Organisation of paediatric echocardiography laboratories and governance of echocardiography services and training in Europe: current status, disparities, and potential solutions. A survey from the Association for European Paediatric and Congenital Cardiology (AEPC) imaging working group.

BACKGROUND: There is limited data on the organisation of paediatric echocardiography laboratories in Europe. METHODS: A structured and approved questionnaire was circulated across all 95 Association for European Paediatric and Congenital Cardiology affiliated centres. The aims were to evaluate: (1) facilities in paediatric echocardiography laboratories across Europe, (2) accredited laboratories, (3) medical/paramedical staff employed, (4) time for echocardiographic studies and reporting, and (5) training, teaching, quality improvement, and research programs. RESULTS: Respondents from forty-three centres (45%) in 22 countries completed the survey. Thirty-six centres (84%) have a dedicated paediatric echocardiography laboratory, only five (12%) of which reported they were European Association of Cardiovascular Imaging accredited. The median number of echocardiography rooms was three (range 1-12), and echocardiography machines was four (range 1-12). Only half of all the centres have dedicated imaging physiologists and/or nursing staff, while the majority (79%) have specialist imaging cardiologist(s). The median (range) duration of time for a new examination was 45 (20-60) minutes, and for repeat examination was 20 (5-30) minutes. More than half of respondents (58%) have dedicated time for reporting. An organised training program was present in most centres (78%), 44% undertake quality assurance, and 79% perform research. Guidelines for performing echocardiography were available in 32 centres (74%). CONCLUSION: Facilities, staffing levels, study times, standards in teaching/training, and quality assurance vary widely across paediatric echocardiography laboratories in Europe. Greater support and investment to facilitate improvements in staffing levels, equipment, and governance would potentially improve European paediatric echocardiography laboratories.

Paediatric and adult congenital cardiology education and training in Europe.

BACKGROUND: Limited data exist on training of European paediatric and adult congenital cardiologists. METHODS: A structured and approved questionnaire was circulated to national delegates of Association for European Paediatric and Congenital Cardiology in 33 European countries. RESULTS: Delegates from 30 countries (91%) responded. Paediatric cardiology was not recognised as a distinct speciality by the respective ministry of Health in seven countries (23%). Twenty countries (67%) have formally accredited paediatric cardiology training programmes, seven (23%) have substantial informal (not accredited or certified) training, and three (10%) have very limited or no programme. Twenty-two countries have a curriculum. Twelve countries have a national training director. There was one paediatric cardiology centre per 2.66 million population (range 0.87-9.64 million), one cardiac surgical centre per 4.73 million population (range 1.63-10.72 million), and one training centre per 4.29 million population (range 1.63-10.72 million population). The median number of paediatric cardiology fellows per training programme was 4 (range 1-17), and duration of training was 3 years (range 2-5 years). An exit examination in paediatric cardiology was conducted in 16 countries (53%) and certification provided by 20 countries (67%). Paediatric cardiologist number is affected by gross domestic product (R2 = 0.41). CONCLUSION: Training varies markedly across European countries. Although formal fellowship programmes exist in many countries, several countries have informal training or no training. Only a minority of countries provide both exit examination and certification. Harmonisation of training and standardisation of exit examination and certification could reduce variation in training thereby promoting high-quality care by European congenital cardiologists.

Ectopia cordis: a rare congenital anomaly.

Ectopia cordis (EC) is a rare congenital anomaly associated with the heart positioned outside of the thoracic cavity either partially or completely. The ectopic heart can be found along a spectrum of anatomical locations, including the cervical, thoracic and abdominal regions and in most cases, it protrudes outside the chest through a split sternum. Although the first case of EC was identified during the early 1600s only 91 cases have been reported since then in the literature. This review will discuss the history and prevalence of EC, its etiology, morphology, presentation and symptoms, complications, diagnosis, treatment and management and prognosis.

