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1.
Curr Cardiol Rep ; 26(7): 735-746, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38913234

RESUMEN

PURPOSE OF REVIEW: Patent foramen ovale (PFO) has been previously linked to left circulation thromboembolism and stroke. This review article aims to discuss the latest evidence, updated societal guidelines, diagnostic algorithms and novel therapeutic devices for PFO closure. RECENT FINDINGS: PFO closure for cryptogenic stroke and systemic embolization is supported by a large body of evidence and has a strong societal recommendation. Limited data are available for platypnea-orthodeoxia syndrome, although closure appears to be beneficial. Current data do not support routine closure for migraines and decompression Illness. Development of heart-brain teams can improve identification of patients most likely to benefit from closure, utilizing a combination of imaging test and risk score algorithms. Multiple novel devices aiming at reducing complications and improving the long-term impact of current available devices are being evaluated. PFO closure has significantly progressed over the last years, with new data supporting its superiority in reducing risk of recurrent embolic stroke in patients with PFO-related stroke. Additional clinical data are required to provide further refinements on patient selection and guidance on treatment of specific subgroups.


Asunto(s)
Foramen Oval Permeable , Dispositivo Oclusor Septal , Foramen Oval Permeable/complicaciones , Foramen Oval Permeable/cirugía , Foramen Oval Permeable/terapia , Humanos , Cateterismo Cardíaco/métodos , Accidente Cerebrovascular/prevención & control , Accidente Cerebrovascular/etiología , Resultado del Tratamiento , Guías de Práctica Clínica como Asunto
2.
J Med Virol ; 94(2): 795-798, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34676889

RESUMEN

In the last 10 years, an increased number of patients presenting with acute encephalitis is being observed, a finding that is attributed to autoimmune mechanisms. Despite the fact that autoantibodies usually target the neuronal cell surface or synaptic proteins in the central nervous system (CNS), in many cases these remain undetectable, constituting a future diagnostic and therapeutic challenge. Human herpesvirus-7 (HHV-7) is proven to be a neurotropic virus, causing various neurological complications mostly in the adult population. We present the case of a 10-year-old girl, with confirmed active HHV-7 infection of the CNS, who developed acute seronegative autoimmune encephalitis. To our best knowledge, there is no literature concerning pediatric cases of autoimmune encephalitis following HHV-7 infection.


Asunto(s)
Anticuerpos Antivirales/sangre , Enfermedades Autoinmunes del Sistema Nervioso/líquido cefalorraquídeo , Encéfalo/patología , Encefalitis/líquido cefalorraquídeo , Herpesvirus Humano 7 , Infecciones por Roseolovirus/líquido cefalorraquídeo , Autoanticuerpos/líquido cefalorraquídeo , Niño , Femenino , Humanos , Imagen por Resonancia Magnética , Recurrencia
3.
Catheter Cardiovasc Interv ; 89(3): 445-451, 2017 Feb 15.
Artículo en Inglés | MEDLINE | ID: mdl-27218599

RESUMEN

OBJECTIVES: We sought to examine whether baseline diastolic dysfunction (DD) is associated with increased mortality in patients who develop aortic insufficiency (AI) after transcatheter aortic valve replacement (TAVR). BACKGROUND: Significant post-TAVR AI is associated with increased mortality, likely secondary to adverse hemodynamics secondary to volume overload and decreased LV compliance from chronic pressure overload. However, the effect of baseline DD on outcomes of patients with post-TAVR AI has not been studied. METHODS: A total of 195 patients undergoing TAVR were included in the study. Patients with moderate-to-severe mitral stenosis, prior mitral valve replacement or atrial fibrillation were excluded. DD was classified at baseline by a 2-step approach as recommended by the American Society of Echocardiography while AI was evaluated 30 days post-TAVR. Follow up data up to 2 years post-TAVR was used in survival analysis. RESULTS: Patients with severe baseline DD who developed ≥mild post-TAVR AI had increased mortality compared to all other patients (HR = 3.89, CI: 1.76-8.6, P = 0.001), which remained significant after adjusting for post-TAVR AI, pre-TAVR AI, baseline mitral regurgitation, ejection fraction, pulmonary artery pressure, creatinine clearance and history of stroke. CONCLUSIONS: Even mild post-TAVR AI may have a negative impact on outcomes of patients with underlying severe DD. © 2016 Wiley Periodicals, Inc.


