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Atypical Clinical (atypical + clinical)

Distribution by Scientific Domains
Medical Sciences75%

Terms modified by Atypical Clinical

  • atypical clinical feature
    		•
  • atypical clinical presentation
    		•

    Selected Abstracts

    Interstitial lung disease,the new synergy between radiology and pathology

    HISTOPATHOLOGY, Issue 4 2006
    M Quigley
    In the last 30 years, high-resolution computed tomography (HRCT) has been the major advance in diagnosis of diffuse parenchymal lung disease (DPLD). We review the diagnostic accuracy of HRCT and discuss how the gold standard in diagnosis of DPLD has shifted from histopathological diagnosis in isolation to a multidisciplinary approach. This latter process is now accepted as providing the highest levels of diagnostic accuracy in patients with DPLD and lung biopsy is primarily reserved for cases with atypical clinical or radiological presentations. [source]

    Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency

    HUMAN MUTATION, Issue 4 2001
    Luigi D. Notarangelo
    Abstract During the last 10 years, an increasing number of genes have been identified whose abnormalities account for primary immunodeficiencies, with defects in development and/or function of the immune system. Among them is the JAK3 -gene, encoding for a tyrosine kinase that is functionally coupled to cytokine receptors which share the common gamma chain. Defects of this gene cause an autosomal recessive form of severe combined immunodeficiency with almost absent T-cells and functionally defective B-cells (T,B+ SCID). Herewith, we present molecular information on the first 27 unique mutations identified in the JAK3 gene, including clinical data on all of the 23 affected patients reported so far. A variety of mutations scattered throughout all seven functional domains of the protein, and with different functional effects, have been identified. Availability of a molecular screening test, based on amplification of genomic DNA, facilitates the diagnostic approach, and has permitted recognition that JAK3 deficiency may also be associated with atypical clinical and immunological features. Development of a structural model of the JAK3 kinase domain has allowed characterization of the functional effects of the various mutations. Most importantly, molecular analysis at the JAK3 locus results in improved genetic counseling, allows early prenatal diagnosis, and prompts appropriate treatment (currently based on hematopoietic stem cell transplantation) in affected families. Hum Mutat 18:255,263, 2001. © 2001 Wiley-Liss, Inc. [source]

    Disseminated dermal Trichophyton rubrum infection , an expression of dermatophyte dimorphism?

    JOURNAL OF CUTANEOUS PATHOLOGY, Issue 11 2010
    Joseph V. Lillis
    We present a case of disseminated dermal infection caused by Trichophyton rubrum (T. rubrum). This rare variant of dermatophytosis has an atypical clinical and histopathological presentation and occurs exclusively in immunosuppressed patients. The large, broad, pleomorphic hyphae with scattered budding arthrospores in this variant of T. rubrum infection are unusual and may represent expression of dermatophyte dimorphism previously described in vitro. Lillis JV, Dawson ES, Chang R, White Jr CR. Disseminated dermal Trichophyton rubrum infection,an expression of dermatophyte dimorphism? [source]

    Cutaneous pseudolymphoma in association with molluscum contagiosum in an elderly patient

    JOURNAL OF CUTANEOUS PATHOLOGY, Issue 7 2003
    D. Moreno-Ramírez
    Background:, Molluscum contagiosum (MC) is a common cutaneous infection, which has been reported in association with cutaneous pseudolymphoma in few cases. Methods:, A 72-year-old woman with a nodule arising on the external canthus was reviewed. The lesion was surgically removed, and the histopathological study demonstrated an epidermal invagination filled by molluscum bodies and a diffuse infiltrate comprising atypical lymphocytes. Results:, Immunohistochemical stains disclosed predominance of T cells with positive CD30 labeling. Polymerase chain reaction failed to demonstrate clonal rearrangement of the T-cell receptor. Conclusion:, After ruling out systemic involvement, the patient was followed up for 2 years with no evidence of recurrence. We report this case to the best of our knowledge and discuss the literature about atypical clinical and histological presentations of MC. [source]