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1.
Rev Neurol ; 79(3): 95-97, 2024 Aug 01.
Artigo em Espanhol | MEDLINE | ID: mdl-39007861

RESUMO

INTRODUCTION: X-linked intellectual developmental disorder is clinically and genetically heterogeneous. The ubiquitin specific peptidase 27 X-linked gene (USP27X) has been associated with X-linked intellectual developmental disorder, and only 17 affected males have been described in the literature to date. CASE REPORT: A 6-year-old boy was assessed due to intellectual developmental disability, language delay, behavioural disorder, microcephaly and particular features. His mother had learning difficulties and a facial phenotypic overlap. A maternal uncle had an intellectual developmental disorder. Physical examination revealed an unusual phenotype (triangular facies, long palpebral fissures and eyelashes, medially eyebrow loss, prominent auricles), mild brachydactylia and hypoplasia in the distal phalanges. The clinical exome identified the probably pathogenic variant NM_001145073.3: c.692delT in the USP27X gene. The results of the family segregation analysis were positive: the mother and maternal uncle were harbourers, while healthy maternal aunt was not. CONCLUSIONS: We present two new cases of X-linked intellectual developmental disorder due to a previously unreported variant in the USP27X gene. Both patients presented neurological symptoms without any significant involvement at other levels, according to the literature. One of the cases presented microcephaly, particular features and digital anomalies, which broadens the phenotypic spectrum of this disease.


TITLE: Dos nuevos casos de discapacidad intelectual ligada al cromosoma X tipo 105 por variante patógena en el gen USP27X no descrita previamente.Introducción. La discapacidad intelectual ligada al cromosoma X es un trastorno clínica y genéticamente heterogéneo. El gen de la proteasa 27 específica de la ubiquitina ligada al cromosoma X (USP27X) se ha asociado a discapacidad intelectual ligada al cromosoma X, y en la actualidad sólo se ha descrito a 17 varones afectos en la bibliografía. Caso clínico. Niño de 6 años valorado por discapacidad intelectual, retraso del lenguaje, trastorno de la conducta, microcefalia y rasgos particulares. Madre con dificultades de aprendizaje y fenotipo facial solapante. Un tío materno con discapacidad intelectual aislada. En la exploración física destaca un fenotipo peculiar (facies triangular, fisuras palpebrales y pestañas largas, cejas menos pobladas medialmente, pabellones auriculares prominentes), leve braquidactilia e hipoplasia de falanges distales. El exoma clínico identificó la variante probablemente patógena NM_001145073.3: c.692delT en el gen USP27X. El estudio de segregación familiar fue positivo: madre y tío materno portadores, tía materna sana no portadora. Conclusiones. Describimos dos nuevos casos con discapacidad intelectual ligada al cromosoma X por variante no descrita previamente en el gen USP27X. Ambos pacientes presentan clínica neurológica sin afectación significativa a otros niveles de acuerdo con la bibliografía. Uno de los casos asocia microcefalia, rasgos particulares y anomalías digitales, lo que permite ampliar el espectro fenotípico de esta enfermedad.


Assuntos
Deficiência Intelectual , Humanos , Masculino , Criança , Deficiência Intelectual/genética , Proteases Específicas de Ubiquitina/genética , Deficiência Intelectual Ligada ao Cromossomo X/genética , Linhagem , Doenças Genéticas Ligadas ao Cromossomo X/genética
2.
Catheter Cardiovasc Interv ; 102(2): 233-240, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37300893

