Browsing by Author "Reis, A."
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- Alterações morfológicas e bioquímicas na trissomia 21Publication . Reis, A.; Azevedo, S.; Lebre, A.; Valente, E.; Lima, L.; Cunha, A.Introdução: A Trissomia 21 (T21) é a aneuploidia mais comum, apresentando uma prevalência de 1/670 nascimentos. É a principal causa de défice intelectual moderado a grave, e está associada a diversas anomalias congénitas, sendo as malformações cardiovasculares as mais frequentes. O objetivo deste trabalho é caracterizar as alterações morfológicas e bioquímicas nos casos de T21. Material e Métodos: Estudo prospetivo, realizado no nosso Hospital entre 1998 e 2008, de avaliação dos casos com rastreio bioquímico considerado positivo para T21. Foram também analisados os resultados dos exames invasivos realizados no mesmo período e revistos os processos com diagnóstico de T21 neste exame, assim como os processos das mães cujos recém-nascidos foram codificados com diagnóstico de T21 na alta. Resultados: Neste período foram efetuados 12163 rastreios. Foram identificados 18 casos de T21. Houve 2 resultados falsos-negativos, representando uma taxa de deteção do rastreio de 88,9%. A mediana das MoM's dos marcadores bioquímicos nas grávidas com fetos afetados foi: 0,735 de AFP, 0,685 de µE3 e 2,54 de βHCG. Quinze dos 18 casais optaram por interromper a gravidez. Nasceram 3 recém-nascidos com T21. As anomalias presentes nos fetos afetados foram essencialmente alterações do hábito externo, nomeadamente a existência de pregas palmares transversais em uma ou ambas as mãos e alterações craniofaciais. Quanto às alterações do hábito interno as mais comuns foram as malformações cardiovasculares, nomeadamente a comunicação interventricular (CIV). Discussão: Neste estudo a taxa de deteção do rastreio foi elevada. A maioria dos casais optou por interromper a gravidez. A maioria dos fetos e recém-nascidos afetados apresentou alterações morfológicas subtis, difíceis de detetar ecograficamente, salientando a importância do rastreio bioquímico.
- Antenatal detection of single umbilical artery: what does it mean?Publication . Ferreira, V.; Vaz, I.; Reis, A.; Mendes, M.J.; Rodrigues, M.C.ABSTRACT Introduction: The presence of a single umbilical artery (SUA) is recognised as a soft marker for congenital anomalies, aneuploidy, earlier delivery and intra-uterine growth restriction and/or low birth weight. The aim of this study was to assess the incidence of SUA in a selected population. And secondly, to examine the clinical significance of this soft marker. Material and methods: A retrospective analysis, over a 36-month period, of all cases of pregnancy interruption due to medical causes, up to 16 weeks of gestation, with prenatal diagnosis of SUA; cases of live born with a prenatal diagnosis of SUA or after delivery, at the routine examination of the placenta. Fetal growth and the risk of preterm labor are also to consider in the surveillance of these pregnancies. Results: Thirty nine cases of SUA were identified during the study period. Incidence of SUA in live born was 0.32% (n=30) and in pregnancy interruption due to medical causes was 12.9% (n=9). The antenatal detection rate was 77%. This ecographic soft marker was an isolated finding in 27 live born (90%). In live born with SUA and associated malformations (13.3%), urinary abnormalities were identiÞ ed in three cases (75%), and a skeletal with esophageal malformation was identified in one case (25%). Preterm birth occurred in seven cases (23.3%) and birth weight below 10th percentile in four cases (13.3%). Discussion and conclusions: The presence of SUA in antenatal period should alert the sonographer and clinician for the need of a detailed examination of the fetus to exclude other anomalies. Fetal growth and the risk of preterm labor are also to consider in the surveillance of these pregnancies.
