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.
Objective To explore the relevance of serum homocysteine (Hcy) level to erythrocyte and platelet parameters in patients with unstable angina pectoris (UAP). Methods Sixty patients with UAP were collected in Tongling Municipal Hospital from August 1st, 2012 to December 31st, 2015. Serum Hcy was measured by enzymatic cycling method. Erythrocyte parameters, such as red blood cell count (RBC), hemoglobin, mean corpuscular volume (MCV), coefficient of variation of red blood cell volume distribution width (RDW-CV), and platelet parameters, such as platelet count (PLT), platelet distribution width (PDW), mean platelet volume (MPV), platelet large cell ratio (P-LCR), were measured with blood cell counter. All patients were classified into UAP with hyperhomocystinemia (HHcy) group and UAP with normal Hcy group according to the level of Hcy. The data in two groups were analyzed and the relevance of serum Hcy level to erythrocyte and platelet parameters was evaluated. Results The differences in the levels of RBC, hemoglobin, MCV, PLT, PDW, MPV, P-LCR between the two groups were not statistically significant (P>0.05); while the levels of RDW-CV and the proportion of RDW-CV above the upper reference limit of patients in the UAP with HHcy group (13.81%±1.13%, 39.4%) were higher than those in the UAP with normal Hcy group (13.06%±0.97%, 4.8%), and the differences between the two groups were statistically significant (P<0.05). Correlation analysis showed that serum Hcy level of patients with UAP was significantly correlated with RDW-CV (r=0.380, P<0.01) and was not significantly correlated with other erythrocyte and platelet parameters (P>0.05). Conclusion The high level of Hcy affects red blood cell volume heterogeneity in patients with UAP, which may be one of the mechanisms of HHcy participating in the occurrence and development of UAP.
Objective To evaluate the influence of tidal volume on the accuracy of stroke volume variation ( SVV) to predict volume state of pigs with ventilation.Methods Thirty-six healthy pigs were anesthetized after tracheal intubation and ventilated. With the envelope method, they were randomized into a normovolemia group, a hemaerrhagic shock group, and a hypervolemia group, with 12 pigs in each group. The pigs in the hemaerrhagic shock group were removed 20 percent of blood, and the pigs in the hypervolemia group received additional infusion of 20 percent 6% hydroxyethyl starch. In each group, ventilator settings were changed in a randomized order by changing VT [ VT = 5 mL/kg ( VT5 ) , VT =10 mL/kg ( VT10 ) , and VT =15 mL/kg ( VT15 ) ] . Hemodynamic measurements [ heart rate ( HR) , mean arterial boold pressure ( MAP) , systemic vascular resistance index ( SVRI) , cardiac index ( CI) , stroke volume index ( SVI) , intrathoracic blood volume index( ITBVI) , and SVV] were obtained after 10 minutes of stabilization. Results SVV was increased in the hemaerrhagic shock group comparing with the normovolemia group for VT10 [ ( 21 ±5) % vs. ( 11 ±2) % , P lt;0. 05] , but SVV was decreased in the hypervolemia group comparing with the normovolemia group [ ( 7 ±2) % vs. ( 11 ±2) % , P lt; 0. 05] . The variation tendency for VT15 was the same with VT10 , moreover SVV were all above 12% for the hemaerrhagic shock group, the normovolemia group, and the hypervolemia group [ ( 30 ±7) % , ( 19 ±3) % , and ( 15 ±4) % ] . There were no significant diffrences among the hemaerrhagic shock group, hypervolemia group and normovolemia group [ ( 8 ±6) % ,( 7 ±5) % , and ( 7 ±4) % , P gt; 0. 05] for VT5 . Conclusions SVV was a precise indicator of cardiac preload, but SVV was less sensitive to the changes of volume during low tidal volume ( 5 mL/kg) ventilation. The threshold of SVV for predicting fluid responsiveness maybe above 12% with a high tidal volume ( 15 mL/kg) ventilation.
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.
ObjectiveTo evaluates the values of fractional exhaled nitric oxide (FENO) in the treatment of chronic cough prospectively.MethodsSubjects with chronic cough were recruited from the outpatient clinic of China-Japan Friendship Hospital. All the patients accepted FENO tests, sputum cell counts, pulmonary function tests, bronchial provocation tests, serum IgE, cough symptom scores and Leicester Cough Questionnaire before and after treatment of 4 weeks.ResultsThere were 29 patients with cough variant asthma (CVA), 19 patients with eosinophilic bronchitis (EB) and 39 patients with other causes. The baseline FENO level of the subjects whose coughs were relieved after inhaled corticosteroids (ICS) therapy of 4 weeks was (63±42) ppb, significantly higher than those with bad-response [(28±13) ppb, P<0.01]. The proportion of FENO decrease after ICS therapy was not only significantly related to the proportion of eosinophilic decrease (r=0.54, P<0.01), but also significantly related to the proportion of decrease of cough symptom scores (r=0.48, P<0.01). To distinguish the good responders from bad responders, the optimal baseline FENO cutoff value was 36 ppb, with sensitivity of 82%, specificity of 93%, positive predictive value of 94%, negative predictive value of 87%, accuracy of 83%.ConclusionsThere is a good relationship between the FENO decreasing levels after ICS therapy and the reliefs of cough symptoms in the CVA and EB patients. Chronic cough patients with FENO value more than 36 ppb are indicated to respond to ICS therapy.
