ABSTRACT
Objective:To investigate the clinical phenotype and gene mutation in a child with developmental disorders caused by CTNNB1 gene mutation. Methods:Clinical data of a child with CTNNB1 gene mutation who was admitted to Xiamen Hospital of Fudan University Affiliated Pediatric Hospital in May 2017 were collected, whole exome sequencing technology was applied to verify the family lineage of the child, and the pathogenicity of mutation site was analyzed. Results:The patient was a 6 years and 1 month old male, with a clinical phenotype including mental retardation, motor developmental disorders, speech disorders, visual disorders (internal strabismus), microcephaly, and behavioral problems (social withdrawal, overdependence, etc.), as well as panic syndrome (i.e., sudden shrieking in response to auditory and visual stimuli, extensional rigidity of the body, etc., followed by short periods of general extensional rigidity). The whole exome sequencing results showed the presence of a de novo mutation c.283(exon4)C>T in the CTNNB1 gene, and the c.283(exon4)C>T mutation was interpreted as pathogenic (PVS1+PS2+PS1+PM2+PM) according to the American College of Medical Genetics and Genomics variant classification criteria and guidelines. No relevant genetic variants were found in the parental family verification. Conclusion:CTNNB1 gene mutation c.283(exon4)C>T can cause neurodevelopmental disorders, including mental retardation, motor developmental disorders, speech disorders, visual disorders, microcephaly and behavioral abnormalities.
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Objective To evaluate immune function of patients with multiple myeloma ( MM) by detect the changes of the Treg cells in bone marrow of patients with MM .Methods Treg cells in peripheral blood and bone marrow of 45 patients with MM and 15 healthy controls were measured by flow cytometry .Results The per-centage of Treg cells in peripheral blood of MM was higher than that in healthy person ;The percentage of Treg cells in MM bone marrow was lower than that in healthy person ,and the extent was positively correlated with the level of β2-MG and ISS(P<0.05).Conclusion MM Patients display an abnormal level of CD 4 +CD25 +Treg cells,which may be an important mechanism of MM immune deficiency .
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OBJECTIVE To understand the clinical effect of microeclogical modulator Bifid Triple Viable(BTV) in preventing neonatal antibiotic associated diarrhea(AAD).METHODS A prospective controlled study was undertaken on the antibiotic treated group and control group from Jan,2004 to Dec 2007.RESULTS Among the 996 neonatal patients in treated group,71 patients occurred AAD,with the morbidity of 7.13%.Among the 1012 neonatal patients in control group,235 patients occurred AAD(morbidity 23.22%).There was significant difference between the two groups(P