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Risco de tromboembolismo venoso e tromboprofilaxia nos hospitais portugueses – Estudo ARTE
Get PDFINTRODUCTION:
Venous thromboembolism (VTE) is a relatively common complication during hospital stay and determination of VTE risk is critical to choosing the best prophylactic strategy for each patient.
OBJECTIVES:
In the present study we studied the risk profile for VTE in hospitalized patients in a group of hospitals in Portugal.
METHODS:
Based on an open cohort of 4248 patients hospitalized in surgical, internal medicine, orthopedic or oncology departments, we determined thromboembolic risk at admission by applying a new score, modified from the Caprini and Khorana scores. Thrombotic, embolic and bleeding events and death were assessed during hospital stay and at three and six months after discharge.
RESULTS:
The median duration of hospital stay was five days and thromboembolic prophylaxis was implemented in 67.2% (n=2747) of the patients. A low molecular weight heparin was used as prophylaxis in the majority of cases (88.3%). Most patients were classified as high (68%) or intermediate risk (27%). The overall incidence of thromboembolic events was 1.5%. Major bleeding events were recorded in 3.89% of patients and all-cause mortality was 3.4%.
CONCLUSIONS:
In this study, we propose a modified VTE risk score that effectively risk-stratifies a mixed inpatient population during hospital stay. The use of this score may result in improvement of thromboprophylaxis practices in hospitals.info:eu-repo/semantics/publishedVersio
Amniotic Fluid Embolism. Is a New Pregnancy Possible? Case Report.
Get PDFAmniotic fluid embolism (AFE) is a rare but potentially catastrophic clinical condition, characterized by a combination of signs and symptoms that reflect respiratory distress, cardiovascular collapse and disseminated intravascular coagulation (DIC). Its pathogenesis is still unclear. More recently, the traditional view of obstruction of pulmonary capillary vessels by amniotic fluid emboli as the main explanation for the etiology has been ruled out, and immunologic factors and the activation of the inflammatory cascade took on an important role. Amniotic fluid embolism has an unpredictable character, its diagnosis is exclusively clinical, and the treatment consists mainly of cardiovascular support and administration of blood products to correct the DIC. No diagnostic test is recommended until now, though multiple blood markers are currently being studied. The authors present a case report of a woman who had survived AFE in her previous pregnancy and had a subsequent pregnancy without recurrence, providing one more clinical testimony of the low risks for the pregnancy after AFE.info:eu-repo/semantics/publishedVersio
Transfusão Permuta Parcial em Crianças e Jovens com Doença Falciforme: Comparação da Experiência Manual com o Procedimento Automatizado
Get PDFINTRODUCTION:
The benefits of manual versus automated red blood cell exchange have rarely been documented and studies in young sickle cell disease patients are scarce. We aim to describe and compare our experience in these two procedures.
MATERIAL AND METHODS:
Young patients (≤ 21 years old) who underwent manual- or automated-red blood cell exchange for prevention or treatment of sickle cell disease complications were included. Clinical, technical and hematological data were prospectively recorded and analyzed.
RESULTS:
Ninety-four red blood cell exchange sessions were performed over a period of 68 months, including 57 manual and 37 automated, 63 for chronic complications prevention, 30 for acute complications and one in the pre-operative setting. Mean decrease in sickle hemoglobin levels was higher in automated-red blood cell exchange (p < 0.001) and permitted a higher sickle hemoglobin level decrease per volume removed (p < 0.001), while hemoglobin and hematocrit remained stable. Ferritin levels on chronic patients decreased 54%. Most frequent concern was catheter outflow obstruction on manual-red blood cell exchange and access alarm on automated-red blood cell exchange. No major complication or alloimunization was recorded.
DISCUSSION:
Automated-red blood cell exchange decreased sickle hemoglobin levels more efficiently than manual procedure in the setting of acute and chronic complications of sickle cell disease, with minor technical concerns mainly due to vascular access. The threshold of sickle hemoglobin should be individualized for clinical and hematological goals. In our cohort of young patients, the need for an acceptable venous access was a limiting factor, but iron-overload was avoided.
