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Os AVC são amplamente reconhecidos como condições frequentes e devastadoras, com múltiplas consequências. A afasia é uma das complicações mais registadas e apesar das suas diferentes formas impõe, geralmente, limitações significativas no dia-a-dia, que ultrapassam a pessoa que vivencia esta realidade na primeira pessoa. Apesar de ser reconhecido o seu impacto pessoal, social e na qualidade de vida de forma global, a literatura revela-se escassa no que respeita à atenção sobre a experiência vivida, as experiências únicas e particulares das pessoas e dos seus conviventes significativos, no seu contexto habitual. O objetivo deste estudo é a descrição e interpretação dessas experiências, das vivências de cuidadores familiares informais de pessoas que sofrem de afasia após um AVC. Para tal, foi desenvolvido um estudo baseado numa abordagem fenomenológica-hermenêutica e realizadas entrevistas não estruturadas, a sete participantes. Da análise das entrevistas, emergiram quatro temas centrais: A carreira de cuidador familiar informal; A vivência da perda; O "Eu", o "Outro" e o "Nós" ­ o dia-a-dia com a afasia e Um percurso pelo cuidar construído com os "outros". Os resultados obtidos revelam que os cuidadores familiares vivenciam o seu papel em analogia com uma carreira. Este percurso de construção é influenciado pelo fator tempo, é marcado por uma substituição das necessidades individuais pelas do seu familiar, por uma urgência em estar sempre presente e em alerta, algo que a barreira comunicacional, provocada pela afasia, intensifica. Surge uma nova relação, uma nova forma de comunicar, procura-se continuamente o entendimento e a compreensão, procura-se ajudar o familiar assumindo a sua vida. Desenvolvem-se algumas estratégias mas a necessidade de informação e de mecanismos de coping efetivos é uma urgência. A família alargada é o suporte reconhecido por estes cuidadores. Os encontros com os enfermeiros são escassos, com os enfermeiros especialistas em enfermagem de reabilitação são nulos. A reunião concertada destes dados é crucial, nomeadamente para estes profissionais, para que possam cientificamente avaliar, planificar e desenhar programas interventivos de reabilitação, capazes de responder adequadamente às necessidades dos cuidadores familiares informais.

The strokes are widely recognized as frequent and devastating conditions, with multiple consequences. Aphasia is one of the recorded complications and despite their different forms imposes, generally, significant limitations in day-to-day, beyond the person who experiences this reality in the first person. Despite being recognized its personal, social and global quality of life impact, the literature reveals is scarce in relation to the attention on the experience, the unique and particular experiences of individuals and their significant cohabiting in its usual context. The aim of this study is the description and interpretation of these experiences, the experiences of informal family caregivers of people suffering from aphasia after a stroke. To this end, this study was developed based on a phenomenological hermeneutic approach and made no structures interviews, to seven participants. In the analysis of the interviews, four central themes emerged: The informal family caregiver career; The experience of loss; The "I", the "Other" and "We" - the day-to-day with aphasia and A tour of the care built with the "others". The results show that family caregivers experience their role in analogy with a career. This construction path is influenced by the time factor, it is marked by a replacement of individual needs for their familiar, for an urgency to be present and alert, something that the communication barrier, caused by aphasia, intensifies. Comes a new relationship, a new way to communicate, constantly looking up understanding, they try to help their familiar taking his life. They develop some strategies but the need for information and effective coping mechanisms is an emergency. The extended family is the recognized support for these caregivers. The meetings with the nurses are scarce, with specialist nurses rehabilitation are void. Concerted meeting of this data is crucial, especially for these professionals so that they can scientifically evaluate, plan and design intervention programs of rehabilitation, able to adequately meet the needs of informal family caregivers.

