Humans ; Infant, Newborn ; Male ; Poland Syndrome

AlM: To investigate the effect of endocapsular phacoemulsification cataract extraction and intraocular lens (lOL) implantation with a 1. 8mm or 3. 0mm clear corneal incision on total root mean square ( RMS ) value of the cornea, corneal astigmatism, spherical aberration, coma, trefoil and tear film.
METHODS:ln a prospective study, 156 age- related patients ( 196 eyes ) were randomly distributed into two groups. 1. 8mm-group comprised 94 eyes that had a silicone lOL inserted through a 1. 8mm sutureless clear corneal incision, while, 3. 0mm- group comprised 102 eyes through a 3. 0mm clear corneal incision. Postoperatively, the changes in the total RMS value of the cornea, corneal astigmatism, spherical aberration, coma, trefoil and tear film at 1wk, 1 and 3mo were determined respectively.
RESULTS:ln both groups, postoperatively at 1wk,there were statistically significant differences ( P<0. 05 ) in the total RMS value of the cornea, corneal astigmatism, spherical aberration, coma, trefoil and tear film, while, there were statistically minimal differences ( P< 0. 05 ) between 1. 8mm-group and 3. 0mm-group at 1mo, but were not statistically significantly different ( P > 0. 05 ) between two groups at 3mo postoperative.
CONCLUSlON:This study confirms that incision size has strong impact on the corneal higher-order aberrations, especially, 3. 0mm incision caused significant differences in the total RMS value of cornea, corneal astigmatism, spherical aberration, coma, trefoil and tear film compared with 1. 8mm micro-incision, therefore, micro-incision is very beneficial for clinical use in phacoemulsification.

Objective The purpose of this paper is to screen inborn errors of meta bolism (IEM) by analyzing urinary components, so as to provide laboratory guide for their diagnosis and therapy.Methods Urine samples of patients suspected to have IEM were collec- ted.Urea was de compo sed with urease and n-heptadecanoic acid was added as internal standard.Protein was denatured with ethanol and precipitate was removed by centrifugation,dried b y evaporation, the residue was trimethylsilylly derivatized with BSTFA/TMCS,and then analyzed with GC-MS for quantification of organic acids, amino acids,suga rs, polyols, purines and pyrimidines, simultaneously. This procedure is denom inated as urease pretreatment-gas chromatography-mass spectrometry (UP-GC-MS) internationally.Results Urinary samples of 327 patients from 6 provinces, cities and autonomous regions were analyzed,and 16 kinds of 27 cases of IEM were screened out with a positiv e rate of 8.26%,among which there were 3 cases of hyperphenylalaninemia,3 cases of glyceroluria,3 cases of Leigh syndrome, 2 cases of propionic acidemia, 2 case s of methylmalonic aciduria, 2 cases of von Gierke′s disease, 2 cases of fructo se-1,6-diphosphatase deficiency, 2 cases of fructosuria, 1 cases of multiple car boxylase deficiency, 1 cases of glutaric acidemia typeⅠ, 1 cases of maple sy rup urine disease, 1 cases of hyperglycinemia, 1 cases of 3-aminoisobutyric acid uria,1 cases of adult-onset typeⅡcitrullinemia,1 cases of galactosemia and 1 ca ses of Fanconi′s syndrome.Several IEM patients above had died,but satisfactory therapeutic effects had been achieved in some diseases,in cluding multiple carboxylase deficiency,methylmalonic aciduria and galactosemia. Other patients′ condition remained to be followed up.Conclusion Analysis of urinary components by UP-GC-MS provides a valuable tool for screenin g of IEM and the results will help to provide effective diagnostic and therapeut ic guide for the patients. J Appl Clin Pediatr,2005,20(2):142-144

The authors proposed remedial measures for traditional Chinese medicine (TCM) products export faced with technical barriers to trade (TBT) according to analyzing the impact of TBT on TCM product export with economic theories, and putting forward countermeasures based on evaluation researches. TBT can be effectively coped with by the joint efforts of government, enterprises and industry association. Not only TBT can be broken through but also TCM product export can be expanded by the coordination and cooperation of our country and the society.
Commerce ; Drug Industry ; Medicine, Chinese Traditional

To study the chemical constituents of Periplocae Cortex, the separation and purification of 70% alcohol extract were carried out by column chromatographies on AB-8 macroporous resin, silica gel and preparative HPLC. The structure of the compounds were identified by NMR and TOF-MS. A new compound was isolated and identified as 21-O-methyl-Δ5-pregnene-3β, 14β, 17β, 21-tetraol-20-one-3-O-β-D-oleandropyranosyl(1-->4)-β-D-cymaropyranosyl-(1-->4)-β-D-cymaropyranosyl (1), named as periplocoside P.
Glycosides ; chemistry ; isolation & purification ; Periploca ; chemistry ; Pregnenes ; chemistry ; isolation & purification ; Saponins ; chemistry ; isolation & purification

Cryptococcosis ; etiology ; pathology ; Glycogen Storage Disease Type I ; complications ; pathology ; Humans ; Infant ; Male ; Meningitis, Fungal ; etiology ; pathology

OBJECTIVETo investigate the effects of transforming growth factor-beta1 (TGF-beta1) gene therapy on bone defect and bone rarefaction around endosseous implant.