A Retrospective Analysis of Systemic Bartonella henselae Infection in Children.

Systemic Bartonella henselae infection, also known as cat-scratch disease (CSD), presents a diagnostic challenge due to the variability of clinical manifestations and the potential for serological cross-reactivity with other organisms. This study aimed to retrospectively analyze the epidemiological, clinical, laboratory, and imaging characteristics of pediatric patients diagnosed with systemic B. henselae infection, to improve understanding and facilitate timely diagnosis and treatment. We conducted a 10-year retrospective study at the "Louis Turcanu" Children's Emergency Hospital and private clinics in Timisoara, Romania, reviewing records for confirmed cases of B. henselae infection from January 2014 to January 2024. The study adhered to the Declaration of Helsinki and received approval from the Institutional Review Board. Diagnostic criteria included contact with animals, prolonged fever, hematological and/or hepatosplenic manifestations, and positive serological tests for B. henselae. Nineteen pediatric patients were identified with a median age of 8.1 years. The majority were exposed to felines (94.7%), reflecting the disease's epidemiological profile. Clinical findings highlighted fever (47.4%), lymphadenopathy (78.9%), and less frequently, abdominal pain and headache (both 10.5%). Laboratory analyses revealed a mean hemoglobin of 12.6 mg/dL, WBC count of 13.1 × 103 cells/microliter, and platelet count of 340.6 × 103 per microliter. Significant findings included elevation in ESR and CRP in 47.4% and 21.1% of patients, respectively, and high seropositivity rates for B. henselae IgM (63.2%) and IgG (94.7%). Imaging studies demonstrated widespread lymphadenopathy and occasional splenomegaly and hepatic microabscesses. All patients received antibiotic therapy, with azithromycin being the most commonly used (94.7%). Co-infections with Epstein-Barr Virus, Cytomegalovirus, and Toxoplasma gondii were documented, indicating the complex infectious status of the patients. Systemic B. henselae infection in children predominantly manifests with fever and lymphadenopathy, with a significant history of exposure to felines. Laboratory and imaging findings support the diagnosis, which is further complicated by potential co-infections. Effective antibiotic therapy, primarily with azithromycin, underscores the need for comprehensive diagnostic and treatment strategies. This study emphasizes the importance of considering systemic B. henselae infection in pediatric patients with prolonged fever and contact with cats, to ensure timely and appropriate treatment.

A Pilot Comparative Study between Creatinine- and Cystatin-C-Based Equations to Estimate GFR and Kidney Ultrasound Percentiles in Children with Congenital Anomalies of the Kidney and Urinary Tract.

Congenital anomalies affecting the kidneys present significant challenges in pediatric nephrology, needing precise methods for assessing renal function and guiding therapeutic intervention. Bedside Schwartz formula with the cystatin-C-based Full Age Spectrum formula and Chronic Kidney Disease in Children (CKiD) U 25 formula used in estimating glomerular filtration rate (eGFR) and also to assess if the eGFR in association with kidney length percentiles can be a monitoring parameter for the progression of chronic kidney disease in children with congenital anomalies of the kidney and urinary tract (CAKUT). A total of 64 pediatric patients (median age at diagnostic was 12 months with an interquartile range of 2 to 60) were diagnosed with congenital anomalies in the kidney and urinary tract between June 2018 and May 2023 at "Louis Turcanu" Emergency Hospital for Children in Timisoara, Romania. Baseline characteristics, CAKUT types, associated pathologies, CKD staging, and eGFR using creatinine and cystatin C were analyzed. The mean age at the moment of examination was 116.50 months; (65, 180). Chronic kidney disease staging revealed a predominance of patients in CKD stages G1 and A1. Analysis of eGFR methods revealed a small mean difference between eGFR estimated by creatinine and cystatin C, with a moderate-strong positive correlation observed between the eGFR and ultrasound parameters. Using cystatin-C-based formulas for eGFR, in conjunction with ultrasound measurements, may offer reliable insights into renal function in pediatric patients with congenital anomalies affecting the kidney and urinary tract. However, the economic aspect must be taken into consideration because cystatin C determination is approximately eight times more expensive than that of creatinine. An interdisciplinary approach is crucial for managing patients with CAKUT.

