Datasets:

MedRAG

/

pubmed

like 37

pubmed23n0125_13877

Effects of workload and analysis time on the cost of out-of-hours investigations.

In the UK, under present Whitley Council Regulations for payment for out-of-hours pathology services, there is a complex relationship between the number of requests received, the time taken to analyse each request, and the number of calls for which payment may be claimed for work done. At a fixed average analysis time, the rate of increase of remuneration slows down as workload increases until at higher workloads remuneration falls. The introduction of methods with a shorter average analysis time to improve the clinical service increases remuneration disproportionately. We suggest that a fixed sessional payment would be a better way of funding the service.

Effects of workload and analysis time on the cost of out-of-hours investigations. In the UK, under present Whitley Council Regulations for payment for out-of-hours pathology services, there is a complex relationship between the number of requests received, the time taken to analyse each request, and the number of calls for which payment may be claimed for work done. At a fixed average analysis time, the rate of increase of remuneration slows down as workload increases until at higher workloads remuneration falls. The introduction of methods with a shorter average analysis time to improve the clinical service increases remuneration disproportionately. We suggest that a fixed sessional payment would be a better way of funding the service.

pubmed23n0125_13878

HDL-cholesterol subfractions in healthy males: relation to serum triglyceride levels and age.

The relationship between plasma HDL-cholesterol subfractions (HDL2 and HDL3), measured using a differential precipitation method, and serum triglycerides, was studied in 402 healthy Caucasian males attending a health screening centre in London. Mean values for HDL2 and HDL3 were 0.42 +/- 0.24 mmol/L and 0.81 +/- 0.15 mmol/L respectively. HDL2 was found to show a stronger negative correlation with serum triglyceride and a stronger positive correlation with total HDL than HDL3. HDL2 also showed a stronger correlation with age than either total HDL or HDL3. Mean levels of HDL2 were 20% higher in subjects over 55 years of age compared with those who were less than 55 years of age. Reference values of HDL2 and HDL3 are presented for different age ranges.

HDL-cholesterol subfractions in healthy males: relation to serum triglyceride levels and age. The relationship between plasma HDL-cholesterol subfractions (HDL2 and HDL3), measured using a differential precipitation method, and serum triglycerides, was studied in 402 healthy Caucasian males attending a health screening centre in London. Mean values for HDL2 and HDL3 were 0.42 +/- 0.24 mmol/L and 0.81 +/- 0.15 mmol/L respectively. HDL2 was found to show a stronger negative correlation with serum triglyceride and a stronger positive correlation with total HDL than HDL3. HDL2 also showed a stronger correlation with age than either total HDL or HDL3. Mean levels of HDL2 were 20% higher in subjects over 55 years of age compared with those who were less than 55 years of age. Reference values of HDL2 and HDL3 are presented for different age ranges.

pubmed23n0125_13879

A method for the identification of apolipoprotein E isoforms employing chemical precipitation and flat bed isoelectric focusing in agarose.

A method is described for the identification of apolipoprotein E phenotypes. Lipoproteins were precipitated by magnesium chloride/phosphotungstate reagent and isoelectric focusing performed on flat-bed agarose. Sensitivity was enhanced by blotting with nitrocellulose prior to staining. The system described requires no ultracentrifugation step and allows up to 20 samples to be processed in each run. Agarose has some advantages over the more commonly used polyacrylamide gels for isoelectric focusing.

A method for the identification of apolipoprotein E isoforms employing chemical precipitation and flat bed isoelectric focusing in agarose. A method is described for the identification of apolipoprotein E phenotypes. Lipoproteins were precipitated by magnesium chloride/phosphotungstate reagent and isoelectric focusing performed on flat-bed agarose. Sensitivity was enhanced by blotting with nitrocellulose prior to staining. The system described requires no ultracentrifugation step and allows up to 20 samples to be processed in each run. Agarose has some advantages over the more commonly used polyacrylamide gels for isoelectric focusing.

pubmed23n0125_13880

The use of different lipids to express serum tocopherol: lipid ratios for the measurement of vitamin E status.

Plasma tocopherol was measured in 85 alcoholic patients and 40 control subjects from a local factory. Cholesterol, triglycerides and phospholipids were measured individually and summed to give an estimate of total serum lipids. Plasma tocopherol concentrations of the alcoholics were significantly lower than those of the controls and showed wide variation from marked deficiency to the upper limit of the normal range. Using regression analysis, 1.11 mumol tocopherol/mmol total lipids were calculated as the threshold of deficiency equivalent to 0.8 mg tocopherol/g total lipid established by Horwitt et al. The sensitivity and specificity of other tocopherol:lipid ratios for identifying vitamin E deficiency was compared with the tocopherol:total lipid ratio. Thresholds of deficiency for the different tocopherol:lipid ratios were calculated. The tocopherol:cholesterol+triglyceride ratio was found to be almost as powerful in identifying vitamin E deficiency as the tocopherol:total lipid ratio (sensitivity 95%, specificity 99%). Of the tocopherol:individual lipid ratios, the tocopherol:cholesterol ratio gave the best results (sensitivity 86%, specificity 94%).

The use of different lipids to express serum tocopherol: lipid ratios for the measurement of vitamin E status. Plasma tocopherol was measured in 85 alcoholic patients and 40 control subjects from a local factory. Cholesterol, triglycerides and phospholipids were measured individually and summed to give an estimate of total serum lipids. Plasma tocopherol concentrations of the alcoholics were significantly lower than those of the controls and showed wide variation from marked deficiency to the upper limit of the normal range. Using regression analysis, 1.11 mumol tocopherol/mmol total lipids were calculated as the threshold of deficiency equivalent to 0.8 mg tocopherol/g total lipid established by Horwitt et al. The sensitivity and specificity of other tocopherol:lipid ratios for identifying vitamin E deficiency was compared with the tocopherol:total lipid ratio. Thresholds of deficiency for the different tocopherol:lipid ratios were calculated. The tocopherol:cholesterol+triglyceride ratio was found to be almost as powerful in identifying vitamin E deficiency as the tocopherol:total lipid ratio (sensitivity 95%, specificity 99%). Of the tocopherol:individual lipid ratios, the tocopherol:cholesterol ratio gave the best results (sensitivity 86%, specificity 94%).

pubmed23n0125_13881

delta-Aminolaevulinic acid dehydratase as an index of the presence and severity of lead poisoning in acute and chronic lead exposure.

The activity of delta-aminolaevulinic acid dehydratase (ALA-D; porphobilinogen synthase) was measured in whole blood from a group of workers with acute exposure to lead and with low blood lead levels, a group of workers with chronic lead exposure and high blood lead levels, and a group of people without undue environmental lead exposure. The activity of ALA-D was reduced significantly at low blood lead levels only if undue exposure to lead had occurred, and was thus a reflection of low level lead poisoning. In chronic lead exposure the enzyme was not invariably reactivated fully with dithiothreitol, indicating more severe enzyme poisoning. The one lead worker with symptomatic lead poisoning had the most marked enzyme suppression. Measurement of both ALA-D activity and blood lead levels was more useful than the measurement of blood lead levels alone in the diagnosis and assessment of the severity of lead poisoning.

delta-Aminolaevulinic acid dehydratase as an index of the presence and severity of lead poisoning in acute and chronic lead exposure. The activity of delta-aminolaevulinic acid dehydratase (ALA-D; porphobilinogen synthase) was measured in whole blood from a group of workers with acute exposure to lead and with low blood lead levels, a group of workers with chronic lead exposure and high blood lead levels, and a group of people without undue environmental lead exposure. The activity of ALA-D was reduced significantly at low blood lead levels only if undue exposure to lead had occurred, and was thus a reflection of low level lead poisoning. In chronic lead exposure the enzyme was not invariably reactivated fully with dithiothreitol, indicating more severe enzyme poisoning. The one lead worker with symptomatic lead poisoning had the most marked enzyme suppression. Measurement of both ALA-D activity and blood lead levels was more useful than the measurement of blood lead levels alone in the diagnosis and assessment of the severity of lead poisoning.

pubmed23n0125_13882

Simple screening methods for hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase deficiencies using dried blood spots on filter paper.

