Persistent seropositivity in oophorectomy-resistant anti-NMDA receptor encephalitis.

To discuss (1) the significance of seropositivity in anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis and (2) clinical decision making in oophorectomy resistant disease. Patient A (a 35-year-old woman) had high CSF and serum anti-NMDA antibody titres, a complicated hospital course, little improvement with first and second-line therapies, and remained with high CSF and serum antibody titres despite unilateral oophorectomy, requiring a nearly 13-month long hospitalisation. Conversely, patient B (a 29-year-old woman) had low CSF titres, seronegative disease and quickly recovered to her baseline with first line therapies and oophorectomy. Anti-NMDAR antibodies are themselves pathological, causing signalling dysfunction and internalisation of the NMDAR. Seropositivity with anti-NMDAR antibodies likely reflects leakage from the blood-brain barrier, with high serum titres being a downstream effect of high CSF titres. Empiric bilateral oophorectomies is controversial but appropriate on a case-by-case basis in extremely treatment-resistant NMDAR encephalitis given the possibility of antigenic microteratomas, which may not be detected on imaging or even bilateral ovarian biopsies.

Ultrastructural aspects of primary anetoderma.

Anetoderma is a rare cutaneous disorder characterized by focal loss of dermal elastic tissue due to unknown mechanisms. Primary anetoderma develops on clinical normal skin, without any preceding dermatosis and it can be associated with autoimmune conditions. Secondary anetoderma develops on the same area of a previous disorder, such as infectious, neoplastic or inflammatory diseases. A 37-year-old female patient noticed for 4 years circumscribed, normochromic, asymptomatic herniated plaques on the trunk and upper limbs. Family history was negative. Only a positive antinuclear factor (ANF) test, with titer of 1:160 and nuclear homogeneous pattern was found. Light microscopy with Weigert staining showed a lessening of elastic fibers with fragmentation; the oxytalanic fibers were also affected or absent. Transmission electron microscopy showed fragmentation and granular degeneration of elastic fibers. With greater magnification, fragments similar to those seen with optical microscopy were identified. The collagen fibers did not present any alteration. The examination of the dermis with scanning electron microscopy also identified fragmentation and significant fissures of the elastic tissue, granular degeneration was also observed. With greater magnification fragmented elastic fibers were seen.

An empirical evaluation of the translation to Brazilian Portuguese of the Loss of Control over Eating Scale (LOCES)

Abstract Background Loss of control over eating is a key feature of the most prevalent eating disorders. The Loss of Control over Eating Scale (LOCES) enables a thorough assessment of loss of control over eating. Objective This study empirically evaluated the translation of the LOCES from English to Brazilian Portuguese. Methods The scale was translated to Brazilian Portuguese and back translated to English in order to check accuracy of the translation. Two hundred and ninety-three medicine and nursing students, 60 males and 233 females, 18-55 years old, with mean body mass index (BMI) 23.2 kg/m2 (SD 4.1), recruited between August and December 2014, answered the Brazilian Portuguese LOCES. An exploratory factor analysis was performed. Results Exploratory factor analysis of the Brazilian Portuguese LOCES showed three distinct factors of the loss of control over eating (disgust/negative sensations, cognitive experiences/dissociation, and “positive” effects) as well as moderate consistency with previous reports of exploratory factor analysis of the English version. Discussion This study showed satisfactory translation of the LOCES from English to Brazilian Portuguese, which is now ready for further validation.