Kidney Function Tests and Continuous eGFR Decrease at Six Months after SARS-CoV-2 Infection in Patients Clinically Diagnosed with Post-COVID Syndrome.

The long-term sequelae of SARS-CoV-2 infection are still under research, since extensive studies showed plenty of systemic effects of the viral infection, extending even after the acute phase of the infection. This study evaluated kidney function tests six months after SARS-CoV-2 infection in patients clinically diagnosed with Post-COVID Syndrome, hypothesizing persistent renal dysfunction evidenced by altered kidney function tests compared to baseline levels. Continuous eGFR decrease <30 at six months post-infection was considered the main study outcome. Conducted at the "Victor Babes" Hospital, this retrospective observational study involved adults with laboratory-confirmed SARS-CoV-2 infection and clinically-diagnosed Post-COVID Syndrome, excluding those with prior chronic kidney disease or significant renal impairment. Kidney function tests, including serum creatinine, blood urea nitrogen (BUN), estimated glomerular filtration rate (eGFR), alongside markers of kidney damage such as proteinuria and hematuria, were analyzed. Among 206 participants, significant differences were observed between the control (n = 114) and the Post-COVID group (n = 92). The Post-COVID group exhibited higher serum creatinine (109.7 µmol/L vs. 84.5 µmol/L, p < 0.001), lower eGFR (65.3mL/min/1.73 m2 vs. 91.2 mL/min/1.73 m2, p < 0.001), and elevated BUN levels (23.7 mg/dL vs. 15.2 mg/dL, p < 0.001) compared to the control group. Regression analysis highlighted significant predictors of continuous eGFR decrease <30 at six months post-infection. The development of acute kidney injury (AKI) during the initial COVID-19 illness emerged as a strong predictor of reduced eGFR (ß = 3.47, p < 0.001). Additional factors, including a creatinine increase (23 µmol/L above the normal range) and an elevated Albumin to Creatinine Ratio (ACR) (>11 mg/g above the normal range), were significantly associated with eGFR reduction. Patients with Post-COVID Syndrome demonstrate significant renal impairment six months post-SARS-CoV-2 infection. The study's findings stress the need for ongoing monitoring and intervention strategies for renal health in affected individuals, underscoring the persistent impact of COVID-19 on renal function.

Correlation of Speckle-Tracking Echocardiography with Traditional Biomarkers in Predicting Cardiotoxicity among Pediatric Hemato-Oncology Patients: A Comprehensive Evaluation of Anthracycline Dosages and Treatment Protocols.