Simple methods for the detection of hypoxanthine-guanine phosphoribosyltransferase and/or adenine phosphoribosyltransferase deficiencies using dried filter paper blood spots were studied. Enzyme activities in the eluate from dried filter paper blood spots stored for 4 weeks at room conditions were shown to be quite stable. Autoradiographs prepared from dried filter paper blood spots and DE-81 papers soaked with enzyme reaction mixtures containing 14C-hypoxanthine and/or 14C-adenine showed sharp radioactive spots in normal subjects. No activity was evident in the cases of the Lesch-Nyhan syndrome and/or adenine phosphoribosyltransferase deficiency. The methods seem to be suitable for screening.

Simple screening methods for hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase deficiencies using dried blood spots on filter paper. Simple methods for the detection of hypoxanthine-guanine phosphoribosyltransferase and/or adenine phosphoribosyltransferase deficiencies using dried filter paper blood spots were studied. Enzyme activities in the eluate from dried filter paper blood spots stored for 4 weeks at room conditions were shown to be quite stable. Autoradiographs prepared from dried filter paper blood spots and DE-81 papers soaked with enzyme reaction mixtures containing 14C-hypoxanthine and/or 14C-adenine showed sharp radioactive spots in normal subjects. No activity was evident in the cases of the Lesch-Nyhan syndrome and/or adenine phosphoribosyltransferase deficiency. The methods seem to be suitable for screening.

pubmed23n0125_13883

The adjusted serum calcium concept--a reappraisal.

The relationship between serum calcium and albumin was studied using a data base containing biochemical results on approximately 687,000 samples. To exclude patients with established bone, liver and kidney disease, calcium and albumin values had to be accompanied by additional results falling within the laboratory reference range for urea, phosphate, globulin, alkaline phosphatase and aspartate transaminase activities. The regression coefficients of calcium on albumin changed significantly following a change of instrumentation, even though the analytical principles of the methods remained the same. In addition, using standard laboratory methods, the relationship between calcium and albumin deviated from linearity at albumin concentrations less than 30 g/L. Care is needed in the selection and clinical application of factors for the adjustment of serum calcium for changes in the concentration of circulating albumin. Using a large data base, an albumin-related reference range for serum calcium may be calculated, eliminating the need for adjusting calcium values.

The adjusted serum calcium concept--a reappraisal. The relationship between serum calcium and albumin was studied using a data base containing biochemical results on approximately 687,000 samples. To exclude patients with established bone, liver and kidney disease, calcium and albumin values had to be accompanied by additional results falling within the laboratory reference range for urea, phosphate, globulin, alkaline phosphatase and aspartate transaminase activities. The regression coefficients of calcium on albumin changed significantly following a change of instrumentation, even though the analytical principles of the methods remained the same. In addition, using standard laboratory methods, the relationship between calcium and albumin deviated from linearity at albumin concentrations less than 30 g/L. Care is needed in the selection and clinical application of factors for the adjustment of serum calcium for changes in the concentration of circulating albumin. Using a large data base, an albumin-related reference range for serum calcium may be calculated, eliminating the need for adjusting calcium values.

pubmed23n0125_13884

Measurement of erythrocyte acetylcholinesterase and plasma cholinesterase activity by a differential pH technique.

We describe a new electrochemical method for the determination of erythrocyte acetylcholinesterase activity (EC 3.1.1.7) and plasma cholinesterase (EC 3.1.1.8) activity, based on the measurements of pH variation due to release of acetic acid from acetylcholine. The major advantages of the differential pH procedure are simplicity, high reproducibility, no need for pre-treatment of samples, automatic correction of sample blanks, and speed and direct measurement of enzymatic reaction. The proposed methods are linear up to 7400 U/L at 30 degrees C and correlate well with the manual spectrophotometric method of Ellman for plasma cholinesterase and for washed erythrocytes. We adapted the same technique for the determination of erythrocyte cholinesterase using whole blood as sample and quinidine sulphate as inhibitor of pseudocholinesterase.

Measurement of erythrocyte acetylcholinesterase and plasma cholinesterase activity by a differential pH technique. We describe a new electrochemical method for the determination of erythrocyte acetylcholinesterase activity (EC 3.1.1.7) and plasma cholinesterase (EC 3.1.1.8) activity, based on the measurements of pH variation due to release of acetic acid from acetylcholine. The major advantages of the differential pH procedure are simplicity, high reproducibility, no need for pre-treatment of samples, automatic correction of sample blanks, and speed and direct measurement of enzymatic reaction. The proposed methods are linear up to 7400 U/L at 30 degrees C and correlate well with the manual spectrophotometric method of Ellman for plasma cholinesterase and for washed erythrocytes. We adapted the same technique for the determination of erythrocyte cholinesterase using whole blood as sample and quinidine sulphate as inhibitor of pseudocholinesterase.

pubmed23n0125_13885

The interpretation of bloodspot 17 alpha-hydroxyprogesterone levels in term and pre-term neonates.

Bloodspot 17 alpha-hydroxyprogesterone, plasma cortisol, plasma sodium and urinary 17 alpha-hydroxyprogesterone, cortisol, sodium and creatinine levels were determined in 24 term and 32 pre-term infants on the third, eighth and fourteenth days of life. Pre-term infants, whether 'well' or 'sick', had significantly raised bloodspot 17 alpha-hydroxyprogesterone levels (up to 158 nmol/L) compared with those found in term infants (up to 18.8 nmol/L). Urinary 17 alpha-hydroxyprogesterone creatinine ratios were also higher in pre-term infants. Plasma cortisol results showed similar ranges for term and pre-term infants, and bloodspot 17 alpha-hydroxyprogesterone/plasma cortisol ratios for day 3 specimens correlated with the degree of prematurity. These results may be due either to immature enzyme systems in the pre-term baby or to an excess of related steroids cross-reacting in the 17 alpha-hydroxyprogesterone assay. We propose the use of two distinct upper limits of normal of 20 nmol/L (term infants) and 200 nmol/L (pre-term infants), for the interpretation of bloodspot 17 alpha-hydroxyprogesterone levels at the end of the first week of life.

The interpretation of bloodspot 17 alpha-hydroxyprogesterone levels in term and pre-term neonates. Bloodspot 17 alpha-hydroxyprogesterone, plasma cortisol, plasma sodium and urinary 17 alpha-hydroxyprogesterone, cortisol, sodium and creatinine levels were determined in 24 term and 32 pre-term infants on the third, eighth and fourteenth days of life. Pre-term infants, whether 'well' or 'sick', had significantly raised bloodspot 17 alpha-hydroxyprogesterone levels (up to 158 nmol/L) compared with those found in term infants (up to 18.8 nmol/L). Urinary 17 alpha-hydroxyprogesterone creatinine ratios were also higher in pre-term infants. Plasma cortisol results showed similar ranges for term and pre-term infants, and bloodspot 17 alpha-hydroxyprogesterone/plasma cortisol ratios for day 3 specimens correlated with the degree of prematurity. These results may be due either to immature enzyme systems in the pre-term baby or to an excess of related steroids cross-reacting in the 17 alpha-hydroxyprogesterone assay. We propose the use of two distinct upper limits of normal of 20 nmol/L (term infants) and 200 nmol/L (pre-term infants), for the interpretation of bloodspot 17 alpha-hydroxyprogesterone levels at the end of the first week of life.

pubmed23n0125_13886

An improved method for measurement of common tricyclic antidepressant drugs and their metabolites using normal phase HPLC.

