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1.
Rev. clín. esp. (Ed. impr.) ; 223(9): 569-577, nov. 2023. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-226823

RESUMO

Introducción La enfermedad vascular es la causa más frecuente de morbimortalidad, y su prevalencia incrementa con la edad. Los pacientes muy añosos no se encuentran incluidos en los estudios sobre enfermedad vascular, desconociéndose sus características y tratamientos. Objetivo Conocer las características clínicas de los pacientes nonagenarios hospitalizados en servicios de medicina interna con diagnóstico de EV establecida y la adecuación de su manejo farmacológico. Material y métodos El Registro NONAVASC-2 es un estudio observacional, prospectivo y multicéntrico. Se incluyeron pacientes hospitalizados por cualquier causa. La recogida de datos se realizó a través de una base anonimizada online con parámetros sociodemográficos, clínicos, analíticos, terapéuticos y evolutivos. Resultados Se incluyeron 1.049 pacientes con una edad media de 93,14 años (57,8% mujeres). La prevalencia de los factores de riesgo fue muy elevada: hipertensión (84,9%), dislipemia (50,9%) y diabetes mellitus (29,4%). El 33,4% presentaba dependencia grave/total. El 82,9% recibía tratamiento antitrombótico (53,7% antiagregantes, 25,4% anticoagulación y 3,8% doble terapia). Solo el 38,2% recibía estatinas. El porcentaje de dependencia (39,2 vs. 24,1%; p=0,00) y deterioro cognitivo grave (30,8 vs. 13,8%; p=0,00) era significativamente mayor entre los pacientes que no las recibían. El 19% falleció durante el ingreso. Conclusión Los pacientes nonagenarios con EV presentan una elevada comorbilidad, dependencia y mortalidad. A pesar de estar en prevención secundaria, el 17% de ellos no recibía antitrombóticos y solo el 38% estatinas. Esta infraprescripción está condicionada por la situación funcional, entre otros factores, por lo que es necesario realizar más estudios para conocer el impacto sobre su pronóstico (AU)


Introduction Vascular disease is the most frequent cause of morbidity and mortality and its prevalence increases with age. Old patients are not included in studies on vascular disease, their characteristics and treatments being unknown. Objective Know the clinical characteristics of nonagenarian patients hospitalized in Internal Medicine services with a diagnosis of established VD and the adequacy of their pharmacological management. Material and methods The NONAVASC-2 registry is an observational, prospective, multicentre study. Hospitalized patients for any cause were included. Data collection was carried out through an anonymous online database with sociodemographic, clinical, analytical, therapeutic and evolutionary parameters. Results One thousand forty-nine patients with a mean age of 93.14 years (57.8% women) were included. The prevalence of risk factors and VD was high: hypertension (84.9%), dyslipidemia (50.9%) and diabetes mellitus (29.4%). 33.4% presented severe-total dependency. 82.9% received antithrombotic treatment (53.7% antiplatelets, 25.4% anticoagulation and 3.8% double therapy). Only 38.2% received statins. The percentage of severe dependence (39.2% vs 24.1%; p=0.00) and severe cognitive impairment (30.8% vs 13.8%; p=0.00) was significantly higher among patients who did not receive them. 19% died during admission. Conclusions Nonagenarian patients with VD present high comorbidity, dependence and mortality. Despite being in secondary prevention, 17% did not receive antithrombotics and only 38% received statins. The underprescription is conditioned, among other factors, by the functional status. More studies are necessary to determine the impact of this issue on their prognosis (AU)


Assuntos
Humanos , Masculino , Feminino , Idoso de 80 Anos ou mais , Idoso de 80 Anos ou mais , Doenças Vasculares/etiologia , Estudos Prospectivos , Fatores de Risco , Prevalência
2.
Rev Clin Esp (Barc) ; 223(9): 569-577, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37717922

