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1.
Children (Basel) ; 8(7)2021 Jun 22.
Artículo en Inglés | MEDLINE | ID: mdl-34206173

RESUMEN

Cardiorenal syndrome (CRS) is defined as a disorder resulting from the abnormal interaction between the heart and kidney, in which acute or chronic dysfunction of one organ may lead to acute and/or chronic dysfunction of the other. The functional interplay between the heart and kidney is characterized by a complex bidirectional symbiotic interaction, regulated by a wide array of both genetic and environmental mechanisms. There are at least five known subtypes of CRS, based on the severity of clinical features and the degree of heart/renal failure. The fourth subtype (cardiorenal syndrome type 4 (CRS4)) is characterized by a primary chronic kidney disease (CKD), which in turn leads to a decreased cardiac function. Impairment of renal function is among the most important pathophysiological factors contributing to heart failure (HF) in the pediatric age group, and cardiovascular complications could be one of the most important causes of mortality in pediatric patients with advanced CKD. In this context, a loss of glomerular filtration rate directly correlates with both the progression of cardiovascular complications in CRS and the risk of HF. This review describes the interaction pathways between the heart and kidney and the recently identified pathophysiological mechanisms underlying pediatric CRS, with a special focus on CRS4, which encompasses both primary CKD and cardiovascular disease (CVD).

2.
J Cardiovasc Med (Hagerstown) ; 22(9): 711-715, 2021 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-34009835

RESUMEN

CoronaVIrus Disease-19 (COVID-19) had a huge impact on human health and economy. However, to this date, the effects of the pandemic on the training of young cardiologists are only partially known. To assess the consequences of the pandemic on the education of the cardiologists in training, we performed a 23-item national survey that has been delivered to 1443 Italian cardiologists in training, registered in the database of the Italian Society of Cardiology (SIC). Six hundred and thirty-three cardiologists in training participated in the survey. Ninety-five percent of the respondents affirmed that the training programme has been somewhat stopped or greatly jeopardized by the pandemic. For 61% of the fellows in training (FITs), the pandemic had a negative effect on their education. Moreover, 59% of the respondents believe that they would not be able to fill the gap gained during that period over the rest of their training. A negative impact on the psycho-physical well being has been reported by 86% of the FITs. The COVID-19 pandemic had an unparalleled impact on the education, formation and mental state of the cardiologists in training. Regulatory agencies, universities and politicians should make a great effort in the organization and reorganization of the teaching programs of the cardiologists of tomorrow.


Asunto(s)
COVID-19 , Cardiólogos , Cardiología/educación , Control de Enfermedades Transmisibles , Educación , Internado y Residencia , COVID-19/epidemiología , COVID-19/prevención & control , Cardiólogos/educación , Cardiólogos/psicología , Cardiólogos/normas , Competencia Clínica/normas , Control de Enfermedades Transmisibles/métodos , Control de Enfermedades Transmisibles/organización & administración , Educación/organización & administración , Educación/normas , Becas/métodos , Becas/estadística & datos numéricos , Humanos , Internado y Residencia/métodos , Internado y Residencia/organización & administración , Internado y Residencia/normas , Italia/epidemiología , Evaluación de Necesidades , SARS-CoV-2 , Sociedades Médicas/estadística & datos numéricos , Encuestas y Cuestionarios
3.
G Ital Cardiol (Rome) ; 22(2): 140-148, 2021 Feb.
Artículo en Italiano | MEDLINE | ID: mdl-33470230

RESUMEN

High blood pressure in pediatric age is meeting a growing interest owing to the possible aftermaths in adult age in terms of public health. In fact, children and adolescents with high blood pressure values are likely to become hypertensive adults, thus developing cardiovascular diseases. Over the last decade, numerous studies have been conducted in this field. That is the reason why the American Academy of Pediatrics in 2017 published un update on the previous recommendations of the United States Fourth Working Group on pediatric blood pressure. This update includes a new classification of hypertension, the endorsement of the 24-hour ambulatory blood pressure monitoring and the reduction in the blood pressure target for both chronic kidney disease and non-chronic kidney disease hypertensive children. This review discusses strengths and weaknesses of the recent practical guidelines of the American Academy of Pediatrics.


