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AIMS: Three physical signs, namely tendon xanthomas, corneal arcus and xanthelasma, have been associated with heterozygous familial hypercholesterolemia (heFH). The prevalence and clinical significance of these signs are not well established among contemporary heFH individuals. This study explored the frequency as well as the association of these physical signs with prevalent atherosclerotic cardiovascular disease (ASCVD) in heFH individuals. METHODS: Data from the Hellenic Familial Hypercholesterolemia Registry were applied for this analysis. The diagnosis of heFH was based on the Dutch Lipid Clinic Network Score. Multivariate logistic regression analysis was conducted to examine the association of heFH-related physical signs with prevalent ASCVD. RESULTS: Adult patients ( n â=â2156, mean age 50â±â15âyears, 47.7% women) were included in this analysis. Among them, 14.5% had at least one heFH-related physical sign present. The prevalence of corneal arcus before the age of 45âyears was 6.6%, tendon xanthomas 5.3%, and xanthelasmas 5.8%. Among physical signs, only the presence of corneal arcus before the age of 45âyears was independently associated with the presence of premature coronary artery disease (CAD). No association of any physical sign with total CAD, stroke or peripheral artery disease was found. Patients with physical signs were more likely to receive higher intensity statin therapy and dual lipid-lowering therapy, but only a minority reached optimal lipid targets. CONCLUSION: The prevalence of physical signs is relatively low in contemporary heFH patients. The presence of corneal arcus before the age of 45âyears is independently associated with premature CAD.
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Arco Senil , Aterosclerosis , Enfermedades Cardiovasculares , Enfermedad de la Arteria Coronaria , Hipercolesterolemia , Hiperlipoproteinemia Tipo II , Xantomatosis , Adulto , Humanos , Femenino , Persona de Mediana Edad , Anciano , Masculino , Enfermedades Cardiovasculares/epidemiología , Arco Senil/diagnóstico , Arco Senil/epidemiología , Arco Senil/etiología , Heterocigoto , Hiperlipoproteinemia Tipo II/complicaciones , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/tratamiento farmacológico , Aterosclerosis/epidemiología , Hipercolesterolemia/complicaciones , Enfermedad de la Arteria Coronaria/etiología , Enfermedad de la Arteria Coronaria/complicaciones , Lípidos , Sistema de Registros , Xantomatosis/etiología , Xantomatosis/complicacionesRESUMEN
BACKGROUND: Familial hypercholesterolemia (FH) and obesity are well-established risk factors of atherosclerotic cardiovascular disease (ASCVD). Despite high prevalence, their joint association with ASCVD remains largely unknown. OBJECTIVE: To investigate the association of obesity with prevalent ASCVD in individuals with heterozygous FH (HeFH) enrolled in the Hellenic Familial Hypercholesterolemia Registry (HELLAS-FH). METHODS: FH diagnosis was based on Dutch Lipid Clinic Network (DLCN) criteria. Adults with at least possible FH diagnosis (DLCN score ≥3) and available body mass index (BMI) values were included. Homozygous FH individuals were excluded. RESULTS: 1655 HeFH adults (mean age 51.0 ± 14.4 years, 48.6% female) were included; 378 (22.8%) and 430 (26.0%) were diagnosed with probable and definite FH, respectively. Furthermore, 371 participants (22.4%) had obesity and 761 (46.0%) were overweight. Prevalence of ASCVD risk factors increased progressively with BMI. Prevalence of coronary artery disease (CAD) was 23.4% (3.2% for stroke and 2.7% for peripheral artery disease [PAD]), and increased progressively across BMI groups. After adjusting for traditional ASCVD risk factors and lipid-lowering medication, individuals with obesity had higher odds of established CAD (OR: 1.54, 95% CI: 1.04-2.27, p = 0.036) as well as premature CAD (OR: 1.74, 95% CI: 1.17-2.60, p = 0.009) compared with those with normal BMI. No association was found with stroke or PAD. CONCLUSIONS: Over half of adults with HeFH have overweight or obesity. Obesity was independently associated with increased prevalence of CAD in this population.
