Clinical manifestations in trisomy 9 mosaicism.

Pejcic L, Stankovic T, Ratkovic-Jankovic M, Vasic K, Nikolic I. Clinical manifestations in trisomy 9 mosaicism. Turk J Pediatr 2018; 60: 729- 734. Trisomy 9 is a rare chromosome abnormality which can occur in a mosaic or nonmosaic state with similar clinical features. The authors present a male with mosaic trisomy 9 from birth to 6 months of life. Clinical manifestations included growth retardation, facial dysmorphism with marked hemi facial hypoplasia and facial asymmetry, single palmar flexion crease, retro calcaneovalgus feet, atrial septal defect, undescended testes and hypospadia. He had several episodes of seizures and ultrasound examination described severe ventriculomegaly, with poorly differentiated parenchyme. These findings are compared to the other previously described cases of trisomy 9 mosaicism through a review of literature.

Blood pressure variability and left ventricular mass index in children.

Clinical implications of blood pressure variability (BPV) on subclinical organ damage in children are unknown. The authors sought to explore the potential utility of two newly derived BPV indices: weighted standard deviation (wBPSD) and real average variability (ARV), as well as two standard ambulatory blood pressure indices: average 24-hour systolic blood pressure (SBP) and 24-hour SBP load, to identify children at high risk for left ventricular (LV) hypertrophy (LVH). The study group consisted of 67 consecutive children who were referred to our institution for evaluation of suspected hypertension. LV mass was estimated by M-mode echocardiography using Devereux's formula according to the Penn convention and indexed for height(2.7) . We found a statistically significant, positive correlation between 24-hour wBPSD and LV mass index (LVMI) (ρ=0.389; P=.002) and no correlation between 24-hour ARV and LVMI (P>.05). However, partial correlation analysis of 24-hour wBPSD adjusted for body mass index (BMI) and LVMI showed only a weak correlation (ρ=0.3; P=.022). By using multiple linear regression analysis in a model with LVMI as a dependent variable and 24-hour wBPSD, 24-hour ARV, and BMI as independent variables, only BMI showed statistically significant independent positive associations with LVMI (P=.028). Results of our study showed that currently used BPV indices (24-hour wBPSD and 24-hour ARV) are not clinically reliable parameters to identify children at risk for LVH. Apparent contribution of the 24-hour wBPSD parameter to LVMI is negligible and is secondary to its close correlation with BMI (ρ=0.335 P=.009).

A Deficiência de vitamina d está associada com níveis aumentados de il-17 e tnfα em pacientes com insuficiência cardíaca crônica / Vitamin d deficiency is associated with increased il-17 and tnfα levels in patients with chronic heart failure / La deficiencia de vitamina D está asociada a niveles aumentados de IL-17 y Tnfα en pacientes con insuficiencia cardíaca crónica

FUNDAMENTO: Estudos recentes revelaram uma forte associação entre o estado de vitamina D (VD) e a insuficiência cardíaca crônica (ICC). Hoje, é normalmente aceito que a resposta imune pró-inflamatória é subjacente ao desenvolvimento de ICC. OBJETIVO: Uma vez que a VD possui propriedades anti-inflamatórias, pesquisamos o seu impacto sobre as citocinas envolvidas na ICC, como TNFα e IL-17, em pacientes portadores de ICC. MÉTODOS: Foi extraído sangue de quarenta pacientes com ICC secundária à hipertensão arterial e/ou doença coronariana. Os níveis de VD status, IL-17 e TNFαforam avaliados através de 25-hidroxi VD3 EIA e ELISA de citocinas. Também foram realizadas avaliação clínica e ecocardiograma. RESULTADOS: Pacientes idosos com ICC em Nis (Sudeste da Europa, latitude 43ºN) apresentaram níveis de 25-hidroxi VD3 abaixo do normal. Nossos dados demonstraram que pacientes com ICC secundária à hipertensão arterial têm níveis significativamente menores de 25-hidroxi VD3, e maiores de TNFαe IL-17A, se comparados com os níveis de pacientes com ICC secundária à doença coronariana. CONCLUSÃO: É demonstrado aqui que, mesmo em regiões com muitos dias ensolarados a deficiência de VD é motivo de preocupação. Os dados sugerem que o déficit de VD contribui para os elevados níveis de IL-17 e TNFα e, assim, contribuir ao desenvolvimento de ICC.

