Diagnosic Classification: Results from a Clinical Experience of Three Years with DC: 0–3

Infancy and early childhood are characterized by a dynamic and ever changing process. Since the beginning of their clinical work at the Infancy Unit, the authors were concerned with individual assessment and the questions about the role played by parents as well as by babies in pathology and intervention.In this article, the authors begin with a description of the path that led them to the selection of DC 0–3 as a diagnostic classification system and how this has been instrumental in helping them to better define infant psychopathology and guide them in treatment orientations. Next, they present the results of the applicationof Axis I and II of DC: 0–3 in their clinical population in the years 1997, 1998, and 1999. The objectives of this study were to learn more about the distribution of mental disorders in a clinical population up tofour years of age. The authors attempted to separate infants at risk for developing psychic disorders from those presenting current psychopathology as well as the possible influence of demographic features on this distribution, to define a target population and design adapted therapeutic measures. The identification of these objectives provides the rationale for the use of a diagnostic tool, like DC: 0–3, which is essential to plan clinical activity, to evaluate therapeutic efficacy, and to develop specific programs.

Clinical and Bacteriological Survey of Diabetic Foot Infections in Lisbon

AIMS: An epidemiological survey of diabetic foot infections (DFIs) in Lisbon, stratifying the bacterial profile based on patient demographical data, diabetic foot characteristics (PEDIS classification), ulcer duration and antibiotic therapy. METHODS: A transversal observational multicenter study, with clinical data collection using a structured questionnaire and microbiological products (aspirates, biopsies or swabs collected using the Levine method) of clinically infected foot ulcers of patients with diabetes mellitus (DM). RESULTS: Forty-nine hospitalized and ambulatory patients were enrolled in this study, and 147 microbial isolates were cultured. Staphylococcus was the main genus identified, and methicillin-resistant Staphylococcus aureus (MRSA) was present in 24.5% of total cases. In the clinical samples collected from patients undergoing antibiotic therapy, 93% of the antibiotic regimens were considered inadequate based on the antibiotic susceptibility test results. The average duration of an ulcer with any isolated multi-drug resistant (MDR) organism was 29 days, and previous treatment with fluoroquinolones was statistically associated with multi-drug resistance. CONCLUSIONS: Staphylococcus aureus was the most common cause of DFIs in our area. Prevalence and precocity of MDR organisms, namely MRSA, were high and were probably related to previous indiscriminate antibiotic use. Clinicians should avoid fluoroquinolones and more frequently consider the use of empirical anti-MRSA therapy.

Clinical Outcome and Morphologic Analysis after Endovascular Aneurysm Repair Using the Excluder Endograft

OBJECTIVE: Long-term follow-up after endovascular aneurysm repair (EVAR) is very scarce, and doubt remains regarding the durability of these procedures. We designed a retrospective cohort study to assess long-term clinical outcome and morphologic changes in patients with abdominal aortic aneurysms (AAAs) treated by EVAR using the Excluder endoprosthesis (W. L. Gore and Associates, Flagstaff, Ariz). METHODS: From 2000 to 2007, 179 patients underwent EVAR in a tertiary institution. Clinical data were retrieved from a prospective database. All patients treated with the Excluder endoprosthesis were included. Computed tomography angiography (CTA) scans were retrospectively analyzed preoperatively, at 30 days, and at the last follow-up using dedicated tridimensional reconstruction software. For patients with complications, all remaining CTAs were also analyzed. The primary end point was clinical success. Secondary end points were freedom from reintervention, sac growth, types I and III endoleak, migration, conversion to open repair, and AAA-related death or rupture. Neck dilatation, renal function, and overall survival were also analyzed. RESULTS: Included were 144 patients (88.2% men; mean age, 71.6 years). Aneurysms were ruptured in 4.9%. American Society of Anesthesiologists classification was III/IV in 61.8%. No patients were lost during a median follow-up of 5.0 years (interquartile range, 3.1-6.4; maximum, 11.2 years). Two patients died of medical complications ≤ 30 days after EVAR. The estimated primary clinical success rates at 5 and 10 years were 63.5% and 41.1%, and secondary clinical success rates were 78.3% and 58.3%, respectively. Sac growth was observed in 37 of 142 patients (26.1%). Cox regression showed type I endoleak during follow-up (hazard ratio, 3.74; P = .008), original design model (hazard ratio, 3.85; P = .001), and preoperative neck diameter (1.27 per mm increase, P = .006) were determinants of sac growth. Secondary interventions were required in 32 patients (22.5%). The estimated 10-year rate of AAA-related death or rupture was 2.1%. Overall life expectancy after AAA repair was 6.8 years. CONCLUSIONS: EVAR using the Excluder endoprosthesis provides a safe and lasting treatment for AAA, despite the need for maintained surveillance and secondary interventions. At up to 11 years, the risk of AAA-related death or postimplantation rupture is remarkably low. The incidences of postimplantation sac growth and secondary intervention were greatly reduced after the introduction of the low-permeability design in 2004.

