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1.
Clin Auton Res ; 34(2): 281-291, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38662269

RESUMO

PURPOSE: Neurogenic orthostatic hypotension (nOH) is a frequent nonmotor feature of Parkinson's disease (PD), associated with adverse outcomes. Recently, 24-h ambulatory blood pressure monitoring (ABPM) showed good accuracy in diagnosing nOH. This study aims at evaluating the prognostic role of ABPM-hypotensive episodes in predicting PD disability milestones and mortality and comparing it to the well-defined prognostic role of bedside nOH. METHODS: Patients with PD who underwent ABPM from January 2012 to December 2014 were retrospectively enrolled and assessed for the development of falls, fractures, dementia, bed/wheelchair confinement, hospitalization, and mortality, during an up-to-10-year follow-up. Significant ABPM-hypotensive episodes were identified when greater than or equal to two episodes of systolic BP drop ≥ 15 mmHg (compared with the average 24 h) were recorded during the awakening-to-lunch period. RESULTS: A total of 99 patients (74% male, age 64.0 ± 10.1 years, and PD duration 6.4 ± 4.0 years) were enrolled. At baseline, 38.4% of patients had ABPM-hypotensive episodes and 46.5% had bedside nOH. On Kaplan-Meier analysis, patients with ABPM-hypotensive episodes showed earlier onset of falls (p = 0.001), fractures (p = 0.004), hospitalizations (p = 0.009), bed/wheelchair confinement (p = 0.032), dementia (p = 0.001), and shorter survival (8.0 versus 9.5 years; p = 0.009). At Cox regression analysis (adjusted for age, disease duration, Charlson Comorbidity Index, and Hoehn and Yahr stage) a significant association was confirmed between ABPM-hypotensive episodes and falls [odds ratio (OR) 3.626; p = 0.001), hospitalizations (OR 2.016; p = 0.038), and dementia (OR 2.926; p = 0.008), while bedside nOH was only associated with falls (OR 2.022; p = 0.039) and dementia (OR 1.908; p = 0.048). CONCLUSIONS: The presence of at least two ABPM-hypotensive episodes independently predicted the development of falls, dementia, and hospitalization, showing a stronger prognostic value than the simple bedside assessment.


Assuntos
Monitorização Ambulatorial da Pressão Arterial , Hipotensão Ortostática , Doença de Parkinson , Humanos , Masculino , Feminino , Doença de Parkinson/diagnóstico , Doença de Parkinson/complicações , Doença de Parkinson/fisiopatologia , Monitorização Ambulatorial da Pressão Arterial/métodos , Pessoa de Meia-Idade , Idoso , Estudos Retrospectivos , Hipotensão Ortostática/diagnóstico , Hipotensão Ortostática/fisiopatologia , Prognóstico , Valor Preditivo dos Testes , Seguimentos
2.
BMC Cardiovasc Disord ; 20(1): 274, 2020 06 05.
Artigo em Inglês | MEDLINE | ID: mdl-32503490

RESUMO

BACKGROUND: Ventricular strain measurements vary depending on cardiac chamber (left ventricle [LV] or right ventricle [RV]), type of strain (longitudinal, circumferential, or radial), ventricular level (basal, mid, or apical), myocardial layer (endocardial or epicardial), and software used for analysis, among other demographic factors such as age and gender. Here, we present an analysis of ventricular strain taking all of these variables into account in a cohort of patients with no structural heart disease using a vendor-independent speckle-tracking software. METHODS: LV and RV full-thickness strain parameters were retrospectively measured in 102 patients (mean age 39 ± 15 years; 62% female). Within this cohort, we performed further layer-specific strain analysis in 20 subjects. Data were analyzed for global and segmental systolic strain, systolic strain rate, early diastolic strain rate, and their respective time-to-peak values. RESULTS: Mean LV global longitudinal, circumferential, and radial strain values for the entire cohort were - 18.4 ± 2.0%, - 22.1 ± 4.1%, and 43.9 ± 12.1% respectively, while mean RV global and free wall longitudinal strain values were - 24.2 ± 3.9% and - 26.1 ± 5.2% respectively. Women on average demonstrated higher longitudinal and circumferential strain and strain rate than men, and longer corresponding time-to-peak values. Longitudinal strain measurements were highest at the apex compared with the mid ventricle and base, and in the endocardium compared with the epicardium. Longitudinal strain was the most reproducible measure, followed closely by circumferential strain, while radial strain showed suboptimal reproducibility. CONCLUSIONS: We present an analysis of ventricular strain in patients with no structural heart disease using a vendor-independent speckle-tracking software.