Speckle tracking-echocardiography (STE) is a novel non-invasive imaging tool capable of quantifying myocardial deformation, and thus holds promise in detecting early subclinical myocardial injury. This study aimed to evaluate the correlation of STE with traditional biomarkers in predicting anthracycline-induced cardiotoxicity in the context of varying dosages and treatment protocols in pediatric hemato-oncology patients. We conducted a retrospective study involving pediatric hemato-oncology patients undergoing anthracycline-based chemotherapy. A total of 99 patients were included in the final analysis, with 82 receiving Doxorubicin, of which 58.5% were males, and 17 receiving Epirubicin, of which 70.6% were males, with a median of 10 years old. Traditional biomarkers, such as Troponin I (cTnI) and B-type natriuretic peptide (BNP), were compared with STE parameters, including the global longitudinal strain (GLS), Simpson method of discs (SMOD), and myocardial performance index (MPI). A comprehensive evaluation was conducted based on different dosages of anthracyclines and different treatment protocols, with a follow-up period of one year post-chemotherapy. It was observed that the cTnI levels in the Doxorubicin group were significantly higher (3.2 ng/mL, p = 0.002) than in the Epirubicin group (2.7 ng/mL). However, BNP and NT-proBNP levels were not significantly different between the two groups (p = 0.096 and p = 0.172, respectively). Regarding STE parameters, a significant negative correlation was observed between the anthracycline dose and GLS (Rho = -0.411, p = 0.001), indicating increased cardiotoxicity with dose elevation. The SMOD and MPI gave significantly better values in the Epirubicin group (59.2 and 0.41 vs. 54.4 and 0.36, respectively). However, the ROC analysis did not find GLS, SMOD, or MPI to be significant independent predictors of cardiotoxicity (p > 0.05). There was also considerable variation in cardiotoxicity between the Doxorubicin and Epirubicin study groups, suggesting that the risk of cardiotoxicity is not solely determined by dose. Our study underlines the potential of STE as a sensitive tool for the early detection and prediction of anthracycline-induced cardiotoxicity in pediatric hemato-oncology patients, but only in association with the clinical findings and cardiac biomarkers. While traditional biomarkers still play a role, STE can offer a more accurate prediction of cardiac risk, potentially leading to better management and outcomes for these patients.

Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant of SLC34A1 and CYP24A1.

Idiopathic infantile hypercalcemia (IIH) is a rare genetic disease, also called hypersensitivity to vitamin D3. The molecular heterogeneity allows for the differentiation between the two forms; IIH type 1 caused by CYP24A1 genetic variants and IIH type 2 associated with SLC34A1 mutations. The affected individuals express a variety of symptoms: hypercalcemia, hypercalciuria, suppressed intact parathormone levels (PTH), nephrocalcinosis, elevated levels of serum 1,25 (OH)2-vitamin D3 or inappropriately normal levels, and kidney phosphate wasting. The present paper describes three cases of IIH with heterozygous mutations in SLC34A1 and CYP24A1 genes, respectively. The genetic diagnosis is of paramount importance for proper treatment and the prediction of long-term outcomes.

Post-Severe-COVID-19 Cardiopulmonary Rehabilitation: A Comprehensive Study on Patient Features and Recovery Dynamics in Correlation with Workout Intensity.

The aftermath of severe COVID-19 frequently involves considerable cardiopulmonary damage, necessitating rehabilitation. This study aimed to evaluate the impact of COVID-19 on cardiopulmonary health and assess the effectiveness of various rehabilitative interventions. Conducted between September 2021 and September 2022, this prospective study included patients who had been diagnosed with severe COVID-19 and admitted at the "Victor Babes" Infectious Diseases and Pulmonology Hospital, Timisoara, Romania. The patients were stratified into low- and high-intensity rehabilitation groups. The rehabilitation protocols were individually tailored, and the patient recovery was closely monitored over a 3-month period. Our cohort comprised 84 patients, with a mean age of 56.3 years for the low-intensity group (n = 42) and 53.1 years for the high-intensity group (n = 42). Both groups showed significant improvements in the lung injury area, need for oxygen supplementation, ejection fraction, systolic pulmonary artery pressure, and forced vital capacity. Additionally, considerable enhancements were observed in maximal voluntary ventilation, FEV1, FEV1/FVC ratio, peak expiratory flow, and forced expiratory flow at 25-75%. The work intensity also demonstrated substantial improvements from the initial testing to the 3-month mark in both groups. This study provides evidence that personalized, targeted rehabilitation strategies can improve long-term cardiopulmonary health in patients recovering from severe COVID-19, proving both low-intensity and high-intensity training as sufficient to improve heart and lung function if performed correctly and over a relatively short duration of 3 months. The study findings underscore the importance of implementing comprehensive cardiopulmonary rehabilitation protocols in the care of post-COVID-19 patients and highlight the value of stratified rehabilitation intensity based on individual patient dynamics and recovery features.

