SummaryUpshaw-Schulman syndrome (USS) is a congenital thrombotic thrombocytopenic purpura (TTP) due to mutations in the gene that encodes for ADAMTS13 (ADAMTS13), but its clinical signs may be mild or absent during childhood. We have identified 37 patients with USS (24 females, 13 males) belonging to 32 families. The nine women from six families who were diagnosed during their first pregnancy are the focus of this report. Six of the nine women had episodes of thrombocytopenia during childhood misdiagnosed as idiopathic thrombocytopenic purpura. Thrombocytopenia occurred during the second-third trimesters in each of their 15 pregnancies, with 16 babies (one twin pregnancy), often followed by TTP. Of 15 pregnancies, eight babies were stillborn or died soon after birth, and the remaining seven were all premature except one, who was born naturally following plasma infusions to the mother that had started at 8 weeks' gestation. All nine USS women had severely deficient ADAMTS13 activity. ADAMTS13 analyses demonstrated that eight women were compound heterozygotes of Y304C/G525D (2 siblings), R125VfsX6/ Q1302X (2 siblings), R193W/R349C (2 siblings), I178T/Q929X, and R193W/A606P; one woman was homozygous for R193W. Only the R193W mutation has been previously reported. These observations emphasize the importance of measuring ADAMTS13 activity in the evaluation of thrombocytopenia during childhood and pregnancy.

The present analyses clearly indicate that OMBC is a distinct subgroup with long-term prognosis superior to MBC, with reasonable provability for clinical cure. Further prospective studies to better characterize OMBC are warranted to improve prognosis in MBC.

No abstract

BackgroundIt has been accepted that reversed halo sign (RHS) appeared on a computed tomography (CT) image in immunocompromised patients indicates an invasive fungal infection, but its pathophysiology remains obscure as to what this image implies. Therefore, the present report describes detailed radiological and histopathological findings of a case of invasive pulmonary mucormycosis (IPM) presenting RHS with comparison to those from a lesion of discrete nodule caused by invasive pulmonary aspergillosis (IPA), and discusses the pathophysiological implications of this characteristic image.Case presentationRHS had been clinically noted at the time of recovering of bone marrow function of a 64-year-old Japanese man who had chemotherapy for his acute lymphoblastic leukemia. Histological examination of the surgically removed lung revealed a lesion of IPM. This was composed of coagulation necrosis of septa at the center of lesion with preservation of air content which was encompassed outer rim comprising triplet structure; liquefaction, consolidation, and organization from the inner to the outer layer. In addition, Micro-CT examination confirmed reticular structure and monotonous high density at the central coagulation necrosis preserving air content and surrounding consolidation, and organization lesion of the IPM lesion.ConclusionOur investigations suggest that RHS might be understood as a kind of immune reconstitution syndrome and be the initial and prior status of air crescent sign.Virtual SlidesThe virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/3480054198968132

Dear Editor, Multiple myeloma, a B-cell malignancy characterized by clonal proliferation of plasma cells in the bone marrow, has been associated with unique clinicopathologic features, genetic abnormalities, and response to therapy [1][2][3]. Immunoglobulin D (IgD) myeloma is a rare disease, accounting for about 2% of all myelomas. Pleural effusions occur in 6% of myeloma patients. The etiology is multifactorial and effusions due to pleural myelomatous involvement are rare, occurring in <1% of the cases [4].We experienced a patient with IgD 1 multiple myeloma, which was first indicated by plasma cells in the peripheral blood. Furthermore, cytogenetic study of the pleural effusion revealed several abnormalities. We reviewed the clinical and cytogenetic features of this case and report the findings in detail.An 82-year-old man was admitted to our hospital in February 2002 with the chief complaint of dyspnea on effort and arrhythmia. His medical history included myocardial infarction in 1991. Chest X-ray results showed cardiomegaly and bilateral pleural effusion. He was diagnosed with acute heart failure as a result of previous myocardial infarction. The administration of diuretics and an antiarrhythmic resulted in a rapid improvement. However, the recovery did not last; the pleural effusion slowly increased and diuretics were ineffective. Moderate anemia worsened and transfusion was necessary. Hematological examination revealed plasma cells in the peripheral blood and a hematologist was consulted. On physical examination, there was anemia in the connective pulp, and heart sounds showed a systolic murmur. There was a decrease in breath sounds at the base of both lungs. Bilateral presidiapitting edema was evident. Hematological examination revealed anemia (hemoglobin 7.7 g/dl) with plasma cells in the peripheral blood (18%). Total serum protein was 6.0 g/dl with 64.9% albumin and 14.5% γ-globulin. Creatinine 1.35 mg/dl, blood urea nitrogen 27 mg/dl, uric acid 13.3 mg/dl, and lactate dehydrogenase 679 IU/L (reference range 230-460). Immunoelectrophoresis showed monoclonal IgD (λ) in the serum and Bence Jones protein (1) in the urine. Quantitative immunoglobulin determination showed a marked increase in IgD, 934 mg/dl, while IgG, IgA and IgM levels were decreased (Table 1). Bone marrow aspiration resulted in dry tap and biopsy results showed multiple myeloma. Chest X-ray results showed bilateral pleural effusion, whereas X-ray examination of the rest of the body was normal. Echocardiography results did not indicate amyloid deposition in the myocardium, but the ejection fraction was decreased because of a previous myocardial infarction.The patient also underwent thoracentesis. Cytological examination of the pleural effusion showed numerous plasma cells. There were two sizes of atypical plasma cells: small, round-shaped, mature plasma cells, and large, round-shaped, immature plasma cells. Clusters of differentiation 38 (CD38) and CD138 surface markers were investigated in the pleural effusion and found to be positive in...