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Aterosclerosis , Heterocigoto , Hiperlipoproteinemia Tipo II , Obesidad , Sistema de Registros , Humanos , Femenino , Masculino , Hiperlipoproteinemia Tipo II/complicaciones , Hiperlipoproteinemia Tipo II/epidemiología , Hiperlipoproteinemia Tipo II/genética , Persona de Mediana Edad , Obesidad/complicaciones , Obesidad/epidemiología , Aterosclerosis/epidemiología , Aterosclerosis/complicaciones , Adulto , Índice de Masa Corporal , Factores de Riesgo , Prevalencia , AncianoRESUMEN
BACKGROUND: Familial hypercholesterolemia (FH) carries a high risk of atherosclerotic cardiovascular disease (ASCVD). As the population ages, the age-related influence on clinical characteristics and outcomes becomes increasingly pertinent. This cross-sectional analysis from the HELLAS-FH registry aims to explore potential differences in clinical characteristics, treatment, ASCVD, and goal achievement between those younger and older than 65 years with FH. RESULTS: A total of 2273 adults with heterozygous FH (51.4% males) were studied. Elderly FH patients (n = 349) had a higher prevalence of ASCVD risk factors, such as hypertension (52.1% vs. 20.9%, p < 0.05) and type 2 diabetes (16.9% vs. 6.0%, p < 0.05), compared to younger patients (n = 1924). They also had a higher prevalence of established ASCVD (38.4% vs. 23.1%, p < 0.001), particularly CAD (33.0% vs. 20.2%, p < 0.001), even after adjusting for major ASCVD risk factors. Elderly patients were more frequently and intensively receiving lipid-lowering treatment than younger ones. Although post-treatment LDL-C levels were lower in elderly than younger patients (125 vs. 146 mg/dL, p < 0.05), both groups had similar attainment of the LDL-C target (3.7% vs. 3.0%). CONCLUSIONS: Elderly FH patients have a higher prevalence of ASCVD, particularly CAD. Despite more aggressive treatment, the achievement of LDL-C targets remains very poor. These results emphasize the importance of early FH diagnosis and treatment in reducing ASCVD.
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BACKGROUND: Cathelicidin has been correlated with the pathophysiology of atopic dermatitis (AD). An indirect correlation of vitamin D with the course of the disease has already been reported as it directly affects the levels of cathelicidin. The purpose of the present article is to investigate the impact of vitamin D supplementation on the course of AD. METHODS: We conducted a prospective observational study. The severity of AD was assessed with the clinical tool SCORAD (SCORing Atopic Dermatitis) which is developed by the European Task Force on AD. RESULTS: Fifty children with AD were enrolled and stratified in two groups based on the severity of SCORAD. Children with severe AD (SCORAD Index >40) received higher doses of vitamin D in order to sufficiently reduce the disease (comparable SCORAD Index for children with mild atopic dermatitis). While the baseline SCORAD differed statistically significant level between the two groups of children with AD (P<0.001) this difference disappeared at 20 (P=0.649) days and remained statistically insignificant both at 45 days (P=0.610), and at the end of the administration of treatment (P=0.474). This effect was based on a significant downregulation of the severity of symptoms in the group of children that received 2400 IU of vitamin D. CONCLUSIONS: The findings of our study suggest that vitamin D may be accurately used in current clinical practice for the management of AD. However, the recommended dose should be titrated taking in mind the severity of the disease.
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Catelicidinas , Dermatitis Atópica , Humanos , Niño , Catelicidinas/uso terapéutico , Dermatitis Atópica/tratamiento farmacológico , Dermatitis Atópica/diagnóstico , Índice de Severidad de la Enfermedad , Vitamina D/uso terapéutico , Vitaminas/uso terapéutico , Suplementos Dietéticos , Progresión de la EnfermedadRESUMEN
Pediatric chronic kidney disease (CKD) patients, as well as kidney transplant patients, are at an increased risk of developing cardiovascular disease. BNP measurement, as a biomarker of cardiovascular risk, has been recommended to this high-risk population. Plasma BNP levels were measured in 56 CKD children in either pre-dialysis stage, hemodialysis (HD) or renal transplant recipients (RTRs) and in 76 sex- and age-matched healthy controls. BNP levels were investigated in HD children, before and after the completion of their HD session. BNP levels in total CKD population, in pre-dialysis stage patients and on HD were significantly higher, compared to the respective controls. HD children had higher BNP levels compared to CKD patients in the pre-dialysis stage. Moreover, post-HD BNP concentration was slightly higher than pre-HD, with the difference being marginally statistically significant. BNP was positively correlated with eGFR, creatinine, cystatin-C and parathormone and negatively with albumin and 25-hydroxyvitamin D. A positive correlation between BNP concentration and the ratio of E/A in pulse-wave Doppler echocardiography was also observed. In conclusion, CKD pediatric patients, mainly those undergoing HD, have high plasma BNP levels which do not decrease after the HD session. This is indicative of a greater risk for future cardiovascular disease.