CONCLUSION:
Automated red blood cell exchange is safe and well tolerated. It permits a higher sickle hemoglobin removal efficacy, better volume status control and iron-overload avoidance.info:eu-repo/semantics/publishedVersio
Screening for Pompe disease in a Portuguese high risk population
No full textPompe disease is a rare metabolic disorder with available enzymatic replacement therapy. Contrasting with the classic infantile form, the others subtypes have a heterogeneous presentation that makes an early and accurate diagnosis difficult. We conducted a prospective, multicenter, observational study to identify undiagnosed patients. During a one-year period, patients followed in Portuguese neuromuscular outpatient clinics with proximal muscle weakness affecting upper and/or lower limbs, hyperCKemia in two or more determinations or hypotonia and hyperCKemia, were screened for acid α-glucosidase deficiency by dried blood spots. Lysosomal acid-alpha-1,4-glucosidase activity was determined by tandem mass spectrometry and positive results were confirmed by molecular study. From the 99 patients screened, Pompe disease was confirmed in 4, with age of onset ranging from 2.5 to 48 years, all with limb girdle muscle weakness, corresponding to a frequency of 4% in our cohort and 4.9% of limb girdle muscle weakness. Screening for Pompe disease in high risk populations, using dried blood spots, was already performed in some European populations. Apart from two negative Scandinavian studies, positive cases were confirmed in 2.8-7.9% of patients presenting with limb girdle muscle weakness and in 0-2.5% with isolated hyperCKemia.info:eu-repo/semantics/publishedVersio
Benefícios após implementação de um protocolo de "Patient Blood Management"
Get PDFObjectivo: Frequentemente os doentes avaliados no contexto
de cirurgia electiva apresentam anemias que, caso não sejam
corrigidas, irão aumentar o risco de mortalidade e morbilidade
pós-cirúrgica, de infecções, de necessidade de transfusões
de componentes sanguíneos (CS) e do aumento do tempo de
hospitalização 1 . O Patient Blood Mangement (PBM) é uma
abordagem baseada na evidência e multidisciplinar que visa
optimizar os cuidados oferecidos ao doente cirúrgico, adotando-
se medidas de otimização que permitam minimizar a necessidade
de transfusão de CS, nomeadamente Concentrados Eritrocitários
(CEs). Estas medidas têm lugar, em todo o período peri-operatório.
O PBM engloba uma equipa multidisciplinar centrada no doente
e um dos seus objetivos é a otimização dos valores de Hb pré-
cirúrgicos, no doente proposto para cirurgia programada.
Pretendemos partilhar os resultados obtidos, após implementação
de um protocolo de PBM entre o Serviço de Sangue e Medicina
Transfusional e o da Cirurgia B do HFF, em que, entre outros
parâmetros, é analisada a eventual necessidade de correção de
anemias ferropénicas.
Material e métodos: Foram englobados neste estudo todos os
pedidos de PBM desde a sua implementação em 2015 até Janeiro
de 2017. Foram colhidos dados dos valores de Hemoglobina
(Hb) de cada doente que efectuou consulta de PBM antes e após
tratamento, endovenoso (ev), com ferro (Carboximaltose férrica
- Ferinject ® ) e registada a necessidade transfusional de CEs no
período peri-operatório.
Resultados: Foram avaliados em consulta de PBM 40 doentes (90%
com neoplasia gástrica ou colo-retal), 20 (50%) dos quais foram
submetidos a cirurgia abdominal por laparotomia ou laparoscopia,
dos restantes 20 (50%): 2 (10%) recusaram tratamento com ferro
ev, 3 (15%) não necessitavam de tratamento cirúrgico, 3 (15%)
recusaram cirurgia, 3 (15%) não apresentavam as condições
clínicas para administração de ferro ev e os restantes 9 (45%)
ainda aguardavam cirurgia. Durante este período ocorreram 3
óbitos, no grupo dos doentes que aguardavam cirurgia, resultantes
da sua patologia de base. Dos 20 doentes operados, 52.3% eram
do sexo feminino (♀) e 47.7% do sexo masculino (♂). A média da
idade dos doentes estudados foi de 73 anos no ♀ e de 70 anos no
♂. O valor médio de Hb, registado, pré-tratamento com ferro ev
foi de 10.1 g/dL e de 9.7 g/dL respetivamente para ♀ e ♂. Após
um tratamento com ferro ev os valores de Hb subiram para 11.1
(♀) e 11.4 g/dL (♂). Do total de doentes submetidos a cirurgia,
2 foram transfundidos com concentrado eritrocitário (2CEs cada
um) no período peri-operatório.
Conclusões: Desde a sua implementação, parcial, no HFF,
o PBM permitiu a otimização de doentes com anemia pré-
operatória não tendo sido realizada transfusão de CE em 90%
dos doentes sujeitos a cirurgia. O PBM é, em nosso entender,
uma ferramenta essencial para a optimização dos doentes
pré-cirúrgicos, permitindo uma racionalização dos recursos
disponíveis em CEs e concomitantemente evitar potenciais
efeitos adversos, à transfusão, nestes doentes já debilitados pela
patologia de base.