A sensitive HPLC method that allows the simultaneous determination of imipramine, amitriptyline and their desmethyl metabolites, using a 10 cm straight silica cartridge column with a mobile phase consisting of 0.004% perchloric acid in methanol is presented. Detection of the eluent is at 210 nm. The drugs are back-extracted from serum, giving both a good recovery and sensitivity of at least 5 micrograms/L. This method has proved to be extremely robust and reliable, with coefficients of variation around 3% being reported.

An improved method for measurement of common tricyclic antidepressant drugs and their metabolites using normal phase HPLC. A sensitive HPLC method that allows the simultaneous determination of imipramine, amitriptyline and their desmethyl metabolites, using a 10 cm straight silica cartridge column with a mobile phase consisting of 0.004% perchloric acid in methanol is presented. Detection of the eluent is at 210 nm. The drugs are back-extracted from serum, giving both a good recovery and sensitivity of at least 5 micrograms/L. This method has proved to be extremely robust and reliable, with coefficients of variation around 3% being reported.

pubmed23n0125_13887

Mobile phase optimisation in the separation of antiepileptic drugs by high-performance liquid chromatography.

A simple method is described for adjusting the mobile phase composition to obtain optimum separation of commonly prescribed antiepileptic drugs by high-performance liquid chromatography. The drugs are separated, in less than 6 min, on a column of Hypersil ODS 5 microns (100 mm X 5 mm i.d.) with a high mobile phase flow rate. The final mobile phase composition is a mixture of methanol, acetonitrile, tetrahydrofuran and water, adjusted to give the best separation with our laboratory conditions. The method is described and evidence of precision and accuracy presented. The improved separation resolves the major metabolites of carbamazepine which have been ignored in most methods for antiepileptic drugs. The advantages of mobile phase optimisation to improve the separation of antiepileptic drugs are discussed.

Mobile phase optimisation in the separation of antiepileptic drugs by high-performance liquid chromatography. A simple method is described for adjusting the mobile phase composition to obtain optimum separation of commonly prescribed antiepileptic drugs by high-performance liquid chromatography. The drugs are separated, in less than 6 min, on a column of Hypersil ODS 5 microns (100 mm X 5 mm i.d.) with a high mobile phase flow rate. The final mobile phase composition is a mixture of methanol, acetonitrile, tetrahydrofuran and water, adjusted to give the best separation with our laboratory conditions. The method is described and evidence of precision and accuracy presented. The improved separation resolves the major metabolites of carbamazepine which have been ignored in most methods for antiepileptic drugs. The advantages of mobile phase optimisation to improve the separation of antiepileptic drugs are discussed.

pubmed23n0125_13888

Changes in plasma and buffy layer vitamin C concentrations following major surgery: what do they reflect?

Plasma and buffy layer vitamin C concentrations have been measured in 19 patients before and following major surgery, and falls of 36% and 43% respectively were recorded on the first post-operative day. However, the change in the buffy layer could not be accounted for by a change in the concentration of vitamin C in platelets, mononuclear cells or polymorphonuclear leucocytes, the cell types which form the buffy layer. The buffy layer change could be explained by a post-surgical increase in the number of polymorphonuclear leucocytes which, when the buffy layer vitamin C is expressed per 10(8) white cells, dilutes the platelet and mononuclear cell contribution to the buffy layer vitamin C concentration. The fall in buffy layer vitamin C does not, therefore, reflect any increased demand for white cell vitamin C in the immediate post-operative period, although the decrease in plasma vitamin C could imply some increased utilisation or redistribution of the non-cellular compartment.

Changes in plasma and buffy layer vitamin C concentrations following major surgery: what do they reflect? Plasma and buffy layer vitamin C concentrations have been measured in 19 patients before and following major surgery, and falls of 36% and 43% respectively were recorded on the first post-operative day. However, the change in the buffy layer could not be accounted for by a change in the concentration of vitamin C in platelets, mononuclear cells or polymorphonuclear leucocytes, the cell types which form the buffy layer. The buffy layer change could be explained by a post-surgical increase in the number of polymorphonuclear leucocytes which, when the buffy layer vitamin C is expressed per 10(8) white cells, dilutes the platelet and mononuclear cell contribution to the buffy layer vitamin C concentration. The fall in buffy layer vitamin C does not, therefore, reflect any increased demand for white cell vitamin C in the immediate post-operative period, although the decrease in plasma vitamin C could imply some increased utilisation or redistribution of the non-cellular compartment.

pubmed23n0125_13889

Bence Jones protein detection: a rapid immunoblotting technique for routine use on unconcentrated urine.

A new immunoblotting method is described for the detection of Bence Jones proteinuria by the routine laboratory. Unconcentrated urine specimens are subjected to electrophoresis on agarose gels. Separated proteins are transferred to a nitrocellulose membrane and the immunoglobulins located and identified by horseradish-peroxidase double-antibody staining. The new method has been compared with that used routinely, and an improved rate of detection of both Bence Jones protein and intact urinary monoclonal immunoglobulin has been obtained. Among urine specimens received for routine testing for Bence Jones protein from 83 patients, 64 monoclonal components were found by the new technique compared with 45 by the method used routinely. Other advantages of the new procedure include: no need to concentrate urine specimens before electrophoresis; unlike immunofixation, the proteins may be detected successfully over a wide concentration range without using several specimen or antibody dilutions; and interpretation is easier.

Bence Jones protein detection: a rapid immunoblotting technique for routine use on unconcentrated urine. A new immunoblotting method is described for the detection of Bence Jones proteinuria by the routine laboratory. Unconcentrated urine specimens are subjected to electrophoresis on agarose gels. Separated proteins are transferred to a nitrocellulose membrane and the immunoglobulins located and identified by horseradish-peroxidase double-antibody staining. The new method has been compared with that used routinely, and an improved rate of detection of both Bence Jones protein and intact urinary monoclonal immunoglobulin has been obtained. Among urine specimens received for routine testing for Bence Jones protein from 83 patients, 64 monoclonal components were found by the new technique compared with 45 by the method used routinely. Other advantages of the new procedure include: no need to concentrate urine specimens before electrophoresis; unlike immunofixation, the proteins may be detected successfully over a wide concentration range without using several specimen or antibody dilutions; and interpretation is easier.

pubmed23n0125_13890

External quality assessment of serum enzyme activity assays and the effect of calibration on interlaboratory concordance.

The design and results of a UK external quality assessment scheme for six enzymes are described, from 21 surveys over a period of 7 years. Improvements in interlaboratory agreement and the adoption of reliable methods are documented. The potential of enzyme calibration materials in further improving numerical concordance between laboratories using different assay conditions, including temperature, is demonstrated and discussed.

External quality assessment of serum enzyme activity assays and the effect of calibration on interlaboratory concordance. The design and results of a UK external quality assessment scheme for six enzymes are described, from 21 surveys over a period of 7 years. Improvements in interlaboratory agreement and the adoption of reliable methods are documented. The potential of enzyme calibration materials in further improving numerical concordance between laboratories using different assay conditions, including temperature, is demonstrated and discussed.

pubmed23n0125_13891

Evaluation of the computing aspects of automatic analysers.

