Volume 92  ·   Issue 40  ·  2012

Helicobacter pylori (Hp for short) has been living in human body since the Stone Age. In the long history of 58,000 years, many organisms have been extinct, and Hp is still safely living in more than half of the global population. It is very difficult to eradicate it from human body. The Nobel Prize in 2005 revealed that many gastrointestinal diseases are caused by Hp infection, which is a major event in medical history.

Mitochondria is one of the important organelles in cells and the energy metabolism center of eukaryotic cells. Mutations of mitochondrial genes [mitochondrial DNA (mtDNA)] characterized by maternal inheritance often lead to or are related to hearing impairment. Although mtDNA inheritance accounts for only 1% of human genetic information, the current epidemiological studies show that the incidence of hearing impairment associated with mtDNA mutation is far more than this proportion.

Objective To report the clinical features of mitochondrial disease caused by mitochondrial DNA (mtDNA) A8344G point mutation.Methods We analyzed the clinical presentations and muscular pathological changes in 10 patients with genetically confirmed mtDNA A8344G point mutation.Results Among them,6 patients presented as juvenile-onset myoclonic epilepsy with ragged red fibers (MERRF) syndrome,2 suffered infant-onset Leigh syndrome and the remaining 2 were diagnosed as limbgirdle mitochondrial myopathy.The mtDNA A8344G mutation load from muscle samples showed that patients with Leigh syndrome ＞ MERRF syndrome ＞ mitochondrial myopathy (87.2％,88.4％ ＞ 69.0％-86.8％ ＞67.2％,58.4％).Conclusions Mitochondrial disease caused by A8344G point mutation shows a great heterogeneity.The mutation load of muscle mtDNA might be associated with the severity of clinical phenotype,the higher mutation load,the more severe clinical presentations.

Objective To summarize the clinical audiologic features of patients with mitochondrial DNA (mtDNA) A3243G mutation and explore the lesion location of heating loss so as to examine its correlation with the related syndrome.Methods A total of 44 patients with mtDNA A3243G mutation from 2009-2011 were studied.Audiological evaluations consisted of measurements of pure-tone and speech audiometry,tympanometry,distortion-product otoacoustic emissions and auditory brainstem response.We investigated a possible correlation between the degree of hearing loss and gender,age and mutation rate.Results (1) Pure tone test was performed in 41 patients and showed normal hearing or symmetrical sensorineural heating loss.Pure tone audiogram (PTA) showed high-frequency loss and descending curve in a majority of patients.There were 75 ears with hearing loss in 82 ears (91.46％),22 ears with abnormal speech audiometry in 26 ears,77 ears with abnormal distortion product otoacoustic emissions (DPOAE)testing in 86 ears,including 5 ears with normal PTA,31 ears with abnormal electrocochleography in 75 ears,25 ears with abnormal auditory brainstem response (ABR) in 82 ears.The abnormal ABR showed elevated threshold in 10 ears,delayed interpeak latencies of wave Ⅰ-Ⅴ in 2 ears and disappearance of wave Ⅴ before wave Ⅰ in 1 ear.In addition,there were 2 ears with speech audiometry abnormal but with normal ABR.(2) The correlation between the severity of hearing and gender did not reach statistical significance,nor the severity of hearing and mutation ratio.Age could influence the heating of A3243G-induced MELAS.Conclusions The predominant lesions of mtDNA A3243G is at cochlea and retrocochlear sites.Significant variations in clinical manifestation of heating are the prominent features in patient with A3243G mutation.There was no correlation between the degree of heating loss and mutation load.However,hearing impairment is the most common symptom of A3243G mutation.

Objective To explore the application of multiplex ligation-dependent probe amplification (MLPA) in the gene diagnosis of X-linked Alport syndrome (XLAS).Methods MLPA was used to detect and confirm large deletion mutations in COL4A5 gene in 3 XLAS patients with deletion mutation from cDNA.Results Patient 1 had a deletion from exons 22 to 24 in COL4A5 gene,patient 2 a deletion of exon 30 in COL4A5 gene and patient 3 a deletion of exons 1 and 2 in COL4A5 gene and exons 1 and 2 in COL4A6 gene.All these mutations were detected by reverse transcription-polymerase chain reaction (RT-PCR) and MLPA coincidently.Conclusion As a new method for gene diagnosis of XLAS,MLPA can be used to detect large deletion mutations in COL4A5 gene.

