2010年 · 第123卷第13期

The great variability in the processes that different journals use to ask about and report authors' potential conflicts of interest creates confusion for authors, readers, and the public. To help lessen this confusion, the International Committee of Medical Journal Editors (ICMJE) developed an electronic uniform disclosure form and placed it in the public domain in October 2009。

Abstract：Background The basic helix-loop-helix transcription factor HAND2 plays an essential role in cardiac morphogenesis.However, the prevalence of HAND2 mutations in congenial heart disease (CHD) and the correlation between the HAND2 genotype and CHD phenotype have not been studied extensively. Methods We amplified the exons and the flanking intron sequences of the HAND2 gene in 131 patients diagnosed with congenital defects of the right ventricle, outflow tract, aortic artery or cardiac cushion and confirmed the mutations by sequencing.Results Seven mutations including three missense mutations (P11R, S36N and V83L), one isonymous mutation (H14H)and three mutations in untranslated region (241 A>G, 604C>T and 3237T>A) were identified in 12 out of the 131 patients.Both nonisonymous mutations are located in the transcriptional activation domain on the N-terminus. Only one mutation (S36N) was identified in 250 normal healthy controls. The distribution of 3637T>A is the unique one which was differentbetween the 2 groups.Conclusions HAND2 may be a potential candidate gene of stenosis of the right ventricle, outflow tract. Further study of those with a family history of HAND2 mutations will help convincingly relate their genotype to the pathogenesis of CHD。

Abstract：Background Our previous studies have shown that both apoptosis and necrosis are involved in hair cell (HC) pathogenesis in aging cochleae. To better understand the biological mechanisms responsible for the regulation of HC death, we examined the activity of succinate dehydrogenase (SDH), a mitochondrial bioenergetic enzyme, in the HCs of aging cochleae.Methods The auditory brainstem response thresholds elicited by tone bursts at 4, 10 and 20 kHz were measured in both young (2-3 months) and aging (22-23 months) Wistar rats. SDH activity was evaluated with a colorimetric assay using nitroblue tetrazolium monosodium salt. The SDH-labeled organs of Corti were double stained with propidium iodide, a DNA intercalating fluorescent probe for illustration of HC nuclei. All the specimens were examined with fluorescence microscopy and confocal microscopy.Results Aging rats exhibited a significant elevation of ABR thresholds with threshold shifts being 34 dB at 20 kHz, 28 dB at 10 kHz, and 25 dB at 4 kHz. Consistent with the reduction in the cochlear function, aging cochleae exhibited the reduction of SDH staining intensity in the apical and the basal ends of the cochleae, where a large number of apoptotic, necrotic, and missing HCs were evident. The reduction in SDH staining appeared in a cell-death-mode dependent fashion. Specifically, SDH labeling remained in apoptotic HCs. In contrast, SDH staining was markedly reduced or absent in necrotic HCs.Conclusions In the aging cochlea, SDH activity is preserved in HCs undergoing apoptosis, but is substantially reduced in necrosis. These results suggest that mitochondrial energetic function is involved in the regulation of cell death pathways in the pathogenesis of aging cochleae。

Abstract：Background Hemoconcentration may be an important factor that determines the progression of severe acute pancreatitis (SAP). In addition, it has been proposed that biomarkers may be useful in predicting subsequent necrosis in SAP. However, it is still uncertain whether hemodilution in a short term can improve outcome. We aimed to investigate the effect of rapid hemodilution on the outcome of patients with SAP.Methods One hundred and fifteen patients were admitted prospectively according to the criteria within 24 hours of SAP onset. Patients were randomly assigned to either rapid hemodilution (hematocrit (HCT) <35%, n=56) or slow hemodilution (HCT 235%, n=59) within 48 hours of onset. Balthazar CT scores were calculated on admission, day 7, and day 14, after onset of the disease. Time interval for sepsis presented, incidence of sepsis within 28 days and in-hospital survival rate were determined.Results The amount of fluid used in rapid hemodilution was significantly more than that used in slow hemodilution (P <0.05) on the admission day, the first day, and the second day. There were significant differences between the rapid and slow hemodilution group in terms of hematocrit, oxygenation index, pH values, APACHE II scores and organ dysfunction at different time during the first week. There were significant differences in the time interval to sepsis in rapid hemodilution ((7.4 1.9) days) compared with the slow hemodilution group ((10.2 2.3) days), and the incidence of sepsis (78.6%) was higher in the rapid group compared to the slow (57.6%) in the first 28 days. The survival rate of the slow hemodilution group (84.7%) was better than the rapid hemodilution (66.1%. P<0.05).Conclusions Rapid hemodilution can increase the incidence of sepsis within 28 days and in-hospital mortality. Hematocrit should be maintained between 30%-40% in the acute response stage。