Asunto(s)
Insuficiencia de la Válvula Aórtica/etiología , Estenosis de la Válvula Aórtica/terapia , Válvula Aórtica , Cateterismo Cardíaco/efectos adversos , Implantación de Prótesis de Válvulas Cardíacas/efectos adversos , Disfunción Ventricular Izquierda/complicaciones , Función Ventricular Izquierda , Anciano , Anciano de 80 o más Años , Válvula Aórtica/diagnóstico por imagen , Válvula Aórtica/fisiopatología , Insuficiencia de la Válvula Aórtica/diagnóstico por imagen , Insuficiencia de la Válvula Aórtica/mortalidad , Insuficiencia de la Válvula Aórtica/fisiopatología , Estenosis de la Válvula Aórtica/diagnóstico por imagen , Estenosis de la Válvula Aórtica/mortalidad , Estenosis de la Válvula Aórtica/fisiopatología , Cateterismo Cardíaco/instrumentación , Cateterismo Cardíaco/métodos , Cateterismo Cardíaco/mortalidad , Diástole , Femenino , Prótesis Valvulares Cardíacas , Implantación de Prótesis de Válvulas Cardíacas/instrumentación , Implantación de Prótesis de Válvulas Cardíacas/métodos , Implantación de Prótesis de Válvulas Cardíacas/mortalidad , Humanos , Estimación de Kaplan-Meier , Masculino , Modelos de Riesgos Proporcionales , Estudios Retrospectivos , Medición de Riesgo , Factores de Riesgo , Índice de Severidad de la Enfermedad , Factores de Tiempo , Resultado del Tratamiento , Disfunción Ventricular Izquierda/diagnóstico por imagen , Disfunción Ventricular Izquierda/mortalidad , Disfunción Ventricular Izquierda/fisiopatología
4.
Epilepsy Behav ; 71(Pt A): 94-103, 2017 06.
Artículo en Inglés | MEDLINE | ID: mdl-28564623

RESUMEN

OBJECTIVE: This qualitative study explored the challenges that Greek parents/caregivers of children with controlled epilepsy (CwE) face regarding the disorder. METHODS: Interviews were conducted based on open-ended questions guided by a review of the literature. A total of 91 parents/caregivers were recruited by neurologists at the neurology clinics of two Athens public hospitals. A hermeneutic phenomenological approach was used to explore parent/caregiver experiences. The data were grouped and analyzed through a textual interpretation. RESULTS: Two key challenges were identified for parents of CwE: the disclosure of epilepsy and the absence of adequate information about coping with epilepsy. Parents in Greece were hesitant to reveal their child's epilepsy to school staff and their wider social milieu. Also, although satisfied with the patient-centered approach they experienced with their hospital doctor, parents/caregivers found that they needed more education about the existing sources of psychosocial and emotional support to cope with their child's epilepsy personally and as a family. Finally, the parents/caregivers who let their child know about the epilepsy and discussed the implications with the child found that parent-child communication improved. CONCLUSION: This study provides valuable insight into the impact of epilepsy on parents of CwE, which might help hospital and school staff support families with greater understanding, sensitivity, and skill. The findings suggest that Greek authorities should staff hospitals and schools with experts and more systematically advertise sources of information about epilepsy and ways to cope with it.


Asunto(s)
Cuidadores/psicología , Cuidadores/normas , Epilepsia/psicología , Relaciones Padres-Hijo , Padres/psicología , Adaptación Psicológica/fisiología , Adolescente , Adulto , Anciano , Niño , Preescolar , Epilepsia/epidemiología , Epilepsia/terapia , Femenino , Grecia/epidemiología , Humanos , Masculino , Persona de Mediana Edad
5.
Epilepsy Behav ; 60: 218-224, 2016 07.
Artículo en Inglés | MEDLINE | ID: mdl-27240308

