ABSTRACT
Spinal muscular atrophy (SMA) is a disorder characterized by degeneration of lower motor neurons and occasionally bulbar motor neurons leading to progressive limb and trunk paralysis as well as muscular atrophy. Three types of SMA are recognized depending on the age of onset, the maximum muscular activity achieved, and survivorship: SMA1, SMA2, and SMA3. The survival of motor neuron (SMN) gene has been identified as an SMA determining gene, whereas the neuronal apoptosis inhibitory protein (NAIP) gene is considered to be a modifying factor of the severity of SMA. The main objective of this study was to analyze the deletion of SMN1 and NAIP genes in southern Chinese children with SMA. Here, polymerase chain reaction (PCR) combined with restriction fragment length polymorphism (RFLP) was performed to detect the deletion of both exon 7 and exon 8 of SMN1 and exon 5 of NAIP in 62 southern Chinese children with strongly suspected clinical symptoms of SMA. All the 32 SMA1 patients and 76% (13/17) of SMA2 patients showed homozygous deletions for exon 7 and exon 8, and all the 13 SMA3 patients showed single deletion of SMN1 exon 7 along with 24% (4/17) of SMA2 patients. Eleven out of 32 (34%) SMA1 patients showed NAIP deletion, and none of SMA2 and SMA3 patients was found to have NAIP deletion. The findings of homozygous deletions of exon 7 and/or exon 8 of SMN1 gene confirmed the diagnosis of SMA, and suggested that the deletion of SMN1 exon 7 is a major cause of SMA in southern Chinese children, and that the NAIP gene may be a modifying factor for disease severity of SMA1. The molecular diagnosis system based on PCR-RFLP analysis can conveniently be applied in the clinical testing, genetic counseling, prenatal diagnosis and preimplantation genetic diagnosis of SMA.
Subject(s)
Child , Child, Preschool , Female , Humans , Infant , Male , China , Epidemiology , Gene Deletion , Genetic Predisposition to Disease , Epidemiology , Genetics , Incidence , Neuronal Apoptosis-Inhibitory Protein , Genetics , Polymorphism, Single Nucleotide , Genetics , Spinal Muscular Atrophies of Childhood , Epidemiology , Genetics , Survival of Motor Neuron 1 Protein , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To investigate the effect of morphine chloride on small intestinal muscle in vitro or in vivo and its mechanisms.</p><p><b>METHODS</b>Contractile amplitude, tension and frequency of the isolated small intestine of rabbits were measured before and after treatment of morphine chloride. The propulsive distance of magenta in intestinal tract was measured when different concentration of morphine chloride was given orally in mice.</p><p><b>RESULT</b>After treatment of different concentration of morphine chloride (5 mg/L, 10 mg/L, 30 mg/L), the contractile activities of isolated small intestines of rabbits decreased significantly. The inhibitory effect of morphine chloride was blocked by naloxone, atropine, but potentiated by regitine. The propulsive distance of magenta in intestinal tract of intact mouse decreased after treatment with morphine chloride of various concentration (75, 150, 300 mg/L).</p><p><b>CONCLUSION</b>Morphine chloride has an inhibitory effect on the contractility of rabbit small intestine in vitro or in vivo. Opioid receptor, choline and adrenal receptor might be involved in this effect.</p>
Subject(s)
Animals , Female , Male , Mice , Rabbits , Gastrointestinal Transit , In Vitro Techniques , Intestine, Small , Morphine , Pharmacology , Muscle Contraction , Muscle, SmoothABSTRACT
The aim of this study is to investigate the effect of monoammonium glycyrrhizinate (MAG) on lipopolysaccharide (LPS) -induced acute lung injury (ALI) and its anti-inflammatory mechanism in mice. All male ICR mice were randomly divided into six groups: LPS group; control group; MAG 3, 10, and 30 mg x kg(-1) groups; and dexamethasone (DXM) 5 mg x kg(-1) group. Lung dry weight and wet weight percentage and permeability were detected. Neutrophil infiltration in bronchoalveolar lavage fluid (BALF) and lung tissues was detected by cell count and morphological analysis. The levels of TNF-alpha and IL-10 in lung were detected by ELISA. MPO activity was determined followed the specification. MAG induced a decrease in lung wet weight/dry weight ratio, and significantly decreased in total leucocyte number and neutrophil percentage in the BALF, and MPO activity of lung in a dose-dependent manner. Importantly, It could up-regulate the IL-10 level and down-regulate the TNF-alpha level in the lung tissue of ALI mice. These results suggested that the protective effect of MAG in mice on LPS induced ALI was associated with the regulation of TNF-alpha/IL-10 balance, and MAG maybe a potentially treatment for ALI/ARDS.