The Experts below are selected from a list of 138 Experts worldwide ranked by ideXlab platform

G. P. J. M. Gerrits - One of the best experts on this subject based on the ideXlab platform.

  • A previously healthy 11-year-old girl with behavioural disturbances, desquamation of the skin and loss of teeth
    European Journal of Pediatrics, 2009
    Co-Authors: A. A. A. Linde, C. A. W. Lewiszong-rutjens, A. Verrips, G. P. J. M. Gerrits
    Abstract:

    An 11-year-old girl was admitted with backpain, weight loss, fatigue and behavioural disturbances, starting seven weeks before admission. Physical examination showed Acrodynia, tremor, cachexia, hypertension and extensive gingival ulceration. Routine laboratory tests were normal, except for a CRP of 98 mg/l. Screening tests for recreational drugs as well as antibody assays for HIV, hepatitis B and borrelia burgdorferia were negative. Chest X-ray, brain CAT and MRI scan were all normal. Lumbar puncture didn’t show any abnormalities. Eventually a 24-hour urine test confirmed the diagnosis that was suspected by further questioning.

David W. Austin - One of the best experts on this subject based on the ideXlab platform.

  • Genetic variation associated with hypersensitivity to mercury
    Toxicology international, 2014
    Co-Authors: David W. Austin, Kerrie Shandley, Briana Spolding, Shakuntla V. Gondalia, Enzo A. Palombo, Simon R. Knowles, Ken Walder
    Abstract:

    Objectives: Very little is known about mechanisms of idiosyncratic sensitivity to the damaging effects of mercury (Hg); however, there is likely a genetic component. The aim of the present study was to search for genetic variation in genes thought to be involved in Hg metabolism and transport in a group of individuals identified as having elevated Hg sensitivity compared to a normal control group. Materials and Methods: Survivors of pink disease (PD; infantile Acrodynia) are a population of clinically identifiable individuals who are Hg sensitive. In the present study, single nucleotide polymorphisms in genes thought to be involved in Hg transport and metabolism were compared across two groups: (i) PD survivors ( n = 25); and (ii) age- and sex-matched healthy controls ( n = 25). Results: Analyses revealed significant differences between groups in genotype frequencies for rs662 in the gene encoding paraoxanase 1 (PON1) and rs1801131 in the gene encoding methylenetetrahydrofolate reductase (MTHFR). Conclusions: We have identified two genetic polymorphisms associated with increased sensitivity to Hg. Genetic variation in MTHFR and PON1 significantly differentiated a group formerly diagnosed with PD (a condition of Hg hypersensitivity) with age- and gender-matched healthy controls.

  • ANCESTRY OF PINK DISEASE (INFANTILE Acrodynia) IDENTIFIED AS A RISK FACTOR FOR AUTISM SPECTRUM DISORDERS
    2013
    Co-Authors: David W. Austin
    Abstract:

    Pink disease (infantile Acrodynia) was especially prevalent in the first half of the 20th century. Primarily attributed to exposure to mercury (Hg) commonly found in teething powders, the condition was developed by approximately 1 in 500 exposed children. The differential risk factor was identified as an idiosyncratic sensitivity to Hg. Autism spectrum disorders (ASD) have also been postulated to be produced by Hg. Analogous to the pink disease experience, Hg exposure is widespread yet only a fraction of exposed children develop an ASD, suggesting sensitivity to Hg may also be present in children with an ASD. The objective of this study was to test the hypothesis that individuals with a known hypersensitivity to Hg (pink disease survivors) may be more likely to have descendants with an ASD. Five hundred and twenty-two participants who had previously been diagnosed with pink disease completed a survey on the health outcomes of their descendants. The prevalence rates of ASD and a variety of other clinical conditions diagnosed in childhood (attention deficit hyperactivity disorder, epilepsy, Fragile X syndrome, and Down syndrome) were compared to well-established general population prevalence rates. The results showed the prevalence rate of ASD among the grandchildren of pink disease survivors (1 in 25) to be significantly higher than the comparabl

  • Ancestry of Pink Disease (Infantile Acrodynia) Identified as a Risk Factor for Autism Spectrum Disorders
    Journal of toxicology and environmental health. Part A, 2011
    Co-Authors: Kerrie Shandley, David W. Austin
    Abstract:

