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Renovascular hypertension: a case with atypical neurological signs
Get PDFSecondary hypertension is the most frequent form of hypertension in children. Renovascular disease accounts for 5-10% of all childhood hypertension and should be suspected in the presence of severe hypertension found difficult to manage with medical therapy. Uncontrolled hypertension can lead to severe target organ damage. We describe the case of a 13-month-old baby boy with failure to thrive, recent muscular weakness of the lower extremities and irritability. Hypertension was detected and he was admitted to the paediatric intensive care unit with a refractory hypertensive emergency, despite multiple antihypertensive therapies. Bilateral renal artery stenosis was diagnosed through renal angiography and balloon dilation was performed, leading to lower blood pressure. He is currently withdrawing from antihypertensive medication, and slowly gaining weight and recovering from target organ damage. However, weakness of the lower extremities persists and he has been diagnosed with a neurogenic bladde
The Importance of Early Referral in Pediatric Acute Liver Failure
No full textINTRODUCTION:
Acute liver failure is a rare disorder associated to high morbidity and mortality despite survival improvement through liver transplantation. The importance of a multidisciplinary approach and early referral to a pediatric liver transplantation center were important conclusions of a national meeting in 2008, from which resulted an actuation consensus.
OBJECTIVES:
To characterize acute liver failure admissions in a Pediatric Intensive Care Unit of the portuguese pediatric livertransplantation center. To compare results before (A) and after (B) 2008.
MATERIAL AND METHODS:
Observational, retrospective study during a 20 year period (1994-2014).
INCLUSION CRITERIA:
age < 18 years old and acute liver failure (INR ≥ 2 without vitamin K response and hepatocellular necrosis). Children with previous liver disease were excluded.
RESULTS:
Fifty children were included, with median age of 24.5 months. The most common etiology under 2 years old was metabolic (34.6%) and above that age was infectious (29.2%). Forty six percent were submitted to liver transplantation and 78% of them survived. Overall mortality was 34%. Median referral time was 7 days in period A (n = 35) and 2 days in period B (n = 15; p = 0.006). Pediatric risk of mortality's median was 14.7 in period A and 6.5 in B (p = 0.019). Mortality was 37% vs 26% in periods A and B, respectively (p = 0.474).
DISCUSSION AND CONCLUSIONS:
Overall mortality was similar to the observed in other European centers. Liver transplantation is in fact the most effective therapeutic option. After 2008, there was a reduction in referral time and cases severity on admission; however, mortality has not reduced so far
Estimation of the collective ionizing dose in the Portuguese population for the years 2011 and 2012, due to nuclear medicine exams
Get PDFIn 2009-2010 a Portuguese consortium was created to implement the methodologies proposed by the Dose Datamed II (DDM2) project, aiming to collect data from diagnostic X-ray and nuclear medicine (NM) procedures, in order to determine the most frequently prescribed exams and the associated ionizing radiation doses for the Portuguese population. The current study is the continuation of this work, although it focuses only on NM exams for the years 2011 and 2012
Outcome Measures in Polymyalgia Rheumatica. A Systematic Review
Get PDFOBJECTIVE:
To identify the instruments used to assess polymyalgia rheumatica (PMR) in published studies.
METHODS:
A systematic literature review of clinical trials and longitudinal observational studies related to PMR, published from 1970 to 2014, was carried out. All outcome and assessment instruments were extracted and categorized according to core areas and domains, as defined by the OMERACT (Outcome Measures in Rheumatology) Filter 2.0.
RESULTS:
Thirty-five articles (3221 patients) were included: 12 randomized controlled trials (RCT); 3 nonrandomized trials; and 20 observational studies. More than 20 domains were identified, measured by 29 different instruments. The most frequently used measures were pain, morning stiffness, patient global assessment and physician global assessment, erythrocyte sedimentation rate, and C-reactive protein. The definition of outcomes varied considerably between studies.