Assuntos
Ecocardiografia , Ventrículos do Coração/diagnóstico por imagem , Interpretação de Imagem Assistida por Computador , Função Ventricular Esquerda , Função Ventricular Direita , Adulto , Bases de Dados Factuais , Diástole , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Estudos Retrospectivos , Software , Sístole , Adulto Jovem
3.
BMC Cardiovasc Disord ; 20(1): 21, 2020 01 20.
Artigo em Inglês | MEDLINE | ID: mdl-31959111

RESUMO

BACKGROUND: Sarcoidosis is a systemic granulomatous disease that may affect the myocardium. This study evaluated the diagnostic and prognostic value of 2-dimensional speckle tracking echocardiography in cardiac sarcoidosis (CS). METHODS: Eighty-three patients with extracardiac, biopsy-proven sarcoidosis and definite/probable diagnosis of cardiac involvement diagnosed from January 2005 through December 2016 were included. Strain parameters in early stages of CS, in a subgroup of 23 CS patients with left ventricular ejection fraction (LVEF) within normal limits (LVEF> 52% for men: > 54% for women, mean value: 57.3% ± 3.8%) and no wall motion abnormalities was compared with 97 controls (1:4) without cardiac disease. LV and right ventricular (RV) global longitudinal (GLS), circumferential (GCS), and radial (GRS) strain and strain rate (SR) analyses were performed with TomTec software and correlated with cardiac outcomes (including heart failure and arrhythmias). This study was approved by the Mayo Clinic Institutional Review Board, and all patients gave informed written consent to participate. RESULTS: Mean age of CS patients was 53.6 ± 10.8 years, and 34.9% were women. Mean LVEF was 43.2% ± 12.4%; LV GLS, - 12.4% ± 3.7%; LV GCS, - 17.1% ± 6.5%; LV GRS, 29.3% ± 12.8%; and RV wall GLS, 14.6% ± 6.3%. In the 23 patients with early stage CS with normal LVEF and RV systolic function, strain parameters were significantly reduced when compared with controls (respectively: LV GLS, - 15.9% ± 2.5% vs - 18.2% ± 2.7% [P = .001]; RV GLS, - 16.9% ± 4.5% vs - 24.1% ± 4.0% [P < .001]). A LV GLS value of - 16.3% provided 82.2% sensitivity and 81.2% specificity for the diagnosis of CS (AUC 0.91), while a RV value of - 19.9% provided 88.1% sensitivity and 86.7% specificity (AUC 0.93). Hospital admission and heart failure significantly correlated to impaired LV GLS (> - 14%). CONCLUSION: Reduced strain values in the LV GLS and RV GLS can be used in the diagnostic algorithm in patients with suspicion of cardiac sarcoidosis. These values also correlate with adverse cardiovascular events.


Assuntos
Cardiomiopatias/diagnóstico por imagem , Ecocardiografia Doppler , Insuficiência Cardíaca/diagnóstico por imagem , Sarcoidose/diagnóstico por imagem , Adulto , Idoso , Cardiomiopatias/fisiopatologia , Cardiomiopatias/terapia , Progressão da Doença , Feminino , Insuficiência Cardíaca/fisiopatologia , Insuficiência Cardíaca/terapia , Humanos , Masculino , Pessoa de Meia-Idade , Admissão do Paciente , Valor Preditivo dos Testes , Prognóstico , Estudos Retrospectivos , Sarcoidose/fisiopatologia , Sarcoidose/terapia , Volume Sistólico , Função Ventricular Esquerda , Função Ventricular Direita
4.
Liver Int ; 36(8): 1081-9, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-27003923

RESUMO

In patients affected by hepatic cirrhosis, autonomic dysfunction is a common finding; usually it is asymptomatic but it may correlate with increased mortality and morbidity before, during and after liver transplant, due to hemodynamic instability in the course of stressful events like sepsis, gastrointestinal bleeding and reperfusion after transplantation surgery. Hyperdynamic circulation and hepatic dysfunction seem to play a role in the pathogenesis of autonomic dysfunction, even if pathophysiological mechanisms are not completely known. We present a revision of previous literature about prevalence, pathophysiological mechanisms, clinical features, and mortality and morbidity of autonomic dysfunction secondary to hepatic cirrhosis.


