results in failure of methylation establishment in the female germline and BWS later in development, and also suggest a new link between LQTS and BWS that is important for genetic counseling.

B-cell hyperfunction in children with immune thrombocytopenic purpura persists after splenectomy.

BACKGROUND: Immune thrombocytopenic purpura (ITP) is characterized by reduced platelet count secondary to immune-mediated destruction, this results in an increased bleeding risk. Autoantibodies binding to platelets tag them for premature destruction in the spleen. For this reason, splenectomy is often performed as treatment of chronic forms of disease that are resistant to pharmacological therapy. METHODS: We studied 30 patients with ITP and compared them with age-matched controls. RESULTS: We show that B cells of patients with chronic ITP are intrinsically hyperreactive, producing more than normal IgG in vivo and plasma cells in vitro. In normal individuals after splenectomy, a significant depletion of memory B cells is observed, associated with loss of reactivity to CpG oligodeoxynucleotide and consequent inability to form antibody-producing cells. In Enzyme-Linked ImmunoSpot Methods, we compared three splenectomized ITP patients relapsing after surgery, 30 healthy controls, and 37 individuals splenectomized for trauma, spherocytosis, thalassemia, nonhematological tumor, and other diseases. CONCLUSIONS: We confirmed that B cells of ITP patients remain hyperreactive in vitro and form high numbers of antibody-producing cells after splenectomy. Thus, chronic ITP may be associated with intrinsic B-cell hyperfunction, leading to the production of antibodies with multiple specificities including that against platelets.

Pulmonary Arteriovenous Malformations and Cerebral Abscess Recurrence in a Child With Hereditary Hemorrhagic Telangiectasia.

BACKGROUND: A 17-year-old boy was referred to our center with a history of brain abscess (BA) recurring after 9 years. The patient reported 2 previous treatments for pulmonary arteriovenous malformations, sporadic nosebleeds, and familial history for epistaxis. Clinical investigations revealed arteriovenous malformations in lung, brain, and liver, as well as mucocutaneous telangiectases. A definite diagnosis of hereditary hemorrhagic telangiectasia was made based on clinical criteria and confirmed by genetic analysis. This is the first report of BA recurrence at the end of pediatric age. CONCLUSIONS: The present case and the literature review of all cases of BA thus far reported highlight the need to raise the suspicion of a pulmonary arteriovenous malformations, both isolated and in the context of a possible hereditary hemorrhagic telangiectasia, for any case of BA of unexplained etiology, in children as well as in adults.

The Cardiovascular Disease (CVD) Risk Continuum from Prenatal Life to Adulthood: A Literature Review.

The risk of developing cardiovascular diseases (CVDs) arises from the interaction of prenatal factors; epigenetic regulation; neonatal factors; and factors that affect childhood and adolescence, such as early adiposity rebound (AR) and social and environmental influences. Thus, CVD risk varies between the group of low-risk metabolically healthy normal-weight subjects (MHNW); the intermediate-risk group, which includes metabolically healthy obese (MHO) and metabolically unhealthy normal-weight subjects (MUHNW); and the high-risk group of metabolically unhealthy obese (MUHO) subjects. In this continuum, several risk factors come into play and contribute to endothelial damage, vascular and myocardial remodeling, and atherosclerotic processes. These pathologies can occur both in prenatal life and in early childhood and contribute to significantly increasing CVD risk in young adults over time. Early intervention in the pediatric MUHO population to reduce the CVD risk during adulthood remains a challenge. In this review, we focus on CVD risk factors arising at different stages of life by performing a search of the recent literature. It is urgent to focus on preventive or early therapeutic strategies to stop this disturbing negative metabolic trend, which manifests as a continuum from prenatal life to adulthood.

Vascular and Myocardial Function in Young People with Type 1 Diabetes Mellitus: Insulin Pump Therapy Versus Multiple Daily Injections Insulin Regimen.