Renal Impairment Impact and Survival Analysis in a Romanian Cohort of HIV-1(F1)-Infected Children and Adolescents.

Human immunodeficiency virus (HIV) is a lentivirus that is transmissible through blood and other body fluids. During the late 1980s and early 1990s, an estimated 10,000 Romanian children were infected with HIV-1 subtype F nosocomially through contaminated needles and untested blood transfusions. Romania was a special case in the global acquired immunodeficiency syndrome (AIDS) pandemic, displaying the largest population of HIV-infected children by parental transmission between 1987-1990. In total, 205 HIV-infected patients from the western part of Romania were analyzed in this retrospective study. Over 70% of them had experienced horizontal transmission from an unknown source, while vertical transmission was identified in only five cases. Most patients had a moderate to severe clinical manifestation of HIV infection, 77.56% had undergone antiretroviral (ARV) treatment, most of them (71.21%) had experienced no adverse reactions and many of those with HIV (90.73%) had an undetectable viral load. Renal impairment was detected in one third of patients (34.63%). Patients born before 1990, male patients, patients diagnosed with HIV before the age of 10, and those undernourished or with renal impairment had a shorter average survival time than the group born after 1990, female patients, patients receiving ARV treatment, patients with a normal body mass index (BMI) and those without renal impairment. Periodical monitoring of the estimated glomerular filtration rate (eGFR) level, as well as the detection of protein excretion, should be taken into consideration worldwide when monitoring HIV-positive patients; this in order to detect even asymptomatic chronic kidney disease (CKD), and to manage these patients and prolong their lives.

Impact of Cancer Type and Treatment Protocol on Cardiac Function in Pediatric Oncology Patients: An Analysis Utilizing Speckle Tracking, Global Longitudinal Strain, and Myocardial Performance Index.

Pediatric hemato-oncology patients undergoing anthracycline therapy are at risk of cardiotoxicity, with disease type and treatment intensity potentially affecting cardiac function. Novel echocardiographic measures like speckle tracking echocardiography (STE), global longitudinal strain (GLS), and the myocardial performance index (MPI) may predict early changes in cardiac function not detected by traditional methods. This study aimed to assess the impact of cancer type and treatment protocol on these parameters and their potential in predicting long-term cardiac complications. We conducted a single-center, retrospective cohort study of 99 pediatric oncology patients and 46 controls that were assessed at 3, 6, and 12 months. The median age was 10.7 ± 4.4 years for cases and 10.2 ± 3.6 years for controls. STE, GLS, and MPI were measured, and statistical analyses were performed to determine any significant correlations with cardiotoxicity. Significant variations were observed in traditional cardiac function measurements between the patient and control groups, with a lower average ejection fraction (EF) of 62.8 ± 5.7% in patients vs. 66.4 ± 6.1% in controls (p < 0.001), poorer GLS of -16.3 ± 5.1 in patients compared to -19.0 ± 5.4 in controls (p = 0.004), and higher MPI values of 0.37 ± 0.06 in patients compared to 0.55 ± 0.10 in controls, indicating worse overall cardiac function (p < 0.001). However, differences in cardiac function measurements by cancer histology or treatment protocol were not statistically significant. Regression analyses showed that the combination of GLS, SMOD, and MPI increased the odds of cardiac toxicity with an odds ratio of 7.30 (95% CI: 2.65-12.81, p < 0.001). The study underscores the predictive value of the combined GLS, SMOD, and MPI measurements in pediatric oncology patients undergoing anthracycline treatment for cardiotoxicity. Although variations across cancer types and treatment protocols were not significant, the study emphasizes the potential utility of these novel echocardiographic measures in early detection and long-term prediction of anthracycline-induced cardiotoxicity. Further studies in larger, multi-center cohorts are required for validation.

Adult congenital heart disease training in Europe: current status, disparities and potential solutions.