RESUMEN

AIM: The aim of this study was to explore the sources of information for the educators in Greek primary and secondary schools with regard to epilepsy, first aid to seizures, and pupils' health conditions. METHOD: A semistructured anonymous 52-item questionnaire was sent to 100 public primary and secondary Greek schools from all districts. Two thousand thirty-seven teachers were approached; 446 questionnaires returned. The data were analyzed with SPSS20. Also, 70 head teachers were phone-interviewed with an open-ended unstructured questionnaire. The derived data were analyzed using mixed methodology. RESULTS: Twenty-two percent of the addressed educational community responded to the questionnaire, mostly women (66.6%). More responses came from urban areas (71.5%). The main source for the teachers to obtain information about epilepsy was found to be personal experience (37.75%) and internet (34.93%). Only a small percentage was referred to courses (6.2%). Eighty point three percent of the educators knew what epilepsy is, and 88.1% had the right view about the nature of the illness. However, 92% of the educators replied that they have not had adequate first aid training. Although 80.3% of the teachers believed that the school personnel are aware of the pupils' medical history, 85.48% of the teachers considered that they are informed about the pupils' condition from the parents/carers, and only 5.53% believed that the information came from the family doctor. Ninety-five point seventy percent of the educators declared a wish for further information and training about epilepsy. CONCLUSION: Knowledge and attitudes of the educators towards epilepsy are improved compared with those reported in previous studies conducted in Greece. However, there are still areas of uncertainty which need improvement. The necessity for more information about epilepsy and pupils' medical history along with appropriate training about seizure incidents seems crucial for the Greek educational community. Educational campaigns about epilepsy could improve teachers' knowledge of epilepsy to develop a well-informed and tolerant community. Further research in the field is necessary to provide teachers with accurate information about the illness and the ways to cope with it.


Asunto(s)
Epilepsia/epidemiología , Epilepsia/psicología , Conocimientos, Actitudes y Práctica en Salud , Maestros/psicología , Instituciones Académicas/tendencias , Encuestas y Cuestionarios , Adulto , Concienciación , Niño , Epilepsia/diagnóstico , Femenino , Grecia/epidemiología , Educación en Salud/tendencias , Humanos , Masculino , Persona de Mediana Edad , Padres/psicología
6.
J Heart Valve Dis ; 25(3): 301-308, 2016 05.
Artículo en Inglés | MEDLINE | ID: mdl-27989040

RESUMEN

BACKGROUND: Paravalvular aortic regurgitation (PAR) remains a common complication following transcatheter aortic valve replacement (TAVR), and has been associated with increased mortality. Adverse left ventricular (LV) remodelling has been reported in patients with post-TAVR PAR, but the association between adverse LV remodeling and increased mortality remains unclear. The aim of the present study was to examine the association between PAR, LV remodeling and mortality following TAVR in a non-PARTNER (Placement of Aortic Transcatheter Valves) trial population. METHODS: A total of 195 patients that underwent TAVR was included in the study. The LV ejection fraction (LVEF), LV mass index (LVMI), LV internal dimension at systole (LVIDs) and diastole (LVIDd) were compared between patients with different degrees of PAR at baseline, and at one month and one year after TAVR. Survival analysis was performed for different degrees of PAR and LV remodeling. RESULTS: PAR ≥moderate was associated with increased mortality (HR 4.58 [1.80-11.63], p = 0.001), but PAR >mild was not. The LVIDd and LVIDs were persistently increased at one year after TAVR in patients with PAR >mild compared to those with PAR ≤mild (5.9 ± 0.8 cm versus 5.4 ± 0.7 cm, p = 0.02 and 4.4 ± 0.8 cm versus 3.9 ± 0.8, p = 0.03, respectively). The LVEF was improved similarly between the two groups at one year after TAVR (p = 0.1). Patients with PAR ≥moderate had significantly more adverse LV remodeling at one month after TAVR in terms of LVIDd, LVIDs, and LVMI. The degree of remodeling as expressed in terms of LVIDd, LVIDs, LVMI and LVEF changes from baseline did not have a direct impact on mortality. CONCLUSIONS: A worse PAR was associated with more adverse LV remodeling and a higher mortality after TAVR in a non-PARTNER patient population.


Asunto(s)
Insuficiencia de la Válvula Aórtica/etiología , Insuficiencia de la Válvula Aórtica/mortalidad , Válvula Aórtica/cirugía , Reemplazo de la Válvula Aórtica Transcatéter/efectos adversos , Reemplazo de la Válvula Aórtica Transcatéter/mortalidad , Función Ventricular Izquierda , Remodelación Ventricular , Anciano , Anciano de 80 o más Años , Válvula Aórtica/diagnóstico por imagen , Válvula Aórtica/fisiopatología , Insuficiencia de la Válvula Aórtica/diagnóstico , Insuficiencia de la Válvula Aórtica/fisiopatología , Bases de Datos Factuales , Femenino , Humanos , Estimación de Kaplan-Meier , Masculino , Modelos de Riesgos Proporcionales , Recuperación de la Función , Estudios Retrospectivos , Factores de Riesgo , Índice de Severidad de la Enfermedad , Volumen Sistólico , Factores de Tiempo , Resultado del Tratamiento
7.
Am Heart J ; 167(2): 274-280.e1, 2014 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-24439990