Assuntos
Doenças do Sistema Nervoso Autônomo/epidemiologia , Sistema Nervoso Autônomo/fisiopatologia , Cirrose Hepática/complicações , Cirrose Hepática/cirurgia , Transplante de Fígado/efeitos adversos , Doenças do Sistema Nervoso Autônomo/etiologia , Hemorragia Gastrointestinal/complicações , Humanos , Complicações Pós-Operatórias/epidemiologia , Reperfusão , Sepse
5.
Brain Inj ; 30(2): 164-71, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26647093

RESUMO

BACKGROUND: Cranioplasty is the surgical answer to cranial defect due to decompressive craniectomy in order to increase patient's safety and for cosmetic reasons. Two main neurological sequelae of skull breaches have been described and cranioplasty has been suggested as a way to treat these neurological symptoms, but its effects on cognitive and motor functions are still unclear. MATERIALS AND METHODS: In order to better elucidate if and to what extent the cranioplasty affects the whole array of cognitive functions or just some specific domains, 29 patients were studied pre- and post-cranioplasty, with structured assessments of memory, attention, language and executive functioning performed ~ 4 months and 1 month before cranioplasty and 1 month and 6 months after surgery. RESULTS AND CONCLUSION: Cranioplasty affects the cognitive profile with a non-specific pattern of change. Timing of the cranioplasty plays a key role to enucleate cognitive improvement, indeed greater cognitive changes were seen in patients who had cranioplasty within 6 months following the injury. Thus, cranioplasty must be considered a key factor in neuropsychological recovery and should be performed as soon as possible following the injury in order to take advantage of the window of opportunity for rehabilitation.


Assuntos
Lesões Encefálicas/reabilitação , Craniectomia Descompressiva/efeitos adversos , Adulto , Idoso , Lesões Encefálicas/cirurgia , Cognição/fisiologia , Craniectomia Descompressiva/métodos , Função Executiva/fisiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Procedimentos de Cirurgia Plástica/métodos , Crânio/cirurgia , Fatores de Tempo , Resultado do Tratamento
6.
Clin Auton Res ; 25(3): 133-40, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25791260

RESUMO

Patients with autonomic failure are characterized by orthostatic hypotension, supine hypertension, high blood pressure variability, blunted heart rate variability, and often have a "non-dipping" or "reverse dipping" pattern on 24-h ambulatory blood pressure monitoring. These alterations may lead to cardiovascular and cerebrovascular changes, similar to the target organ damage found in hypertension. Often patients with autonomic failure are on treatment with anti-hypotensive drugs, which may worsen supine hypertension. The aim of this review is to summarize the evidence for cardiac, vascular, renal, and cerebrovascular damage in patients with autonomic failure.


Assuntos
Doenças Cardiovasculares/etiologia , Insuficiência Autonômica Pura/complicações , Fármacos do Sistema Nervoso Autônomo/efeitos adversos , Fármacos do Sistema Nervoso Autônomo/uso terapêutico , Pressão Sanguínea/fisiologia , Doenças Cardiovasculares/patologia , Humanos , Insuficiência Autonômica Pura/patologia
7.
Clin Auton Res ; 24(4): 195-8, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24879449

RESUMO

Patients with autonomic failure experience orthostatic hypotension (OH) often leading to syncope. Arrhythmias may cause severe syncope, characterized by an increased risk of mortality. We report two cases of patients with primary autonomic neuropathy suffering from both severe OH and arrhythmic syncope.