Modern automatic analysers are making increasing use of microprocessor technology, which is difficult for the user, or even computer scientists, to evaluate. This paper offers some practical advice for the prospective purchaser on how to assess the capabilities and limitations of the computer hardware and software provided in such instruments, and considers some of the problems of interfacing an analyser to a laboratory computer system.

Evaluation of the computing aspects of automatic analysers. Modern automatic analysers are making increasing use of microprocessor technology, which is difficult for the user, or even computer scientists, to evaluate. This paper offers some practical advice for the prospective purchaser on how to assess the capabilities and limitations of the computer hardware and software provided in such instruments, and considers some of the problems of interfacing an analyser to a laboratory computer system.

pubmed23n0125_13892

Salivary androgens in hirsutism: are they of use in routine evaluation?

In the biochemical evaluation of hirsutism, 50% or less of patients have an elevated total serum testosterone. Recent work has suggested that measuring salivary testosterone or a derived serum 'free testosterone index' may be of use in the evaluation of hyperandrogenism. We have measured serum total, derived serum free indices and salivary concentrations of testosterone and 5 alpha-dihydrotestosterone in an unselected group of hirsute patients in order to assess their value in the routine evaluation of hirsutism. The assays were performed using a novel oxidation procedure to overcome the need for chromatographic separation. The 'free testosterone index' gave the best discrimination. Salivary androgen concentrations were comparatively poor and cannot be recommended for routine use.

Salivary androgens in hirsutism: are they of use in routine evaluation? In the biochemical evaluation of hirsutism, 50% or less of patients have an elevated total serum testosterone. Recent work has suggested that measuring salivary testosterone or a derived serum 'free testosterone index' may be of use in the evaluation of hyperandrogenism. We have measured serum total, derived serum free indices and salivary concentrations of testosterone and 5 alpha-dihydrotestosterone in an unselected group of hirsute patients in order to assess their value in the routine evaluation of hirsutism. The assays were performed using a novel oxidation procedure to overcome the need for chromatographic separation. The 'free testosterone index' gave the best discrimination. Salivary androgen concentrations were comparatively poor and cannot be recommended for routine use.

pubmed23n0125_13893

Indoles in the photoreceptor cells of the lamprey pineal complex.

In the pineal complex of the brook lamprey, the hydroxyindole-0-methyltransferase (involved in the biosynthesis of 5-methoxyindoles) displays a daily rhythm of activity with a nocturnal peak, during a light/dark cycle and in constant darkness. Immunoreactive indoles were found in both varieties of photoreceptor cells (P1 and P2): serotonin and N-acetylserotonin-like substances in P2 and a melatonin-like compound in P1. It is suggested that P1 and P2 are involved in indole metabolism.

Indoles in the photoreceptor cells of the lamprey pineal complex. In the pineal complex of the brook lamprey, the hydroxyindole-0-methyltransferase (involved in the biosynthesis of 5-methoxyindoles) displays a daily rhythm of activity with a nocturnal peak, during a light/dark cycle and in constant darkness. Immunoreactive indoles were found in both varieties of photoreceptor cells (P1 and P2): serotonin and N-acetylserotonin-like substances in P2 and a melatonin-like compound in P1. It is suggested that P1 and P2 are involved in indole metabolism.

pubmed23n0125_13894

Photoreceptors in the teleost pineal organ. Daily fluctuations of indole metabolism.

The present study in the pineal organ of the pike reports the existence of day/night variations in the levels of three indoles, and in the activity of two enzymes involved in their metabolism. Present and previous data indicate that the cone-like (P) and modified (MP) photoreceptors of the pineal organ translate the photoperiodic information into nervous and indolic (in P), or into indolic (in MP) signals, displaying circadian variations. It is questioned whether these cells which are functional units of the circadian system, contain a circadian oscillator.

Photoreceptors in the teleost pineal organ. Daily fluctuations of indole metabolism. The present study in the pineal organ of the pike reports the existence of day/night variations in the levels of three indoles, and in the activity of two enzymes involved in their metabolism. Present and previous data indicate that the cone-like (P) and modified (MP) photoreceptors of the pineal organ translate the photoperiodic information into nervous and indolic (in P), or into indolic (in MP) signals, displaying circadian variations. It is questioned whether these cells which are functional units of the circadian system, contain a circadian oscillator.

pubmed23n0125_13895

[Localization of transcription regulatory sequences. Application to the genes of the prolactin family].

We are studying nucleotide sequences responsible for the regulation of eukaryotic gene expression. Our test system comprises the human genes coding for prolactin (hPRL), growth hormone (hGH-N) and placental lactogen (hCS-B). We have cloned these genes and are searching within their sequences for in vitro binding sites of the human glucocorticoid receptor on the hGH-N and hCS-B genes; the in vivo activity of such DNA sequences by assaying hybrid gene expression in transfected cells; in vivo "enhancer" activity of different hPRL gene fragments linked to a marker gene and transfected in cultured cells.

[Localization of transcription regulatory sequences. Application to the genes of the prolactin family]. We are studying nucleotide sequences responsible for the regulation of eukaryotic gene expression. Our test system comprises the human genes coding for prolactin (hPRL), growth hormone (hGH-N) and placental lactogen (hCS-B). We have cloned these genes and are searching within their sequences for in vitro binding sites of the human glucocorticoid receptor on the hGH-N and hCS-B genes; the in vivo activity of such DNA sequences by assaying hybrid gene expression in transfected cells; in vivo "enhancer" activity of different hPRL gene fragments linked to a marker gene and transfected in cultured cells.

pubmed23n0125_13896

A recent survey of consanguineous marriages in Japan: religion and socioeconomic class effects.

A survey of consanguineous marriages in Japan was conducted on 1 September 1983 through questionnaires. The total number of couples studied was 9225, chosen from six widely different areas of Japan. Among six religious groups, the mean inbreeding coefficient (F) is the highest in Buddhists (0.0019), and lowest in 'no religion' (0.0008) and Catholics (0.0009). The F values for Buddhists and individuals with no religion decreased with marriage year in Fukue City and in the five other areas. In the latter group, the F value for Shintoists also decreased with marriage year. In the five areas, the F value is higher in Buddhists than in the 'no religion' group in each marriage year. Among educational groups, the F value was highest in graduates of junior high school for husbands (0.0025) and wives (0.0024), whereas the F value was lowest in graduates of a college, university or graduate course for husbands (0.0006) and wives (0.0005). Occupationally, the F value was the highest in agriculture, forestry and fishery for husbands (0.0035) and wives (0.0032), whereas the rate was the lowest among salesmen, for husbands (0.0006), and in professional occupations and researchers, for wives (0.0004). The causes of the declining F value are discussed.

A recent survey of consanguineous marriages in Japan: religion and socioeconomic class effects. A survey of consanguineous marriages in Japan was conducted on 1 September 1983 through questionnaires. The total number of couples studied was 9225, chosen from six widely different areas of Japan. Among six religious groups, the mean inbreeding coefficient (F) is the highest in Buddhists (0.0019), and lowest in 'no religion' (0.0008) and Catholics (0.0009). The F values for Buddhists and individuals with no religion decreased with marriage year in Fukue City and in the five other areas. In the latter group, the F value for Shintoists also decreased with marriage year. In the five areas, the F value is higher in Buddhists than in the 'no religion' group in each marriage year. Among educational groups, the F value was highest in graduates of junior high school for husbands (0.0025) and wives (0.0024), whereas the F value was lowest in graduates of a college, university or graduate course for husbands (0.0006) and wives (0.0005). Occupationally, the F value was the highest in agriculture, forestry and fishery for husbands (0.0035) and wives (0.0032), whereas the rate was the lowest among salesmen, for husbands (0.0006), and in professional occupations and researchers, for wives (0.0004). The causes of the declining F value are discussed.

pubmed23n0125_13897

Neuropeptide Y immunoreactivity is reduced in cerebral cortex in Alzheimer's disease.

