Objectives To report the clinical and myopathological features in a case with Danon disease caused by a novel mutation in the lysosome-associated membrane protein-2 ( LAMP2 ) B gene.Methods A 16-year-old boy presenting progressive muscle weakness and atrophy, accompanied with spinal ankylosis was clinically evaluated including electrocardiogram, echocardiogram and electromyogram.Muscle biopsy was carried out in the patient.The histological staining, ultrastructural examination, and immunohistochemical staining with antibodies against dystrophin, merosin and C5b9 were performed in frozen sections.LAMP2B sequence was analyzed in the patient and his parents.Results Electrocardiogram in the patient showed Ⅰ atrioventricular block; echocardiogram revealed focal hypertrophy in mitral valve with mild cardiac diastolic dysfunction; electromyogram indicated myogenic and neurogenic patterns.Muscle pathology study revealed numerous vacuoles located at the fibers.Dystrophin, merosin and C5b9 was immuno-positive around the vacuoles.Electron microscopy revealed vacuoles surrounded by sarcolemma and abnormal lysosome aggregating at the fibers.A novel nonsense mutation ( K402X ) in the LAMP2B gene has been identified in the patient but not in his mother and 50 normal controls.Conclusions Danon disease caused by K402X mutation in C-terminus of LAMP2B presented benign course of the disease characterized by prominent vacuolar skeletal myopathy, mild cardiac abnormalities and peripheral neuropathy.

Wild birds (mainly Anseriformes and Charadriiformes) are recognized as the natural reservoir of avian influenza viruses (AIVs). The long-term surveillance of AIVs in wild birds has been conducted in North America and Europe since 1970s. More and more surveillance data revealed that all the HA and NA subtypes of AIVs were identified in the wild ducks, shorebirds, and gulls, and the AIVs circulating in wild birds were implicated in the outbreaks of AIVs in poultry and humans. Therefore, the AIVs in wild birds pose huge threat to poultry industry and human health. To gain a better understanding of the ecology and epidemiology of AIVs in wild birds, we summarize the transmission of AIVs between wild birds, poultry, and humans, the main results of surveillance of AIVs in wild birds worldwide and methods for surveillance, and the types of samples and detection methods for AIVs in wild birds, which would be vital for the effective control of avian influenza and response to possible influenza pandemic.
Animals ; Animals, Wild ; virology ; Birds ; virology ; Humans ; Influenza A virus ; genetics ; isolation & purification ; physiology ; Influenza in Birds ; epidemiology ; transmission ; virology ; Influenza, Human ; epidemiology ; transmission ; virology ; Sentinel Surveillance ; veterinary

Objective:To study the changes of upper airway dimension and morphology in Class Ⅱ mandibular retrusion children af-ter functional treatment by Twin-block appliance.Methods:The Cone-Beam CT(CBCT)data of upper airway of the subjects were measured with Dolphin 11.5 software before and after fuctional treatment by Twin-block appliance.The comparison of upper airway di-mension and morphology between pre-treatment and post-treatment was performed by paired t-text.Results:After functional treatment the volume of total upper airway,velopharyngeal airway,glossopharyngeal airway,laryngopharyngeal airway,oropharyngeal airway,the sectional area of the inferior of the soft palate(SP),tip of the epiglotti(TE),the sagittal diameter of SP,the lateral diameter of SP and TE increased(P <0.05)in the children;the airway's shape of SP was attended to be rounder and TE to be more flat.Conclusion:Functional treatment is effective in the treatment of skeletal Class Ⅱ mandibular retrusion of children by increase of the upper airway and improvement of respiration.

Objective:To evaluate the value of Cook MOB-15 system in guiding wire insertion during endoscopic retrograde cholangiopancreatography (ERCP). Methods: The clinical data of 51 patients who received Cook MOB-15 system-guided wire insertion during ERCP between Jan. 2005 to Dec. 2007 were retrospectively analyzed. Forty patients who received conventional ERCP catheter for malignant jaundice between Jan. 2002 and Dec. 2004 were taken as control. The successful insertion rates were compared between the 2 groups. Results: The successful insertion rate was 90.2% (46/51) in the Cook MOB-15 system group and 72.5% (29/40) in the conventional group; there was significant difference between the 2 groups (P

Adult ; Arsenic ; pharmacology ; Chromosome Aberrations ; chemically induced ; Dose-Response Relationship, Drug ; Female ; Humans ; Lymphocytes ; drug effects ; metabolism ; Male ; Middle Aged

