2013年 · 第51卷第09期

Member of the 9th and 10th Editorial Committee of Chinese Journal of Pediatrics, Professor of Pediatrics, Deputy Director of Pediatrics, Secretary of Pediatrics Party Branch, Master's Tutor and Professor Guangzu of the Second Affiliated Hospital of Xi 'an Jiaotong University School of Medicine (formerly Xi' an Medical University), died at 11: 30 pm on July 26, 2013 due to ineffective treatment at the age of 84.

Monogenic genetic diseases (such as genetic metabolic diseases and primary immunodeficiency diseases) are specific clinical manifestations (diseases) caused by a protein defect caused by a mutation in a gene. The Online Mendelian Inheritance in Man (OMIM) database (http: / /www.ncbi.nlm.nih.gov/omim/) was established in 1966 and has collected 4,970 genetic diseases caused by 19,230 single gene mutations by 2013. Monogenic genetic diseases promote the understanding of the genetic background of the disease, the biological functions of genes and their expression products, the molecular biology of the disease, and the molecular genetic pathogenesis.

A 12-year-old male was admitted for "intermittent hemoptysis for 1 year". A total of 5 hemoptysis times within 1 year, with a dose of 50~100 ml/time, and no other obvious discomfort. I visited a local hospital, but the cause was not clear during hospitalization examination. Past history: Eczema of the trunk, limbs, face and neck began to appear repeatedly after birth. Surgery for suppurative lymphadenitis of the left neck at 1 year of age. 3 years ago, because the deciduous teeth did not fall out, the deciduous teeth were extracted in the stomatology department. "Chickenpox" at the age of 10. Physical and intellectual development are the same as normal children of the same age. Family history is not special.

A 7-year-old and 5-month-old male was admitted to the hospital with "6 months of abdominal pain and 2 months of intermittent melena". Six months ago, periumbilical paroxysmal pain appeared without obvious trigger, lasting for several minutes each time, which could alleviate by itself, without fever, cough, vomiting, diarrhea and melena. There was no obvious abnormality in total digestive tract angiography in the local hospital. Abdominal color ultrasound showed multiple mesenteric lymphadenopathy, and blood routine showed WBC 6.91×10⁹/L, Hb 130.5 g/L, PLT 216×10⁹/L, diagnosis of "mesenteric lymphadenitis", anti-infective treatment, abdominal pain was not significantly relieved. 2 months ago, melena appeared twice, accompanied by pale complexion and fatigue. B-ultrasound of liver, gallbladder, pancreas, spleen and kidneys in the local hospital showed no abnormalities. Upper gastrointestinal angiography: "superficial gastritis". After anti-infection and hemostatic treatment, abdominal pain was relieved and no melena was defecated. Recurrent abdominal pain with melena twice 20 d ago, blood routine: WBC 4.9×10⁹/L, RBC 3.0×10¹²/L, Hb 74 g/L, PLT 318×10⁹/L; Positive routine occult blood in stool; Ectopic gastric mucosa imaging: No abnormal radionuclide accumulation area in abdomen; Colonoscopy showed no obvious abnormalities; Total gastrointestinal angiography: "superficial gastritis". He was admitted to our hospital to find out the cause of gastrointestinal bleeding. Physical examination: anemic appearance, no rales heard in both lungs, heart rate 100 beats/min, uniform rhythm, grade II systolic blow-like murmur heard at the apex of the heart, flat and soft abdomen, no tenderness, unpalpable liver, 1 cm below the spleen and costs. Coagulation function, liver function, myocardial enzymes and renal function were not found to be abnormal. Blood routine: RBC 3.39×10¹²/L, HGB 72.5 g/L, PLT 385.00×10⁹/L, gastroscopy: "chronic superficial gastritis", abdominal CT plain scan +2D small intestine imaging: the shape and size of liver, gallbladder, pancreas and spleen were normal, and no obvious abnormal density shadow was found in it. No obvious stenosis, dilatation and soft tissue mass shadow were found in the small intestine in each group. Take 50 ml of 33% magnesium sulfate orally on the evening of the day before the capsule endoscopy, and take 137 g of compound polyethylene glycol electrolyte powder with warm boiled water to 2 L at 6: 00 the next morning. Take it within half an hour. When the stool is watery, clear and transparent, swallow the capsule endoscopy at 10: 00 am. The capsule endoscope uses MiroCam type capsule endoscope produced by Intromedic Company of Korea. The capsules were endoscopically excreted 48 h after swallowing. Capsule endoscopy results (Figure 1，Figure 2，Figure 3，Figure 4): regular folds of the stomach body, mucosal congestion and edema, gastric antrum mucosal spots; The duodenal mucosa is smooth, the lumen is unobstructed, and there is no bleeding, erosion, ulcer and new organisms; The jejunum and intestinal lumen were unobstructed, the folds were regular, the mucosa was smooth, and no bleeding, erosion, ulcer and new organisms were seen; The mucosa from the upper ileum to the terminal ileum showed scattered and multiple focal vessel texture thickened and tortuous, and no sign of active bleeding was seen. Diagnosis: "Chronic superficial gastritis, small intestinal telangiectasia, hemorrhagic anemia". After symptomatic treatment such as acid suppression, hemostasis and blood transfusion, the child's abdominal pain disappeared, no melena appeared again, and he was discharged from hospital.