- Health-Related Quality of Life in Pulmonary Hypertension and Its Clinical Correlates: A Cross-Sectional StudyPublication . Reis, A.; Santos, M.; Vicente, M.; Furtado, I.; Cruz, C.; Melo, A.; Carvalho, L.; Gonçalves, F.; Sa-Couto, P.; Almeida, L.BACKGROUND: Health-related quality of life (HRQoL) impairment is common in pulmonary hypertension (PH), but its clinical predictors are not well established. This study aims to characterize the HRQoL of patients with pulmonary arterial hypertension (PAH) and other precapillary forms of PH (pcPH) and to explore its clinical correlates. MATERIALS AND METHODS: A cross-sectional, observational study of patients with documented PAH and other forms of pcPH. Patients completed two patient-reported outcome measures (PROM): Cambridge Pulmonary Hypertension Outcome Review (CAMPHOR) and Nottingham Health Profile (NHP). Clinical characteristics were retrieved from electronic medical records. RESULTS: Mean CAMPHOR and NHP scores for the study population were indicative of a moderate HRQoL impairment. Patients in World Health Organisation Functional Classes (WHO FC) III/IV showed significantly worse HRQoL. The main clinical correlates of HRQoL were WHO FC, 6-minute walking distance (6MWD), and Borg dyspnoea index. Overall quality of life (QoL), assessed through CAMPHOR's QoL domain, showed patterns comparable to HRQoL measured by both instruments. CONCLUSIONS: HRQoL, measured by two different PROMs, is impaired in Portuguese patients with PAH and other forms of pcPH, particularly in patients with increased disease severity. WHO FC, 6MWD, and Borg dyspnoea index are highly correlated with HRQoL and QoL.
- Nefrectomia laparoscópica retroperitoneal em crianças com idade inferior a nove anos: Estado da ArtePublication . Moreira-Pinto, J.; Osório, A.; Pereira, J.; Enes, C.; Ribeiro-Castro, J.; Reis, A.Introdução e Objectivos: Em Portugal, a experiência em retroperitoneoscopia pediátrica é escassa. Os autores apresentam a primeira série portuguesa de nefrectomias realizadas por esta via, em crianças com idade inferior a nove anos, e uma revisão da literatura sobre o tema. Material e Métodos: Análise retrospectiva dos processos das crianças submetidas a nefrectomia laparoscópica retroperitoneal (NLR), de Janeiro de 2009 e Dezembro de 2009, num Departamento de Cirurgia Pediátrica. A revisão da literatura foi realizada através de uma pesquisa na base de dados Medline. Resultados: Foram realizadas oito NLR. A média de idades dos doentes operados foi 4,5 anos (mínimo = 11 meses, máximo = 8,6 anos). As indicações cirúrgicas encontradas foram: quatro rins multiquísticos, três nefropatias de refluxo, uma nefropatia obstructiva. Quatro NLR foram realizadas à esquerda. O tempo cirúrgico médio foi 99 minutos (mínimo = 50 minutos, máximo 180 minutos), notando-se um encurtamento do mesmo à medida que aumenta a experiência da equipa. Não houve nenhuma conversão para lombotomia. A média de tempo de internamento foi 1,5 dias (mínimo = 1 dia, máximo = 2 dias). Não se registaram complicações intra-operatórias nem pós-operatórias. Conclusão: A NLR é exequível em crianças de idade inferior a nove anos e deve ser considerado tratamento de eleição na idade pediátrica.