RESUMEN

BACKGROUND: The human KCNE1 protein forms the ß-subunit of the IKs potassium channel and is important in the regulation of the atrial action potential duration. The purpose of this study was to investigate the association between the nonsynonymous 112G>A mutation of the KCNE1 gene and postcardiac surgery atrial fibrillation (AF). METHODS AND RESULTS: A cohort of patients scheduled for cardiac surgery was prospectively recruited. The genotype of 112G>A polymorphism was determined using polymerase chain reaction/restriction fragment analysis and confirmed with direct sequencing of the polymerase chain reaction product. In total, 509 patients were recruited in the study, of whom 203 (39.9%) had at least 1 qualifying episode of postoperative AF. An increased frequency of the G allele was observed in the postoperative AF group compared with the group without postoperative AF (0.628 vs 0.552, respectively, P = .016). The individual's relative risk of postoperative AF increased as the number of G alleles increased from 1.36 (95% CI 0.89-2.08) for G allele heterozygotes to 1.62 (95% CI 1.08-2.43) for G allele homozygotes (P = .04 for trend). The multivariate analysis revealed the abnormal ejection fraction (odds ratio [OR] 1.585, 95% CI 1.076-2.331, P = .020), age (OR 1.043, 95% CI 1.022-1.064, P < .001), type of surgery (aortic valve replacement) (OR 1.869, 95% CI 1.094-3.194, P = .022), and the 112G>A genotype (OR 1.401 [in additive model], 95% CI 1.052-1.865, P = .021) to be independent predictors of postoperative AF. CONCLUSION: This study confirmed the association of the 112G>A polymorphism and postoperative AF in a cohort of patients undergoing cardiac surgery.


Asunto(s)
Fibrilación Atrial/genética , Procedimientos Quirúrgicos Cardíacos/efectos adversos , ADN/genética , Isquemia Miocárdica/cirugía , Polimorfismo Genético , Canales de Potasio con Entrada de Voltaje/genética , Anciano , Alelos , Fibrilación Atrial/etiología , Fibrilación Atrial/fisiopatología , Femenino , Estudios de Seguimiento , Variación Genética , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Periodo Posoperatorio , Canales de Potasio con Entrada de Voltaje/metabolismo , Estudios Prospectivos , Factores de Riesgo
8.
J Clin Med ; 13(12)2024 Jun 20.
Artículo en Inglés | MEDLINE | ID: mdl-38930142

RESUMEN

Background/Objectives: Myelin oligodendrocyte glycoprotein (MOG) is exclusively expressed in the central nervous system (CNS) and is found on the outer surface of oligodendrocytes. Antibodies to MOG are associated with CNS demyelination, whereas peripheral nervous system (PNS) demyelination is seldom reported to be related to MOG-IgG. Methods: The database of patients seen in our neurological academic center was searched for MOG-IgG seropositivity and concomitant demyelinating polyneuropathy. For the purpose of the review, in March 2024, we searched for case reports and case series in the following databases: PubMed, Scopus, Cochrane, and ScienceDirect. Inclusion criteria were MOG-IgG seropositivity and demyelinating polyneuropathy. Exclusion criteria were type of publication other than case reports and case series, unconfirmed diagnosis of demyelinating polyneuropathy, and other diseases causing demyelination in either the CNS or PNS. Critical appraisal of the selected case reports and case series was realized by JBI. Results: Four new cases were identified with MOG-IgG and confirmed demyelinating polyneuropathy. This review identified 22 cases that have been published since 2018. Clinical, imaging, neurophysiological, and immunological characteristics, as well as treatment options and outcomes are presented and compared to those of other cases with combined central and peripheral demyelination (CCPD). Conclusions: The pathogenetic mechanism is unclear; thus, different hypotheses are discussed. New case reporting and large cohort studies will help further the exploration of the underlying mechanism and guide more effective therapeutic interventions.