Objective To explore the clinical features and gene mutation of a Chinese family with Bethlem myopathy in three generations.Methods The clinical data of proband and his family members was collected.Genomic DNA from the patient and his family members was extracted routinely from peripheral blood leukocytes.Polymerase chain reaction and DNA direct sequencing were employed to analyze COL6A1,A2 and A3 genes to determine the mutation.And the relationship between genotype and phenotype was analyzed.Furthermore,the patient's skin fibroblast was cultured and immunofluorescent staining was performed with anti-collagen Ⅵ antibody.And the expression pattern of type Ⅵ collagen in extracellular matrix between the control and the patient's fibroblast was compared.Results In this family,9 patients conformed to the clinical diagnosis of Bethlem myopathy.The features included motor development delay after late infantile period,generalized muscle weakness,walking unstability,distal hyperlaxity,proximal joint contractures,skin changes (including hypertrophic scars) and normal intellectual developnent.Serum creatine kinase (CK) level became mildly elevated and electromyography showed myogenic injury.Disease progressed slowly but the lifespan was not affected.Mutation in exon 2 of COL6A1 gene with c.111-129 deletion was detected in 7 patients in this family.Immunofluorescent staining of type Ⅵ collagen in cultured skin fibroblast showed reduced expression of collagen Ⅵ in extracellular matrix in the patient compared with the control.Conclusions Our study has defined the clinical features of Bethlem myopathy.According to molecular genetic analysis,7 patients in this family have in-frame deletion mutations of COL6A1 and they conform to autosomal dominant inheritance.And genetic counseling and prenatal diagnosis are available.This is the first Chinese report of Bethlem myopathy family.

Objective To provide scientific rationales through an analysis of the relationship between skin carotenoid level and metabolic syndrome related indices so as to prevent the occurrences of metabolic syndrome (MS).Methods A total of 493 cases from December 2010 to December 2011 were recruited to measure the skin carotenoid levels and various laboratory indices of metabolic syndrome.Results Along with the rising risk factors of MS,the skin carotenoid level declined.And there were significant differences between the normal group(n =103),low risk group(n =63),high risk group (n =172)and the MS group(n =155) (40 407 ± 10 961,28 396 ±8683,28 523 ± 8887,23 303 ± 8887,F =72.704,P ＜0.01).Gender and skin carotenoid level had an obvious correlation.Males were significantly lower in females (P ＜0.01).There was no correlation of age and skin carotenoid level (P ＞0.05).Conclusions Skin carotenoid level and metabolic syndrome have a negative correlation.Measurement of skin carotenoid level plays a certain role in the prevention of metabolic syndrome.

Objective To observe the clinical efficacies and costs of negative pressure wound therapy (NPWT) and basic fibroblast growth factor (bFGF) in the treatment of stage Ⅲ or Ⅳ pressure ulcer (PU).Methods From July 2008 to December 2011,48 patients fulfilling the study inclusion or exclusion criteria at Weihai Municipal Hospital were divided randomly into experiment and control groups (n =24 each).On the basis of routine treatment and NPWT of each inpatient,the patients in the experiment group were treated with bFGF.The changes of healing rate of PU were measured at Days 7 and 14 post-treatment in each group.Meanwhile,the granulation duration,preoperative time and total preoperative cost were compared.Results The granulation duration,healing rate of Days 7 and 14,preoperative time and total preoperative cost in the experiment group was (10.8 ± 2.7) days,10.1％ ± 2.9％,22.3％ ± 3.1％,(18.2±2.6) days and (7946±245) yuan RMB versus (16.3±3.9) days,6.9％ ±1.9％,13.4％ ± 2.8％,(27.1 ± 3.3) days and (10 951 ± 285) yuan RMB in the control group respectively.The differences between two groups were statistically significant (all P ＜ 0.01).Conclusion As a preoperative therapeutic modality of intractable PU,NPWT and bFGF offer better therapeutic efficacies and lower therapeutic costs as compared with NPWT alone.

