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1.
Enferm. clín. (Ed. impr.) ; 30(2): 99-107, mar.-abr. 2020. tab
Artigo em Espanhol | IBECS-Express | ID: ibc-FGT-3072

RESUMO

Objetivo: Evaluar el grado de conocimientos de la hipertensión en pacientes hipertensos. Método: Estudio multicéntrico descriptivo transversal, realizado en centros de atención primaria y especializada de España. Participaron 980 pacientes hipertensos, mayores de 18 años, con tratamiento farmacológico. Variables principales: años de diagnóstico, factores de riesgo, presión arterial, perímetro abdominal, índice de masa corporal, adherencia a la medicación (test de Morisky-Green), y los ítems de un cuestionario validado sobre conocimientos. Resultados: El 50% mujeres, edad media 65 años. El 46% con más de 10 años del diagnóstico de hipertensión. En relación a la adherencia a la medicación, el 56,6% no lo era, siendo el olvido la primera causa. Al analizar los conocimientos sobre la hipertensión el 41,7% refería que nadie les había informado, el 35,8% no consideraba que la hipertensión fuera para toda la vida y solo el 42,3% conocía los objetivos de presión arterial. El mayor desconocimiento sobre los riesgos que provoca la hipertensión en el organismo fue el relacionado con el riñón, donde solo el 48,6% afirmaba conocer ese dato. En relación a la medicación, solo el 41,4% conocía que era para toda la vida. También se observó que hay diferencias estadísticamente significativas entre nivel de conocimientos y nivel de estudios (p < 0,001). Conclusión: Los conocimientos básicos sobre la hipertensión siguen siendo bajos en estos pacientes. Estos resultados permiten orientar futuras intervenciones. orientando la educación terapéutica al paciente y mejorar su participación en la enfermedad para controlar mejor su hipertensión


Aims: To evaluate the grade of knowledge of hypertension in hypertensive patients. Method: Cross-sectional descriptive multicentre study. Primary and specialized care centres in Spain. Participants: 980 hypertensive patients, older than 18 years, with pharmacological treatment. Main variables: Years of diagnosis, risk factors, blood pressure, abdominal circumference, body mass index, adherence to medication (Morisky-Green test) and the items of a validated questionnaire on knowledge. Results: 50% were women, mean age 65 years. Seventy-eight percent lived with family, 46% over 10 years old diagnosed with hypertension. In relation to adherence to medication, 56.6% were not compliant, forgetting being the first cause. Knowledge about hypertension 41.7% said that no one had explained it, 35.8% did not consider hypertension a lifelong process, and only 42.3% knew the objectives of blood pressure. The area of major lack of knowledge of the risk of hypertension was the problems caused by hypertension in the kidney, only 48.6% answered affirmatively. In relation to medication, only 41.4% knew it is for life. Statistically significant differences were also observed between the level of knowledge and the level of studies (p < .001). Conclusions: Basic knowledge about hypertension remains low in these patients. These results enable future interventions to be oriented by promoting therapeutic education to the patient and improving their involvement in the disease in order to better control their hypertension

2.
Rev Esp Cardiol (Engl Ed) ; 73(4): 328, 2020 Apr.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-32220391
3.
J Cardiovasc Electrophysiol ; 31(1): 103-111, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31724763

RESUMO

INTRODUCTION: Between 7% and 15% of patients with an indication for an implantable cardioverter-defibrillator (ICD) are not eligible for implantation of a subcutaneous implantable cardioverter-defibrillator (S-ICD) on the basis of the result of the conventional left parasternal electrocardiographic screening (LPES). Our objective was to determine the impact of systematically performing right parasternal electrocardiographic screening (RPES) in addition to conventional LPES, in terms of increasing both the total percentage of potentially eligible patients for S-ICD implantation and the number of suitable vectors per patient. METHODS AND RESULTS: Consecutive patients from the outpatient device clinic who already had an implanted ICD, and no requirement for pacing were enrolled. Conventional left parasternal electrode position and right parasternal electrode positions were used. The automatic screening tool was used to analyze the recordings. Screenings were performed in the supine and standing positions. Overall, 209 patients were included. The mean age was 63.4 ± 13 years, 59.8% had ischemic heart disease, mean QRS duration was 100 ± 31 ms, and 69.9% had a primary prevention ICD indication. Based on conventional isolated LPES, 12.9% of patients were not eligible for S-ICD compared with 11.5% based on RPES alone (P = .664). Considering LPES and RPES together, only 7.2% of patients were not eligible for S-ICD (P < .001). Moreover, the number of patients with more than one suitable vector increased from 66.5% with isolated LPES to 82.3% (23.7% absolute increase [P < .001]). CONCLUSION: Adding an automated RPES to the conventional automated LPES increased patient eligibility for the S-ICD significantly. Moreover, combined screening increased the number of suitable vectors per eligible patient.