CONCLUSION:
The outcome measures and instruments used in PMR are numerous and diversely defined. The establishment of a core set of validated and standardized outcome measurements is needed
Glucocorticoid Therapy and Suicidal Behavior – a case report
Get PDFOs corticosteroides são medicamentos muito usados no alívio de sinais e sintomas derivados de muitas doenças, incluindo as inflamatórias e autoimunes, e são os anti-inflamatórios/imunossupressores mais frequentemente prescritos em todo o mundo. Contudo, os corticosteroides podem também induzir efeitos adversos significativos. Consequências neuropsiquiátricas graves, incluindo psicose, mania, depressão, delirium, compromisso cognitivo, suicídio e tentativa de suicídio têm sido reportadas. Estes efeitos adversos ocorrem em até 60% dos doentes sob corticoterapia.
Ainda assim, a previsão de tais efeitos é difícil, e os riscos variam com a idade, género, posologia, antecedentes psiquiátricos e alguns marcadores biológicos.
Apresentamos um caso clínico de um doente sem antecedentes psiquiátricos, que faz uma tentativa de suicídio durante o tratamento com corticosteroides, e realizamos uma revisão da literatura usando a base de dados PubMed.
A educação, tanto dos doentes quanto das suas famílias, acerca destes eventos adversos, e o aumento do nível de alerta por parte dos médicos acerca da sua ocorrência, poderá facilitar uma monitorização mais rigorosa. Quando a redução da dose de corticoterapia não for suficiente para o controlo da sintomatologia, será importante o tratamento sintomático com psicotrópicos.info:eu-repo/semantics/publishedVersio
Intrapelvic trauma by metallic wire: Surgical challenges faced
Get PDFIntroduction: Penetrating pelvic trauma is rare and presents as one of the most difficult challenges to trauma surgeons. Case Report: We present an unusual case of a 23-year-old male suffering a penetrating pelvic trauma by a projected metal wire. The wire was found in intrapelvic location, caused no internal organs injury and was safelyremoved using a Pfannenstiel extended approach.
Conclusion: Preoperative assessment of foreign body position is mandatory to set-up an efficient surgical procedure. The surgeon must have a profound knowledge of pelvic anatomy in order to choose the best option for the foreign body removal without any iatrogenic lesions.info:eu-repo/semantics/publishedVersio
Development of a clinical score system for the diagnosis of photoallergic contact dermatitis using a consensus process: item selection and reliability
No full textBACKGROUND:
Photoallergic contact dermatitis (PACD) is an uncommon condition, and there is a lack of validated criteria for its diagnosis.
OBJECTIVE:
To identify a set of relevant criteria to be considered when suspecting a diagnosis of PACD and to assess the reproducibility of these criteria.
METHODS:
This was a diagnostic item selection and reliability study performed between July 2012 and October 2012. A panel of seven recognized experts was invited to consecutive rounds of a Delphi survey and to a conclusive face-to-face meeting with the aim of obtaining an agreement on criteria for the diagnosis of PACD. The panel was also provided with a series of 16 reports of suspected PACDs to be classified according to a five-point likelihood scale. Identified criteria with the weights attributed by experts were used to develop a score system for the diagnosis of PACD. Consensus was measured by calculating the Intraclass Correlation Coefficient (ICC). The performance of the score system was evaluated in terms of overall classification accuracy.
RESULTS:
Seven criteria were identified by experts as relevant for the diagnosis of PACD. The criteria were related to the type of skin lesions, accompanying symptoms, skin area involved, general medical history, modality of exposure to the culprit substance, history of exposure to the sun or other light sources and photopatch test results. Experts reached a moderate agreement on PACD cases classification, with ICC = 0.69 (95% Confidence Interval, CI, 0.50-0.86). The score system enabled discrimination of probable and definite PACD cases from possible and unlikely or excluded ones, with a nearly perfect agreement being observed between the score system classification and judgment by experts.
CONCLUSION:
A diagnostic score was proposed. The score should receive a comprehensive validation on a larger series of cases and with multiple evaluators
New combined CFH/MCP mutations and a rare clinical course in atypical haemolytic uraemic syndrome
Get PDFAtypical haemolytic uraemic syndrome (aHUS) is a rare, life-threatening, chronic, genetic disease due to uncontrolled alternative pathway complement activation. In this report, we discuss the case of a heterozygous carrier of a mutation on both factor H and membrane cofactor protein, who persistently presents haemolytic anaemia without need for blood transfusions, normal platelet count, normal renal function and no signs or symptoms of organ injury due to thrombotic microangiopathy 4 years after the diagnosis of aHUS.info:eu-repo/semantics/publishedVersio
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform
Get PDFOBJECTIVE:
To determine the prevalence of fibroblast growth factor receptor 1 (FGFR1) mutations and their predicted functional consequences in patients with idiopathic hypogonadotropic hypogonadism (IHH).