9.
J Invasive Cardiol ; 36(8)2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38598250

RESUMEN

BACKGROUND: Artificial intelligence (AI) is increasingly utilized in interventional cardiology (IC) and holds the potential to revolutionize the field. METHODS: We conducted a global, web-based, anonymous survey of IC fellows and attendings to assess the knowledge and perceptions of interventional cardiologists regarding AI use in IC. RESULTS: A total of 521 interventional cardiologists participated in the survey. The median age range of participants was 36 to 45 years, most (51.5%) practice in the United States, and 7.5% were women. Most (84.7%) could explain well or somehow knew what AI is about, and 63.7% were optimistic/very optimistic about AI in IC. However, 73.5% believed that physicians know too little about AI to use it on patients and most (46.1%) agreed that training will be necessary. Only 22.1% were currently implementing AI in their personal clinical practice, while 60.6% estimated implementation of AI in their practice during the next 5 years. Most agreed that AI will increase diagnostic efficiency, diagnostic accuracy, treatment selection, and healthcare expenditure, and decrease medical errors. The most tried AI-powered tools were image analysis (57.3%), ECG analysis (61.7%), and AI-powered algorithms (45.9%). Interventional cardiologists practicing in academic hospitals were more likely to have AI tools currently implemented in their clinical practice and to use them, women had a higher likelihood of expressing concerns regarding AI, and younger interventional cardiologists were more optimistic about AI integration in IC. CONCLUSIONS: Our survey suggests a positive attitude of interventional cardiologists regarding AI implementation in the field of IC.


Asunto(s)
Inteligencia Artificial , Cardiólogos , Humanos , Femenino , Masculino , Persona de Mediana Edad , Adulto , Encuestas y Cuestionarios , Cardiología , Conocimientos, Actitudes y Práctica en Salud , Actitud del Personal de Salud , Estados Unidos
10.
Mol Syndromol ; 13(5): 425-432, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36588753

RESUMEN

Introduction: Coffin-Siris syndrome (CSS) (MIM #135900) is an extremely rare genetic multisystemic disorder characterized by aplasia or hypoplasia of the upper phalanx of the fifth finger, moderate to severe cognitive and/or developmental delay, and characteristic facial features (thick lashes, hypertrichosis of the trunk, sparse hair). Congenital anomalies of the brain, kidney, and heart have been described but are less consistent across patients. Case presentation: We report a case of a 12-year-5-month-old girl with the clinical features of CSS, severe scoliosis, and epilepsy. Growth hormone deficiency was diagnosed at the age of 9 years. Recombinant human growth hormone (rhGH) treatment was started that resulted in a significant improvement of the growth velocity up to 5.4 cm/year (>90-97th centile). Next-generation sequencing identified a mutation in the ARID1B gene. Discusion: Despite its phenotypic heterogeneity, key features of CSS have become clearer and along with molecular diagnosis, a further global approach to improve the care of these individuals is enabled. Appropriate therapies for this population are needed to optimize growth and intellectual potentials.

11.
Mol Syndromol ; 12(3): 194-199, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-34177437

RESUMEN

Snyder-Robinson syndrome (SRS) is an extremely rare X-linked intellectual disability syndrome (MRXSSR; MIM #309583). The main clinical features of SRS include psychomotor delay, hypotonia, and asthenic-type body habitus - reduced body weight and bone abnormalities (osteoporosis, fractures, kyphoscoliosis). We report a case of SRS with a hemizygous missense variant in the SMS gene,c.334C>G (p.Pro112Ala), in a 4-year-old boy, who initially developed hypotonia, delayed motor skills, and subsequently epilepsy. This variant in SMS was found to be de novo. To the best of our knowledge, this novel SMS gene variant has never been previously reported in disease-related variation databases, such as ClinVar or HGMD.

12.
J Thromb Thrombolysis ; 30(3): 365-71, 2010 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-20602249

RESUMEN

Genetic polymorphy of the distal promoter region of the ST2 gene influences transcriptional activity and susceptibility to atopic dermatitis and asthma. Based on the inflammatory background of atherosclerosis we hypothesized that ST2 distal promoter genetic polymorphy could also affect susceptibility to coronary artery disease (CAD). To test our hypothesis we performed direct sequencing of a 825 bp locus of the distal promoter -with previously reported significant polymorphy in 63 angiographically diagnosed CAD patients and 63 age and sex matched controls with negative coronary angiography. We identified 13 polymorphisms spanning this region two of which (-27307 T/A and -27614 C/A) had allele frequencies greater than 0.05. We further genotyped 111 subjects by applying allele-specific real-time PCR for the -27307 T/A and 27614 C/A polymorphisms, thereby increasing our sample to 129 CAD patients and 108 age- and sex-matched controls. We identified no phenotype-genotype interactions between cases and controls. However, among case subjects the severity of CAD expressed as a mean number of diseased vessels was greater in -27307 A allele carriers and either allele carriers (-27614 A or -27307 A) than in non-carriers (2.56 ± 0.73 vs. 1.83 ± 0.84, adjusted P = 0.027; 2.47 ± 0.74 vs. 1.8 ± 0.83, adjusted P = 0.023). Additionally, either allele carriers (-27614 A or -27307 A) were significantly more common in the multi-vessel disease group (n = 54) than in the single-vessel disease group (n = 75). In conclusion, we reported two new polymorphisms in the distal promoter region of the ST2 gene that possibly influence susceptibility to severe CAD. The functional impact of these polymorphisms remains to be determined.


