Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Monilethrix is an autosomal dominant hair disorder characterized clinically by alopecia and follicular papules. In this study, we collected a Han monilethrix family to detect the mutations in patients and investigated the correlation between the genotype and phenotype of monilethrix.</p><p><b>METHODS</b>In this study, we identified a Chinese family with monilethrix through light microscopic and scanning electron microscopic (SEM) examination. Genomic DNA from peripheral blood samples was prepared. DNA samples from controls and monilethrix patients were subject to polymerase chain reaction (PCR) amplification. Two pairs of primers were used to amplify the seventh exon of KRT86. Mutation screening of the PCR products was detected using direct sequencing.</p><p><b>RESULTS</b>Light microscopic examination showed a regular alternate enlargement and narrow area. SEM examination showed that part of the cuticle of the nodules shed and disappeared gradually in the narrow area with granular protrusions on the surface similar to the erosion-like structure. Parallel longitudinal ridge and groovepattern appeared, and the ridges varied in width, like dead wood. A heterozygous transversion mutation c.1204G > A (p.E402K) in the seventh exon of KRT86 was identified in both patients.</p><p><b>CONCLUSIONS</b>The mutation of extron 7 of KRT86 identified plays a major role in the pathogenesis of this pedigree with monilethrix, and is a mutation hot spot of KRT86. Further research is needed to explore the relationship between the phenotype and the mutation of the type II hair keratin gene KRT86 of monilethrix.</p>

Clinical application study of modified Moore classification in lower cervical spine injuries / 中国骨伤

<p><b>OBJECTIVE</b>To analyze the clinical application of modified Moore classification in lower cervical spine injuries.</p><p><b>METHODS</b>Modified Moore classification was applied in the morphologic description of 200 patients (including 165 males, 35 females,age ranging from 19 to 88 years,with an average age of 52 years) with lower cervical spine injuries from August 2006 to March 2010, cervical spine injury severity score (quantification of stability) in combination with yes/no neurological injury status to classify their clinical diagnosis and management. The treatment was selected according to the fracture type, stability, compression injury of spinal cord or nerve roots, stability of ligamentous injury and other reference factors. According to the ASIA score, 130 cases with injury of spinal cord or nerve root (i.e. 6 cases in Grade A,13 cases in Grade B,43 cases in Grade C, 68 cases in Grade D); and 70 cases with no injury of spinal cord or nerve root. The ASIA score was applied in the evaluation of curative effect in cases with injury of spinal cord or nerve root. Radiodiagnostics was used to observe sequential measurement of cervical vertebrae and height in cases without spinal cord or nerve root injuries.</p><p><b>RESULTS</b>The cervical spine injury distribution is that 35 cases of anterior, left, right lateral and posterior column injury; 33 cases of anterior column injury; 90 cases of anterior and posterior column injury; 5 cases of anterior, left lateral and posterior column injury; 3 cases of anterior, right lateral and posterior column injuries; 3 cases of anterior, left and right lateral column injuries; 2 cases of anterior and right lateral column injuries; 5 cases of anterior and left lateral column injury; 12 cases of posterior column injury; 7 cases of left lateral column injury; 5 cases of right lateral column injury. Surgery operation was given in 98 patients out of 200 cases. Non-surgical treatment was given to 102 patients (including 39 patients who are qualified to receive operation, but patient's relative required non -surgical treatment). Three cases of complete injury of spinal cord showed no recovery of the spinal cord function after operation, no change on the ASIA score, but pain and numbness of limb relieved slightly. Three non-surgical treatment cases showed no change after the treatment. Cases of incomplete injury of spinal cord showed certain recovery on spinal cord function after operation, and the ASIA score was raised 1.2 grades averagely. The ASIA score of cases of incomplete injury of spinal cord after non-surgical treatment was raised 0.3 grades averagely. The alignment and height of cervical vertebras were normal on post-operative radiodiagnostics in patients without injury of spinal cord or nerve root.</p><p><b>CONCLUSION</b>According to modified Moore classification, when the stability quantification score is higher than or equal to 4, it indicated that the cervical vertebras are instability in lower cervical spine injuries. Surgery operation is required in higher score and less stability cases. Cases associated with neurological injury must receive surgery operation. Cases with stability quantification score equals to 3 and neurological injury should also receive surgery operation in general. Surgery operation is not required in cases of stability quantification equal to 3 and without neurological injury,or cases of stability quantification score lower than 3. Applying modified Moore classification in the treatment of lower cervical spine injuries is beneficial for the clinical standardization, diagnosis and treatment and receives satisfactory therapeutic effects.</p>

