Objective To identify and isolate the variant gene associated with gastric adenocarcinoma and clone the fragment of variant gene.Methods By arbitrarily primer polymerase chain reaction (AP-PCR), DNA samples from 5 matched gastric adenocarcinoma and non-tumor gastric tissues were analysed. Results The produced AP-PCR profiles were different in each matched gastric adenocarcinoma and non-tumor gastric tissue. One differentiated amplified DNA fragments PW2.2 from a matched gastric adenocarcinoma were cloned. The result of Southern blot hybridization with PW2.2 as a probe showing that this fragment was also found in some other gastric adenocarcinoma samples. Conclusion AP-PCR fingerprinting assay can be used to identify and clone the variant genes associated with gastric adenocarcinoma.
目的 采用干扰素和阿德福韦酯治疗慢性乙型肝炎患者经拉米夫定治疗后出现YMDD变异，比较两种治疗策略的临床疗效。 方法 选择2002年2月-年12月经100 mg拉米夫定治疗后出现YMDD变异的慢性乙型肝炎患者76例。其中，男52例，女24例；年龄18~55岁，平均年龄33岁。服用100 mg拉米夫定52～156周发生YMDD变异，HBV DNA低于治疗前水平，丙氨酸转移酶(alanine aminotransferase，ALT)lt;2×ULN/L患者分为A组(26例)，继续用100 mg拉米夫定治疗48周；服用100 mg拉米夫定52～156周发生YMDD变异，HBV DNA定量检测高于或等于治疗前水平，ALTgt;2×ULN/L，根据患者自愿分为B组(27例)和C组(23例)。B组用100 mg拉米夫定联合10 mg阿德福韦酯治疗48周；C组用干扰素治疗48周。分别观察3组ALT复常率及HBV DNA转阴率、HBeAg阳性患者血清学转换率。 结果 治疗48周时，B、C组患者ALT复常率分别是74.1%和78.3%，明显高于A组的34.6%，差异有统计学意义(Plt;0.05)；B、C组患者HBV DNA转阴率分别是77.7%和73.9%，明显高于A组的11.5%，差异有统计学意义(Plt;0.05)；3组HBeAg阳性患者血清学转换率比较，差异均无统计学意义(Pgt;0.05)。 结论 慢性乙型肝炎患者经拉米夫定治疗后出现YMDD变异，继续用拉米夫定治疗疗效不理想，改用干扰素或联合阿德福韦酯治疗更安全有效。
咳嗽是呼吸专科门诊最常见的症状之一，其中大部分又是所谓不明原因的慢性咳嗽(unexplained chronic cough)，即常规影像学检查未发现明确病变者。在此类慢性咳嗽当中，咳嗽变异型哮喘(CVA)是一重要病因，早年Irwin报道，慢性咳嗽的病因包括哮喘和气道高反应(33％)、鼻后滴漏 (28％)、慢性支气管炎(12％)、症状性胃食管反流(10％)、病毒感染后咳嗽(25％)，其他因素包括血管紧张素转换酶抑制剂(ACEI)性咳嗽、精神性咳嗽(10％)以及多因素所致的咳嗽(约占20％) J。在我国尚缺乏CVA发病率的大样本流行病学资料，最近上海同济医院进行了一项调查，在呼吸专科门诊287例由于慢性咳嗽就诊的患者当中，无论是老年人还是中青年患者，CVA均是主要的病因(老年人 34．6％ ，中青年41．5％)，其次为上气道咳嗽综合征(UACS， 19．3％和23．5％)、ACEI相关性咳嗽(16．3％ 和1．7％)、胃食管反流性疾病(GERD，10．6％ 和3．7％) 。由于呼吸科医生以至普通内科医生逐渐熟悉了解这一疾病，在门诊病人当中CVA的比重越来越大，粗略估计CVA大约占不明原因慢性咳嗽病例1／3左右，占哮喘病例1／3左右。另一方面，尽管许多临床医生知晓CVA，但涉及其诊治仍存在不少的问题。
ObjectiveTo study the contents of CD44 that shared exon variant 5 (CD44v5) in peripheral blood lymphocytes (PBL) of patients with gastric carcinoma and the expression of CD44v5 in tumor tissue and their clinical significance. MethodsThe contents of CD44v5 were determined by FlowCytometry in PBL of 31 patients with gastric carcinoma before surgery and 10 normal controls. Tissue expression of CD44v5 in 33 patients with gastric carcinoma was investigated by immunohistochemistry. ResultsThe contents of CD44v5 were significantly higher in PBL of patients with gastric carcinoma before surgery than those of controls (P＜0.01). Nodepositive gastric cancer patients showed significantly elevated contents of CD44v5 in PBL in comparison with nodenegative gastric cancer (P＜0.01）. Significant correlations were noted between the contents of CD44v5 in PBL of patients with gastric carcinoma before surgery and tumor size, depth of invasion, lymph node metastasis and different the Vnion International Centre Le Cancer (VICC) stages of tumor (P＜0.05). The expression of CD44v5 could be detected in 69.7% of tumor tissue,but was not detected in adjacent normal gastric mucosa. Significant correlations were noted between CD44v5 expression and depth of invasion,and lymph node metastasis.The presence of CD44v5 protein was correlated with the lymph node involvement rate. Conclusion CD44v5 in PBL or tumor tissue may be useful as a metastatic marker. It may be of important clinical value in the diagnosis of metastasis and judgement of development for the patients with gastric cancer.