- Portuguese validation of the Cambridge pulmonary hypertension outcome review (CAMPHOR) questionnairePublication . Reis, A.; Twiss, J.; Vicente, M.; Gonçalves, F.; Carvalho, L.; Meireles, J.; Melo, A.; McKenna, S.; Almeida, L.BACKGROUND: Patients with pulmonary arterial hypertension (PAH) and other forms of precapillary pulmonary hypertension (PH) have impaired quality of life (QoL). The Cambridge Pulmonary Hypertension Outcome Review (CAMPHOR) is a PH-specific patient-reported outcome measure that assesses symptoms, activity limitations and QoL. It was originally developed in UK-English. The main objective of this study was to create an adaptation of the CAMPHOR suitable for a Portuguese-speaking population. METHODS: A multi-step approach was followed: bilingual and lay panel translation; cognitive debriefing interviews; and psychometric testing in repeated postal surveys (2 weeks apart) including assessment of internal consistency, reproducibility and validity. The Nottingham Health Profile (NHP) questionnaire was used as a comparator instrument to test convergent validity. RESULTS: The CAMPHOR was translated without difficulty by the two panels. Cognitive debriefing interviews showed the questionnaire was easily understood and considered relevant to patients' experience with their illness. Psychometric evaluation was performed with 50 PAH patients (47 ± 14 years, 37 women). Cronbach's alpha coefficients showed good internal consistency for the three CAMPHOR scales [Symptoms = 0.95; Activities = 0.93 and QoL = 0.94]. Test-retest coefficients showed that all scales had excellent reliability (Symptoms = 0.94; Activities = 0.89 and QoL = 0.93), indicating low levels of random measurement error. The CAMPHOR correlated as expected with the NHP. The magnitude of correlations followed a similar pattern to those in the original development study. The CAMPHOR also exhibited evidence of known group validity in its ability to distinguish between self-reported severity and general health groups. CONCLUSIONS: A valid and reliable version of the CAMPHOR questionnaire for the European Portuguese-speaking population was developed and is recommended for use.
- Posterior nutcracker syndrome with left renal vein duplication: a rare cause of haematuria in a 12-year-old boyPublication . Preza-Fernandes, J.; Amorim, R.; Gomes, M.; Oliveira, V.; Reis, A.; Ribeiro-Castro, J.Abstract The nutcracker syndrome (NCS) is a rare cause of haematuria. It embraces an extended nonpathognomonic spectrum of symptoms that imply a difficult diagnosis. Ultimately it may be associated with substantial morbidity and even life-threatening events. We report a rare cause if a 12-year-old boy who presented with a history of frequent intermittent episodes of painless constant haematuria. The cystoscopy showed a bloody urine ejaculate from the left ureter meatus. The Doppler ultrasonography showed turbulent pattern of venous blood flow of the posterior renal vein branch behind the aorta. The abdominopelvic computer tomography (apCT) revealed left renal vein (LRV) duplication with a dilated retroaortic branch, entrapped between the aorta and the vertebral column, promoting the renal nutcracker syndrome. The patient was initially hospitalized and managed with oral iron supplements and continuous saline bladder irrigation, not requiring additional treatment. The child is currently asymptomatic, with haemoglobin value returning to normal and therefore proposed to conservative management with close followup. The authors present a case report of episodic haematuria caused by a rare entity-posterior nutcracker syndrome with renal vein duplication.
- Pulmonary Hypertension in Portugal: First Data from a Nationwide RegistryPublication . Baptista, R.; Meireles, J.; Agapito, A.; Castro, G.; Marinho-Silva, A:; Shiang, T.; Gonçalves, F.; Rubalo-Martins, S.; Nunes-Diogo, A.; Reis, A.Introduction. Pulmonary arterial hypertension (PAH) is a rare disease that must be managed in specialized centers; therefore, the availability of epidemiological national data is critical. Methods. We conducted a prospective, observational, and multicenter registry with a joint collaboration from five centers from Portugal and included adult incident patients with PAH or chronic thromboembolic pulmonary hypertension (CTEPH). Results. Of the 79 patients enrolled in this study, 46 (58.2%) were classified as PAH and 33 patients (41.8%) as CTEPH. PAH patients had a mean age of 43.4 ± 16.4 years. Idiopathic PAH was the most common etiology (37%). At presentation, PAH patients had elevated right atrial pressure (RAP) (7.7 ± 5.9 mmHg) and mean pulmonary vascular resistance (11.4 ± 6.5 Wood units), with a low cardiac index (2.7 ± 1.1 L·min−1·m−2); no patient was under selective pulmonary vasodilators; however, at follow-up, most patients were on single (50%), double (28%), or triple (9%) combination vasodilator therapy. One-year survival was 93.5%, similar to CTEPH patients (93.9%), that were older (60.0 ± 12.5 years) and had higher RAP (11.0 ± 5.2 mmHg, ). Conclusions. We describe for the first time nationwide data on the diagnosis, management, and prognosis of PAH and CTEPH patients in Portugal. Clinical presentation and outcomes are comparable with those reported on other national registries.