Clinical Outcomes and Genetic Expression Profile in Human Liver Graft Dysfunction During Ischemia/Reperfusion Injury

Introduction. This study aims to compare the molecular gene expression during ischemia reperfusion injury. Several surgical times were considered: in the beginning of the harvesting (T0), at the end of the cold ischemia period (T1), and after reperfusion (T2) and compared with graft dysfunction after liver transplant (OLT). Methods. We studied 54 patients undergoing OLT. Clinical, laboratory data, and histologic data (Suzuki classification) as well as the Survival Outcomes Following Liver Transplantation (SOFT) score were used and compared with the molecular gene expression of the following genes: Interleukin (IL)-1b, IL-6, tumor necrosis factor-a, perforin, E-selectin (SELE), Fas-ligand, granzyme B, heme oxygenase-1, and nitric oxide synthetase. Results. Fifteen patients presented with graft dysfunction according to SOFT criteria. No relevant data were obtained by comparing the variables graft dysfunction and histologic variables. We observed a statistically significant relation between SELE at T0 (P ¼ .013) and IL-1b at T0 (P ¼ .028) and early graft dysfunction. Conclusions. We conclude that several genetically determined proinflammatory expressions may play a critical role in the development of graft dysfunction after OLT.

Cerebral Sinovenous Thrombosis in Children: Clinical Presentation and Extension, Localization and Recanalization of Thrombosis

Many important questions regarding pathophysiology and treatment of cerebral sinovenous thrombosis need clarification and may depend on further knowledge on the etiology, site, extension and recanalization of the thrombosis. We studied these variables in a cohort of children and adolescents from seven Portuguese Centers. We conclude from our results that the deep venous system and the superior longitudinal sinus are less frequently affected with thrombosis but have a greater potential for serious neurologic disease and for major sequelae. Non-recanalization, at least in the long term, is not an adverse prognostic factor. Extensive propagation of the thrombus from the initial site of origin seems to be common. The early identification of risk factors and their treatment coupled with an aggressive attitude towards diagnosis and treatment for thrombosis involving the deep venous system would be warranted.

Propriedades Psicométricas da Versão Portuguesa do Kansas City Cardiomyopathy Questionnaire na Miocardiopatia Dilatada com Insuficiência Cardíaca Congestiva