BACKGROUND: Recent studies revealed a strong association between vitamin D (VD) status and chronic heart failure (CHF). It is now commonly considered that proinflammatory immune response underlies CHF development. OBJECTIVE: Since VD expresses anti-inflammatory properties, we investigated its impact on cytokines implicated in CHF, such as TNFα and IL-17, in patients suffering from CHF. METHODS: Blood was obtained from forty patients with CHF secondary to hypertension and/or coronary heart disease. VD status, IL-17 and TNFαlevels were assessed using 25-hydroxy VD3 EIA and cytokine ELISAs. Clinical assessment and echocardiography was also performed. RESULTS: Elderly patients with CHF in Nis (Southeast Europe, latitude 43ºN) exhibited 25-hydroxy VD3 levels below normal. Our data identified that patients with CHF secondary to hypertension have significantly lower 25-hydroxy VD3, increased TNFα and IL-17A levels in comparison to donors with CHF secondary to coronary disease. CONCLUSION: This study reveals that even in regions with a lot of sunny days VD deficiency represents a concerning issue. Data suggest that impaired VD status contributes to high IL-17 and TNFα levels and thereby may support CHF development.

FUNDAMENTO: Estudios recientes revelaron una fuerte asociación entre el estado de la vitamina D (VD) y la insuficiencia cardíaca crónica (ICC). Hoy, es normalmente aceptado que la respuesta inmune pro-inflamatoria es subyacente al desarrollo de ICC. OBJETIVO: Una vez que la VD posee propiedades antiinflamatorias, investigamos su impacto sobre las citocinas envueltas en la ICC, como TNFα y IL-17, en pacientes portadores de ICC. MÉTODOS: Fue extraída sangre de cuarenta pacientes con ICC secundaria a la hipertensión arterial y/o enfermedad coronaria. Los niveles de VD status, IL-17 y TNFα fueron evaluados a través de 25-hidroxi VD3 EIA y ELISA de citocinas. También fueron realizadas evaluación clínica y ecocardiograma. RESULTADOS: Pacientes añosos con ICC en Nis (Sudeste de Europa, latitud 43ºN) presentaron niveles de 25-hidroxi VD3 debajo de lo normal. Nuestros datos demostraron que pacientes con ICC secundaria a la hipertensión arterial tienen niveles significativamente menores de 25-hidroxi VD3, y mayores de TNFα y IL-17A, si son comparados con los niveles de pacientes con ICC secundaria a la enfermedad coronaria. CONCLUSIONES: Es demostrado aquí que, aun en regiones con muchos días de sol la deficiencia de VD es motivo de preocupación. Los datos sugieren que el déficit de VD contribuye para los elevados niveles de IL-17 y TNFα y, así, al desarrollo de ICC.

Vitamin D deficiency is associated with increased IL-17 and TNFα levels in patients with chronic heart failure.

BACKGROUND: Recent studies revealed a strong association between vitamin D (VD) status and chronic heart failure (CHF). It is now commonly considered that proinflammatory immune response underlies CHF development. OBJECTIVE: Since VD expresses anti-inflammatory properties, we investigated its impact on cytokines implicated in CHF, such as TNFα and IL-17, in patients suffering from CHF. METHODS: Blood was obtained from forty patients with CHF secondary to hypertension and/or coronary heart disease. VD status, IL-17 and TNFα levels were assessed using 25-hydroxy VD3 EIA and cytokine ELISAs. Clinical assessment and echocardiography was also performed. RESULTS: Elderly patients with CHF in Nis (Southeast Europe, latitude 43ºN) exhibited 25-hydroxy VD3 levels below normal. Our data identified that patients with CHF secondary to hypertension have significantly lower 25-hydroxy VD3, increased TNFα and IL-17A levels in comparison to donors with CHF secondary to coronary disease. CONCLUSION: This study reveals that even in regions with a lot of sunny days VD deficiency represents a concerning issue. Data suggest that impaired VD status contributes to high IL-17 and TNFα levels and thereby may support CHF development.

Determinants of atherosclerosis in children and adolescents with diabetes type 1.

INTRODUCTION: To evaluate the degree of atherosclerosis in children and adolescents with type 1 diabetes and its correlation with risk factors, traditional and other, such as anti-oxidative capacity of circulating blood and level of lipid peroxidation. MATERIAL AND METHODS: Forty children and adolescents with type 1 diabetes with mean age 13.7 years were compared with 20 age- and sex-matched healthy control subjects. Association of carotid artery intima-media thickness (cIMT) with different risk factors measured in children with type 1 diabetes was evaluated. RESULTS: Mean carotid IMT was higher in subjects with diabetes (p 〈 0.01) and was strongly associated with total cholesterol with an odds ratio of 4.08 (p = 0.016), LDL-cholesterol with an odds ratio of 2.78 (p = 0.037), length of disease with an odds ratio of 1.87 (p = 0.007) and positive family history (first- and second-degree relatives) of diabetes and early CVD (heart attack and/or stroke before the age of 60 years) with an odds ratio of 6.8 (p = 0.007). CONCLUSIONS: We found significantly increased cIMT in the diabetic patients compared to the healthy control subjects. Risk factors for the development of atherosclerosis included higher total and LDL-cholesterol, higher systolic blood pressure, positive family history of diabetes and early CVD and longer diabetes duration. In spite of the documented increased oxidative stress, we failed to establish a correlation between the oxidative stress parameters and cIMT values.