RESUMO

OBJECTIVE: To assess the efficiency of Dyevert™ Power XT compared to the standard clinical practice when used for percutaneous coronary interventions (PCI). METHODS: A Markov model was developed to estimate, over 3-month cycles and a lifetime time horizon, the cumulative costs and health outcomes (life years gained [LYG] and quality-adjusted life years [QALY]) in a hypothetical cohort of 1,000 patients with chronic kidney disease (CKD) 3b-4 and an average age of 72 years. The incidence of contrast-induced acute kidney injury for these patients is 18.89% in routine practice and 7.78% with Dyevert. QALYs were estimated by applying utilities by health state. Transitions between states and utilities were obtained from the literature. Overall all-cause and state-specific mortality were considered. The total cost (€2,022) estimated with the National Health System perspective included cost of the procedure and of CKD management. The parameters were validated by a panel of experts. A discount rate (3% per year) was applied to costs and outcomes. RESULTS: The use of Dyevert yielded more health benefits (34.60 LYG and 5.69 QALYs) compared to the current standard practice (33.11 LYG and 5.38 QALYs). Lifetime cost accumulated at the end of the simulation resulted €30,211/patient with Dyevert and €33,895/patient with current standard clinical practice. CONCLUSIONS: The use of Dyevert™ Power XT resulted dominant option, due to its higher effectiveness and lower cost as compared to standard clinical practice and, therefore, a preferred option in patients with CKD stages 3b-4 undergoing PCI in Spain.


Assuntos
Intervenção Coronária Percutânea , Insuficiência Renal Crônica , Humanos , Idoso , Análise de Custo-Efetividade , Espanha/epidemiologia , Análise Custo-Benefício , Resultado do Tratamento , Insuficiência Renal Crônica/diagnóstico , Insuficiência Renal Crônica/epidemiologia , Insuficiência Renal Crônica/terapia , Anos de Vida Ajustados por Qualidade de Vida
3.
Actual. anestesiol. reanim ; 70(4): 187-197, Abr. 2023. ilus, tab, graf
Artigo em Espanhol | IBECS | ID: ibc-218270

RESUMO

Introducción: La administración intravenosa de fluidos constituye un elemento fundamental en la reanimación de pacientes con hipovolemia. Las guías clínicas restringen el uso de coloides en favor de los cristaloides. Actualmente, no conocemos con exactitud cuál es la práctica clínica habitual al respecto durante el periodo perioperatorio. El objetivo del presente estudio es describir el uso perioperatorio de coloides y analizar las posibles causas que motivan su utilización. Material y métodos: Estudio observacional, transversal, multicéntrico. Subanálisis del estudio Fluid Day. Se incluyeron todos los pacientes mayores de 18 años sometidos a cirugía durante las 24h de los 2 días del estudio (18 y 20 de febrero de 2019). Se registraron datos demográficos, comorbilidades, datos referentes al acto anestésico y el procedimiento quirúrgico, fluidos administrados, sangrado perioperatorio y tipo de monitorización utilizado durante el periodo perioperatorio. Resultados: Se analizaron 5.928 casos. Un total de 542 pacientes (9,1%) recibieron algún tipo de coloides, siendo el hidroxietilalmidón el más utilizado (5,1%). Los pacientes que recibieron coloides tuvieron intervenciones más prolongadas (150 [90-255] vs. 75 [45-120] min), fueron intervenidos de urgencia (13,7 vs. 7,5%) y se clasificaron como de alto riesgo (22 vs. 4,8%) más frecuentemente. Su recuperación inmediata mayoritariamente transcurrió en unidades de críticos (45,1 vs.15,8%). Los pacientes que presentaron una hemorragia menor de 500ml recibieron coloides en un 5,9% frente al 45,9% cuando se superó esta cifra. Los pacientes que recibieron coloides presentaban anemia más frecuentemente: 29,4 vs. 16,3%. La administración de coloides supuso un mayor riesgo de transfusión (OR 15,7). La monitorización avanzada también aumentó la probabilidad de administrar coloides (OR 9,43). Conclusiones: En nuestro medio y en condiciones de práctica clínica habitual, la utilización de los coloides es escasa...(AU)


