Effects of SCA1, MJD, and DPRLA triplet repeat polymorphisms on cognitive phenotypes in a normal population of adolescent twins

Abstract. In recent years, both professional and volunteer clowns have become familiar in health settings. The clown represents a peculiar humorist’s character, strictly associated with the performer’s own personality. In this study, the Big Five personality traits (BFI) of 155 Italian clown doctors (130 volunteers and 25 professionals) were compared to published data for the normal population. This study highlighted specific differences between clown doctors and the general population: Clown doctors showed higher agreeableness, conscientiousness, openness, and extraversion, as well as lower neuroticism compared to other people. Moreover, specific differences emerged comparing volunteers and professionals: Professional clowns showed significantly lower in agreeableness compared to their unpaid colleagues. The results are also discussed with reference to previous studies conducted on groups of humorists. Clowns’ personalities showed some peculiarities that can help to explain the facility for their performances in the health setting and that are different than those of other groups of humorists.

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Sexualhormone und Alkoholabhängigkeit: Triplet-Repeat im Bereich des Androgenrezeptors beeinflusst Craving im Alkoholentzug

Suchttherapie ◽

10.1055/s-0029-1240275 ◽

2009 ◽

Vol 10 (S 01) ◽

Author(s):

B Lenz ◽

H Frieling ◽

T Hillemacher ◽

MAN Muschler ◽

J Kornhuber ◽

...

Keyword(s):

Triplet Repeat

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High Prevalence of Factor V R506Q Mutation in German Thrombophilic and Normal Population

Thrombosis and Haemostasis ◽

10.1055/s-0037-1614966 ◽

1998 ◽

Vol 79 (03) ◽

pp. 684-685 ◽

Cited By ~ 6

Author(s):

Birga Zwinge ◽

Inge Scharrer ◽

Silke Ehrenforth

Keyword(s):

Normal Population ◽

Factor V ◽

High Prevalence

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Application of Two Neutral Mspl DNA Polymorphisms in the Analysis of Hereditary Protein C Deficiency

Thrombosis and Haemostasis ◽

10.1055/s-0038-1647293 ◽

1990 ◽

Vol 64 (02) ◽

pp. 239-244 ◽

Cited By ~ 8

Author(s):

P H Reitsma ◽

W te Lintel Hekkert ◽

E Koenhen ◽

P A van der Velden ◽

C F Allaart ◽

...

Keyword(s):

Protein C ◽

Stop Codon ◽

Normal Population ◽

Amino Acid Position ◽

Rare Allele ◽

Dna Polymorphisms ◽

Type I ◽

Protein C Deficiency ◽

Gene Deletions ◽

Allelic Frequencies

SummaryScreening of restriction erzyme digested DNA from normal and protein C deficient individuals with a variety of probes derived from the protein C locus has revealed the existence of two neutral MspI polymorphism. One polymorphism (MI), which is located ≈7 kb upstream of the protein C gene, has allelic frequencies of 69 and 31%, and was used to exclude extensive gene deletions as a likely cause of type I protein C deficiency in 50% of cases in a panel of 22 families. Furtherrnore, the same polymorphism has been used in 5 doubly affected individuals establishing compound heterozygosity in 3 of these.The second, intragenic, polymorphism (MII) has allelic frequencies of 99 and 1% in the normal population. The frequency of the rare allele of this RFLP was with 7% much higher in a panel of 22 Dutch families with protein C deficiency. Interestingly, in all three probands that were heterozygous for MII the rare allele of MII coincided with a point mutation that leads to a stop codon in amino acid position 306 of the protein C coding sequence. This mutation may account for 14% of the protein C deficient individuals in The Netherlands.

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Factor V Leiden: An Additional Risk Factor for Thrombosis in Protein S Deficient Families?