5.
Fluids Barriers CNS ; 16(1): 34, 2019 Nov 14.
Artigo em Inglês | MEDLINE | ID: mdl-31727079

RESUMO

BACKGROUND: Cerebrospinal fluid (CSF) metabolomic investigations are a powerful tool for studying neurometabolic diseases. We aimed to assess the effect of CSF contamination with blood on the concentrations of selected biomarkers. METHODS: CSF samples were spiked in duplicate with increasing volumes of whole blood under two conditions: (A) pooled CSF spiked with fresh whole blood and frozen to cause red blood cell (RBC) lysis; (B) pooled CSF spiked with fresh blood and centrifuged (the supernatant with no RBCs was frozen until the moment of analysis). CSF concentrations of amino acids, biogenic amines, pterins, and vitamins were analysed by HPLC coupled with tandem mass spectrometry, electrochemical and fluorescence detection. RESULTS: Aspartate, glutamate, taurine, ornithine, glycine, citrulline, pyridoxal 5´-phosphate, 5-methyltetrahydrofolate, and thiamine showed higher values when RBCs were lysed when compared with those of CSF with no RBC, while arginine, 5-hydroxyindoleacetic and homovanillic acids showed lower values. When RBCs were removed from CSF, only some amino acids, thiamine and pyridoxal 5´-phosphate showed moderately higher values when compared with the non-spiked CSF sample. CONCLUSIONS: CSF-targeted metabolomic analysis is feasible even when substantial RBC contamination of CSF has occurred since CSF centrifugation to remove RBC prior to freezing eliminated most of the interferences observed.

6.
Eur J Paediatr Neurol ; 23(5): 685-691, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31522993

RESUMO

Phenylketonuric (PKU) patients are a population at risk for sleep disorders due to deficits in neurotransmitter synthesis. We aimed to study the prevalence of sleep disorders in early-treated PKU children and adolescents and assessed correlations with dopamine and serotonin status. We compared 32 PKU patients (16 females, 16 males; mean age 12 years), with a healthy control group of 32 subjects (16 females, 16 males; mean age 11.9 years). 19 PKU patients were under dietary treatment and 13 on tetrahydrobiopterin therapy. Concurrent phenylalanine (Phe), index of dietary control and variability in Phe in the last year, tyrosine, tryptophan, prolactin, and ferritin in plasma, platelet serotonin concentration, and melatonin, homovanillic and 5-hydroxyindoleacetic acid excretion in urine were analyzed. Sleep was assessed using Bruni's Sleep Disturbance Scale for Children. Sleep disorders were similar in both groups, 15.6% in control group and 12.5% in PKU group. In PKU patients, no correlations were found with peripheral biomarkers of neurotransmitter synthesis nor different Phe parameters, 43.3% had low melatonin excretion and 43.8% low platelet serotonin concentrations. Despite melatonin and serotonin deficits in early-treated PKU patients, the prevalence of sleep disorders is similar to that of the general population.


