Early Infantil Krabbe Disease with Unusual Survival

Introduction: Globoid cell leukodystrophy (Krabbe disease) is caused by a deficiency of the lysosomal galactocerebrosidase that results in progressive demyelination. The sole treatment is hematopoietic cell transplantation, which is only effective if performed before the onset of signs. In the absence of treatment, most children with early infantile Krabbe disease die within 2 years. Case Report: Female patient, first child of non-consanguineous parents, apparently normal till the fifth month of age when she presented with irritability, stiffness with clenched fists, developmental delay and feeding difficulties that progressed rapidly to failure to thrive, apathy, psychomotor regression, few spontaneous movements and spastic tetraparesis. Cerebral MRI showed extensive cerebral white matter abnormalities, relatively sparing the U-fibers, with a pattern of radiating stripes. Galactocerebrosidase activity in leukocytes and fibroblasts and molecular studies confirmed the diagnosis of Krabbe disease. After the rapid and regressive initial phase, she showed no further clinical progression of the disorder and although she did not grow she even showed regression of irritability and had a stable evolution and good visual contact until death over the age of 5 years. Comments: Our case shows that patients may have a stabilized form of disease and that a longer survival than described in the literature without transplant is possible in some patients.

Early diagnosis of relapse in borderline leprosy: two case reports

Two cases of relapse in borderline leprosy were reported. Despite the late-reversal, reaction-like feature, the suspicion of relapse in both was based on persistent and slow-developing skin lesions and an absence of acute neuritis or reaction during one year of follow-up. The authors have considered this possible occurrence in lepromatous borderline-treated patients after their immune cellular restoration and defend that not all Type 1 reactions would be an inflammatory answer to persistent Mycobacterium leprae, but that they could be. Therefore, a relapse diagnosis could be applied and it is more advisable, as one year of Multi-Drug Therapy (MDT) is less dangerous and more efficient for these cases than one year of corticosteroids.

Focal Malignant Liver Lesions: Diagnosis by Dynamic Incremental CT, Early Phase

The purpose of our study was to evaluate the accuracy of dynamic incremental bolus-enhanced conventional CT (DICT) with intravenous contrast administration, early phase, in the diagnosis of malignancy of focal liver lesions. A total of 122 lesions were selected in 74 patients considering the following criteria: lesion diameter 10 mm or more, number of lesions less than six per study, except in multiple angiomatosis and the existence of a valid criteria of definitive diagnosis. Lesions were categorized into seven levels of diagnostic confidence of malignancy compared with the definitive diagnosis for acquisition of a receiver-operator-characteristic (ROC) curve analysis and to determine the sensitivity and specificity of the technique. Forty-six and 70 lesions were correctly diagnosed as malignant and benign, respectively; there were 2 false-positive and 4 false-negative diagnoses of malignancy and the sensitivity and specificity obtained were 92 and 97%. The DICT early phase was confirmed as a highly accurate method in the characterization and diagnosis of malignancy of focal liver lesions, requiring an optimal technical performance and judicious analysis of existing semiological data.

THE SCHISTOSOMULA TEGUMENT ANTIGEN AS A POTENTIAL CANDIDATE FOR THE EARLY SEROLOGICAL DIAGNOSIS OF SCHISTOSOMIASIS MANSONI

If Schistosoma mansoni infection could be detected in its early stages, especially before the egg deposition in the host tissues, the development of severe pathologic lesions could be efficiently prevented. We therefore developed an indirect enzyme-linked immunosorbent assay based on the detection of specific IgG against schistosomula antigens (ELISA-SmTeg). The assay was applied in sera samples from non-infected and infected mice collected seven and 15 days post-infection. The results were compared to the number of adult worms obtained by perfusion of the murine hepatic system 50 days post-infection. The sensitivity and specificity of the ELISA-SmTeg were 100% (p = 0.0032 and 0.0048 respectively for seven and 15 days of infection) with a cutoff value of 0.15 (p = 0.0002). Our findings show a novel low-cost serological assay using antigens which are easy to obtain, which was able to detect all the infected mice as early as seven days post-infection.