Asunto(s)
Hipertensión , Pediatría , Adolescente , Adulto , Presión Sanguínea , Determinación de la Presión Sanguínea , Monitoreo Ambulatorio de la Presión Arterial , Niño , Humanos , Hipertensión/diagnóstico , Hipertensión/terapia , Estados Unidos
4.
Int J Cardiol Congenit Heart Dis ; 4: 100186, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35360449

RESUMEN

Individuals with the highest risk for adverse outcomes of COVID-19 should be prioritized by the vaccine allocation policies. We have conducted a literature review of published studies, which comprehend congenital heart disease (CHD) and COVID-19, in order to present the overall evidences of both exposure and clinical risk of patients with adult congenital heart disease (ACHD) and to propose a risk profile schema for those patients to be incorporated into vaccine distribution decisions.

6.
Eur Heart J Cardiovasc Imaging ; 22(7): 808-816, 2021 06 22.
Artículo en Inglés | MEDLINE | ID: mdl-33026072

RESUMEN

AIMS: Bicuspid aortic valve (BAV) may be complicated by aortic aneurysms and dissection. This study aimed to evaluate the prognostic efficacy of markers from cardiac imaging, as well as genetic and new biomarkers, to early predict aortic complications. METHODS AND RESULTS: We re-evaluated after a mean time of 48 ± 11 months 47 BAV patients who had undergone previous echocardiography for evaluation of aortic stiffness and 2D aortic longitudinal strain (LS) (by speckle-tracking analysis), and who had given a blood sample for the assessment of a single-nucleotide polymorphism of elastin gene (ELN rs2 071307) and quantification of elastin soluble fragments (ESF). Surgical treatment of aortic aneurysm/dissection was the primary endpoint, and an aortic dimension increase (of one or more aortic segments) ≥1 mm/year was the secondary endpoint. Nine patients underwent surgical treatment of ascending aorta (AA) aneurysms. Out of the 38 patients who did not need surgical intervention, 16 showed an increase of aortic root and/or AA dimension ≥1 mm/year. At multivariate Cox regression analysis, an impaired AA LS was an independent predictor of aortic surgery [P = 0.04; hazard ratio (HR) 0.961; 95% confidence interval (CI) 0.924-0.984] and aortic dilatation (P = 0.007; HR 0.960; 95% CI 0.932-0.989). An increased quantity of ESF was correlated (P = 0.015) with the primary endpoint at univariate Cox regression analysis but it did not keep statistical significance at multivariate analysis. CONCLUSION: In BAV patients, impairment of elastic properties of the AA, as assessed by 2D LS, is an effective predictor of aortic complications.


Asunto(s)
Enfermedad de la Válvula Aórtica Bicúspide , Enfermedades de las Válvulas Cardíacas , Válvula Aórtica/diagnóstico por imagen , Válvula Aórtica/cirugía , Elastina/genética , Enfermedades de las Válvulas Cardíacas/diagnóstico por imagen , Enfermedades de las Válvulas Cardíacas/genética , Enfermedades de las Válvulas Cardíacas/cirugía , Humanos , Pronóstico
7.
J Cardiovasc Med (Hagerstown) ; 21(7): 467-471, 2020 07.
Artículo en Inglés | MEDLINE | ID: mdl-32487868

RESUMEN

: The recent outbreak of 2019 severe acute respiratory syndrome coronavirus-2 is having major repercussions on healthcare services provision in Italy and worldwide. Data suggest the virus has a strong impact on the cardiovascular system, and cardiac imaging will play an important role in patients affected by coronavirus disease-2019. Although paediatric patients are mildly affected, they represent a clear accelerator in spreading the virus, and healthcare workers are at higher risk of infection. The aim of this position paper is to provide clinical recommendation regarding the execution of imaging investigations for the cardiac diagnostic work-up of paediatric patients with suspected or confirmed infection.


Asunto(s)
Técnicas de Imagen Cardíaca/métodos , Cardiología , Infecciones por Coronavirus , Cardiopatías Congénitas , Exposición Profesional/prevención & control , Pandemias , Pediatría , Neumonía Viral , Betacoronavirus/aislamiento & purificación , COVID-19 , Cardiología/métodos , Cardiología/normas , Niño , Infecciones por Coronavirus/epidemiología , Infecciones por Coronavirus/prevención & control , Transmisión de Enfermedad Infecciosa/prevención & control , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/epidemiología , Humanos , Control de Infecciones/métodos , Control de Infecciones/organización & administración , Italia/epidemiología , Pandemias/prevención & control , Pediatría/métodos , Pediatría/normas , Neumonía Viral/epidemiología , Neumonía Viral/prevención & control , SARS-CoV-2 , Sociedades Médicas
8.
J Clin Med ; 9(6)2020 Jun 08.
Artículo en Inglés | MEDLINE | ID: mdl-32521643