Introduction: Fluid administration is the cornerstone in hypovolemic patient's reanimation. Clinical guidelines restrict colloid administration favouring crystalloids. Currently, we don’t know exactly which is the daily clinical practice during the perioperative period. The objective of this study is to describe perioperative use of colloids analysing possible reasons aiming to use them. Material and Methods: Prospective, cross-section, national, multicentre observational study. Fluid Day sub-study. We enrolled all patient's older than 18 years old who underwent surgery during the 24h of the 2-days study (February, 2019, 18th and 20th). We registered demographic data, comorbidities, anaesthetic and surgical procedure data, fluids administered, perioperative bleeding and monitoring type used during the perioperative period. Results: A total of 5928 cases were analysed and 542 patients (9.1%) received any type of colloids, being hydroxiethyl-starch the most frequently used (5.1%). Patients receiving colloids suffered more longing surgery (150 [90-255] vs. 75 [45-120] min), were urgently operated (13.7 vs. 7.5%) and were more frequent classified as high risk (22 vs. 4.8%). Their recovery was mostly in critical care units (45.1 vs.15.8%). Patients with bleeding less than 500mL received colloids in a percentage of 5.9 versus 45.9% when this figure was overcome. Patients who received colloids were anaemic more frequently: 29.4 vs. 16.3%. Colloids administration had a higher risk for transfusion (OR 15.7). Advanced monitoring also increased the risk for receiving colloids (OR 9.43). Conclusions: In our environment with routine clinical practice, colloids administration is limited and close linked to perioperative bleeding.(AU)


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Coloides , Período Perioperatório , Administração Intravenosa , Hipovolemia , Hidratação , Estudos Transversais , Reanimação Cardiopulmonar , Anestesiologia
4.
Rev Esp Anestesiol Reanim (Engl Ed) ; 70(4): 187-197, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36858277

RESUMO

INTRODUCTION: Fluid administration is the cornerstone in hypovolemic patient's reanimation. Clinical guidelines restrict colloid administration favouring crystalloids. Currently, we don't know exactly which is the daily clinical practice during the perioperative period. The objective of this study is to describe perioperative use of colloids analysing possible reasons aiming to use them. MATERIAL AND METHODS: Prospective, cross-section, national, multicentre observational study. Fluid Day sub-study. We enrolled all patient's older than 18 years old who underwent surgery during the 24 h of the 2-days study (February, 2019, 18th and 20th). We registered demographic data, comorbidities, anaesthetic and surgical procedure data, fluids administered, perioperative bleeding and monitoring type used during the perioperative period. RESULTS: A total of 5928 cases were analysed and 542 patients (9.1%) received any type of colloids, being hydroxiethyl-starch the most frequently used (5.1%). Patients receiving colloids suffered more longing surgery (150 [90-255] vs. 75 [45-120] min), were urgently operated (13.7 vs. 7.5%) and were more frequent classified as high risk (22 vs. 4.8%). Their recovery was mostly in critical care units (45.1 vs.15.8%). Patients with bleeding less than 500 ml received colloids in a percentage of 5.9 versus 45.9% when this figure was overcome. Patients who received colloids were anaemic more frequently: 29.4 vs. 16.3%. Colloids administration had a higher risk for transfusion (OR 15.7). Advanced monitoring also increased the risk for receiving colloids (OR 9.43). CONCLUSIONS: In our environment with routine clinical practice, colloids administration is limited and close linked to perioperative bleeding.


Assuntos
Hidratação , Substitutos do Plasma , Humanos , Adolescente , Substitutos do Plasma/uso terapêutico , Soluções Isotônicas/uso terapêutico , Hidratação/métodos , Estudos Prospectivos , Coloides
5.
Hipertens. riesgo vasc ; 38(4): 201-205, oct.-dic. 2021. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-221321

RESUMO

La hipertensión arterial maligna se define por cifras extremadamente altas de presión arterial asociadas a daño orgánico. Constituye una causa de emergencia hipertensiva donde coexisten cifras elevadas de presión arterial, con hemorragia y exudados bilaterales retinianas (retinopatía hipertensiva grado III), con o sin papiledema (retinopatía hipertensiva grado IV), asociada usualmente a lesión renal o cardíaca. En un 1% de los casos es secundaria a causas endocrinológicas, entre ellas, la más frecuente: el feocromocitoma, que clásicamente se ha caracterizado por la tríada cefalea, sudoración y palpitaciones. Sin embargo, no existe un hallazgo clínico único que tenga un valor significativo en su diagnóstico. A continuación, presentamos el caso de una paciente de 23 años con emergencia hipertensiva y masa suprarrenal asociado a retinopatía hipertensiva grado IV. (AU)