Asunto(s)
Enfermedad de la Arteria Coronaria/diagnóstico , Polimorfismo Genético , Regiones Promotoras Genéticas/genética , Receptores de Superficie Celular/genética , Índice de Severidad de la Enfermedad , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Estudios de Casos y Controles , Niño , Angiografía Coronaria , Enfermedad de la Arteria Coronaria/genética , Análisis Mutacional de ADN , Recolección de Datos , Bases de Datos de Ácidos Nucleicos , Femenino , Humanos , Proteína 1 Similar al Receptor de Interleucina-1 , Masculino , Persona de Mediana Edad , Adulto Joven
13.
J Neuromuscul Dis ; 7(3): 247-256, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32417790

RESUMEN

BACKGROUND: Promising genetic treatments targeting the molecular defect of severe early-onset genetic conditions are expected to dramatically improve patients' quality of life and disease epidemiology. Spinal Muscular Atrophy (SMA), is one of these conditions and approved therapeutic approaches have recently become available to patients. OBJECTIVE: Analysis of genetic and clinical data from SMA patients referred to the single public-sector provider of genetic services for the disease throughout Greece followed by a retrospective assessment in the context of epidemiology and genotype-phenotype associations. METHODS: Molecular genetic analysis and retrospective evaluation of findings for 361 patients tested positive for SMA- and 862 apparently healthy subjects from the general population. Spearman rank test and generalized linear models were applied to evaluate secondary modifying factors with respect to their impact on clinical severity and age of onset. RESULTS: Causative variations- including 5 novel variants- were detected indicating a minimal incidence of about 1/12,000, and a prevalence of at least 1.5/100,000. For prognosis a minimal model pertaining disease onset before 18 months was proposed to include copy numbers of NAIP (OR = 9.9;95% CI, 4.7 to 21) and SMN2 (OR = 6.2;95% CI, 2.5-15.2) genes as well as gender (OR = 2.2;95% CI, 1.04 to 4.6). CONCLUSIONS: This long-term survey shares valuable information on the current status and practices for SMA diagnosis on a population basis and provides an important reference point for the future assessment of strategic advances towards disease prevention and health care planning.


Asunto(s)
Atrofia Muscular Espinal/epidemiología , Atrofia Muscular Espinal/genética , Adolescente , Adulto , Anciano , Niño , Preescolar , Estudios de Asociación Genética , Grecia , Humanos , Incidencia , Lactante , Masculino , Persona de Mediana Edad , Prevalencia , Estudios Retrospectivos , Adulto Joven
14.
Curr Treat Options Cardiovasc Med ; 21(3): 15, 2019 Mar 11.
Artículo en Inglés | MEDLINE | ID: mdl-30854580

RESUMEN

PURPOSE OF REVIEW: Coronary artery disease remains the most common cause of death worldwide. In patients with biomarker-positive acute coronary syndrome, the combination of guideline-directed medical therapy with routine revascularization is associated with improved outcomes. However, the role of routine revascularization in stable ischemic heart disease, in addition to medical therapy, remains a matter of debate. In this review, we aimed to describe the role of revascularization in stable ischemic heart disease. RECENT FINDINGS: Revascularization is indicated in patients with stable ischemic heart disease and progressive or refractory symptoms, despite medical management. When guided by ischemia presence, revascularization has failed to show survival benefit, compared with medical therapy alone in multiple clinical trials. On the other hand, revascularization guided by coronary lesion severity, assessed by FFR or iFR, has been shown to offer survival benefit and improvement in symptom severity. PCI-revascularization of unprotected left main disease is feasible with comparable to surgical approach outcomes. Clinical decision to perform revascularization in stable ischemic heart disease necessitates a heart team approach, and no simple algorithm can guide this process. Further studies are required to assess the benefit of routine revascularization, in combination to medical therapy, in this population.