RESUMEN

BACKGROUND: The pandemic of Novel Coronavirus Disease 2019 (COVID-19) is challenging, given the large number of hospitalized patients. Cardiovascular co-morbidities are linked to a higher mortality risk. Thus, patients with Congenital Heart Disease (CHD) might represent a high-risk population. Nevertheless, no data about them are available, yet. Hence, we conducted a nationwide survey to assess clinical characteristics and outcomes in patients with congenital heart disease affected by COVID-19. METHODS AND RESULTS: This is a multi-centre, observational, nationwide survey, involving high-volume Italian CHD centres. COVID-19 diagnosis was defined as either "clinically suspected" or "confirmed", where a severe acute respiratory syndrome coronavirus 2 (SARS-CoV2) test had been performed and was positive. Cardiovascular comorbidities were observed among adult patients-atrial fibrillation (seven; 9%), hypertension (five; 7%), obesity (seven; 9%) and diabetes (one; 1%)-but were absent among children. Cardiovascular complications were mainly observed in the "confirmed" COVID-19+ group, consisting of heart failure (9%), palpitations/arrhythmias (3%), stroke/TIA (3%) and pulmonary hypertension (3%). Cardiovascular symptoms such as chest pain (1%), myocardial injury (1%) and pericardial effusion (1%) were also recorded. On the contrary, CHD patients from the clinically suspected COVID-19 group presented no severe symptoms or complications. CONCLUSIONS: Despite previous reports pointing to a higher case-fatality rate among patients with cardiovascular co-morbidities, we observed a mild COVID-19 clinical course in our cohort of CHD patients. Although these results should be confirmed in larger cohorts to investigate the underlying mechanisms, the findings of low cardiovascular complications rates and no deaths are reassuring for CHD patients.

9.
Eur Heart J ; 41(22): 2083-2088, 2020 06 07.
Artículo en Inglés | MEDLINE | ID: mdl-32412631

RESUMEN

AIMS: To evaluate the impact of the COVID-19 pandemic on patient admissions to Italian cardiac care units (CCUs). METHODS AND RESULTS: We conducted a multicentre, observational, nationwide survey to collect data on admissions for acute myocardial infarction (AMI) at Italian CCUs throughout a 1 week period during the COVID-19 outbreak, compared with the equivalent week in 2019. We observed a 48.4% reduction in admissions for AMI compared with the equivalent week in 2019 (P < 0.001). The reduction was significant for both ST-segment elevation myocardial infarction [STEMI; 26.5%, 95% confidence interval (CI) 21.7-32.3; P = 0.009] and non-STEMI (NSTEMI; 65.1%, 95% CI 60.3-70.3; P < 0.001). Among STEMIs, the reduction was higher for women (41.2%; P = 0.011) than men (17.8%; P = 0.191). A similar reduction in AMI admissions was registered in North Italy (52.1%), Central Italy (59.3%), and South Italy (52.1%). The STEMI case fatality rate during the pandemic was substantially increased compared with 2019 [risk ratio (RR) = 3.3, 95% CI 1.7-6.6; P < 0.001]. A parallel increase in complications was also registered (RR = 1.8, 95% CI 1.1-2.8; P = 0.009). CONCLUSION: Admissions for AMI were significantly reduced during the COVID-19 pandemic across Italy, with a parallel increase in fatality and complication rates. This constitutes a serious social issue, demanding attention by the scientific and healthcare communities and public regulatory agencies.


Asunto(s)
Betacoronavirus , Infecciones por Coronavirus , Hospitalización/tendencias , Infarto del Miocardio , Pandemias , Neumonía Viral , Anciano , Anciano de 80 o más Años , COVID-19 , Femenino , Humanos , Italia/epidemiología , Masculino , Persona de Mediana Edad , Infarto del Miocardio/complicaciones , Infarto del Miocardio/diagnóstico , Infarto del Miocardio/mortalidad , Infarto del Miocardio/terapia , SARS-CoV-2
10.
Artículo en Inglés | MEDLINE | ID: mdl-32194501