Several studies have shown that patients with congestive heart failure (CHF) have a compromised health-related quality of life (HRQL), and this, in recent years, has become a primary endpoint when considering the impact of treatment of chronic conditions such as CHF. OBJECTIVES: To evaluate the psychometric properties of the Portuguese version of a new specific instrument to measure HRQL in patients hospitalized for CHF: the Kansas City Cardiomyopathy Questionnaire (KCCQ). METHODS: The KCCQ was applied to a sample of 193 consecutive patients hospitalized for CHF. Of these, 105 repeated the assessment 3 months after admission, with no events during this period. Mean age was 64.4 +/- 12.4 years (21-88), and 72.5% were 72.5% male. CHF was of ischemic etiology in 4% of cases. RESULTS: This version of the KCCQ was subjected to statistical validation, with assessment of reliability and validity, similar to the American version. Reliability was assessed by the internal consistency of the domains and summary scores, which showed similar values of Cronbach alpha (0.50-0.94). Validity was assessed by convergence, sensitivity to differences between groups and sensitivity to changes in clinical condition. We evaluated the convergent validity of all domains related to functionality, through the relationship between them and a measure of functionality, the New York Heart Association (NYHA) classification. Significant correlations were found (p < 0.01) for this measure of functionality i patients with CHF. Analysis of variance between the physical limitation domain, the summary scores and NYHA class was performed and statistically significant differences were found (F = 23.4; F = 36.4; F = 37.4, p = 0.0001) in the ability to discriminate severity of clinical condition. A second evaluation was performed on 105 patients at the 3-month follow-up outpatient appointment, and significant changes were observed in the mean scores of the domains assessed between hospital admission and the clinic appointment (differences from 14.9 to 30.6 on a scale of 0-100), indicating that the domains assessed are sensitive to changes in clinical condition. The correlation between dimensions of quality of life in the KCCQ is moderate, suggesting that the dimensions are independent, supporting the multifactorial nature of HRQL and the suitability of this measure for its evaluation. CONCLUSION: The KCCQ is a valid instrument, sensitive to change and a specific measure of HRQL in a population with dilated cardiomyopathy and CHF.

Bases Clínicas e Laboratoriais para o Diagnóstico e Compreensão das Doenças Metabólicas Neonatais

The authors divide neonatal metabolic diseases into two major groups: intoxication and energy deficiency. The main signs which allow for the suspicion of the diagnosis are indicated for each group. The complementary examinations to be carried out by the Clinical Pathology Service of the Central Hospital and those which must be carried out by the metabolic diseases Reference Centre are reviewed. Based on the clinical framework and on the examination results, the authors establish five syndromatic groups to orientate diagnosis. The authors conclude by presenting differential diagnosis tables based on the original systematic classification by Jean-Marie Saudubray, with up-dated modifications from their own experience.

Dilated Cardiomyopathy. New Therapeutic Approach

Inflammatory reaction has been associated with dilated cardiomyopathy. In this context, cardiac autoantibodies and inflammatory cell infiltration have been studied during the last two decades towards the understanding of their origin and the underlying pathogenic mechanisms. Recent research has increasingly focused on the development of an etiological therapeutic approach. Immunoadsorption has shown to improve clinical, echocardiographic, haemodynamic and laboratory parameters in patients with inflammatory dilated cardiomyopathy. In this article we review recent literature concerning this subject, including classification, pathophysiological mechanisms and therapy.

A Rare Variation of the Extensor Indicis Proprius Tendon With Important Clinical Implications

Introduction: Anatomical variations of the extensor tendons to the fingers are of great clinical interest, due to the relatively high frequency of tendon injury in clinical practice. Material and methods: During routine dissection of the right upper limb of a 67-year-old female preserved corpse, the extensor indicis proprius (EIP) muscle belly originated 3 independent tendons, each with a separate fascial sheath, forming a triple EIP tendon. There was a larger tendon, which occupied a central position, that represented the usual single EIP tendon. In addition, there were two thinner radial and ulnar accessory EIP tendons. The radial-EIP tendon crossed deep to the extensor digitorum communis (EDC) tendon to the index finger in the distal half of the dorsum of the hand to reach the radial side of the extensor expansion hood of the index finger. Discussion: According to the literature, the frequency of a triple EIP tendon ranges from 0%, to as high as 7%, although most authors do not acknowledge the presence of this variant in their series. This variant of the EIP tendon, in which the radial-EIP terminated laterally to the termination of the tendon of the EDC to the index finger, may be a source of confusion intraoperatively, as the EIP tendon has traditionally been identified on the basis of its ulnar location with respect to the EDC tendon. Conclusion: The possibility of a triple EIP tendon should certainly be born in mind by all surgeons when performing tendon repairs, tenoplasties or tendon transfers.