Evaluation of the ELISA-F29 test as an early marker of therapeutic efficacy in adults with chronic Chagas disease

This work compared the time at which negative seroconversion was detected by conventional serology (CS) and by the ELISA-F29 test on a cohort of chronic chagasic patients treated with nifurtimox or benznidazole. A retrospective study was performed using preserved serum from 66 asymptomatic chagasic adults under clinical supervision, and bi-annual serological examinations over a mean follow-up of 23 years. Twenty nine patients received trypanocide treatment and 37 remained untreated. The ELISA-F29 test used a recombinant antigen which was obtained by expressing the Trypanosoma cruzi flagellar calcium-binding protein gene in Escherichia coli. Among the untreated patients, 36 maintained CS titers. One patient showed a doubtful serology in some check-ups. ELISA-F29 showed constant reactivity in 35 out of 37 patients and was negative for the patient with fluctuating CS. The treated patients were divided into three groups according to the CS titers: in 13 they became negative; in 12 they decreased and in four they remained unchanged. ELISA-F29 was negative for the first two groups. The time at which negativization was detected was significantly lower for the ELISA-F29 test than for CS, 14.5 ± 5.7 and 22 ± 4.9 years respectively. Negative seroconversion was observed in treated patients only. The results obtained confirm that the ELISA-F29 test is useful as an early indicator of negative seroconversion in treated chronic patients.

EXPERIMENTAL INFECTION WITH Toxocara cati IN PIGS: MIGRATORY PATTERN AND PATHOLOGICAL RESPONSE IN EARLY PHASE

Experimental inoculations of approximately 100,000 infective Toxocara cati larval eggs were done in twelve pigs. The T. cati eggs used for inoculation were collected from cat's feces. Another group of three pigs served as an uninfected control. Groups of infected pigs were euthanized at seven, 14, 21, and 28 days post-inoculation (dpi). Tissue samples were taken for digestion and histopathology changes in early phase. The number of larvae recovered from the lungs peaked at seven and 14 dpi and were also present at 21, and 28 dpi. Larvae of T. cati were present in the lymph nodes of the small and large intestine at seven, 14, and 28 dpi and at seven, 14, 21, and 28 dpi respectively. In other studied tissues, no larvae or less than one larva per gram was detected. The pathological response observed in the liver and lungs at seven and 14 dpi, showed white spots on the liver surface and areas of consolidation were observed in the lungs. The lungs showed an inflammatory reaction with larvae in center at 28 dpi. In the liver we observed periportal and perilobular hepatitis. The lymph nodes of the intestines displayed eosinophil lymphadenitis with reactive centers containing parasitic forms in some of them. The granulomatous reaction was not observed in any tissues. The role of the other examined tissues had less significance. The relevance of this parasite as an etiological agent that leads to disease in paratenic hosts is evident.

The Role of Sensory Modulation Deficits and Behavioral Symptoms in a Diagnosis for Early Childhood

To contribute to the validation of the sensory and behavioral criteria for Regulation Disorders of Sensory Processing (RDSP) (DC:0-3R, 2005), this study examined a sample of toddlers in a clinical setting to analyze: (1) the severity of sensory modulation deficits and the behavioral symptoms of RDSP; (2) the associations between sensory and behavioral symptoms; and (3) the specific role of sensory modulation deficits in an RDSP diagnosis. Based on clinical observations, 78 toddlers were classified into two groups: toddlers with RDSP (N = 18) and those with‘‘other diagnoses in Axis I/II of the DC:0-3R’’ (OD3R; N = 60). The parents completed the Infant Toddler Sensory Profile and the Achenbach Checklist. The results revealed that the RDSP group had more severe sensory modulation deficits and specific behavioral symptoms; stronger, although not significant, associations between most sensory and behavioral symptoms; and a significant sensory modulation deficit effect. These findings support the validity of RDSP.