RESUMEN

Background: Childhood obesity is related to a wide spectrum of cardiovascular and metabolic comorbidities. Objectives: (1) To identify precocious, preclinical, cardiovascular sonographic modifications, in a cohort of overweight (OW) and obese (OB) children and adolescents compared to lean controls; (2) to investigate the association between clinical and metabolic variables and cardiovascular sonographic parameters; (3) to evaluate their relation with two different phenotypes of obesity: metabolically healthy obesity (MHO) and metabolically unhealthy obesity (MUO). Materials and Methods: Fifty-nine OW and OB children and adolescents (9.8 ± 2.9 years) and 20 matched lean controls underwent anthropometric, biochemical, echocardiography assessment, and sonographic evaluation of carotid artery and ascending aorta (AA). OW and OB subjects were divided in MHO and MUO, according to the Camhi et al. definition. Results: OW and OB children showed significantly higher left ventricular (LV) dimensions and mass, carotid artery intima-media thickness (CIMT), carotid stiffness [ß-index, pulse wave velocity (PWV)], significantly lower mitral peak early (E) and late (A) velocity ratio (E/A ratio), and significantly impaired global longitudinal strain (GLS) compared to controls. BMI SD and HOMA-IR were positively significantly related to LV dimensions, LA volume and epicardial adipose tissue (EAT), and negative to E/A ratio. Waist circumference (WC) was positively correlated to LV dimensions, LA volume, CIMT, PWV, AA diameter, and EAT. Furthermore, WC was a strong predictor of LV dimensions, LA volume and strain, AA stiffness and diameter; BMI SD was significantly associated with EAT, LVM index, and E/A ratio; HOMA-IR and triglycerides were significant predictors of GLS. MUO patients showed higher BMI SD (p = 0.02), WC (p = 0.001), WHtR (p = 0.001), HOMA-IR (p = 0.004), triglycerides (p = 0.01), SBP (p = 0.001), as well as LV dimensions, EAT (p = 0.03), CIMT (p = 0.01), AA diameter (p = 0.02), ß-index (p = 0.03) and PWV (p = 0.002), AA stiffness (p = 0.006), and significantly impaired GLS (p = 0.042) compared to MHO. Conclusions: Severity of overweight, abdominal obesity, insulin resistance, and MUO phenotype negatively affect cardiovascular remodeling and subclinical myocardial dysfunction in OW and OB children. MUO phenotype is likely to increase the risk of developing cardiometabolic complications since the pediatric age. Distinction between MHO and MUO phenotypes might be useful in planning a personalized follow-up approach in obese children.


Asunto(s)
Biomarcadores/análisis , Enfermedades Cardiovasculares/diagnóstico , Obesidad Metabólica Benigna/fisiopatología , Obesidad Infantil/fisiopatología , Ultrasonografía/métodos , Adolescente , Índice de Masa Corporal , Enfermedades Cardiovasculares/diagnóstico por imagen , Enfermedades Cardiovasculares/epidemiología , Grosor Intima-Media Carotídeo , Estudios de Casos y Controles , Niño , Estudios Transversales , Femenino , Estudios de Seguimiento , Humanos , Masculino , Pronóstico , Factores de Riesgo
11.
Acta Myol ; 39(4): 191-199, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33458574

RESUMEN

Duchenne muscular dystrophy (DMD) is complicated by an early and progressive left ventricular (LV) dysfunction. Despite the reduction of ejection fraction (EF) usually manifests in the second decade, subtle alterations in LV mechanics can be detected earlier. Longitudinal and circumferential LV deformation, evaluated by speckle tracking echocardiography (STE), are considered sensitive markers of early dysfunction. We retrospectively examined clinical and echocardiographic data of 32 DMD children with preserved LV function. According to the median age, patients were then divided into younger and older than 9 years, and compared to 24 age-matched healthy subjects. Six-minute-walk test (6MWT), North Star Ambulatory Assessment (NSAA), and a comprehensive cardiac evaluation were performed. Although EF was within the normal range, DMD patients had significantly lower values than healthy controls, and the same occurred for the remaining conventional systolic and diastolic indices. Global longitudinal strain (GLS) was reduced in all patients (older and younger, both p < 0.001). Global circumferential strain (GCS) was reduced only in older patients (< 0.001). Both GLS and GCS worsened with age in DMD patients (GLS p = 0.005; GCS p = 0.024). GLS was significantly worse in the apical segments and in the postero-lateral wall. GCS in the antero-septal, anterior and antero-lateral segments was significantly reduced in older patients, with a prevalent involvement of the sole septal wall in the younger boys. 6MWT appeared to be correlated inversely to GLS and directly to EF. A longitudinal evaluation should be scheduled in DMD boys to assess the global cardiac performance over time and to evaluate the impact of therapies.


