FATAL GROUP A STREPTOCOCCAL TOXIC SHOCK-LIKE SYNDROME IN A CHILD WITH VARICELLA: REPORT OF THE FIRST WELL DOCUMENTED CASE WITH DETECTION OF THE GENETIC SEQUENCES THAT CODE FOR EXOTOXINS SPE A AND B, IN SÃO PAULO, BRAZIL

A previously healthy seven-year-old boy was admitted to the intensive care unit because of toxaemia associated with varicella. He rapidly developed shock and multisystem organ failure associated with the appearance of a deep-seated soft tissue infection and, despite aggressive treatment, died on hospital day 4. An M-non-typable, spe A and spe B positive Group A Streptococcus was cultured from a deep soft tissue aspirate. The criteria for defining Streptococcal toxic shock-like syndrome were fulfilled. The authors discuss the clinical and pathophysiological aspects of this disease as well as some unusual clinical findings related to this case.

Whipple's disease. Report of five cases with different clinical features

Whipple's disease (WD) is a rare systemic disease of infectious etiology which involves the small intestine but can virtually affect any organ. We present here five cases (four males and one female) ranging in age from 20 to 59 years. All patients had intestinal involvement associated or not with clinical manifestations linked to this organ. Vegetation in the tricuspid valve was observed in one patient, suggesting endocarditis caused by Tropheryma whippelii, with disappearance of the echocardiographic alterations after treatment. In one of the male patients the initial clinical manifestation was serologically negative spondylitis, with no diarrhea occurring at any time during follow-up. Ocular involvement associated with intestinal malabsorption and significant weight loss were observed in one case. In the other two cases, diarrhea was the major clinical manifestation. All patients were diagnosed by histological examination of the jejunal mucosa and, when indicated, of extraintestinal tissues by light and electron microscopy. After antibiotic treatment, full remission of symptoms occurred in all cases. A control examination of the intestinal mucosa performed after twelve months of treatment with sulfamethoxazole-trimethoprim revealed the disappearance of T. whippelii in four patients. The remaining patient was lost to follow-up.

Paracoccidioidomycosis in organ transplant recipient: case report

Paracoccidioidomycosis is a common disease in Latin America but it is rare in organ transplant recipient patients. We report on a case of such mycosis in a renal transplant recipient. The patient presented with a large lung cavity on the left lower lobe, a rare radiological presentation of paracoccidioidomycosis. Unusual clinical and radiological manifestations of Paracoccidioides brasiliensis infection can occur in immunocompromised patients.

Ensemble: an innovative approach to practice computer programming

Currently, the teaching-learning process in domains, such as computer programming, is characterized by an extensive curricula and a high enrolment of students. This poses a great workload for faculty and teaching assistants responsible for the creation, delivery, and assessment of student exercises. The main goal of this chapter is to foster practice-based learning in complex domains. This objective is attained with an e-learning framework—called Ensemble—as a conceptual tool to organize and facilitate technical interoperability among services. The Ensemble framework is used on a specific domain: computer programming. Content issues are tacked with a standard format to describe programming exercises as learning objects. Communication is achieved with the extension of existing specifications for the interoperation with several systems typically found in an e-learning environment. In order to evaluate the acceptability of the proposed solution, an Ensemble instance was validated on a classroom experiment with encouraging results.

Disseminated cutaneous cryptococcosis in a patient with AIDS

The authors study a patient carrying Aids, with exuberant dermatological manifestations of cryptococcosis. They stress the therapeutic effectiveness of short-term amphotericin B. The authors reviewed cases of cutaneous infection with Cryptococcus reported in the national and international literature, verifying that the frequency has increased with the AIDS epidemic. Also, they discuss about the differential diagnosis with some cases of dermatosis, particularly with the disseminated giant molluscum contagiosum. In relation to the therapy, they affirm that the choice of drug depends on the organ involved, as well as the immune state of the patient.

Annular Lichen Planus in Association with Crohn Disease

BACKGROUND: Lichen planus is an idiopathic inflammatory disease of the skin and mucous membranes. Although the etiology is not established, it has been associated with autoimmune diseases, viral infections, drugs and dental restoration materials. However, the association with inflammatory bowel disease has been very rarely reported in the literature. CASE REPORT: A 19-year-old female patient presented with annular lesions on her upper body and limbs, with a sharply defined border and non-atrophic skin in the center. The lesions were hyperpigmented and had been stable for over one year. The histopathology confirmed the diagnosis of annular lichen planus. She had weight loss, occasional diarrhea, and a severe anemia. The investigation of these symptoms led to the diagnosis of Crohn disease and a sickle cell trait. Therapy with systemic corticosteroids and mesalazine controlled the intestinal disease, with concomitant improvement of the skin lesions. CONCLUSIONS: As lichen planus can be associated with other immunological disorders, the association with inflammatory bowel disease should be considered in the evaluation of the patient.