Monitor intracardíaco implantável (AngelMed Guardian) para detectação de isquemia miocárdica / Implantable intracardiac monitor (AngelMed Guardian) for the detection of myocardial ischemia

A maioria das mortes por infarto agudo do miocárdio (IAM) ocorre nas primeiras horas da manifestação da oclusão coronariana; portanto, em geral, acontece fora do ambiente hospitalar. O tempo decorrido entre o início da oclusão coronariana até o tratamento ser realizado é diretamente proporcional à morbidade e mortalidade cardiovascular. O prognóstico dos pacientes depende da rapidez em chegar a um hospital e quão rápido o hospital possa diagnosticar o IAM e realizar reperfusão coronariana. Estudos indicam que o tempo médio decorrido entre o início da apresentação de sintomas de IAM e a chegada do paciente ao hospital permanece entre 2 e 3 horas; no entanto, sabe-se que um terço dos IAMs é assintomático e, nesses casos, o diagnóstico é realizado posteriormente por achados clínicos através de exames complementares. Para tanto, o diagnóstico precoce é essencial para melhorar os resultados terapêuticos. Um dispositivo que monitore o coração, continuamente, via uma conexão intracardíaca, pode ser benéfico para indivíduos com doença arterial coronária (DAC) e alto risco cardiovascular, por alertá-los em tempo real quando alterações eletrocardiográficas agudas no segmento ST são detectadas (indicando oclusão coronariana aguda). Estudos nos EUA e no Brasil demonstraram que indivíduos que receberam o monitor intracardíaco implantável (MICI) apresentaram tempo médio de resposta, entre o início de um evento coronariano oclusivo e a chegada ao hospital, de 19,5 minutos, mostrando redução substancial no tempo habitual de resposta de 2-3 horas. Outros estudos demonstraram a segurança, a viabilidade e o potencial benefício de se utilizar um dispositivo de monitoramento intracardíaco para alertar o paciente de eventos coronarianos, mesmo que eles eventos sejam assintomáticos. Dessa forma, um sistema com capacidade de alertar em tempo real poderia antecipar a terapia de reperfusão e potencialmente prevenir, em vez de interromper, IAM em pacientes com DAC...

Intranodal papillary epithelial proliferations: a local process with a spectrum of morphologies and frequent association with papillomas in the breast.

Lymph nodes, particularly those draining in major anatomic sites like axilla, pelvis, and neck are potential sites for the occasional presence of ectopic tissue, usually representative of the organ being drained. Owing to the uncertainty surrounding the processes causing such findings, and particularly in the setting of lymph node dissection and sampling for cancer staging, intranodal epithelial inclusions, rare as they may be, might be fertile soil for overdiagnosis of metastatic disease. Intranodal papillary inclusions are particularly problematic and challenging because of their complex architecture that may easily mimic a metastasis. From the files of the Breast Consultation Service, Department of Pathology at the Vanderbilt University Medical Center in Nashville, we identified 6 cases in which histopathologic examination of axillary lymph nodes revealed intranodal papillary inclusions (papillary epithelial proliferations). One case showed atypical ductal hyperplasia, 1 showed low-grade ductal carcinoma in situ, and 1 showed usual ductal hyperplasia. The corresponding breast lesions were papillomas in 5 of 6 cases, 2 of which displayed atypical ductal hyperplasia, whereas 3 showed low-grade ductal carcinoma in situ. One case showed intermediate-grade invasive ductal carcinoma, and the associated intranodal papilloma lacked atypia. Our findings suggest that intranodal papillary proliferations are often, although not exclusively, associated with papillary and noninvasive breast neoplasms, hence highlighting the origin of these intranodal lesions as independent de novo nodal processes rather than metastatic deposits.

Citations of Brazilian physical therapy journals in national publications / Citacao de periodicos de fisioterapia brasileiros em publicacoes nacionais

Background: Quotations in Brazilian journals are mainly obtained from national articles (articles from Brazilian journals); thus, it is essential to determine how frequently these articles reference Brazilian journals. Objective: This study sought to verify how frequently national papers are cited in the references of three Brazilian physical therapy journals. Method: All references for articles published in Fisioterapia em Movimento, Fisioterapia e Pesquisa and Revista Brasileira de Fisioterapia between 2010 and 2012 were evaluated. In particular, the numbers of national articles and international articles (articles from international journals) cited in these references were determined. Results: A total of 13,009 references cited by 456 articles were analyzed, and 2,924 (22.47%) of the cited works were national articles. There were no significant differences among the three examined years. A total of 36 (7.89%) articles did not cite national articles, whereas 65 (13.25%) articles cited more national articles than international articles. Conclusion: On average, 22.47% of the works cited by the evaluated articles were national articles. No significant differences were detected among the three analyzed years. .