Malignant arterial hypertension is defined by extremely high levels of pressure associated with organ damage. It is a cause of hypertensive emergency and is defined by the coexistence of high blood pressure and bilateral retinal haemorrhage or exudates (grade III hypertensive retinopathy), with or without papilloedema (grade IV hypertensive retinopathy) currently associated with organ damage such as renal or cardiac failure. Around 1% of malignant arterial hypertension is secondary to endocrinological causes, including the most common: pheochromocytoma, which is classically characterized by the triad: headache, sweating and palpitations. However, there is no single clinical finding that is of significant value in its diagnosis. We now present the case of a 23-year-old patient with a hypertensive emergency, an adrenal mass associated with grade IV hypertensive retinopathy. (AU)


Assuntos
Humanos , Feminino , Adulto Jovem , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Hipertensão Maligna/etiologia , Feocromocitoma/complicações , Feocromocitoma/diagnóstico por imagem , Retinopatia Hipertensiva
7.
Hipertens. riesgo vasc ; 38(3): 125-132, jul.-sep. 2021. ilus
Artigo em Espanhol | IBECS | ID: ibc-221308

RESUMO

El sistema renina-angiotensina-aldosterona (SRAA) y sus efectos en el flujo sanguíneo e hidrosalino han sido estudiados a nivel cardiovascular y renal. La activación del SRAA en otros órganos tiene efectos tanto locales como sistémicos, alterando la macro y microvascultura de los órganos periféricos. En el cerebro, el SRAA regula la presión arterial (PA) a través del sistema nervioso simpático. El eje enzima convertidora de angiotensina/angiotensina II/receptor de angiotensina 1 (ECA/Ang II/AT1), vía clásica, y enzima convertidora de angiotensina tipo 2/angiotensina (1-7)/receptor Mas (ECA2/Ang [1-7]/MasR), vía no clásica, modulan la respuesta simpática. Su descompensación y acumulación de Ang II propician la hipertensión neurogénica (HTN) y otras patologías vasculares. El eje aminopeptidasa/angiotensina IV/receptor de angiotensina 4 (AMN/Ang IV/AT4), exclusivo del cerebro, condiciona la microvasculatura cerebral e interviene en la cognición, la memoria y el aprendizaje. Esta revisión propone descifrar los mecanismos de regulación de la PA por el SRAA central, así como revisar sus funciones y su contribución en la neuroprotección y la cognición. (AU)


The renin-angiotensin-aldosterone (RAAS) system and its effects on blood pressure and the regulation of water and electrolyte balance have been studied focusing on the cardiovascular and renal system. The activation of RAAS in other organs has local and systemic repercussions by modeling the macro- and microvasculture of peripheral organs. The brain RAAS influence on systemic blood pressure through the sympathetic nervous system. The angiotensin converting enzyme/angiotensin II/angiotensin 1 receptor axis (ACE/AngII/AT1), classical pathway, and angiotensin converting enzyme type 2/angiotensin (1-7)/Mas receptor (ACE2/Ang (1-7)/MasR), non-classical pathway, are involved in the modulation of the sympathetic response. The imbalance of these two axes with subsequently Ang II accumulation promote neurogenic hypertension and other vascular pathologies. The aminopeptidase/angiotensin IV/angiotensin 4 receptor (AMN/Ang IV/AT4) axis, which is exclusive of the brain, acts on cerebral microvasculature and participates in cognition, memory, and learning. The aim of this review is to decipher the major central RAAS mechanisms involved in blood pressure regulation. In addition, paracrine functions of brain RAAS and its role in neuroprotection and cognition are also described in this review. (AU)