Abstract：Background Cardiac resynchronization therapy (CRT) is an effective electrical therapy for patients with moderate to severe heart failure and cardiac dyssynchrony. This study aimed to investigate the degree of acute left ventricular (LV)resynchronization with biventricular pacing (BVP) at different LV sites and to examine the feasibility of performing transthoracic echocardiography (TTE) to quantify acute LV resynchronization during CRT procedure.Methods Fourteen patients with NYHA Class ⅢⅣ heart failure, LV ejection fraction ≤35%, QRS duration ≥120 ms and septal-lateral delay (SLD) ≥60 ms on tissue Doppler imaging (TDI), underwent CRT implant. TDI was obtained from three apical views during BVP at each accessible LV site and SLD during BVP was derived. Synchronicity gain index (Sg) by SLD was defined as (1+(SLD at baseline - SLD at BVP)/SLD at baseline).Results Seventy-two sites were studied. Positive resynchronization (R+, Sg>1) was found in 42 (58%) sites. R+ was more likely in posterior or lateral than anterior LV sites (66% vs. 36%, P <0.001). Concordance of empirical LV lead implantation sites and sites with R+ was 50% (7/14).Conclusions The degree of acute LV resynchronization by BVP depends on LV lead location and empirical implantation of LV lead results in only 50% concordance with R+. Performing TTE during CRT implantation is feasible to identify LV sites with positive resynchronization。

Abstract：Background Evidence suggests that systemic inflammation may play an important role in the progression and morbidity of chronic obstructive pulmonary disease. It remains controversial whether inhaled corticosteroid in combination with a long-acting β2-adrenoceptor agonist can attenuate systemic inflammation. We evaluated the effect of salmeterol/fluticasone propionate on circulating C-reactive protein level in stable chronic obstructive pulmonary disease patients.Methods An open-label clinical trial was conducted to recruit 122 outpatients with stable moderate-to-severe chronic obstructive pulmonary disease from department of respiratory medicine in two teaching hospitals between June 2007 and March 2008. Patients were randomized into two groups (1:1) to receive either the combination of 50 ug salmeterol and 500 ug fluticasone twice daily (n=61), or the combination of 206 ug albuterol and 36 ug ipratropium q.i.d (n=61) over 6 months. Circulating C-reactive protein concentrations were measured before randomization and during the follow-up. The efficacy of treatment was also assessed by spirometry, as well as health status and dyspnea score at baseline and after 6-month treatment.Results Baseline characteristics of two groups were similar. Compared with ipratropium/albuterol, the combination of salmeterol/fluticasone significantly reduced circulating level of C-reactive protein (-1.73 vs. 0.08 mg/L, respectively, P <0.05) after 6-month treatment. Forced expiratory volume in one second (FEV1) and health status also improved significantly in salmeterol/fluticasone group compared with ipratropium/albuterol. Salmeterol/fluticasone treatment subjects who had a decrease of circulating C-reactive protein level had a significant improvement in FEV1 and St George's Respiratory Questionnaire total scores compared with those who did not (185 vs. 83 ml and -5.71 vs. -1.79 units, respectively, both P<0.01).Conclusion Salmeterol/fluticasone treatment reduced circulating C-reactive protein concentration in clinically stable moderate-to-severe chronic obstructive pulmonary disease patients after 6-month treatment。