1 Shander A. et al, "Patient Blood Management", British Journal
of Anaesthesia, 109 (1): 55-68, (2012).N/
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia
Get PDFAdvances in human genetics in recent years have largely been driven by next-generation sequencing (NGS); however, the discovery of disease-related gene mutations has been biased toward the exome because the large and very repetitive regions that characterize the non-coding genome remain difficult to reach by that technology. For autosomal-dominant spinocerebellar ataxias (SCAs), 28 genes have been identified, but only five SCAs originate from non-coding mutations. Over half of SCA-affected families, however, remain without a genetic diagnosis. We used genome-wide linkage analysis, NGS, and repeat analysis to identify an (ATTTC)n insertion in a polymorphic ATTTT repeat in DAB1 in chromosomal region 1p32.2 as the cause of autosomal-dominant SCA; this region has been previously linked to SCA37. The non-pathogenic and pathogenic alleles have the configurations [(ATTTT)7-400] and [(ATTTT)60-79(ATTTC)31-75(ATTTT)58-90], respectively. (ATTTC)n insertions are present on a distinct haplotype and show an inverse correlation between size and age of onset. In the DAB1-oriented strand, (ATTTC)n is located in 5' UTR introns of cerebellar-specific transcripts arising mostly during human fetal brain development from the usage of alternative promoters, but it is maintained in the adult cerebellum. Overexpression of the transfected (ATTTC)58 insertion, but not (ATTTT)n, leads to abnormal nuclear RNA accumulation. Zebrafish embryos injected with RNA of the (AUUUC)58 insertion, but not (AUUUU)n, showed lethal developmental malformations. Together, these results establish an unstable repeat insertion in DAB1 as a cause of cerebellar degeneration; on the basis of the genetic and phenotypic evidence, we propose this mutation as the molecular basis for SCA37.info:eu-repo/semantics/publishedVersio
Reconstruction of delayed scleral flap melting with bovine pericardium after trabeculectomy with mitomycin C.
Get PDFAim: To present a challenging case of hypotony after trabeculectomy and its treatment. Case description: A 22-year-old woman with juvenile glaucoma underwent a conventional trabeculectomy with mitomycin C on the right eye (OD). In the immediate postoperative period, we observed a hyperfiltration bleb with hypotony refractory to conservative measures leading to hypotony maculopathy. A surgical revision with scleral flap resuture and conjunctival graft was performed with a satisfactory result and resolution of hypotony maculopathy. After two years, the patient complained of low visual acuity (VA) of the OD. During examination, we observed a fine and avascular bleb with Seidel and visualization of the underlying uveal tissue, an intraocular pressure (IOP) of 5 mmHg, and chorioretinal folds. A new revision of the trabeculectomy was performed. During the procedure, it was not possible to identify the scleral flap, so the fistula was closed with a patch of collagenous membrane derived from bovine pericardium (Tutopatch® graft). A good clinical evolution occurred. After 2 months, IOP was 15 mmHg without Seidel or changes in the fundus and VA was 20/20. After 8 months of follow-up, the IOP remains stable without further complaints. Conclusion: This case illustrates the difficulties faced in the management of a common complication of trabeculectomy and highlights some of the options available for its treatment. There are few reports of scleral melting after trabeculectomy. However, trauma and scleral necrosis associated with mitomycin are listed as the main causes. The use of a scleral patch derived from bovine pericardium allows effective suturing and closure of the aqueous leak.info:eu-repo/semantics/publishedVersio
Overweight in youth and sleep quality: is there a link?
Get PDFOBJECTIVE:
Overweight seems to be related to a higher prevalence of sleep disturbances. Decreased sleep duration and altered sleep quality are risk factors for obesity. Our aim was to compare the sleep pattern of overweight children with that of a matched control group and assess the relationship between sleep quality and obesity.
MATERIALS AND METHODS:
Retrospective cohort study comparing 41 overweight children with a normal-weight control group, both submitted to polysomnography. The samples were matched for age, sex, and apnea-hypopnea index. Body mass index (BMI) z-scores were calculated using World Health Organization (WHO) growth charts. Insulin resistance in the study group was determined using the homeostatic model assessment for insulin resistance (HOMA-IR). Sleep patterns were compared. The statistical analysis was performed using SPSS® version 21.
RESULTS:
The mean age (± standard deviation) of the population was 10 ± 3.4 years (min. 5 years; max. 17 years). Fifty-six percent of the participants in both groups were girls. N3% was lower in the study group (18.95 ± 6.18%) compared with the control group (21.61 ± 7.39%; t (40) = 2.156, p = 0.037). We found a correlation in the study group between HOMA-IR and N3% (Rs = -0.434, p = 0.008).
CONCLUSION:
The present study suggests a link between overweight/obesity and altered sleep quality due to compromised non-rapid eye movement sleep, an indirect marker of sleep quality. There was also a link between slow-wave sleep duration and insulin resistance. We must find a strategy to provide adequate slow-wave sleep duration to reduce the obesity epidemic at young ages. Further research is needed.info:eu-repo/semantics/publishedVersio