1.Clinical and laboratory features and gene diagnosis of Menkes disease
Chinese Journal of Applied Clinical Pediatrics 2016;31(10):787-791
Objective To explore the clinical and laboratory features,and gene diagnosis method of Menkes disease (MD).Methods The clinical and laboratory features and gene diagnosis method of 2 infants with MD were reviewed.Results (1) Clinical features:both infants mentioned in this article were male.Their clinical manifestations were both began at 3-4 months age,including peculiar kinky hair,pale skin,pudgy cheeks,inguinal hernia,vessel abnormality,epilepsy and mental retardation.(2) Laboratory features:the ceruloplasmin concentrations significantly reduced to be ＜ 20 mg/L and 47 mg/L,respectively.The magnetic resonance angiogram images of case 1 showed the abnormal tortuosity of his intracranial vessels.The magnetic resonance images of case 2 showed a rapid progress from normal to severe brain atrophy within half a year.(3) Gene diagnosis:the sequencing of ATP7A gene in case 1 showed a nonsense mutation of c.2110 C ＞ T.The pathogenicity of this mutation had not been reported previously at home and abroad.The sequencing of the gene panel without pathogenic mutation was detected in case 2.But the multiplex ligation-dependent probe amplification test showed a gross deletion of ATP7A gene containing 8-12 exons.This mutation had been documented as a pathogenic mutation of MD.Both mothers of 2 patients were heterozygous mutation carriers of normal phenotype.Conclusions MD is a multisystemic disease caused by ATP7A gene mutation resulting in copper metabolism disorder.MD is inherited as an X-linked recessive trait.MD is characterized by kinky hair,connective tissue abnormalities and progressive neurodegeneration.Clinical diagnosis can be made on the basis of clinical features,findings of blood biochemical examination,and radiological findings.Gene sequencing and multiplex ligation dependent probe amplification test are the main technique widely used for genetic diagnosis.
2.Use of serum transferrin receptor detection in diagnosis of iron deficiency anemia in children.
Chinese Journal of Pediatrics 2004;42(5):388-389
Anemia, Iron-Deficiency
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blood
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diagnosis
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Biomarkers
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blood
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Child
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Child, Preschool
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China
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Enzyme-Linked Immunosorbent Assay
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Female
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Humans
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Infant
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Male
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Receptors, Transferrin
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blood
5.The Variations of the Concentration of Formaldehyde in Indoor Air of Newly Decorated Living Rooms
Songshu JIA ; Dian HU ; Jing WANG
Journal of Environment and Health 1989;0(06):-
Objective To study the characteristics of the variations of formaldehyde concentration in indoor air of newly decorated living rooms. Methods The formaldehyde concentrations in indoor air of newly decorated rooms were determined with model 4160_2 formaldehyde analyzer during the different periods after decoration. Results At the 10th minute after closing all the windows and doors in the newly decorated rooms, the formaldehyde concentrations of indoor air exceeded the standard nearly as high as 2 times, reached 51% of the peak concentration at the 30th minute, and reached the peak concentration (0.652 mg/m 3) at the 420th minute, then decreased gradually with the prolongation of periods after decoration and accorded with the sanitary standard in the 4th month after decoration. The whole study was carried out at the indoor air temperature of 27.8～29.9 ℃. Conclusion The indoor air pollution by formaldehyde was serious in newly decorated living rooms. The ventilation should be enhanced during the first 4_month period after decoration, so that the formaldehyde concentration could be decreased gradually.
6.Inhibition of retinal angiogenesis by PEDF
International Eye Science 2008;8(2):223-225
AIM: To investigate the effect of PEDF on retinal neovascularization in mice. METHODS: 40 7-day-old C57BL/6J mice was exposed to 750mL/L oxygen for 5 days and then to normal situation to produce the murine model of oxygen-induced retinopathy(OIR). One eye of the mouse was regarded as experimental one and the other served as control. Eyes in experimental group received intravitreal injection of PEDF and eyes in control group received intravitreal injection of PBS at postnatal day 12. All mice were executed at postnatal day 17. The changes of retinal vessels of mice were observed by ADPase histochemical technique. The inhibitory effect of PEDF on retinal neovascularization was evaluated by counting the endotheliocyte nuclei of new vessels which extended from retina to vitreous in the tissue slice of HE staining. RESULTS: Neovascularization was reduced, retinal blood vessels distributed regularly and non-perfusion areas were not found in eyes of experimental group compared with control group. The number of endotheliocyte nuclei of new vessels extending from retina to vitreous was significantly less in the eyes of experimental group (10.18±1.74) than that in control group (38.89±2.98) (P<0.01). Retinal toxicity and inflammatory reactions were not found in tissue slice.CONCLUSION: PEDF inhibits retinal angiogenesis in OIR and the feasibility should be determined for use of PEDF in ocular angiogenesis treatment.
7.Study on the information management system of medical equipment
Jun HU ; Zhuoyun WANG ; Dian ZHOU
China Medical Equipment 2014;(12):84-85,86
Objective: To explore how to implement the medical equipment management reasonably, normatively, scientifically. Methods:The digital management of medical equipment of the hospital is implemented in our hospital by the method of system analysis. Results:There are a great number of data and material needs to be integrated, collected and recycled in each link of medical equipment management in the process. All data after reasonable integration can improve the quality and of medical equipment effectively. Conclusion: It can provides a favorable basis for the hospital management decision by analysis the management data of a certain type medical equipment, using dynamic regulation process of medical equipment in the life cycle, through the information management system of medical equipment.
8.Analysis of the Constituents of Volatile Oil from Nervilla fordii by Gas Chromatography - Mass Spectrometry
Qin DU ; Junhua WANG ; Zhenhua WANG ; Dian CHEN ; Honghua XU
Journal of Guangzhou University of Traditional Chinese Medicine 2001;0(03):-
[Objective] To analyze the constituents of volatile oil from Nervilla fordii (NF) by gas chromatography-mass spectrometry (GM-MS). [Methods] Volatile oil was extracted from NF by steam distillation and the constituents of volatile oil were isolated and identified by GM-MS. The relative contents of the volatile constituents were calculated by ionic flow chromatographic area normalization method. [Results] Eighty-nine components were separated. Among them, fifty-three components were identified, accounting 91.82% of the total volatile oil. [Conclusion] The main constituents identified from NF were: 2-pentadecanone, 6,10,14-trimethyl (13.55%), 4-ethyl-trans-3-thiobicyclo [4,4,0] decane (6.54%), benzenesulfonamide, 4-methyl-N- (2-oxo-2 phenylethyl) (6.33%), phytol (6.32%),?-carinol (4.54%), ?-ionone (4.43%), caryophyllene oxide (4.13%). The amount of the above constituents accounts 45.84% of the total volatile oil.
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