METHODSThe primary cultured bone marrow derived stroma cells (BMSCs) was transfected by plasmid pCDNA3.1(+) -TGF-beta1, and was adhered with polylactic-co-glycolic acid (PLGA) for constructing TGF-beta1 gene-modified artificial bone. The model of rats with placed titanium implants in the proximal metaphyses of the tibiae after ovariectomy was made. The TGF-beta1 gene-modified artificial bone (experimental group), BMSCs-PLGA compound artificial bone (control group) and nothing (blank control group) were placed in the bone defect around implant. The tibiae were examined by decalcified sections with immunohistochemical method and histological analysis methods at intervals of 4 and 8 weeks after implant surgery in order to detect the expression of TGF-beta1 in new bone adjacent to the implant and the healing of the bone defect around the implant.

RESULTSThe expression level of TGF-beta1 of experimental group was higher than that of control group and blank control group at the 4th week. The histological analysis indicated that the gene-modified artificial bone had stronger osetogenic potential than others.

CONCLUSIONTGF-beta1 gene-modified artificial bone promotes the repair of the bone defect around titanium implants in osteoporotic rats.

Animals ; Bone and Bones ; Cells, Cultured ; Dental Implantation, Endosseous ; Dental Implants ; Female ; Genetic Therapy ; Prostheses and Implants ; Rats ; Stromal Cells ; Titanium ; Transfection ; Transforming Growth Factor beta1

Alagille syndrome (ALGS) is an autosomal dominant disease affecting multiple systems including the liver, heart, skeleton, eyes, kidneys and face. This paper reports the clinical and genetic features of an infant with this disease. A 3-month-and-10-day-old female infant was referred to the hospital with jaundiced skin and sclera for 3 months. Physical examination revealed wide forehead and micromandible. A systolic murmur of grade 3-4/6 was heard between the 2th and 3th intercostal spaces on the left side of the sternum. The abdomen was distended, and the liver palpable 3 cm under the right subcostal margin with a medium texture. Serum biochemistry analysis revealed abnormal liver function indices, with markedly elevated bilirubin (predominantly direct bilirubin), total bile acids (TBA) and gamma-glutamyl transpeptidase (GGT). Atrial septal defect and pulmonary stenosis were detected on echocardiography. Next generation sequencing detected entire deletion of the JAG1 gene, and then chromosomal microarray analysis revealed a novel interstitial deletion of 3.0 Mb in size on chr20p12.3p12.2, involving JAG1 gene. The child had special facial features, heart malformations, and cholestasis, and based on the genetic findings, ALGS was definitively diagnosed. Thereafter, symptomatic and supportive treatment was introduced. Thus far, the infant had been followed up till his age of 11 months. The hyperbilirubinemia got improved, but GGT and TBA were persistently elevated, and the long-term outcome needs to be observed. This study extended the JAG1 mutation spectrum, and provided laboratory evidences for the diagnosis and treatment of the patient, and for the genetic counseling and prenatal diagnosis in the family.
Alagille Syndrome ; genetics ; Bile Acids and Salts ; blood ; Child, Preschool ; Chromosome Deletion ; Humans ; Jagged-1 Protein ; genetics ; Male ; gamma-Glutamyltransferase ; blood

The first genetic linkage map of Salvia miltiorrhiza was constructed in 94 F1 individuals from an intraspecific cross by using simple sequence repeat (SSR), sequence-related amplified polymorphism (SRAP) and inter-simple sequence repeat (ISSR) markers. A total of 93 marker loci in the linkage map, consisting of 53 SSR, 38 SRAP and 2 ISSR locus were made up of eight linkage groups, covered a total length of 400.1 cm with an average distance of 4.3 cm per marker. The length of linkage groups varied from 3.3 -132 cm and each of them included 2-23 markers, separately. The result will provide important basis for QTL mapping, map-based cloning and association studies for commercially important traits in S. miltiorrhiza.
Chromosome Mapping ; Genetic Linkage ; Genetic Markers ; Microsatellite Repeats ; Polymorphism, Genetic ; Salvia miltiorrhiza ; genetics

OBJECTIVETo investigate the feasibility of promoting nerve regeneration by using microcapsulated NGF-expressing cells transplantation.

METHODSThe plasmid pcDNA3. 1 + /NGF, containing rat NGF gene, was transfected into the NIH 3T3 cell by using FuGENE6 transfection reagent. The genetically modified cells expressing NGF gene were enclosed within the alginate-polylysine-alginate (APA) microcapsules and then cultured in vitro. The growth and NGF secretion of the cells were measured periodically. At the same time, these microcapsulated NGF-expressing cells were transplanted into the injured sciatic nerve. The regeneration and functional recovery of the nerve were evaluated in 4 weeks, 8 weeks and 12 weeks after the operation.

RESULTSThe microcapsulated cells had survived and secreted the NGF in three months in vitro. In the group with microcapsulated NGF-expressing cells, the number of the regenerated axons was in large and the nerve fibers were arranged regularly. Compared to other groups, there was less scar , edema and monocytes found at the stoma in the goup. The moter nerve conductive velocity, nerve muscle-action potential and SFI were improved.

CONCLUSIONSThe microcapsulated NGF-expressing cells could significantly enhance the nerve regeneration and reduce inflammatory response of xenograft.

Animals ; Cell Transplantation ; Female ; Male ; Mice ; NIH 3T3 Cells ; Nerve Growth Factor ; biosynthesis ; genetics ; Nerve Regeneration ; Rats ; Rats, Sprague-Dawley ; Transfection