No abstract

Two cases of red cell aldolase deficiency associated with congenital nonspherocytic hemolytic anemia are reported. The proband is a fourteen-month-old Japanese boy. Consanguineous marriage was not proven but probable in this family, as the parents were born in the same small island. The proband had moderate to mild anemia aggravated by upper respiratory infections, 1 cm hepatomegaly and 2.5 cm splenomegaly, but was unremarkable in other respects and has thus far not shown mental or growth retardation. He did not have dysmorphic features. The red cell aldolase activity was 6% of the normal mean. The enzyme was unstable with respect to heat, and Km for fructose 1,6-diphosphate (F-1,6-DP) was high. The parents and other heterozygotes showed intermediate activity between that of the proband and that of normal subjects. Red cell F-1,6-DP concentration in this case was remarkably increased. Red cell glucose consumption, and lactate formation, as well as hexose monophosphate shunt activity, were decreased as compared with a comparable reticulocyte-rich hereditary spherocytosis patient. Hexose monophosphate dehydrogenase by a high concentration of F-1,6-DP in his red cells. As a result of family study, another homozygous aldolase deficiency case associated with hemolytic anemia was found. He is 13 years old and a nephew of the proband's paternal grandmother. His hemolytic anemia also is moderate to mild and aggravated by upper respiratory infections. He does not seem to have mental or growth retardation, nor does he possess dysmorphic features.

The authors present the histologic features, immunohistochemical findings, and ultrastructure of a carcinosarcoma of the gallbladder containing rhabdomyosarcoma as a mesenchymal element. A pedunculated polypoid tumor protruded into the lumen from the fundus of the gallbladder. The neoplasm contained two divergent components. One was malignant mesenchymal tissue with rhabdomyoblastic differentiation; the other was ordinary adenocarcinoma which was observed predominantly at the base of the polyp. Immunohistochemically, the cytoplasm of the rhabdomyoblasts stained with anti-myoglobin, myosin, and muscle actin antibodies. Ultrastructurally, there were a large number of malignant mesenchymal tissues in which various stages of differentiated rhabdomyoblasts were noted. Ultrastructural study was particularly valuable for the identification of sarcomatous elements.

A simple method was developed to purify human megakaryocytes to homogeneity from normal bone marrow aspirates. An initial separation of marrow between 1.020 and 1.050 g/ml. Percoll density cut was used to enrich megakaryocytes. After washing, the cells were suspended with immunomagnetic beads which were coated with sheep anti-mouse IgG antibody and treated with anti-human glycoprotein (GP) IIb/IIIa monoclonal antibody, or the cells were treated with human platelet GP IIb/IIIa monoclonal antibody and suspended with the immunomagnetic beads which were coated with sheep anti-mouse IgG antibody. Megakaryocytes were selectively separated using a magnet. All of the isolated cells were morphologically recognizable megakaryocytes. 1.5-3.1 x 10(4) megakaryocytes were obtained from 1.7-4.5 x 10(8) bone marrow nuleated cells. These cells were all positive in immunoenzymatic staining for GP IIb/IIIa. Megakaryocytes obtained by this method responded to recombinant human GM-CSF (rhGM-CSF) showing an increased 3H-thymidine (3H-dT) incorporation. These data show that this method is useful for obtaining pure megakaryocyte populations which can be submitted to comprehensive biological studies.

We performed a retrospective, observational study of patients who had spent > 14 days in the paediatric intensive care unit (PICU) of our hospital from 2011 to 2013. Specifically, long-term mortality, functional outcome, and PICU resource occupancy were examined. All prolonged-stay patients in our study were < 15 years of age. Favourable outcomes were defined as a Pediatric Overall Performance Category (POPC) score of 1-2, and unfavourable outcomes as a POPC score of 3-6 or death. During the study period, there were 1082 PICU admissions involving 805 patients, 111 (13.8%) of whom had one or more prolonged PICU stays. Among these patients, 100 (90%) survived to PICU discharge and 92 (83%) survived to hospital discharge. At the 3-year follow-up, the survival rate was 75% (77/102; nine patients were lost to follow-up) and the favourable outcome rate was 43% (44/ 102) (57% among survivors). Prolonged PICU-stay patients accounted for 50.5% of the PICU patient-days. Extremely prolonged stays (≥ 28 days) correlate with low favourable outcome rates (P = 0.03), but did not correlate with mortality rates (P = 0.16).Conclusion: Although prolonged PICU-stay patients utilized many PICU resources, most survived at least 3 years, and > 50% of the survivors had a favourable functional outcome (POPC score). What is Known:• The number of patients with prolonged paediatric intensive care unit (PICU) stays is increasing.• These patients utilize many resources and are at high risk for mortality and disabilities. What is New:• Although prolonged-stay patients accounted for 50% of PICU patient-days, their 3-year survival rate and favourable functional outcome rate (based on Pediatric Overall Performance Category scores) were relatively high. • Extremely prolonged stays (≥ 28 days) correlate with low favourable functional outcomes but not with mortality.