    Pink disease (infantile Acrodynia) was especially prevalent in the first half of the 20th century. Primarily attributed to exposure to mercury (Hg) commonly found in teething powders, the condition was developed by approximately 1 in 500 exposed children. The differential risk factor was identified as an idiosyncratic sensitivity to Hg. Autism spectrum disorders (ASD) have also been postulated to be produced by Hg. Analogous to the pink disease experience, Hg exposure is widespread yet only a fraction of exposed children develop an ASD, suggesting sensitivity to Hg may also be present in children with an ASD. The objective of this study was to test the hypothesis that individuals with a known hypersensitivity to Hg (pink disease survivors) may be more likely to have descendants with an ASD. Five hundred and twenty-two participants who had previously been diagnosed with pink disease completed a survey on the health outcomes of their descendants. The prevalence rates of ASD and a variety of other clinical conditions diagnosed in childhood (attention deficit hyperactivity disorder, epilepsy, Fragile X syndrome, and Down syndrome) were compared to well-established general population prevalence rates. The results showed the prevalence rate of ASD among the grandchildren of pink disease survivors (1 in 25) to be significantly higher than the comparable general population prevalence rate (1 in 160). The results support the hypothesis that Hg sensitivity may be a heritable/genetic risk factor for ASD.

A. A. A. Linde - One of the best experts on this subject based on the ideXlab platform.

  • A previously healthy 11-year-old girl with behavioural disturbances, desquamation of the skin and loss of teeth
    European Journal of Pediatrics, 2009
    Co-Authors: A. A. A. Linde, C. A. W. Lewiszong-rutjens, A. Verrips, G. P. J. M. Gerrits
    Abstract:

    An 11-year-old girl was admitted with backpain, weight loss, fatigue and behavioural disturbances, starting seven weeks before admission. Physical examination showed Acrodynia, tremor, cachexia, hypertension and extensive gingival ulceration. Routine laboratory tests were normal, except for a CRP of 98 mg/l. Screening tests for recreational drugs as well as antibody assays for HIV, hepatitis B and borrelia burgdorferia were negative. Chest X-ray, brain CAT and MRI scan were all normal. Lumbar puncture didn’t show any abnormalities. Eventually a 24-hour urine test confirmed the diagnosis that was suspected by further questioning.

Irwin H. Rosenberg - One of the best experts on this subject based on the ideXlab platform.

  • A history of the isolation and identification of vitamin B(6).
    Annals of nutrition & metabolism, 2012
    Co-Authors: Irwin H. Rosenberg
    Abstract:

    In the 1930s, Rudolf Peters showed that young rats kept on a semi-synthetic diet with added thiamin and riboflavin but no other supplement developed 'rat Acrodynia', a condition characterized by severe cutaneous lesions. In 1934, Paul Gyorgy showed that the factor which cured 'rat Acrodynia' was vitamin B(6). Other studies soon showed that vitamin B(6) deficiency produced convulsions in rats, pigs, and dogs, and a microcytic anemia in certain animals. Samuel Lepkovsky isolated and crystallized vitamin B(6) in 1938. The following year, Leslie Harris and Karl Folkers, and Richard Kuhn and his associates independently showed that vitamin B(6) was a pyridine derivative, 3-hydroxy-4,5-dihydroxy-methyl-2-methyl-pyridine. Gyorgy proposed the term pyridoxine for this derivative. Esmond Snell developed a microbiological growth assay in 1942 that led to the characterization of pyridoxamine, the animated product of pyridoxine, and pyridoxal, the formyl derivative of pyridoxine. Further studies showed that pyridoxal, pyridoxamine, and pyridoxine have largely equal activity in animals and owe their vitamin activity to the ability of the organism to convert them into the enzymatically active form pyridoxal-5-phosphate. Pyridoxal-5-phosphate plays a role in a wide variety of enzyme systems, especially in the metabolic utilization and transformation of amino acids.

A. Verrips - One of the best experts on this subject based on the ideXlab platform.

  • A previously healthy 11-year-old girl with behavioural disturbances, desquamation of the skin and loss of teeth
    European Journal of Pediatrics, 2009
    Co-Authors: A. A. A. Linde, C. A. W. Lewiszong-rutjens, A. Verrips, G. P. J. M. Gerrits
    Abstract:

    An 11-year-old girl was admitted with backpain, weight loss, fatigue and behavioural disturbances, starting seven weeks before admission. Physical examination showed Acrodynia, tremor, cachexia, hypertension and extensive gingival ulceration. Routine laboratory tests were normal, except for a CRP of 98 mg/l. Screening tests for recreational drugs as well as antibody assays for HIV, hepatitis B and borrelia burgdorferia were negative. Chest X-ray, brain CAT and MRI scan were all normal. Lumbar puncture didn’t show any abnormalities. Eventually a 24-hour urine test confirmed the diagnosis that was suspected by further questioning.