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Introduction: Risk Adjustment for Congenital Heart Surgery 1 (RACHS-1) score is a simple model that can be easily applied and has been widely used for mortality comparison among pediatric cardiovascular services. It is based on the categorization of several surgical palliative or corrective procedures, which have similar mortality in the treatment of congenital heart disease. Objective: To analyze the in-hospital mortality in pediatric patients (<18 years) submitted to cardiac surgery for congenital heart disease based on RACHS-1 score, during a 12-year period. Methods: A retrospective date analysis was performed from January 2003 to December 2014. The survey was divided in two periods of six years long each, to check for any improvement in the results. We evaluated the numbers of procedures performed, complexity of surgery and hospital mortality. Results: Three thousand and two hundred and one surgeries were performed. Of these, 3071 were able to be classified according to the score RACHS-1. Among the patients, 51.7% were male and 47.5% were younger than one year of age. The most common RACHS-1 category was 3 (35.5%). The mortality was 1.8%, 5.5%, 14.9%, 32.5% and 68.6% for category 1, 2, 3, 4 and 6, respectively. There was a significant increase in the number of surgeries (48%) and a significant reduction in the mortality in the last period analysed (13.3% in period I and 10.4% in period II; P=0.014). Conclusion: RACHS-1 score was a useful score for mortality risk in our service, although we are aware that other factors have an impact on the total mortality.

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ABSTRACT Introduction: Risk Adjustment for Congenital Heart Surgery 1 (RACHS-1) score is a simple model that can be easily applied and has been widely used for mortality comparison among pediatric cardiovascular services. It is based on the categorization of several surgical palliative or corrective procedures, which have similar mortality in the treatment of congenital heart disease. Objective: To analyze the in-hospital mortality in pediatric patients (<18 years) submitted to cardiac surgery for congenital heart disease based on RACHS-1 score, during a 12-year period. Methods: A retrospective date analysis was performed from January 2003 to December 2014. The survey was divided in two periods of six years long each, to check for any improvement in the results. We evaluated the numbers of procedures performed, complexity of surgery and hospital mortality. Results: Three thousand and two hundred and one surgeries were performed. Of these, 3071 were able to be classified according to the score RACHS-1. Among the patients, 51.7% were male and 47.5% were younger than one year of age. The most common RACHS-1 category was 3 (35.5%). The mortality was 1.8%, 5.5%, 14.9%, 32.5% and 68.6% for category 1, 2, 3, 4 and 6, respectively. There was a significant increase in the number of surgeries (48%) and a significant reduction in the mortality in the last period analysed (13.3% in period I and 10.4% in period II; P=0.014). Conclusion: RACHS-1 score was a useful score for mortality risk in our service, although we are aware that other factors have an impact on the total mortality.

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INTRODUCTION: Maturity-onset diabetes of the young (MODY) is a genetically heterogeneous form of diabetes mellitus, with autosomal dominant inheritance. It accounts for 2%-5% of all diabetes cases. Glucokinase-MODY is the second most frequent form, which has been shown to be the result of mutations in the glucokinase (GCK) gene. It mostly presents with mild hyperglycemia, and, usually, no diabetes-related complications occur. CASE REPORT: A 9-year-old female was admitted to the Endocrine Clinic to study her fasting hyperglycemia. Despite her obesity (body mass index 28 kg/m2), her physical examination had no other abnormalities. Blood tests showed a 6.3% hemoglobin A1c, with normal standard oral glucose tolerance test result, normal insulin value and normal C-peptide level. Insulin autoantibodies and antibodies against glutamate decarboxylase were negative. She began metformin and adequate diet. She had a strongly positive family history for diabetes. The patient's mother, uncle, grandfather, great-aunt and great-grandfather on her mother's side were diagnosed with diabetes. Complete sequencing of the GCK gene, carried out in the patient, identified a novel mutation c.1268T>A (p.Phe423Tyr) in exon 10 of the gene GCK in heterozygosity. Further studies revealed the same mutation in her mother and maternal grandfather. CONCLUSION: Finding the same mutation in three different generations of diabetic patients, in the same family, is highly suggestive of its pathogenicity. To the authors' knowledge, this is the first time it is described in the literature. Correct molecular diagnosis of MODY predicts better the clinical course of diabetes and facilitates individualised management.