OBJECTIVES: This study aimed to determine the status of training of adult congenital heart disease (ACHD) cardiologists in Europe. METHODS: A questionnaire was sent to ACHD cardiologists from 34 European countries. RESULTS: Representatives from 31 of 34 countries (91%) responded. ACHD cardiology was recognised by the respective ministry of Health in two countries (7%) as a subspecialty. Two countries (7%) have formally recognised ACHD training programmes, 15 (48%) have informal (neither accredited nor certified) training and 14 (45%) have very limited or no programme. Twenty-five countries (81%) described training ACHD doctors 'on the job'. The median number of ACHD centres per country was 4 (range 0-28), median number of ACHD surgical centres was 3 (0-26) and the median number of ACHD training centres was 2 (range 0-28). An established exit examination in ACHD was conducted in only one country (3%) and formal certification provided by two countries (7%). ACHD cardiologist number versus gross domestic product Pearson correlation coefficient=0.789 (p<0.001). CONCLUSION: Formal or accredited training in ACHD is rare among European countries. Many countries have very limited or no training and resort to 'train people on the job'. Few countries provide either an exit examination or certification. Efforts to harmonise training and establish standards in exit examination and certification may improve training and consequently promote the alignment of high-quality patient care.

Challenges in the Surgical Treatment of Atrioventricular Septal Defect in Children With and Without Down Syndrome in Romania-A Developing Country.

Background: Atrioventricular septal defect (AVSD) is a cardiac malformation that accounts for up to 5% of total congenital heart disease, occurring with high frequency in people with Down Syndrome (DS). We aimed to establish the surgical challenges and outcome of medical care in different types of AVSD in children with DS compared to those without DS (WDS). Methods: The study included 62 children (31 with DS) with AVSD, evaluated over a 5 year period. Results: Complete AVSD was observed in 49 (79%) children (27 with DS). Six children had partial AVSD (all WDS) and seven had intermediate types of AVSD (4 with DS). Eight children had unbalanced complete AVSD (1 DS). Median age at diagnosis and age at surgical intervention in complete AVSD was not significantly different in children with DS compared to those WDS (7.5 months vs. 8.6). Median age at surgical intervention for partial and transitional AVSDs was 10.5 months for DS and 17.8 months in those without DS. A large number of patients were not operated: 13/31 with DS and 8/31 WDS. Conclusion: The complete form of AVSD was more frequent in DS group, having worse prognosis, while unbalanced AVSD was observed predominantly in the group without DS. Children with DS required special attention due to increased risk of pulmonary hypertension. Late diagnosis was an important risk factor for poor prognosis, in the setting of suboptimal access to cardiac surgery for patients in Romania. Although post-surgery mortality was low, infant mortality before surgery remains high. Increased awareness is needed in order to provide early diagnosis of AVSD and enable optimal surgical treatment.

Antibiotic Resistance Patterns of Uropathogens Causing Urinary Tract Infections in Children with Congenital Anomalies of Kidney and Urinary Tract.

Background: Urinary tract infections (UTI) are common in children worldwide. Congenital anomalies of kidney and urinary tract (CAKUT) increase the risk of UTI and consequently antibiotic resistance. Antibiotic resistance represents an important public health issue worldwide. We aimed to evaluate the local trend in terms of bacterial uropathogen resistance in the western part of Romania in children with CAKUT and UTI. Methods: 252 children with CAKUT were admitted to our hospital over a five-year period. Of them, 91 developed at least one UTI episode, with a total number of 260 positive urine cultures. We collected data about age at diagnosis of CAKUT, sex, origin environment, type and side of CAKUT, number of UTIs, type of uropathogen, and uropathogens antibiotic resistance. Results: Distribution of uropathogens was Escherichia coli (38.84%), Klebsiella spp. (21.15%), Enterococcus spp. (15.76%), Proteus spp. (8.07%), Pseudomonas spp. (8.07%), Enterobacter spp. (2.3%), other Gram-negative bacteria (2.3%), and other Gram-positive bacteria (3.45%). High antibiotic resistance was detected for ampicillin, amoxicillin, and second-generation cephalosporins. Escherichia coli presented high resistance for cefepime and ceftriaxone. Pseudomonas spp. remained susceptible to amikacin, quinolones, and colistin. Vancomycin, teicoplanin, linezolid, and piperacillin/tazobactam remained effective in treating Gram-positive UTI. Conclusions: High antibiotic resistance was identified for frequently used antibiotics. Lower antibiotic resistance was observed for some broad-spectrum antibiotics. Understanding uropathogens' antibiotic resistance is important in creating treatment recommendations, based on international guidelines, local resistance patterns, and patient particularities.

