2012年 · 第50卷第08期

congenital heart disease (CHD) refers to the cardiovascular malformation caused by the abnormality of the heart or large blood vessels in the uterus of the fetus^[1]It is one of the most common congenital malformations. CHD can be divided into three categories according to hemodynamic changes: (1) No shunt type (no cyanotic type): that is, there is no abnormal pathway and shunt on the left and right sides of the heart or between arteries and veins, and no cyanosis, including aortic coarctation, pulmonary valve stenosis and aortic valve stenosis. (2) Left-to-right shunt type (latent cyanotic type): there are abnormal channels between the left and right sides of the heart, such as atrial septal defect, ventricular septal defect and patent ductus arteriosus. (3) Right-to-left shunt type (cyanosis type): that is, the venous blood in the right cardiovascular lumen is shunted into the left cardiovascular lumen through abnormal traffic, and a large amount of venous blood is injected into the systemic circulation, so persistent cyanosis can occur, including tetralogy of Fallot, triad of Fallot and right ventricular double outlet. According to the annual birth rate of about 1.2% and the prevalence rate of CHD among infants and young children of 0.8%, 125,000 children with CHD are born in China alone every year^[2]It imposes a heavy economic burden on families and society. Genetic epidemiology showed that the heritability of each type of CHD was 35%^[3]90% of children with CHD are caused by the encounter of various external teratogens during cardiovascular formation during the embryonic period^[4]。 Folic acid supplementation at the beginning of pregnancy reduces the incidence of CHD, especially the incidence of severe complex CHD, and can reduce the incidence of CHD with extracardiac malformations^[5,6]。 Although the mechanism by which folic acid supplementation reduces the incidence of CHD is not fully understood, the mechanism by which folic acid supplementation reduces the incidence of CHD is not fully understood, but the mechanism by which folic acid supplementation reduces theFigure 1It is possible to reduce the occurrence of CHD from two aspects: (1) to ensure adequate DNA synthesis, methylation and repair during fetal development^[7]； (2) Reduce the level of HCY through the homocysteine (HCY) metabolic pathway and eliminate the toxic effect of high level of HCY on fetal development^[8]。 Therefore, in molecular genetics, it is generally believed that the mutation of enzyme genes involved in folate and related metabolic pathways is closely related to the pathogenesis of CHD in offspring.

congenital heart disease (CHD) is the most common birth defect, with an incidence of 6‰ ~8‰ in newborn infants^[1]。 At present, the pathogenesis of CHD is still unclear. Some studies have suggested that somatic mutation may be one of the pathogenesis of CHD, and confirmed the existence of somatic mutation, but subsequent studies have not found the existence of somatic mutation. Therefore, whether there is somatic mutation in myocardial tissue of CHD patients and whether somatic mutation can be one of the pathogenesis of CHD is still controversial. This article reviews this.

Hemophilia is a congenital coagulation factor VIII/IX deficiency or synthetic disorder associated with sex. According to statistics, the prevalence of hemophilia in China is 2.73/100,000 population^[1]。 Severe hemorrhage in patients with moderate and severe hemophilia^[2]Bleeding symptoms began in toddler and gradually increased. 80% of hemophilia hemorrhage occurs in the joint cavity^[3]Repeated joint hemorrhage can cause hemophilic joint lesions, which is the most common complication and the main cause of disability. intracranial heamorrahge (ICH) is the most severe type of hemophilia^[4]Can be life threatening^[5]。

In recent 20 years, with the development of society and economy, the spectrum of gastrointestinal diseases in children has changed greatly, from a single acute and chronic diarrhea disease in the past to many kinds of chronic digestive tract diseases involving esophagus, stomach, small intestine and large intestine, and it has been found that the etiology and pathogenesis of many gastrointestinal diseases are involved in immune disorders or abnormal responses, and the immune regulatory mechanism is still not completely clear. For example, chronic gastritis and peptic ulcer caused by Helicobacter pylori (Hp) infection in children, in addition to mucosal damage caused by various virulence factors of bacteria itself, abnormal response of gastrointestinal immune system function is also an important pathogenic mechanism of the host. Especially accompanied by an innate defense or adaptive immune response elicited by the host immune response, does not effectively clear Hp so that its infection persists^[1]。 In addition, some Hp infected people also exhibit parenteral diseases related to immune disorders, such as Henoch-Schonlein purpura, diabetes, urticaria, etc^[2]。 Another example is inflammatory bowel disease characterized by intestinal mucosal inflammation, which is a group of autoimmune diseases including Crohn's disease and ulcerative colitis. In recent years, the incidence is on the rise in China, and it is speculated that it is related to intestinal mucosal barrier dysfunction and abnormal regulation of immune response^[3]。 In addition, the increasing number of gastrointestinal food allergies in clinic, such as allergic coloproctitis, protein-induced bowel disease, eosinophilic gastrointestinal disease, etc. are also related to immunological etiology^[4]。 The immune regulatory mechanisms involved in these gastrointestinal infections, inflammation and allergic diseases are still the hot topics of clinical discussion and attention.