16.
Healthcare (Basel) ; 6(2)2018 Mar 28.
Artículo en Inglés | MEDLINE | ID: mdl-29597247

RESUMEN

IMPORTANCE: Heart failure (HF) is the leading cause of hospitalization among patients over the age of 65 in the United States and developed countries, posing a significant economic burden to the health care systems. More than half of the patients with HF will be readmitted to the hospital within 6 months from discharge, leading not only to increased health care related expenses but also functional decline, iatrogenic injuries and in-hospital infections. With the increasing prevalence of HF, there is a substantial need for innovative delivery care models that can provide hospital level of care at a patient's home. OBSERVATIONS: Home hospitalization was originally used to safely manage chronically ill patients with general medical (stroke, chronic obstructive pulmonary disease, deep vein thrombosis, community acquired pneumonia) and surgical conditions and was associated with improved patient satisfaction and improvement in activity of daily living status. This had no clear effect on readmission or cost. When hospital at home care model was applied to HF patients it demonstrated increased time to readmission, reduced index costs and improved health related quality of life, with no significant differences in adverse events. Eligible patients should be selected based on multiple factors taking into consideration applicable limitations and comorbidities. CONCLUSIONS AND RELEVANCE: Providing in-hospital level care to the patient's house presents a reliable alternative, yielding multiple benefits both for the patient, as well as the health care system. Formulating a well-defined model is necessary before wide implementation.

17.
Curr Treat Options Cardiovasc Med ; 20(3): 22, 2018 Mar 06.
Artículo en Inglés | MEDLINE | ID: mdl-29508124

RESUMEN

PURPOSE OF REVIEW: Transcatheter aortic valve replacement (TAVR) has become an established therapy for patients with symptomatic severe aortic stenosis (AS). As the number of patients referred for TAVR increases, so does the prevalence of untreated obstructive coronary artery disease (CAD) in the population under evaluation. Despite the high prevalence of CAD in patients treated with TAVR, the management strategy of concomitant CAD in these patients remains an area of considerable uncertainty. RECENT FINDINGS: Percutaneous coronary intervention (PCI) in patients with CAD and severe AS has been shown to be feasible and safe. Whether revascularization before, during, or after TAVR is optimal remains a subject of debate. All three approaches represent valid strategies with advantages and disadvantages that need to be carefully weighed on an individual basis. Current expert opinions recommend that PCI should be performed before or at the time of TAVR as long as the risk of the procedure does not outweigh the potential benefits. The results of large clinical trials evaluating the optimal revascularization time are closely awaited.

18.
Ther Adv Neurol Disord ; 11: 1756286418768778, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29774053

RESUMEN

BACKGROUND: Recent evidence suggests that patients with herpes simplex virus (HSV) encephalitis may relapse because of autoimmunity against the N-methyl-D-aspartate receptor (NMDAR). We present a case series of post-HSV relapsing encephalopathy associated with antibodies to central nervous system (CNS) synaptic antigens. PATIENT/METHODS: Sera and cerebrospinal fluid (CSF) from five patients with HSV encephalitis who relapsed after antiviral therapy were tested for anti-NMDAR, gamma-aminobutyric acid b receptor (GABAbR), α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR), Leucine-rich, glioma inactivated 1 (LGI1), anti -contactin-associated protein-like 2 (CASPR2) and dipeptidyl-peptidase-like protein-6 (DDPX) antibodies using cell-based assays. RESULTS: Five patients (two infants, one child and two adults) developed post-HSV autoimmune encephalitis. The infants, aged 9 months and 10 months, after prompt and seemingly successful anti-HSV therapy, were readmitted with typical signs of NMDAR-encephalitis evolving within days, with NMDAR antibodies detected in both serum and CSF. Although they were promptly treated with intravenous immunoglobulin (IVIg) and with IVIg followed by rituximab, respectively, they were both left with psychomotor deficits. A 14-year-old girl with seizures due to HSV encephalitis improved with anti-HSV therapy. Later, she manifested intractable seizures and she was found positive for anti-NMDAR antibodies which persist. The two adults were women, aged 58 and 33 years. The first recovered after anti-HSV therapy and remained asymptomatic for 6 months, until she developed generalized seizures with persisting CSF anti-NMDAR antibodies; the second, who continued to be encephalopathic after 2 weeks of anti-HSV therapy, tested positive for anti-NMDAR antibodies in the serum and anti-GABAbR antibodies in the serum and CSF. She recovered fully following IVIg therapy but her serum anti-GABAbR antibodies persist 34 months later. DISCUSSION: Infection of the CNS with HSV can trigger CNS autoimmunity associated not only with anti-NMDAR but also with anti-GABAbR antibodies. These antibodies can persist in the serum, even without associated symptoms, but their presence in the CSF is firmly associated with disease development. In contrast to children and adults who responded well to therapies, the infants had an incomplete recovery with severe psychomotor deficits probably due to the interference of anti-NMDAR antibodies with neuro-developmental processes.