Objective To investigate the anatomical character and variation of non-recurrent laryngeal nerve （NRLN）， and to explore measurement to identify and prevent injury of this nerve during thyroidectomy. Methods Clinical data of 2 211 patients who underwent thyroidectomy from Jan. 2007 to Jun. 2012 in Peking Union Medical College Hospital were analyzed retrospectively， and 114 patients with NRLN of related literature reviews were analyzed too. Results There were 3 479 recurrent laryngeal nerve （2 211 cases） which were exposed during thyroid operation in Peking Union Medical College Hospital， of which 11 cases were confirmed to be right NRLN （0.32%， 11/3 479）. Of the 11 cases， 3 cases were typeⅠ， 7 cases were typeⅡA， and 1 case was typeⅡB， one case was also found to have a recurrent branch. None of them injured during operation. One hundred and fourteen cases of NRLN （0.14%-4%） were found in literature reviews. Of the 114 cases， 109 cases were confirmed to be right NRLN， of which 4 cases were typeⅠ （3.7%， 4/109）， 75 cases were typeⅡA （68.8%， 75/109）， 9 cases were typeⅡB （8.3%， 9/109）， 21 cases were unclear （19.3%， 21/109）， 3 cases were also found to have a recurrent branch （2.8%，3/109）. Five cases were confirmed to be left NRLN， of which 2 cases were typeⅡA， 3 cases were unclear， 1 case was also found to have a recurrent branch. Of all the 104 cases reported by treatises and case reports， 16 cases injured during operation， of which 1 case was typeⅠ， 9 cases were typeⅡA， 6 cases were unclear. Conclusions NRLN， which is a rare anomaly， usually happens on the right， and very vulnerable during thyroid surgery. The most usually injured type is typeⅡA. Fully acknowledgment of the NRLN and its variant types is very helpful to avoid damage during thyroid surgery.
Objective To explore anatomical features and variation of non-recurrent laryngeal nerve and to summarize identification method, operation skill, and damage treatment experience of it. Method The clinical data of 15 patients with non-recurrent laryngeal nerve in 4 054 patients who underwent thyroidectomy from our division by the same medical group from January 2006 to January 2016 were retrospectively analyzed. Results A total of 6 626 recurrent laryngeal nerve (left side 3 248, right side 3 378) were exposed in 4 054 cases. Fifteen patients with non-recurrent laryngeal nerve were detected with an incidence of 0.23% (15/6 626), all located on the right side. There were 3 males and 12 females. There were 3 cases of type Ⅰ, 10 cases of type Ⅱa, 2 cases of type Ⅱb. And 2 patients with non-recurrent laryngeal nerve were injured. Conclusions Incidence of non-recurrent laryngeal nerve is lower, most of which occur on right side of neck, there is a high injury rate for its special anatomical location. It’s key to prevent nerve injury for careful interpreting preoperative auxiliary examination results and improving awareness of non-recurrent laryngeal nerve, fining dissection, conventional exposuring recurrent laryngeal nerve, and accurate using nerve monitor during operation.
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 phenotype of children with KCNQ2 gene related epilepsy.MethodsForty epilepsy children who were detected with KCNQ2 gene variants were enrolled. Their genotype and phenotype were analyzed.ResultsThirty-six KCNQ2 variants were identified. Twenty variants were novel. Twelve patients had inherited variants, and 28 patients had de novo variants. The age of seizure onset was from one day to 9 months. 80.0% patients had their seizure onset in neonates (32/40). Multiple seizure types were observed. Focal seizure was observed in 38 patients (95.0%). Epileptic spasm was observed in 10 patients (25.0%). Myoclonic seizure was observed in 4 patients. Tonic spasm seizure was observed in 3 patients. In all patients, seizures manifested in clusters. In 28 patients with de novo KCNQ2 variants, 24 had development delay (85.7%), the other 4 patients had normal development. In 12 patients with inherited KCNQ2 variants, one had development delay, the other 11 patients had normal development (91.7%). The most common interictal EEG changes were local epilepsy discharges (31/40). The MRI of brain was abnormal in 14 patients with de novo KCNQ2 variants and developmental delay. The agenesis of corpus callosum was identified in 10 patient (25.0%). Enlargement of subarachnoid spaces in the frontal and temporal region was identified in 11 patients (27.5%). Cortial dysplasia in the bilateral frontal and temporal region was identified in 2 patients. Sulus deepening was identified in 4 patients. Enlargement of bilateral lateral ventricle was identified in 3 patients. In 40 patients with KCNQ2 variants, 3 were diagnosed as benign familial neonatal epilepsy (BFNE), 2 were diagnosed as benign familial neonatal-infantile epilepsy (BFNIE), 3 were benign familial infantile epilepsy (BFIE), 3 were benign infantile epilepsy (BIE), 5 were benign neonatal epilepsy (BNE), 3 wer Ohtahara syndrome (OS), 9 were West syndrome (WS), 12 were unclassified early infantile epileptic encephalopathy (EIEE), one was epilepsy with autism. Sodium channel blockers oxcarbazepine was the most effective among antiepileptic drugs, with a effective rate of 90.9%.ConclusionsMost KCNQ2 variants are missense variants. De novo variants are more common in patients with KCNQ2 variants. The clinical features of patients with KCNQ2 variants including that mainly with seizure onset in neonate, the main seizure type is focal seizures, seizures occur in clusters. Patients with de novo KCNQ2 variants often had developmental delay, and about half of them had frontal and temporal lobe dysplasia and agenesis of corpus callosum. Sodium channel blockers are effective agents for epilepsy patients with KCNQ2 variants.