De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review.

Duplications of chromosome 8p lead to rare genetic conditions characterized by variable phenotypes. 8p21 and 8p23 duplications were associated with mental retardation but only 8p23 duplication was associated with heart defects. 8p22→ p21.3 duplications were associated with an autism spectrum disorder in several cases. We present a rare case with a de novo duplication of the entire 8p21.3→ p23.3 region, documented by karyotype, FISH, and array CGH, with t(4;8)(q35;p21.3) translocation in a 7 years-old girl. She was referred for genetic counseling at the age of 20 months due to mild dysmorphic facial features, psychomotor retardation, and a noncyanotic heart defect. Another examination carried out at the age of 5 years, enabled the diagnosis of autism spectrum disorder and attention deficit hyperactivity disorder. Upon re-examination after two years she was diagnosed with autism spectrum disorder, attention deficit hyperactivity disorder, liminal intellect with cognitive disharmony, delay in psychomotor acquisitions, developmental language delay, an instrumental disorder, and motor coordination disorder. Cytogenetic analysis using GTG technique revealed the following karyotype: 46,XX,der(4),t(4;8)(q35;p21.3). The translocation of the duplicated 8pter region to the telomeric region 4q was confirmed by FISH analysis (DJ580L5 probe). Array CGH showed: arr[GRCh37]8p23.3p21.3(125733_22400607) × 3. It identified a terminal duplication, a 22.3 Mb copy number gain of chromosome 8p23.3-p21.3, between 125,733 and 22,400,607. In this case, there is a de novo duplication of a large chromosomal segment, which was translocated to chromosome 4q. Our report provides additional data regarding neuropsychiatric features in chromosome 8p duplication. The phenotypic consequences in our patient allow clinical-cytogenetic correlations and may also reveal candidate genes for the phenotypic features.

A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation-Case Report With Literature Review.

3q29 deletion syndrome is a rare disorder, causing a complex phenotype. Clinical features are variable and relatively non-specific. Our report aims to present an atypical, de novo deletion in chromosome band 3q29 in a preschool boy, first child of healthy non-consanguineous parents, presenting a particular phenotype (microcephaly, "full moon" face, flattened facial profile, large ears, auricular polyp, and dental dystrophies), motor and cognitive delay, characteristics of autism spectrum disorder and aggressive behavior. He also presented intrauterine growth restriction (birth weight 2,400 g) and a ventricular septal defect. SNP Array revealed a 962 kb copy number loss, on the chromosome 3q29 band (195519857-196482211), consistent with 3q29 microdeletion syndrome. FISH analysis using a RP11-252K11 probe confirmed the deletion in the proband, which was not present in the parents. Although the patient's deletion is relatively small, it partly overlaps the canonical 3q29 deletion (defined between TFRC and DLG1 gene) and extends upstream, associating a different facial phenotype compared to the classic 3q29 deletion, nonetheless showing a similar psychiatric disorder. This deletion is different from the canonical region, as it does not include the PAK2 and DLG1 genes, considered as candidates for causing intellectual disability. Thus, narrowing the genotype-phenotype correlation for the 3q29 band, FBX045 is suggested as a candidate gene for the neuropsychiatric phenotype.