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.

Mortality after Discharge from Intensive Care: the Impact of Organ System Failure and Nursing Workload Use at Discharge

OBJECTIVES: Mortality after ICU discharge accounts for approx. 20-30% of deaths. We examined whether post-ICU discharge mortality is associated with the presence and severity of organ dysfunction/failure just before ICU discharge. PATIENTS AND METHODS: The study used the database of the EURICUS-II study, with a total of 4,621 patients, including 2,958 discharged alive to the general wards (post-ICU mortality 8.6%). Over a 4-month period we collected clinical and demographic characteristics, including the Simplified Acute Physiology Score (SAPS II), Nine Equivalents of Nursing Manpower Use Score, and Sequential Organ Failure Assessment (SOFA) score. RESULTS: Those who died in the hospital after ICU discharge had a higher SAPS II score, were more frequently nonoperative, admitted from the ward, and had stayed longer in the ICU. Their degree of organ dysfunction/failure was higher (admission, maximum, and delta SOFA scores). They required more nursing workload resources while in the ICU. Both the amount of organ dysfunction/failure (especially cardiovascular, neurological, renal, and respiratory) and the amount of nursing workload that they required on the day before discharge were higher. The presence of residual CNS and renal dysfunction/failure were especially prognostic factors at ICU discharge. Multivariate analysis showed only predischarge organ dysfunction/failure to be important; thus the increased use of nursing workload resources before discharge probably reflects only the underlying organ dysfunction/failure. CONCLUSIONS: It is better to delay the discharge of a patient with organ dysfunction/failure from the ICU, unless adequate monitoring and therapeutic resources are available in the ward.

Atypical Phenotype in Two Patients with LAMA2 Mutations

Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the a2-chain of laminin. We report two patients with partial laminin-a2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. Patients underwent clinical, histopathological, imaging and genetic studies. Both cases have two heterozygous LAMA2 variants sharing a potentially pathogenic missense mutation c.2461A>C (p.Thr821Pro) located in exon 18. Brain MRI was instrumental for the diagnosis, since muscular examination and motor achievements were normal in the first patient and there was a severe cardiac involvement in the second. The clinical phenotype of the patients is markedly different which could in part be explained by the different combination of mutations types (two missense versus a missense and a truncating mutation).

The Oncological and Functional Risks of the Organ Preservation Experimental Treatment Approach

We increasingly face conservative surgery for rectal cancer and even the so called ‘wait and see’ approach, as far as 10–20% patients can reach a complete pathological response at the time of surgery. But what can we say to our patients about risks? Standard surgery with mesorectal excision gives a <2% local recurrence with a post operative death rate of 2–8% (may reach 30% at 6 months in those over 85), but low AR has some deterioration in bowel function and in low cancer a permanent stoma may be required. Also a long-term impact on urinary and sexual function is possible. Distant metastasis rate seem to be identical in the standard and conservative approach. It is difficult to evaluate conservative approach because a not clear standardization of surgery for low rectal cancer. Rullier et al tried to clarify, and they found identical results for recurrence (5–9%), disease free survival (70%) at 5y for coloanal anastomosis and intersphinteric resection. Other series have found local recurrence higher than with standard approach and functional results may be worse and, in some situations, salvage therapy is compromised or has more complications. In this context, functional outcomes are very important but most studies are incomplete in measuring bowel function in the context of conservative approach. In 2005 Temple et al made a survey of 122/184 patient after sphinter preserving surgery and found a 96.9% of incomplete evacuation, 94.4% clustering, 93.2% food affecting frequency, 91.8% gas incontinence and proposed a systematic evaluation with a specific questionnaire. In which concerns ‘Wait and see’ approach for complete clinical responders, it was first advocated by Habr Gama for tumors up to 7cm, with a low locoregional failure of 4.6%, 5y overall survival 96%, 72% for disease free survival; one fifth of patients failed in the first year; a Dutch trial had identical results but others had worse recurrence rates; in other series 25% of patients could not be salvaged even with APR; 30% have subsequent metastatic disease what seems equal for ‘wait and see’ and operated patients. In a recent review Glynne Jones considers that all the evaluated ‘wait and see’ studies are heterogeneous in staging, inclusion criteria, design and follow up after chemoradiation and that there is the suggestion that patients who progress while under observation fare worse than those resected. He proposes long-term observational studies with more uniform inclusion criteria. We are now facing a moment where we may be more aggressive in early cancer and neoadjuvant treatment to be more conservative in the subsequent treatment but we need a better stratification of patients, better evaluation of results and more clear prognostic markers.