Assuntos
Humanos , Hipertensão , Sistema Renina-Angiotensina , Cérebro/fisiologia , Cérebro/metabolismo , Pressão Arterial
8.
Hipertens Riesgo Vasc ; 38(4): 201-205, 2021.
Artigo em Espanhol | MEDLINE | ID: mdl-34238673

RESUMO

Malignant arterial hypertension is defined by extremely high levels of pressure associated with organ damage. It is a cause of hypertensive emergency and is defined by the coexistence of high blood pressure and bilateral retinal haemorrhage or exudates (grade III hypertensive retinopathy), with or without papilloedema (grade IV hypertensive retinopathy) currently associated with organ damage such as renal or cardiac failure. Around 1% of malignant arterial hypertension is secondary to endocrinological causes, including the most common: pheochromocytoma, which is classically characterized by the triad: headache, sweating and palpitations. However, there is no single clinical finding that is of significant value in its diagnosis. We now present the case of a 23-year-old patient with a hypertensive emergency, an adrenal mass associated with grade IV hypertensive retinopathy.


Assuntos
Neoplasias das Glândulas Suprarrenais , Hipertensão Maligna , Feocromocitoma , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Humanos , Hipertensão Maligna/etiologia , Retinopatia Hipertensiva , Feocromocitoma/complicações , Feocromocitoma/diagnóstico por imagem , Adulto Jovem
10.
Hipertens Riesgo Vasc ; 38(3): 125-132, 2021.
Artigo em Espanhol | MEDLINE | ID: mdl-33526381

RESUMO

The renin-angiotensin-aldosterone (RAAS) system and its effects on blood pressure and the regulation of water and electrolyte balance have been studied focusing on the cardiovascular and renal system. The activation of RAAS in other organs has local and systemic repercussions by modeling the macro- and microvasculture of peripheral organs. The brain RAAS influence on systemic blood pressure through the sympathetic nervous system. The angiotensin converting enzyme/angiotensin II/angiotensin 1 receptor axis (ACE/AngII/AT1), classical pathway, and angiotensin converting enzyme type 2/angiotensin (1-7)/Mas receptor (ACE2/Ang (1-7)/MasR), non-classical pathway, are involved in the modulation of the sympathetic response. The imbalance of these two axes with subsequently Ang II accumulation promote neurogenic hypertension and other vascular pathologies. The aminopeptidase/angiotensin IV/angiotensin 4 receptor (AMN/Ang IV/AT4) axis, which is exclusive of the brain, acts on cerebral microvasculature and participates in cognition, memory, and learning. The aim of this review is to decipher the major central RAAS mechanisms involved in blood pressure regulation. In addition, paracrine functions of brain RAAS and its role in neuroprotection and cognition are also described in this review.


Assuntos
Encéfalo/fisiologia , Hipertensão , Sistema Renina-Angiotensina , Pressão Sanguínea , Encéfalo/metabolismo , Humanos , Peptidil Dipeptidase A
12.
Rev Esp Anestesiol Reanim (Engl Ed) ; 68(2): 114-116, 2021 Feb.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-33371977
13.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-31031044

RESUMO

Haemorrhagic shock is one of the main causes of mortality in severe polytrauma patients. To increase the survival rates, a combined strategy of treatment known as Damage Control has been developed. The aims of this article are to analyse the actual concept of Damage Control Resuscitation and its three treatment levels, describe the best transfusion strategy, and approach the acute coagulopathy of the traumatic patient as an entity. The potential changes of this therapeutic strategy over the coming years are also described.


Assuntos
Transtornos da Coagulação Sanguínea/prevenção & controle , Transfusão de Sangue/métodos , Traumatismo Múltiplo/complicações , Ressuscitação/métodos , Choque Hemorrágico/terapia , Acidose/terapia , Antifibrinolíticos/uso terapêutico , Substitutos Sanguíneos/efeitos adversos , Substitutos Sanguíneos/uso terapêutico , Protocolos Clínicos , Fibrinólise/efeitos dos fármacos , Fibrinólise/fisiologia , Hidratação/métodos , Hidratação/mortalidade , Hemorragia/mortalidade , Hemorragia/terapia , Humanos , Hipocalcemia/terapia , Hipotensão/terapia , Hipotensão Controlada/métodos , Traumatismo Múltiplo/sangue , Traumatismo Múltiplo/mortalidade , Consumo de Oxigênio , Choque Hemorrágico/etiologia , Ácido Tranexâmico/uso terapêutico
14.
Curr Med Chem ; 24(30): 3231-3241, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28413960

