We experienced two cases of factor XI deficiency in a 5 yearr 7 month-old girl, whose chief complaint was coke-colored gross hematuria, and her 9-year-old elder sister. The laboratory findings were prolonged aPTT and prominent deficiency of factor XI. The gross hematuria of the index case was identified due to acute poststreptococcal glomerulonephritis. So we report two cases of factor XI deficiency with a brief review of the related literature.
Child ; Factor XI Deficiency* ; Factor XI* ; Female ; Glomerulonephritis ; Hematuria ; Humans ; Infant ; Siblings*

Familial hemophagocytic lymphohistiocytosis (FHL) is a fatal illness with a median life expectancy of 2 months if not treated. However, with the recent employment of allogeneic bone marrow transplantation in the treatment of FHL, even complete cure might be anticipated. We report here a case of prolonged remission following autologous peripheral blood stem cell transplantation (Auto-PBSCT) which was first attempted for FHL in Korea. A 4-month-old girl presented with high fever and a huge hepatosplenomegaly. Bone marrow examination revealed the proliferation of both non-malignant histiocytes engulfing red blood cells and lymphocytes. Her brother died at the age of 18 months showing quite similar manifestations. A diagnosis of FHL was made. Following 8 courses of chemotherapy with multiple drugs, Auto-PBSCT was performed. She has been well without any evidence of disease over 8 months of post- transplant period. This case illustrates that it might be worth trying Auto- PBSCT in the treatment of FHL.
Bone Marrow Examination ; Bone Marrow Transplantation ; Diagnosis ; Drug Therapy ; Employment ; Erythrocytes ; Female ; Fever ; Histiocytes ; Humans ; Infant* ; Korea ; Life Expectancy ; Lymphocytes ; Lymphohistiocytosis, Hemophagocytic* ; Peripheral Blood Stem Cell Transplantation* ; Siblings

Objective: The heart contains a pool of c-kit+ progenitor cells which is believed to be able to regenerate. The differentiation of these progenitor cells is reliant on different physiological cues. Unraveling the underlying signals to direct differentiation of progenitor cells will be beneficial in controlling progenitor cell fate. In this regard, the role of the mitochondria in mediating cardiac progenitor cell fate remains unclear. Specifically, the association between changes in mitochondrial morphology with the differentiation status of c-kit+ CPCs remains elusive. In this study, we investigated the relationship between mitochondrial morphology and the differentiation status of c-kit+ progenitor cells. Methods: and Results: c-kit+ CPCs were isolated from 2-month-old male wild-type FVB mice. To activate differentiation, CPCs were incubated in α-minimal essential medium containing 10 nM dexamethasone for up to 7 days. To inhibit Drp1-mediated mitochondrial fragmentation, either 10 μM or 50 μM mdivi-1 was administered once at Day 0 and again at Day 2 of differentiation. To inhibit calcineurin, either 1 μM or 5 μM ciclosporin-A (CsA) was administered once at Day 0 and again at Day 2 of differentiation. Dexamethasone-induced differentiation of c-kit+ progenitor cells is aligned with fragmentation of the mitochondria via a calcineurin-Drp1 pathway. Pharmacologically inhibiting mitochondrial fragmentation retains the undifferentiated state of the c-kit+ progenitor cells. Conclusions The findings from this study provide an alternative view of the role of mitochondrial fusion-fission in the differentiation of cardiac progenitor cells and the potential of pharmacologically manipulating the mitochondria to direct progenitor cell fate.

