Hemophilia A is a bleeding disorder resulting from a congenital deficiency of factor VIII. The mainstay of successful hemophilia therapy for either treatment or prevention of acute hemorrage is prompt and sufficient intravenous replacement of factor VIII to hemostatic levels. One of the most serious complications of hemophilia and its therapy is the development of polyclonal antibodies to factor VIII that neutralize factor coagulant activity. APCCs is otherwise known as bypass therapy, products that bypass the requirement for factor VIII for clot formation and moderately effective in controlling bleeding in high inhibitor patients. We experienced a case of hemophilia A with high inhibitor titer in a 13 year-old boy who presented with incarcerated right inguinal hernia and a successful therapeutic effect of APCCs(Autoplex) for controlling post-operative hemorrhages.
Adolescent ; Antibodies ; Factor VIII ; Hemophilia A* ; Hemorrhage ; Hernia, Inguinal ; Humans ; Male

No Abstract available.
Signal Transduction*

Primary oxalosis is a rare genetic disorder caused by a deficiency of the peroxisomal enzyme alanine-glyoxylate aminotransferase(type I) and D-glyceric dehydrogenase(type II). It is characterized by the triad of radiopaque urolithiasis, nephrocalcinosis, and latered renal function. We report a case of primary oxalosis in a 10-year-old Korean girl. She presented with chronic renal failure at 9 years of age. Ultrasonographic examination revealed bilateral, multiple renal and ureteral stones. Removed stones were chemically analysed to be composed of calcium oxalate. She underwent renal transplantation after prolonged period of dialysis. Removed kidneys were firm and gritty. Cut sections showed numerous tiny yellow sandy stones and a large staghorn stone. Specimen X-ray also exhibited disseminated fine granular and often coalescent radiopaque materials throughout the cortex and medulla. Microscopically numerous varying-sized crystals were noted in the kidney in globular or rhomboid appearance. The crystals were semitranslucent and doubly refractile under the polarized light. Diffuse interstitial fibrosis and chronic inflammation as well as glomerular obsolescence were also noted. The oxalate deposit was diffuse and marked, and was thought to be intimately related to the parenchymal damage and fibrosis.

Porphyromonas gingivalis is strongly implicated in the pathogenesis of adult periodontitis, the major cause of tooth loss in adults. Use of an antibacterial agent controlling P. gingivalis as a periodontal therapeutic agent has been rationalized. The present study was performed to observe the antibacterial effect of inorganic polyphosphates (polyP) on P. gingivalis. P. gingivalis 2561 was grown in half-strength brain-heart infusion broth containing hemin and vitamin K with or without polyP. Minimal inhibitory concentration (MIC) of polyP with various chain lengths was determined by measuring the absorbance of the grown cells at 540 nm. MIC of polyP for the bacterium was determined to be 0.05%. The effect of polyP with a chain length of 75 (polyP 75) was further examined. PolyP 75 added to the growing culture of P. gingivalis at its exponential phase was as effective in inhibiting the growth of P. gingivalis as polyP 75 added at the very beginning of the culture. More than 99% of the cells lost their viability determined by viable cell count when polyP 75 was added to the culture of growing P. gingivalis at the concentration of 0.06%, suggesting that polyP 75 has a bactericidal effect on the bacterium. Intracellular nucleotide release from the cells was increased by approx. 20% in the presence of polyP 75 but was not reversed by the addition of divalent cations like Ca++ and Mg++. Under the transmission electron microscope, only a small number of the growing P. gingivalis cells were actually lysed. However, the majority of the cells appeared to be atypical in their shape, demonstrating accumulation of highly electron-dense granules and bodies of condensed nucleic acid-like material in the cytoplasm. In the presence of polyP 75, the protein profile of P. gingivalis was changed as determined by SDS-polyacrylamide gel electrophoresis and immunoblot, and the proteolytic activity of the bacterium demostrated on the zymograms was decreased. The overall results suggest that polyP have a strong bactericidal activity against P. gingivalis in which lysis in relation to chelation may not play the major role but unknown mechanism that possibly affects the viability of the bacterium may be involved. PolyP may be used as an agent for prevention and treatment of periodontitis.
Adult ; Cations, Divalent ; Cell Count ; Chronic Periodontitis ; Cytoplasm ; Electrophoresis ; Hemin ; Humans ; Periodontitis ; Polyphosphates* ; Polyps ; Porphyromonas gingivalis* ; Porphyromonas* ; Tooth Loss ; Vitamin K