Thrombosis and Haemostasis ◽

10.1055/s-0038-1649778 ◽

1995 ◽

Vol 74 (02) ◽

pp. 580-583 ◽

Cited By ~ 96

Author(s):

B P C Koeleman ◽

D van Rumpt ◽

K Hamulyák ◽

P H Reitsma ◽

R M Bertina

Keyword(s):

Protein C ◽

Normal Population ◽

Factor V Leiden ◽

Protein S ◽

Reliable Estimate ◽

Additional Risk Factor ◽

Protein S Deficiency ◽

S Deficiency ◽

High Prevalence ◽

Fv Leiden

SummaryWe recently reported a high prevalence of the FV Leiden mutation (R506Q, responsible for Activated Protein C resistance) among symptomatic protein C deficient probands (19%), and the involvement of the FV Leiden mutation in the expression of thrombophilia in six protein C deficient families. Here, we report the results of a similar study in protein S deficient probands and families. Among 16 symptomatic protein S deficient probands the prevalence of the FV Leiden mutation was high (38%). This high prevalence is significantly different from that in the normal population, and is probably caused by the selection of probands for familial thrombosis and protein S deficiency. In 4 families, the segregation of the FV Leiden mutation and the protein S deficiency could be studied. In sibships where both abnormalities were segregating, the percentage of symptomatic individuals with both abnormalities was 80%. Three of the seven subjects with only the FV Leiden mutation, and two out of the three subjects with only protein S deficiency had developed thrombosis. These results indicate that in the families presented here the combination of the FV Leiden mutation and the protein S deficiency is associated with a high risk for thrombosis. A reliable estimate of the penetrance of the single defects is not possible, because the number of individuals with a single defect is too low.

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Detection of Circulating Tissue Factor and Factor VII in a Normal Population

Thrombosis and Haemostasis ◽

10.1055/s-0038-1650365 ◽

1996 ◽

Vol 75 (05) ◽

pp. 772-777 ◽

Cited By ~ 30

Author(s):

Sybille Albrecht ◽

Matthias Kotzsch ◽

Gabriele Siegert ◽

Thomas Luther ◽

Heinz Großmann ◽

...

Keyword(s):

Tissue Factor ◽

Normal Population ◽

Mean Value ◽

Factor Vii ◽

Significant Difference ◽

Age Dependent ◽

The Mean ◽

Highly Correlated ◽

And Gender

SummaryThe plasma tissue factor (TF) concentration was correlated to factor VII concentration (FVIIag) and factor VII activity (FVIIc) in 498 healthy volunteers ranging in age from 17 to 64 years. Immunoassays using monoclonal antibodies (mAbs) were developed for the determination of TF and FVIIag in plasma. The mAbs and the test systems were characterized. The mean value of the TF concentration was 172 ± 135 pg/ml. TF showed no age- and gender-related differences. For the total population, FVIIc, determined by a clotting test, was 110 ± 15% and the factor VIlag was 0.77 ± 0.19 μg/ml. FVII activity was significantly increased with age, whereas the concentration demonstrated no correlation to age in this population. FVII concentration is highly correlated with the activity as measured by clotting assay using rabbit thromboplastin. The ratio between FVIIc and FVIIag was not age-dependent, but demonstrated a significant difference between men and women. Between TF and FVII we could not detect a correlation.

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F.VIII R:Ag in Hepatitis

10.1055/s-0038-1665838 ◽

1979 ◽

Author(s):

R. Kotitschke ◽

J. Scharrer

Keyword(s):