- Pulmonary hypertension: Real-world data from a Portuguese expert referral centrePublication . Gomes, A.; Cruz, C.; Rocha, J.; Ricardo, M.; Vicente, M.; Melo, A.; Santos, M.; Carvalho, L.; Gonçalves, F.; Reis, A.Pulmonary hypertension (PH) is a heterogeneous, debilitating condition with highly relevant impact on functional capacity, quality of life, and life-expectancy.
- Tratamiento de reflujo vesicoureteralPublication . Castro, R.; Massó, P.; Reis, A.Abstract OBJECTIVES: Vesicoureteral reflux (VUR) is a frequent pathology, with an incidence of 29/50% in children studied for urinary tract infection (UTI) and 20% of newborns with the diagnosis of prenatal hydronephrosis. Over the years, the treatment has been the subject of many meetings, many research studies, and continues being a topic under discussion. The number of candidates for surgical treatment increased with the development of minimally invasive endoscopic techniques by subureteral injection of bulking agents. We present the results of the surgical treatment of VUR between 2001 and 2006. METHODS: We performed a retrospective study of the endoscopic treatment of VUR by subureteral injection of Dextranomer and hyaluronic acid copolymer (Copol-Dx/AH). All children undergoing treatment between July 1st 2001 and December 30th 2006 were included in this study. Treatment was performed in children with VUR grade II or greater. All patients presenting no reflux or grade I VUR on control VCUG were considered cured; stopping antibiotic prophylaxis was proposed in these cases. RESULTS: 661 children underwent treatment, 607 endoscopic and 54 with the Cohen technique. Among children treated endoscopically, 437 where females and 170 males. VUR was bilateral in 37.7% of the cases, with grade II being the most frequent (40% in males and 57% in females). Overall success rate was 70% after first treatment, 75% after second treatment and increased to 78% after the third. CONCLUSIONS: Subureteral injection of dextranomer and hyaluronic acid copolymer is on effective treatment in children with VUR, independently of the grade. It is a simple, safe, well tolerated procedure with low associated morbidity. Currently, it is the surgical treatment of choice in most patients with VUR.
- Varicocoelectomy in adolescents: laparoscopic versus open high ligation techniquePublication . Moreira-Pinto, J.; Osorio, A.; Carvalho, F.; Castro, J.; Enes, C.; Reis, A.; Cidade-Rodrigues, J.Background: Treatment of varicocoele is aimed at eliminating the retrograde reflux of venous blood through the internal spermatic veins. The purpose of this investigation was to compare laparoscopic varicocoelectomy (LV) with open high ligation technique in the adolescent population. Materials and Methods: We retrospectively evaluated 33 adolescents who underwent varicocoelectomy at our paediatric hospital, between May 2004 and September 2008. Patients were divided into two groups depending on the technique: those who had an LV and those submitted to an open varicocoelectomy (OV). We analysed side, age of surgery, follow-up period and the incidence of recurrence/persistence, hydrocoele formation and wound complication. Results: There were 24 patients in the LV group and 9 in the OV group. All varicocoeles were in the left side. Mean age was 12 years in both groups. Mean follow-up time was 32 months for the LV group and 38 months for the OV group (P = 0.49). There was no significant difference in the incidence of hydrocoele in both the groups (25% versus 22%, P = 0.626). There was no recurrence/persistence on the LV group, while in the OV group there were three cases (P = 0.015). Conclusion: LV seems more efficient than open high ligation technique in the treatment of adolescents«SQ» varicocoeles. Larger series are necessary to draw more reliable conclusions.