RESUMO

Angiotensin converting enzyme (ACE) 2 is a homologue of ACE that catalyzes the conversion of Angiotensin (Ang) II into Ang1-7, which induces vasodilation, anti-fibrotic, anti-proliferative and anti-inflammatory effects. Given that ACE2 counterbalances the effects of Ang II, it has been proposed as a biomarker in kidney disease patients. Circulating ACE2 has been studied in human and experimental studies under physiological and pathological conditions and different techniques have been assessed to determine its enzymatic activity. In patients with cardiovascular (CV) disease circulating ACE2 has been shown to be increased. In addition, hypertensive and diabetic patients have also shown higher circulating ACE2 activities. A study in type 1 diabetes patients found a negative association between circulating ACE2 and estimated glomerular filtration rate in male and female patients. Recently, it has been demonstrated that circulating ACE2 is increased in male patients with chronic kidney disease (CKD) and that it is independently associated with other classical CV risk factors, such as advanced age and diabetes. Furthermore, circulating ACE2 has been shown to be associated with silent atherosclerosis and CV outcomes in CKD patients. In diabetic nephropathy, experimental studies have demonstrated an increase in circulating ACE2 activity both at early and late stages of the disease, as well as a direct association with increased urinary albumin excretion, suggesting that it may be increased as a renoprotective mechanism in these patients. In this paper we will review the measurement of circulating ACE2 and its role in kidney disease, as well as its potential role as a renal and CV biomarker.


Assuntos
Doenças Cardiovasculares/sangue , Nefropatias/sangue , Peptidil Dipeptidase A/sangue , Enzima de Conversão de Angiotensina 2 , Animais , Biomarcadores/sangue , Humanos
16.
QJM ; 107(11): 879-86, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24854177

RESUMO

BACKGROUND: Some studies postulate that early dialysis initiation may increase mortality. AIM: The aim of the present study was to assess to what extent this was due to confounding by age. DESIGN: Observational retrospective cohort study. METHODS: We studied all patients starting dialysis therapy between 1 January 1995 and 31 December 2009 in our center. The following variables at dialysis initiation in end-stage renal disease (ESRD) patients were analysed: estimated glomerular filtration rate (eGFR), age, gender, diabetes mellitus, serum albumin, hemoglobin, period of dialysis initiation, history of ischemic heart disease and stroke. Multivariate Cox model was used to calculate adjusted patient survival. RESULTS: Over the last 15 years, 428 patients initiated dialysis therapy in our reference area. Median eGFR at dialysis initiation was 8.16 ml/min. In the univariate analysis, increased eGFR, age, dialysis initiation 1995-1999/2000-2004, diabetes and history of ischemic heart disease were associated (P < 0.05) with increased mortality in ESRD. Patients that started dialysis program with eGFR > 8.16 were older than those who did it with eGFR < 8.16 (66 vs. 61 years, P < 0.001). The association between mortality and eGFR in the crude multivarite Cox model was lost when the model was adjusted by age. In the multivariate Cox model, dialysis initiation period, serum albumin and history of ischemic heart disease were associated with mortality. CONCLUSION: History of ischemic heart disease, serum albumin and dialysis start before 2005 were risk factors for mortality in ESRD patients. Older age is usually associated with early dialysis initiation, so age adjustment is needed to perform studies aimed to calculate the effect of eGFR at dialysis initiation on survival.