RESUMO

INTRODUCTION: Vascular disease (VD) is the most frequent cause of morbidity and mortality and its prevalence increases with age. Old patients are not included in studies on VD, their characteristics and treatments being unknown. OBJECTIVE: Know the clinical characteristics of nonagenarian patients hospitalized in Internal Medicine services with a diagnosis of established VD and the adequacy of their pharmacological management. MATERIAL AND METHODS: The NONAVASC-2 registry is an observational, prospective, multicentre study. Hospitalized patients for any cause were included. Data collection was carried out through an anonymous online database with sociodemographic, clinical, analytical, therapeutic and evolutionary parameters. RESULTS: One thousand forty-nine patients with a mean age of 93.14 years (57.8% women) were included. The prevalence of risk factors and VD was high: hypertension (84.9%), dyslipidemia (50.9%) and diabetes mellitus (29.4%). 33.4% presented severe-total dependency. 82.9% received antithrombotic treatment (53.7% antiplatelets, 25.4% anticoagulation and 3.8% double therapy). Only 38.2% received statins. The percentage of severe dependence (39.2% vs 24.1%; p = 0.00) and severe cognitive impairment (30.8% vs 13.8%; p = 0.00) was significantly higher among patients who did not receive them. 19% died during admission. CONCLUSIONS: Nonagenarian patients with VD present high comorbidity, dependence and mortality. Despite being in secondary prevention, 17% did not receive antithrombotics and only 38% received statins. The underprescription is conditioned, among other factors, by the functional status. More studies are necessary to determine the impact of this issue on their prognosis.


Assuntos
Inibidores de Hidroximetilglutaril-CoA Redutases , Doenças Vasculares , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Hospitalização , Nonagenários , Estudos Prospectivos , Sistema de Registros , Doenças Vasculares/epidemiologia , Doenças Vasculares/terapia
3.
Int J Gynaecol Obstet ; 162(3): 1077-1085, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37177815

RESUMO

OBJECTIVE: To learn lessons for maternity care by scrutinizing postpartum hemorrhage management (PPH) in cases of PPH-related maternal deaths in France and the Netherlands. METHODS: In this binational Confidential Enquiry into Maternal Deaths (CEMD), 14 PPH-related maternal deaths were reviewed by six experts from the French and Dutch national maternal death review committees regarding cause and preventability of death, clinical care and healthcare organization. Improvable care factors and lessons learned were identified. CEMD practices and PPH guidelines in France and the Netherlands were compared in the process. RESULTS: For France, new insights were primarily related to organization of healthcare, with lessons learned focusing on medical leadership and implementation of (surgical) checklists. For the Netherlands, insights were mainly related to clinical care, emphasizing hemostatic surgery earlier in the course of PPH and reducing the third stage of labor by prompter manual removal of the placenta. Experts recommended extending PPH guidelines with specific guidance for women refusing blood products and systematic evaluation of risk factors. The quality of CEMD was presumed to benefit from enhanced case finding, also through non-obstetric sources, and electronic reporting of maternal deaths to reduce the administrative burden. CONCLUSION: A binational CEMD revealed opportunities for improvement of care beyond lessons learned at the national level.


Assuntos
Morte Materna , Serviços de Saúde Materna , Hemorragia Pós-Parto , Gravidez , Feminino , Humanos , Hemorragia Pós-Parto/terapia , Morte Materna/prevenção & controle , Países Baixos/epidemiologia , França
4.
Rev Neurol ; 76(6): 209-211, 2023 03 16.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-36908034

RESUMO

INTRODUCTION: Multifocal motor neuropathy (MMN) is a chronic progressive immune-mediated neuropathy, predominantly involving upper limbs asymmetrically with electrophysiologic evidence of motor conduction block. The treatment of choice is immunoglobulin (Ig). Nevertheless, some patients may become resistant to treatment. We describe a patient with history of MMN who became resistant to gammaglobulin treatment but markedly improved using ultra-high doses of intravenous immunoglobulin. CASE REPORT: A 36-year-old woman with diagnosis of MMN. After 5 years of clinical stability under subcutaneous Ig (2g/kg/month) the patient developed bilateral weakness involving both hands. Treatment was switched to intravenous Ig 2g/kg/month, nevertheless, she progressed and became totally dependent for activities of daily living. We started ultra-high dose intravenous immunoglobulin 5 g/kg/month, with good response. She became independent for activities of daily living and returned to work. The only treatment related adverse event was headache during infusion. CONCLUSION: Ultra-high dose intravenous Ig seems to be a useful therapy in aggressive MMN with severe disability despite conventional treatment. A low cardiovascular risk score (QRISK2 less than 10%) and a daily intravenous Ig lower than 35 g reduce the risk of severe complications related to intravenous Ig.