Intraepidermal Epidermotropic Metastatic Melanoma: a Clinical and Histopathological Mimicker of Melanoma in Situ Occurring in Multiplicity

The distinction between primary melanoma and melanoma metastatic to the skin has major prognostic implications. We report a case of a 67-year-old male with a diagnosis of a superficial spreading melanoma (stage IB) rendered 6 years earlier who presented clinically with an atypical nevus on his left thigh. Histopathological examination showed an intraepidermal melanocytic proliferation that was interpreted as melanoma in situ. Subsequently, 45 additional pigmented macules appeared in crops over a 9-month period. Clinically and dermoscopically, these lesions were extremely polymorphic. Histopathological findings were compatible with melanoma in situ, as each lesion consisted of a wholly intraepidermal proliferation of markedly atypical melanocytes arranged singly and in nests. A complete gastrointestinal study showed multiple pigmented metastatic lesions throughout the stomach and small bowel, which supported a diagnosis of metastatic melanoma with gastrointestinal and epidermotropic skin involvement. Monosomy of chromosome 9 and a BRAF V600E mutation were detected in the primary tumor sample and in macro-dissected secondary lesions. No CDKN2A or CDK4 germline mutations were found. Intraepidermal epidermotropic metastases of melanoma have been rarely described in literature. In this case, histopathology alone was insufficient to distinguish metastatic melanoma from multiple in situ melanomas. The recognition of epidermotropic metastases should be based on the correlation between clinical, dermoscopic, histopathological and molecular findings.

Infecções Urinárias e Gravidez - Diagnóstico, Terapêutica e Prevenção

Objectives: Literature review of classification, epidemiology, pathophysiology, microbiology, clinical presentation, diagnosis, complications, treatment and prevention of urinary tract infections (UTI) in pregnancy. Data Sources and Review Methods: Bibliographic research in Medline, through PubMed and Medscape, of systematic reviews, observational studies, clinical guidelines, meta-analyses and randomized controlled trials published between January 1992 and December 2010. Results: Asymptomatic bacteriuria occurs in 2 to 10% of pregnant women, 30% of which will develop acute pyelonephritis if left untreated. Treatment of asymptomatic bacteriuria has been shown to reduce the risk of pyelonephritis in pregnancy. Therefore, screening and treatment of this form of UTI has become a standard of obstetrical care, although the ideal duration of the treatment is still controverse. Acute pyelonephritis is one of the most common medical complications of pregnancy and may be associated with maternal, obstetric and perinatal complications. There is no clear consensus in the literature regarding antibiotic choice or duration of therapy for symptomatic UTI. Increasing antibiotic resistance complicates the choice of empirical regimens and local resistance rates need to be taken into account when deciding the therapy. Considering the high rate of recurrence of UTI during pregnancy, prophylactic measures need to be taken in pregnant women who have already experienced UTI during their current pregnancy. Conclusions: Although UTI is a generally benign condition in non-pregnant women, it may be a potentially serious complication during pregnancy. Early diagnosis and treatment of UTI during pregnancy are mandatory and can prevent severe maternal and perinatal complications.

Zero-Time Kidney Histology Predicts Early Graft Function

Our purposes are to determine the impact of histological factors observed in zero-time biopsies on early post transplant kidney allograft function. We specifically want to compare the semi-quantitative Banff Classification of zero time biopsies with quantification of % cortical area fibrosis. Sixty three zero-time deceased donor allograft biopsies were retrospectively semiquantitatively scored using Banff classification. By adding the individual chronic parameters a Banff Chronic Sum (BCS) Score was generated. Percentage of cortical area Picro Sirius Red (%PSR) staining was assessed and calculated with a computer program. A negative linear regression between %PSR/ GFR at 3 year post-transplantation was established (Y=62.08 +-4.6412X; p=0.022). A significant negative correlation between arteriolar hyalinosis (rho=-0.375; p=0.005), chronic interstitial (rho=0.296; p=0.02) , chronic tubular ( rho=0.276; p=0.04) , chronic vascular (rho= -0.360;P=0.007), BCS (rho=-0.413; p=0.002) and GFR at 3 years were found. However, no correlation was found between % PSR, Ci, Ct or BCS. In multivariate linear regression the negative predictive factors of 3 years GFR were: BCS in histological model; donor kidney age, recipient age and black race in clinical model. The BCS seems a good and easy to perform tool, available to every pathologist, with significant predictive short-term value. The %PSR predicts short term kidney function in univariate study and involves extra-routine and expensive-time work. We think that %PSR must be regarded as a research instrument.

