Fetal valproate syndrome with reduction deformity of limb

A case is reported of a female infant having multiple anomalies, including epicanthic folds, hypertelorism, bifid nasal bridge, shallow philtrum, low-set ears, brain atrophy, cleft palate, hemangioma on the chest, and reduction deformity of the left upper limb. This is the first case where an infant who was exposed to sodium valproate intra-uterine has a reduction deformity of the upper limb.     

Albumin gene encoding free fatty acid and β-amyloid transporter is genetically associated with Alzheimer disease

Abstract  Alzheimer disease (AD), the major cause of dementia in the elderly, is characterized by β-amyloid deposition in senile plaques and hyperphosphorylated tau in neurofibrillary tangles. Since albumin, binding and transporting free fatty acids is also the major transporter of β-amyloid, we examined the association between the albumin ( ALB ) gene and the occurrence of late-onset AD (LOAD). We found that the allele distribution of the intron 4 microsatellite of the ALB gene showed a significant difference ( P  < 0.05) between LOAD ( n  = 285) and control group ( n  = 656). An allele with 11 CA repeat, termed (CA)₁₁ allele, was significantly predominant in the control group ( P  < 0.005), and the odds ratio carrying the (CA)₁₁ allele was 0.43 ( P  < 0.01, 95% CI = 0.24–0.79). Logistic regression indicated that this effect was independent of age and the ɛ4 dose of the apolipoprotein E gene ( P  < 0.01), while the ALB gene was supposed to be related to aging. Our results indicate that the ALB gene is genetically related with the occurrence of LOAD, supporting the link between fatty acid and β-amyloid transport in the development of LOAD.     

EARLY DIAGNOSIS AND TREATMENT OF ALCOHOLISM: THE JAPANESE EXPERIENCE

The current status and problems concerning the early identification,diagnosis and treatment of alcoholism in Japan are outlinedin this article. With regard to the early diagnosis of alcoholism,we focus on the following four aspects: (1) the drinking culturein Japan and the difficulties in early diagnosis of drinkingproblems because of this culture, (2) the social system whichserves to the early diagnosis of alcoholism, (3) the educationof specialists, and (4) screening tests and biological markersof alcoholism. The number of facilities offering specializedtreatment of alcoholics has sharply increased in recent years,but it is clear that such facilities are still not sufficientto meet the demand. It also emphasizes that diversificationof alcohol treatment facilities is essential to meet the therapeuticneeds of newly emerging subgroups such as women, young peopleand the elderly. Finally, the characteristics of the two self-helpgroups in Japan, Danshukai (Japan Sobriety Association) andAlcoholics Anonymous (AA), are described and compared.     

Traumatic rhabdomyolysis resulting from continuous compression in the exaggerated lithotomy position for radical perineal prostatectomy

This report demonstrates a case of rhabdomyolysis as a result of the exaggerated lithotomy position during radical perineal prostatectomy. The pathogenesis, diagnosis, management, and preventive measures of rhabdomyolysis are also reviewed.     

Macrocytosis Resulting from Early Denucleation of Erythroid Precursors

In an attempt to elucidate the mechanism of production of macrocytosis inacute anemia, we studied changes in red cell volume and hemoglobin content, the RNA level of normoblasts and reticulocytes and RNA synthesis inreticulocytes of rabbits made anemic by blood loss or phenylhydrazine administration. The results were as follows:

(1) In severe phenylhydrazine anemia, red cell volume and hemoglobincontent per cell increased to twice the normal values.

(2) The RNA level of normoblasts decreases with the maturation of thecells and reaches a minimum at the orthochromatic stage. The decrease issimilar in the normal and anemic rabbits.

(3) The RNA level of reticulocytes in the bone marrow is higher in anemicthan in normal rabbits. In general, the RNA level of reticulocytes of anemicrabbits is comparable to that of the polychromatic normoblasts, while in normal rabbits this value is comparable to that of orthochromatic normoblasts.

(4) Autoradiographs of reticulocytes incubated with H³-uridine indicatethat the increased level of reticulocyte RNA of anemic rabbits is not due tonewly synthesized RNA.

From these results, we conclude that in an "emergency" situation of erythropoietic stimulation denucleation of normoblasts occurs at the polychromaticstage of red cell maturation, with skipping of the terminal cell division toorthochromatic cells and formation of macrocytic reticulocytes and red cells.

Submitted on August 28, 1963 Accepted on April 30, 1964     

Correlation of middle latency auditory evoked potentials and cerebral blood flow changes

Abstract  The purpose of this study is to find the correlation between middle latency auditory evoked potentials (MLAEP) and sound activated single photon emission computed tomography (SPECT) studies. This study was performed on six normal right-handed volunteers with a mean age of 35.2 ± 7.6 years, using the split-dose technique. First, a SPECT study was performed on subjects in blinded, awake and silent states. After bilateral ears were stimulated with a click sound, MLAEP and a second SPECT study were performed. Subtraction of the first SPECT from the second SPECT revealed a statistically significant increase of cerebral blood flow (CBF) in the bilateral superior temporal region. Bilateral Na amplitudes of MLAEP had a statistically significant and good correlation with the percentages of CBF changes in the bilateral superior temporal region. The superior temporal cerebral blood flow activation can be expressed by electrophysiological activation. Moreover, correlation during the left Na components and left frontal and occipital lobe are discussed.     

Trypsin-like protease of mites: purification and characterization of trypsin-like protease from mite faecal extract Dermatophagoides farinae. Relationship between trypsin-like protease and Der f III

A serine protease from mite faecal extract, Dermatophagoides farinae, was purified using DEAE-Sephacel anion exchange chromatography and Superdex 75 pg gel chromatography. The molecular weight of this protease was 34 kD on SDS-PAGE under reducing conditions. The optimal pH and temperature of the protease were 8.0 and 47 degrees C, respectively. In addition, this protease cleaved arginyl or lysyl residue containing substrates selectively and was only inhibited by aprotinin, FUT-175, and soy bean trypsin inhibitor and not by chymostatin, E-64 and iodoacetic acid. These results show that our purified serine protease belongs to the trypsin-type. Purified trypsin-like protease was shown to be allergenic by enzyme-linked immunosorbent assay. Antigenicity of trypsin-like protease was completely different from those of Der f I and Der f II. Both, 20 N-terminal amino acid sequence and amino acid compositions of the purified protease were very similar to those of Der f III. Good similarities were found between trypsin-like protease and Der f III concerning physicochemical properties such as molecular weight on SDS-PAGE and ammonium sulphate solubility. Summarizing the above data, it can be concluded that a trypsin-like protease from mite faecal extract is actually the Der f III allergen and that it may be involved in the digestive process of the mite as it was found not in mite body but in mite faeces.     

Follow-up X Rays Play a Key Role in Detecting Implantable Cardioverter Defibrillator Lead Fracture:

MORISHIMA, I., et al .: Follow-up X Rays Play a Key Role in Detecting Implantable Cardioverter Defibrillator Lead Fracture: A Case of Incessant Inappropriate Shocks Due to Lead Fracture. A patient with an implantable cardioverter defibrillator (ICD) received incessant inappropriate shocks due to a lead fracture 3 years after implantation. Routine lead measurements at 3-month intervals had shown no abnormal findings even at the most recent measurement performed 2 months prior to the event. In contrast, serial observation of chest X rays clearly disclosed progressive lead narrowing starting 11 months prior to the event. This case indicates the importance of the routine chest X rays in long-term follow-up of ICDs and sets a precedent for interpreting lead narrowing in such X rays. (PACE 2003; 26[pt. I]:911–913)