Abstract：Background Cushing's disease is a pituitary-dependent type of Cushing's syndrome. Treatment consists of pituitary surgery or radiotherapy, but the recurrence rate at 10 years is as high as 40%. Adrenalectomy is considered an effective treatment to refractory Cushing's disease. The objective of this study was to examine the efficacy of laparoscopic adrenalectomy and open adrenalectomy in Cushing's disease, focusing on reversing the sequelae of hypercortisolism and improving patients' quality of life.Methods Forty-three patients (29 women, 14 men) with recurrent Cushing's disease after transsphenoidal operation underwent laparoscopic (n=32) or open (n=11) adrenalectomy from 2000 to 2008. Surgical results were evaluated for all the 43 patients. Patients completed a follow-up survey, including the short-form 36-item (SF-36) health survey. Results All the 43 patients achieved clinical reversal of hypercortisolism after adrenalectomy. Time to symptom resolution varied from a few weeks to up to 3 years. Most physical changes had resolved by a mean of 8 months after surgery. These conditions were not significantly different between the laparoscopy and open groups. Median length of hospital stay was shorter in the laparoscopy group (4 vs. 9 days; P<0.001). Median follow-up was 48.5 months. Of the 34 (79%) patients available for follow-up, 22 (65%) had adrenocorticotropic hormone levels >200 ng/ml and 6 (27%) had clinical Nelson syndrome. Four patients died by 75 months after surgery. Using SF-36, 30 (88%) patients reported they felt their health status was good to excellent compared with 1 year before adrenalectomy; however, they showed significantly lower scores in all the 8 SF-36 parameters compared with the general population. No significant difference emerged in SF-36 scores between the laparoscopy and open groups.Conclusions Adrenalectomy showed high survival and clinical benefits in recurrent Cushing's disease patients. Despite patient-reported improvement in health after adrenalectomy, patients continue to experience poor health status compared with the general population。

Abstract：Background Wolf-Hirschhorn syndrome (WHS) results from the partial deletion of 4p. This study aimed to identify and fine map the chromosome deletion regions of Chinese children with Wolf-Hirschhorn syndrome among the developmental delay/mental retardation (DD/MR) patients.Methods We analyzed the relationship of phenotype and genotype. Inclusion criteria were: moderate to severe DD/MR, no definite perinatal brain injury, and no trauma, toxication, hypoxia, infection of central nervous system; routine karyotyping was normal, no evidence of typical inherited metabolic disorder or specific neurodegenerative disorders from cranial neuro-imaging and blood/urinary metabolic diseases screening; no mutation of FMR1 in male patients, no typical clinical manifestation of Rett syndrome in female patients. Multiplex ligation-dependent probe amplification (MLPA) and Affymetrix genome-wide human SNP array 6.0 assays were applied to accurately define the exact size of subtelomeric aberration region of four WHS patients.Results All four WHS patients presented with severe DD, hypotonia and microcephaly, failure to thrive, 3/4 patients with typical facial features and seizures, 2/4 patients with congenital heart defects and cleft lip/palate, 1/4 patients with other malformations. The length of the deletions ranged from 3.3 Mb to 9.8 Mb. Two of four patients had "classic" WHS, 1/4 patients had "mild"-to-"classic" WHS, and 1/4 patients had "mild" WHS.Conclusions WHS patients in China appear to be consistent with those previously reported. The prevalence of signs and symptoms, distribution of cases between "mild" and "classic" WHS, and the correlation between length of deletion and severity of disease of these patients were all similar to those of the patients from other populations。

Abstract：Background Falls are the most frequently reported adverse events in inpatient settings. We conducted a retrospective case-control study of inpatient falls within aged care wards in a tertiary hospital to investigate the associated characteristics of elderly patients suffering from falls and fall-related characteristics.Methods Consecutive retrospective cross-sectional design spanned July 2006 to December 2008. Patient group: Information on all aged care inpatients who suffered from 1 or more falls was extracted from Incident information Management System (IIMS). Further details about the particular admission(s) were obtained from patients' medical records, e.g., patients' characteristics and circumstances surrounding the falls. Randomly selected aged care patients who did not suffer from a fall and who were discharged from the hospital in the same period served control group. Characteristics among patients with single fall and recurrent falls, as well as non-fallers were compared. Results Of the 438 falls evaluated, 71.9% occurred in patients' room and 18.9% in patients' bathroom/toilet. The common activities were moving/transferring and taking shower/toileting, respectively, 70.3%, 12.1% while occurring falls; and time of falls had a high peak during 9:00-11:00 a.m. Many were unassisted while falling. The common contributing factors for fall were intrinsic factors. Patients with recurrent falls were more likely to have lower Mini-Mental State Examination (MMSE) score. Logistic regression analysis showed length of stay longer than five weeks, dementia and stroke were independent risk factors for recurrent falls; and living in hostel/nursing home preadmission, needing assistance with mobility, cognitive impairment, stroke, incontinence and arthritis/osteoporosis were independent risk factors for fall.Conclusions In an aged care ward, falls are independently associated with recurrent factors. Cognitive impairment/dementia was a strong risk factor for falls, and main causes leading to fall were intrinsic factors. For patients with cognitive impairment/dementia and behavioral disorder providing special and effective interventions is of paramount importance for reducing the incidence of fall in an aged care ward in hospital settings。