TITLE: Dosis ultraaltas de inmunoglobulina endovenosa mejoran la fuerza y la funcionalidad motora en una paciente con neuropatía motora multifocal refractaria.Introducción. La neuropatía motora multifocal (NMM) es una enfermedad crónica, progresiva e inmunomediada que afecta predominantemente a los miembros superiores de forma asimétrica. En los estudios electrofisiológicos se evidencian bloqueos en la conducción motora, y el tratamiento de elección es la inmunoglobulina humana (Ig); sin embargo, algunos pacientes pueden desarrollar refractariedad a este tratamiento. Describimos el caso de una paciente con diagnóstico de NMM que desarrolló refractariedad a la gammaglobulina y que mejoró marcadamente con dosis ultraaltas de esta misma medicación. Caso clínico. Mujer de 36 años, con diagnóstico de NMM, que, después de cinco años de estabilidad clínica bajo tratamiento con Ig subcutánea en dosis de 2 g/kg/mes, evolucionó con grave debilidad en ambas manos, por lo que se decidió cambiar el tratamiento a Ig endovenosa. No obstante, progresó hasta quedar incapacitada para realizar actividades básicas de la vida diaria. Iniciamos tratamiento con Ig endovenosa en dosis ultraaltas (5 g/kg/mes) con buena respuesta, logrando independencia funcional en las actividades de la vida diaria y que regresara al trabajo. El único evento adverso relacionado con la Ig endovenosa en dosis ultraaltas fue la presencia de cefalea durante la infusión. Conclusión. La Ig endovenosa en dosis ultraaltas parece ser un tratamiento efectivo para pacientes con NMM y grave discapacidad no respondedores a dosis convencionales. Un bajo índice de riesgo cardiovascular (QRISK2 menor que 10%) y una dosis diaria de Ig endovenosa menor de 35 g reducen el riesgo de complicaciones graves relacionadas con el uso de esta medicación.


Assuntos
Doença dos Neurônios Motores , Polineuropatias , Feminino , Humanos , Adulto , Imunoglobulinas Intravenosas/uso terapêutico , Atividades Cotidianas , Extremidade Superior
5.
Neurología (Barc., Ed. impr.) ; 38(2): 82-86, marzo 2023. tab, graf, ilus
Artigo em Espanhol | IBECS | ID: ibc-216506

RESUMO

La arteriopatía autosómica dominante cerebral con infartos subcorticales y leucoencefalopatía es una enfermedad autosómica dominante de pequeños vasos causada por mutaciones del gen NOTCH3. Típicamente se presenta con migraña, eventos isquémicos cerebrales recurrentes y trastornos cognitivos. Las crisis epilépticas son inusuales como manifestación inicial, pero aún más infrecuente es su presentación como status epilepticus no convulsivo1. Se presenta una serie familiar de 3 casos con esta arteriopatía, entre los cuales 2 de ellos tuvieron status epilepticus como manifestación de la enfermedad. (AU)


Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small-vessel disease caused by mutations of the NOTCH3 gene. It typically presents with migraine, recurrent brain ischaemia, and cognitive disorders. Seizures rarely present as the initial manifestation, with non-convulsive status epilepticus being even less frequent. We present a series of 3 related patients with this arteriopathy, 2 of whom presented status epilepticus as a manifestation of the disease. (AU)


Assuntos
Humanos , Masculino , Feminino , Idoso , Arteriopatias Oclusivas , Leucoencefalopatias , Infarto Cerebral , Epilepsia , CADASIL
6.
Rev. neurol. (Ed. impr.) ; 76(6): 209-211, Mar 16, 2023. graf
Artigo em Espanhol | IBECS | ID: ibc-217458