Asunto(s)
Distrofia Muscular de Duchenne/complicaciones , Distrofia Muscular de Duchenne/fisiopatología , Disfunción Ventricular Izquierda/diagnóstico por imagen , Disfunción Ventricular Izquierda/etiología , Adolescente , Factores de Edad , Niño , Preescolar , Ecocardiografía , Humanos , Masculino , Actividad Motora/fisiología , Distrofia Muscular de Duchenne/diagnóstico por imagen , Estudios Retrospectivos , Volumen Sistólico , Disfunción Ventricular Izquierda/fisiopatología , Prueba de Paso
12.
Eur Heart J Cardiovasc Imaging ; 19(8): 879-887, 2018 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-29029085

RESUMEN

Aims: Bicuspid aortic valve (BAV) is associated with aortic wall alterations. We aimed to detect any correlation between aortic elasticity and genetic and biomolecular patterns of elastin. Methods and results: Forty-nine BAV patients (mean age: 38 ± 17.05) were prospectively enrolled. A blood sample was drawn for analysis of a single nucleotide polymorphism of elastin gene (ELN rs2071307) responsible for misfolding of elastin, and for the amount of elastin soluble fragments (ESF) in the plasma. Aortic dimensions and elastic properties were determined by echocardiography, aortic stiffness (AS) by M-mode analysis, and longitudinal strain (LS) of the ascending aorta (AA) by speckle-tracking echocardiography; values of aortic strain were compared with 45 age-matched subjects (mean age: 33 ± 9.67) with tricuspid aortic valve (TAV). BAV patients had greater aortic dimensions [Valsalva sinus (P = 0.004), sinotubular junction (P = 0.013), AA (P < 0.001)] and stiffness (P = 0.002) but lower LS (P = 0.04) than those with TAV. Results from comparisons of mutated genotype patients (AA, n = 10) with heterozygous (GA, n = 21) and wild-types ones (GG, n = 16) revealed that the presence of mutation was associated with increased ESF (P = 0.010 GG vs. GA; P = 0.035 GA vs. AA), larger AA (P = 0.019 GG vs. GA; P = 0.001 GG vs. AA), and lower LS (P = 0.032 GG vs. AA). Patients with a dilated AA showed greater ESF (P < 0.001), greater AS (P = 0.007), and lower LS of the AA (P = 0.002) than those with a normal AA. The same parameters were not significantly different comparing patients with moderate or severe aortic valve disease and patients with less than moderate valve disease. Conclusions: Our results show a close correlation between genetic and biomolecular patterns of elastin and mechanical properties of the aorta in patients with BAV.


Asunto(s)
Insuficiencia de la Válvula Aórtica/diagnóstico por imagen , Válvula Aórtica/anomalías , Ecocardiografía/métodos , Elastina/genética , Cardiopatías Congénitas/diagnóstico por imagen , Enfermedades de las Válvulas Cardíacas/diagnóstico por imagen , Interpretación de Imagen Asistida por Computador , Adulto , Válvula Aórtica/diagnóstico por imagen , Válvula Aórtica/fisiopatología , Insuficiencia de la Válvula Aórtica/fisiopatología , Enfermedad de la Válvula Aórtica Bicúspide , Estudios de Casos y Controles , Femenino , Regulación de la Expresión Génica , Genotipo , Cardiopatías Congénitas/fisiopatología , Enfermedades de las Válvulas Cardíacas/fisiopatología , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Valores de Referencia , Adulto Joven
13.
J Cardiovasc Med (Hagerstown) ; 18(1): 19-27, 2017 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-26406394

RESUMEN

AIMS: The need for early markers of atherosclerosis in paediatric ages has been emphasized recently. Few data are available on the behaviour of carotid intima-media thickness (cIMT) and arterial stiffness in normal children. METHODS: We studied prospectively 131 healthy children (78 boys), aged 3-16 years, by high-definition ultrasonography and echo-tracking technique in order to evaluate cIMT and stiffness index ß. RESULTS: Stiffness index ß underwent a significant age-related increase (P < 0.001), and a positive relationship between cIMT and height was found in boys. In addition, stiffness index ß and cIMT were not related to each other (P = 0.97). CONCLUSION: This study provides information about two markers of subclinical atherosclerosis, cIMT and carotid stiffness index ß, in normal children aged 3-16 years. We found a significant age-related and height-related increase of stiffness index ß in both sexes, whereas cIMT was positively related to height only in boys.