Abstract：Background The prevalence and the spectrum of thyroid dysfunction in the mainland of China are not adequately understood. We performed a population-based study to determine the prevalence of major thyroid dysfunctions including overt and subclinical hyper- and hypothyroidism in a stable cohort.Methods All active and retired employees aged 20 years and older (11 067) of Sinopec Zhenhai Refining & Chemical Company in Ningbo participated in the cross-sectional survey with a questionnaire and blood samples. Results A total of 10 405 individuals attended for screening. Using biochemical definitions 95.5% were euthyroid. The prevalence of former diagnosed hyperthyroidism was 1.1% in females and 0.4% in males, hypothyroidism 1.7% and 0.3%, and thyroid surgery 1.2% and 0.3%, respectively. In both sex the prevalence increased with age. Twenty-four percent of individuals with thyroid surgery or medications had abnormal thyroid-stimulating hormone (TSH) levels. In individuals without a history of thyroid disease, the prevalence of pathological TSH values in females and males were TSH ≥10 mU/L 0.60% and 0.29%; TSH 4.8-9.9 mU/L 5.71 % and 2.25%; TSH <0.3 mU/L 0.87% and 0.41 %, respectively. Overt hyper- and hypothyroidism were uncommon (0.2%, 0.3%, respectively). The prevalence of subclinical hyper- and hypothyroidism was 0.4% and 3.4%, respectively. Subclinical hypothyroidism was more common in females (male 2.4% vs. female 5.8%, P<0.001) and with increasing age (P<0.001).Conclusions The prevalence of thyroid dysfunction is 4.5% in the cohort. Among individuals with thyroid medications or surgery, only 75.7% were within the normal range of TSH. These results indicate that thyroid dysfunction is common in Chinese adults。

Abstract：Background Enterovirus 71 (EV71) and coxsackievirus A16 (Cox A16) are major causative agents for hand, foot and mouth disease (HFMD). Studies indicate that the frequent HFMD outbreaks result in a few hundreds children's death in China in recent years. The vaccine and other research for HFMD need to be developed urgently. The aims of our study were: to explore dynamic development of mother-source neutralizing antibodies against EV71 and Cox A16 in infants from Jiangsu Province, China, and to provide the fundamental data for further establishing of corresponding immunization course.Methods Peripheral blood samples were collected from 133 of parturient women once immediately before delivery and their infants at two and seven months of age. Method of micro-dose cytopathogenic effect was used to measure neutralizing antibodies against EV71 and Cox A16, respectively.Results Seropositive rates of anti-EV71 and anti-Cox A16 in prenatal women were 79.7% (106/133) and 92.5% (123/133), respectively; geometric mean titers (GMTs) were 29.0 and 61.9; 75.9% (101/133) prenatal women were both positive in anti-EV71 and anti-Cox A16; seropositive rates of anti-EV71 and anti-Cox A16 were 25.6% (34/133) and 38.3% (51/133) in infants at two months of age; GMTs were 12.3 and 18.0, respectively. GMTs of anti-EV71 were significantly higher for infants at seven months (82.6) compared with that at two months (P <0.05), showing infants had inapparently infected by EV71 during two to seven months. Although only one offspring (0.75%) at seven months was found having anti-Cox A16 transfered from maternal, this observation suggested no maternal antibody may remain in infants at seven months.Conclusions The prevalence of EV71 and Cox A16 were relatively high in Jiangsu Province. Bivalent vaccine against both EV71 and Cox A16 should be developed, and the ideal time point for prime immunization for infants is around 2-5 months of age。