Choroideremia (CHM) is a rare inherited eye disease that leads to blindness. It is caused by pathogenic variants in the CHM gene and exhibits X-linked recessive inheritance. Affected males present with progressively worsening night blindness, visual field loss, and decreased central vision, which can cause blindness in middle age. Although female carriers typically exhibit mild symptoms, it is essential to understand their clinical features for early diagnosis of patients as well as genetic counseling of family members. Currently, the recognition and diagnosis rates of CHM among ophthalmologists in various regions and levels of hospitals in China still need to be improved. A standardized clinical pathway is needed to meet the diagnostic and treatment needs of patients. Led by the the Chinese Hereditary Ocular Disease Diagnosis and the Treatment Group and the Chinese Hereditary Ocular Disease Alliance, based on existing evidence both domestically and internationally, the Expert consensus on diagnosis and treatment of choroideremia (2024) has been compiled, systematically and comprehensively elaborating on the standardized clinical pathways for CHM. Interpreting the key points of this consensus will help highlight its core points and ideas, enhancing the standardization and effectiveness of the diagnosis and treatment of CHM by ophthalmologists from all levels of hospitals.
Objective To investigate the changes and clinical relationship of plasma adrenomedullin( ADM) , atrial natriuretic polypeptide( ANP) , and heart rate variability( HRV) in patients with obstructive sleep apnea-hypopnea syndrome ( OSAHS) . Methods Seventy-five inpatients with OSAHS were enrolled in this study. According to the apnea hypopnea index ( AHI) by polysomnography, the subjects were divided into a mild group, a moderate group, and a severe group. Meanwhile, HRV was screened bydynamic electrocardiogram in sleep laboratory. HRV parameters were obtained including LF ( low frequency power) , HF( high frequency power) , pNN50( percentage of NN50 in the total number of N-N intervals) ,SDNN( standard deviation of the N-N intervals) , rMSSD( square root of the mean squared differences of successive N-N intervals ) . Plasma levels of ADM/ANP were measured by radioimmunoassay. Results The levels of SDNN ( P lt;0. 05) , rMSSD, pNN50, LF ( P lt; 0. 05) and HF were gradually reduced, and the levels of ADM ( P lt;0. 05) and ANP ( P lt; 0. 05) were increased with increasing severity of OSAHS. Linear correlation analysis demonstrated that SDNN was negatively correlated with ADM( r = - 0. 423, P lt;0. 05)and ANP( r = - 0. 452, P lt; 0. 05) , and LF was also negatively correlated with ADM( r = - 0. 348, P lt;0. 05) . Conclusion Lower HRV is associated with more sever OSAHS, and it may be modulated neurohumorally by ADM and ANP.
Thumb and finger reconstruction by the method of pedal digit transplantation had been successfully performed in 541 casee from 1977 to 1996, which contained 404 cases of thumbs and 78 cases of fingers. The thumb reconstruction was mainly the simple transplantation of distal phalanx (42 cases) and the compound transplantation of hallucal nail-cutaneous flap with iliac bone segment (16 cases) for the defect of thumbs in degree 1 and 2. The combined transplantation of hallucal nail-cutaneous flap with the joint and tendons of the second toe (34 cases) and the transplantation of the distal part of the second toe (182 cases) for the defect of degree 3 and 4. The combined transplantation of the second pedal digit with its metatarsalphalangeal joint (189 caese) for the defect in degree 5 and 6. The finger reconstruction was performed by anastomosis of the arteries of the digit with those of the fingers for 29 cases with the defect in degree 2 and 3, 60 cases with the defect in degree 4 and 5, and 17 cases with the defect in degree 6. One-hundred and four cases of versels vasiation were found in this group (19 cases with the pedal dorsal artery, 13 cases with the greater saphenous vein and 72 cases with the first dorsal metatarsal artery). The main point of the operation and the treatment of the vessel variations were discussed.