We report an atypieal case of xanthoma without evidence of underlying disease, A 50-year-old asymptomatic, yellowish, flat plaques on the upper eyelids, trunk and thighs, and huge, deep-seated tumors on anterior aspect of the neck, back and ankle areas of 3 years duration. Biopsies were performed at the lesions of the neck and hack. Two biopsy specimens showed the same findings of xanthoma, respectively. The appearance of refrigerated serum was clear. Paper electrophoresis didn't show elevation of any lipoprotein, suggesting normolipoproteinemia.
Ankle ; Biopsy ; Electrophoresis, Paper ; Eyelids ; Humans ; Lipoproteins ; Middle Aged ; Neck ; Thigh ; Xanthomatosis*

Many reports have been found in the literature regarding the electrophoretic study of various urogenital diseases, but those on syphilis are relatively rare. It is author's opinion that the correlation between syphilis and the dysfunction of various organs must also be elucidated into detail. On this view point the author has studied the total protein and paper electrophoretic fractions of the serum derived from the patients of syphilis in 17 males and 5 females visited our department during the period from October, 1962 to September, 1964 Age distribution was between 18 and 45 years of age and duration of history was from 3 months to 8 months. The results obtained were as follows: 1. Total protein and electrophoretic fractions of 22 patients' serum: a) The amount of total protein decreased slightly. b) Albumin decreased markedly. c) Alpha 1 globulin decreased remarkably. d) Alpha 2 globulin decreased slightly. e) Beta globulin increased very remarkably. f) Gamma globulin increased markedly. g) A/G ratio decreased very remarkably. All of the above patterns were compared with normal rate. 2. Total protein and electrophoretic fractions of same 22 patients' serum in duration 30 days after complete therapy: a) The amount of total protein, albumin alpha 2 globulin, gamma globulin and A/G ratio etc. are unchanged b) Alpha 1 globulin decreased markedly. c) Beta globulin increased slightly. All of the above pattern were compared with normal rate.
Age Distribution ; Beta-Globulins ; Electrophoresis, Paper ; Female ; gamma-Globulins ; Humans ; Male ; Syphilis

Adult ; Blood Glucose ; analysis ; Diabetes Mellitus ; blood ; Electrophoresis, Agar Gel ; Electrophoresis, Paper ; Female ; Hemoglobin A ; analysis ; Humans ; Male

We report a case of generalized plane xanthoma which showed no-rmolipoproteinemia and was not associated with unerlying disorders or other type of xanthomas. A 48-year-old female has noticed well defined, slightly elevated, yellowish plaques which occurred on the periorbital areas, sides of the neck, scapular areas, anterior chest, buttocks and lower extremities for 3 years. Biopsy specimen taken from the neck showed perivascular accumulations of foam cells in the upper and mid dermis. Paper electrophoresis didn't, show elevation of any lipoprotein.
Biopsy ; Buttocks ; Dermis ; Electrophoresis, Paper ; Female ; Foam Cells ; Humans ; Lipoproteins ; Lower Extremity ; Middle Aged ; Neck ; Thorax ; Xanthomatosis*

A stout and obese fourty five year-old Korean man was affected with hyperlipoproteinemia type III. His skin lesion showed yellowish papular eruptive xanthomas with erythematous halo located chiefly on the trunk and extensor aspects of the extremities including both palms. In addition to the skin lesion he showed pea-sized cervical lymphnode swellings, slightly tessellated fundi and, on ECG, premature ventricular contraction. Otherwise no specific findings were seen. The laboratory examinations showed increases of both serum cholesterol and triglycerides, increased fasting blood sugar level and abnormal glucose tolerance curve with turbid color of fasting blood serum which had been kept standing at 4C for 24 hours. On the paper electrophoresis "broad beta band" blending with the pre-beta area was noted. The authors discussed laboratory characteristics, clinical manifestations and differential diagnosis of primary hyperlipoproteinemia on each type with review of the literatures of the disease.
Blood Glucose ; Cholesterol ; Diagnosis, Differential ; Electrocardiography ; Electrophoresis, Paper ; Extremities ; Fasting ; Glucose ; Hyperlipoproteinemia Type III* ; Hyperlipoproteinemias ; Lipoproteins, LDL* ; Serum ; Skin ; Triglycerides ; Ventricular Premature Complexes ; Xanthomatosis