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BACKGROUND: In recent years a new term in the field of eating behaviors has emerged, namely "orthorexia". This behavior is associated with significant dietary restrictions and omission of food groups. The aim of the present study is to estimate the possible correlations between orthorexia and eating disorders in young adults and adolescents. METHODS: A systematic review of related articles in PubMed, Google Scholar, and PsycInfo was conducted up to 30 June 2021. RESULTS: A total of 37 studies (16,402 subjects) were considered eligible for this systematic review. Significant correlations were observed in most of the studies between orthorexia and eating disorders. However, the majority of studies adopted a cross-sectional design. CONCLUSIONS: An association between and eating disorders emerged. Prospective studies seem necessary to investigate associations and succession of orthorexia and eating disorders over time.
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AIMS: Lipoprotein(a) [Lp(a)] is an independent risk factor for atherosclerotic cardiovascular disease (ASCVD) in the general population. However, such a role in patients with familial hypercholesterolemia (FH) is less documented. The purpose of this study was to evaluate the association between Lp(a) concentrations and ASCVD prevalence in adult patients with FH. METHODS: This was a cross-sectional study from the Hellenic Familial Hypercholesterolemia Registry (HELLAS-FH). Patients were categorized into 3 tertiles according to Lp(a) levels. RESULTS: A total of 541 adult patients (249 males) with possible/probable/definite FH heterozygous FH (HeFH) were included (mean age 48.5 ± 15.0 years at registration, 40.8 ± 15.9 years at diagnosis). Median (interquartile range) Lp(a) concentrations in the 1st, 2nd and 3rd Lp(a) tertile were 6.4 (3.0-9.7), 22.4 (16.0-29.1) and 77.0 (55.0-102.0) mg/dL, respectively. There was no difference in lipid profile across Lp(a) tertiles. The overall prevalence of ASCVD was 9.4% in the first, 16.1% in the second and 20.6% in the third tertile (p = 0.012 among tertiles). This was also the case for premature ASCVD, with prevalence rates of 8.5, 13.4 and 19.8%, respectively (p = 0.010 among tertiles). A trend for increasing prevalence of coronary artery disease (8.3, 12.2 and 16.1%, respectively; p = 0.076 among tertiles) was also observed. No difference in the prevalence of stroke and peripheral artery disease was found across tertiles. CONCLUSIONS: Elevated Lp(a) concentrations are significantly associated with increased prevalence of ASCVD in patients with possible/probable/definite HeFH.
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Aterosclerosis , Enfermedades Cardiovasculares , Hiperlipoproteinemia Tipo II , Adulto , Aterosclerosis/epidemiología , Aterosclerosis/etiología , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/etiología , Estudios Transversales , Femenino , Humanos , Hiperlipoproteinemia Tipo II/complicaciones , Hiperlipoproteinemia Tipo II/epidemiología , Lipoproteína(a) , Masculino , Persona de Mediana Edad , Factores de Riesgo , Adulto JovenRESUMEN
Familial hypercholesterolemia (FH) and type 2 diabetes mellitus (T2DM) are both associated with a high risk of atherosclerotic cardiovascular disease (ASCVD). Little is known about the prevalence of T2DM and its association with ASCVD risk in FH patients. This was a cross-sectional analysis from the Hellenic Familial Hypercholesterolemia Registry (HELLAS-FH) including adults with FH (n = 1719, mean age 51.3 ± 14.6 years). Of FH patients, 7.2% had a diagnosis of T2DM. The prevalence of ASCVD, coronary artery disease (CAD), and stroke was higher among subjects with T2DM compared with those without (55.3% vs. 23.3%, 48.8% vs. 20.7%, 8.3% vs. 2.7%, respectively, p < 0.001). When adjusted for age, systolic blood pressure, smoking, body mass index, hypertension, waist circumference, triglyceride levels, high-density lipoprotein cholesterol levels, and gender, T2DM was significantly associated with prevalent ASCVD [OR 2.0 (95% CI 1.2−3.3), p = 0.004]. FH patients with T2DM were more likely to have undergone coronary revascularization than those without (14.2% vs. 4.5% for coronary artery bypass graft, and 23.9% vs. 11.5% for percutaneous coronary intervention, p < 0.001). T2DM is associated with an increased risk for prevalent ASCVD in subjects with FH. This may have implications for risk stratification and treatment intensity in these patients.