Objective To compare the perioperative outcomes of minimally invasive versus conventional aortic valve replacement.Methods Between June 2010 and January 2012,39 patients underwent isolated aortic valve replacement (minimally invasive:n =24,conventional:n =15) at our department.Gender,age,New York Heart Association class,valvular size,valvular type,cardiopulmonary bypass duration,aortic cross-clamping duration,total operative duration (skin incision to skin suture),ventilation time,intensive care unit stay,blood loss volume,blood transfusion volume,left ventricle ejection fraction,perioperative complications,length of incision,hospital stay and hospital costs were used.Results There was no case of death or reoperation for bleeding.No statistically significant differences existed between both groups with respect to perioperative course (both P ＞ 0.05).Only cardiopulmonary bypass duration and aortic cross-clamping duration were significantly longer in the minimally invasive group while blood transfusion rate (9/24 vs 12/15,P =0.028) and length of incision ((4.9 ± 0.7) cm vs (28.5 ± 4.7) cm,P =0.000) were significantly lower in the minimally invasive group.Conclusion As a safe and reproducible procedure,minimally invasive aortic operation may require a smaller incision and achieve better cosmetic outcomes with a lesser volume of blood transfusion.

Objective To review the experience of surgical treatment of cardiac echinococcosis.Methods Twenty-five patients with cardiac echinococcosis,including 15 males and 10 females with a mean age of (29 ±8) years,undergoing surgical treatment from February 1978 to September 2011 were retrospectively summarized.Results There were myocardial echinococcosis (n =16),pericardial echinococcosis (n =7),myocardial and pericardial echinococcosis (n =2).The surgical procedures included complete resection of hydatid cysts,cystectomy with needle aspiration and complete removal of endocyst.There was no intraoperative mortality.Twenty-one patients were followed up for 5-168 months.Four patients recurred and 1 died from heart failure at 10 months postoperation.Conclusion The preferred treatment of cardiac hydatid cyst is surgical resection.And a selection of proper technique is of great importance for excising hydatid cyst and preventing recurrence.

Objective To explore the roles of interleukin (IL)-10 differentiated peripheral blood monocyte-derived dendritic cell (DC-10) of allergic asthma patients in T-lymphocytes proliferation in vitro.Methods From January to June 2011,10 subjects with dust mite allergic asthma treated at Third Affiliated Hospital of Soochow University were enrolled.Their peripheral blood monocytes were isolated by FicollHypaque solution density gradient centrifugation and adherent method.And the adherent monocytes were routinely cultured with granulocyte-macrophage colony-stimulating factor (GM-CSF) + interleukin-4 (IL-4) + tumor necrosis factor-alpha (TNF-α),stimulated with/without interleukin-10 (IL-10),pulsed with dust mite allergen and finally harvested.The cell surface molecules including CD80,CD83,CD86,human leukocyte antigen (HLA)-DR and immunoglobulin-like transcript 2 (ILT2) were detected by immunofluorescent labeling and flow cytometry.And cellular functions were estimated by detecting the capacities of DC uptake antigens with fluorescein isothiocyanate (FITC)-dextran capturing assay.The IL-10differentiation DC (DC-10) were cultured with autologous peripheral T cells (DC-10 group),either alone (DC-TNF group) or together (combined group) with autologous immunostimulatory DC (DC-TNF).And the impact of this treatment on T-cell responses was assessed for each donor by 3-(4,5)-dimethylthiahiazo (-z-y1)-3,5-di-phenytetrazoliumromide (MTT) assay.The production of interferon-γ (IFN-γ),IL-4,interleukin-5 (IL-5) and interleukin-13 (IL-13) were measured with the quantification of enzyme linked immunosorbent assay (ELISA) kits.Results In DC-10,the levels of some mature DC's markers (CD80,CD83,CD86 & HLA-DR) decreased,ILT2 increased and there were the higher capacities of up-taking FITC-dextran particle (72.32％ ±2.93％ vs 54.41％ ± 2.95％,P ＜ 0.01).Compared with the DC-TNF group (1.74 ± 0.15),the T cell proliferation of the DC-10 group (1.06 ± 0.18) and that of the combined group (1.34±0.16) were significantly inhibited (P ＜0.01).The secretion levels of IFN-γ,IL-4,IL-5 and IL-10 were (2998 ± 141),(157 ± 17),(2608 ± 254) and (55 ± 11) ng/L in the DC-10 group versus (3223 ±203),(149 ± 19),(2465 ± 183) and (88 ± 10) ng/L respectively in the combined group.They were all significantly reduced versus (3639 ±209),(173 ± 16),(2771 ± 183) and (127 ± 11) ng/L in the DC-TNF group (all P ＜ 0.01).Conclusions The IL-10-treated human DC may express a tolerogenic phenotype and induce the allergen tolerance of T cells.And the induction of DC-10 represents a promising target for therapeutic intervention of effectively managing the clinical outcomes of allergic asthma.

