The development of precision medicine in 21st century has accelerated a new area of medicine,bringing a precise project of diagnosis and treatment.The new techniques for genetic diseases including next generation sequencing and copy number variation detection technology have facilitated the diagnosis and treatment of genetic and rare diseases in children's neural system,providing a new directed therapies especially for creatine deficiency syndromes,pyridoxine dependent epilepsy,glucose transporter type 1 deficiency syndrome,malignant migrating partial seizures in infancy,GRIN2A-related early-onset epileptic encephalopathy,KCNQ2-related epilepsies.With the new area of precision medicine arrival,an epoch-making revolution for the diagnosis and treatment of genetic and rare diseases in children's neural system is coming towards us.

Gut microbiota is essential to human health,playing a major role in the bidirectional communication between the gastrointestinal tract and the central nervous system through the immunological,hormonal,neural and metabolic pathways.The colonization of the gut microbiota is influenced by multiple and diverse factors,such as the perinatal factors,dietary habits,diseases and antibiotics.The infant is the critical period for modifying the gut microbiota,disruptions during this period of microbiota-host interaction have the potential to affect the development and function of the brain.To regulate the homeostasis of the gut microbiota has its profound influences on improving the symptoms of gastrointestinal and behavior disorders.

Vitamin K deficiency is a common problem in neonates and infants,vitamin K deficiency bleeding can be life threatening.There is still a high incidence of vitamin K deficiency even if the prevention by retrospective analysis a large number of the global data.In recent years,with the increase of premature infants,incidence is higher than before,China is the same trend.There is no recognized prevention and treatment measures,and less related research data.Therefore,to carry out related investigation,to provide the basis for clinical prevention and treatment are an urgent task.

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The immense potency of bioactive molecules of human breast milk and importance of breastfeeding is known worldwide.Less attention has been paid on the cellular constituents and properties of breast milk.In the past decade,a research has been done by multidimensional approach to investigat the cells human milk.Technological advances have played an important role in this work,which has resulted in the breakthrough discovery of breast milk stem cells with self renewal and multilineage potentials.Regenerative medicine may benefit from utilizing these cells.Breast milk stem cells are transferred to the offspring during breastfeeding.This contributes substantially to infant health.This review summarizes the current knowledge on the potential of breast milk stem cells,with emphasis on their origin,properties and future applications.

Cerebral palsy (CP) describes a group of disorders of the development of movement and posture,causing activity limitation attributed to disturbances,which occurred in the fetal or infant brain.Early identification and intervention of CP has always been a difficult topic in the research of neuroscience.The intervention should be focused on infants showing early signs of CP.Such signs may be efficiently detected by a combination of neuroimaging and the General Movements Assessment.Besides movements,enriched environments,active participation,parental coaching have benefits to early intervention.In this investigation,the early identification and intervention in cerebral palsy were focused.

Childhood myelodysplastic syndromes(MDS) is a disease with lower incidence and very difficult in clinical diagnosis and treatment.The Chinese expert consensus for the diagnosis and treatment of childhood myelodysplastic syndromes recently recommended by Subspecialty Group of Hematology,the Society of Pediatrics,Chinese Medical Association,is a high academic significance of guidance documents to improve the efficacy of diagnosis and treatment,as well as relevant research of children with MDS in our country.This paper combined with the relevant lite-rature review at home and abroad in recent years and summed up the experience of clinical diagnosis and treatment,in order to contribute the promotion of this consensus of the experts.

Wiskott-Aldrich syndrome (WAS) is due to the mutation of the WAS gene on the X chromosome,which has both features of primary immunodeficiency disease (PID) and congenital hereditary hematopoietic disease.Although the clinical manifestations of classic WAS were more obvious,the related gene (WAS) and its protein product (WASP) have the value of diagnosis,but due to the low incidence,and there were significant differences in the severity of clinical symptoms of the patients,so WAS is easily misdiagnosed.This article through collecting and analyzing the recent years of research progress of literature data and the clinical reports,and combined with the author＇s previous experience in the diagnosis and treatment,to induct the main points of diagnosis and treatment for WAS.

Acquired aplastic anemia (AA) is a rare heterogeneous disease characterized by pancytopenia and hypoplastic bone marrow.The differential diagnosis should always take in account inherited forms of AA,like Fanconi anemia(FA),dyskeratosis-congenita(DC),and Shwachman-Diamond syndrome (SDS).Patient with transfusion-dependent non-severe aplastic anemia(NSAA),with severe AA (SAA) and very severe AA(VSAA),if an human leukocyte antigen (HLA) matched family donor(MFD) is found,then hematopoietic stem cell transplantation (HSCT) using bone marrow (BM) stem cells is the treatment of choice.If a MFD is not available,the immunosuppressive therapy (IST) with the combination of antithymocyte globulin (ATG) plus cyclosporin (CsA) still represents the first line choice.For transfusion-independent NSAA patients,most hematologists suggests no intervention,however,some studies indicate the patients with transfusion-independent NSAA may benefit from IST,and the rate of progression to SAA and transfusion-dependent NSAA is lower than other observation groups.So a multicenter randomized clinical trial is needed.

Rare diseases are very rare,but usually have severe symptoms.Some rare diseases are life-threatening.Most rare diseases cannot be cured.A very small part of these diseases can be cured by hematopoietic stem cell transplantation (HSCT).Umbilical cord blood transplantation(UCBT) is more suitable for children for the weak T cell immunity,the lower request for human leukocyte antigen (HLA) identity type and the lower incidence of graft versus host disease(GVHD).This article reviewed the published data in the treatment of UCBT in primary immunodeficiency disease,inherited metabolic disease,inflammatory bowel disease and bone marrow failure syndrome,in order to improve the level of rare disease treatment by HSCT,especially for UCBT.