Assuntos
Arritmias Cardíacas/etiologia , Hipotensão Ortostática/complicações , Síncope/etiologia , Anti-Inflamatórios/uso terapêutico , Doenças do Sistema Nervoso Autônomo/complicações , Eletrocardiografia Ambulatorial , Feminino , Fludrocortisona/uso terapêutico , Humanos , Masculino , Pessoa de Meia-Idade , Marca-Passo Artificial , Insuficiência Autonômica Pura/complicações , Insuficiência Autonômica Pura/tratamento farmacológico , Insuficiência Autonômica Pura/fisiopatologia , Reflexo
8.
Res Sq ; 2024 Feb 06.
Artigo em Inglês | MEDLINE | ID: mdl-38405860

RESUMO

Purpose: Neurogenic orthostatic hypotension (nOH) is a frequent non-motor feature of Parkinson's disease (PD), associated with adverse outcomes. Recently, 24-hour ambulatory BP monitoring (ABPM) has been shown to diagnose nOH with good accuracy (in the presence of at least 2 episodes of systolic BP drop ≥ 15 mmHg compared to the average 24-h). This study aims at evaluating the prognostic role of ABPM-hypotensive episodes in predicting PD disability milestones and mortality and comparing it to well-defined prognostic role of nOH. Methods: PD patients who underwent ABPM from January 2012 to December 2014 were retrospectively enrolled and assessed for the development of falls, fractures, dementia, bed/wheelchair confinement, hospitalization, mortality, during an up-to-10-year follow-up. Results: Ninety-nine patients (male 74%; age: 64.0 ± 10.1 years; PD duration: 6.4 ± 4.0 years) were enrolled. At baseline, 38.4% of patients had ABPM-hypotensive episodes and 46.5% had bedside nOH.At Kaplan-Meier analysis patients with ABPM-hypotensive episodes had an earlier onset of falls (p = 0.001), fractures (p = 0.004), hospitalizations (p = 0.009), bed/wheelchair confinement (p = 0.032), dementia (p = 0.001), and showed a shorter survival (8.0vs9.5 years; p = 0.009). At Cox regression analysis (adjusted for age, disease duration, Charlson Comorbidity Index, and H&Y stage at baseline) a significant association was confirmed between ABPM-hypotensive episodes and falls (OR:3.626; p = 0.001), hospitalizations (OR:2.016; p = 0.038), and dementia (OR:2.926; p = 0.008), while bedside nOH was only associated with falls (OR 2.022; p = 0.039) and dementia (OR:1.908; p = 0.048). Conclusion: The presence of at least two ABPM-hypotensive episodes independently predicted the development of falls, dementia, and hospitalization, showing a stronger prognostic value than the simple bedside assessment.

10.
J Cardiovasc Dev Dis ; 10(10)2023 Oct 04.
Artigo em Inglês | MEDLINE | ID: mdl-37887865

RESUMO

1. Background: We sought to determine acute and subacute changes in cardiac function after proton beam (PBT) and photon beam (PhT) radiotherapy (RT) using conventional and two-dimensional speckle tracking echocardiography (2D-STE) in patients with malignant breast and thoracic tumors. 2. Methods: Between March 2016 and March 2017, 70 patients with breast or thoracic cancer were prospectively enrolled and underwent transthoracic echocardiography with comprehensive strain analysis at pretreatment, mid-treatment, end of treatment, and 3 months after RT. 3. Results: PBT was used to treat 44 patients; PhT 26 patients. Mean ± SD age was 55 ± 12 years; most patients (93%) were women. The median (interquartile range) of the mean heart dose was lower in the PBT than the PhT group (47 [27-79] vs. 217 [120-596] cGy, respectively; p < 0.001). Ejection fraction did not change in either group. Only the PhT group had reduced systolic tissue Doppler velocities at 3 months. 2D-STE showed changes in endocardial and epicardial longitudinal, radial, and circumferential early diastolic strain rate (SRe) in patients undergoing PhT (global longitudinal SRe, pretreatment vs. end of treatment (p = 0.04); global circumferential SRe, pretreatment vs. at 3-month follow-up (p = 0.003); global radial SRe, pretreatment vs. at 3-month follow-up (p = 0.02) for endocardial values). Epicardial strain values decreased significantly only in patients treated with PhT. Patients in the PhT group had a significant decrease in epicardial global longitudinal systolic strain rate (GLSRs) (epicardial GLSRs, at baseline vs. at end of treatment [p = 0.009]) and in GCSRe and GRSRe (epicardial GCSRe, at baseline vs. at 3-month follow-up (p = 0.02); epicardial GRSRe, at baseline vs. at 3-month follow-up (p = 0.03)) during treatment and follow-up. No changes on 2D-STE were detected in the PBT group. 4. Conclusions: Patients who underwent PhT but not PBT had reduced tissue Doppler velocities and SRe values during follow-up, suggesting early myocardial relaxation abnormalities. PBT shows promise as a cardiac-sparing RT technology.