Cardiac autonomic dysfunction in patients with systemic lupus, rheumatoid arthritis and sudden death risk.

INTRODUCTION: The manifestations of autonomic nervous system (ANS) dysfunction in autoimmune diseases have been the subject of many studies. However, the published results pertaining to such research are controversial. Sudden cardiac death due to fatal arrhythmias is frequent in patients with systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). OBJECTIVE: To analyse risk predictors of sudden cardiac death related to the degree of autonomic dysfunction. METHODS: We performed cardiovascular ANS assessment in 90 patients in this case-controlled study, including 52 (6 male, 46 female) patients with SLE, 38 (6 male, 32 female) with RA and 41 (23 male, 17 female) healthy subjects. The methodology included a comprehensive ECG analysis (with Schiller software AT-10) of QTc interval, late potentials, short-term heart rate variability (HRV) and nonlinear HRV (Poincare plot) analysis; 24-hour Holter ECG monitoring with ECG QTc interval analysis, HRV analysis; 24-hour blood pressure monitoring with systolic and diastolic blood pressure variability; cardiovascular autonomic reflex tests (according to Ewing). Vagal dysfunction was established by performing 3 tests: Valsalva maneuver, deep breathing test and heart rate response to standing test. Dysfunction of the sympathetic nervous system was examined by applying 2 tests: blood pressure response to standing and handgrip test. RESULTS: In all cardiovascular reflex tests, the frequencies of abnormal results were significantly higher among the patients than among the healthy subjects. Severe autonomic dysfunction was more common in RA. QTc interval was more prolonged in patients with SLE. Both diseases were associated with depressed heart rate variability compared to controls, the reduction being greater in RA patients. In the patients with SLE, autonomic dysfunction is predominantly with higher sympathetic activity while in RA vagal predominance is evident. CONCLUSION: SLE and RA are associated with severe autonomic dysfunction and the presence of significant risk predictors related to the onset of sudden cardiac death.

The significance of amlodipine on autonomic nervous system adjustment (ANSA method): a new approach in the treatment of hypertension.

INTRODUCTION: Cardiovascular autonomic modulation is altered in patients with essential hypertension. OBJECTIVE: To evaluate acute and long-term effects of amlodipine on cardiovascular autonomic function and haemodynamic status in patients with mild essential hypertension. METHODS: Ninety patients (43 male, mean age 52.12 +/- 10.7) years with mild hypertension were tested before, 30 minutes after the first 5 mg oral dose of amlodipine and three weeks after monotherapy with amlodipine. A comprehensive study protocol was done including finger blood pressure variability (BPV) and heart rate variability (HRV) beat-to-beat analysis with impedance cardiography, ECG with software short-term HRV and nonlinear analysis, 24-hour Holter ECG monitoring with QT and HRV analysis, 24-hour blood pressure (BP) monitoring with systolic and diastolic BPV analysis, cardiovascular autonomic reflex tests, cold pressure test, mental stress test. The patients were also divided into sympathetic and parasympathetic groups, depending on predominance in short time spectral analysis of sympathovagal balance according to low frequency and high frequency values. RESULTS: We confirmed a significant systolic and diastolic BP reduction, and a reduction of pulse pressure during day, night and early morning hours. The reduction of supraventricular and ventricular ectopic beats during the night was also achieved with therapy, but without statistical significance. The increment of sympathetic activity in early phase of amlodipine therapy was without statistical significance and persistence of sympathetic predominance after a few weeks of therapy detected based on the results of short-term spectral HRV analysis. All time domain parameters of long-term HRV analysis were decreased and low frequency amongst spectral parameters. Amlodipne reduced baroreflex sensitivity after three weeks of therapy, but increased it immediately after the administration of the first dose. CONCLUSION: The results of the study showed that amlodipine affected autonomic modulation as a shift to sympathetic hyperactivity, but without statistical significance. In the selected group of patients with vagal predominance in sympathovagal balance, amlodipine increased sympathetic and decreases vagal activity. Therefore we conclude that amlodipine mostly exerts impact on autonomic function modulation in patients with vagal predominance in resting state.