2016年 · 第54卷第05期

Precision medicine is based on the rapid development of related science and technology, especially genome technology. Precision medicine has become an important strategic layout for a new round of national scientific and technological competition and leading the international development trend. Precision medicine refers to the application of modern genetics, molecular imaging, bioinformatics and clinical medicine methods and means to formulate personalized precision prevention, precision diagnosis and precision treatment plans based on the knowledge system of molecular mechanisms of diseases obtained from large samples, based on biomedical, especially omics data, and according to the specificity of individual patients in genotype, phenotype, environment and lifestyle. Therefore, precision medicine can fundamentally and accurately optimize the diagnosis and treatment effect, avoid the waste of medical resources, and optimize the allocation of medical resources.

acute respiratory distress syndrome (ARDS) was first defined at the 1994 American European Consensus Conference (AECC)^[1]Again revised in Berlin 2012 (Berlin Standard)^[2]。 However, children have not been included in AECC and Berlin criteria. Although adults and children have similarities in pathophysiology of ARDS, there are still large differences in risk factors, etiology, comorbidities, ventilator setting and prognosis. June 2015 atPediatric Critical Care MedicineThe full text of "Childhood Acute Respiratory Distress Syndrome: Consensus Recommendations for Childhood Acute Lung Injury Conference" was published on^[3]。 This is also the first international development of children's ARDS (PARDS) standards. Now we will interpret the important part of its new consensus.

Male, 8 years old, saw a doctor in April 2013 because "physical examination found obvious abnormal blood lipids for 1 month". No abdominal pain, vomiting and other digestive symptoms, usually like to eat fat meat, less vegetables, normal growth and development. Serum total cholesterol (TC) was 5.6 mmol/L and triglyceride (TG) was 18.2 mmol/L in other hospitals. Parents married unrelated. There was no history of obesity, diabetes, hypertension and cardiovascular disease in the family. The father was 35 years old, with serum TG 2.98 mmol/L and normal TC. The mother's serum lipids were normal, and the grandfather's serum TG 3.45 mmol/L. There was no history of lipid-lowering treatment. Physical examination: height 128.6 cm (50th percentile of growth and development curve,P₅₀), body weight 30 kg (P₅₀), well-proportioned figure, no pigmentation and xanthoma on the skin. There were no abnormalities in the heart, lung and abdomen. Serum alanine aminotransferase 5 (reference value 7-40) U/L, TC 7.36 (reference value 3.40-5.20) mmol/L, TG 45.96 (reference value 0.23-1.70) mmol/L, high density lipoprotein cholesterol (HDL-C) 0.47 (reference value 0.88-1.80) mmol/L, low density lipoprotein cholesterol (LDL-C) 2.45 (reference value 2.70-3.10) mmol/L at fasting 12 h, thyroid function was normal. Primary hypertriglyceridemia was initially diagnosed and treated with a low-fat diet. After 1 month follow-up, TC was 3.78 mmol/L, TG was 6.05 mmol/L, HDL-C was 1.05 mmol/L, LDL-C was 1.90 mmol/L, apolipoprotein (apo) A1 was 0.78 (reference value 0.65-1.61) g/L, apoB was 0.53 (reference value 0.39-1.05) g/L, and apoE was 59.9 (reference value 27.0-53.0) mg/L. 3-month review TC 5.03 mmol/L, TG 13.42 mmol/L, HDL-C 1.00 mmol/L, LDL-C 1.58 mmol/L, apoA1 0.81 g/L, apoB 0.66 g/L, apoE 91.2 mg/L. After 2 years, TC was 4.87 mmol/L, TG was 12.68 mmol/L, HDL-C was 1.48 mmol/L, and LDL-C was 2.02 mmol/L. There were no abdominal pain, vomiting and other discomfort.

The child was a 16-year-old male. He was admitted to the First Hospital of Jilin University in 2015 due to "limb weakness for 4 years". The child grew and developed normally since childhood, but was not good at competitive activities. At the age of 12, it was laborious to lift heavy objects and climb stairs, and it was easy to get fatigued. Symptoms are volatile. There were no muscle pain, dysphagia and diplopia during the course of the disease. Denying family genetic history, healthy parents, no other siblings in the family. Physical examination: clear and clear, cranial nerve examination showed no abnormalities, proximal muscle strength of limbs 3^＋Grade, distal muscle strength grade 4, bilateral tendon reflexes were weakened, deep and superficial sensation and mutaxia examination showed no abnormalities, and pathological signs were not drawn out. Auxiliary examination: Serum creatine kinase 307 U/L (25-200 U/L). Low frequency repetitive nerve electrical stimulation showed decreasing amplitude phenomenon, and electromyography suggested myogenic changes.

