Fetal hemoglobin (HbF) levels determined in healthy Japanese adults ranged from 0.3% to 16.0% as F cells and 0.17% to 2.28% as HbF content, which were the same as those obtained in other countries. The frequency distribution of 300 healthy adults with various numbers of F cells consisted statistically of two different groups, low and high F-cell groups. Individuals with greater than or equal to 4.4% of F cells (HbF about 0.7%) were defined as the high F-cell trait, which accounted for 11.3% of males and 20.7% of females. Family studies of 21 probands with this trait and sex-different frequency analyses in the population and probands revealed X-linked dominant inheritance. Two other families of the trait associated with color blindness were described, although no definitive evidence for linkage was obtained between the two. A review of population and family studies reported in the literature indicated that persons with Swiss-type hereditary persistence of fetal hemoglobin (HPFH) are of the same kind as this trait in their incidence and inheritance form, but represent a portion of the trait with higher levels of HbF or F cells. The existence of X chromosome-localized regulatory gene(s) for the developmental switch of human Hb production is discussed.
A case of Schönlein-Henoch Purpura (SHP) in a 32 year-old female, showing gastrointestinal manifestations including acute vasculitic cholecystitis was reported. In the course of hospitalization urgent laparotomy was performed because of the severe abdominal pain. The gallbladder was inflamed with a brownish-red edematous wall and subserosal hemorrhage, and was resected. Histological examination of the resected gallbladder specimen revealed leucocytoclastic vasculitis. The patient was treated with prednisolone postoperatively, and symptoms abated over two weeks. Acute cholecystitis with SHP is extremely rare, and as far as the authors know this is the second case of this disorder documented by histological examination. Patients with acute abdomen associated with SHP should be managed with consideration of the complications of acute cholecystitis.
A new variant of apolipoprotein £ (apo E), named apo E-Kochi, was identified in the sera of a 29-yearold male with hyperlipoproteinemia as characterized by a broad-beta band. The characteristic double bands of apo E were seen in the isoelectric focusing gel of very low density lipoprotein from the proband and three members of his family. Of the double bands from the probands, the more cationic component was identical to ordinary apo E3 and the other anionic band was located at approximately a distance of one-half charge to the anode side. This anionic band is a new electrophoretical isoform of apo E (apo E-Kochi), and the molecular weight by sodium dodecyl sulfate electrophoresis and its antigenicity against anti apo E serum are the same as apo E3. Sequence analysis of lysyl endopeptidase fragments showedthat apo E-Kochi differs from normal apo E3 at residue 145, where an arginine residue is substituted for histidine.
A 66-year-old right-handed womanwith amnestic syndrome due to right thalamic infarction, is described. Amnestic syndrome in this case was both anterograde verbal and non-verbal (visuospatial) memoryimpairment in the acute stage and only non-verbal impairmentin the chronic stage. On the basis of these observations and previous reports, it was concluded that her memoryimpairment may be the result of cortical hypometabolism following thalamic infarction.
SummaryWe determined plasma apolipoprotein H (/~2-glycoprotein I) levels in 300 healthy adult individuals and evaluated the frequencies of the Bg N and Bg D alleles in a Japanese population. These results were then compared with the previous reports. The plasma apo H levels in the subjects showed bimodal distribution: 274 subjects were in the range 15.6-33.2 mg/dl and were considered to be homozygous for Bg N (phenotype NN), and 26 subjects were found in the range 9.6-14.8 mg/dl and were presumably heterozygous for Bg N and Bg D (phenotype ND). In this study, no sample below 5 mg/dl (phenotype DD) was found. Mean plasma apo H levels in NN and ND groups were 22.1 + 1.6 mg/dl and 12.5_+ 1.6 mg/dl, respectively. The gene frequencies of Bg N and Bg D in a Japanese population were 0.957 and 0.043, respectively. These results were similar to gene frequencies of Bg ~ and Bg D in Caucasoids.
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