Neuropeptide Y is a 36-amino acid peptide that is found in high concentrations in cerebral cortex and is contained in cortical neurons. We measured concentrations of this peptide in postmortem tissue from patients with Alzheimer's disease and controls using a sensitive and specific radioimmunoassay. High-performance liquid chromatography showed that more than 95% of immunoreactivity co-migrated with synthetic standards in both Alzheimer's disease and control frontal cortex. Significant reductions in neuropeptide Y-like immunoreactivity were found in eleven cortical regions, the hippocampus, and the locus ceruleus. The regions particularly affected included the temporal lobe, frontal lobe, and occipital cortex. As neuropeptide Y is co-localized with somatostatin in a considerable proportion of cortical neurons, the loss of immunoreactivity may in part reflect degeneration of these neurons. Further study of the selective vulnerability of these neurons in Alzheimer's disease cortex may provide clues to the nature of the underlying disease process.

Neuropeptide Y immunoreactivity is reduced in cerebral cortex in Alzheimer's disease. Neuropeptide Y is a 36-amino acid peptide that is found in high concentrations in cerebral cortex and is contained in cortical neurons. We measured concentrations of this peptide in postmortem tissue from patients with Alzheimer's disease and controls using a sensitive and specific radioimmunoassay. High-performance liquid chromatography showed that more than 95% of immunoreactivity co-migrated with synthetic standards in both Alzheimer's disease and control frontal cortex. Significant reductions in neuropeptide Y-like immunoreactivity were found in eleven cortical regions, the hippocampus, and the locus ceruleus. The regions particularly affected included the temporal lobe, frontal lobe, and occipital cortex. As neuropeptide Y is co-localized with somatostatin in a considerable proportion of cortical neurons, the loss of immunoreactivity may in part reflect degeneration of these neurons. Further study of the selective vulnerability of these neurons in Alzheimer's disease cortex may provide clues to the nature of the underlying disease process.

pubmed23n0125_13898

Skeletal maturity and body size of teenage Belgian track and field athletes.

Attained skeletal maturity (TW2 RUS method), skeletal maturity relative to chronological age, and body size of national-level Belgian track and field athletes 15 to 18 years of age were considered. Among the 47 male athletes, 29 (62%) were skeletally mature, while 15 (52%) of the 29 female athletes were skeletally mature. There appeared to be a predominance of skeletally mature individuals among male sprinters and jumpers, while a majority of female sprinters were not skeletally mature. Both skeletally mature and immature individuals were rather evenly represented in the other track and field categories, with the exception of female throwers, who were skeletally mature. Mean statures and weights of skeletally mature and immature 16-, 17-and 18-year-old male athletes did not differ significantly, though the skeletally mature tended to be heavier. In contrast, the skeletally mature female athletes, on the average, were taller and heavier than the skeletally immature, although the differences among the small groups were not statistically significant.

Skeletal maturity and body size of teenage Belgian track and field athletes. Attained skeletal maturity (TW2 RUS method), skeletal maturity relative to chronological age, and body size of national-level Belgian track and field athletes 15 to 18 years of age were considered. Among the 47 male athletes, 29 (62%) were skeletally mature, while 15 (52%) of the 29 female athletes were skeletally mature. There appeared to be a predominance of skeletally mature individuals among male sprinters and jumpers, while a majority of female sprinters were not skeletally mature. Both skeletally mature and immature individuals were rather evenly represented in the other track and field categories, with the exception of female throwers, who were skeletally mature. Mean statures and weights of skeletally mature and immature 16-, 17-and 18-year-old male athletes did not differ significantly, though the skeletally mature tended to be heavier. In contrast, the skeletally mature female athletes, on the average, were taller and heavier than the skeletally immature, although the differences among the small groups were not statistically significant.

pubmed23n0125_13899

A cline for glyoxalase I allele frequencies in Italy.

A gradient of glyoxalase I allele frequencies is described in Italian populations. The association between longitude and allele frequency is assessed through simple and multiple correlation, and gene flow is suggested as a major factor in the origin of such a pattern.

A cline for glyoxalase I allele frequencies in Italy. A gradient of glyoxalase I allele frequencies is described in Italian populations. The association between longitude and allele frequency is assessed through simple and multiple correlation, and gene flow is suggested as a major factor in the origin of such a pattern.

pubmed23n0125_13900

Local versus universal growth standards: the effect of using NCHS as universal reference.

Lack of local references has brought many fieldworkers to use the NCHS reference or other Western standards to assess the nutritional status of children in different developing countries. Cross-sectional data from 6631 children between 0 and 6 years of age, without signs of protein-energy malnutrition, were collected by the same observer in four different geographical areas in Africa and Asia. For each of the four geographical areas, local growth curves were drawn and compared with the NCHS reference. The local curves shows clear heterogeneity, and the values at different ages are not a constant proportion of the NCHS. These observations are in favour of using local standards in the nutritional screening of children in order to develop efficient and effective nutritional programmes.

Local versus universal growth standards: the effect of using NCHS as universal reference. Lack of local references has brought many fieldworkers to use the NCHS reference or other Western standards to assess the nutritional status of children in different developing countries. Cross-sectional data from 6631 children between 0 and 6 years of age, without signs of protein-energy malnutrition, were collected by the same observer in four different geographical areas in Africa and Asia. For each of the four geographical areas, local growth curves were drawn and compared with the NCHS reference. The local curves shows clear heterogeneity, and the values at different ages are not a constant proportion of the NCHS. These observations are in favour of using local standards in the nutritional screening of children in order to develop efficient and effective nutritional programmes.

pubmed23n0125_13901

Prognosis of dementia in normal-pressure hydrocephalus after a shunt operation.

Forty patients who had normal-pressure hydrocephalus were examined neuropsychologically before and 12 months after a ventriculoatrial shunt operation. Comparison of the preoperative and postoperative test results showed that cognitive functions improved in 16 patients, were unchanged in 19, and deteriorated in 5. Moreover, we found that the outcome of the operation depended on patient selection criteria. When three or more of the following preoperative signs were present (known cause, short history, low cerebrospinal fluid outflow, small sulci and/or periventricular hypodensity indicated by computed tomography), an improvement in cognitive function was seen in 80% of the patients after a shunt operation.

Prognosis of dementia in normal-pressure hydrocephalus after a shunt operation. Forty patients who had normal-pressure hydrocephalus were examined neuropsychologically before and 12 months after a ventriculoatrial shunt operation. Comparison of the preoperative and postoperative test results showed that cognitive functions improved in 16 patients, were unchanged in 19, and deteriorated in 5. Moreover, we found that the outcome of the operation depended on patient selection criteria. When three or more of the following preoperative signs were present (known cause, short history, low cerebrospinal fluid outflow, small sulci and/or periventricular hypodensity indicated by computed tomography), an improvement in cognitive function was seen in 80% of the patients after a shunt operation.

pubmed23n0125_13902

Contrapulsion of saccades and ipsilateral ataxia: a unilateral disorder of the rostral cerebellum.

Contralateral pulsion of saccades and ipsilateral limb ataxia were manifestations of unilateral damage to the rostral cerebellum studied in a patient with occlusion of one superior cerebellar artery. The saccadic disorder consisted of three elements: horizontal saccades away from the lesion during attempted vertical saccades, resulting in oblique trajectories; hypermetria of contralateral saccades; and hypometria of ipsilateral saccades. Magnetic search coil oculography showed that durations of the horizontal components of oblique contrapulsive saccades were lengthened toward the durations of the vertical components. Lengthening of horizontal vectors indicated temporal coupling of the orthogonal components, as occurs in normal oblique saccades. The bias of saccades arose proximal to brainstem loci that decompose commands for oblique saccades into their horizontal and vertical vectors. Contrapulsion of saccades may be explained by imbalanced cerebellar outflow.