Analysis of the Generators of Epileptic Activity in Early-Onset Childhood Benign Occipital Lobe Epilepsy

Objective: The Panayiotopoulos type of idiopathic occipital epilepsy has peculiar and easily recognizable ictal symptoms, which are associated with complex and variable spike activity over the posterior scalp areas. These characteristics of spikes have prevented localization of the particular brain regions originating clinical manifestations. We studied spike activity in this epilepsy to determine their brain generators. Methods: The EEG of 5 patients (ages 7–9) was recorded, spikes were submitted to blind decomposition in independent components (ICs) and those to source analysis (sLORETA), revealing the spike generators. Coherence analysis evaluated the dynamics of the components. Results: Several ICs were recovered for posterior spikes in contrast to central spikes which originated a single one. Coherence analysis supports a model with epileptic activity originating near lateral occipital area and spreading to cortical temporal or parietal areas. Conclusions: Posterior spikes demonstrate rapid spread of epileptic activity to nearby lobes, starting in the lateral occipital area. In contrast, central spikes remain localized in the rolandic fissure. Significance: Rapid spread of posterior epileptic activity in the Panayitopoulos type of occipital lobe epilepsy is responsible for the variable and poorly localized spike EEG. The lateral occipital cortex is the primary generator of the epileptic activity.

Origin of Frontal Lobe Spikes in the Early Onset Benign Occipital Lobe Epilepsy (Panayiotopoulos Syndrome)

Objective: Early onset benign occipital lobe epilepsy (Panayiotopoulos syndrome [PS]) is a common and easily recognizable epilepsy. Interictal EEG spike activity is often multifocal but most frequently localized in the occipital lobes. The origin and clinical significance of the extra-occipital spikes remain poorly understood. Methods: Three patients with the PS and interictal EEG spikes with frontal lobe topography were studied using high-resolution EEG. Independent component analysis (ICA) was used to decompose the spikes in components with distinct temporal dynamics. The components were mapped in the scalp with a spline-laplacian algorithm. Results: The change in scalp potential topography from spike onset to peak, suggests the contribution of several intracranial generators, with different kinetics of activation and significant overlap. ICA was able to separate the major contributors to frontal spikes and consistently revealed an early activating group of components over the occipital areas in all the patients. The local origin of these early potentials was established by the spline-laplacian montage. Conclusions: Frontal spikes in PS are consistently associated with early and unilateral occipital lobe activation, suggesting a posteroanterior spike propagation. Significance: Frontal spikes in the PS represent a secondary activation triggered by occipital interictal discharges and do not represent an independent focus.

Os Modos de Entrada em Mercados Internacionais das Empresas da Região do Tâmega e Sousa

Dissertação de Mestrado em Gestão e Internacionalização de Empresas

Myomectomy in Early Pregnancy - A Case Report

Uterine leiomyomas are by far the most common benign tumours of the female genital tract. The true incidence of leiomyomas during pregnancy is, however, unknown. Although leiomyomas usually remain asymptomatic during pregnancy, they may complicate its course. The management of leiomyoma during pregnancy is medical, but, in rare circumstances, surgical intervention and myomectomy may be required. A case of myomectomy in early pregnancy is described.

Prophylactic Use of Liposomal Amphotericin B in Preventing Fungal Infections Early After Liver Transplantation: a Retrospective, Single-Center Study