Assuntos
Dopamina/sangue , Fenilcetonúrias/complicações , Serotonina/sangue , Transtornos do Sono-Vigília/epidemiologia , Transtornos do Sono-Vigília/etiologia , Adolescente , Biomarcadores/sangue , Criança , Feminino , Humanos , Masculino , Melatonina/sangue , Fenilcetonúrias/sangue , Fenilcetonúrias/terapia , Prevalência , Transtornos do Sono-Vigília/sangue , Adulto Jovem
8.
Sci Rep ; 9(1): 9128, 2019 Jun 24.
Artigo em Inglês | MEDLINE | ID: mdl-31235756

RESUMO

Patients with inborn errors of amino acid metabolism frequently show neuropsychiatric symptoms despite accurate metabolic control. This study aimed to gain insight into the underlying mechanisms of neural dysfunction. Here we analyzed the expression of brain-derived neurotrophic factor (BDNF) and 10 genes required for correct brain functioning in plasma and blood of patients with Urea Cycle Disorders (UCD), Maple Syrup Urine Disease (MSUD) and controls. Receiver-operating characteristic (ROC) analysis was used to evaluate sensitivity and specificity of potential biomarkers. CACNA2D2 (α2δ2 subunit of voltage-gated calcium channels) and MECP2 (methyl-CpG binding protein 2) mRNA and protein showed an excellent neural function biomarker signature (AUC ≥ 0,925) for recognition of MSUD. THBS3 (thrombospondin 3) mRNA and AABA gave a very good biomarker signature (AUC 0,911) for executive-attention deficits. THBS3, LIN28A mRNA, and alanine showed a perfect biomarker signature (AUC 1) for behavioral and mood disorders. Finally, a panel of BDNF protein and at least two large neural AAs showed a perfect biomarker signature (AUC 1) for recognition of psychomotor delay, pointing to excessive protein restriction as central causative of psychomotor delay. To conclude, our study has identified promising biomarker panels for neural function evaluation, providing a base for future studies with larger samples.

9.
Enferm Clin ; 2019 Apr 03.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-30954394

RESUMO

AIMS: To evaluate the grade of knowledge of hypertension in hypertensive patients. METHOD: Cross-sectional descriptive multicentre study. Primary and specialized care centres in Spain. PARTICIPANTS: 980 hypertensive patients, older than 18 years, with pharmacological treatment. MAIN VARIABLES: Years of diagnosis, risk factors, blood pressure, abdominal circumference, body mass index, adherence to medication (Morisky-Green test) and the items of a validated questionnaire on knowledge. RESULTS: 50% were women, mean age 65 years. Seventy-eight percent lived with family, 46% over 10 years old diagnosed with hypertension. In relation to adherence to medication, 56.6% were not compliant, forgetting being the first cause. Knowledge about hypertension 41.7% said that no one had explained it, 35.8% did not consider hypertension a lifelong process, and only 42.3% knew the objectives of blood pressure. The area of major lack of knowledge of the risk of hypertension was the problems caused by hypertension in the kidney, only 48.6% answered affirmatively. In relation to medication, only 41.4% knew it is for life. Statistically significant differences were also observed between the level of knowledge and the level of studies (p<.001). CONCLUSIONS: Basic knowledge about hypertension remains low in these patients. These results enable future interventions to be oriented by promoting therapeutic education to the patient and improving their involvement in the disease in order to better control their hypertension.

10.
Otol Neurotol ; 40(4): e373-e380, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30870358

RESUMO

OBJECTIVE: To evaluate the hearing preservation (HP) in cochlear implant (CI) recipients who did not fulfill the criteria for electric acoustic stimulation (EAS). STUDY DESIGN: Prospective study SETTING:: Tertiary academic hospital. PATIENTS: Adults undergoing CI with deep insertion electrode arrays who had measurable residual hearing (RH) before surgery. INTERVENTION: Demographic data, surgical technique, pure-tone average, and radiological findings were evaluated. MAIN OUTCOME MEASURE: Pre- and postoperative pure-tone audiometry. A preservation study was therefore performed for the whole range of frequencies (THP), and for low frequencies (LFHP). RESULTS: From the total 25 patients who underwent the surgical procedure, 6 of them (26.08%) did not retain any RH and 17 of them (73.91%) had some degree of HP. A clear association was observed between the use of the atraumatic technique (AT) and the percentage of some degree of HP. In patients who underwent the AT, LFHP was 72.79% and THP was 70.40%. In patients who did not undergo the technique, LFHP was 31.48% (p: 0.003) and THP was 23.50% (p: 0.002). LFHP was complete or partial (more than 25% of initial RH) in 92.3% of patients who underwent AT and in 50% of those who did not. Radiological findings showed that complete insertion is not associated with poorer HP. CONCLUSION: If the appropriate technique is used, preservation of RH is feasible after cochlear implant surgery with deep insertion electrode arrays.

