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OBJECTIVE@#To investigate the clinical phenotype and genetic diagnosis of an infant featuring multiple hair and hyperbilirubinemia.@*METHODS@#Conventional G-banding analysis, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) for the patient were conducted, G-banding analyses of peripheral blood for the infant's parents were also performed.@*RESULTS@#We investigated an infant who carries a unbalanced, maternally inherited karyotype 46, X, der (X) t (X;1) (p11.22; q21.3) in which CMA and FISH analyses disclosed a 1q21.3q44 duplication of 93.03 Mb and Xp22.33p11.22 deletion of 54.53 Mb.@*CONCLUSION@#The phenotypes of this infant can probably be attributed to the 1q21.3q44 duplication and Xp22.33p11.22 deletion, which were maternally inherited.
Subject(s)
Humans , Chromosome Banding , Chromosome Deletion , Genetic Testing , In Situ Hybridization, Fluorescence , Karyotyping , Translocation, GeneticABSTRACT
OBJECTIVE@#To investigate laryngopharyngeal reflux effect on expression of COX-2mRNA in glottis carcinoma lesion mucosa.@*METHOD@#Forty cases with glottic laryngeal cancer were examined by electronic naspharyngeal laryngoscope and scored by the reflux symptom index (RSI) and the reflux finding score(RFS). Based on the scores, they were divided into two groups:glottic laryngeal cancer with positive reflux(20 cases) and glottic laryn geal cancer with negative reflux (20 cases). Ten cases with adjacent normal membrane were used as control group. The mRNA expression of CoX-2 from 40 patients was examined by reverse transcription polymerase chain reaction (RT-PCR).@*RESULT@#The expression of COX 2mRNA in tumor samples was significantly higher than that in normal tissues (P < 0.05); the expression of COX-2mRNA in glottic laryngeal cancer with positive reflux was significantly higher than that in glottic laryngeal cancer with negative reflux (P < 0.05).@*CONCLUSION@#Laryngopharyngeal reflux factors may increased expression glottic carcinoma of COX-2mRNA by tissue injury, inflammation and cell malig-
Subject(s)
Female , Humans , Male , Cyclooxygenase 2 , Genetics , Metabolism , Glottis , Laryngeal Neoplasms , Metabolism , Laryngopharyngeal Reflux , Metabolism , Mucous Membrane , Metabolism , RNA, Messenger , Metabolism , Reverse Transcriptase Polymerase Chain ReactionABSTRACT
BACKGROUND:The interaction of neural network and motor function in post-stroke brain tissue remains unclear. OBJECTIVE:To observe neural network impairment fol owing subacute stroke by using diffusion tensor imaging, and to investigate the relationship with neurological defects and motor dysfunction. METHODS:A total of 19 patients after subactue stroke and 20 healthy adults were examined with diffusion tensor imaging. The fol owing parameters were compared:fractional anisotropy, apparent diffusion coefficient, asymmetry indices of fractional anisotropy and apparent diffusion coefficient. The neurological defect and motor function were evaluated with the corresponding scales. The 10-meter walking speed was measured. The correlation of diffusion tensor imaging parameters with the scale scores and 10-meter walking speed was analyzed. RESULTS AND CONCLUSION:The stroke group exhibited reduced fractional anisotropy value asymmetry and fractional anisotropy value in bilateral posterior limbs of the internal capsule. Apparent diffusion coefficient value asymmetry and apparent diffusion coefficient value in the posterior limb of the internal capsule were lower than control unaffected side (P<0.05). Apparent diffusion coefficient value and apparent diffusion coefficient value asymmetry in posterior limb of the internal capsule showed a strong negative correlation with Fugl-Meyer assessment scores of the lower extremities (P<0.05). Diffusion tensor imaging parameters is closely linked with motor dysfunction of the lower extremities in subacute stroke patients. Local stroke lesion-caused neurological defect is the leading cause of motor dysfunction of the lower extremities.
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@#Objective To investigate the correlation of motor function and emotion, cognition in patients after stroke. Methods 15 sub-acute stroke patients were included. They were assessed with Fugl-Meyer Assessment (FMA)、10 m walking speed, Hamilton Rating Scale for Depression (HAMD), Hamilton Rating Scale for Anxiety (HAMA), Mini-Mental State Examination (MMSE), modified Barthel Index (MBI) and SF-36. Fractional anisotropy (FA) values, apparent diffusion coefficient (ADC), and asymmetry indices of ADC and FA were obtained from diffusion tensor imaging. The correlation among them were analyzed. Results There was no correlation between the scores of FMA, 10 m walking speed and HAMD, HAMA, MMSE (P>0.05). The scores of HAMD, HAMA and MMSE correlated with emotional function of SF-36 (P<0.05). The HAMA score negatively correlated with body pain of SF-36. The FA value of the posterior limb of the internal capsule were negatively correlated with HAMD (P<0.05). Conclusion Neural network defect can cause emotion changes in stroke patients, but the motor function was not correlated with the emotion. Emotion and cognition may affect quality of life in these patients.