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BACKGROUND: The 2019 European guidelines (ESC/EAS) for the treatment of dyslipidaemias recommend more aggressive targets for low-density lipoprotein cholesterol (LDL-C) in patients with familial hypercholesterolemia (FH). Current lipid-lowering treatment is often inadequate to achieve these targets. METHODS: Data from the HELLAS-FH registry were analysed to assess achievement of LDL-C targets in adults with FH based on the 2019 ESC/EAS guidelines. In patients who had not achieved LDL-C target, the maximally reduced LDL-C value was calculated after theoretical switch to rosuvastatin/ezetimibe 40/10 mg/day. The percentage of patients who remained candidates for proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9i) was then calculated. RESULTS: Patients (n = 1694, mean age 50.8 ± 14.7 years) had LDL-C levels 242 ± 71 mg/dL (6.3 ± 1.8 mmol/L) at diagnosis. Most treated patients were receiving statins (97.5%) and about half were on additional ezetimibe (47.5%). Based on the 2019 ESC/EAS guidelines the percentage of patients achieving LDL-C goals was only 2.7%. Following theoretical up titration to rosuvastatin/ezetimibe 40/10 mg, LDL-C target achievement rate would increase to 5.9%. In this scenario, most patients (55.9%) would be eligible for PCSK9i treatment. Following theoretical administration of a PCSK9i, LDL-C target achievement rate would rise to 57.6%. However, 42.4% of patients would still be eligible for further LDL-C lowering treatment. CONCLUSIONS: Most FH patients do not reach new LDL-C targets even if on maximum intensity statin/ezetimibe treatment. In this case, more than half of FH patients are candidates for PCSK9i therapy and a considerable proportion may still require additional LDL-C lowering.
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Anticolesterolemiantes , Inhibidores de Hidroximetilglutaril-CoA Reductasas , Hiperlipoproteinemia Tipo II , Adulto , Anciano , Anticolesterolemiantes/uso terapéutico , LDL-Colesterol , Ezetimiba/uso terapéutico , Humanos , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/tratamiento farmacológico , Lípidos , Persona de Mediana Edad , Proproteína Convertasa 9RESUMEN
Polycystic ovary syndrome (PCOS) is the most common endocrine condition affecting 6-18% of adolescents and is strongly associated with obesity and cardiovascular risk factors, enhancing the risk of atherosclerosis. Thirty-two adolescents with newly diagnosed PCOS were evaluated for lipid profile disorders, insulin resistance, inflammation, non-alcoholic fatty liver disease (NAFLD), and subclinical atherosclerosis through measurements of carotid intima-media thickness (cIMT). The relationships of the above markers with increased body mass index and abdominal obesity were investigated. Twenty-three adolescents (72%) were overweight (OW) or obese (OB). The OW/OB group had significantly higher insulin, HOMA-IR, high-sensitive C-reactive protein (hsCRP), visceral adiposity index (VAI), and lipid accumulation product (LAP) levels; and lower glucose-per-insulin ratios and HDL-C levels compared to the healthy weight group. The cIMT and small dense low-density lipoprotein cholesterol (sdLDL-C) levels did not differ between the two groups. Similarly, cIMT and sdLDL-C levels did not differ between PCOS-adolescents and healthy controls. CIMT was positively correlated with systolic blood pressure and waist circumference per height ratio. In conclusion, OW/OB PCOS-adolescents have a cluster of adverse factors predisposing them to atherosclerotic cardiovascular disease. Therefore, early cardiovascular risk assessment, as well as timely and targeted interventions, are necessary for prevention.