Contextualização: A principal fonte das citações dos periódicos brasileiros provém de artigos nacionais, sendo fundamental conhecer o quanto eles referenciam artigos de periódicos brasileiros. Objetivo: Verificar a frequência com que artigos nacionais são citados nas referências de artigos de três periódicos brasileiros de fisioterapia. Método: Avaliaram-se todas as referências dos artigos publicados nos periódicos: Fisioterapia em Movimento, Fisioterapia e Pesquisa e Revista Brasileira de Fisioterapia nos anos de 2010 a 2012, verificando a quantidade de artigos provenientes de revistas nacionais e internacionais. Resultados: Foram analisadas 13.009 referências, dispostas em 456 artigos nas três revistas. Desse total, 2.924 (22,47%) foram de periódicos nacionais. Não houve diferença significativa entre os períodos analisados. Trinta e seis (7,89%) dos artigos não citaram artigo de periódico nacional, e 65 (14,25%) citaram mais artigos nacionais que estrangeiros. Conclusão: O valor médio da porcentagem de artigos nacionais citados nos artigos estudados foi de 22,47%. Não houve diferença entre os períodos estudados. .

Dysregulation of BMI1 and microRNA-16 collaborate to enhance an anti-apoptotic potential in the side population of refractory mantle cell lymphoma.

The proto-oncogene BMI1 and its product, Bmi1, is overexpressed in various types of tumors, particularly in aggressive tumors and tumors resistant to conventional chemotherapy. BMI1/Bmi1 is also crucially involved in cancer-initiating cell maintenance, and is recurrently upregulated in mantle cell lymphoma (MCL), especially aggressive variants. Recently, side population (SP) cells were shown to exhibit tumor-initiating characteristics in various types of tumors. In this study, we show that recurrent MCL cases significantly exhibit upregulation of BMI1/Bmi1. We further demonstrate that clonogenic MCL SP shows such tumor-initiating characteristics as high tumorigenicity and self-renewal capability, and that BMI1 was upregulated in the SP from recurrent MCL cases and MCL cell lines. On screening for upstream regulators of BMI1, we found that expression of microRNA-16 (miR-16) was downregulated in MCL SP cells by regulating Bmi1 in the SPs, leading to reductions in tumor size following lymphoma xenografts. Moreover, to investigate downstream targets of BMI1 in MCL, we performed cross-linking/chromatin immunoprecipitation assay against MCL cell lines and demonstrated that Bmi1 directly regulated pro-apoptotic genes such as BCL2L11/Bim and PMAIP1/Noxa, leading to enhance anti-apoptotic potential of MCL. Finally, we found that a proteasome inhibitor bortezomib, which has been recently used for relapsed MCL, effectively induced apoptosis among MCL cells while reducing expression of Bmi1 and increasing miR-16 in MCL SP. These results suggest that upregulation of BMI1 and downregulation of miR-16 in MCL SP has a key role in the disease's progression by reducing MCL cell apoptosis. Our results provide important new insight into the pathogenesis of MCL and strongly suggest that targeting BMI1/Bmi1 might be an effective approach to treating MCL, particularly refractory and recurrent cases.

O fator de impacto influencia na ética das instruções aos autores de uma revista? / Does impact factor influence the ethics of the instructions provided to journal authors?