RESUMO

Introducción: La neuropatía motora multifocal (NMM) es una enfermedad crónica, progresiva e inmunomediada que afecta predominantemente a los miembros superiores de forma asimétrica. En los estudios electrofisiológicos se evidencian bloqueos en la conducción motora, y el tratamiento de elección es la inmunoglobulina humana (Ig); sin embargo, algunos pacientes pueden desarrollar refractariedad a este tratamiento. Describimos el caso de una paciente con diagnóstico de NMM que desarrolló refractariedad a la gammaglobulina y que mejoró marcadamente con dosis ultraaltas de esta misma medicación. Caso clínico: Mujer de 36 años, con diagnóstico de NMM, que, después de cinco años de estabilidad clínica bajo tratamiento con Ig subcutánea en dosis de 2 g/kg/mes, evolucionó con grave debilidad en ambas manos, por lo que se decidió cambiar el tratamiento a Ig endovenosa. No obstante, progresó hasta quedar incapacitada para realizar actividades básicas de la vida diaria. Iniciamos tratamiento con Ig endovenosa en dosis ultraaltas (5 g/kg/mes) con buena respuesta, logrando independencia funcional en las actividades de la vida diaria y que regresara al trabajo. El único evento adverso relacionado con la Ig endovenosa en dosis ultraaltas fue la presencia de cefalea durante la infusión. Conclusión: La Ig endovenosa en dosis ultraaltas parece ser un tratamiento efectivo para pacientes con NMM y grave discapacidad no respondedores a dosis convencionales. Un bajo índice de riesgo cardiovascular (QRISK2 menor que 10%) y una dosis diaria de Ig endovenosa menor de 35 g reducen el riesgo de complicaciones graves relacionadas con el uso de esta medicación.(AU)


Introduction: Multifocal motor neuropathy (MMN) is a chronic progressive immune-mediated neuropathy, predominantly involving upper limbs asymmetrically with electrophysiologic evidence of motor conduction block. The treatment of choice is immunoglobulin (Ig). Nevertheless, some patients may become resistant to treatment. We describe a patient with history of MMN who became resistant to gammaglobulin treatment but markedly improved using ultra-high doses of intravenous immunoglobulin. Case report: A 36-year-old woman with diagnosis of MMN. After 5 years of clinical stability under subcutaneous Ig (2g/kg/month) the patient developed bilateral weakness involving both hands. Treatment was switched to intravenous Ig 2g/kg/month, nevertheless, she progressed and became totally dependent for activities of daily living. We started ultra-high dose intravenous immunoglobulin 5 g/kg/month, with good response. She became independent for activities of daily living and returned to work. The only treatment related adverse event was headache during infusion. Conclusion: Ultra-high dose intravenous Ig seems to be a useful therapy in aggressive MMN with severe disability despite conventional treatment. A low cardiovascular risk score (QRISK2 less than 10%) and a daily intravenous Ig lower than 35 g reduce the risk of severe complications related to intravenous Ig.(AU)


Assuntos
Humanos , Feminino , Adulto , Imunização Passiva , Neuropatia Hereditária Motora e Sensorial , Polineuropatias , Pacientes Internados , Exame Físico , Neurologia , Doenças do Sistema Nervoso
7.
Neurologia (Engl Ed) ; 38(2): 82-86, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36402400

RESUMO

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small-vessel disease caused by mutations of the NOTCH3 gene. It typically presents with migraine, recurrent brain ischaemia, and cognitive disorders. Seizures rarely present as the initial manifestation, with non-convulsive status epilepticus being even less frequent. We present a series of 3 related patients with this arteriopathy, 2 of whom presented status epilepticus as a manifestation of the disease.


Assuntos
CADASIL , Leucoencefalopatias , Estado Epiléptico , Humanos , CADASIL/complicações , CADASIL/diagnóstico , CADASIL/genética , Infarto Cerebral , Imageamento por Ressonância Magnética , Receptor Notch3/genética , Estado Epiléptico/etiologia
8.
Bol. pediatr ; 63(266): 298-300, 2023. ilus
Artigo em Espanhol | IBECS | ID: ibc-232447