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METHODS: Cross-sectional survey conducted with an anonymous questionnaire of 34 items distributed to pediatricians via an online platform. Four hundred questionnaires were sent, and 256 were returned and analyzed using STATA 13. Data collection included demographics, questions on knowledge, perceptions, and opinions, as well as advice given to families. RESULTS: The majority of doctors felt that vaccination in children with RDs is essential. Responders were using a variety of guidelines to reach a clinical decision. Fifty percent were hesitant to adhere to the national vaccination scheme without expert input. Reasons were as follows: not convinced from current literature that the vaccine is safe (32%), afraid to cause disease flare (43%), and unable to deal with parental concerns/refusal (54%). Twelve percent of responders felt that the RD may have been triggered by a vaccine. The majority (82%) of doctors were pro annual influenza vaccination. Seventy percent of doctors were keener to administer booster doses rather than primary ones. CONCLUSIONS: Variation in opinion and clinical practice exists. Overall, although general pediatricians are informed regarding efficacy and adverse effects of immunizations in patients with RDs, there are steps to be made from principle to practice. Vaccinating these children is of vital importance, and primary care pediatricians should be updated regarding existing guidelines referring to this field.
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Enfermedades Reumáticas , Vacunación , Niño , Estudios Transversales , Humanos , Inmunización , Pediatras , Atención Primaria de Salud , Encuestas y CuestionariosRESUMEN
Carotid intima-media thickness (cIMT) has been proposed as an early marker of subclinical atherosclerosis in high risk children. Children with heterozygous familial hypercholesterolemia have greater cIMT than matched healthy controls or their unaffected siblings. Statin therapy may delay the progression of cIMT, although long-term studies in children are scarce. We evaluated the effect of atorvastatin treatment on cIMT in children with dyslipidemia. We studied 81 children/adolescents, 27 with severe dyslipidemia (low-density lipoprotein cholesterol [LDL-C] ≥190 mg/dL) and 54 sex- and age-matched healthy controls; LDL-C ≤ 130 mg/dL and lipoprotein (a), Lp(a), ≤30 mg/dL. In the children with dyslipidemia, cIMT was measured twice, before and on treatment (18.2 ± 7.7 months). Anthropometric data, a full lipid profile, liver, kidney, and thyroid function were evaluated. Males with dyslipidemia had a greater cIMT than male controls after adjustment for other factors (P = .049). In addition, a nonstatistically significant decrease in cIMT was observed after treatment (P = .261). Treatment with atorvastatin resulted in a significantly improved lipid profile. Females with dyslipidemia had a significantly thinner cIMT than males. Children with normal and high Lp(a) levels had similar cIMT values. In conclusion, treatment with atorvastatin had a beneficial effect on the lipid profile and cIMT progression in children with severe dyslipidemia.
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Atorvastatina/administración & dosificación , Enfermedades de las Arterias Carótidas/prevención & control , Grosor Intima-Media Carotídeo , LDL-Colesterol/sangre , Inhibidores de Hidroximetilglutaril-CoA Reductasas/administración & dosificación , Hiperlipoproteinemia Tipo II/tratamiento farmacológico , Lipoproteína(a)/sangre , Adolescente , Factores de Edad , Biomarcadores/sangre , Enfermedades de las Arterias Carótidas/diagnóstico por imagen , Enfermedades de las Arterias Carótidas/etiología , Estudios de Casos y Controles , Niño , Esquema de Medicación , Femenino , Humanos , Hiperlipoproteinemia Tipo II/sangre , Hiperlipoproteinemia Tipo II/diagnóstico , Masculino , Valor Predictivo de las Pruebas , Factores de Riesgo , Índice de Severidad de la Enfermedad , Factores Sexuales , Factores de Tiempo , Resultado del TratamientoRESUMEN
BACKGROUND: Familial hypercholesterolemia (FH) is characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels and increased cardiovascular disease (CVD) risk. FH patients often have increased lipoprotein(a) [Lp(a)] levels, which further increase CVD risk. Novel methods for accurately calculating LDL-C have been proposed. METHODS: Patients with FH were recruited by a network of Greek sites participating in the HELLAS-FH registry. LDL-C levels were calculated using the Friedewald (LDL-CF) and the Martin/Hopkins (LDL-CM/H) equations as well as after correcting LDL-CM/H for Lp(a) levels [LDL-CLp(a)corM/H]. The objective was to compare LDL-C levels and target achievement as estimated by different methods in FH patients. RESULTS: This analysis included 1620 patients (1423 adults and 197 children). In adults at diagnosis, LDL-CF and LDL-CM/H levels were similar [235 ± 70 mg/dL (6.1 ± 1.8 mmol/L) vs 235 ± 69 mg/dL (6.1 ± 1.8 mmol/L), respectively; P = NS], while LDL-CLp(a)corM/H levels were non-significantly lower than LDL-CF [211 ± 61 mg/dL (5.5 ± 1.6 mmol/L); P = 0.432]. In treated adults (n = 966) both LDL-CF [150 ± 71 mg/dL (3.9 ± 1.8 mmol/L)] and LDL-CM/H levels [151 ± 70 mg/dL (6.1 ± 1.8 mmol/L); P = 0.746] were similar, whereas LDL-CLp(a)corM/H levels were significantly lower than LDL-CF [121 ± 62 mg/dL (3.1 ± 1.6 mmol/L); P < 0.001]. Target achievement as per latest guidelines in treated patients using the LDL-CM/H (2.5%) and especially LDL-CLp(a)corM/H methods (10.7%) were significantly different than LDL-CF (2.9%; P < 0.001). In children, all 3 formulas resulted in similar LDL-C levels, both at diagnosis and in treated patients. However, target achievement by LDL-CF was lower compared with LDL-CM/H and LDL-CLp(a)corM/H methods (22.1 vs 24.8 vs 33.3%; P < 0.001 for both comparisons). CONCLUSION: LDL-CLp(a)corM/H results in significantly lower values and higher target achievement rate in both treated adults and children. If validated in clinical trials, LDL-CLp(a)corM/H may become the method of choice to more accurately estimate 'true' LDL-C levels in FH patients.