De novo unbalanced translocation t(15;22)(q26.2;q12) with velo-cardio-facial syndrome: A case report and review of the literature.

The present study reports the case of a 3-h old male with a de novo unbalanced t(15;22) translocation and velo-cardio-facial syndrome (VCFS), with other abnormalities. The manifestations of the condition observed in the patient included cleft palate with feeding difficulties, respiratory infection, dysmorphic face with almond-shaped eyes, a long and wide nose, small and low-set ears, tetralogy of Fallot, cryptorchidism and varus equinus. Standard lymphocyte cytogenetic analysis using G-banding demonstrated a 45,XY,-22,der (15),t(15;22)(q26.2;q12) karyotype. Fluorescent in situ hybridization with DiGeorge/VCFS TUPLE 1 confirmed 22q11 deletions. These cytogenetic aspects appear to be rare in the etiology of VCFS, as >1% of all 22q11 deletions are the result of an unbalanced translocation, which involves chromosomes 22 and another chromosome. To the best of our knowledge, this is the second reported case where the clinical features associated with VCFS are combined with an unbalanced (15;22) translocation involving the critical 22q11.2 region.

Correlation between adipokines and carotid intima media thickness in a group of obese Romanian children: is small for gestational age status an independent factor for cardiovascular risk?

OBJECTIVE: To investigate the relationship between markers of adiposity and common carotid artery (CIMT) in obese children born small for gestational age (SGA) versus appropriate for gestational age (AGA), to establish cut-off values for CIMT in obese pediatric populations. SUBJECTS AND METHODS: A cross-sectional study was carried out over a 1-year period (Jul 2013 - June 2014). We analyzed 122 obese patients aged 4-20 (mean age 14.9 ± 2.28). Twenty-six patients were born SGA. CIMT was measured in all the patients. Using ROC curve, cut-off values were obtained for both groups. RESULTS: We demonstrated a correlation between CIMT and adiponectin, leptin and high sensitivity C-reactive protein (hsCRP) (r = -0.25, r = 0.279, r = 0.498) in obese children. CIMT in obese children born SGA were significantly increased as compared with obese children born AGA of similar age, sex and body mass index (BMI) (p = 0.0035). A CIMT cut off value of 0.049 cm has been obtained with a high sensitivity and specificity. CONCLUSION: CIMT is a well-known marker of subclinical atherosclerosis and its measurement is a noninvasive and inexpensive method of detecting subclinical atherosclerosis. Being born SGA increases the atherogenic risk. Obese children with CIMT above 0.049 cm should be screened for metabolic syndrome (MetS).

Lymphoproliferative disorder in a twin female teenager post kidney transplantation.

Post-transplant lymphoproliferative disorder (PTLD) is defined as a heterogeneous group of lymphoid and plasmocytic proliferations with variable malignant potential. They often arise in immunocompromised post solid organ transplant (SOT) patients linked with Epstein-Barr virus (EBV) infection. Clinical manifestations include fever, lymphadenopathy and organ involvement. Diagnosis of PTLD requires morphopathological tissue examination. Treatment of EBV-related PTLD in SOT patients includes immunosuppressive (IS) agents' reduction, use of antiviral medication, anti-B-lymphocyte antibodies and chemotherapy for high-risk patients. We report a case of late EBV-related PTLD occurring in a young female, coming from twins, nine years after renal transplant from deceased donor. Both sisters were diagnosed at the age of 10 with chronic kidney disease (CKD) based on nephronophthisis and underwent the first simultaneous renal transplant from deceased donor in Romania. PTLD Hodgkin's-like lymphoma and EBV-positive lesions were to be found in autopsy. Routine EBV viral load testing and immune condition in SOT patients could identify PTLD risk factors therefore early treatment can be applied. Monitoring EBV serology and immunological parameters are preferred as strategy for PTLD prevention.