Asunto(s)
Aterosclerosis/diagnóstico por imagen , Arterias Carótidas/diagnóstico por imagen , Grosor Intima-Media Carotídeo , Rigidez Vascular , Adolescente , Estatura , Peso Corporal , Niño , Preescolar , Femenino , Voluntarios Sanos , Humanos , Modelos Lineales , Masculino , Factores de Riesgo , Ultrasonografía , Estados Unidos
14.
Pediatr Cardiol ; 37(8): 1581-1589, 2016 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-27573216

RESUMEN

Children affected by hemodynamically significant congenital heart disease (HSCHD) experience severe respiratory complications that can increase the frequency of hospitalizations. The aim of the SINERGY study was to describe the incidence of respiratory diseases and to collect information on active and passive immunoprophylaxis in the first 2 years of life. In this retrospective, multicenter, and epidemiologic study, children with HSCHD were enrolled across 11 Italian sites. Children born between December 31, 2007, and December 31, 2012, were observed during their first 2 years of life. Data were collected through hospital database searches and parent interviews. Four hundred twenty children were enrolled: 51.7 % were female, 79.5 % were born full-term (≥37 weeks), and 77.6 % weighed >2500 g at birth. The most frequent heart defects were ventricular septal defect (23.1 %) and coarctation of the aorta (14.3 %). The incidence of respiratory diseases was 63.1 %. Frequent respiratory diseases not requiring hospitalization were upper respiratory tract infections (76.4 %), acute bronchitis (43.3 %), and influenza (22.1 %), while those requiring hospitalization were bronchitis and bronchiolitis (8.3 % each one). While active immunoprophylaxis was applied with wide compliance (diphtheria/pertussis/tetanus, 99.5 %; Haemophilus influenzae type b, 72.5 %; pneumococcus, 79.9 %; meningococcus, 77.4 %), only 54 % of children received respiratory syncytial virus (RSV) passive prophylaxis (palivizumab). Of the 35 hospitalizations due to bronchiolitis, 27 (77.1 %) did not receive prophylaxis against RSV, compared with 8 (22.9 %) who received prophylaxis (P < 0.0001). Children with HSCHD are at major risk of respiratory diseases. Passive immunoprophylaxis can help to prevent hospitalizations for bronchiolitis.


Asunto(s)
Cardiopatías Congénitas , Anticuerpos Monoclonales , Anticuerpos Monoclonales Humanizados , Antivirales , Niño , Femenino , Hospitalización , Humanos , Incidencia , Italia , Masculino , Infecciones por Virus Sincitial Respiratorio , Estudios Retrospectivos
15.
Neuropsychiatr Dis Treat ; 11: 1169-74, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26056451

RESUMEN

Attention-deficit hyperactivity disorder is a frequent condition in children and often extends into adulthood. Use of immediate-release methylphenidate (MPH) has raised concerns about potential cardiovascular adverse effects within a few hours after administration. This study was carried out to investigate acute effects of MPH on electrocardiogram (ECG) in a pediatric population. A total of 54 consecutive patients with attention-deficit hyperactivity disorder (51 males and 3 females; mean age =12.14±2.6 years, range 6-19 years), receiving a new prescription of MPH, underwent a standard ECG 2 hours before and after the administration of MPH 10 mg per os. Basal and posttreatment ECG parameters, including mean QT (QT interval when corrected for heart rate [QTc]), QTc dispersion (QTd) interval duration, T-peak to T-end (TpTe) intervals, and TpTe/QT ratio were compared. Significant modifications of both QTc and QTd values were not found after drug administration. QTd fluctuated slightly from 25.7±9.3 milliseconds to 25.1±8.4 milliseconds; QTc varied from 407.6±12.4 milliseconds to 409.8±12.7 milliseconds. A significant variation in blood pressure (systolic blood pressure 105.4±10.3 vs 109.6±11.5; P<0.05; diastolic blood pressure 59.2±7.1 vs 63.1±7.9; P<0.05) was observed, but all the data were within normal range. Heart rate moved from 80.5±15.5 bpm to 87.7±18.8 bpm. No change in TpTe values was found, but a statistically significant increase in TpTe/QTc intervals was found with respect to basal values (0.207±0.02 milliseconds vs 0.214±0.02 milliseconds; P<0.01). The findings of this study show no significant changes in ECG parameters. TpTe values can be an additional parameter to evaluate borderline cases.