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Anticolesterolemiantes/uso terapéutico , Técnicas de Química Analítica/métodos , LDL-Colesterol/sangre , Hiperlipoproteinemia Tipo II/sangre , Lipoproteína(a)/sangre , Sistema de Registros , Adolescente , Adulto , Anciano , Niño , Preescolar , Femenino , Grecia , Humanos , Hiperlipoproteinemia Tipo II/tratamiento farmacológico , Hipolipemiantes/uso terapéutico , Masculino , Persona de Mediana EdadRESUMEN
BACKGROUND: Andersen-Tawil Syndrome type 1 (ATS1) is a rare arrhythmogenic disorder, caused by loss-of-function mutations in the KCNJ2 gene. We present here the largest cohort of patients with ATS1 with outcome data reported. OBJECTIVES: This study sought to define the risk of life-threatening arrhythmic events (LAE), identify predictors of such events, and define the efficacy of antiarrhythmic therapy in patients with ATS1. METHODS: Clinical and genetic data from consecutive patients with ATS1 from 23 centers were entered in a database implemented at ICS Maugeri in Pavia, Italy, and pooled for analysis. RESULTS: We enrolled 118 patients with ATS1 from 57 families (age 23 ± 17 years at enrollment). Over a median follow-up of 6.2 years (interquartile range: 2.7 to 16.5 years), 17 patients experienced a first LAE, with a cumulative probability of 7.9% at 5 years. An increased risk of LAE was associated with a history of syncope (hazard ratio [HR]: 4.54; p = 0.02), with the documentation of sustained ventricular tachycardia (HR 9.34; p = 0.001) and with the administration of amiodarone (HR: 268; p < 0.001). The rate of LAE without therapy (1.24 per 100 person-years [py]) was not reduced by beta-blockers alone (1.37 per 100 py; p = 1.00), or in combination with Class Ic antiarrhythmic drugs (1.46 per 100 py, p = 1.00). CONCLUSIONS: Our data demonstrate that the clinical course of patients with ATS1 is characterized by a high rate of LAE. A history of unexplained syncope or of documented sustained ventricular tachycardia is associated with a higher risk of LAE. Amiodarone is proarrhythmic and should be avoided in patients with ATS1.