Abstract：Background C-reactive protein (CRP) is a lowly expressed marker for inflammatory response. This study aimed to evaluate the prognostic value of baseline CRP levels in patients undergoing coronary revascularization in the context of modern medical treatment.Methods This was a retrospective study in a single center. Four hundred and fourteen patients were enrolled, who underwent coronary revascularization and received adequate medication for secondary prevention of coronary heart disease. The study compared the follow-up clinical outcomes between high level CRP group (CRP >5 mg/L) and low level one. The median follow-up time was 551 days.Results Compared with low CRP group, the relative risk (RR) of the major adverse cardiovascular and cerebral events (MACCE) in high CRP group was 5.131 (95% C/: 1.864-14.123, P=0.002). There were no significant differences in death,myocardial infarction and stroke during the follow-up between two groups, but a higher risk of re-revascularization was found in high CRP group (RR 6.008, 95% C/: 1.667-21.665, P=0.006). Cox regression analysis showed that only CRP level could contribute to MACCE during the follow-up. MACCE-free rate was much lower in high CRP group (Kaplan-Meier log-rank P<0.001).Conclusion In the context of modern medical treatment, the baseline level of CRP is an independent predictor for long-term prognosis in patients with coronary revascularization。

The phosphatidylinositol 3-kinase/Akt serine/threonine kinase system regulates multiple cellular processes through the phosphorylation of a great number of downstream substrates and has been recognized as an important pathway for signal transduction, and in cancer invasion and metastasis。

CHARACTERISTICS OF THE PROGRESSION OF CHRONIC KIDNEY DISEASE (CKD)

Glucose is derived from three sources: intestinal absorption, glycogenolysis, and gluconeogenesis. Hypoglycemia in child is often attributed to depletion of glycogen stores. However, recently, congenital hyperinsulinism becomes an important cause of hypoglycaemia in early infancy. Mutations in the genes encoding SUR1 and KIR6.2 are the most frequent genetic causes of hyperinsulinism followed by mutations in the glutamate dehydrogenase (GDH) gene which encodes hyperinsulinism/hyperammonaemia (HI/HA) syndrome。

Globalization brings about a new era of more integrated human society. However, it is a double-edged sword: while enjoying the benefits of closer economic, trade and more frequent cultural exchanges among countries, we are encountered with a number of problems and risks, such as nuclear weapons proliferation, environmental pollution, natural disasters, spread of infectious diseases, etc. Given this fact, new concepts of global health governance have emerged in the health arena across the globe in recent years。

Conjoined twins are very rare with an estimated incidence of about 1 in 200 000 births with a male-female ratio of 1:3.1 The separation of conjoined twins presents a challenge to surgeons and also a test for comprehensive efficiency of a hospital. Recently, a rare pair of pygopagus twins were admitted to our hospital and a successful surgical separation was carried out。

Schwannomas are usually benign tumors that arise from a nerve supporting the Schwann cells, those are mostly associated with the cranial or main peripheral nerves. The occurrence of retroperitoneal schwannoma is quite rare, and in such a case, surgical excision is the first option for treatment。

Tongue lesions resulting from mucositis are a frequent complication of high-dose chemotherapy and irradiation. They are very common in patients with hematopoietic stem cell transplantation, and tongue lesions due to other causes have also been reported. Black hairy tongue (BHT) is a special tongue lesion, not rare in the population with tobacco abuse, but so far it has not been reported after allo peripheral blood hematopoietic stem cell transplantation (allo-PBHST). Here we presented a patient who developed BHT after allo-PBHST and discussed the factors that may cause this condition。

Castleman's disease (CD) is a benign lymphoid neoplasm characterized by massive proliferation of the lymphoid tissue due to an uncertain cause.1 Two clinical types (localized, multicentric) have been described with three histological variants (hyaline-vascular, plasma cell and mixed type). The expected localization is mediastinum and rarely pararenal retroperitoneum。

Spinal cord injury (SCI) is a major cause of disability. A serious consequence of SCI is the loss or partial loss of motor control. A number of therapies are currently being developed for restoring motor function in SCI patients.1'2 However, such approaches generally require intact neural motor systems for driving limb movements.

Malignant melanoma involving the respiratory tract, which is predominantly found in the skin, is nearly metastatic and true primary tumours are very rare.1 To date, only 32 cases have been reported in English literature and 22 cases of primary malignant melanoma of the lung have been reported in Chinese literature。

Primary mediastinal liposarcoma is an uncommon neoplasm of intrathoracic origin. A case of a giant primary posterior mediastinal liposarcoma, mimicking a benign lipomatous lesion in shape and biological behavior and being successfully managed by complete surgical excision is presented here。