PURPOSE: Infantile transient methemoglobinemia(ITM) may develop in association with infectious diarrhea without exposure to any toxic oxidizing agents. We observed that the number of ITM associated with infectious diarrhea have increased at the Gyeongsang National University Hospital (GNUH), located in the western area of Kyungnam province during the last 4 years. To determine whether this phenomenon was similarily observed in the rest of Kyungnam province, we studied the incidence of ITM associated with infectious diarrhea over the last 10 years in Kyungnam Provine. METHODS: All cases with ITM associated with infectious diarrhea were enrolled for this study from Ulsan Donggang Hospital(UDH), Masan Samsung Hospital(MSH), and GNUH over the last 10 years. Their medical records were reviewed retrospectively. RESULTS: Six and twelve cases were identified at UDH and GNUH, respectively, while none were identified at MSH. All the infants were less than 2 months of age and prosented with severe mucoid diarrhea with metabolic acidosis, high C-reactive protein(CRP) concentrations and/or leukocytosis with shift to left. Twelve cases were identified to reveal stool leukocytosis at UGH and GNUH. Eight cases had histories of ingestion of well water. Nine cases occurred in the spring season (May, April, March). Before 1996, a total of six cases occurred at UDH. But one case in 1990 and eleven cases occurred during 1996-99 at GNUH. The increase in the incidence of ITM associated with infectious diarrhea paralleled the increase in the infectious diarrhea in infants during 1996-99 at GNUH. CONCLUSION: The increased in the incidence of ITM associated with infectious diarrhea during the last4 years at GNUH was not observed in other parts of Kyungnam province. Infectious diarrhea, severe acidosis, severe dehydration, cow milk feeding, the spring season and ingestion of well water were considered to be important associateion factors of ITM.
Acidosis ; Dehydration ; Diarrhea* ; Eating ; Gyeongsangnam-do* ; Humans ; Incidence* ; Infant ; Leukocytosis ; Medical Records ; Melanocyte-Stimulating Hormones ; Methemoglobinemia* ; Milk ; Oxidants ; Retrospective Studies ; Seasons ; Ulsan

Malignant ectomesenchymoma is a rare tumor originating from remnants of migratory neural crest(ectomesenchyme) and composed of neuroectodermal as well as mesenchymal components. Neuroblasts and ganglion cells constitute the neuroectodermal components and rhabdomyosarcoma is the most frequently encountered mesenchymal components. We report a case of malignant ectomesenchymoma in a two-month-old boy who was presented with abdominal pain and urinary difficulty. The tumor appeared to arise from the prostatic region and enlarged to compress the bladder leading to bilateral hydronephrosis. Immunohistochemical studies for the resected tumor confirmed the presence of mixed ganglioneuroma and rhabdomyosarcoma establishing the diagnosis of malignant ectomesenchymoma. However, in the initial biopsy specimen of tumor, poorly differentiated round to oval cells positive for both desmin and vimentin staining were uniformly noted and the incorrect diagnosis of rhabdomyosarcoma was made. Intensive multi-agents chemotherapy, surgery and radiotherapy had failed in preventing the development of local recurrences. Subsequently, invasion of pubic bone and lung metastases ensued. This report enlightens the need for immunohistochemistry to seek possible neuroectodermal components in a tumor specimen suggestive of rhabdomyosarcoma.
Abdominal Pain ; Biopsy ; Desmin ; Diagnosis ; Drug Therapy ; Ganglion Cysts ; Ganglioneuroma ; Humans ; Hydronephrosis ; Immunohistochemistry ; Lung ; Male* ; Neoplasm Metastasis ; Neural Plate ; Pubic Bone ; Radiotherapy ; Recurrence ; Rhabdomyosarcoma ; Urinary Bladder ; Vimentin

A biosynthetic gene cluster for the bioactive fungal sesterterpenoids variecolin ( 1) and variecolactone ( 2) was identified in Aspergillus aculeatus ATCC 16872. Heterologous production of 1 and 2 was achieved in Aspergillus oryzae by expressing the sesterterpene synthase VrcA and the cytochrome P450 VrcB. Intriguingly, the replacement of VrcB with homologous P450s from other fungal terpenoid pathways yielded three new variecolin analogues ( 5- 7). Analysis of the compounds' anticancer activity in vitro and in vivo revealed that although 5 and 1 had comparable activities, 5 was associated with significantly reduced toxic side effects in cancer-bearing mice, indicating its potentially broader therapeutic window. Our study describes the first tests of variecolin and its analogues in animals and demonstrates the utility of synthetic biology for creating molecules with improved biological activities.