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.

Anemia, Iron-Deficiency ; blood ; diagnosis ; Biomarkers ; blood ; Child ; Child, Preschool ; China ; Enzyme-Linked Immunosorbent Assay ; Female ; Humans ; Infant ; Male ; Receptors, Transferrin ; blood

Drugs, Chinese Herbal ; pharmacology ; Embryo Implantation ; drug effects ; Endometrium ; drug effects ; physiology ; Female ; Humans

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.

Acupuncture Therapy ; Adolescent ; Adult ; Ataxia ; congenital ; drug therapy ; therapy ; Child ; Combined Modality Therapy ; Drugs, Chinese Herbal ; administration & dosage ; Female ; Humans ; Male ; Moxibustion ; Spinal Cord Diseases ; congenital ; drug therapy ; therapy ; Young Adult

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.

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.

[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.

OBJECTIVETo observe the effect of Yishen Zhongzi Pill (YZP) on the sperm motility of Shen-essence deficiency syndrome (SEDS) patients.

METHODSTotally 144 patients were randomly assigned to the treatment group (71 cases) and the control group (73 cases). Ten cases dropped out during the therapeutic course. A total of 134 patients completed this clinical study, 67 in each group. Patients in the treatment group took YZP (6 g each time, twice daily), while those in the control group took Wuzi Yanzong Pill (6 g each time, twice daily). The therapeutic course for all was one month. Changes of the sperm motility, clinical efficacy, and Chinese medical symptoms scores were observed between the two groups before and after treatment.

RESULTSCompared with before treatment in the same group, percentages of class a spermatozoa and class a + b spermatozoa were enhanced in the two groups after treatment (P <0. 01). Besides, they were higher in treatment group than in the control group (P <0. 05). The total effective rate of the treatment group was 77. 61 % (52/67 cases), while it was 58. 21 % (39/67 cases) in the control group. It was better in the treatment group than in the control group (Z= -2. 914, P =0. 004). Compared with before treatment in the same group, scores for Chinese medical symptoms decreased in the two groups (P <0. 01). The difference of pre-post integrals was higher in the treatment group than in the control group (P <0. 01).

CONCLUSIONYZP showed favorable effect in treating asthenospermia patients with SEDS and could effectively elevate the motility of sperm.

Asthenozoospermia ; therapy ; Biomedical Research ; Drugs, Chinese Herbal ; Humans ; Male ; Medicine, Chinese Traditional ; Oils, Volatile ; Phytotherapy ; Sperm Motility ; Spermatozoa ; Syndrome

To explore the relations of Morphology Immnuophe-notype Cytogenetics Molecular biology(MICM) detection on diagnosis andtreat,emt of leukemia． Methods: 68 cases of leukemia patients had beenanalyzed by morphology(FAB)． Immunohistochemistry(Flow Cytometry, FCM)． chromosome G banding technique and dual-color fluorescence insitu hybridization (D-FISH)．Technique:All patients were treated bychemotherapy． T test and X2 test of significance． Results: 7 cases have acute leukema aberration antigen expression． 5 out of 47 cases acutemyeliod leukemia patients accompany lymhocytic interrelated antigenexpression． 2/l5 cases acute lymphoid leukemia accompany myelocyteinterrelated antigen expression． 2 cases acute lmphoid leukemia are T cell and B cell interrelated antigen mingle expression． had been examined46,XY,t(8,2l) translocation of chromosome and bcr/abl fusion genes inthe acute leukemia patients． 16 out of 20 chronic myeloid leukemia patientshad philadelphia chromosome． 7 out of 20 patients had complicate karyotype． 5 out of 20 patients had bcr/abl fusion gene, l out of 4 patient had bcr/abl fusion gene that Ph chro mosome showed negative in CML． 3/4 cases patients had complicate chromosome． The ratio of CR use l time chemotherapy and the total ratio of CR using 2 times chemotherapywith aberration antigen expression in acute leukemia was significantly lessthan those of the acute leukemia patient had single system antigenexpression(P<0.05)． The time of CML-BC with complicate c hromosome karyotype was significantly short than those of Ph showed negative in CML(P<0.05)． Conclusion: The MICM classification is more acc urate for diagnosis of leukemia and more significant in guiding the leukemiatreamen．