Role of extracellular signal-regulated kinase 1/2 in cigarette smoke-induced mucus hypersecretion in a rat model / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Airway mucus hypersecretion is an important pathophysiological feature of chronic obstructive pulmonary disease, which is closely associated with cigarette smoking. However, the signal transduction pathway from the cell surface to the nucleus through which cigarette smoke causes upregulation of mucin gene expression is not well known. This study was designed to investigate the role of extracellular signal-regulated Kinase 1/2 (ERK 1/2) in airway mucus hypersecretion induced by cigarette smoke in rats.</p><p><b>METHODS</b>A rat model of airway mucus hypersecretion was induced by exposure to cigarette smoke for 4 weeks.Rats exposed to inhalation of cigarette smoke or normal saline were given an intraperitoneal injection of U0126, a specific MEK1 kinase inhibitor, at doses of 0.25 mg/kg, 0.5 mg/kg and 1 mg/kg for 14 days. Expression of MUC5AC mRNA and protein, ERK 1/2 and phosphorylated-ERK 1/2 (p-ERK 1/2) were detected by RT-PCR, immunohistochemistry and Western blotting.</p><p><b>RESULTS</b>Cigarette smoke significantly increased airway goblet cells metaplasia, induced the overexpression of MUC5AC mRNA and protein in bronchial epithelia, and increased the ratio of p-ERK 1/2 and ERK 1/2. U0126 significantly attentuated the expression of MUC5AC mRNA and protein induced by cigarette smoke (P < 0.05). Moreover, there was a significant positive correlation between the ratio of p-ERK1/2 to ERK1/2 and the expression of MUC5AC mRNA and protein (P < 0.05).</p><p><b>CONCLUSIONS</b>Inhibition of ERK 1/2 by U0126 decreased the ratio of p-ERK 1/2 to ERK 1/2 and expression of MUC5AC mRNA and protein. ERK 1/2 may play an essential role in cigarette smoke-induced mucus hypersecretion in vivo.</p>

Increased expression of human calcium-activated chloride channel 1 is correlated with mucus overproduction in the airways of Chinese patients with chronic obstructive pulmonary disease / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Chronic obstructive pulmonary disease (COPD) is usually complicated with mucus overproduction in airway. Recently the increased expression of the human calcium-activated chloride channel 1 (CaCC(1)) was found to play an important role in mucus overproduction in the asthmatic airways. To investigate the relationship of CaCC(1) and mucus overproduction in the airway of Chinese patients with COPD, the expressions of CaCC(1), MUC5AC and mucus in bronchial tissues were examined.</p><p><b>METHODS</b>Bronchial tissues were obtained from fiberoptic bronchoscopy and bronchial biopsy in West China Hospital from April to July in 2004. Twenty-five patients were diagnosed as the patients with COPD overproduction, and other 20 were the control subjects. The expressions of CaCC(1), MUC5AC and mucin in bronchial tissues were detected by reverse transcriptase-polymerase chain reaction (RT-PCR), in situ hybridization with digoxigenin (DIG)-labeled RNA probe, immunohistochemical and alcian blue-periodic acid Schiff (AB-PAS) staining, respectively.</p><p><b>RESULTS</b>Compared with the control group, the stronger expressions of CaCC(1) were further detected throughout the bronchial tissues from patients with COPD (P < 0.01). Furthermore, the stronger expressions of the CaCC(1) mRNA were related to the severity of airflow obstruction. Samples from COPD showed a stronger staining for MUC5AC than those in control subjects (P < 0.01) and AB-PAS staining revealed more mucins in COPD patients' submucosal gland comparing with that in control subjects (P < 0.01). Expression levels of the CaCC(1) mRNA were respectively negatively correlated with the patients' forced expiratory volume in one second (FEV(1))/forced vital capacity (FVC) data, FEV(1)% predicted data, V(50)% predicted data, V(25)% predicted data (r = -0.43, r = -0.43, r = -0.35, r = -0.36, P < 0.01, P < 0.01, P < 0.05, P < 0.05). While the expression levels of the CaCC(1) mRNA were well correlated with the expression levels of the MUC5AC mRNA of airway epithelium and the PAS-AB stained area of submucosal glands (r = 0.39, r = 0.46, P < 0.05, P < 0.01). Expression levels of the MUC5AC mRNA were negatively correlated with the patients' FEV(1)/FVC data (P = 0.01), FEV(1)% pred data (P = 0.01), V(50)% predicted data, V(25)% predicted data (r = -0.53, r = -0.53, r = -0.48, r = -0.43, P < 0.01, P < 0.01, P < 0.01, P < 0.01). While the expression levels of the MUC5AC mRNA were well correlated with the positively PAS-AB stained area of submucosal gland (P < 0.05), and the correlation coefficients were 0.43.</p><p><b>CONCLUSION</b>These results suggest that the stronger gene expression of CaCC(1) exists, complicated with mucus overproduction in the airway of Chinese patients with COPD.</p>