19.
Eur J Paediatr Neurol ; 11(6): 358-61, 2007 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-17428707

RESUMEN

OBJECTIVE: Lipid abnormalities and thyroid dysfunction have been reported in patients treated with antiepileptic drugs. The aim of this study was to evaluate prospectively the association between thyroid and lipid profile in children treated with carbamazepine (CBZ) monotherapy. MATERIALS AND METHODS: Thyroid function was evaluated in 18 epileptic children, previously reported with CBZ-induced changes in serum lipid profile, before and at 6, 12 and 24 months of CBZ monotherapy. RESULTS: All children had normal thyroid function before the initiation of CBZ treatment. During CBZ therapy thyroid dysfunction, with increased thyrotropin (TSH) and decreased thyroxine (T4), free thyroxine (FT4) and triiodothyronine (T3) was found, while, significant association was revealed between serum low-density lipoprotein cholesterol (LDL-C) and TSH levels at 6 (r=0.469; p=0.043) and 12 (r=0.730; p=0.001) months of treatment. CONCLUSION: Lipid abnormalities may be associated with thyroid hormone disturbance in children treated with CBZ monotherapy. Since thyroid dysfunction and hypercholesterolemia are both associated with a higher atherosclerotic risk special attention and further studies are needed in epileptic patients treated with CBZ monotherapy.


Asunto(s)
Anticonvulsivantes/efectos adversos , Carbamazepina/efectos adversos , LDL-Colesterol/sangre , Enfermedades de la Tiroides/inducido químicamente , Adolescente , Niño , Preescolar , Epilepsia/tratamiento farmacológico , Femenino , Humanos , Inmunoensayo , Masculino , Estadística como Asunto , Enfermedades de la Tiroides/sangre , Pruebas de Función de la Tiroides , Tirotropina/sangre , Tiroxina/sangre , Triyodotironina/sangre
20.
Clin Neuropharmacol ; 30(3): 145-9, 2007.
Artículo en Inglés | MEDLINE | ID: mdl-17545749

RESUMEN

OBJECTIVE: Hypoalbuminemia has been reported in patients with severe disability and epilepsy and in patients with epilepsy treated with short-term sodium valproate (VPA) therapy; however, serum albumin concentrations have not previously been determined in otherwise healthy patients with epilepsy and receiving long-term VPA monotherapy. METHODS: Serum albumin concentrations were determined in 26 ambulatory children with epilepsy before and at 6, 12, and 24 months of VPA monotherapy. Serum total protein concentrations and serum concentrations of other biochemical markers of liver and renal function such as alanine aminotransferase, aspartate aminotransferase, gamma-glutamyltransferase, and creatinine concentration were also measured in the study participants before and at 6, 12, and 24 months of treatment. RESULTS: Serum albumin concentrations were reduced at 6 months of treatment (P = 0.007). Serum alanine aminotransferase concentrations were significantly increased at 6 (P = 0.034) and 12 months of treatment (P = 0.046), whereas serum aspartate aminotransferase concentrations were significantly increased at 6 (P = 0.002) and 12 months of treatment (P = 0.002). There were no significant correlations between serum albumin and the other parameters at 6 months of treatment. CONCLUSIONS: Ambulatory children who receive VPA monotherapy may have early but transient decrease in serum albumin concentrations. Further studies are needed to address this issue and to determine the possible clinical implications and the mechanisms involved in VPA-mediated decrease in serum albumin concentrations.


Asunto(s)
Epilepsia/sangre , Albúmina Sérica/efectos de los fármacos , Ácido Valproico/farmacología , Adolescente , Alanina Transaminasa/sangre , Niño , Preescolar , Epilepsia/tratamiento farmacológico , Femenino , Humanos , Masculino , Albúmina Sérica/análisis , Factores de Tiempo , Ácido Valproico/uso terapéutico
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