Contrapulsion of saccades and ipsilateral ataxia: a unilateral disorder of the rostral cerebellum. Contralateral pulsion of saccades and ipsilateral limb ataxia were manifestations of unilateral damage to the rostral cerebellum studied in a patient with occlusion of one superior cerebellar artery. The saccadic disorder consisted of three elements: horizontal saccades away from the lesion during attempted vertical saccades, resulting in oblique trajectories; hypermetria of contralateral saccades; and hypometria of ipsilateral saccades. Magnetic search coil oculography showed that durations of the horizontal components of oblique contrapulsive saccades were lengthened toward the durations of the vertical components. Lengthening of horizontal vectors indicated temporal coupling of the orthogonal components, as occurs in normal oblique saccades. The bias of saccades arose proximal to brainstem loci that decompose commands for oblique saccades into their horizontal and vertical vectors. Contrapulsion of saccades may be explained by imbalanced cerebellar outflow.

pubmed23n0125_13903

Adolescent growth in weight and its relation to menarche in contemporary American girls.

Weight measurements at frequent intervals, from age six to adulthood, of 248 contemporary middle-class American girls were fitted to a mathematical model (Preece and Baines 1978). The results are used to examine weight and weight velocity at specified ages, the characteristics of the weight growth spurt and the relation of this spurt to menarche. These statistics are compared with previously complied height statistics for the same girls. Although the data of all 248 girls were readily fitted, no usable spurt take-off ages were found for 41 girls. Calculations, therefore, were made separately for two subsets: principal subset A (207) and variant subset B (41). The values (subset A) for weight at specified ages and at critical points of the adolescent growth spurt agree well with comparable US and Western European data. Comparing weight spurt (subset A) with height spurt, the weight spurt takes off earlier, peaks and ends later; adult weight is reached much later. The Preece-Baines model lacks a component for analysing the mid-growth spurt. Therefore, for some children, the model makes a too-early estimate of age at adolescent spurt take-off (and other dependent variables). This may account for the unrealistic take-off ages of girls in subset B, although these girls are also significantly younger and lighter than subset A girls at spurt peak and are also younger at menarche. While certain differences between the two subsets may be mathematical distortions caused by the Preece-Baines model, others may be real.

Adolescent growth in weight and its relation to menarche in contemporary American girls. Weight measurements at frequent intervals, from age six to adulthood, of 248 contemporary middle-class American girls were fitted to a mathematical model (Preece and Baines 1978). The results are used to examine weight and weight velocity at specified ages, the characteristics of the weight growth spurt and the relation of this spurt to menarche. These statistics are compared with previously complied height statistics for the same girls. Although the data of all 248 girls were readily fitted, no usable spurt take-off ages were found for 41 girls. Calculations, therefore, were made separately for two subsets: principal subset A (207) and variant subset B (41). The values (subset A) for weight at specified ages and at critical points of the adolescent growth spurt agree well with comparable US and Western European data. Comparing weight spurt (subset A) with height spurt, the weight spurt takes off earlier, peaks and ends later; adult weight is reached much later. The Preece-Baines model lacks a component for analysing the mid-growth spurt. Therefore, for some children, the model makes a too-early estimate of age at adolescent spurt take-off (and other dependent variables). This may account for the unrealistic take-off ages of girls in subset B, although these girls are also significantly younger and lighter than subset A girls at spurt peak and are also younger at menarche. While certain differences between the two subsets may be mathematical distortions caused by the Preece-Baines model, others may be real.

pubmed23n0125_13904

The incidence and prevalence of multiple sclerosis in Newfoundland and Labrador, 1960-1984.

A study of the incidence and prevalence of multiple sclerosis on the island of Newfoundland between 1960 and 1984 has yielded a current overall prevalence rate of 55.2 per 100,000, but wide variation is noted in the rates for different parts of the island (range, 15.9 to 105.0 per 100,000). The annual incidence rates for St. John's and the Avalon region of Newfoundland show cyclical variation on an approximate five- or six-year cycle. Suggestive evidence for a temporal link between varying incidence rates in these areas and recurrent local outbreaks of canine distemper was obtained.

The incidence and prevalence of multiple sclerosis in Newfoundland and Labrador, 1960-1984. A study of the incidence and prevalence of multiple sclerosis on the island of Newfoundland between 1960 and 1984 has yielded a current overall prevalence rate of 55.2 per 100,000, but wide variation is noted in the rates for different parts of the island (range, 15.9 to 105.0 per 100,000). The annual incidence rates for St. John's and the Avalon region of Newfoundland show cyclical variation on an approximate five- or six-year cycle. Suggestive evidence for a temporal link between varying incidence rates in these areas and recurrent local outbreaks of canine distemper was obtained.

pubmed23n0125_13905

Glial growth factor-like activity in Schwann cell tumors.

To determine whether glial growth factor (GGF)-like activity is associated with human Schwann cell tumors, we tested extracts from these tumors for their ability to stimulate the proliferation of rat Schwann cells in culture. Extracts from 3 of 3 bilateral acoustic neuromas and from 5 of 7 unilateral acoustic neuromas demonstrated dose-dependent stimulation similar to that of partially purified bovine pituitary GGF. One neurofibroma also contained high levels of GGF-like activity, one demonstrated an intermediate level, and three showed low or no activity. Minimal activity was found in one neurofibrosarcoma and in one trigeminal schwannoma. Non-Schwann cell tumors studied included 3 meningiomas, 2 pituitary adenomas, 1 cerebellar astrocytoma, 1 glioblastoma, 1 hemangioblastoma, and 2 metastatic brain tumors. The cerebellar hemangioblastoma demonstrated high GGF-like activity; the others showed little or no activity. Normal tissues used as control specimens included brain, peripheral nerve, muscle, and fat. Some activity was noted in one nerve biopsy; all others showed minimal or no GGF-like activity. High-performance liquid chromatography demonstrated that the GGF-like activity from two acoustic neuromas eluted in a single peak close to that of bovine pituitary GGF. We conclude that acoustic neuromas contain a factor that is closely related to bovine pituitary GGF and that this factor may have a role in the abnormal proliferation of Schwann cells in these tumors.

Glial growth factor-like activity in Schwann cell tumors. To determine whether glial growth factor (GGF)-like activity is associated with human Schwann cell tumors, we tested extracts from these tumors for their ability to stimulate the proliferation of rat Schwann cells in culture. Extracts from 3 of 3 bilateral acoustic neuromas and from 5 of 7 unilateral acoustic neuromas demonstrated dose-dependent stimulation similar to that of partially purified bovine pituitary GGF. One neurofibroma also contained high levels of GGF-like activity, one demonstrated an intermediate level, and three showed low or no activity. Minimal activity was found in one neurofibrosarcoma and in one trigeminal schwannoma. Non-Schwann cell tumors studied included 3 meningiomas, 2 pituitary adenomas, 1 cerebellar astrocytoma, 1 glioblastoma, 1 hemangioblastoma, and 2 metastatic brain tumors. The cerebellar hemangioblastoma demonstrated high GGF-like activity; the others showed little or no activity. Normal tissues used as control specimens included brain, peripheral nerve, muscle, and fat. Some activity was noted in one nerve biopsy; all others showed minimal or no GGF-like activity. High-performance liquid chromatography demonstrated that the GGF-like activity from two acoustic neuromas eluted in a single peak close to that of bovine pituitary GGF. We conclude that acoustic neuromas contain a factor that is closely related to bovine pituitary GGF and that this factor may have a role in the abnormal proliferation of Schwann cells in these tumors.

pubmed23n0125_13906

Growth and development of bodyweight, height and head circumference during the first two years of life: quantitative genetic aspects.