INTRODUCTION: Multiple daily injections (MDI) and continuous subcutaneous insulin infusion (CSII) are two modalities of treating type 1 diabetes mellitus (T1DM). The benefits of CSII on long-term metabolic control and outcomes compared to those of MDI are still debated. We investigated both vascular function and myocardial performance in T1DM adolescents on MDI or CSII treatment. METHODS: One hundred twenty-three T1DM subjects (mean age 14.16±2.55 years), 63 on MDI regimen, 60 on CSII, and 57 controls were enrolled. Anthropometric and biochemical characteristics were evaluated. Ultrasound assessments of carotid intima-media thickness (cIMT), flow-mediated dilatation of brachial artery, anteroposterior diameter of the infrarenal abdominal aorta (APAO), and transthoracic echocardiography were performed. RESULTS: T1DM subjects on the CSII regimen showed better glycemic control than those on MDI, expressed as glycated haemoglobin (HbA1c). c-IMT and APAO were higher in MDI than CSII patients (0.61±0.11 mm vs. 0.56±0.07 mm, p=0.04; 13.61±3.29 mm vs. 11.65±1.84 mm, p=0.01, respectively). Left and right Tei index and left E/e' ratio were higher in MDI than CSII subjects (0.82±0.40 vs. 0.52±0.19, p=0.002; 0.86±0.41 vs. 0.64±0.1, p=0.02; 5.89±2.0 vs. 4.73±1.59, p=0.02, respectively). Multiple regression analyses showed that glucose level, HbA1c and diabetes onset were significantly related to vascular and echocardiographic parameters in MDI and CSII patients. CONCLUSIONS: CSII regimen in T1DM adolescents improves glycemic control and seems to ameliorate endothelial function and global myocardial performance as compared to MDI therapy.

Cardiovascular Implications in Idiopathic and Syndromic Obesity in Childhood: An Update.

Childhood obesity is a modern worldwide epidemic with significant burden for health. It is a chronic metabolic disorder associated with multiple cardiovascular risk factors such as dyslipidemia, hypertension, stroke, and insulin resistance. Many obese adolescents remain obese into adulthood, with increased morbidity and mortality. As childhood obesity is a risk factor for adult obesity, the childhood obesity-related disorders account for an increased risk of cardiovascular consequences in adults, in addition to the effects already exerted by the fat mass in adulthood. Several papers have already described the cardiovascular implications of idiopathic obesity, while few data are available about syndromic obesity, due to the small sample size, not homogeneous phenotypes, and younger age at death. The aim of this mini-review is to give a comprehensive overview on knowledge about cardiovascular implications of idiopathic and syndromic obesity to allow the reader a quick comparison between them. The similarities and differences will be highlighted.

How Physical Activity across the Lifespan Can Reduce the Impact of Bone Ageing: A Literature Review.

Bone remodeling is a lifelong process, due to the balanced activity of the osteoblasts (OBs), the bone-forming cells, and osteoclasts (OCs), the bone-resorbing cells. This equilibrium is mainly regulated by the WNT-ß-cathenin pathway and the RANK-RANKL/OPG system, respectively. Bone ageing is a process which normally occurs during life due to the imbalance between bone formation and bone resorption, potentially leading to osteoporosis. Bone loss associated with bone ageing is determined by oxidative stress, the result of the increasing production of reactive oxygen species (ROS). The promotion of physical exercise during growth increases the chances of accruing bone and delaying the onset of osteoporosis. Several studies demonstrate that physical exercise is associated with higher bone mineral density and lower fracture incidence, and the resulting bone mineral gain is maintained with ageing, despite a reduction of physical activity in adulthood. The benefits of exercise are widely recognized, thus physical activity is considered the best non-pharmacologic treatment for pathologies such as osteoporosis, obesity, diabetes and cardiovascular disease. We reviewed the physiological mechanisms which control bone remodeling, the effects of physical activity on bone health, and studies on the impact of exercise in reducing bone ageing.

Can Anti-Thyroid Antibodies Influence the Outcome of Primary Chronic Immune Thrombocytopenia in Children?

BACKGROUND: Immune thrombocytopenia (ITP) is an acquired immune mediated disorder characterized by isolated thrombocytopenia. Pediatric ITP patients can develop autoantibodies such as anti-thyroglobulin (TG) and anti-thyroperoxidase (TPO), even in the absence of clinical signs of autoimmune disease. OBJECTIVE: The purpose of this article is to provide a review about: 1) the prevalence of positivity of anti-thyroid antibodies (TPO and TG) in pediatric patients with chronic ITP; 2) the role of autoimmune thyroiditis on the outcome of chronic ITP. METHODS: The authors individually completed a review of the literature for this article. Retrospective and prospective clinical studies with pediatric cohorts were considered. RESULTS: From the analysis of data, we found 4 papers which included studies only on pediatric population, and which corresponded to selected criteria. Pediatric ITP patients have been shown to have a statistically significant prevalence of anti-thyroid antibodies over healthy controls (11.6-36% versus 1.2-1.3%). No correlation has been found between the platelet count and the prevalence of positive anti-thyroid antibodies at any time of the follow up. CONCLUSION: The results of our bibliographic research demonstrated that: a) pediatric patients with chronic ITP tend to have a statistically significant prevalence of anti-thyroid antibodies positivity respect to general pediatric population; b) there are no clear data about the role of autoimmune thyroiditis as prognostic factor for chronic course of ITP in pediatric age.