12.
Clin Exp Hypertens ; 34(7): 510-6, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22574940

RESUMO

This study tested the association between cognitive functions, cerebrovascular damage, and cerebrovascular reactivity in 71 essential young hypertensives (age matched) and 22 normotensives (age matched). They underwent ambulatory blood pressure monitoring, neurocognitive tests, cerebral magnetic resonance, and transcranial Doppler. Twenty-three percent of patients showed more than 10 white matter lesions and 8% showed none. No control subjects showed more than 10 white matter lesions and 90% of normal controls showed no lesions. Patients with more than 10 white matter alterations had longer hypertensive story and showed significant lower nocturnal blood pressure fall. Pulsatility index was correlated with the number of white matter lesions.


Assuntos
Pressão Sanguínea/fisiologia , Transtornos Cerebrovasculares/complicações , Hipertensão/etiologia , Idoso , Monitorização Ambulatorial da Pressão Arterial/métodos , Cognição/fisiologia , Feminino , Humanos , Hipertensão/fisiopatologia , Espectroscopia de Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos
13.
Brain Inj ; 26(10): 1250-6, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22616735

RESUMO

PRIMARY OBJECTIVE: Even in non-communicative disorders of consciousness such as vegetative and minimally conscious states, increasing the personal relevance and complexity of stimuli appears to enhance their activating effect in patients. It was hypothesized that enriched stimulation in an immersive environment could increase the number and/or the goal-directed quality of active movements. METHODS, RESEARCH DESIGN AND PROCEDURES: Twelve patients with severe disorders of consciousness in the post-acute phase underwent an experimental protocol of sensory stimulation based on biographically meaningful objects. Enriched stimulation was compared to both a pattern of stimulation without augmented context and to standard interactions in a clinical setting. An A-B-C-B-A paradigm was applied to minimize the confounding effects of clinical changes during the protocol. The motor behaviours were recorded using the Wessex Head Injury Matrix (WHIM) and analysed with standard parametric statistics. RESULTS AND CONCLUSIONS: The results show a difference in patient response as a function of stimulation context: familiar objects in an augmented environment elicited a greater range of behavioural responses. These results support the hypothesis that the emotional richness and complexity of environmental stimuli can play a key role in evoking active behaviours.


Assuntos
Percepção Auditiva , Estado Vegetativo Persistente/fisiopatologia , Estado Vegetativo Persistente/reabilitação , Tato , Adulto , Conscientização , Emoções , Feminino , Humanos , Masculino , Adulto Jovem
14.
Br J Neurosurg ; 26(6): 827-31, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22702390

RESUMO

OBJECTIVE: Decompressive craniectomy is often emergently performed in an effort to reduce intracranial hypertension. After this urgent intervention, brain-injured patients often start rehabilitation programs but are left with a skull defect. Cranioplasty is often performed in these situations in order to repair this defect, mainly for cosmetic reasons and/or the patient's safety. The possible effects of this breach on the patients' neurological recovery are poorly understood and have been scarcely evaluated until now. The effect of cranioplasty on cognitive and motor functions in severely brain-injured individuals remains controversial. METHODS AND PROCEDURES: In order to further support evidence of the beneficial effects of cranioplasty on motor and cognitive function in severely brain-injured individuals, we discuss four cases, retrospectively selected among a cohort of several patients who underwent decompressive craniectomy after severe brain injury. The selected patients presented a biphasic pattern of recovery of cognitive and motor performance consisting of an initial improvement, followed by a progressive worsening of neurological signs and symptoms, and, ultimately, an unexpected recovery of function following cranioplasty. MAIN OUTCOMES AND RESULTS: In all four cases, we found a deterioration of motor and neuropsychological deficits prior to cranioplasty and a subsequent unexpected improvement in performance on a neuropsychological battery and a series of motor function tests immediately after cranioplasty. CONCLUSIONS: Results give clear evidence that a subset of patients are negatively affected by the persistence of a breach in skull integrity during the rehabilitation phase of brain injury. Moreover, they show that the repair of the cranial defect can trigger relevant neurological improvement in both motor and cognitive domains. This possibility should serve as a reminder to rehabilitation clinicians to give serious consideration to prompt performance of cranioplasty during the time allotted for the rehabilitation of these patients.