The child was an 11-year-old male, who started at the age of 5. He showed hemorrhagic rash with thrombocytopenia after fever, without neurological symptoms. He went to a local hospital and the blood test showed hemoglobin 70 g/L and platelets 9×10.⁹/L, blood smear showed schizocytes, urine routine showed urine protein (+ + ~ + + +), autoantibody negative, Coomb's test negative, renal function normal, complement C3, C4, CH50 all normal, abdominal B-ultrasound showed: the structure of both kidneys was unclear, and two bone marrow punctures were normal, which was considered as thrombocytopenia and hemolytic uremic syndrome (HUS)? Plasma transfusion was given to the treatment, and the platelets, hemoglobin and urine routine returned to normal after follow-up. The child had two attacks in March 2012 and September 2014, respectively. Both showed hemorrhagic rash with thrombocytopenia after fever. Blood routine showed a decrease in hemoglobin, a significant decrease in platelets, normal urine protein (+ + ~ + + +), creatinine and urea nitrogen, negative autoantibodies, normal complement, and good plasma transfusion effect. He had a recurrent attack in December 2014, presenting as a hemorrhagic rash with thrombocytopenia after fever, and was seen in Fudan University Pediatric Hospital.

Tuberous sclerosis (TSC) is an autosomal dominant disease with a population prevalence of 1/ (6 000 to 10 000)^[1,2]。 TSC can involve skin, brain, heart, kidney and other organs, and its clinical features include depigmented spots, facial angiofibroma, epileptic seizures and mental retardation. Imaging examination shows multiple nodules in the subependymal and cerebral cortex, and subependymal giant cell astrocytoma (SEGA). Other organs may have angiomyolipoma (AML), lymphangioleiomyomatosis (LAM), etc^[2]。 There has been a long-term lack of specific therapeutic approaches and poor prognosis. At present, the pathogenic mutant gene of TSC has been clearly established, and the overactivation of mammalian rapamycin target protein (mTOR) pathway plays an important role in the pathogenesis of TSC, which has become the target that may reverse or even cure this disease. Rapamycin and its derivative everolimus, as mTOR inhibitors, provide a new therapeutic method for the treatment of TSC, which has recently received widespread attention at home and abroad.

autistic spectrum disorder (ASD) refers to a series of developmental disorders of the nervous system, according to the Diagnostic and Statistical Manual of Psychiatric Disorders, 5th Edition (DSM-5), which are mainly characterized by difficulties in social, verbal and nonverbal communication and stereotyped or repetitive behaviors. The diagnosis of ASD has been growing rapidly over the past 10 years, with the published prevalence of ASD in children in 2012 being 1 in 88^[1], while recent CDC data suggest that the prevalence of ASD in children is 1 in 68. Studies on ASD mainly focus on genes. Recent studies have shown that some environmental factors, including prenatal or postnatal exposure to toxic and harmful substances, changes in gastrointestinal microorganisms, dietary factors and allergies may influence the occurrence and development of ASD^[2]。 Intestinal microorganisms play a key role in human health and disease^[3]。 Gut microorganisms are able to interact with the central nervous system through the brain-gut axis, affecting human cognition and mood^[4]。 9% to 91% of children with ASD have symptoms of gastrointestinal disease^[5]About half of them are accompanied by diarrhea or constipation, and the imbalance of intestinal flora may be related to the occurrence and development of ASD. The changes of intestinal flora and its effects in children with ASD are reviewed.

The small intestine is the longest organ of the gastrointestinal tract, located deep in the abdominal cavity, away from the mouth and anus, with multiple curvatures and overlapping, and is often regarded as a "blind spot" in digestive tract diagnosis. Traditional imaging or endoscopic techniques have problems such as low diagnosis rate, great pain, non-cooperation of children and great trauma, which limits the diagnosis level of pediatric small intestine diseases. In recent years, capsule endoscopy, which is characterized by non-invasive, simple operation and high detection rate, has greatly improved the diagnosis level of small intestine diseases, and its safety is also of special significance to children in the growth and development period. This paper reviews the indication, preparation process and diagnostic value of capsule endoscopy in the diagnosis of small intestine diseases in children in recent years, so that pediatricians can comprehensively understand its clinical characteristics and lay the foundation for its large-scale application.

nephrotic syndrome (NS) is a common kidney disease with limited therapeutic drugs. Many patients do not respond to existing treatment and eventually progress to end-stage kidney disease. Research on new drug development and new applications of traditional medicines has been ongoing^[1]。 1999 Berg et al.^[2]It was unexpectedly discovered that adrenal corticotropic hormone (ACTH), a melanocortin drug widely used in the treatment of NS in children half a century ago, can induce remission in hormone-resistant NS patients, which makes ACTH and similar drugs attract renewed attention. In recent years, more and more evidence has shown that ACTH can protect the kidney and reduce proteinuria through the extraadrenal melanocortin pathway, especially in some NS patients who are resistant to existing therapies.

Diagnostic tests are mainly used to evaluate the advantages and disadvantages of disease diagnosis methods, and guide clinical intervention and treatment. The evaluation of diagnostic tests is very important. Correct understanding of the questions that should be answered in each stage of diagnostic tests can improve the quality of diagnostic tests and avoid misuse of diagnostic tests. Now, four stages of diagnostic tests are introduced.