Concordancia entre las escalas clínicas y los índices derivados del laboratorio de análisis del movimiento en el estudio de la marcha en niños con insuficiencia motora de origen central (IMOC) / Concordance between clinical scales and indexes derived from gait analysis studies of in children with cerebral palsy

Introducción La parálisis cerebral infantil (PC) se clasifica en términos de función según varias escalas: unas son clínicas, como el GMFCS (Gross Motor Function Classification System), FMS (Functional Mobility Scale) y el cuestionario de evaluación funcional FAQ, (Gillette Functional Assessment Walking Scale), y otras, realizadas en el laboratorio de movimiento, como el GDI (Gait Deviation Index) y el GPS (Gait Profile Score). El objetivo del estudio fue establecer la concordancia entre las escalas clínicas y las escalas derivadas del laboratorio de análisis de movimiento. Metodología Se incluyó a 104 niños entre 5 y 16 años con diagnóstico de PC. Se realizó un estudio transversal y retrospectivo en que se analizaron los datos de 3 escalas clínicas de movilidad funcional y un análisis en 3D de la marcha, realizado en el laboratorio de análisis de movimiento con un equipo SMART-D/BTS y dos plataformas de fuerza. Resultados Respecto a la concordancia entre las escalas evaluadas, encontramos que el valor más alto de kappa (0,416) se obtuvo al confrontar FAQ y FMS a 50 m, lo que demostró una concordancia moderada. El resto de valores de kappa al comparar las diferentes escalas fueron menores a 0,4. Al relacionar las escalas según el porcentaje de acuerdo, encontramos que el mayor fue entre FMS y GPS con el 62,5%, seguido del 60,5% entre FAQ y FMS. Discusión No siempre una correlación aceptable significa una alta concordancia para clasificar a los pacientes en el mismo nivel de compromiso. La baja concordancia entre la mayoría de las escalas indica que el análisis de la marcha en el niño con PC debe realizarse de manera complementaria y llevar a cabo una evaluación con escalas clínicas, de calidad de vida, de funcionalidad y con el laboratorio de análisis de movimiento. Nivel de evidencia clínica. Nivel II.

Background Cerebral Palsy (CP) in children can be classified in terms of function according to several scales, some clinics such as GMFCS (Gross Motor Function Classification System), FMS (functional mobility Scale), FAQ (Gillette Functional Assessment Walking Scale); and others carried out in gait analysis such as the GDI (Gait Deviation Index), GPS (Gait Profile Score). The aim of this study was to determine the concordance between the clinical and gait analysis scales. Methods 104 children between five and sixteen years old diagnosed with Cerebral palsy were included. A cross sectional and retrospective study analyzed data from three clinical scales of functional mobility and a 3D gait analysis were carried out in gait analysis laboratory, using a SMART-D/BTS equipment and two strength platforms. Results Regarding the concordance between the scales evaluated, we found that the highest value of kappa (0416), occurred when confronting FAQ and FMS at 50 m, showing a moderate concordance. The remaining values of Kappa when comparing the different scales were smaller than 0.4. While when comparing the scales according to the percentage of agreement we found that the highest percentage was 62.50% when comparing FMS against GPS, followed by 60.50% when comparing FAQ against FMS. Discussion Not always an acceptable correlation means a high agreement to classify patients at the same level of involvement. The low correlation between most of the scales indicates that the gait analysis in children with Cerebral Palsy should be performed in a complementary manner, performing an assessment with clinical scales, quality of life, and functionality and with instrumented motion analysis. Evidence level. II.

Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family

Abstract X-linked intellectual disability (XLID) has been associated with various genes. Diagnosis of XLID, especially for non-syndromic ones (NS-XLID), is often hampered by the heterogeneity of this disease. Here we report the case of a Chinese family in which three males suffer from intellectual disability (ID). The three patients shared the same phenotype: no typical clinical manifestation other than IQ score ≤ 70. For a genetic diagnosis for this family we carried out whole exome sequencing on the proband, and validated 16 variants of interest in the genomic DNA of all the family members. A missense mutation (c.710G > T), which mapped to exon 6 of the Rab GDP-Dissociation Inhibitor 1 (GDI1) gene, was found segregating with the ID phenotype, and this mutation changes the 237th position in the guanosine diphosphate dissociation inhibitor (GDI) protein from glycine to valine (p. Gly237Val). Through molecular dynamics simulations we found that this substitution results in a conformational change of GDI, possibly affecting the Rab-binding capacity of this protein. In conclusion, our study identified a novel GDI1 mutation that is possibly NS-XLID causative, and showed that whole exome sequencing provides advantages for detecting novel ID-associated variants and can greatly facilitate the genetic diagnosis of the disease.

Research progress of D4-GDI in the pathogenesis of lung cancer / 国际肿瘤学杂志

As one of the main members of the Rho GDI dissociation inhibitory factors,D4-GDI inhibits the dissociation of Rho protein and GDP,which is also involved in a wide range of celluar functions,such as cell contraction,adhesion,migration,proliferation and apoptosis.Recently,accumulating evidence has been suggested that D4-GDI is involved in the pathogenesis of several pulmonary diseases,such as lung cancer.Intervention of D4-GDI expression may improve the pathological changes and prognosis of these diseases.

Effect of LHI,SMI and GDI in treating diabetic nephropathy / 中成药

AIM: To investigate the therapeutic effect of Ligustrazine Hydrochloride Injection(LHI) plus Salvia miltiorrhiza Injection(SMI) and LHI plus Ginkgo leaf extract and Dipydamole Injection(GDI) in treating diabetic microalbuminuria. METHODS: 75 inpatients were randomly divided into group SMI(n=35) and group GDI(n=40).Group SMI was treated with LHI 160 mg plus SMI 20 mL intravenous drip daily for 14 days and group GDI with LHI 160 mg plus GDI 20 mL.Their blood samples were collected for measuring glucose,insulin,HbA1c,lipid,creatine and uroacid, and their urine samples for measuring microalbuminuria before and after treatment.The results were statistically(analyzed.)(RESULTS: Before)(treatment,) triglyceride and cholesterol concentrationincreased significantly in group SMI than in group GDI(all P

Research of 2D Medical Image Magnification / 医疗卫生装备

Objective To find a programming method of magnifying two-dimentional medical image for clearer view and more precise diagnosis. Methods The software was programmed by using Microsoft Visual C++6.0 and GDI+ Class Library on Windows 2000 operating system. Results The software could magnify the medical images with high quality and definition. Conclusion This method is valuable for medical image digital post-processing.