RESUMO

Introducción: El déficit de glucosa-6-fosfato deshidrogenasa es la alteración enzimática más frecuente a nivel eritrocitario. El debut característico lo constituye un paciente previamente sano en el que se desencadena una crisis hemolítica por determinados fármacos, infecciones o alimentos. En este último contexto es conocido como favismo el cuadro clínico secundario a la ingesta de habas. Caso clínico. Varón de 23 meses que consulta por fiebre, ictericia, palidez y coluria. Como antecedente personal de interés destaca la determinación de un rasgo falciforme en el cribado neonatal. Los resultados de la analítica sanguínea son compatibles con una crisis hemolítica no inmune, por lo que se establece como hipótesis diagnóstica una anemia hemolítica desencadenada por proceso infeccioso en paciente con rasgo falciforme. Puesto que el rasgo falciforme es asintomático, durante el ingreso se amplíó la anamnesis detectándose al menos un episodio de similares características, pero más leve, y al incidir en la dieta familiar se confirmó la ingesta intermitente de habas. Ante la posibilidad de favismo se solicitó análisis genético que confirmó el diagnóstico. Conclusiones. Las complicaciones de las enfermedades de base de cada paciente frecuentemente causan sus patologías, pero no siempre es así. Es fundamental realizar una anamnesis exhaustiva, dado que esta puede ofrecer claves diagnósticas inesperadas.(AU)


Introduction. Glucose-6-phosphate dehydrogenase deficiency is the most common enzymatic alteration at the erythrocyte level. The characteristic onset is a previously healthy patient in whom a hemolytic crisis is triggered by certain drugs, infections or foods. In this latter context, the clinical condition secondary to the ingestion of broad beans is known as favism. Clinical case. A 23-month-old male presented with fever, jaundice and choluria. As a personal history of interest, the determination of a sickle cell trait in neonatal screening stands out. The blood test results are compatible with a non-immune hemolytic crisis, so the diagnostic hypothesis is established as a hemolytic anemia triggered by an infectious process in a patient with sickle cell trait. During their stay in the ward, the anamnesis is expanded, detecting at least one episode with similar but milder characteristics and by influencing the family diet, the intermittent intake of beans at least once a month is confirmed. Given the possibility of favism, genetic analysis is requested to confirm the diagnosis. Conclusions. The complications of each patient’s underlying diseases often cause their pathologies, but this is not always the case. It is essential to carry out an exhaustive anamnesis, since this can offer unexpected.(AU)


Assuntos
Humanos , Masculino , Lactente , Traço Falciforme , Deficiência de Glucosefosfato Desidrogenase , Favismo , Anemia Hemolítica , Exame Físico , Pediatria , Pacientes Internados
9.
Food Sci Biotechnol ; 30(8): 1051-1061, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34471559

RESUMO

The aim of this work was to evaluate the technologies effect of cold extraction by centrifugation (CE) and ultrasound-assisted (US-CE) methods without adding water, on the avocado oil yield, nutritional composition, physicochemical characteristics, oxidative stability (oxidation temperature and time, besides activation energy) and accelerated shelf life regarding hexane extraction (control). The US-CE improved the physicochemical properties such as acidity, peroxides, and iodine indexes regarding CE and Control. US-CE improved the yield, nutritional quality of fatty acids, oxidative stability, shelf life, and ω-6/ω-3 ratio regarding CE. Furthermore, US-CE improved the ratio yield/time extraction of the oil and increased the oxidation temperature regarding control. The main advantage of oils extracted using CE and US-CE concerning control was higher oxidative stability. The most representative polyunsaturated fatty acids identified in all treatments were γ-linolenic and conjugated α-linolenic acids. α-linolenic acid was only detected in US-CE and control. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s10068-021-00940-w.