Assuntos
Lesões Encefálicas/psicologia , Lesões Encefálicas/cirurgia , Craniectomia Descompressiva , Procedimentos de Cirurgia Plástica , Adulto , Craniectomia Descompressiva/métodos , Craniectomia Descompressiva/psicologia , Craniectomia Descompressiva/reabilitação , Humanos , Hipertensão Intracraniana/etiologia , Hipertensão Intracraniana/cirurgia , Masculino , Procedimentos de Cirurgia Plástica/métodos , Procedimentos de Cirurgia Plástica/psicologia , Procedimentos de Cirurgia Plástica/reabilitação , Estudos Retrospectivos , Resultado do Tratamento
15.
Funct Neurol ; 27(2): 101-6, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23158582

RESUMO

The prognosis of neurogenic orthostatic hypotension (NOH) has been poorly studied. The aim of this study was to evaluate retrospectively comorbidities and causes of death in patients with NOH. Clinical information and causes of death were obtained for 104 patients (45 with multiple system atrophy, 9 with pure autonomic failure, 43 with Parkinson's disease, and 7 with other types of autonomic neuropathy) referred to the Autonomic Unit from 1996 to 2009. Cardiovascular diseases (hypertension, cardiac comorbidities, atrial fibrillation and heart failure) were present in 53 (51%) NOH patients. At the end of follow-up, 44 patients were deceased. Type of NOH was the main factor associated with mortality. The main causes of death were infectious/respiratory (54%) and cardiac (16%). In NOH patients, cardiovascular diseases are frequent, although mortality is mainly due to infectious and respiratory causes. Detection of cardiovascular diseases may be useful in the choice of anti-hypotensive treatments.


Assuntos
Doenças do Sistema Nervoso Autônomo/epidemiologia , Hipotensão Ortostática/epidemiologia , Atrofia de Múltiplos Sistemas/epidemiologia , Doença de Parkinson/epidemiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças do Sistema Nervoso Autônomo/mortalidade , Comorbidade , Feminino , Humanos , Hipotensão Ortostática/mortalidade , Masculino , Pessoa de Meia-Idade , Atrofia de Múltiplos Sistemas/mortalidade , Doença de Parkinson/mortalidade , Prognóstico , Estudos Retrospectivos
16.
Am J Med Genet A ; 155A(11): 2860-4, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21964829

RESUMO

Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy). While there is phenotypic overlap between the various members of each group, the two groups were considered to be totally separate with the former being strictly a structural skeletal condition and the latter group being confined to the peripheral nervous system. We report here on fetal akinesia as the presenting feature of severe metatropic dysplasia, suggesting that certain TRPV4 mutations can cause both a skeletal and a neuropathic phenotype. Three cases were detected on prenatal ultrasound because of absent movements in the second trimester. Case 4 presented with multiple joint contractures and absent limb movements at birth and was diagnosed with "fetal akinesia syndrome". Post-interruption and post-natal X-rays showed typical features of metatropic dysplasia in all four. Sequencing of the TRPV4 gene confirmed the presence of de novo heterozygous mutations predicting G78W (Case 1), T740I (Cases 2 and 3), and K276E (Case 4). Although some degree of restriction of movements is not uncommon in fetuses with skeletal dysplasia, akinesia as leading sign is unusual and suggests that certain TRPV4 mutations produce both chondrodysplasia and a peripheral neuropathy resulting in a severe "overlap" phenotype.