DESIGN:
Cross-sectional study.
SETTING:
Multicentric.
PATIENT(S):
Fifty unrelated patients with IHH (21 with Kallmann syndrome and 29 with normosmic IHH).
INTERVENTION(S):
None.
MAIN OUTCOME MEASURE(S):
Patients were screened for mutations in FGFR1. The functional consequences of mutations were predicted by in silico structural and conservation analysis.
RESULT(S):
Heterozygous FGFR1 mutations were identified in six (12%) kindreds. These consisted of frameshift mutations (p.Pro33-Alafs*17 and p.Tyr654*) and missense mutations in the signal peptide (p.Trp4Cys), in the D1 extracellular domain (p.Ser96Cys) and in the cytoplasmic tyrosine kinase domain (p.Met719Val). A missense mutation was identified in the alternatively spliced exon 8A (p.Ala353Thr) that exclusively affects the D3 extracellular domain of FGFR1 isoform IIIb. Structure-based and sequence-based prediction methods and the absence of these variants in 200 normal controls were all consistent with a critical role for the mutations in the activity of the receptor. Oligogenic inheritance (FGFR1/CHD7/PROKR2) was found in one patient.
CONCLUSION(S):
Two FGFR1 isoforms, IIIb and IIIc, result from alternative splicing of exons 8A and 8B, respectively. Loss-of-function of isoform IIIc is a cause of IHH, whereas isoform IIIb is thought to be redundant. Ours is the first report of normosmic IHH associated with a mutation in the alternatively spliced exon 8A and suggests that this disorder can be caused by defects in either of the two alternatively spliced FGFR1 isoform
Estimating glomerular filtration rate in acute coronary syndromes: Different equations, different mortality risk prediction
Get PDFAIMS:
Renal dysfunction is a powerful predictor of adverse outcomes in patients hospitalized for acute coronary syndrome. Three new glomerular filtration rate (GFR) estimating equations recently emerged, based on serum creatinine (CKD-EPIcreat), serum cystatin C (CKD-EPIcyst) or a combination of both (CKD-EPIcreat/cyst), and they are currently recommended to confirm the presence of renal dysfunction. Our aim was to analyse the predictive value of these new estimated GFR (eGFR) equations regarding mid-term mortality in patients with acute coronary syndrome, and compare them with the traditional Modification of Diet in Renal Disease (MDRD-4) formula.
METHODS AND RESULTS:
801 patients admitted for acute coronary syndrome (age 67.3±13.3 years, 68.5% male) and followed for 23.6±9.8 months were included. For each equation, patient risk stratification was performed based on eGFR values: high-risk group (eGFR<60ml/min per 1.73m2) and low-risk group (eGFR⩾60ml/min per 1.73m2). The predictive performances of these equations were compared using area under each receiver operating characteristic curves (AUCs). Overall risk stratification improvement was assessed by the net reclassification improvement index. The incidence of the primary endpoint was 18.1%. The CKD-EPIcyst equation had the highest overall discriminate performance regarding mid-term mortality (AUC 0.782±0.20) and outperformed all other equations (ρ<0.001 in all comparisons). When compared with the MDRD-4 formula, the CKD-EPIcyst equation accurately reclassified a significant percentage of patients into more appropriate risk categories (net reclassification improvement index of 11.9% (p=0.003)). The CKD-EPIcyst equation added prognostic power to the Global Registry of Acute Coronary Events (GRACE) score in the prediction of mid-term mortality.
CONCLUSION:
The CKD-EPIcyst equation provides a novel and improved method for assessing the mid-term mortality risk in patients admitted for acute coronary syndrome, outperforming the most widely used formula (MDRD-4), and improving the predictive value of the GRACE score. These results reinforce the added value of cystatin C as a risk marker in these patients