Mother-offspring and sib-sib relationships enable estimation of the heritability coefficients (or more accurately, transmissibility coefficients) and the so-called 'genetic correlation' for stature (S), weight (W) and head circumference (HC) in Israeli infants from birth to about two years of age. Heritability coefficients for S and HC show a more or less defined trend towards increase during ontogenetic development. The family resemblance in weight remains relatively constant or independent of age. The genetic correlations between each pair of the characters studied were higher than the corresponding phenotypic ones and showed an obvious tendency to decrease with age. The environmental correlations (rE) between W and S and between W and HC increase significantly with age, while for S and HC they are independent of age.

Growth and development of bodyweight, height and head circumference during the first two years of life: quantitative genetic aspects. Mother-offspring and sib-sib relationships enable estimation of the heritability coefficients (or more accurately, transmissibility coefficients) and the so-called 'genetic correlation' for stature (S), weight (W) and head circumference (HC) in Israeli infants from birth to about two years of age. Heritability coefficients for S and HC show a more or less defined trend towards increase during ontogenetic development. The family resemblance in weight remains relatively constant or independent of age. The genetic correlations between each pair of the characters studied were higher than the corresponding phenotypic ones and showed an obvious tendency to decrease with age. The environmental correlations (rE) between W and S and between W and HC increase significantly with age, while for S and HC they are independent of age.

pubmed23n0125_13907

Borderzone infarctions distal to internal carotid artery occlusion: prognostic implications.

Bilateral watershed (WS) infarction at the borderzone of the middle cerebral artery territory are typically related to severe hypotensive events. Unilateral WS infarctions have sometimes been reported in occlusion of the ipsilateral internal carotid artery (ICA), but their pathogenesis and prognostic implications are poorly known. Twenty-six of 154 (17%) consecutive patients with ICA occlusion had a computed tomography-proved ipsilateral WS infarct. Severe active heart disease with hypotension and syncope (p less than 0.0001), severe contralateral ICA disease (p less than 0.001), and elevated venous hematocrit values (p less than 0.001) related to heavy smoking were more frequent in the patients with WS infarction than in other patients. Delayed infarctions in the territory of the main branches of the middle cerebral artery distal to the ICA occlusion correlated with a visible stump or emboligenic changes (ulcerated or irregular stenosis) on the collateral channels, but this was not true for delayed WS infarctions. These findings suggest that most of the WS infarctions were hemodynamic. The patients with WS infarct had a higher death rate (9.9% per year) than did the patients without WS infarct (2.3% per year), suggesting that heart disease should be particularly closely managed in patients with WS infarctions. As WS infarctions were the most frequent type of infarction distal to an occluded ICA, appropriate treatment of all potential causes of systemic hemodynamic disturbances may be crucial in the long-term management of patients with ICA occlusion.

Borderzone infarctions distal to internal carotid artery occlusion: prognostic implications. Bilateral watershed (WS) infarction at the borderzone of the middle cerebral artery territory are typically related to severe hypotensive events. Unilateral WS infarctions have sometimes been reported in occlusion of the ipsilateral internal carotid artery (ICA), but their pathogenesis and prognostic implications are poorly known. Twenty-six of 154 (17%) consecutive patients with ICA occlusion had a computed tomography-proved ipsilateral WS infarct. Severe active heart disease with hypotension and syncope (p less than 0.0001), severe contralateral ICA disease (p less than 0.001), and elevated venous hematocrit values (p less than 0.001) related to heavy smoking were more frequent in the patients with WS infarction than in other patients. Delayed infarctions in the territory of the main branches of the middle cerebral artery distal to the ICA occlusion correlated with a visible stump or emboligenic changes (ulcerated or irregular stenosis) on the collateral channels, but this was not true for delayed WS infarctions. These findings suggest that most of the WS infarctions were hemodynamic. The patients with WS infarct had a higher death rate (9.9% per year) than did the patients without WS infarct (2.3% per year), suggesting that heart disease should be particularly closely managed in patients with WS infarctions. As WS infarctions were the most frequent type of infarction distal to an occluded ICA, appropriate treatment of all potential causes of systemic hemodynamic disturbances may be crucial in the long-term management of patients with ICA occlusion.

pubmed23n0125_13908

Electrographic status epilepticus in fatal anoxic coma.

Electrographic status epilepticus in the absence of conspicuous somatic motor manifestations is described in 10 patients who were comatose following anoxic-ischemic brain damage. The outcome was unfavorable and the response to anticonvulsant drugs was poor. We describe a clinical sign predictive of the electroencephalographic findings, namely brisk, small-amplitude, mainly vertical eye movements readily detectable by passively elevating the lids. However, similar eye movements may infrequently be found in patients whose electroencephalograms show abnormal spike discharges without the occurrence of electrographic status epilepticus following cerebral anoxia, as in 2 other patients we describe.

Electrographic status epilepticus in fatal anoxic coma. Electrographic status epilepticus in the absence of conspicuous somatic motor manifestations is described in 10 patients who were comatose following anoxic-ischemic brain damage. The outcome was unfavorable and the response to anticonvulsant drugs was poor. We describe a clinical sign predictive of the electroencephalographic findings, namely brisk, small-amplitude, mainly vertical eye movements readily detectable by passively elevating the lids. However, similar eye movements may infrequently be found in patients whose electroencephalograms show abnormal spike discharges without the occurrence of electrographic status epilepticus following cerebral anoxia, as in 2 other patients we describe.

pubmed23n0125_13909

Geographic distribution of consanguinity in Europe.

Average consanguinity (alpha) of 20 large regional or national samples derived from Roman Catholic Dispensations or state archives shows a strong negative relationship with latitude (r = -0.738; P less than 0.001) which seems best explained by cultural-historical factors. Isolates show no such pattern and are more variable in their inbreeding levels. Two-way analysis of variance shows the sample division by population size to be significant, the division by geography to be not significant, with no significant interaction between the two factors. In a one-way analysis of variance only the mainstream samples showed significant geographic differences (P less than 0.001). There is no such geographic association in Japan which has greater cultural and historical homogeneity. The clinical patterning in average consanguinity may bias frequency estimates of rare alleles, including genetic disorders.

Geographic distribution of consanguinity in Europe. Average consanguinity (alpha) of 20 large regional or national samples derived from Roman Catholic Dispensations or state archives shows a strong negative relationship with latitude (r = -0.738; P less than 0.001) which seems best explained by cultural-historical factors. Isolates show no such pattern and are more variable in their inbreeding levels. Two-way analysis of variance shows the sample division by population size to be significant, the division by geography to be not significant, with no significant interaction between the two factors. In a one-way analysis of variance only the mainstream samples showed significant geographic differences (P less than 0.001). There is no such geographic association in Japan which has greater cultural and historical homogeneity. The clinical patterning in average consanguinity may bias frequency estimates of rare alleles, including genetic disorders.

pubmed23n0125_13910

Mollaret's meningitis: a case with increased circulating natural killer cells.

A patient with longstanding Mollaret's meningitis had an increased number of circulating natural killer cells during an acute attack, as evidenced by 73% large granular lymphocytes and 80% Leu-11a-positive peripheral mononuclear cells. Numbers of large granular lymphocytes and Leu-11a-positive cells returned to normal by three months after the attack. Similarity of the morphological features of the Mollaret's cell to those of large granular lymphocytes is noted.