Objective To explore the effects of cefoperazone-sulbactam (C/S) plus minocycline on extensively drug resistant Acinetobacter baumannii (XDRAB) infections in critically ill patients.Methods For this prospective and single-center trial,a total of 101 patients with infection due to XDRAB received the primary therapy of C/S plus minocycline.Combined use of imipenem-cilastatin was considered when primary therapy failed.Results Among them,77 patients were evaluated.There were 49 males and 28 females with a mean age of (69 ± 20) years.The Acute Physiology and Chronic Health Evaluation (APACHE) Ⅱ score was 15 ± 5.Among whom 61 had hospital-acquired pneumonia (n =61),primary bacteremia (n =5),intra-abdominal infection (n =3),skin and soft tissue infection (SSTI) (n =2) and multiple sites infection (n =6).Twenty-three patients had mixed bacterial infections.Combined use of imipenemcilastatin therapy was administered in 7 patients.The treatment duration was (16 ± 4) days.The outcomes were cure (n =21),marked improvement (n =27),improvement (n =26) and ineffectiveness (n =3).The overall effective rate was 62.3％ (48/77)and the microbiological clearance rate 46.8％ (36/77).The independent factors of decreased efficacy were underlying co-morbidity of impaired ability for infection control (OR =5.3,P =0.020),prolonged infection (OR =3.8,P =0.029),co-infecting organism (OR =3.5,P =0.032) and septic shock (OR =2.5,P =0.037).Conclusions The combined regimen of C/S and minocycline is efficacious in the treatment of infections caused by XDRAB.But it has a lower rate of microbiological eradication.

Objective To explore the value of serum advanced glycation end products-peptide (AGE-P) in the screening of diabetes mellitus in a community-based population of high-risk diabetics.Methods A total number of 857 adult high-risk diabetics from a community-based population underwent 75 g oral glucose tolerance test (OGTF).Blood samples were drawn to measure the levels of fasting blood glucose (FBG),postprandial blood glucose (2 hPG) and glycosylated hemoglobin A1c (HbA1c).And blood samples were also collected to determine the serum level of AGE-P with the technique of flow injection analysis.Receiver operating characteristic (ROC) curve was plotted to assess the screening value of serum AGE-P in diabetes mellitus.Pearson correlation analysis was conducted to evaluate the association between serum AGE-P and FBG,2 hPG,HbA1c,body mass index (BMI),waist-to-hip ratio (WHR) and age.Results Among them,218 adults were diagnosed with diabetes based on the 2010 American Diabetes Association (ADA) criteria.According to the ROC curve,the optimal cut-point of serum AGE-P for diagnosing diabetes was 10.22 mg/L (a peak height of 25.39 mm) with sensitivity of 84.1％,specificity of 88.3％ and positive predictive value of 71％.The area under curve (AUC) of serum AGE-P,FBG,2 hPG and HbA1c for diagnosing diabetes was 0.924,0.905,0.951 and 0.874 respectively.When comparing AUC between serum AGE-P and HbA1c,FBG and 2 hPG,statistical significance was only found in the comparisons between serum AGE-P and HbA1c (P ＜ 0.025).Pearson correlation analysis showed that serum AGE-P was highly positively correlated with HbA1c,significantly positively correlated with FBG and 2 hPG and slightly positively correlated with WHR and age (all P ＜ 0.05).But there was no correlation with BMI.Conclusions Serum AGE-P may be used for the screening of diabetes in the community-based population of high-risk diabetics.And it is even superior to HbA1c.