Vascular, cardiac and renal target organ damage associated to arterial hypertension: which noninvasive tools for detection?

Arterial hypertension is a systemic condition characterized by elevated blood pressure in the vascular system. Despite the great effort of scientific community to sensitize population to the problem, enforcing the preventive and treatment measures, this condition continues to be responsible for a large portion of global mortality, as it represents one of the major modifiable risk factors of cardiovascular disease. The significant and substantial clinical implications of high blood pressure on cardiovascular morbidity and mortality are explained by the effect of hypertension on specific organs, particularly sensitive to the effects of changes in blood pressure, resulting cardiac remodeling, cerebrovascular disease, renal failure, atherosclerotic vascular disease, and retinopathy, hence the term "target organ damage". The aim of this review is to give an overview of several noninvasive tools useful in the detection of organ damage related to arterial hypertension.

Serum Vitamin D Levels in Children with Immune Thrombocytopenia.

OBJECTIVE: Immune thrombocytopenia (ITP) is an acquired immuno-mediated disorder characterized by thrombocytopenia with an increased risk of bleeding. In recent years 1,25[OH]2D3 has been rediscovered as an immune modulator. We decided to evaluate serum Vitamin D levels in a cohort of children with immune thrombocytopenia in order to discover if Vitamin D concentrations may predict ITP duration. METHODS: Thirty children were enrolled in this study (sixteen with chronic ITP and fourteen with newly diagnosed ITP) to assess serum Vitamin D levels. RESULTS: The results showed that 80% of the enrolled children presented a D hypovitaminosis status. Children with newly diagnosis ITP showed no statistically significantly higher median values of Vitamin D compared to chronic ITP. CONCLUSION: This study may suggest that Vitamin D deficiency does not represent a chronicity factor for ITP. However, further studies are needed to understand the role of Vitamin D in ITP pathogenesis.

Endothelial dysfunction and cardiovascular risk factors in childhood acute lymphoblastic leukemia survivors.

BACKGROUND: Childhood acute lymphoblastic leukemia (ALL) survivors have increased risk of obesity, metabolic alterations and cardiovascular disease (CVD). Vascular endothelial function has been studied in adult cancers. Limited data exist regarding CVD risk factors among childhood ALL survivors. We aimed to assess endothelial function, metabolic and cardiovascular risk factors in young survivors of childhood ALL. METHODS: Auxological parameters, blood pressure, glucose, lipid profile, hemostatic markers (total adiponectin and high-molecular-weight subfraction, endothelin-1, von Willebrand factor antigen, thrombin-antithrombin complex, D-dimers, fibrinogen), high sensitive C-reactive protein and ultrasound parameters of endothelial function (flow-mediated dilation-FMD, common carotid intima-media thickness-C-IMT, and antero-posterior diameter of infra-renal abdominal aorta-APAO) were assessed in 52 ALL survivors and 34 sex and age-matched controls. RESULTS: ALL patients and controls were not statistically different as regards body mass index and waist circumference. Blood pressure, glucose, total and LDL-cholesterol, triglycerides, high sensitive C-reactive protein were statistically higher in ALL than in controls, while HDL-cholesterol was lower in ALL than in controls. Patients showed statistically lower high-molecular-weight adiponectin and thrombin-antithrombin complex (p=0.003 and p<0.001, respectively) and higher vonWillebrand factor antigen (p=0.002) than controls. FMD was lower in patients than in controls (p<0.001). Biomarkers of endothelial function, systolic blood pressure and waist circumference were correlated to FMD. CONCLUSIONS: ALL survivors showed derangement of endothelial function, which likely occurs during chemotherapy and lasts till follow up. They showed metabolic alterations even though obesity was not documented. Endothelial vascular parameters should be evaluated earlier during follow-up to detect preclinical onset of CVD.

Non-alcoholic fatty liver disease is associated with early left ventricular dysfunction in childhood acute lymphoblastic leukaemia survivors.