10.
Gynecol Obstet Fertil Senol ; 49(1): 9-26, 2021 01.
Artigo em Francês | MEDLINE | ID: mdl-33161191

RESUMO

OBJECTIVE: To describe, for the 2013-2015 period, the frequency, causes, risk factors, adequacy of care and preventability of maternal deaths in France. METHOD: Data from the National Confidential Enquiry into Maternal Deaths for 2013-2015. RESULTS: For the period 2013-2015, 262 maternal deaths occurred in France, one every four days, i.e a maternal mortality ratio of 10.8 per 100,000 live births (95 % CI 9.5-12.1), stable compared to 2010-2012. Compared to women aged 25-29, the risk is multiplied by 1.9 for women aged 30-34, by 3 for women aged 35-39 and by 4 for women aged 40 and over. Obese women are twice as frequent among maternal deaths (24 %) than in the general population of parturients (11 %). There are territorial disparities - the maternal mortality ratio in the French overseas departments is 4 times higher than in metropolitan France -, and social disparities - the mortality of migrant women remains higher than that of women born in France, particularly for women born in sub-Saharan Africa whose risk is 2.5 times higher than that native women. A striking result of the 2013-2015 period is the preponderance of suicides and cardiovascular diseases, the two leading causes of maternal mortality, each responsible for approximately one death per month. These two etiologies are not only the most frequent, but also among those with the highest proportion of preventable deaths, 91.3 % and 65.7 % respectively. Another important result is the continued decrease in mortality from obstetric haemorrhage, halved in 15 years, particularly the decrease n hemorrhages due to uterine atony. Overall, 57.8 % of maternal deaths are considered probably or possibly preventable and in 66 % of cases, the care provided was not optimal. CONCLUSION: While the overall maternal mortality ratio remains stable overall, and territorial and social inequalities unchanged, the profile of the causes of maternal mortality is changing. Some developments are a success, such as the continued decrease in maternal mortality due to haemorrhage, the result of the general mobilisation of health actors on this issue. Others point to new priorities for mobilisation, in particular on the mental and cardiovascular health of women during pregnancy or in the year following childbirth. In order to go further in understanding the mechanisms involved, and to identify precise avenues for prevention, it is necessary to analyse in detail the stories of each maternal death in order to identify the opportunities for improvement repeatedly found in the series of deaths. This is what the following articles in this issue propose, with an analysis by cause of death.


Assuntos
Morte Materna , Suicídio , Inércia Uterina , Adulto , Feminino , França/epidemiologia , Humanos , Morte Materna/prevenção & controle , Mortalidade Materna , Pessoa de Meia-Idade , Gravidez
11.
Gynecol Obstet Fertil Senol ; 49(1): 3-8, 2021 01.
Artigo em Francês | MEDLINE | ID: mdl-33197652

RESUMO

Maternal mortality, despite its rarity in rich countries, remains a fundamental indicator of maternal health. It is considered as a "sentinel event", consequence of dysfunctions of the health care system, often cumulative. In addition to the classical epidemiological surveillance outcomes-number of deaths, maternal mortality ratio and identification of the subgroups of women at higher risk-its study allows an accurate analysis of each deceased woman's trajectory to identify opportunities for improvements in the content or organization of care; the correction of which will make it possible to prevent deaths but also upstream morbid events affected by the same dysfunctions. To achieve this dual epidemiological and clinical audit objective, an ad hoc enhanced system is needed. France has had such a system since 1996, the National Confidential enquiry into maternal deaths (ENCMM), coordinated by the Inserm Epopé team. The methodology has been adapted over time to improve completeness and better document cases. The first step is the multi-source identification (direct declaration, death certificate, birth certificates, hospital discharge data) of women who died during pregnancy or within one year of its end, in metropolitan France and overseas departments. The second step is the collection of detailed information for each death by a pair of clinical assessors. Recent evolutions aim to better document the social context of women as well as the background of women who have died of suicide. Psychiatrists have been included among the assessors. The third stage is the review of these anonymized documents by the National Committee of Experts on Maternal Mortality, which judges whether the death is maternal (causal link) and makes a judgment on the adequacy of care and avoidability of death. A psychiatrist is now associated to the CNEMM for the assessment of maternal suicides. The synthesis of the information thus collected for maternal deaths in the period 2013-2015 is presented in these articles of this special issue.


Assuntos
Morte Materna , Complicações na Gravidez , Suicídio , Feminino , França/epidemiologia , Humanos , Morte Materna/etiologia , Mortalidade Materna , Gravidez
14.
Neurologia (Engl Ed) ; 2020 Oct 02.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-33020014

RESUMO

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small-vessel disease caused by mutations of the NOTCH3 gene. It typically presents with migraine, recurrent brain ischaemia, and cognitive disorders. Seizures rarely present as the initial manifestation, with non-convulsive status epilepticus being even less frequent. We present a series of 3 related patients with this arteriopathy, 2 of whom presented status epilepticus as a manifestation of the disease.