OBJETIVO: Verificar se o fator de impacto de um periódico é um mecanismo modificador dos quesitos éticos descritos nas instruções aos autores de revistas médicas nacionais. MÉTODOS: Foram selecionadas 48 revistas divididas em dois grupos: grupo com fator de impacto (n = 24), e grupo sem fator de impacto (n = 24). Foi comparada a quantidade de quesitos éticos entre os dois grupos baseados num protocolo de pesquisa próprio, variando de zero a seis pontos, analisando a presença de aprovação por Comitê de Ética em Pesquisa; citação de que a pesquisa segue os preceitos da Declaração de Helsinque e as normas da resolução 196/96; uso de Termo de Consentimento Livre e Esclarecido; informação sobre os conflitos de interesse dos Pesquisadores; e solicitação para que os estudos clínicos sejam cadastrados no Registro Brasileiro de Estudos Clínicos. RESULTADOS: A média da pontuação do grupo com fator de impacto foi significativamente maior que o grupo sem fator de impacto (3,12 ±1,03 vs. 2,08 ±1,64, p = 0,0121). Quando cada quesito ético foi comparado entre os grupos, houve diferença significativa apenas entre a solicitação do TCLE e o conflito de interesses (p < 0,05). CONCLUSÃO: O fator de impacto é um fator determinante na ética contida nas instruções aos autores das revistas científicas, mostrando que as revistas de maior qualidade buscam artigos com melhores desenhos e que sejam criteriosos quando do início da pesquisa.

OBJECTIVE: Verify whether a journal's impact factor is a mechanism that modifies the ethi cal requirements described in the instructions provided to authors of articles published in Brazilian medical journals. METHODS: 48 selected journals were divided into two groups: impact-factor (n = 24), and no impact-factor (n = 24). The number of ethical requirements was compared between both groups based on a specific research protocol, ranging from zero to six points, analyzing the presence of an approval by a research ethics committee; reference to the fact that the research follows the precepts of the Declaration of Helsinki and the rules of Resolution 196/96; use of an informed consent; information about the authors' conflicts of interest; and a request for registration of clinical trials in the Brazilian Clinical Trials Registry. RESULTS: The average score of the impact-factor group was significantly higher than that of the no-impact-factor group (3.12 ± 1.03 vs. 2.08 ± 1.64, p = 0.0121). When each ethical requirement was compared between the groups, there was significant difference only between the requirement of an informed consent and the disclosure of conflicts of interest (p < 0.05). CONCLUSION: The impact factor is a determinant factor on the ethics included in the instructions to authors of articles in scientific journals, showing that higher-quality journals seek better-designed articles that are conscientious at the beginning of the research.

Light and electron microscopy of classical Ehlers-Danlos syndrome.

A 12-year-old boy with difficulty in wound healing and abnormal scars since early childhood was examined. Light microscopy showed loose and disperse dermal collagen with rare bundles, and fibroblasts show an irregular morphology. The fibrous sheath of hair presented a normal parallel distribution of the collagen fibers with normal spindle-shaped fibroblasts. Transmission electron microscopy also found disorganized collagen fibers, which were seen in a same field in longitudinal and cross sections. With high magnifications, an amorphous substance was seen near to loose collagen fibers, which showed variable diameters in cross sections. Scanning electron microscopy of the dermis showed disorganized collagen fibers and with higher magnification, important collagen disarrangement was observed with isolated and crossed-over fibers.

Profiling of residual breast cancers after neoadjuvant chemotherapy identifies DUSP4 deficiency as a mechanism of drug resistance.

Neoadjuvant chemotherapy (NAC) induces a pathological complete response (pCR) in ~30% of patients with breast cancer. However, many patients have residual cancer after chemotherapy, which correlates with a higher risk of metastatic recurrence and poorer outcome than those who achieve a pCR. We hypothesized that molecular profiling of tumors after NAC would identify genes associated with drug resistance. Digital transcript counting was used to profile surgically resected breast cancers after NAC. Low concentrations of dual specificity protein phosphatase 4 (DUSP4), an ERK phosphatase, correlated with high post-NAC tumor cell proliferation and with basal-like breast cancer (BLBC) status. BLBC had higher DUSP4 promoter methylation and gene expression patterns of Ras-ERK pathway activation relative to other breast cancer subtypes. DUSP4 overexpression increased chemotherapy-induced apoptosis, whereas DUSP4 depletion dampened the response to chemotherapy. Reduced DUSP4 expression in primary tumors after NAC was associated with treatment-refractory high Ki-67 scores and shorter recurrence-free survival. Finally, inhibition of mitogen-activated protein kinase kinase (MEK) synergized with docetaxel treatment in BLBC xenografts. Thus, DUSP4 downregulation activates the Ras-ERK pathway in BLBC, resulting in an attenuated response to anti-cancer chemotherapy.