juvenile dermatomyositis (JDM) is a kind of chronic autoimmune inflammatory myopathy occurring in childhood. It is mainly characterized by non-suppurative inflammation of striated muscle and skin. The clinical manifestations are proximal muscle weakness and various skin rashes, and organs such as digestive tract and lung can also be involved^[1]。 JDM is relatively uncommon, with a reported incidence of 2 to 4 per million children abroad^[2,3]There are slightly more girls than boys, and the onset age is mostly 5-14 years old. The etiology of this disease is unknown, and it is currently considered to belong to immune complex vasculitis^[4,5]The disease is caused by a combination of genetic susceptibility and environmental factors (such as infection)^[6,7,8,9]。

Infectious endocarditis (IE) is a multi-system infectious disease. Its clinical manifestations and related complications are related to hemodynamic changes caused by endocardial inflammation, embolism caused by neoplasms, and immune response, and also closely related to pathogenic microorganisms. In recent years, with the changes of pathogenic microorganisms in IE, the clinical characteristics have also changed, and the diagnosis of IE is sometimes difficult. Early and timely diagnosis and treatment directly affect the prognosis of patients. In 2001, the Cardiovascular Group of Pediatrics Branch of Chinese Medical Association and the Editorial Committee of Chinese Journal of Pediatrics put forward "Diagnostic Criteria for Childhood Infectious Endocarditis (Trial)"^[1](hereinafter referred to as the "2001 Standard"). After practical clinical application and modification, the "recommendation of diagnostic criteria for infectious endocarditis in children" was put forward in 2010^[2](hereinafter referred to as the "2010 Standard"). Combined with the relevant research data at home and abroad, the "2010 Standard" is interpreted.

In order to standardize the diagnosis and treatment of children's rheumatic diseases in China, in January 2010, the Immunology Group of Pediatrics Branch of Chinese Medical Association and the Editorial Committee of Chinese Journal of Pediatrics jointly organized a meeting of experts in Chongqing to discuss and draft recommendations for the diagnosis and treatment of children's rheumatic diseases in China for the first time, including systemic lupus erythematosus (pSLE), juvenile idiopathic arthritis (JIA) and juvenile dermatomyositis (JDM) in childhood. According to the working principle of evidence-based medicine, the expert group summarized domestic and foreign research results at the current stage, and evaluated the grading of evidence. During the work, the expert group found that both domestic and foreign literatures lacked high-level clinical research data and randomized controlled studies (RCT) of JDM, and the limited data were mostly observational studies. Although the "Recommendations for the Diagnosis and Treatment of Juvenile Dermatomyositis" (hereinafter referred to as the "Recommendations") use objective statements of evidence-based medical evidence sources and evaluation results as much as possible, due to the limitations of staged clinical medical research data, the "Recommendations" inevitably have deficiencies. The relevant issues in the Recommendations will be elaborated as follows.

The child was a male, 11 months and 18 days old, with intermittent fever for 20 days and convulsions once admitted to hospital. A congestive rash appeared throughout the body on day 3 of the fever. Conjunctiva congestion in both eyes and red lips. On the fourth day of the course of the disease, the other hospital was treated with "cefepime and dexamethasone" for 10 days. The body temperature dropped to normal and the rash subsided. After 3 days, the fever appeared again, and the body temperature did not decrease after treatment with "azithromycin, cefepime and hydrocortisone sodium succinate" for 3 days. On the 20th day of the course of the disease, the right limb was rigid and twitched, and the consciousness was confused. After treatment with "chloral hydrate, diazepam and mannitol", it stopped after 2 hours. Transfer to our hospital. No previous history of convulsions. Physical examination at admission: body temperature 39.1 ℃, 24 breaths/min, blood pressure 100/60 mm Hg (1 mm Hg =0.133 kPa). There was no swelling of superficial lymph nodes and no rash throughout the body. The anterior fontanel is the size of a fingertip. The conjunctiva of both eyes was not congested. Both pupils are equal in size and round, with a diameter of 2.5 mm, and light reflection is obtuse. Ankylosis of the neck. The heart rate was 144 beats/min, the heart rhythm was uniform, the heart sound was strong, and the systolic murmur of grade 2/6 was heard between the costs of 4~5 on the left margin of the sternum. The abdomen is soft, 1.0 cm under the costs of the liver, and the texture is soft. Membranous peeling of the fingertips and rigid edema of both feet. Normal muscle tone in extremities. Bilateral Babinsky, Oppenheim and Chaddock signs were all positive. Blood routine in other hospital: white blood cells 32.0×10⁹/L, hemoglobin 135 g/L, platelets 288×10⁹/L, neutrophils 57.5%, lymphocytes 35.3%.