13.
Pacing Clin Electrophysiol ; 42(6): 625-633, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30888071

RESUMO

BACKGROUND: The differential diagnosis of regular wide QRS complex tachycardia (RWQRST) remains the subject of numerous publications, all of which aim at diagnosis during the acute phase. Although an accurate diagnosis is necessary to make long-term decisions, it often leads to invasive testing. METHODS: Criteria with high positive predictive values (PPVs) for diagnosis can be obtained by analyzing the electrocardiogram (ECG) data during RWQRST and comparing them with these data at baseline. By assigning points to these criteria, a scoring algorithm to accurately diagnose numerous patients can be obtained. A total of 352 consecutive patients with RWQRST were included. Two electrophysiologists blind to patient condition analyzed the 16 criteria considered as having high PPVs. RESULTS: A total of 149 (42.3%) cases were supraventricular tachycardia (SVT), and 203 (57.7%) cases were ventricular tachycardia (VT). A higher percentage of patients with VT had structural heart disease (86.7% vs 16.1%). Seven of the 16 criteria analyzed had PPVs > 95%, and each criterion was assigned a score. A final score of -1 was indicative of SVT (PPV 98%); a score of 1 was indicative of VT (PPV 98%); and a score of ≥2 was indicative of VT (PPV 100%). A score of ≠0 was obtained for 51.7% of all cases of tachycardia, making it possible to reach a highly accurate diagnosis in approximately half of all cases. No cases of VT scored -1, and no cases of SVT scored ≥2. CONCLUSIONS: The current scoring system stands out for its high PPV (98%) and specificity (98%), enabling an accurate diagnosis for more than half of the patients.

14.
J Cardiovasc Electrophysiol ; 30(7): 1168-1171, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30848000

RESUMO

A 14-year-old girl with a history of recurrent palpitations and documented wide QRS complex tachycardia was referred for electrophysiologic study and catheter ablation.

15.
J Cardiovasc Med (Hagerstown) ; 20(3): 107-113, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30664072

RESUMO

AIMS: The purpose of this study was to systematically quantify the level of acute parasympathetic denervation in a stepwise fashion by means of extracardiac vagal stimulation (ECVS) by positioning a quadripolar catheter in the internal jugular vein, in a cohort of patients undergoing second-generation cryoballoon ablation for paroxysmal atrial fibrillation. METHODS: Fifty patients with symptomatic paroxysmal atrial fibrillation, having undergone extracardiac vagal stimulation before and after ablation by means of second-generation cryoballoon second-generation cryoballoon ablation, were included. RESULTS: The extracardiac vagal stimulation performed preablation provoked cardioinhibitory responses in all patients with mean pause duration of 10130.6 ± 3280.0 ms. At the end of the procedure, the VRs were significantly diminished with mean pause of 1687.5 ms ± 2183.7 ms (P = 0.00 compared with the pause before the procedure). CONCLUSION: The ECVS proved to be a reproducible, feasible and reliable method to quantify the degree of parasympathetic denervation during CB-A. In all patients, significant cardiac parasympathetic denervation could be observed at the end of the procedure. Responses to ECVS were more specific to quantify the vagal denervation than the increase in the heart rate. However larger studies are needed to confirm this observation.


Assuntos
Fibrilação Atrial/cirurgia , Criocirurgia , Monitorização Neurofisiológica Intraoperatória/métodos , Veias Pulmonares/cirurgia , Vagotomia , Estimulação do Nervo Vago , Idoso , Fibrilação Atrial/diagnóstico , Fibrilação Atrial/fisiopatologia , Cateteres Cardíacos , Criocirurgia/efeitos adversos , Criocirurgia/instrumentação , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Veias Pulmonares/inervação , Veias Pulmonares/fisiopatologia , Resultado do Tratamento , Vagotomia/efeitos adversos , Vagotomia/instrumentação
16.
Rev. esp. cardiol. (Ed. impr.) ; 71(11): 895-901, nov. 2018. ilus, tab, graf
Artigo em Espanhol | IBECS | ID: ibc-178943