The role of microRNA-150 as a tumor suppressor in malignant lymphoma.

MicroRNA (miRNA; miR) is a class of small regulatory RNA molecules, the aberrant expression of which can lead to the development of cancer. We recently reported that overexpression of miR-21 and/or miR-155 leads to activation of the phosphoinositide 3-kinase (PI3K)-AKT pathway in malignant lymphomas expressing CD3(-)CD56(+) natural killer (NK) cell antigen. Through expression analysis, we show in this study that in both NK/T-cell lymphoma lines and samples of primary lymphoma, levels of miR-150 expression are significantly lower than in normal NK cells. To examine its role in lymphomagenesis, we transduced miR-150 into NK/T-cell lymphoma cells, which increased the incidence of apoptosis and reduced cell proliferation. Moreover, the miR-150 transductants appeared senescent and showed lower telomerase activity, resulting in shortened telomeric DNA. We also found that miR-150 directly downregulated expression of DKC1 and AKT2, reduced levels of phosphorylated AKT(ser473/4) and increased levels of tumor suppressors such as Bim and p53. Collectively, these results suggest that miR-150 functions as a tumor suppressor, and that its aberrant downregulation induces continuous activation of the PI3K-AKT pathway, leading to telomerase activation and immortalization of cancer cells. These findings provide new insight into the pathogenesis of malignant lymphoma.

Influence of thyroid hormones and transforming growth factor-ß1 on cystatin C concentrations.

Serum cystatin C concentrations are reported to increase in the hyperthyroid state. Serum concentrations of cystatin C and transforming growth factor-ß1 (TGF-ß1) were measured in patients with thyroid dysfunction, and the effects of 3,5,3'-tri-iodothyronine (T(3)) and TGF-ß1 on cystatin C production in human hepatoblastoma (Hep G2) cells were studied. Serum concentrations of cystatin C and TGF-ß1 were significantly higher in patients with Graves' disease compared with control subjects. Significantly positive correlations were observed between thyroid hormones and cystatin C, thyroid hormones and TGF-ß1, and TGF-ß1 and cystatin C in patients with thyroid dysfunction. Serum concentrations of cystatin C and TGF-ß1 decreased after treatment for hyperthyroidism. Cystatin C mRNA levels and cystatin C secretion were increased by T(3) and TGF-ß1 in cultured Hep G2 cells. These results suggest that serum cystatin C concentrations increase in patients with hyperthyroidism. The mechanisms for this may involve elevation of serum TGF-ß1 levels and the stimulatory effects of T(3) and TGF-ß1 on cystatin C production.

Modulatory effects of cAMP and PKC activation on gap junctional intercellular communication among thymic epithelial cells.

BACKGROUND: We investigated the effects of the signaling molecules, cyclic AMP (cAMP) and protein-kinase C (PKC), on gap junctional intercellular communication (GJIC) between thymic epithelial cells (TEC). RESULTS: Treatment with 8-Br-cAMP, a cAMP analog; or forskolin, which stimulates cAMP production, resulted in an increase in dye transfer between adjacent TEC, inducing a three-fold enhancement in the mean fluorescence of coupled cells, ascertained by flow cytometry after calcein transfer. These treatments also increased Cx43 mRNA expression, and stimulated Cx43 protein accumulation in regions of intercellular contacts. VIP, adenosine, and epinephrine which may also signal through cyclic nucleotides were tested. The first two molecules did not mimic the effects of 8-Br-cAMP, however epinephrine was able to increase GJIC suggesting that this molecule functions as an endogenous inter-TEC GJIC modulators. Stimulation of PKC by phorbol-myristate-acetate inhibited inter-TEC GJIC. Importantly, both the enhancing and the decreasing effects, respectively induced by cAMP and PKC, were observed in both mouse and human TEC preparations. Lastly, experiments using mouse thymocyte/TEC heterocellular co-cultures suggested that the presence of thymocytes does not affect the degree of inter-TEC GJIC. CONCLUSIONS: Overall, our data indicate that cAMP and PKC intracellular pathways are involved in the homeostatic control of the gap junction-mediated communication in the thymic epithelium, exerting respectively a positive and negative role upon cell coupling. This control is phylogenetically conserved in the thymus, since it was seen in both mouse and human TEC preparations. Lastly, our work provides new clues for a better understanding of how the thymic epithelial network can work as a physiological syncytium.

