No abstract available.
Dermoscopy* ; Diagnosis

No abstract available.
Polyarteritis Nodosa*

Epstein's syndrome is a rare disease whish is characterized by the association of thrombocytopenia, macrothrombocytopathia, nephritis and deafness. We experienced a case of Epstein's syndrome in a 12 years old male patient who was presented with a life long history of bleeding, usually as epistaxis, bilateral sensorineural deafness and hematuria with proteinuria starting in late childhood. Hematologic studies showed thrombocytopenia with giant platelets and anemia. A bone marrow aspirate revealed the megakaryocytes to be adequate in number and many giant size platelets. Platelet do not respond to addition of A and epinephrine; collagen and ristocetin induced agglutination response is decreased. It is difficult to be certain the association of thrombocytopenia with giant platelets, nephritis and deafness constitutes a new hereditary disease with a distinct pathogenesis or if it is an expansion of the well recognized Alport's syndrome of hereditary nephritis deafness. We report a case of Epstein's syndrome syndrome with brief review of related literatures.
Agglutination ; Anemia ; Blood Platelets ; Bone Marrow ; Child ; Collagen ; Deafness ; Epinephrine ; Epistaxis ; Genetic Diseases, Inborn ; Hematuria ; Hemorrhage ; Humans ; Male ; Megakaryocytes ; Nephritis ; Nephritis, Hereditary ; Proteinuria ; Rare Diseases ; Ristocetin ; Thrombocytopenia

No abstract available.
Nevus, Blue* ; Nose*

No abstract available.
Hyperlipoproteinemia Type IV* ; Hyperlipoproteinemias ; Xanthomatosis*

No abstract available.

This study was performed to determine the effect of isoflavone on bone mineral density and bone mineral content in growing male rats. Twenty male, Sprague-Dawley rats were assigned to groups, that underwent 9 weeks of experi-ental treatment. Animals were assigned to one of two diet groups (casein group or casein supplemented with isoflavones). During 9 week of the study, food consumption was determined every other day through the measurement of total food given subtracting the food uneaten from original amount given. Rats in two experimental groups had similar initial body weights. At the end of experiment, however, the casein group had significantly greater body weights compared to casein supplemented with isoflavones group. It was also observed that the casein group had greater food intake comared to casein supplemented with isoflavones group. The difference in the final body weights of the groups was thereore due to difference in amount of food ingested, but could be due to the effect of isoflavones. Total BMD, spine BMD, and spine BMC per weight and femoral BMD per weight were significantly greater in casein supplemented with isolaones group than casein group. ALP and osteocalcin were significantly greater in the casein-fed group. Crosslink value was significantly lower in the casein supplemented with isoflavones group. All other variables were statistically similar between two groups. Overall, it can be concluded that casein supplemented with isoflavones beneficial for acquisition of bone mineral density and content on growing male rats.
Animals ; Body Weight ; Bone Density* ; Caseins ; Diet ; Eating ; Humans ; Isoflavones ; Male* ; Osteocalcin ; Rats* ; Rats, Sprague-Dawley ; Spine

No abstract available.
B-Lymphocytes* ; Lymphoma, B-Cell* ; Waldenstrom Macroglobulinemia*

Trimethylaminuria (TMAuria), known as “fish odor syndrome,” is a congenital metabolic disorder characterized by an odor resembling that of rotting fish. This odor is caused by the secretion of trimethylamine (TMA) in the breath, sweat, and body secretions and the excretion of TMA along with urine. TMAuria is an autosomal recessive disorder caused by mutations in flavin-containing monooxygenase 3 (FMO3). Most TMAuria cases are caused by missense mutations, but nonsense mutations have also been reported in these cases. Here, we describe the identification of a novel FMO3 gene mutation in a patient with TMAuria and her family. A 3-year-old girl presented with a strong corporal odor after ingesting fish. Genomic DNA sequence analysis revealed that she had compound heterozygous FMO3 mutations; One mutation was the missense mutation p.Val158Ile in exon 3, and the other was a novel nonsense mutation, p.Ser364X, in exon 7 of the FMO3 gene. Familial genetic analyses showed that the p.Val158Ile mutation was derived from the same allele in the father, and the p.Ser364X mutation was derived from the mother. This is the first description of the p.Ser364X mutation, and the first report of a Korean patient with TMAuria caused by novel compound heterozygous mutations.
Alleles ; Child, Preschool ; Codon, Nonsense ; Exons ; Fathers ; Female ; Humans ; Korea* ; Mothers ; Mutation, Missense ; Odors* ; Sequence Analysis, DNA ; Sweat

PURPOSE: We performed a study of clinical findings of Mycoplasma Pneumonia in children, to know differences between recent clinical manifestations of Mycoplasma pneumonia and previous studies. METHODS: The subjects of this study were 393 children who were diagnosed as Mycoplasma pneumonia with high titers of Mycoplasma antibody (> or = 1: 160) or fourfold rises of Mycoplasma antibody at Chung Ang University Hospital from January 1998 to December 2003. We practiced a retrospective study on the clinical manifestations of Mycoplasma pneumonia based on their medical records. RESULTS: Male to female ratio was 1.06 to 1 and mean age was 4.32+/-2.94 years. The highest incidence was in the age of 2 to 3 years (18.6 percent). Most frequent months were October, and November in 2000, April in 2002, and October and, December in 2003. Twenty six point seven percent showed allergic diseases. Second degree relatives of 10.7 percent patients had allergic diseases. Forty three point three percent were admitted before this admission for pneumonia. Allergic tests were positive in 65.7 percent. Cough, and sputum were the most common symptoms and abdominal pain, and vomiting were the most frequent extrapulmonary symptoms. Atelectasis and pleural effusion were seen in 2.5 percent and 1.8 percent. Infiltrations were more common on the right side. Titers of each simultaneous test for cold agglutinin and mycoplasma antibody were not in proportion to each other (P=0.163). CONCLUSION: The onset age of mycoplasma pneumonia was found to be lower than it used to be. More patients had a past medical history or a family history of allergic disease, and more wheezing was heard and associated with recurrent pneumonia.
Abdominal Pain ; Age of Onset ; Child* ; Cough ; Female ; Humans ; Incidence ; Male ; Medical Records ; Mycoplasma pneumoniae ; Mycoplasma* ; Pleural Effusion ; Pneumonia ; Pneumonia, Mycoplasma* ; Pulmonary Atelectasis ; Respiratory Sounds ; Retrospective Studies ; Sputum ; Vomiting