BACKGROUND: Childhood acute lymphoblastic leukaemia (ALL) survivors have an increased risk of metabolic and cardiovascular disease. We aimed to assess the presence of non-alcoholic fatty liver disease (NAFLD) in childhood ALL and if it is associated with early cardiovascular dysfunction. METHODS: In total, 53 childhood ALL survivors and 34 controls underwent auxological evaluation, biochemical assay, liver, heart and vascular ultrasound study. RESULTS: NAFLD was more frequent in ALL patients than in controls (39.6% vs 11.7%, P < 0.01). Patients with NAFLD were more obese and insulin resistant than patients without NAFLD. Flow-mediated dilatation and interventricular septum were lower in the ALL group than those in the control group (P < 0.001 for both). The patients with NAFLD showed lower left ventricular ejection fraction than those without NAFLD (P = 0.011). In ALL survivors, BMI-SDS and subcutaneous fat were the strongest predictors of NAFLD, whereas preperitoneal adipose tissue and C-reactive protein were the strongest predictors of left ventricular ejection fraction. CONCLUSIONS: Childhood ALL survivors had higher prevalence of NAFLD than healthy controls, which is associated with early left ventricular impairment. In the case of fatty liver, a comprehensive heart evaluation is mandatory. We strongly recommend to prevent visceral adiposity in ALL survivors, to search for metabolic syndrome or its components and to reinforce the need of intervention on diet and lifestyle during the follow-up of these patients.

Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.

BACKGROUND: The overgrowth-associated Beckwith-Wiedemann syndrome (BWS) and the undergrowth-associated Silver-Russell syndrome (SRS) are characterized by heterogeneous molecular defects affecting a large imprinted gene cluster at chromosome 11p15.5-p15.4. While maternal and paternal duplications of the entire cluster consistently result in SRS and BWS, respectively, the phenotypes associated with smaller duplications are difficult to predict due to the complexity of imprinting regulation. Here, we describe two cases with novel inherited partial duplications of the centromeric domain on chromosome 11p15 associated with contrasting growth phenotypes. FINDINGS: In a male patient affected by intrauterine growth restriction and postnatal short stature, we identified an in cis maternally inherited duplication of 0.88 Mb including the CDKN1C gene that was significantly up-regulated. The duplication did not include the long non-coding RNA KCNQ1OT1 nor the imprinting control region of the centromeric domain (KCNQ1OT1:TSS-DMR or ICR2) in which methylation was normal. In the mother, also referring a growth restriction phenotype in her infancy, the duplication was de novo and present on her paternal chromosome. A different in cis maternal duplication, 1.13 Mb long and including the abovementioned duplication, was observed in a child affected by Tetralogy of Fallot but with normal growth. In this case, the rearrangement also included most of the KCNQ1OT1 gene and resulted in ICR2 loss of methylation (LOM). In this second family, the mother carried the duplication on her paternal chromosome and showed a normal growth phenotype as well. CONCLUSIONS: We report two novel in cis microduplications encompassing part of the centromeric domain of the 11p15.5-p15.4 imprinted gene cluster and both including the growth inhibitor CDKN1C gene. Likely, as a consequence of the differential involvement of the regulatory KCNQ1OT1 RNA and ICR2, the smaller duplication is associated with growth restriction on both maternal and paternal transmissions, while the larger duplication, although it includes the smaller one, does not result in any growth anomaly. Our study provides further insights into the phenotypes associated with imprinted gene alterations and highlights the importance of carefully evaluating the affected genes and regulatory elements for accurate genetic counselling of the 11p15 chromosomal rearrangements.

Endothelial and Metabolic Function Interactions in Overweight/Obese Children.

AIM: Although the underlined mechanisms are still unknown, metabolic/coagulation alterations related to childhood obesity can induce vascular impairments. The aim of this study was to investigate the relationship between metabolic/coagulation parameters and endothelial function/vascular morphology in overweight/obese children. METHODS: Thirty-five obese/overweight children (22 pre-pubertal, mean age: 9.52±3.35 years) were enrolled. Body mass index (BMI), homeostasis model assessment index (HOMAIR), metabolic and coagulation parameters, [adiponectin, fibrinogen, high molecular weight adiponectin (HMW), endothelin-1, and vonWillebrand factor antigen] ultrasound early markers of atherosclerosis [flow-mediated dilatation (FMD), common carotid intima-media thickness (C-IMT), and anteroposterior diameter of infra-renal abdominal aorta (APAO)] were assessed. RESULTS: APAO was related to anthropometric (age: r=0.520, p=0.001; height: r=0.679, p＜0.001; weight: r=0.548, p=0.001; BMI: r=0.607, p＜0.001; SBP: r=0.377, p=0.026) and metabolic (HOMAIR: r=0.357, p=0.035; HMW: r=－0.355, p=0.036) parameters. Age, height, and systolic blood pressure were positively related to increased C-IMT (r=0.352, p=0.038; r=0.356, p=0.036; r=0.346, p=0.042, respectively). FMD was not related to any clinical and biochemical characteristics of the pediatric population. Age, HOMAIR, fasting glucose levels, and HMW were independent predictors for APAO increase. Each unit decrease in HMW concentrations (1 µg/ml) induced a 0.065 mm increase in APAO. CONCLUSION: High molecular weight adiponectin is related to cardiovascular risk in overweight/obese children.