17.
Gynecol Obstet Fertil Senol ; 47(1): 30-35, 2019 01.
Artigo em Francês | MEDLINE | ID: mdl-30497941

RESUMO

OBJECTIVE: To describe maternal deaths in France associated with Marfan's syndrome or vascular Ehlers-Danlos syndrome. STUDY DESIGN: A retrospective descriptive study based on data from the national confidential enquiry into maternal deaths, in France, during 2001-2012. Characteristics of the patients, their pregnancies and details of their deaths were analysed. The specific maternal mortality ratio by Marfan's syndrome or vascular Ehlers-Danlos syndrome was estimated. RESULTS: Among 973 maternal deaths that occurred during the study period, five (0.4%) had a Marfan's syndrome (n=3) or a vascular Ehlers-Danlos syndrome (n=2), confirmed or suspected. The maternal mortality ratio due to Marfan's syndrome or vascular Ehlers-Danlos syndrome between 2001 and 2012 was 0.04/100,000 live births (IC 95% [0.011-0.2]). Three maternal deaths were caused by aortic dissections and two by other arterial ruptures. The deaths have occurred after 37 weeks of pregnancy for 4 patients, and at fifteen days of post-partum for one patient. The median age of death was 30 years. Three patients were nulliparous. Marfan's syndrome and vascular Ehlers-Danlos syndrome were not identified before the death of these five patients. CONCLUSION: Five patients with, or suspected to have, Marfan's syndrome or vascular Ehlers-Danlos syndrome were identified. Early diagnosis of these syndromes in pregnant women before life threatening events is very important, especially to refer them to appropriate care.


Assuntos
Síndrome de Ehlers-Danlos/complicações , Síndrome de Ehlers-Danlos/mortalidade , Síndrome de Marfan/complicações , Síndrome de Marfan/mortalidade , Complicações na Gravidez/mortalidade , Adulto , Diagnóstico Precoce , Feminino , França/epidemiologia , Idade Gestacional , Humanos , Morte Materna , Mortalidade Materna , Período Pós-Parto , Gravidez , Estudos Retrospectivos
18.
Anaesth Crit Care Pain Med ; 38(4): 363-369, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30583117

RESUMO

INTRODUCTION: Maternal intensive care unit admission is an indicator of severe maternal morbidity. The objective of this study was to estimate rates of maternal intensive care unit admission during or following pregnancy in France, and to describe the characteristics of women concerned, the severity of their condition, associated diagnoses, regional disparities, and temporal trends between 2010 and 2014. METHODS: Women hospitalised in France in intensive care units during pregnancy or up to 42 days after pregnancy between January 2010 and December 2014 were identified using the national hospital discharge database (PMSI-MCO). Trends in incidence rates were quantified using percentages of average annual variation based on a Poisson regression model. RESULTS: In total, 16,011 women were admitted to intensive care units, representing an overall incidence of 3.97‰ deliveries. This number decreased significantly by 1.7% on average per year. For women who gave birth (60.5% by C-section), 62.5% of admissions occurred during their hospitalisation for delivery. The SAPS II score, an indicator of severity, significantly increased from 18.4 in 2010 to 21.5 in 2014. Obstetrical haemorrhage (39.8%) and hypertensive complications during pregnancy (24.8%) were the most common reasons for admission. In mainland France, the Ile-de-France (i.e., greater Paris) region had the highest rates of intensive care units admission (5.05‰) while the Pays-de-la-Loire region had the lowest (2.69‰). CONCLUSION: The rate of maternal intensive care unit admission decreased from 2010 to 2014 in France, with a concomitant increase in case severity. In-depth studies are needed to understand the territorial disparities identified.