Assuntos
Falência Renal Crônica/terapia , Diálise Renal/mortalidade , Fatores Etários , Idoso , Métodos Epidemiológicos , Feminino , Taxa de Filtração Glomerular/fisiologia , Humanos , Falência Renal Crônica/mortalidade , Falência Renal Crônica/fisiopatologia , Masculino
17.
J Hum Hypertens ; 22(3): 183-90, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-17992252

RESUMO

Circulating endothelial progenitor cells (EPCs) play a key role in the maintenance of endothelial homoeostasis and promote vascular repair. They may also be of predictive value for cardiovascular events. Reduced EPC number and functional activity have been associated with several cardiovascular risk factors, but their relationship with hypertension remains unclear. The objective of this study was to investigate if number and function of circulating EPCs are reduced in patients with refractory hypertension (RHT). Circulating EPCs (CD34+ CD133+/CD45+) were isolated from peripheral blood by flow cytometry in 39 RHT and 30 normotensive controls. EPC number was also determined in vitro after 7 days in culture. After age adjustment, EPC concentration was significantly reduced in RHT as compared with controls (mean (95% CI), 33.8 (18.1-49.6) vs 69.1 (50.7-87.5) EPCs per 10(5) peripheral mononuclear cells (MNCs), respectively; P=0.014). After in vitro culture, EPCs were also reduced in patients as compared with controls (mean (95% CI), 142.3 (49.5-235.0) vs 611.0 (480.2-741.8) EPCs per field, respectively, P<0.001). In multiple linear regression analysis, circulating EPCs were significantly reduced by 56.3% in RHT as compared with control (P=0.006), independently of all other known risk factors. Moreover, RHT had a high independent predictive value for lower EPC proliferation. The number of EPCs per field was reduced by 76.7% in RHT with respect to controls (P<0.001). In summary, the number of circulating EPCs after culture is reduced in patients with RHT, which may be related to the increased rate of endothelial dysfunction, atherosclerotic disease and cardiovascular events observed in this population.


Assuntos
Células Endoteliais/citologia , Hipertensão/sangue , Células-Tronco/citologia , Adulto , Doenças Cardiovasculares/sangue , Estudos de Casos e Controles , Células Cultivadas , Distribuição de Qui-Quadrado , Regulação para Baixo , Endotélio Vascular/citologia , Feminino , Citometria de Fluxo , Humanos , Masculino , Pessoa de Meia-Idade , Análise de Regressão , Fatores de Risco
18.
Kidney Int ; 72(5): 614-23, 2007 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-17579661

RESUMO

Angiotensin converting enzyme 2 (ACE2) is localized to the glomerular epithelial cells. Since ACE2 promotes the degradation of angiotensin II, a decrease in ACE2 activity could lead to the development of glomerular injury. We gave a specific ACE2 inhibitor, MLN-4760, for 4 weeks to mice rendered diabetic with streptozotocin. The urinary albumin/creatinine ratio was increased along with expansion of the glomerular matrix in diabetic mice treated with the inhibitor compared to the vehicle-treated mice. Glomerular staining of ACE was increased in the diabetic group and was further significantly increased in the diabetic group treated with MLN-4760. In renal vessels, ACE expression was also increased in the diabetic mice and, again, further increased in those diabetic mice treated with the ACE2 inhibitor. Our study shows that chronic pharmacologic ACE2 inhibition worsens glomerular injury in streptozotocin-induced diabetic mice in association with increased ACE expression.


Assuntos
Inibidores da Enzima Conversora de Angiotensina/farmacologia , Diabetes Mellitus Experimental/complicações , Nefropatias Diabéticas/etiologia , Glomérulos Renais/patologia , Peptidil Dipeptidase A , Angiotensina II , Enzima de Conversão de Angiotensina 2 , Animais , Nefropatias Diabéticas/patologia , Imidazóis/farmacologia , Leucina/análogos & derivados , Leucina/farmacologia , Camundongos , Peptidil Dipeptidase A/genética , Estreptozocina , Regulação para Cima/genética
19.
Transplant Proc ; 37(9): 3705-9, 2005 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-16386512

