CT‐guided aspiration cytology of advanced silicosis and confirmation of the deposited zeolite nano particles through X ray diffraction: A novel approach

Silicosis is a common occupational lung disease, resulting in fibrotic nodular lesions in the upper lobes of the lung parenchyma. Most of the pneumoconioses are diagnosed on the basis of relevant history and clinico‐radiological correlation. Image‐guided aspiration cytology appears to be poorly yielding and is not usually considered as a diagnostic modality. However, silicosis may sometimes offer a diagnostic challenge because of its radiological resemblance and clinical overlap with pulmonary tuberculosis and neoplastic lesions. We present a unique situation where image‐guided fine needle aspiration cytology (FNAC) has been advised on the basis of nodular upper lobe opacities. The cytology smears revealed hypocellular granular material, while phase contrast and polarized light microscopy highlighted crystalline particles. History of silica dust exposure long back was available after the cytological evaluation, suggesting the diagnosis of pulmonary silicosis. X ray diffraction (XRD) crystallography was also possible on cytology smears, confirming zeolite nano particles of size as small as 40 ? 50 nm as the concerned agent for the first time. Cytological evaluation by phase contrast and polarized light microscopy may be useful for the confirmation of silicosis, supplemented by clinical history and radiological evaluation. XRD on smears may help in determination of chemical nature and particle size. Diagn. Cytopathol. 2016;44:246–249. © 2015 Wiley Periodicals, Inc.     

Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients

The molecular characterization of the mutations in hemophilia A patients is hampered by the large size of the factor VIII gene and the great heterogeneity of mutations. In this study, we have performed a protocol involving multiplex polymerase chain reaction in which 19 exons were amplified in four different combinations followed by nonradioactive single-strand conformational polymorphism (SSCP) to screen for mutations. Southern blotting was used to detect inversion of the factor VIII gene resulting from recombination between copies of the gene A (F8A) located in intron 22 of the factor VIII gene and two copies close telomeric region of X chromosome. Forty-two hemophilia A patients (21 with severe and 21 with mild-to-moderate disease) were studied. The inversion of factor VIII occurred in 13 of 21 patients affected by severe hemophilia A. One patient showed a large extra band in addition to the three bands observed after Southern blotting with the F8A probe. An abnormal electrophoretic pattern of SSCP was detected in 85% and 50% of the patients affected by mild-to-moderate and severe disease, respectively. Sixteen different mutations were identified. Eleven mutations were novel and comprised 9 point mutations and 2 small deletions. This study shows that the methodology used is safe and rapid and has potential for detecting almost all of the genetic defects of the studied hemophilia A patients.     

Acquired homozygosity of the rearranged bcr allele during the acute leukemic phase of a patient with Ph-negative chronic myeloid leukemia

A 45-year-old male patient with Ph-negative chronic myeloid leukemia (CML) had rearranged bcr-3' and bcr-5' gene regions in Southern blot studies when leukemia was diagnosed. During development of terminal blast crisis, successive blood samples showed a progressive decrease in the amount of germline bcr DNA and its complete loss by full blast crisis. There were also increased amounts of rearranged bcr DNA consistent with acquired homozygosity. A similar result was obtained with an IgV lambda probe and indicated homozygosity of a significant part of chromosome 22. The bcr-abl gene complex behaves as a somatic dominant in CML, and we suggest that its acquired homozygosity is a mechanism of bcr-abl amplification similar to duplication of the Ph chromosome commonly found in the blast crisis of CML.     

The diabetes online community: the importance of forum use in parents of children with type 1 diabetes

Online forums for chronic health conditions emerged as early as 30 yr ago and interest in their study has blossomed. Type 1 diabetes (T1D) forums have grown exponentially since 2005. Therefore, a comprehensive evaluation of these forums is needed. This study assesses the demographics and motivations of parents who use type 1 diabetes forums and the potential impact that forum membership (FM) has on parenting stress and hypoglycemic fear. One hundred and two parents were recruited through online T1D forums and asked to complete qualitative and quantitative measures of their experience with the T1D forums. Results of this study suggest that parents who use T1D forums mirror those who participate in clinic‐based research protocols and are primarily motivated to participate in forums to increase their diabetes knowledge and gain social support. Indeed, parents who use T1D forums report high levels of trust, social support, and perceived knowledge gained. However, FM was positively related to increased self‐reported parenting stress frequency and hypoglycemic fear behaviors. Taken together, the relationships formed within these communities may have a significant impact on the experience of these caregivers. The need for future research and potential implications for physicians, including parent debriefing, are discussed.     

Pigmented Fungiform Papillae of the Tongue

Abstract: Pigmented fungiform papillae of the tongue is a benign condition characterized by localized hyperpigmentation confined to fungiform papillae. Although the condition is not rare and might be easily diagnosed in dark‐skinned adults and children, it is seldom mentioned in the medical literature. Here, we describe an 11‐year‐old boy presenting typical features of pigmented fungiform papillae of the tongue.     

Acrodermatitis Acidemica: Experience of 5 Years in Andalusia

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