16.
Am J Med Genet A ; 167A(9): 2042-51, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25940952

RESUMEN

Deletions of the long arm of chromosome 6 are rare and are characterized by great clinical variability according to the deletion breakpoint. We report a on 6-year-old girl with a de novo 0.63 Mb deletion on chromosome 6q25.1 who demonstrated multiple congenital anomalies including a ventricular septal defect and an underdeveloped cerebellar vermis. She presented with severe pre- and post-natal growth failure, hyperextensible small joints (Beighton scores = 8/9; with normal parental scores), and an abnormally elastic, redundant skin. Abnormally high upper/lower segment ratio (i.e., 1.34 = > 3SD), mild dysmorphic facial features and developmental delay were also present. The girl's phenotype was compared with: (i) two girls, each previously reported by Bisgaard et al. and Caselli et al. with similar albeit larger (2.6-7.21 Mb) deletions; (ii) seven additional individuals (6 M; 1 F) harboring deletions within the 6q25.1 region reported in the literature; and (iii) ten further patients (5 M; 4 F; 1 unrecorded sex) recorded in the DECIPHER 6.0 database. We reported on the present girl as her findings could contribute to advance the phenotype of 6q deletions. In addition, the present deletion is the smallest so far recorded in the 6q25 region encompassing eight known genes [vs. 41 of Bisgaard et al., and 23 of Caselli et al.,], including the TAB2 (likely responsible for the girl's congenital heart defect), LATS1 gene, and the UST gene (a regulator of the homeostasis of proteoglycans, which could have played a role in the abnormal dermal and cartilage elasticity).


Asunto(s)
Anomalías Múltiples/genética , Vermis Cerebeloso/anomalías , Cromosomas Humanos Par 6/genética , Discapacidades del Desarrollo/genética , Cardiopatías Congénitas/genética , Inestabilidad de la Articulación/genética , Niño , Deleción Cromosómica , Elasticidad/fisiología , Femenino , Humanos
17.
Pediatr Int ; 57(4): 719-21, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-25809395

RESUMEN

Fibrodysplasia ossificans progressiva is a rare genetic disease that manifests in early life with malformed big toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites. Mutation c.617G>A in the activin A receptor type I gene is reported in all patients with fibrodysplasia ossificans progressiva. No cases of cardiac involvement have been described in children. We report the case of a child with halluces valgi at birth, along with two tender, firm, immovable masses located on the right and left parietal-occipital region, a transitory subluxation of the right hip and an unusual ventricular septal hypertrophy. We hypothesize that the ventricular septal hypertrophy could be the result of a thickening of the fibrous portion of the septum, and a possible new element of the phenotype, probably resulting from the mechanical stimuli secondary to the significant hemodynamic changes occurring at birth.


Asunto(s)
Hallux Valgus/diagnóstico , Cardiopatías Congénitas/diagnóstico , Miositis Osificante/diagnóstico , Tabique Interventricular/patología , Receptores de Activinas Tipo I/genética , Ecocardiografía , Hallux Valgus/genética , Cardiopatías Congénitas/genética , Humanos , Hipertrofia , Recién Nacido , Masculino , Mutación Missense/genética , Miositis Osificante/genética , Tomografía Computarizada por Rayos X
18.
Eur J Pediatr ; 173(9): 1123-36, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-24809802

RESUMEN

UNLABELLED: High-mobility group box protein 1 (HMGB1) is a nonhistone nuclear protein that has a dual function. Inside the cell, HMGB1 binds DNA, regulating transcription and determining chromosomal architecture. Outside the cell, HMGB1 activates the innate system and mediates a wide range of physiological and pathological responses. HMGB1 exerts these actions through differential engagement of multiple surface receptors, including Toll-like receptor (TLR)2, TLR4, and receptor for advanced glycation end products (RAGE). HMGB1 is implicated as a late mediator of sepsis and is also involved in inflammatory and autoimmune diseases, such as rheumatoid arthritis and systemic lupus erythematosus. Interestingly, HMGB1 was associated with tumor progression, becoming a potential therapeutic target, due to its involvement in the resistance to chemotherapy. Its implication on the pathogenesis of systemic vasculitis and inflammatory bowel diseases has also been evaluated. Moreover, it regulates neuroinflammation after traumatic brain injuries or cerebral infectious diseases. The aim of this review is to analyze these different roles of HMGB1, both in physiological and pathological conditions, discussing clinical and scientific implications in the field of pediatrics. CONCLUSION: HMGB1 plays a key role in several pediatric diseases, opening new scenarios for diagnostic biomarkers and therapeutic strategies development.