RESUMO

BACKGROUND: IgA nephropathy (IgA) is one of the most common glomerulonephritis. Renal transplantation is the treatment of choice for patients with ESRD due to any kind of glomerulopathy, including IgA and Henoch-Schönlein purpura nephritis (H-SP), but original disease recurrence is now the third most frequent cause of allograft loss. METHODS: Eighty-seven cases of glomerulonephritis as the original disease were divided in two groups: group A--37 affected with 31 IgA and 6 H-SP; and group B--50 with other glomerulopathies. We compared patient and graft survivals at 5 years. To assess the presence of IgA or H-SP recurrence in group A patients, we performed an allograft biopsy in the presence of microhematuria, proteinuria, or an increased plasma creatinine. Known risk factors influencing recurrence rate were also analyzed. RESULTS: Five-year patient (97% vs 95%) and graft survivals (81% vs 78%) were not significantly different between groups A and B. Patients with crescentic glomerulonephritis (CGN) at the moment of diagnosis of IgA or H-SP showed a 5-year graft survival of 71% in contrast with 100% graft survival among those with mesangial or focal and segmental glomerulosclerosis pattern (P = .03). Histological recurrence was diagnosed in eight patients: six IgA and two H-SP. Women (P = .013) and a good HLA match (P = .029) were significantly associated with the risk of recurrence. CONCLUSIONS: When compared with other glomerulonephritis patients, with IgA or S-HP showed similar 5-year graft and patient survivals. Nevertheless, graft survival was shorter among patients with crescentic glomerulonephritis at the moment of diagnosis. Thus, the disease prognosis after grafting may be linked to the initial histological aggressiveness. Women and those patients transplanted with a good HLA match were prone to develop disease recurrence with a tendency toward a lower 5-year graft survival.


Assuntos
Glomerulonefrite por IGA/diagnóstico , Vasculite por IgA/diagnóstico , Transplante de Rim/efeitos adversos , Adulto , Cadáver , Feminino , Seguimentos , Sobrevivência de Enxerto , Humanos , Transplante de Rim/mortalidade , Transplante de Rim/fisiologia , Doadores Vivos , Masculino , Recidiva , Estudos Retrospectivos , Análise de Sobrevida , Fatores de Tempo , Doadores de Tecidos
20.
Nefrologia ; 24 Suppl 3: 81-4, 2004.
Artigo em Espanhol | MEDLINE | ID: mdl-15219076

RESUMO

Hypertensive crises are situations when arterial hypertension shows its immediate damaging potential, and in such circumstance, antihypertensive therapy provides its life-saving effectiveness. Among these situations are hypertensive emergencies, hypertensive urgencies, hypertensive encephalopathy, and also accelerated-malignant hypertension characterised by the presence of grade 3 or grade 4 Keith-Wagener retinopathy and numerous complications (acute renal failure, heart failure, haemorrhagic brain stroke or acute coronary events). Despite of antihypertensive therapy, the mortality rate of accelerated-malignant hypertension is about 25% after the 5th year. We present the case of a thirty-three years old male, with a five-year history of non-treated hypertension, who develops accelerated- hypertension with heart failure, microangiopathic haemolytic anaemia and renal failure that requires renal replacement therapy. After a strict control of blood pressure; initially using parenteral agents such as Solinitrin and Urapidil, followed by angiotensin-converting enzyme inhibitors, angiotensin II receptor blockers, beta-adrenergic receptor blockers, calcium channel blockers and Hydralazine, the patient partially recovers his renal function, resulting in the withdrawal of haemodialysis.


Assuntos
Injúria Renal Aguda/etiologia , Anti-Hipertensivos/uso terapêutico , Hipertensão Maligna/complicações , Injúria Renal Aguda/terapia , Adulto , Anemia Hemolítica/etiologia , Quimioterapia Combinada , Insuficiência Cardíaca/etiologia , Hematúria/etiologia , Humanos , Hiperlipidemias/complicações , Hipertensão Maligna/tratamento farmacológico , Hiperuricemia/complicações , Masculino , Obesidade/complicações , Papiledema/etiologia , Recidiva , Diálise Renal , Hemorragia Retiniana/etiologia , Recusa do Paciente ao Tratamento
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