Chronic Hepatitis ◽

Blood Donors ◽

Blood Donation ◽

Normal Population ◽

Rabbit Antiserum ◽

Two Dimensional ◽

Plastic Plate ◽

Significant Difference ◽

Acute Hepatitis B ◽

The One

F.VIII R:Ag was determined by quantitative immunelectrophoresis (I.E.) with a prefabricated system. The prefabricated system consists of a monospecific f.VIII rabbit antiserum in agarose on a plastic plate for the one and two dimensional immunelectrophoresis. The lognormal distribution of the f.VIII R:Ag concentration in the normal population was confirmed (for n=70 the f.VIII R:Ag in % of normal is = 95.4 ± 31.9). Among the normal population there was no significant difference between blood donors (one blood donation in 8 weeks; for n=43 the f.VIII R:Ag in % of normal is = 95.9 ± 34.0) and non blood donors (n=27;f.VIII R:Ag = 94.6 ± 28.4 %). The f.VIII R:Ag concentration in acute hepatitis B ranged from normal to raised values (for n=10, a factor of 1.8 times of normal was found) and was normal again after health recovery (n=10, the factor was 1.0). in chronic hepatitis the f.VIII R:Ag concentration was raised in the majority of the cases (for n=10, the factor was 3.8). Out of 22 carrier sera 20 showed reduced, 2 elevated levels of the f.VIII R:Ag concentration. in 5 sera no f.VIII R:Ag could be demonstrated. The f.VIII R:Ag concentration was normal for n=10, reduced for n=20 and elevated for n=6 in non A-non B hepatitis (n=36). Contrary to results found in the literature no difference in the electrophoretic mobility of the f.VIII R:Ag was found between hepatitis patients sera and normal sera.

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Long-term quality of life and work status after high-dose spinal cord stimulation in patients with failed back surgery syndrome: a secondary analysis of real-world data

Journal of Neurosurgery Spine ◽

10.3171/2020.7.spine20764 ◽

2020 ◽

pp. 1-9

Author(s):

Lisa Goudman ◽

Ann De Smedt ◽

Koen Putman ◽

Maarten Moens ◽

_ _

Keyword(s):

Normal Population ◽

Failed Back Surgery Syndrome ◽

Work Status ◽

High Dose ◽

Difference Scores ◽

Failed Back Surgery ◽

Back Surgery ◽

Vas Scores ◽

Utility Scores

OBJECTIVEIn recent years, the use of high-dose spinal cord stimulation (HD-SCS) as a treatment option for patients with failed back surgery syndrome (FBSS) has drastically increased. However, to the authors’ knowledge a thorough evaluation of health-related quality of life (HRQOL) and work status in these patients has not yet been performed. Moreover, it is unclear whether patients who are treated with HD-SCS can regain the same levels of HRQOL as the general population. Therefore, the aims of this study were to compare the HRQOL of patients who receive HD-SCS to HRQOL values in an age- and sex-adjusted population without FBSS and to evaluate work status in patients who are receiving HD-SCS.METHODSHRQOL, measured with the 3-level EQ-5D (EQ-5D-3L), and work status were evaluated in 185 FBSS patients at baseline (i.e., before SCS) and at 1, 3, and 12 months of treatment with HD-SCS. Difference scores in utility values between patients and an age- and sex-adjusted normal population were calculated. One-sample Wilcoxon tests were used to assess the EQ-5D-3L difference scores. Mixed models were used to evaluate the evolution over time in EQ-5D-3L utility scores and EQ-5D visual analog scale (VAS) scores in patients and matched controls. Quality-adjusted life-years (QALYs) were calculated using the area under the curve method.RESULTSAn overall significant increase in EQ-5D-3L utility scores and EQ-5D VAS scores was found over time in the patient group. Wilcoxon tests indicated that the difference scores in utility values between patients and the normal population were significantly different from zero at all time points. The median incremental QALY after 12 months of HD-SCS was 0.228 (Q1–Q3: 0.005–0.487) in comparison to continued conservative treatment. At 12 months, 13.75% of patients resumed work.CONCLUSIONSHD-SCS may lead to significantly increased HRQOL at 12 months in patients with FBSS. Despite the increase, reaching the HRQOL level of matched controls was not achieved. Only a limited number of patients were able to return to work. This finding indicates that specialized programs to enhance return to work may be beneficial for patients undergoing SCS.

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