Light and electron microscopy of eruptive collagenoma.

Connective tissue nevi may be multiple or solitary, sporadic or familial. Eruptive collagenoma is a variant of the acquired collagenomas characterized by multiple sclerotic papules with an acute onset. A 13-year-old girl reported that in the past year, small asymptomatic lesions began to appear in her skin, 30 lesions were seen in the trunk, 5 in the cervical region and 1 in the face. Light microscopy with hematoxylin and eosin staining showed sparse collagen fibers, with Weigert staining diminished elastic tissue was observed. Scanning electron microscopy of the dermis showed individualized collagen fibers forming waved compact masses and not bundles. Transmission electron microscopy also showed sparse and loose collagen fibers with different diameters in cross sections.

Secondary bronchiolitis obliterans organising pneumonia in a patient with carbamazepine-induced hypogammaglobulinaemia.

Here we describe a case of a secondary bronchiolitis obliterans organizing pneumonia (BOOP), which was associated with repeated respiratory infections caused by carbamazepine (CBZ)- induced hypogammaglobulinaemia. A 49-year-old woman had been treated with CBZ (400 mg/day). Two and a half years later, she developed of dyspnea with productive cough and high-grade fever. Chest roentgenogram and computed tomography showed bilateral infiltrates in lower lung fields. Her laboratory findings revealed severe hypogammaglobulinaemia, suggesting that an immune system disorder caused pulmonary infection. Histological examination by trans-bronchial lung biopsy (TBLB) demonstrated that many foamed alveolar macrophages were obstructing the alveolar ducts and adjacent alveoli, suggesting BOOP. After cessation of CBZ, the hypogammaglobulinaemia and chest roentgenogram findings markedly improved. The present case suggests that CBZ may have some adverse effects on the immune system and cause frequent airway infections, and that secondary BOOP could be induced by repeated infections caused by CBZ-induced hypogammaglobulinaemia.

Living donor liver transplantation for a child with recurrent pediatric adult-type hepatocellular carcinoma.

INTRODUCTION: Pediatric hepatocellular carcinoma (HCC) is an uncommon disease with a poor prognosis. There are few reports about liver transplantation for pediatric adult-type HCC. We experienced a case of living donor liver transplantation (LDLT) for a child with recurrent pediatric adult-type HCC. CASE REPORT: A 12-year-old boy was admitted to the Department of Pediatrics in our institution due to HCC in May 2005. He underwent hepatectomy after 3 courses of chemotherapy in July 2005. After the operation, he had 2 more courses of the same chemotherapy. His posttheraputic course was uneventful for 1 year. However, his alpha-fetoprotein level increased and a computed tomography (CT) scan showed recurrent tumor in his remnant liver in October 2006. He underwent another chemotherapy session immediately. However, CT revealed multiple liver tumors after chemotherapy in December 2006. His mother requested to be an LDLT donor, which was performed on January 23, 2007. The donor operation was a right hepatic lobectomy. The postoperative course of the donor was unremarkable and she has now returned to work. The recipient's posttransplantation course was uneventful and he was discharged at postoperative day 53 and is currently doing well. CONCLUSION: Liver transplantation in conjunction with chemotherapy may have an increasing role in the management of pediatric HCC.