A male child, 24 h, was admitted to the hospital due to "fever for 1 h". The child was the first child. Because of the mother's "pregnancy hypertension and low amniotic fluid", she was born by cesarean section at 39 weeks. Her birth weight was 2400 g, her Apgar score was 9~10, her amniotic fluid was clear, the amount was about 100 ml, her umbilical cord was wrapped around the neck for 2 weeks, and there was no premature rupture of membranes. She was admitted to the NICU for observation as a "full-term baby, high-risk baby". On the 23rd hour after birth, the child developed fever, and the body temperature reached 38.7 ℃. After lowering the box temperature and bathing with warm water, the body temperature dropped to normal, and it was planned to be admitted to the NICU for hospitalization as a "full-term sample with neonatal fever". The general condition of the child is acceptable, no cough, no mouth vomiting foam, no crying and restlessness, less milk feeding, and defecation. The parents of the child are in good health, not intimate marriage, and have no history of disease and special drug use during pregnancy.

A male, Han nationality, 16 h, was admitted to the hospital because of "bruising after crying after birth, accompanied by 16 h breastfeeding difference". The child is the first child and the first birth, due to "pregnancy 37^＋5Week, breech position "delivered by cesarean section. Weight at birth 2.6 kg, umbilical cord around neck for 1 week, placenta previa, clear amniotic fluid, blue upper lip, slightly low crying sound. Apgar score 1 min 9 points, 5 min and 10 min all 10 points. After crying, the child was obviously bruised, perioral and facial. After feeding with milk powder and water, the child vomited repeatedly, non-jet-like, and the vomit was undigested milk and gastric juice, accompanied by choking and cough. Each time, the milk intake was less, about 5 ml, and the sucking power was weak.

EpilepsyIt is a chronic brain disease caused by various reasons, with a prevalence of 5‰ ~10‰. Children are epilepsyDuring the high incidence period, children under the age of 18 accounted for all epilepsyMore than 60% of patients. EpilepsyIt is a common and serious neurological disease, which may have great adverse effects on patients' life, study, work, marriage and fertility, and bring a lasting and heavy mental and economic burden to patients' families and society. Therefore, it is listed as one of the five major neuropsychiatric diseases focused on prevention and treatment by the World Health Organization. EpilepsyThe treatment has the characteristics of long course of treatment and complex influencing factors. Children patients also need to pay attention to factors such as growth and development and mental behavior improvement. Long-term standardized treatment and follow-up management are crucial to improve prognosis. At the same time, there are still a considerable proportion of parents of children who are worried about adverse reactions caused by treatment and have poor compliance, which leads to epilepsyImportant Factors in Treatment Failure^[1]。 Therefore, anti-epilepsy in ChinaWith the organization and support of the Association, the Neurology Group of the Pediatrics Branch of the Chinese Medical Association set up an expert group to discuss and propose childhood epilepsyExpert consensus on long-term management, aimed at treating epilepsyChildren should receive more reasonable standardized long-term treatment and follow-up.