Objective To explore the clinical characteristics and the diagnostic method of maple syrup urine disease (MSUD).Methods From January 2003 to December 2011,a total of 14 000 patients with suspected inherited metabolism diseases were tested.The blood levels of leucine and valine of these patients were detected by tandem mass spectrometry.The urinary level of branched-chain α-ketoacids was tested by gas chromatography-mass spectrometry.And the diagnosis was based on the elevated levels of leucine and valine in blood and branched-chain α-ketoacids in urine.Results Thirty-three MSUD patients were confirmed.Their median age of initial visit was 0.17 years old (range:7 days to 30 years old).The peak onset age of them was 2-30 days old,including 28 cases of neonatal onset (84.8％).The presenting symptoms of 28 cases were feeding difficulties (n =14),poor response,lethargy and seizures.Their median blood levels of leusine and valine (1901 (458-5804) and 600 (315-1617) μmol/L) were significantly higher than their normal levels ((50-300) and (60-250) μmol/L,both P ＜ 0.01).Their urinary levels of 2-OH-isovalericacid,2-keto-isovalericacid,2-keto-3-methylvalericacid,2-keto-isocaproic and acetylglycine (262.5 (5.4-624.3),35.8 (1.9-156.0),133.8 (7.4-611.5),518.7 (17.2-2121.2)and 280.5 (11.0-1087.9) respectively) significantly higher than their normal levels (0,＜ 0.1,0,0,＜0.1 respectively,all P ＜ 0.01).In 5 intermittent MSUD patients,their blood levels of leucine and valine (402 (348-958) and 556 (322-808) μmol/L) were significantly higher than their normal levels (both P ＜ 0.01).The urinary level of 2-OH-isovalericacid was significantly higher than its normal levels (P ＜ 0.01) while the urinary levels of other α-ketoacids were normal.Conclusions The confirmation of MSUD remains difficult because of a lack of specific clinical features.The detections of tandem mass spectrometry and gas chromatography-mass spectrometry may aid its early diagnosis.

Objective To explore the effects of renal sympathetic denervation on inducibility of atrial fibrillation (AF) during rapid atrial pacing.Methods Thirteen dogs were selected and divided into control group (n =7) and renal artery ablation group (RAA) (n =6).In the control group,the animals were subjected to atrial pacing at 800 beats/min for 7 hours.And atrial effective refractory period (AERP)and induced AF were measured hourly during non-pacing.In the RAA group,after each renal artery ablation,the procedures of pacing and electrophysiological measurement were nearly the same as those in the control group.Blood was collected before and after pacing to measure the levels of rennin,angiotensin Ang Ⅱ (Ang Ⅱ) and aldosterone.Results There was a persistent decrease in AERP in both groups.However,after a 7-hour pacing,induced number of times and duration of AF were higher in the control group than those in the RAA group.The plasma concentrations of rennin and aldosterone increased significantly after 7-hour rapid pacing in the control group (rennin:(120 ± 31) to (185 ± 104) pg/ml,P ＜0.01,aldosterone:(288 ± 43) to (370 ± 110) pg/ml,P =0.01).No significant difference existed in the levels of Ang Ⅱ at pre-and post-pacing in the control group ((160 ± 48) to (189 ± 164) pg/ml,P =0.23).The levels of rennin and aldosterone showed a decreasing trend in the RAA group.But there was no statistical significance.Conclusions Episodes of AF during short-time rapid atrial pacing may be decreased by renal sympathetic denervation.This effect is probably related with the decreased activity of RAAS.

codeine (codeine) is an opioid drug, which is commonly used to relieve pain and cough in clinic. Its pharmacological effect is similar to that of morphine, but it is weak, and it can also cause tolerance and addiction after long-term use. On August 15, 2012, the US Food and Drug Administration (FDA) issued an adverse reaction notice to children taking codeine (http:∥www.fda.gov/Drugs/DrugSafety/ucm313631.htm).