A 43 year-old Korean male has had multiple, grouped, asymptomatic, yellowish brown flat papules and nodules on the knees, elbows, buttocks, palms and soles for 3 years. Small yeIlowish, discrete papules first appeared on the right palm and left elbow, and gradually increased in size and number and spread to knees, buttocks and soIes. Physical examination revealed normal except for the skin lesions and no familial occurrence was noted. Gross finding of the serum was turbid, more or less creamy and paper electrophoresis revealed marked increase of prebetalipoprotein, increase of betalipoprotein and alphalipoprotein and absence of chylomicron, suggesting type III or type IV hyperlipoproteinemia. Serem choleterol was 200mg% and fasting blood sugar was 115.0mg%. with normal glucose tolerance test. Histopathology showed many aggregates of foam cells on H-E stain and many lipid droplets in the dermis on Sudan red stain. Based on the clinical and histopathological findings and lipoprotein analysis by the paper electrophoresis, the patient was diagnosed as type IV hyperlipoproteinemia with xanthoma tuberosum.
Adult ; Blood Glucose ; Buttocks ; Dermis ; Elbow ; Electrophoresis, Paper ; Fasting ; Foam Cells ; Glucose Tolerance Test ; Humans ; Hyperlipoproteinemia Type IV ; Knee ; Lipoproteins ; Male ; Physical Examination ; Skin ; Sudan ; Xanthomatosis*

A 22-year-old male has had multiple, grouped, asymptomatic, yellowish flat papules, nodules, and plaques on the knees, elbows, butteeks, hands, and feet. Yellowish nodules first appeared on the heels after birth, and gradually increased in size and number and spread to the knees, elbows, buttocks, and hands. Physical examination revealed normaI except for the skin lesions. Gross finding of the serum was clear and paper electrophoresis revealed marked increase in betalipo-protein and mild increase in prebetalipoprotein, suggesting type II hyperlipoproteinemia Serum cholesterol was 510 mg%, and serum triglyceride was 190mg%. Histopathology showed many aggregates of foam cells on H-E stain and many lipid droplets in the dermis on oil red O stain.
Buttocks ; Cholesterol ; Dermis ; Elbow ; Electrophoresis, Paper ; Foam Cells ; Foot ; Hand ; Heel ; Humans ; Hyperlipoproteinemia Type II* ; Knee ; Male ; Parturition ; Physical Examination ; Skin ; Triglycerides ; Xanthomatosis* ; Young Adult

Single nucleotide polymorphisms (SNPs) is a new genetic marker system following RFLP and microsatellite polymorphism. It has been shown to have the characteristics of high-density, inheritance stability and facilitation in analysis automation. SNPs can be detected by electrophoresis, endonuclease-cleavage, PCR and sequencing, and can be used extensively in gene mapping, disease-correlativity analysis, population genetics and drug research.
Chromosome Mapping ; Genetic Markers ; Genetics, Population ; Humans ; Polymorphism, Single Nucleotide

Single nucleotide polymorphisms (SNPs) are the 3rd generation of molecular genetic markers of human populations.SNPs determine the functional units of genes and the inherent characteristics of genetic variation, and reflect the individual phenotype, disease susceptibility and differences of response to drug and environmental factors. Hematological malignancy is a multi-gene genetic diseases, and involve in the role of multigenic susceptible genes. This review intends to introduce the single nucleotide polymorphisms and their relevant progress of research on hematologic malignancies, including the SNP of carcinogen-metabolizing enzymes genes, the SNP of DNA repair genes, the SNP of oncogenes and anti-oncogene genes, the SNP of drug-metabolizing enzyme genes and so on.
Chromosome Mapping ; Genetic Predisposition to Disease ; Hematologic Neoplasms ; genetics ; Humans ; Polymorphism, Single Nucleotide

For many psychiatric and other traits, diagnoses are based on a number of different criteria or phenotypes. Rather than carrying out genetic analyses on the final diagnosis, it has been suggested that relevant phenotypes should be analyzed directly. We provide an overview of statistical methods for the joint analysis of multiple phenotypes in case-control association studies.
Chromosome Mapping ; Genome-Wide Association Study ; Humans ; Phenotype ; Polymorphism, Single Nucleotide ; Schizophrenia ; genetics