Dystrophinopathies commonly present as Duchenne or Becker muscular dystrophy but rare, unusual phenotypes have also been described. We have identifi ed three Malaysian boys with an unusual form of dystrophinopathy, presenting with exercise-induced cramps and myoglobinuria, but with no apparent muscle weakness. Immunohistochemistry for dystrophin and genetic analysis confi rmed the diagnosis. The frequency of this phenotype is unknown but there have been several case reports. Consistent with these reports, we also found that two of our patients had deletions in the rod domain of dystrophin, which has been suggested to be associated with this unusual manifestation

Primary leiomyosarcoma of the nipple-areola complex is extremely rare. Less than ten such cases have been reported in English literature so far. Herein we describe a 52-year-old female presenting with a 1.5 cmx1.1 cmx0.7 cm nodular lesion over her left nipple, and leiomyosarcoma was proved by pathological examination of the excised specimen. Positron emitted tomogram (PET) revealed no abnormal signal other than the primary site. Microscopically, this poorly circumscribed tumor was composed of interlacing bundles of smooth muscle cells with bizarre and pleomorphic nuclei, as well as prominent nucleoli. Its mitotic count was up to 7 mitoses per 10 high power fields (HPF). Immunohistochemical study of tumor cells revealed positive stain for alpha-smooth muscle actin and vimentin; and negative for cytokeratin, CD34 and S-100. Left simple mastectomy was undertaken and no residual mass lesion was noted on the resected specimen. Related literatures about the diagnosis and treatment for breast leiomyosarcoma will be presented here.
Antigens, CD34 ; biosynthesis ; Breast ; pathology ; Breast Neoplasms ; diagnosis ; pathology ; Cell Nucleus ; metabolism ; Female ; Humans ; Immunohistochemistry ; methods ; Leiomyosarcoma ; diagnosis ; pathology ; Mastectomy ; Middle Aged ; Myocytes, Smooth Muscle ; pathology ; Nipples ; pathology ; S100 Proteins ; biosynthesis ; Smooth Muscle Tumor ; diagnosis ; pathology ; Treatment Outcome

BACKGROUND/AIMS: Environmental factors such as food, lifestyle and prevalence of Helicobacter pylori infection are widely different in Asian countries compared to the West, and physiological functions and genetic factors of Asians may also be different from those of Westerners. Establishing an Asian consensus for functional dyspepsia is crucial in order to attract attention to such data from Asian countries, to articulate the experience and views of Asian experts, and to provide a relevant guide on management of functional dyspepsia for primary care physicians working in Asia. METHODS: Consensus team members were selected from Asian experts and consensus development was carried out using a modified Delphi method. Consensus teams collected published papers on functional dyspepsia especially from Asia and developed candidate consensus statements based on the generated clinical questions. At the first face-to-face meeting, each statement was reviewed and e-mail voting was done twice. At the second face-to-face meeting, final voting on each statement was done using keypad voting system. A grade of evidence and a strength of recommendation were applied to each statement according to the method of the GRADE Working Group. RESULTS: Twenty-nine consensus statements were finalized, including 7 for definition and diagnosis, 5 for epidemiology, 9 for pathophysiology and 8 for management. Algorithms for diagnosis and management of functional dyspepsia were added. CONCLUSIONS: This consensus developed by Asian experts shows distinctive features of functional dyspepsia in Asia and will provide a guide to the diagnosis and management of functional dyspepsia for Asian primary care physicians.
Asia ; Asian Continental Ancestry Group ; Consensus ; Dyspepsia ; Electronic Mail ; Helicobacter pylori ; Humans ; Life Style ; Physicians, Primary Care ; Politics ; Prevalence