The patient was a 65-year-old male who was admitted to Nanjing General Hospital of Nanjing Military Region on March 14, 2012 due to right lower abdominal pain accompanied by diarrhea for 3 weeks. Three weeks ago, the patient had intermittent dull pain in right lower abdomen accompanied by diarrhea without obvious trigger, 3 to 4 times a day, with moderate amount and paste, no pus, blood and mucus. There were no complaints of discomfort such as fever, headache, dizziness, nausea and vomiting. Without special treatment, the patient's right lower abdominal pain gradually worsened, accompanied by abdominal distension, and the frequency of defecation decreased.

With the development of interventional pulmonology, interventional therapy has become more and more widely used in the treatment of lung cancer because of its small invasiveness and high specificity. Photodynamic therapy refers to a new interventional therapy that injects photosensitizer selectively gathered in the lesion into the human body, and then uses excitation light of certain wavelength to stimulate photochemical reaction to treat the disease [1]. It plays an increasingly important role in the treatment of various natural cavity malignant tumors (such as lung cancer, esophageal cancer and urogenital tract tumors). In 1982, Hayata et al. [2] reported that photodynamic therapy was used under bronchoscope to treat a patient with central lung cancer who was not suitable for surgery due to poor cardiopulmonary function, and the treatment of intracavity tumor was started with photodynamic therapy.

General medicine is a clinical medicine discipline which integrates biomedicine, clinical medicine, behavioral science and social science on the basis of general medical practice, which is different from the values and methodology of specialty medicine; It is a secondary subject of clinical medicine with wide knowledge coverage and wide service objects. It is the concrete manifestation of bio-psychological-social medical model. Different from the "treatment" of specialty, the goal of general medicine is to "maintain human health" [1-2].

On the occasion of the 30th anniversary of the discovery of Helicobacter pylori (Hp), the 7th National Clinical Forum on Diagnosis and Treatment of Hp Infection and Digestive Diseases was held in Beijing from August 24 to 26, 2012. The conference was sponsored by Beijing Branch of Chinese Medical Association, and Professor Hu Fulian of Peking University First Hospital was the chairman of the conference. Nearly 1,000 delegates from all over the country participated in the conference.

Renal leiomyoma is rare in clinic, and only a case report at home and abroad [1-2], while epithelioid leiomyoma originating from the kidney is even rarer, and only one case has been reported in China [3]. The data of two patients admitted to our hospital are reported as follows. A 48-year-old female was found to have a space-occupying lesion in her right kidney during physical examination on September 4, 2010 and went to Shaoxing People's Hospital. She was in good health before, without frequent urination, urgency, painful urination and macroscopic hematuria. No obvious abnormalities were found in physical examination and laboratory examination. Abdominal B-ultrasound showed that a hypoechoic and clearly bounded substantial space-occupying lesion was found in the middle and lower part of the right kidney.

A 60-year-old female was admitted to the hospital on March 7, 2012 because she accidentally discovered a mass in her left inguine for 3 months. The patient accidentally discovered a mass in her left inguine the size of a faba bean 3 months ago, and it gradually increased with discomfort. The patient was in good health, denied a history of heart, liver, kidney and other diseases, and had no history of surgery or trauma. Physical examination: good development and nutrition, no swelling of cervical lymph nodes, abnormalities at the end of heart, lung, liver and spleen. The swollen lymph nodes can be palpable in the left inguinal area, moving, and no tenderness. B-ultrasound exploration of the left inguine showed multiple hypoechoic masses, the larger one was about 16 mm ×14 mm, with clear boundaries and blood flow signals, which were considered as swollen lymph nodes (Figure 1).