Study on serum levels of E- selectin, integrin beta 1 subunit and intercellular adhesion molecule-1 in gastric cancer patients and their clinical implications / 中华胃肠外科杂志

<p><b>OBJECTIVE</b>To evaluate the serum concentrations of E- selectin, integrinbeta(1) subunit and intercellular adhesion molecule-1 in gastric cancer patients and their clinicopathological significance.</p><p><b>METHODS</b>The serum levels of adhesion molecules E- selectin,intercellular adhesion molecule- 1 (ICAM- 1), and integrinbeta(1) were measured by enzyme-linked immunosorbent assay (ELISA) in 47 health subjects (control group) and in 57 patients with gastric cancer (gastric cancer group) before operation and 7 days after operation. Serum levels of above three factors were compared between the two groups.</p><p><b>RESULTS</b>The serum concentrations of E- selectin, integrinbeta(1) subunit and ICAM- 1 were higher in gastric cancer group with positive rate of 24.6% ,33.3% ,28.1% respectively. ICAM- 1 and integrinbeta(1) were significant higher in gastric cancer group than that in the control group (P< 0.01),but there was no significant difference in E- selectin between two groups (P=0.64). Serum concentrations of E-selectin, ICAM-1,and integrinbeta(1) were significantly correlated with clinicopathological features as following: clinicopathological stage,invasion depth,lymph node involvement,and presence of distant metastases(P< 0.05,P< 0.01). The serum levels of E- selectin, ICAM- 1, and integrinbeta(1) were decreased significantly after radical resection of gastric cancer,but not in patients with unresectable tumor. Elevated levels of three molecules were significant prognostic factors for patients with gastric cancer,but it could not independently be used to evaluate tumor stage.</p><p><b>CONCLUSIONS</b>Serum concentrations of E- selectin, ICAM- 1,and integrinbeta(1) may reflect tumor progression and metastasis.</p>

Biological behavior of cardial cancer and its effect on surgical management / 中华外科杂志

<p><b>OBJECTIVE</b>To study the biological behavior of cardial cancer and its influence on surgical management.</p><p><b>METHODS</b>Complete clinicopathologic data of 46 cases with cardial cancer undergoing radical gastrectomy was investigated retrospectively. The relationships between tumor Borrmann type, depth of invasion, growth pattern, lymph node metastasis and 5-year survival rate postoperative were analyzed.</p><p><b>RESULTS</b>Of 46 cases, Borrmann type III, Type IV and Type II was 76% (35/46), 18% (8/46) and 6% (3/46) respectively; 5-year survival rate was 40% (14/35), 0 (0/8) and 100% (3/3) respectively. In respect of the depth of invasion, pT(2) was 31% (14/46) cases with 71% (10/14) lymph node metastasis; and 5-year survival rate was 64% (9/14). pT(3) was 15% (7/46) cases with 86% (6/7) lymph node metastasis; and 5-year survival rate was 57% (4/7). And pT(4) was 54% (25/46) cases with 92% (23/25) lymph node metastasis; and 5-year survival rate was 12% (3/25). The growth pattern in 87% (40/46) cases was infiltrative; and 5-year survival rate was 28% (11/40); the growth pattern in 13% (6/46) cases was expansive; and 5-year survival rate was 100% (6/6).</p><p><b>CONCLUSION</b>D(2)(+) radical total gastrectomy should be performed on the developed cardial cancer, and if necessary, resection of body and tail of pancreas should be chosen.</p>