Asunto(s)
Enfermedades Autoinmunes/metabolismo , Proteína HMGB1/metabolismo , Enfermedades Inflamatorias del Intestino/metabolismo , Artritis Reumatoide/metabolismo , Enfermedades Autoinmunes/genética , Biomarcadores/sangre , Niño , Progresión de la Enfermedad , Productos Finales de Glicación Avanzada/metabolismo , Proteína HMGB1/genética , Humanos , Enfermedades Inflamatorias del Intestino/genética , Lupus Eritematoso Sistémico/metabolismo , Transducción de Señal , Vasculitis Sistémica/metabolismo , Receptor Toll-Like 2/metabolismo , Receptor Toll-Like 4/metabolismo
19.
Artículo en Inglés | MEDLINE | ID: mdl-24211841

RESUMEN

Atypical antipsychotics (AP) are increasingly being used in children and adolescents for the treatment of psychiatric disorders. Atypical AP may cause QT prolongation on the electrocardiogram (ECG), which predisposes patients to an increased risk of developing threatening ventricular arrhythmias. Although this phenomenon has been exhaustively reported in adults, few studies investigated the safety of these drugs in pediatric patients. We performed an open-label, prospective study to assess the arrhythmic risk of aripiprazole and risperidone in a pediatric population. A total of 60 patients (55 M/5F, mean age 10.2+2.6 years, range 4-15 years), receiving a new prescription of aripiprazole or risperidone in monotherapy underwent a standard ECG before and after two months from the beginning of antipsychotic treatment. Basal and post-treatment ECG parameters, including mean QT (QTc) and QT dispersion (QTd), were compared within treatment groups. Twenty-nine patients were treated with aripiprazole (mean dosage 7.4+3.1mg/day) and 31 with risperidone (mean dosage 1.5+1mg/day). In our series, no patient exhibited pathological values of QTc or QTd before and after treatment for both drugs. However, treatment with risperidone was associated with a slight increase of both mean QTc and QTd values (407.4+11.9 ms vs 411.2+13.0 ms, p<0.05; and 40.0+4.4 ms vs 44.7+5.5 ms, p<0.001, respectively). Treatment with aripiprazole was associated with no changes of mean QTc, even if a small increase of QTd, (40.6+6.5 ms vs 46.3+7.2 ms, p<0.01) was observed. Although our data suggest a slight effect of aripiprazole and risperidone on ventricular repolarization, it is unlikely that such a change results in clinically relevant effects. The treatment with risperidone and aripiprazole in children with psychiatric disorders is not associated with clinically relevant modifications of QT interval. Caution in prescribing these drugs, however, is necessary in patients with family history of a genetic predisposition to arrhythmias in order to warrant a reliable assessment of drug-induced QT prolongation.


Asunto(s)
Antipsicóticos/farmacología , Frecuencia Cardíaca/efectos de los fármacos , Piperazinas/farmacología , Quinolonas/farmacología , Risperidona/farmacología , Adolescente , Antipsicóticos/uso terapéutico , Aripiprazol , Niño , Preescolar , Electrocardiografía , Femenino , Humanos , Masculino , Trastornos Mentales/tratamiento farmacológico , Piperazinas/uso terapéutico , Estudios Prospectivos , Quinolonas/uso terapéutico , Estudios Retrospectivos , Risperidona/uso terapéutico
20.
G Ital Cardiol (Rome) ; 14(9): 613-21, 2013 Sep.
Artículo en Italiano | MEDLINE | ID: mdl-23903280

RESUMEN

BACKGROUND: A multidisciplinary study group was established to review and approve the informed consent froms in Pediatric Cardiology and Cardiac Surgery. METHODS: The work was carried out in several stages, starting with an analysis of what was already in use in several Italian Centers. Subsequently, shared forms for pediatric cardiac surgery and interventional catheterization procedures were developed, pointing to clarity of information, prediction of therapeutic options, quantification for verbal categories of risk associated with cardiac surgery procedures, and provision of information also to young patients. RESULTS: Two versions of informed consent for pediatric cardiac surgery and pediatric interventional catheterization procedures were developed. CONCLUSION: The work oerformed by the multidisciplinary study group, under the supervision of the Italian Society of Pediatric Cardiology and the Section of Surgery for Congenital Heart Disease of the Italian Society for Cardiac Surgery, resulted in a clear and evolutionary summary of the relationship between available therapeutic options and the patient needs to understand and share the healthcare pathway in terms of risk and perspectives.


Asunto(s)
Procedimientos Quirúrgicos Cardíacos , Cardiología , Consentimiento Informado/normas , Pediatría , Cirugía Torácica , Niño , Humanos , Registros , Factores de Riesgo
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