2018年 · 第56卷第04期

The outcome of abnormal developmental regulation during the embryonic period is congenital disease after birth. The common concepts of birth defects, congenital abnormalities, congenital defects and congenital malformations in the literature, as well as those with the same connotation and denotation, all refer to the general terms of various structural and functional abnormalities that exist at birth caused by heredity and/or adverse environment.

Precision medicine refers to a new medical model that comprehensively considers the combined effects of genome, physiological conditions, living habits, personal medical history and living environment to prevent, diagnose and treat diseases. The goal of precision medicine is health management, which can provide more accurate solutions for prediction, prevention, treatment and rehabilitation. At the beginning of 2015, the U.S. government proposed the "Precision Medicine Plan" from the national strategic level, and precision medicine quickly became the focus of the global medical community. In February 2015, General Secretary * instructed the Ministry of Science and Technology and the National Health and Family Planning Commission to set up an expert group on China's precision medicine strategy, formulated a "precision medicine" strategic plan, and included it in the national "13th Five-Year Plan" major science and technology projects. In March 2016, the Ministry of Science and Technology of China announced the national key project of "Precision Medicine Research", focusing on the development of key technologies such as new generation gene sequencing technology, stem cell and regenerative medicine, biomedical big data analysis, and gene therapy, so as to speed up the clinical application of cutting-edge biological therapy technologies and improve the national health level.

The most distinctive in the spectrum of childhood diseases are developmentally related diseases. Each organ or system can play normal physiological functions after birth after experiencing the precise spatiotemporal regulation of signaling pathway network in the embryonic period. The regulation of this development may be interfered by a variety of factors during embryonic pregnancy. If this influencing factor comes from genetic material (chromosome or gene), it is a genetic metabolic disease formed after birth; If non-genetic factors from the outside world or the mother are affected, the stagnation and mutation of fetal development will cause various deformities after birth. This kind of diseases formed during embryonic pregnancy are collectively called birth defects or congenital diseases, which summarize various structural and functional abnormalities at birth caused by heredity and adverse environment.

Breast milk is an ideal natural food for babies. Breastfeeding not only brings many health benefits for mothers and children, but also has important social development significance. Affected by a variety of factors, the current exclusive breastfeeding rate of infants up to 6 months of age is only 37% in low-and middle-income countries, while the duration of exclusive breastfeeding is shorter in high-income countries^[1]。 Although the 1991 "China Child Development Programme" set targets for infant breastfeeding rates that were adjusted every 10 years (80 percent in 2000, 85 percent in 2010, and 50 percent of infants should be exclusively breastfed until 6 months of age in 2020), the United Nations Children's Fund (UNICEF) reported that the exclusively breastfeeding rate of infants up to 6 months of age in China was only 28 percent between 2012 and 2014, with no increase in three years^[2,3,4]。 Increasing breastfeeding rates is essential to promote healthy infant growth and development. Many countries have successively published guidelines or recommendations related to breastfeeding and revised them regularly, such as Australia, the United States, Italy, Canada, Japan, India, etc. Although the existing infant feeding recommendations in China all involve breastfeeding, they focus more on public health education, lack strategies to promote the establishment and effectiveness assessment of breastfeeding, and methods to deal with common problems in the process of breastfeeding, and are insufficiently operational.

It has always been believed that "the fetus is sterile in the uterine cavity", and the initial colonization of intestinal microbes occurs during and after delivery. The initial colonization bacteria of vaginal delivery children mainly originate from the mother's feces, vagina and skin, mainly Acinetobacter, Bifidobacterium, Staphylococcus, Prevotella and Ciliomyces; Cesarean infants originate from contact with the surrounding environment such as the surgical environment, medical equipment and the hands of nursing staff, mainly Citrobacterium, Escherichia coli, Clostridium difficile, Corynebacterium and Propionibacterium. The succession of intestinal microbiota after birth is mainly influenced by feeding mode, environment, drugs, etc. At 1~3 years old, it forms a relatively stable microbiota structure similar to that of adults. In recent years, researchers have isolated microbial DNA from meconium, amniotic fluid and placenta, and proposed that "the initial programmed colonization of intestinal microbes may start in the uterus", which comes from the mouth, intestine, placenta and genitourinary tract of the mother, and is affected by the environment and diseases during pregnancy. Based on the basic and clinical research of neonatal intestinal microbiota in recent years, the origin and influencing factors of intestinal microbiota are analyzed, and the relationship between colonization and succession of intestinal microbiota and the risk of long-term infant disease is discussed.

Whooping cough is a respiratory infectious disease caused by B. pertussis, with a peak epidemic every 2 to 5 years (average 3 to 4 years^[1]。 Surveillance data from developed countries in Europe and America showed that although the incidence of whooping cough decreased significantly after vaccine immunization promotion, its epidemic cycle did not change, indicating that the pathogen was still circulating in the community^[1]。 In recent years, several developed countries with high vaccination rates, such as the United States, the United Kingdom, the Netherlands and Australia, have reported that the incidence of whooping cough has increased again after remaining low for many years, which is called whooping cough recurrence^[2,3], attracted the attention of researchers around the world, and proposed various possible causes of whooping cough recurrence, in order to formulate effective prevention and control strategies. This paper reviews the research progress of whooping cough recurrence, and compares the relevant domestic research, in order to provide ideas for the prevention and control of whooping cough in China.

The etiology of progressive myoclonic epilepsy (PME) includes a group of neurogenetic diseases, which are clinically characterized by myoclonus, multiple types of seizures, progressive neurological regression, and poor prognosis. This group of diseases usually onset in childhood or adolescence, and a small number can also onset in infant and young childhood, accounting for about 1% of adults and children with epilepsy^[1]。 Herman Lundborg first proposed the concept of PME in 1903^[2]。 Diseases that can cause PME include: neuronal ceroid lipofuscinoses (NCL), Unverricht-Lundborg disease (ULD), Lafora disease, sialidosis, myoclonic epilepsy with ragged red fiber (MERRF), dentatorubral-pallidoluysian atrophy (DRPLA), neurotype Gaucher disease^[1]。 In the early stages of PME, clinical and EEG features may resemble idiopathic generalized epileptic syndromes, especially juvenile myoclonic epilepsy, but treatment failure, progressive neurological symptom exacerbation, and EEG findings all point to PME diagnosis^[1]。 With the progress of molecular genetics research, it has been found that a variety of gene mutations can lead to PME phenotype in recent years, which has improved the understanding of PME etiology, and provided an important basis for accurate diagnosis, prognosis and genetic counseling of PME.

In clinical research, we often encounter the problem of finding the optimal tangent point of a continuous variable. For example, to detect a certain continuity index x of patients in groups A and B, the researcher wants to find an optimal cut-off value μ (cut-off value). If it is greater than μ, it is considered positive, which can show the greatest difference in the positive rate in groups A and B. At this time, the positive rate of groups A and B is easier to detect and the difference is statistically significant, and it is more convenient to apply in clinical work.