Adult ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Lead ; blood ; Lead Poisoning ; blood ; epidemiology ; Middle Aged

Objective To investigate the characteristics of IL-22 in Helicobacter pylori (H.pylori)infection.Methods Thirty H.pyloripositive and fifteen H.pylori negative gastric biopsy specimens were enrolled,IL-22 mRNA expression was detected by real-time PCR and the protein level of IL-22 was determined by ELISA in gastric tissue.The H.pyloriand cell coculture system was established and IL-22 expression was measured by real-time PCR to investigate the main source of IL-22 in gastric tissue.The IL-22-producing T cell was examined by FCM in the gastric mucosa tissue.Results Gastric mucosal IL-22 mRNA and protein levels were significantly higher in H.pylori-positive patients than uninfected patients (P＜0.05).A H.pyloriand cell coculture system was established successfully and gastric epithelial cell and T cell were the main source of IL-22 in gastric tissue.IL-22 was produced by CD4+ and CD8+ T cells and these T cells were increased in H.pylori-infected gastric mucosa (P＜0.05).Conclusion IL-22 took part in H.pyloriinfection induced immune response and increased IL-22-producing T cells was the important feature of H.pyloriinfection.

Objective To investigate the relationship between the soluble LAIR-1(sLAIR-1)in the serum from recipients after transplant and graft rejection.Methods Serum sLAIR-1 level was determined by double mAb sandwich enzyme linked immunosorbent assay on 23 cases of liver transplantation and 139 cases of kidney transplantation.Results In healthy volunteers and 98 recipients with normal graft function,sLAIR-1 was detected at low level [(4.3±2.3)μg/L and(6.3±3.7)μg/L],with the difference being not significant.In 6 cases of liver acute rejection,20 cases of kidney acute rejection and 5 cases of graft loss,serum sLAIR-1 levels were increased remarkably at high 1evels [(47.2±25.9)μg/L,(36.3±14.7)μg/L,and(28.8±9.4)μg/L respectively]as compared with the two groups of healthy volunteers and the recipients with normal graft function,even peaked at 117.3 μg/L in one case of severe liver rejection.Meanwhile,in 5 cases of liver chronic rejection,27 cases of kidney chronic rejection and 6 cases under dialysis treatment.the levels of sLAIR-1 were(16.1±6.4)μg/L,(13.1±5.5)μg/L and(11.2±4.6)μg/L respectively,significantly higher than those of the healthy volunteers and the recipients with normal graft function.Conclusion sLAIR_1 was detected at high level in the recipients suffered graft acute or chronic rejection and might be a promising monitor of rejection after transplantation.

At present, the English translation of TCM terms of pulse picture are various, which would bring confusion to the study and research on TCM diagnostics. In this paper, four principles for the translation are suggested by the authors: to distinguish the nomenclature of term with its connotative explanation, to translate with commonly used words in general, to create new word with common affix and to differentiate the terms similar in meaning. The authors tried to make choice the best translation for each kind pulse picture, and explained the reasons for selection.
Humans ; Medicine, Chinese Traditional ; Pulse ; Terminology as Topic ; Translations

OBJECTIVETo investigate the roles of nitric oxide (NO) and eNOS in the pathogenesis of vasovagal syncope (VVS).

METHODSFourteen children with VVS (group A), 10 children with syncope other than vasovagal (group B) and 20 healthy volunteers (group C) were enrolled. Plasma NO levels in groups A and B were determined before and at the termination of the head-up tilt table test (HUT). The G894T polymorphism within the eNOS gene was determined in the three groups.

RESULTSPlasma NO levels in group A increased significantly when syncope attacked from 76.7+/-9.6 micromol/L (before HUT) to 90.0+/-11.4 micromol/L (P<0.05). After the syncope attack was improved, plasma NO level in group A was significantly reduced. There were no statistical differences in plasma NO levels before and after the HUT in group B. Determining the G894T polymorphism within the eNOS gene showed that group A was associated with a higher incidence of the GT gene type as compared to groups B and C (42.9% vs 10%; P<0.05).

CONCLUSIONSPlasma NO may be involved in the pathogenesis of VVS. The increased plasma NO level may be associated with the G894T polymorphism of the eNOS gene.

Child ; Humans ; Nitric Oxide ; blood ; physiology ; Nitric Oxide Synthase Type III ; genetics ; physiology ; Polymorphism, Genetic ; Syncope, Vasovagal ; etiology