Gastric mucin is expressed in a subset of endocervical tunnel clusters: type A tunnel clusters of gastric phenotype.

AIMS: Gastric mucin expression has been demonstrated in a group of endocervical glandular lesions. The aim of this study was to gain further insight into endocervical lesions with a gastric phenotype. METHODS AND RESULTS: Various types of tunnel clusters (TC) were examined for gastric mucin by alcian blue/periodic acid-Schiff staining and immunohistochemistry for HIK1083. Five of 34 cases of TC expressed gastric mucin defined by PAS dominant neutral mucin and immunopositivity for pyloric gland mucin. Histologically, TC expressing gastric mucin showed lobular arrangements of small to medium-sized glands composed of mucin-rich columnar cells and were classified as Flumann's type A TC. Neither type B TC nor normal endocervical glands expressed PAS dominant neutral mucin and none of them was immunopositive for pyloric gland mucin. Five patients with type A TC of gastric phenotype ranged in age from 33 to 79 years (mean 58 years) and were multiparous. Type A TC of gastric phenotype, ranging from 2 to 4 mm in maximum diameter, were incidental findings in hysterectomy specimens. CONCLUSION: Type A TC of gastric phenotype could be related to lobular endocervical glandular hyperplasia of gastric phenotype. The pathogenesis of gastric metaplasia in TC remains unclear.

Doença granulomatosa crônica: Relato de caso / Chronic Granulomatous disease: Case report and Article review

Objetivo: Apresentar um caso de doença granulomatosa crônica e rever a literatura sobre esta imunodeficiência. Método: Os dados foram coletados por anamnese, exame físico e pesquisa de prontuário médico. Exames conclusivos para definição do diagnóstico feito por meio da prova do nitroblue tetrazolium (NBT) e medida da produção do ânion superóxido. Relato de Caso: Paciente do sexo feminino, oito anos, desde os seis meses de idade vem apresentando várias tumorações no corpo associado à dor, eritema e febre, evoluiu com abscessos cutâneos e pneumonias; aos exames foi detectado NBT, após estimulo com PMA igual a 0 por cento, diagnosticando-se doença granulomatosa crônica, sendo instituído antibioticoterapia profilática com sulfametoxazol-trimetroprin apresentando boa evolução clínica Considerações finais: A doença granulomatosa crônica é uma importante enfermidade que deve ser lembrada no diagnóstico diferencial das imunodeficiências primárias, principalmente em crianças com menos de um ano de idade, período em que há geralmente o início dos primeiros sintomas.

Desmoplastic small round cell tumour: Cytological and immunocytochemical features.

BACKGROUND: Desmoplastic small round cell tumor (DSRCT) is a rare and highly aggressive neoplasm. The cytological diagnosis of these tumors can be difficult because they show morphological features quite similar to other small round blue cells tumors. We described four cases of DSRCT with cytological sampling: one obtained by fine needle aspiration biopsy (FNAB) and three from serous effusions. The corresponding immunocytochemical panel was also reviewed. METHODS: Papanicolaou stained samples from FNAB and effusions were morphologically described. Immunoreaction with WT1 antibody was performed in all cytological samples. An immunohistochemical panel including the following antibodies was performed in the corresponding biopsies: 34BE12, AE1/AE3, Chromogranin A, CK20, CK7, CK8, Desmin, EMA, NSE, Vimentin and WT1. RESULTS: The smears showed high cellularity with minor size alteration. Nuclei were round to oval, some of them with inconspicuous nucleoli. Tumor cells are clustered, showing rosette-like feature. Tumor cells in effusions and FNA were positive to WT1 in 3 of 4 cytology specimens (2 out 3 effusions and one FNA). Immunohistochemical reactions for vimentin, NSE, AE1/AE3 and WT1 were positive in all cases in tissue sections. CONCLUSION: The use of an adjunct immunocytochemical panel coupled with the cytomorphological characteristics allows the diagnosis of DSRCT in cytological specimens.