The level of children's growth and development is not only the main indicator of individual and group children's nutrition and health status, but also the important content of social development, economic and cultural status, nutrition and health care level^[1]。 The World Health Organization (WHO) and various countries and regions have formulated corresponding standards or reference values for assessing children's nutritional status, monitoring their growth and development, screening for abnormal conditions, and ensuring that children in need receive adequate treatment in time. Among them, "reference value" describes the growth status of children at a specific time and place, and provides a common reference basis for the evaluation of children's growth and development; "Standard" is the growth trend of healthy children under optimal environmental and health conditions, providing an ideal target growth pattern^[2]。 At present, the most widely used one is the new standard of children's growth issued by WHO in 2006 (hereinafter referred to as the new standard of WHO). This paper discusses the application of this standard in the world and the problems arising in its application process.

Adult hospitalized patients with nutritional risks and various nutritional problems, Bo Chen and Xiaoting Wu^[1]It is recommended that every inpatient undergo nutritional risk screening; Jiang Zhuming et al.^[2]The incidence of nutritional risk in hospitalized patients was as high as 35%; Nutritional risk or presence of malnutrition can affect patient prognosis^[3,4]。 Timely nutritional risk screening and reasonable nutritional support are both associated with improved patient outcomes.

Circular chromosome 20 syndrome is a rare disease of chromosomal abnormality. The chromosomal abnormality is that the two arms of chromosome 20 are broken, and then the two broken ends with centromere are re-fused to form a ring, hence the name circular chromosome. Its main clinical manifestation is refractory epilepsyand behavioral abnormalities, cognitive impairment, characteristic epilepsyThe type of seizure is non-convulsive seizure (including atypical absence or complex partial seizure), most of which are non-convulsive epilepsyContinuous state. It was first reported by Atkins et al. in 1972, and Borgaonkar first proposed this disease as a special genetic syndrome in 1976^[1]。

The first symposium on children's developmental behavior was sponsored by the Developmental Behavior Pediatrics Group of the Pediatrics Branch of Chinese Medical Association and the Child Care Group, and undertaken by the Children's Hospital affiliated to Chongqing Medical University. It was held in the Children's Hospital affiliated to Chongqing Medical University on November 8-9, 2012. 120 representatives from developmental behavioral pediatrics, children's health care, neurology, children's rehabilitation medicine, special education and clinical psychology from 17 provinces and cities across the country attended the meeting. This conference is the first national specialized academic conference after the establishment of the Developmental Behavior Pediatrics Group of the Pediatrics Branch of Chinese Medical Association. Professor Chen Ronghua, consultant of the group, and Professor Zheng Huilian, an old expert in child health care, attended the meeting and delivered congratulatory messages. According to the development level and work needs of developmental behavioral pediatrics in China, the seminar arranged 19 special lectures and 2 case discussions, and conducted multi-dimensional in-depth discussions around the international frontier and clinical hot issues involved in the intersection of developmental behavioral pediatrics, child health care and pediatric neurology. The specific contents are briefly introduced as follows.

Infant feeding is an important subject in the field of pediatric nutrition, which determines the quality of life, nutritional status, growth and development, potential expression and ability acquisition level of infants (children). From the point of view of clinical nutrition, the basic academic concepts, basic research knowledge and appropriate techniques of infant (child) feeding are more important than the explanation of nutrients in public nutrition. Read about the World Health Organization (WHO) Global Strategy on Infant and Young Child Feeding^[1]Combing the evolution of international academic thoughts, combining our basic research and clinical practice for many years, we put forward a family opinion on related issues, in order to contribute to related academic discussions.

The 4th Shanghai International Forum on Neonatal Medicine (The 4^thShanghai Neonatal Forum) was held in Shanghai from April 11 to 14, 2013. The conference was jointly organized by the Key Laboratory of Neonatal Diseases of the Ministry of Health, China Neonatal Cooperation Network, Pediatric Hospital Affiliated to Fudan University, Third Affiliated Hospital of Zhengzhou University, University of Gothenburg in Sweden and Canadian Neonatal Cooperation Network. More than 630 representatives from home and abroad attended the conference. This session invited 29 famous experts and scholars in the field of neonatal medicine from North America, Europe, Oceania and Asia to conduct in-depth exchanges and lively discussions around hot topics such as neonatal brain injury, neonatal digestion and nutrition, and premature infant management. The main contents of the meeting are presented as follows: