Linear Congenital Molluscum Contagiosum on the Coccygeal Region

Congenital molluscum contagiosum is rare but has been reported previously. We present a unique case of linear congenital molluscum on the coccygeal region. To make a correct diagnosis, avoid unnecessary examination, and start appropriate treatment as soon as possible, it is beneficial for dermatologists to be aware that molluscum contagiosum can present at birth and can be linear.     

Rheological analyses of coagulation of blood from different individuals with special reference to procoagulant activity of erythrocytes.

In our previous papers, we reported that factor IX (FIX), when activated by erythrocyte membranes, causes coagulation. We have identified and characterized the FIX-activating enzyme located in normal human erythrocyte membranes. In this paper, to examine physiological and pathological significances of procoagulant activity of erythrocytes, coagulation of blood obtained from different individuals was analyzed by means of a rheological technique. In more than 65% of subjects including normals and patients, the initiation of coagulation seemed to be governed by erythrocytes. Coagulation of whole blood and platelet-free plasma supplemented with erythrocytes had a tendency to occur rapidly in the elderly. It was suggested that the concentration of FIX-activating enzyme on erythrocyte membranes for aged donors was somewhat higher than that for young ages. Propagation reactions on erythrocyte membranes (i.e. factor X activation leading to thrombin generation after FIX activation) was slower than that on platelet membranes. Moreover, the propagation reaction on erythrocyte membranes was greatly dependent on individuals, whereas that on platelet membranes was not so much. Our study demonstrates that the activation of FIX by erythrocytes and subsequent propagation reaction on platelet membranes may be important for initiating and controlling blood coagulation reactions.     

Determination of protoporphyrins in blood using HPLC. Standardization of protoporphyrins and interlaboratory comparison of analyses]

1) In order to compare the results of determination of protoporphyrin IX (PP) and zinc protoporphyrin IX (ZP) using HPLC, the preparation procedures for standard solutions of PP and ZP were studied at four laboratories. According to the methods mutually agreeable to the four laboratories, the absorption values using UV-Vis spectrometer from the 4 laboratories were found to be identical. 2) The total of 28 whole blood samples obtained from the same workers whose Pb-B levels ranged from 2.9 to 87.9 micrograms/dl were sent to the 4 laboratories for determination of PP and ZP. The laboratories were allowed to use their own HPLC apparatus, column, mobile phase and fluorometric detectors, although the same procedures were used to prepare the standard solutions of PP and ZP. The results showed that significant biases in ZP and PP levels were found between two out of the 4 laboratories, but the ZP values corrected by the recovery rate showed no statistical difference among the laboratories. 3) Blood levels of ZP, total protoporphyrin (TP, calculated by PP+ZP/1.1), and PP determined by HPLC method correlated well with free erythrocyte protoporphyrin (FEP) determined by the method of extraction into the acidic solvent. The correlation coefficients between Pb-B and log TP, ZP, FEP or PP were 0.82-0.84, 0.80-0.83, 0.786, or 0.70-0.73, respectively. 4) The coincident ratios of PP/TP obtained at 4 laboratories ranged from 12.1 to 19.0%. These values were within a relatively narrow range, although two different kinds of organic solvents (DMF: N',N'-dimethylformamide or Methanol/triton-X 100) were used in the extraction steps.(ABSTRACT TRUNCATED AT 250 WORDS)     

Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation

Congenital nystagmus is characterized by involuntary, rhythmical, repeated oscillations of one or both eyes. We studied a large Chinese family with nystagmus as a prominent and consistent manifestation phenotype in nine patients to map and identify a disease-causing gene for nystagmus. X-linked recessive inheritance was observed in the family, and foveal hypoplasia was detected in some of the nine patients. The disease gene was mapped to an approximately 10.6 Mb region flanked by DXS996 and DXS7593 on Xp22 with a significant peak multipoint LOD score. Analysis of 21 candidate genes in the region revealed a novel p.S89F mutation in the second transmembrane domain of GPR143, a G protein-coupled receptor which causes ocular albinism when mutated. All male patients in the family were hemizygous for the mutation; the female carriers were heterozygous for the mutation. The p.S89F mutation was not identified in 100 normal females or 100 normal males. Our results indicate that a mutation in the GPR143 gene can cause a variant form of ocular albinism, with congenital nystagmus as the most prominent and only consistent finding in all patients in this Chinese family. These results expand the spectrum of clinical phenotypes associated with GPR143 mutations. J.Y. Liu and X. Ren contributed equally to this work.