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Vein of Galen malformations (VGM) are rare intracranial vascular anomalies that constitute 1% of all intracranial vascular malformations. Untreated VGM have a very poor prognosis. A high proportion of patients who present in the neonatal period rapidly deteriorate and succumb to congestive cardiac failure. The prenatal diagnosis and possible in utero referral to highly specialised centre of postnatal care have resulted in considerable improvement in prognosis. The authors present a case of a postnatally diagnosed VGM in a full-term infant presenting with progressive cardiac failure and necrotising enterocolitis secondary to gut hypoperfusion. They emphasise the importance of prenatal diagnosis by pulsed wave Doppler and colour-velocity imaging for subsequent referral to a centre of excellence in a multidisciplinary approach involving neonatologists, paediatric cardiologists and interventional radiologists in order to optimise the management and limit the neurological sequelae in children with this type of malformation.

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INTRODUCTION: Eosinophilic Esophagitis has been increasingly diagnosed and results from a chronic esophagic inflammation with eosinophilic infiltrate. MATERIAL AND METHODS: Evaluation of the diagnosed paediatric cases in our centre between 2004 and 2008 and revision of current literature on this subject. RESULTS: Four caucasian boys, aged eight to fifteen years old, were diagnosed with Eosinophilic Esophagitis. They presented with disphagia and food impaction and endoscopic findings included multiple concentric rings (pseudo-trachea pattern) and friable mucosa. All of them had mucosal eosinophil counts higher than 20 eosinophils/high-powered field and were given corticosteroids, either topic or systemic (one case) with therapeutic success. DISCUSSION: The diagnosis of Eosinophilic Esophagitis must be considered in presence of disphagia, food impaction or gastroesophageal reflux symptoms refractory to treatment. Endoscopic evaluation may be normal and the diagnosis is based on histological findings, making biopsy mandatory whenever clinically suspected. The increasing incidence of the last years associated with the high recurrence rate will lead to future prevalence increased both in child and adulthood.

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INTRODUCTION: Pharyngitis is a very prevalent illness in the ambulatory care setting. Its diagnosis is a challenge, especially in the differentiation between the viric and streptococcal causes. MATERIALS AND METHODS: A formulary was made to register the clinical and laboratory data; a throat swab for culture was obtained from all the children who presented to the emergency department with sore throat and/or signs of pharyngitis/tonsillitis, for a period of three months (15th of April to 15th of July of 2006). The signs and symptoms, prescribed antibiotherapy and frequency of false diagnostics were evaluated and the clinical suspicion compared with the diagnosis by culture. RESULTS: 158 children were evaluated, with a median age of four years, with a male predominance (56%). The period that showed the greatest number of cases was the first fifteen days of May. Forty-three percent of the cultures were positive for Streptococcus pyogenes. The more frequent signs and symptoms in pharyngitis were pharyngeal erythema (98%), fever (86%) and sore throat (78%). A significative statistical difference was found for cough, scarlatiniform rash, tonsillar exudate, palatal petechiae and tonsillar swelling. Of the signs and symptoms studied, only three of them presented a positive predictive value superior to 50%: scarlatiniform rash (85%), palatal petechiae (63%) and cough (57%). The presence of tonsillar exudate had a positive predictive value for non-streptococcal pharyngitis of 70%. Fifty-three percent of the doctors considered streptococcal pharyngitis highly probable, and from this, 56% had a positive culture for Streptococcus. Those who considered a low probability, the culture was positive in 28%. There were 37% of false diagnosis. DISCUSSION: The distinction between streptococcal pharyngitis and non-streptococcal pharyngitis is not always correct when based on clinical characteristics. The use of diagnostic tests is important in order to avoid unnecessary antibiotherapy as well as to allow the correct use in the positive cases.

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