RESUMO

Introducción y objetivos: El desfibrilador subcutáneo (S-ICD) surge como alternativa al transvenoso. La incidencia de complicaciones es similar, y los choques inapropiados (CI) son más frecuentes que lo observado con programaciones contemporáneas en los transvenosos. Tras aprobarse en 2009 en Europa, se han implementado diversas mejoras. Se expone el resultado en un centro con el implante de S-ICD, cuya experiencia se inició tardíamente, a finales de 2013. Métodos: Estudio prospectivo observacional con inclusión de pacientes consecutivos con indicación de desfibrilador y sin indicación de estimulación permanente o resincronización cardiaca, a los que se implantó un S-ICD. Se analizaron datos del implante y seguimiento a largo plazo. Resultados: Se implantó un S-ICD a 50 pacientes que habían superado el cribado electrocardiográfico pertinente. La media de edad era 46,9 ± 15 (15-78) años, y el 72% eran varones. El 38% presentaba una fracción de eyección del ventrículo izquierdo ≤ 35%, y la cardiopatía isquémica fue la más frecuente (34%), seguida de la miocardiopatía hipertrófica (18%). Se usó la técnica intermuscular, con 3 incisiones en el 10% y 2 en el 90%. Se indujo fibrilación ventricular a 49 pacientes, con eficacia del 100% en su conversión. Tras un seguimiento medio de 18,1 (2,3-44,8) meses, no se produjeron complicaciones tardías que requirieran revisión quirúrgica ni CI (0%), y 1 paciente (2%) recibió choques apropiados. Conclusiones: Las mejoras tecnológicas, de implante y programación, junto con una selección adecuada de pacientes, han permitido obtener unos excelentes resultados agudos y a largo plazo, especialmente por la ausencia de CI y complicaciones que requirieran revisión quirúrgica


Introduction and objectives: The subcutaneous implantable cardioverter-defibrillator (S-ICD) has emerged as an alternative to the transvenous defibrillator. The incidence of complications is similar, with inappropriate shocks (IS) being more frequent than those occurring with contemporary programming of transvenous defibrillators. Several improvements have been implemented after the S-ICD was approved for use in Europe in 2009. This study reports the results of S-ICD use in a single center, whose experience began late, at the end of 2013. Methods: Prospective observational study including consecutive patients with defibrillator indication and no indication for either permanent pacing or cardiac resynchronization who underwent S-ICD implantation. Implant data and long-term follow-up were analyzed. Results: An S-ICD was implanted in 50 patients who were deemed suitable after electrocardiographic screening. The mean age was 46.9 ± 15 (range, 15-78) years and 72% were male. Thirty eight percent had left ventricular ejection fraction ≤ 35%. The most frequent heart disease was ischemic heart disease (34%), followed by hypertrophic cardiomyopathy (18%). The intermuscular technique was used, with 3 incisions in 10% and 2 incisions in the remaining 90%. Ventricular fibrillation was induced in 49 patients, with 100% effectiveness in their conversion. After a mean follow-up of 18.1 (range, 2.3-44.8) months, there were no late complications requiring surgical revision, the rate of IS was 0%, and 1 patient (2%) experienced appropriate shocks. Conclusions: Improvements in technology, implant technique and device programming, along with appropriate patient selection, have led to outstanding acute and long-term results, especially regarding the absence of both IS and complications requiring surgical revision


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Desfibriladores Implantáveis/estatística & dados numéricos , Cardioversão Elétrica/métodos , Morte Súbita Cardíaca/epidemiologia , Arritmias Cardíacas/epidemiologia , Tempo/estatística & dados numéricos , Resultado do Tratamento , Morte Súbita Cardíaca/prevenção & controle , Estudos Prospectivos
17.
Orphanet J Rare Dis ; 13(1): 188, 2018 10 26.
Artigo em Inglês | MEDLINE | ID: mdl-30367646