Assuntos
Hospitalização/estatística & dados numéricos , Hospitalização/tendências , Unidades de Terapia Intensiva , Complicações na Gravidez , Adolescente , Adulto , Feminino , França , Humanos , Pessoa de Meia-Idade , Gravidez , Complicações na Gravidez/terapia , Índice de Gravidade de Doença , Fatores de Tempo , Adulto Jovem
19.
Rev. esp. ped. (Ed. impr.) ; 74(1): 21-24, oct. 2018. ilus
Artigo em Espanhol | IBECS | ID: ibc-179180

RESUMO

La torsión testicular prenatal ocurre intraútero y se des-cubre inmediatamente en la exploración del recién nacido. Existen antecedentes familiares en un 10% de los niños. La clínica varía dependiendo del momento en el que ha ocurrido la torsión durante la gestación. En cuanto al diagnóstico, se basa en la sospecha clínica y el empleo de la ecografía, que se puede complementar con otras técnicas novedosas en pediatría como la elastografía. El manejo terapéutico sigue siendo controvertido. El objetivo de la comunicación es hacer una revisión y puesta al día de la torsión testicular prenatal, valorando el empleo de la elastografía como técnica complementaria de ayuda en el diagnóstico. Presentamos el caso de un neonato de 18 horas de vida, que en la primera exploración presentaba un testículo aumentado de tamaño, indoloro y de consistencia dura. En la historia familiar, el padre refería haber sufrido una torsión testicular también intraútero. Se realizó una ecografía que confirmó la sospecha clínica de torsión testicular prenatal, completándose el estudio con una elastografía, que mostró un testículo duro y rígido. El paciente fue valorado por Cirugía Pediátrica, decidiendo actitud expectante inicial y controles clínicos evolutivos


Prenatal testicular torsion occurs intrauterine and is dis-covered immediately during the exploration of the newborn. There is a previous family history in 10% of the children. The symptomatology varies depending on the moment in which the torsion occurred during pregnancy. The diagnosis is based on clinical suspicion and the use of ultrasound, which can be complemented with other new techniques in Pediatrics such as elastography. The therapeutic treatment remains controversial. The objective is to review and update the sources about prenatal testicular torsion and introduce the use of elastography as a complementary technique to help with the diagnosis. We report an 18-hour old newborn, who presents an enlarged, painless testicle of a hard consistency in the first exploration. In his family history, the father reports having suffered intrauterine testicular torsion. An ultrasound was performed which confirmed the clini-cal suspicion of prenatal testicular torsion. The study was completed with an elastography, which showed a hard and rigid testicle. The patient was evaluated by the department of Pediatric Surgery, who initiately decided a conservative management and clinical evolutionary controls


Assuntos
Humanos , Masculino , Recém-Nascido , Torção do Cordão Espermático/congênito , Técnicas de Imagem por Elasticidade/métodos , Conduta Expectante , Torção do Cordão Espermático/diagnóstico por imagem , Doenças Testiculares/diagnóstico por imagem
20.
Rev Clin Esp (Barc) ; 218(9): 461-467, 2018 Dec.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-30243523

RESUMO

BACKGROUND: To determine the prevalence of abdominal aortic aneurysm (AAA) (arterial diameter ≥30mm), in patients with high or very high cardiovascular risk (CVR) and to evaluate their clinical features. PATIENTS AND METHODS: Observational, cross-sectional and multicentric study conducted in Spanish Internal Medicine Services. We enrolled men with age >55years and women >65years who had a high or very high CVR. RESULTS: The study included 659 patients. The prevalence of AAA was 8% (53 patients). 76.9% were male with a mean age of 71±8.7years. The multivariate analysis showed an association between AAA and age (OR: 1.06; 95%CI: 1.02-1.1; P<.01), male sex (OR: 5.6; 95%CI: 1.6-18.8; P=.01), active smoking (OR: 3.22; 95%CI: 1.16-8.93; P=.024) and peripheral arterial disease (OR: 3.51; 95%CI: 1.73-7.09; P<.01). Diabetes mellitus was an independent protective factor (OR: 0.41; 95%CI: 0.22-0.78; P=.06). Those with subaneurysmal dilatation of the abdominal aorta (diameter 25-29.9mm) presented similar features as patients with AAA. CONCLUSIONS: The prevalence of AAA in patients with high CVR is high. Ultrasound screening can be performed by general practitioners. Men >65years with elevated CVR could benefit, particularly in the presence of active smoking or peripheral arterial disease.

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