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Síndrome de Andersen/complicaciones , Arritmias Cardíacas/etiología , Medición de Riesgo , Adolescente , Antagonistas Adrenérgicos beta/uso terapéutico , Adulto , Amiodarona/administración & dosificación , Amiodarona/efectos adversos , Síndrome de Andersen/genética , Síndrome de Andersen/terapia , Antiarrítmicos/administración & dosificación , Antiarrítmicos/efectos adversos , Arritmias Cardíacas/terapia , Niño , Preescolar , Bases de Datos Factuales , Muerte Súbita Cardíaca/epidemiología , Desfibriladores Implantables , Electrocardiografía , Femenino , Pruebas Genéticas , Humanos , Lactante , Masculino , Persona de Mediana Edad , Debilidad Muscular/etiología , Mutación , Canales de Potasio de Rectificación Interna/genética , Síncope/etiología , Síncope/terapia , Taquicardia Ventricular/etiología , Taquicardia Ventricular/terapia , Adulto JovenRESUMEN
BACKGROUND AND PURPOSE: The high prevalence of antiphospholipid antibodies (aPL) and antinuclear antibodies (ANA) in patients with epilepsy may be associated with either the disease itself or the antiepileptic treatment. The purpose of this prospective study was to determine the prevalence of aPL and ANA in children with idiopathic epilepsy before and during treatment with antiepileptic drugs. METHODS: aPL, including both anticardiolipin and anti-ß2-glycoprotein I antibodies, and ANA statuses were determined in 40 healthy children, 30 children treated with sodium valproate (VPA) monotherapy, and 20 children treated with carbamazepine (CBZ) monotherapy before and at 6, 12, and 24 months after treatment initiation. RESULTS: Fifteen children (50%) in the VPA-treated group and 7 (35%) in the CBZ-treated group showed positivity for aPL before treatment initiation, compared with only 4 of the 40 controls. Nine children (30%) in the VPA-treated group and 4 (20%) in the CBZ-treated group showed positivity for ANA before treatment initiation, compared with only 2 of the 40 controls. The subgroup analysis found nonsignificant associations at the different time points regarding the positivity of all of the autoantibodies. Only patients treated with VPA had a significantly decreased risk of aPL positivity after 6 months of treatment. CONCLUSIONS: The increased prevalence of autoantibodies in children with idiopathic epilepsy is strongly associated with the disease itself.
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A 5.5-month-old female infant with tuberous sclerosis complex presented with infantile spasms and was treated with vigabatrin. As her condition did not improve, she was given adrenocorticotropic hormone (ACTH) intramuscularly which stopped the spasms and improved the electroencephalogram (EEG) abnormalities. However, she developed encephalopathy with apathy, drowsiness, and generalized slowing in the EEG. Discontinuation of vigabatrin quickly improved her symptoms and reversed the EEG slowing. A high index of suspicion is required in order to diagnose vigabatrin-induced encephalopathy, especially as the underlying disorders of these patients can be erroneously considered the cause of the observed encephalopathy.
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Multiple sclerosis is a chronic, debilitating disease. Almost one in ten patients with MS has a history of disease onset during childhood. Although numerous therapeutic options exist for adult MS, the available treatments for pediatric patients are still limited. One of the emerging therapies is rituximab, a monoclonal anti-CD20 chimeric antibody that can deplete the CD20+ lymphocyte populations. A 12-year-old boy presented with ataxia, paresthesias, and headache while his brain MRI showed numerous T2 contrast-enhancing lesions. Gamma globulin, steroids, and cyclophosphamide failed to intercept his disease, and he progressed to a rapid clinical and radiological deterioration. Treatment with rituximab reversed the disease course in a dramatic fashion, leading to complete remission.
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Long-term treatment with some older antiepileptic drugs may lead to dyslipidemia or thyroid disturbances. The effect of levetiracetam (LEV), a newer broad spectrum antiepileptic agent, on cardiovascular risk factors is not yet sufficiently investigated. The purpose of this study was to investigate prospectively the effect of LEV monotherapy on serum lipid profile and thyroid hormones levels in children with epilepsy. The study population consisted of 39 children (21 females, 18 males, mean age 6.8 ± 4,1 years, range 2-15 years) that were treated for new-onset epilepsy with LEV monotherapy. Serum total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), triglycerides (TGs), apolipoprotein A-I (apo A-I), apolipoprotein B (apo B), lipoprotein (a) [Lp(a)], thyroxine (T4), free thyroxine (FT4) and thyrotropin (TSH), were evaluated before and at 6 and 12 (n = 28) months of LEV monotherapy. TGs were significantly decreased at 6 and 12 months of LEV treatment (p = 0.026 and p = 0.001, respectively). TGs/HDL-C ratio was significantly decreased at 6 and 12 months of LEV treatment (p = 0.024 and p = 0.003, respectively), while LDL-C/HDL-C ratio was significantly decreased at 12 months of LEV treatment (p = 0.025). There were no significant alterations in the other parameters during the study. In conclusion, long-term LEV monotherapy does not cause adverse alterations on thyroid hormones and serum lipids in children with epilepsy. More studies are needed to clarify whether LEV monotherapy have a favourable effect on serum lipids and whether LEV may be considered as a safer alternative drug for the prevention of antiepileptic drug-induced cardiovascular complications in adult life.