In this study the authors evaluated the efficacy of prophylaxis with liposomal amphotericin B (L-AmB) in the incidence of fungal infections (FI) during the first 3 months after liver transplant (LT). The study was retrospective and accessed a 4-year period from 2008 to 2011. All patients who died in the first 48 hours after LT were excluded. Patients were divided by the risk groups for FI: Group 1, high-risk (at least 1 of the following conditions: urgent LT; serum creatinine >2 mg/dL; early acute kidney injury [AKI] after LT; retransplantation; surgical exploration early post-LT; transfused cellular blood components [>40 U]); and Group 2, low-risk patients. Group 1 patients were further separated into those who received antifungal prophylaxis with L-AmB and those who did not. Prophylaxis with L-AmB consisted of intravenous administration of L-AmB, 100 mg daily for 14 days. Four hundred ninety-two patients underwent LT; 31 died in the first 48 hours after LT. From the remaining 461 patients, 104 presented with high-risk factors for FI (Group 1); of these, 66 patients received antifungal prophylaxis and 38 did not. In this group 8 FI were observed, 5 in patients without antifungal prophylaxis (P = .011). Three more FI were identified in Group 2. By logistic regression analysis, the categorical variable high-risk group was independently related to the occurrence of invasive FI (P = .006). We conclude that prophylaxis with L-AmB after LT was effective in reducing the incidence of FI. No influence on mortality was detected.

Early Sac Shrinkage Predicts a Low Risk of Late Complications After Endovascular Aortic Aneurysm Repair

BACKGROUND: Aneurysm shrinkage has been proposed as a marker of successful endovascular aneurysm repair (EVAR). Patients with early postoperative shrinkage may experience fewer subsequent complications, and consequently require less intensive surveillance. METHODS: Patients undergoing EVAR from 2000 to 2011 at three vascular centres (in 2 countries), who had two imaging examinations (postoperative and after 6-18 months), were included. Maximum diameter, complications and secondary interventions during follow-up were registered. Patients were categorized according to early sac dynamics. The primary endpoint was freedom from late complications. Secondary endpoints were freedom from secondary intervention, postimplant rupture and direct (type I/III) endoleaks. RESULTS: Some 597 EVARs (71.1 per cent of all EVARs) were included. No shrinkage was observed in 284 patients (47.6 per cent), moderate shrinkage (5-9 mm) in 142 (23.8 per cent) and major shrinkage (at least 10 mm) in 171 patients (28.6 per cent). Four years after the index imaging, the rate of freedom from complications was 84.3 (95 per cent confidence interval 78.7 to 89.8), 88.1 (80.6 to 95.5) and 94.4 (90.1 to 98.7) per cent respectively. No shrinkage was an independent risk factor for late complications compared with major shrinkage (hazard ratio (HR) 3.11; P < 0.001). Moderate compared with major shrinkage (HR 2.10; P = 0.022), early postoperative complications (HR 3.34; P < 0.001) and increasing abdominal aortic aneurysm baseline diameter (HR 1.02; P = 0.001) were also risk factors for late complications. Freedom from secondary interventions and direct endoleaks was greater for patients with major sac shrinkage. CONCLUSION: Early change in aneurysm sac diameter is a strong predictor of late complications after EVAR. Patients with major sac shrinkage have a very low risk of complications for up to 5 years. This parameter may be used to tailor postoperative surveillance.

Derivation and consistency checking of models in early software product line engineering

Dissertação para obtenção do Grau de Doutor em Engenharia Informática

Endoscopic Treatment of Early Gastric Obstruction After Sleeve Gastrectomy: Report of Two Cases

Morbid obesity is an epidemic and complex disease which imposes a multidisciplinary approach. Laparoscopic sleeve gastrectomy has become a frequent procedure given its effi- cacy and safety compared to other surgical options. However, it isn’t free from complications. Lax gastric fixation or incorrect positioning of the stomach during surgery can result in early gastric outlet obstruction caused by a volvulus-like mechanism by rotation of the stomach around its anatomic axes. This report refers to two cases of post sleeve gastric torsion resulting in persisting vomiting after initiating oral intake. The diagnosis was confirmed by upper gastrointestinal-contrast study and gastroscopy. In both cases, a fully covered self-expandable metallic stentwas insertedwhich prompted the gastric lumen to become permeable resulting in symptomatic resolution. The stents were removed endoscopically aftertwo and three months. Beyond more than three years offollow-up,the patients remain asymptomatic and no recurring ‘‘stenosis’’ was noticed.In these cases the use offully covered self-expandable metallic stents demonstrated to be effective and safe in the treatment of post sleeve gastric torsion.