Assuntos
Retardo do Crescimento Fetal/patologia , Atrofia Muscular Espinal/patologia , Osteocondrodisplasias/patologia , Fenótipo , Feminino , Retardo do Crescimento Fetal/diagnóstico , Retardo do Crescimento Fetal/genética , Feto/anormalidades , Feto/patologia , Heterozigoto , Humanos , Lactente , Recém-Nascido , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/genética , Deformidades Congênitas dos Membros/patologia , Masculino , Atrofia Muscular Espinal/diagnóstico , Atrofia Muscular Espinal/genética , Mutação , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Gravidez , Segundo Trimestre da Gravidez , Canais de Cátion TRPV/genética , Ultrassonografia Pré-Natal
17.
J Inherit Metab Dis ; 33 Suppl 3: S91-4, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-20157782

RESUMO

A pilot expanded newborn screening programme to detect inherited metabolic disorders by means of liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) began in the Campania region, southern Italy, in 2007. By October 2009, >8,800 dried blood samples on filter paper from 11 hospitals had been screened. Within this screening programme, we identified a case of mitochondrial acetoacetyl-coenzyme A (CoA) thiolase deficiency [ß-ketothiolase (ß-KT) deficiency] by analysing the acylcarnitine profile from a dried blood spot with LC-MS/MS. Gas chromatography coupled with mass spectrometry analysis of urinary organic acids and LC-MS/MS analysis of urinary acylcarnitines were in line with this disorder. In fact, concentrations were well beyond the cut-off values of tiglyl carnitine, 3-hydroxybutyrylcarnitine and 2-methyl-3-hydroxybutyrylcarnitine, 2-methyl-3-hydroxybutyric acid and tiglyl glycine. The absence of 2-methylacetoacetic acid in urine may be attributed to: (i) the instability of this ß-ketoacid because it undergoes spontaneous decarboxylation to 2-butanone, which is highly volatile and thus difficult to detect, and (ii) the good health of the patient in the first days of life. ß-KT deficiency was subsequently diagnosed in the patient's older sister, who showed increased levels of the same metabolites but also small amounts of 2-methylacetoacetic acid, which is considered a key marker for ß-KT diagnosis. Genomic analysis revealed mutation c.1189C >G in exon 12 of the ACAT1 gene, which results in a severe defect because of the p.H397D amino acid change in both alleles of both patients.


Assuntos
Acetil-CoA C-Aciltransferase/deficiência , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Carnitina/análogos & derivados , Cromatografia Líquida , Teste em Amostras de Sangue Seco , Triagem Neonatal/métodos , Espectrometria de Massas em Tandem , Acetil-CoA C-Acetiltransferase/deficiência , Acetil-CoA C-Acetiltransferase/genética , Acetil-CoA C-Aciltransferase/sangue , Acetil-CoA C-Aciltransferase/genética , Acetil-CoA C-Aciltransferase/urina , Erros Inatos do Metabolismo dos Aminoácidos/sangue , Erros Inatos do Metabolismo dos Aminoácidos/enzimologia , Erros Inatos do Metabolismo dos Aminoácidos/genética , Erros Inatos do Metabolismo dos Aminoácidos/urina , Biomarcadores/sangue , Biomarcadores/urina , Carnitina/sangue , Análise Mutacional de DNA , Predisposição Genética para Doença , Testes Genéticos , Hereditariedade , Humanos , Recém-Nascido , Itália , Mutação , Linhagem , Fenótipo , Valor Preditivo dos Testes
18.
J Hypertens ; 38(2): 289-294, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31568061

RESUMO

OBJECTIVE: Patients with autonomic neuropathy associated with Parkinson's disease often show reverse dipping pattern/nocturnal hypertension at 24-h ambulatory blood pressure (BP) monitoring (24-h ABPM) and diurnal orthostatic hypotension. The aim of the study was to evaluate cardiac alterations in Parkinson's disease patients with reverse dipping, in comparison with non-reverse dippers Parkinson's disease and essential hypertensive patients. METHODS: A total of 26 consecutive Parkinson's disease patients with reverse dipping at 24-h ABPM and no previous history of hypertension were compared with 26 non-reverse Parkinson's disease patients matched for age, sex and 24-h mean BP, and 26 essential hypertensive patients matched for nighttime mean BP. None of the Parkinson's disease patients suffered from cardiovascular diseases or were treated with antihypertensive or antihypotensive drugs. Reverse dipping was defined by a systolic day-night BP difference less than 0% at 24-h ABPM. Left ventricular (LV) hypertrophy was defined by a LV mass index at least 115 g/m in men and at least 95 g/m in women. RESULTS: LV mass, indexed for BSA, was significantly higher in reverse dipping than non-reverse Parkinson's disease patients (respectively 90.2 ±â€Š25.3 vs. 77.4 ±â€Š13.3 g/m, P = 0.04), and was similar to essential hypertensive patients (91.6 ±â€Š24.8, P = 0.92). LV hypertrophy was detected in five reverse dipping Parkinson's disease patients and four hypertensive patients, but was not present in non-reverse Parkinson's disease patients (P = 0.046). Nocturnal BP values, nocturnal BP load, weighted BP variability and age were found to correlate with the increased LV mass index. CONCLUSION: Reverse dipping and nocturnal hypertension are related to higher LV mass and increased prevalence of LV hypertrophy in Parkinson's disease patients.