No abstract available.
Autopsy* ; Cardiomyopathies* ; Humans ; Infant, Newborn*

No abstract available.
Lung* ; Tracheoesophageal Fistula*

Laminin-1 is biologically active and can effect cellular proliferation, differentiation, migration, and apoptosis. In the central nervous system, neuronal cells are rarely reported to give positive reaction by laminin antibody staining. However, the original cell type which can produce the laminin molecule has not been well established. Since the neuronal cells of brain are derived from neuroectoderm, we thought that the neuronal cells should be able to produce the laminin molecules as other epithelial cells. In this study we aimed to explore whether the neuronal cells express the laminin chain mRNAs, and further to identify which types of laminin isoform are expressed at the specific sites of the brain structure. We found that neuronal cell was the important cell type in mouse brain, which could produce laminin isoforms. Although immunostainings disclosed reactivity of laminins in the basement membrane of capillaries as well as neuronal cells, mRNA expressions of laminins were intense only in the neuronal cells. It was relatively weak in the endothelial cells. Among neuronal cells the cortical cells of cerebrum, pyramidal cells of hippocampus, and Purkinje cells of cerebellum showed pronounced expression of laminin chain mRNA. Glial cells, especially astrocytes, were negative for laminin subtypes both in immunohistochemistry and in situ hybridization. Taken together, our data indicate that the neuronal cells of mouse brain actively produce laminin isoforms, and the resultant polymerized laminins are accumulated mainly in the basement membrane of capillaries. In conclusion, the results indicate that neuronal cells produce and utilize the different laminin chains to maintain the neurovascular environment of brain.
Animals ; Apoptosis ; Astrocytes ; Basement Membrane ; Brain* ; Capillaries ; Cell Proliferation ; Central Nervous System ; Cerebellum ; Cerebrum ; Endothelial Cells ; Epithelial Cells ; Hippocampus ; Immunohistochemistry ; In Situ Hybridization ; Laminin* ; Mice* ; Neural Plate ; Neuroglia ; Neurons* ; Polymers ; Protein Isoforms ; Purkinje Cells ; Pyramidal Cells ; RNA, Messenger

No abstract available.
MELAS Syndrome*

In contrast to the nodular renal blastema which is defined by nests of primitive metanephric cells after 36 weeks of gestation, the nephroblastomatosis is characterized by neoplastic proliferation of the primitive cells. This lesion is presumed to be closely related to the development of Wilms' tumor. We report a case of bilateral nephroblastomatosis associated with Wilms' tumor in a child. This 4 1/2 year-old girl was admitted because of a 10 cm-sized round mass in the right kidney, and smaller nodules in the left kidney and the lung. After three cycles of chemotherapy and subsequent disappearance of the nodules in the left kidney and lung, she underwent a right nephrectomy and a wedge resection of the left kidney. A round Wilms' tumor mass was seen in the lower pole of the right kidney. Remaining right renal cortex showed multiple, slightly depressed gray-white nodules associated with multiple samll cysts. They were comprised of multifocal subcapsular nests of primitive nephrogenic cells with focal tubular or glomerular differentiation. They resembled fetal renal tissue. In the left kidney, similar nests of primitive cells were also noted. These lesions were interpreted as multifocal perilobar type of nephroblastomatosis.
Child ; Male ; Female ; Humans

A relationship between preceding acute paralytic poliomyelitis and the later development of motor neuron disease has only occasionally been suggested since it was first postulated by Charcot in 1875. The authors recently experienced a 20-year-old male who was considered to have postpoliomyelitis muscular atrophy. We report this case in view of its rarity and necessity of differential diagnosis from other neuromuscular disorders. Clinical presentation included slowly progressive muscle wasting of left thigh for 4 years, mild weakness of left arm and both thigh, intermittent fasciculation, and previous history of acute paralytic poliomyelitis. Electromyographic findings showed fibrillation potentials, positive sharp waves, fasciculations, giant motor unit potentials and reduced interference patterns. Muscle biopsy revealed scattered small angulated fibers, individual myofiber degeneration and mild inflammatory cell infiltration.
Arm ; Biopsy ; Diagnosis, Differential ; Fasciculation ; Humans ; Male ; Motor Neuron Disease ; Poliomyelitis ; Postpoliomyelitis Syndrome* ; Thigh ; Young Adult