ABSTRACT
<p><b>OBJECTIVE</b>To diagnose a neonate presenting with multiple dysmorphic features, Cri-du-chat signs and hypoglycemia and to correlate the phenotype with the genotype.</p><p><b>METHODS</b>The patient was diagnosed with conventional cytogenetics and real-time fluorescence quantitative PCR (QF-PCR). The phenotype was then correlated with the genotype through a review of literature.</p><p><b>RESULTS</b>The neonate was diagnosed with a partial 13q trisomy (q12 → qter) and partial 5p monosomy (p15 →pter).</p><p><b>CONCLUSION</b>A rare diagnosis has been established with combined cytogenetic and molecular genetic techniques. QF-PCR has a broad application in genetic diagnosis.</p>
Subject(s)
Female , Humans , Infant, Newborn , Male , Chromosomes, Human, Pair 13 , Genetics , Chromosomes, Human, Pair 5 , Genetics , Cri-du-Chat Syndrome , Diagnosis , Genetics , Cytogenetics , Infant, Newborn, Diseases , Diagnosis , Genetics , Trisomy , Diagnosis , GeneticsABSTRACT
Objective In order to get reference data for diagnosis of clinical genetic disease through analyzing chromosome ab‐normality types and rates in 885 patients who ask for cytogenetics consultation in recent years .Methods 324 newborns who asked for cytogenetics consultation because of high risk factors in down′s screening during pregnancy or found abnormality in physical ex‐amination after birth and 561 patients with history of spontaneous abortion ,infertility or fetal death ,growth or mental retardation , sexual abnormality were examined for karyotype analysis .Results 116 cases of chromosome abnormal karyotypes were detected , count for 13 .11% ,among which ,40 cases(34 .48% ) are chromosomal aberration .Chromosome abnormality types and rates are dif‐ferent in patients with different type of diseases .Conclusion Abnormalities in chromosome numbers and sex chromosome abnor‐mality account for the main causes of growth and mental retardation ,abnormalities of sexual differentiation and development ;but for couples suffered from spontaneous abortion ,polymorphism and structure abnormalities takes up the highest portion .
ABSTRACT
BACKGROUND:Rehabilitation training equipments play an important role in the rehabilitation treatment. Because of poor muscle strength and joint mobility in patients, we must guarantee the safety of rehabilitation training equipments. OBJECTIVE:To design a new suitable man-machine interface that ensures patients can use rehabilitation equipments and even parts of fitness equipments safely. METHODS:Through user experience research, we found the flaws of the existing rehabilitation equipment. Depending on the principles of ergonomics, we designed a new man-machine interface for upper limb exercise through survey and computer-aided design. RESULTS AND CONCLUSION:The new man-machine interface program achieves the rapid wear and discharge between patients and rehabilitation training equipment, and importantly, it can automatical y separate people from the equipment when the patient's body discomforts or equipment failure appears. What’s more, this man-machine interface can be promoted to other fitness equipments. As a result, rehabilitation training for patients wil be more convenient.
ABSTRACT
BACKGROUND: Utilizing tissue engineering technique, various gel systems are served as scaffolds to repair bone defect. The scaffolds should have features of nontoxic and no teratological effects to the body. OBJECTIVE: To observe the effect of sodium alginate-gelatin/osteoblast gel on chromosomal pattern aberration in rabbits. DESIGN, TIME AND SETTING: The in vivo material animal experiments were conducted at the Beijing Shijitan Hospital and Department of Histology and Embryology, Peking University Health Science Center from October 2007 to March 2008. MATERIALS: A total of 12 New Zealand rabbits, aged 2 months, with clean grade, were randomly divided into 2 groups. The experimental group contains 4 female and 4 male rabbits, and the remaining 4 females were served as the control group. Sodium alginate dried powder were purchased from Sigma, USA, and the gelatin dried powder were supplied by Liidao Company, Hebei, China. METHODS: Following numbering, bone marrow was collected from 12 rabbits. Bone marrow stromal stem cells (BMSCs) were isolated by the density gradient centrifugation, and then in vitro cultured with osteoblast inductor. Osteoblasts following passage were an order of magnitude of 10~7. Bright pink gelatiniform liquid with mass ratio of sodium alginate and gelatin at ratio of 2:3 was prepared. Rabbit osteoblasts with final concentration of 5×10~9/L were mixed with CaCb solution to form fruit jelly-shaped sodium alginate-gelatin/osteoblast gel. Critical-sized calvarial defects were created in diameter of 1.5 cm in 12 rabbits. After 1 week, cell/scaffold complex (0.5 mL) was implanted to repair the bone defect in the experimental group. There was no treatment in the control group. MAIN OUTCOME MEASURES: The change of chromosomal pattern was observed at 3 months following reparation. RESULTS: No Chromosome somatotype aberration was found in 100 metaphases in the experimental group. From 400 metaphases of the control group, 4 abnormal cells were found, with 1% chromatid-type aberration ratio. Meantime, 12 abnormal cells in 800 metaphases of the control group were found, with 1.5% chromatid-type aberration ratio. The numerical value was within the normal range. Chromosome karyotype analysis: the chromosome number of each experimental rabbit was 2n=44, karyotype of the control rabbit was 44, XX, which was normal female; or 44, XY, normal male, no abnormal was found. The female rabbit in the experiment group was 44, XX, no abnormal was seen. CONCLUSION: From the cytogenetoxicity point of view, sodium alginate-gelatin/osteoblast gel is safe in repairing bone defects.