RESUMO

BACKGROUND: Despite dietary intervention, individuals with early treated phenylketonuria (ETPKU) could present neurocognitive deficits and white matter (WM) abnormalities. The aim of the present study was to evaluate the microstructural integrity of WM pathways across the whole brain in a cohort of paediatric ETPKU patients compared with healthy controls (HCs), by collecting DTI-MRI (diffusion tensor magnetic resonance imaging) data and diffusion values (mean diffusivity (MD), radial diffusivity (RD) and fractional anisotropy (FA)). METHODS: DTI-MRI data and diffusion values (MD, RD, FA) from WM tracts across the whole brain were analized using Tract Based Spatial Statistics (TBSS), in 15 paediatrics TPKU patients (median age: 12 years) and compared with 11 HCs. Areas showing abnormal values in the patient group were correlated (Pearson) with age, lifetime Phe values, last year median and mean Phe, concurrent Phe values in plasma, urine neurotransmitters status biomarkers, and with a processing speed task. RESULTS: ETPKU showed bilaterally decreased MD values compared with HCs in the body and splenium of the corpus callosum, superior longitudinal fasciculus, corona radiata and in the posterior limb of the internal capsule. RD values followed a similar pattern, although decreased RD values in PKU patients were also found in the anterior limb of the internal capsule and in the cerebral peduncle. Decreased MD and RD values within the aforementioned regions had significant negative correlations with age, last year median and mean Phe and concurrent Phe values. No correlations were found with monoamines in urine or processing speed task. CONCLUSIONS: ETPKU patients showed MD and RD values significantly decreased across the whole brain when compared with HCs, and this damage was associated with high Phe values and the age of patients. Despite this microstructural damage, no affectation in processing speed was observed in patients with good metabolic control. DTI-MRI sequences could be used as a technique to quantify WM damage that is difficult to be detect in T1 or T2-weighted images, but also to quantify damage of WM through the follow up of patients with poor metabolic control in prospective studies.


Assuntos
Fenilcetonúrias/dietoterapia , Fenilcetonúrias/patologia , Substância Branca/patologia , Adolescente , Estudos de Casos e Controles , Criança , Estudos de Coortes , Feminino , Humanos , Masculino , Fenilcetonúrias/diagnóstico por imagem , Substância Branca/diagnóstico por imagem
18.
Pacing Clin Electrophysiol ; 41(10): 1362-1364, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30091468

RESUMO

A 16-year-old male presented with an orthodromic atrioventricular reentrant tachycardia over a concealed parahisian accessory pathway (AP). Cryoablation of the AP resulted in transient manifestation of a fully preexcited sinus rhythm of parahisian AP morphology. Potential causes for the paradoxical preexcitation include inadvertent atrioventricular nodal block, sourse-sink mismatch, as well as the activation of a dormant AP capable of anterograde conduction.


Assuntos
Feixe Acessório Atrioventricular/cirurgia , Fascículo Atrioventricular/cirurgia , Criocirurgia/métodos , Síndromes de Pré-Excitação/etiologia , Taquicardia por Reentrada no Nó Atrioventricular/cirurgia , Feixe Acessório Atrioventricular/fisiopatologia , Adolescente , Fascículo Atrioventricular/fisiopatologia , Eletrocardiografia , Humanos , Masculino , Síndromes de Pré-Excitação/fisiopatologia , Taquicardia por Reentrada no Nó Atrioventricular/fisiopatologia
19.
Am J Hypertens ; 31(12): 1293-1299, 2018 11 13.
Artigo em Inglês | MEDLINE | ID: mdl-30084975