Assuntos
Pressão Sanguínea/fisiologia , Ritmo Circadiano/fisiologia , Hipertensão/fisiopatologia , Hipertrofia Ventricular Esquerda/fisiopatologia , Doença de Parkinson/fisiopatologia , Idoso , Monitorização Ambulatorial da Pressão Arterial , Feminino , Humanos , Hipertensão/complicações , Hipertrofia Ventricular Esquerda/complicações , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/complicações
19.
Brain Inj ; 23(2): 163-6, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19191095

RESUMO

AIM: Late recovery of consciousness after 12 months in vegetative state is very rare and is almost invariably associated with severe disability. The aim of this study was to report that late recovery with moderate disability is possible, even after several months in vegetative state. CASE REPORT: This study describes the case of a 22-year-old male student who recovered consciousness from vegetative state 19 months after a traumatic brain injury which had occurred in December 2000. A further slow recovery of motor and cognitive functions up to a moderate disability was observed over 7 years after the brain injury. The patient now lives in the community, speaks, walks and undertakes daily living as well as outdoor leisure activities independently, has resumed his previous university studies and has a part-time non-competitive job. CONCLUSIONS: This case demonstrates that attaining a condition of independent living is possible even after more than 1 year of post-traumatic vegetative state, with an improvement of motor and cognitive functions that can continue for years. Cranioplasty and long-term rehabilitation programmes may be among the variables potentially influencing this unexpected recovery.


Assuntos
Estado Vegetativo Persistente/fisiopatologia , Recuperação de Função Fisiológica/fisiologia , Acidentes de Trânsito , Atividades Cotidianas/psicologia , Humanos , Masculino , Estado Vegetativo Persistente/reabilitação , Fatores de Tempo , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Adulto Jovem
20.
Hypertens Res ; 42(10): 1552-1560, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31118487

RESUMO

We sought to test the accuracy of 24-hours ambulatory blood pressure (BP) monitoring (ABPM) for the detection of orthostatic hypotension (OH) in Parkinson's disease (PD). A total of 113 patients referred for autonomic testing between January 2015 and June 2017 underwent ABPM and office BP measurements in supine and standing positions. The study population consisted of 81 males and 32 females with PD duration of 6.5 ± 4.1 years and Hoehn and Yahr staging of 1 (13.3%), 1.5 (20.4%), 2 (27.4%), 2.5 (23.9%), 3 (13.3%), and 4 (1.8%). Motor fluctuations were present in 44% of patients. The data from office BP recordings were compared to selected ABPM parameters, and the results showed an association between OH and (a) ABPM-detected hypotensive episodes (Hypo-ep) and (b) ABPM-detected awakening hypotension (Hypo-aw). Having 2 or more Hypo-ep episodes ≤15 mmHg (systolic) compared to average 24-h systolic BP [Formula: see text] yielded 75% diagnostic accuracy for OH, while the presence of at least one [Formula: see text] within 90 min after getting up [Formula: see text] yielded 93% specificity for OH. A diagnostic accuracy of 87.6% was achieved when including daytime and nighttime ABPM values, weighted BP variability, systolic and diastolic BP loads, nocturnal dipping, and postprandial hypotension in a computerized prediction algorithm. In conclusion, our findings suggest that selected ABPM parameters, such as the number of hypotensive episodes and the presence of awakening hypotension, may be used to screen patients for OH, while using a computerized prediction algorithm that includes all ABPM parameters provides the greatest diagnostic accuracy.


Assuntos
Monitorização Ambulatorial da Pressão Arterial , Hipotensão Ortostática/diagnóstico , Doença de Parkinson/complicações , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/fisiopatologia
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