Impact of RIFLE Classification in Liver Transplantation

Acute renal failure (ARF) is common after orthotopic liver transplantation (OLT). The aim of this study was to evaluate the prognostic value of RIFLE classification in the development of CKD, hemodialysis requirement, and mortality. Patients were categorized as risk (R), injury (I) or failure (F) according to renal function at day 1, 7 and 21. Final renal function was classified according to K/DIGO guidelines. We studied 708 OLT recipients, transplanted between September 1992 and March 2007; mean age 44 +/- 12.6 yr, mean follow-up 3.6 yr (28.8% > or = 5 yr). Renal dysfunction before OLT was known in 21.6%. According to the RIFLE classification, ARF occurred in 33.2%: 16.8% were R class, 8.5% I class and 7.9% F class. CKD developed in 45.6%, with stages 4 or 5d in 11.3%. Mortality for R, I and F classes were, respectively, 10.9%, 13.3% and 39.3%. Severity of ARF correlated with development of CKD: stage 3 was associated with all classes of ARF, stages 4 and 5d only with severe ARF. Hemodialysis requirement (23%) and mortality were only correlated with the most severe form of ARF (F class). In conclusion, RIFLE classification is a useful tool to stratify the severity of early ARF providing a prognostic indicator for the risk of CKD occurrence and death.

Clinical and Pathological Findings in Women with Fabry Disease

Introduction. Fabry disease is a rare metabolic disorder caused by the genetic deficiency of the lysosomal hydrolase alpha-galactosidase A, located on chromosome X. Females with the defective gene are more than carriers and can develop a wide range of symptoms. Nevertheless, disease symptoms generally occur later and are less severe in women than in men. The enzyme deficiency manifests as a glycosphingolipidosis with progressive accumulation of glycosphingolipids and deposit of inclusion bodies in lysosomes giving a myelinlike appearance. Patients and Methods. Records of renal biopsies performed on adults from 1st January 2008 to 31st August 2011, were retrospectively examined at the Renal Pathology Laboratory. We retrieved biopsies diagnosed with Fabry disease and reviewed clinical and laboratory data and pathology findings. Results. Four female patients with a mean age of 49.3±4.5 (44-55) years were identified. The mean proteinuria was 0.75±0.3 g/24h (0.4-1.2) and estimated glomerular filtration rate (CKD EPI equation) was 71±15.7 ml/min/1.73m2 (48-83). Three patients experienced extra-renal organ involvement (cerebrovascular, cardiac, dermatologic, ophthalmologic and thyroid) with distinct severity degrees. Leukocyte α-GAL A activity was below normal range in the four cases but plasma and urinary enzymatic activity was normal. Light microscopy showed predominant vacuolisation of the podocyte cytoplasm and darkly staining granular inclusions on paraffin and plastic-embedded semi-thin sections. Electron microscopy showed in three patients the characteristic myelin-like inclusions in the podocyte cytoplasm and also focal podocyte foot process effacement. In one case the inclusions were also present in parietal glomerular cells, endothelial cells of peritubular capillary and arterioles. Conclusion. Clinical signs and symptoms are varied and can be severe among heterozygous females with Fabry disease. Intracellular accumulation of glycosphingolipids is a characteristic histologic finding of Fabry nephropathy. Since this disease is a potentially treatable condition, its early identification is imperative. We should consider it in the differential diagnosis of any patient presenting with proteinuria and/or chronic kidney disease, especially if there is a family history of kidney disease.