ABSTRACT
Family history is one key in diagnosing inborn errors of immunity (IEI); however, disease status is difficult to determine in deceased relatives. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is one of the hyper IgM syndromes that is caused by a hypomorphic variant in the nuclear factor kappa beta essential modulator. We identified a novel IKBKG variant in a 7-month-old boy with pneumococcal rib osteomyelitis and later found that his mother has incontinentia pigmenti. Genetic analysis of preserved umbilical cords revealed the same variant in two of his deceased maternal uncles. Analysis of preserved umbilical cord tissue from deceased relatives can provide important information for diagnosing IEI in their descendants.
Subject(s)
Ectodermal Dysplasia/diagnosis , Genetic Diseases, X-Linked/diagnosis , I-kappa B Kinase/genetics , Osteomyelitis/diagnosis , Pneumococcal Infections/diagnosis , Primary Immunodeficiency Diseases/diagnosis , Umbilical Cord/pathology , DNA Mutational Analysis , Delayed Diagnosis , Ectodermal Dysplasia/complications , Ectodermal Dysplasia/genetics , Ectodermal Dysplasia/immunology , Genetic Diseases, X-Linked/complications , Genetic Diseases, X-Linked/genetics , Genetic Diseases, X-Linked/immunology , Humans , Infant , Male , Osteomyelitis/genetics , Osteomyelitis/immunology , Osteomyelitis/microbiology , Pedigree , Pneumococcal Infections/genetics , Pneumococcal Infections/immunology , Pneumococcal Infections/microbiology , Primary Immunodeficiency Diseases/complications , Primary Immunodeficiency Diseases/genetics , Primary Immunodeficiency Diseases/immunology , Streptococcus pneumoniae/immunology , Streptococcus pneumoniae/isolation & purificationABSTRACT
OBJECTIVES: The aim of this study is to assess preserved umbilical cords as chemical exposure media to investigatein utero chemical exposure. Furthermore, we aim to apply preserved umbilical cords to retrospective studies of the relationship betweenin utero chemical exposure and neurodevelopment disorders. METHODS: Two sets of preserved umbilical cord samples were analyzed for exposure to polychlorinated biphenyls (PCBs): one composed of samples from 20 healthy Japanese subjects and the other set included samples from 17 autistic patients and 7 healthy sibling of theirs. RESULTS: The possibility of external PCBs contamination during storage of preserved umbilical cord samples was found, and due to this problem, the study design should be limited to the comparison between PCBs concentration in preserved cord samples from autistic patients and that in those from their sibling. Total PCBs concentrations in preserved cords from autistic patients and their control siblings were compared and we found no statistically significant difference between them (Wilcoxon signed rank test, p>0.05). CONCLUSIONS: The association between autism andin utero PCBs exposure was not clarified in this study; however, retrospective studies such as a case-control study of siblings using preserved umbilical cords can be a method of choice for examining the possible relationship betweenin utero chemical exposure and child hood disorders.
ABSTRACT
<p><b>OBJECTIVES</b>The aim of this study is to assess preserved umbilical cords as chemical exposure media to investigatein utero chemical exposure. Furthermore, we aim to apply preserved umbilical cords to retrospective studies of the relationship betweenin utero chemical exposure and neurodevelopment disorders.</p><p><b>METHODS</b>Two sets of preserved umbilical cord samples were analyzed for exposure to polychlorinated biphenyls (PCBs): one composed of samples from 20 healthy Japanese subjects and the other set included samples from 17 autistic patients and 7 healthy sibling of theirs.</p><p><b>RESULTS</b>The possibility of external PCBs contamination during storage of preserved umbilical cord samples was found, and due to this problem, the study design should be limited to the comparison between PCBs concentration in preserved cord samples from autistic patients and that in those from their sibling. Total PCBs concentrations in preserved cords from autistic patients and their control siblings were compared and we found no statistically significant difference between them (Wilcoxon signed rank test, p>0.05).</p><p><b>CONCLUSIONS</b>The association between autism andin utero PCBs exposure was not clarified in this study; however, retrospective studies such as a case-control study of siblings using preserved umbilical cords can be a method of choice for examining the possible relationship betweenin utero chemical exposure and child hood disorders.</p>
ABSTRACT
Objectives: The aim of this study is to assess preserved umbilical cords as chemical exposure media to investigate in utero chemical exposure. Furthermore, we aim to apply preserved umbilical cords to retrospective studies of the relationship between in utero chemical exposure and neurodevelopment disorders. Methods: Two sets of preserved umbilical cord samples were analyzed for exposure to polychlorinated biphenyls (PCBs): one composed of samples from 20 healthy Japanese subjects and the other set included samples from 17 autistic patients and 7 healthy siblings of theirs. Results: The possibility of external PCBs contamination during storage of preserved umbilical cord samples was found, and due to this problem, the study design should be limited to the comparison between PCBs concentration in preserved cord samples from autistic patients and that in those from their sibling. Total PCBs concentrations in preserved cords from autistic patients and their control siblings were compared and we found no statistically significant difference between them (Wilcoxon signed rank test, p>0.05). Conclusions: The association between autism and in utero PCBs exposure was not clarified in this study; however, retrospective studies such as a case-control study of siblings using preserved umbilical cords can be a method of choice for examining the possible relationship between in utero chemical exposure and childhood disorders.