Neuroendocrine Tumours of the Female Genital Tract: a Case-Based Imaging Review with Pathological Correlation

BACKGROUND: Both primary and secondary gynaecological neuroendocrine (NE) tumours are uncommon, and the literature is scarce concerning their imaging features. METHODS: This article reviews the epidemiological, clinical and imaging features with pathological correlation of gynaecological NE tumours. RESULTS: The clinical features of gynaecological NE tumours are non-specific and depend on the organ of origin and on the extension and aggressiveness of the disease. The imaging approach to these tumours is similar to that for other histological types and the Revised International Federation of Gynecology and Obstetrics (FIGO) Staging System also applies to NE tumours. Neuroendocrine tumours were recently divided into two groups: poorly differentiated neuroendocrine carcinomas (NECs) and well-differentiated neuroendocrine tumours (NETs). NECs include small cell carcinoma and large cell neuroendocrine carcinoma, while NETs account for typical and atypical carcinoids. Cervical small cell carcinoma and ovarian carcinoid are the most common gynaecological NE tumours. The former typically behaves aggressively; the latter usually behaves in a benign fashion and tends to be confined to the organ. CONCLUSION: While dealing with ovarian carcinoids, extra-ovarian extension, bilaterality and multinodularity raise the suspicion of metastatic disease. NE tumours of the endometrium and other gynaecological locations are very rare. TEACHING POINTS: • Primary or secondary neurondocrine (NE) tumours of the female genital tract are rare. • Cervical small cell carcinoma and ovarian carcinoids are the most common gynaecological NE tumours. • Cervical small cell carcinomas usually behave aggressively. • Ovarian carcinoids tend to behave in a benign fashion. • The imaging approach to gynaecological NE tumours and other histological types is similar.

Neuropsychiatric Features of a Cohort of Patients with Systemic Lupus Erythematosus

In order to establish if neuropsychiatric systemic lupus erythematosus (NPSLE) can be identified by any characteristic other than those used to diagnose the neuropsychiatric (NP) disease itself, we retrospectively reviewed 98 systemic lupus erythematosus (SLE) patients followed over a mean period of 10 years. NPSLE was identified in 22 patients. Stroke and generalized seizures were the most frequent NP manifestations. The NPSLE and non-NPSLE groups were similar with regard to demographic characteristics, ACR criteria, serum autoantibodies, and frequency of hypertension and hypercholesterolemia. Of note, compared to the non-NPSLE group, NPSLE was associated with a higher frequency of smoking (78 versus 26%), organ damage (73 versus 34%), and cumulative mortality rate (14 versus 7%). The series of patients was further analysed according to the presence of antiphospholipid syndrome (APS). Significantly, the interval between the onset of NP disease and SLE diagnosis was shorter in the APS(-) (0.3 ± 1 years) than in the APS(+) (5 ± 7 years) groups. Recurrence and/or persistence of NP events were only documented in the APS(-) group. Overall cumulative mortality was highest in NPSLE and in APS(+) patients with inadequate anticoagulation control, identifying an aspect that requires improved vigilance and the development of novel therapeutic modalities.

Course of infection and histopathological lesions in mice infected with seventeen Trypanosoma cruzi strains isolated from chronic patients

Mice were infected with blood forms of 17 Trypanosoma cruzi strains recently isolated from chronic patients, which were dassified as of low, medium or high virulence on grounds of the prepatent period, parasitemia and mortality at the acute phase. A total of 212 mice were studied after 3, 6, 9 and 12 months of infection. In the chronic phase, intracellular parasites were detected in 11.0%,27.9%and 54.0,% of mice inoculated, respectively, with the low, medium and high virulent strains (r= 0.98, p < 0.005). Heart fibrosis was also related to virulence, affecting 5.7%, 11.6%and30.8% (r = 0.98, p < 0.001) of the mice inoculated with the above strains; a similar relationship was observed between intensity and frequency of the heart inflammatory reaction and the severity of infection at its early stage. Necrotizing arteritis was detected in 12.2% of the inoculated animals and this lesion was related to the infection duration rather than to strain characteristics. Inflammatory lesions and tissue parasitism were stable within the period of observation, whereas fibrosis was Progressive. The findings suggest that mice may reproduce heart lesions resembling human pathology and that organ damage apparently depends on the parasite virulence.

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.

Ensemble classifiers in remote sensing: a comparative analysis

Dissertation submitted in partial fulfillment of the requirements for the Degree of Master of Science in Geospatial Technologies.