• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.14 no.1
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• pp.123-127
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• 2003

Cornelia de Lange syndrome is a dysmorphogenic disorder characterized by multiple congenital abnormalities, mental retardation, growth retardation and neurodevelopmental abnormalities. Diagnosis for the Cornelia de Lange syndrome is dependent on the clinical observation because neither definite biological marker nor definite chromosomal abnormality have been investigated. Clinical observation is important for the diagnosis, so we report a case of Corenelia de Lange syndrome with mental retardation and autistic disorder. The patient is a 6-year old girl. Her motor development and language development have been delayed. She could say no meaningful word and understood simple command partially. She showed poor eye contact and poor emotional interaction. Social interaction was impaired and she Showed stereotypic behaviors. Thus we diagnosed her as mental retardation with autistic disorder. She had vesicoureteral reflux, frequent upper respiratory infection and pneumonia. She had experienced febrile convulsions 4 times. She had short stature, confluent eyebrows, long eyelashes, and upturned nose with anteverted nostrils. She also showed low hairline and hypertrichosis in body and extremities. Her finger was short. In this case, we diagnosed Cornelia de Lange syndrome by her characteristic face, hypertrichosis and medical and behavioral problems that were frequently showed in this syndrome.

• Journal of Naturopathy
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• v.7 no.2
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• pp.63-69
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• 2018

Purpose: The purpose of this study was to investigate the effects of Bacillus fermentation broth (ENM) on the human NK cell activity, and bone matrix density, matrix content and area of hamsters fed ENM. Methods: NK cell activity was tested, and bone mineral density were measured by x-ray. Results: NK cell activity was significantly higher in the control group (644.71 pg/ml) and in the test group (1796.37 pg/ml) (p<.004). Test groups were significantly increased by 1110.37 pg/ml in the pre-test and 1796.37 pg/ml in the post-test(p<.001). Behavioral observations after feeding ENM to hamsters showed normal behavior with no difference between control and test groups. The hamster body weight of the control was 106 g at the initial and final 27 days. In the test group, the initial weight was 96.6 g and the final 27 days was 114 g. No morphological changes were observed in the X-ray photographs of the hamster hind legs. The bone matrix density was 0.059 g/cm³ in control and 0.062 g/cm³ in the test, which was increased by 0.003 g/cm³. The bone matrix content was 0.175 g in the control and 0.196 g in the test. The bone area was 2.95 cm² in the control and 3.19 cm² in the test, which was increased by 0.19 cm². In the autopsy, neither the control nor the test group showed any remarkable abnormality, and each organ was normal. Conclusions: It is thought that ingestion of ENM is useful for immunity enhancement.