Mollaret's meningitis: a case with increased circulating natural killer cells. A patient with longstanding Mollaret's meningitis had an increased number of circulating natural killer cells during an acute attack, as evidenced by 73% large granular lymphocytes and 80% Leu-11a-positive peripheral mononuclear cells. Numbers of large granular lymphocytes and Leu-11a-positive cells returned to normal by three months after the attack. Similarity of the morphological features of the Mollaret's cell to those of large granular lymphocytes is noted.

pubmed23n0125_13911

Palmar dermatoglyphics of the Faroe Islanders.

The palmar dermatoglyphics of 298 male and 331 female Faroe Islanders were studied by the topological method of Penrose and Loesch. The frequency of individual pattern elements, triradii, main-line index and a-b ridge counts were recorded and compared with similar results for Danes and Cornish obtained from the analysis of unpublished data. The palmar traits of the three populations conform closely to the patterns of sex and bimanual variation reported in previous topological studies of Europeans. The Faroese have some distinctive dermatoglyphic features but the frequencies of their palm patterns are not as divergent from other North-West Europeans as their finger dermatoglyphic characters.

Palmar dermatoglyphics of the Faroe Islanders. The palmar dermatoglyphics of 298 male and 331 female Faroe Islanders were studied by the topological method of Penrose and Loesch. The frequency of individual pattern elements, triradii, main-line index and a-b ridge counts were recorded and compared with similar results for Danes and Cornish obtained from the analysis of unpublished data. The palmar traits of the three populations conform closely to the patterns of sex and bimanual variation reported in previous topological studies of Europeans. The Faroese have some distinctive dermatoglyphic features but the frequencies of their palm patterns are not as divergent from other North-West Europeans as their finger dermatoglyphic characters.

pubmed23n0125_13912

Bilateral lucency of the globus pallidus complicating methylmalonic acidemia.

A child was seen because of encephalopathy and metabolic ketoacidosis at 19 months. She was found to have a cobalamin-responsive form of methylmalonic acidemia of the cbl A complementation group. However, after treatment with cyanocobalamin and a protein-restricted diet, with recovery from the encephalopathy, she was found to have a tremor and bilateral dystonic posturing in association with lucencies in the globus pallidi shown by computed tomographic scan.

Bilateral lucency of the globus pallidus complicating methylmalonic acidemia. A child was seen because of encephalopathy and metabolic ketoacidosis at 19 months. She was found to have a cobalamin-responsive form of methylmalonic acidemia of the cbl A complementation group. However, after treatment with cyanocobalamin and a protein-restricted diet, with recovery from the encephalopathy, she was found to have a tremor and bilateral dystonic posturing in association with lucencies in the globus pallidi shown by computed tomographic scan.

pubmed23n0125_13913

Atypical presentation and neuropathological studies in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

A 6 1/2-month-old male offspring of consanguineous Egyptian parents was first seen because of fever, somnolence, vomiting, right focal motor seizures, right hemiparesis, elevated transaminase levels, hyperammonemia, and acidosis. A computed tomographic scan of the head suggested swelling of the left cerebral hemisphere, and an electroencephalogram indicated left frontotemporal abnormalities, but brain biopsy demonstrated diffuse white matter spongiosis and gliosis. Subsequently, urine organic acid analysis and enzyme assays were diagnostic of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.

Atypical presentation and neuropathological studies in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. A 6 1/2-month-old male offspring of consanguineous Egyptian parents was first seen because of fever, somnolence, vomiting, right focal motor seizures, right hemiparesis, elevated transaminase levels, hyperammonemia, and acidosis. A computed tomographic scan of the head suggested swelling of the left cerebral hemisphere, and an electroencephalogram indicated left frontotemporal abnormalities, but brain biopsy demonstrated diffuse white matter spongiosis and gliosis. Subsequently, urine organic acid analysis and enzyme assays were diagnostic of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.

pubmed23n0125_13914

[Effect of various forms of inorganic nitrogen on the biosynthesis of rifamycin B].

To study the influence of various forms of inorganic nitrogen on biosynthesis of rifamycin B, ammonium sulfate, ammonium nitrate, ammonium chloride and sodium nitrate were compared. It was shown possible to use mineral salts containing nitrogen in reduced or oxidized form as fermentation medium components. Sodium nitrate induced early alkalization of the fermentation broth, while ammonium nitrate and ammonium chloride induced its early oxidation. Moreover, the chlorine ions inhibited the antibiotic biosynthesis. All this impaired normal development of the culture. Only ammonium sulfate provided the pH levels of the fermentation broth normal for the antibiotic biosynthesis and the highest levels of the antibiotic production. The positive role of this salt was due to the presence of both the ammonium group and the sulfogroup in the fermentation medium, since addition of the sulfogroup contained in the sulfates or sulfuric acid resulted only in partial increase of the antibiotic yield.

[Effect of various forms of inorganic nitrogen on the biosynthesis of rifamycin B]. To study the influence of various forms of inorganic nitrogen on biosynthesis of rifamycin B, ammonium sulfate, ammonium nitrate, ammonium chloride and sodium nitrate were compared. It was shown possible to use mineral salts containing nitrogen in reduced or oxidized form as fermentation medium components. Sodium nitrate induced early alkalization of the fermentation broth, while ammonium nitrate and ammonium chloride induced its early oxidation. Moreover, the chlorine ions inhibited the antibiotic biosynthesis. All this impaired normal development of the culture. Only ammonium sulfate provided the pH levels of the fermentation broth normal for the antibiotic biosynthesis and the highest levels of the antibiotic production. The positive role of this salt was due to the presence of both the ammonium group and the sulfogroup in the fermentation medium, since addition of the sulfogroup contained in the sulfates or sulfuric acid resulted only in partial increase of the antibiotic yield.

pubmed23n0125_13915

[Oxidation-reduction status of the culture medium during the biosynthesis of amphotericin B].

The possibility of potentiometric estimation of the oxidation-reduction state of the fermentation broth during production of amphotericin B was studied. It was shown that the reduction capacity of the fermentation broth was high and did not change significantly during the antibiotic biosynthesis. It contained electrochemically active compounds in amounts providing stable potentials on the indicator electrodes. Both the platinum and the glass redoxmetric electrodes not sensitive to changes in the level of oxygen dissolved in the fermentation broth might be used for measuring the oxidation potential of the fermentation broth. Investigation of the dynamics of the oxidation potential changing revealed that during the process of amphotericin B biosynthesis the potential changed within wide ranges and every stage of the culture development was characterized by particular direction of the potential changing. This allowed, in combination with other parameters of the process, estimation of physiological activity of the culture at any moment of its growth.

[Oxidation-reduction status of the culture medium during the biosynthesis of amphotericin B]. The possibility of potentiometric estimation of the oxidation-reduction state of the fermentation broth during production of amphotericin B was studied. It was shown that the reduction capacity of the fermentation broth was high and did not change significantly during the antibiotic biosynthesis. It contained electrochemically active compounds in amounts providing stable potentials on the indicator electrodes. Both the platinum and the glass redoxmetric electrodes not sensitive to changes in the level of oxygen dissolved in the fermentation broth might be used for measuring the oxidation potential of the fermentation broth. Investigation of the dynamics of the oxidation potential changing revealed that during the process of amphotericin B biosynthesis the potential changed within wide ranges and every stage of the culture development was characterized by particular direction of the potential changing. This allowed, in combination with other parameters of the process, estimation of physiological activity of the culture at any moment of its growth.