RESUMO

BACKGROUND: Central blood pressure (BP) is considered as a better estimator of hypertension-associated risks than peripheral BP. We aimed to evaluate the association of 24-hour central BP, in comparison with 24-hour peripheral BP, with the presence of left ventricular hypertrophy (LVH), or diastolic dysfunction (DD). METHODS: The cross-sectional study consisted of 208 hypertensive patients, aged 57 ± 12 years, of which 34% were women. Office and 24-hour central and peripheral BP were measured by the oscillometric Mobil-O-Graph device. We performed echocardiography-Doppler measurements to calculate LVH and DD, defined as left atrium volume ≥34 ml/m2 or septal e' velocity <8 cm/s or lateral e' velocity <10 cm/s. RESULTS: Seventy-seven patients (37%) had LVH, and 110 patients (58%) had DD. Systolic and pulse BP estimates (office, 24-hour, daytime, and nighttime) were associated with the presence of LVH or DD, after adjustment for age, gender, and antihypertensive treatment, with higher odds ratios for ambulatory-derived values. The comparison between central and peripheral BP estimates did not reveal a statistically significant superiority of the former neither in multiple regression models with simultaneous adjustments nor in the comparison of areas under receiver-operating curves. Correlation coefficients of BP estimates with left ventricular mass, although numerically higher for central BP, did not significantly differ between central and peripheral BP. CONCLUSIONS: We have not found a significant better association of 24-hour central over peripheral BP, with hypertensive cardiac alterations, although due to the sample size, these results require further confirmation in order to assess the possible role of routine 24-hour central BP measurement.


Assuntos
Pressão Sanguínea , Hipertensão/complicações , Hipertrofia Ventricular Esquerda/etiologia , Disfunção Ventricular Esquerda/etiologia , Função Ventricular Esquerda , Adulto , Idoso , Monitorização Ambulatorial da Pressão Arterial/métodos , Estudos Transversais , Diástole , Ecocardiografia Doppler de Pulso , Feminino , Humanos , Hipertensão/diagnóstico , Hipertensão/fisiopatologia , Hipertrofia Ventricular Esquerda/diagnóstico por imagem , Hipertrofia Ventricular Esquerda/fisiopatologia , Masculino , Pessoa de Meia-Idade , Oscilometria , Fatores de Risco , Espanha , Fatores de Tempo , Disfunção Ventricular Esquerda/diagnóstico por imagem , Disfunção Ventricular Esquerda/fisiopatologia
20.
J Inherit Metab Dis ; 41(6): 1147-1158, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-29974349

RESUMO

Mitochondrial diseases are a group of genetic disorders leading to the dysfunction of mitochondrial energy metabolism pathways. We aimed to assess the clinical phenotype and the biochemical cerebrospinal fluid (CSF) biogenic amine profiles of patients with different diagnoses of genetic mitochondrial diseases. We recruited 29 patients with genetically confirmed mitochondrial diseases harboring mutations in either nuclear or mitochondrial DNA (mtDNA) genes. Signs and symptoms of impaired neurotransmission and neuroradiological data were recorded. CSF monoamines, pterins, and 5-methyltetrahydrofolate (5MTHF) concentrations were analyzed using high-performance liquid chromatography with electrochemical and fluorescence detection procedures. The mtDNA mutations were studied by Sanger sequencing, Southern blot, and real-time PCR, and nuclear DNA was assessed either by Sanger or next-generation sequencing. Five out of 29 cases showed predominant dopaminergic signs not attributable to basal ganglia involvement, harboring mutations in different nuclear genes. A chi-square test showed a statistically significant association between high homovanillic acid (HVA) values and low CSF 5-MTHF values (chi-square = 10.916; p = 0.001). Seven out of the eight patients with high CSF HVA values showed cerebral folate deficiency. Five of them harbored mtDNA deletions associated with Kearns-Sayre syndrome (KSS), one had a mitochondrial point mutation at the mtDNA ATPase6 gene, and one had a POLG mutation. In conclusion, dopamine deficiency clinical signs were present in some patients with mitochondrial diseases with different genetic backgrounds. High CSF HVA values, together with a severe cerebral folate deficiency, were observed in KSS patients and in other mtDNA mutation syndromes.


Assuntos
Aminas Biogênicas/líquido cefalorraquidiano , Ácido Homovanílico/líquido cefalorraquidiano , Doenças Mitocondriais/líquido cefalorraquidiano , Doenças Mitocondriais/diagnóstico , Pterinas/líquido cefalorraquidiano , Tetra-Hidrofolatos/líquido cefalorraquidiano , DNA Mitocondrial/genética , Humanos , Doenças Mitocondriais/genética , Mutação Puntual , Deleção de Sequência , Tetra-Hidrofolatos/deficiência
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