2016年 · 第54卷第11期

Since the world's first sibling donor successfully treated a 5-year-old boy with Fanconi anemia in 1989, umbilical cord blood has been recognized by scholars all over the world as an effective source of hematopoietic stem cells. According to the data summarized by the International Center for Blood and Bone Marrow Transplantation (CIBMTR) in 2013, in allogeneic hematopoietic stem cell transplantation (HSCT) cases, the source of peripheral blood stem cells and bone marrow has not changed significantly from 2003 to 2007 compared with 2008 to 2012, while the number of transplants derived from umbilical cord blood has increased from 7% to 12%^[1]。 Japan regards umbilical cord blood transplantation (UCBT) as the first-line choice of allogeneic HSCT, but the situation in China is not optimistic. The scale of UCBT in China and the gap between the research and the world is increasing. Therefore, the Hematology Group of Pediatrics Branch of Chinese Medical Association organized national pediatric blood-related experts and scholars to draw up the "Expert Consensus on Umbilical Cord Blood Transplantation in Children with Hematological Malignancies" (hereinafter referred to as the "Consensus")^[2]We hope that through the joint efforts of everyone, we can improve the clinical efficacy of UCBT in the treatment of malignant diseases in children, promote the healthy development of UCBT in China, and benefit children with malignant diseases in China.

In 1989, the first case of umbilical cord blood transplantation in the world was successful. In the early 1990s, pediatricians in China started the clinical research and practice of umbilical cord blood transplantation^[1,2,3]。 Recent clinical practice has shown that umbilical cord blood has the characteristics of rapid acquisition, low requirement of human leukocyte antigen (HLA) matching, and mild degree of graft versus host disease (GVHD). Umbilical cord blood is not only an effective source of hematopoietic stem cell transplantation, but also the limited volume of umbilical cord blood can meet the needs of children. In order to standardize the indications and transplantation opportunities of umbilical cord blood transplantation in children with hematological malignancies in China, and recommend appropriate umbilical cord blood donors and pretreatment protocols for children with hematological malignancies, the Hematology Group of Pediatrics Branch of Chinese Medical Association referred to the guidelines of American Society of Blood and Bone Marrow Transplantation (ASBMT) on the basis of the recommended protocol of 2010 edition of umbilical cord blood transplantation in children with hematological malignancies under the premise of national pediatric hematopoietic stem cell transplantation registry and multi-center data summary^[4]European Collaborative Group on Bone Marrow Transplantation (EBMT) guidelines^[5]On the basis of, the expert consensus of umbilical cord blood transplantation with Chinese characteristics was formulated.

A 2-month-old male, Han nationality, was admitted to the Affiliated Hospital of Zunyi Medical College on June 17, 2015 because of "pale complexion for 55 days and aggravated for 4 days". In the past 4 days, the child's pale complexion has progressively aggravated, without fever and bleeding. He had anemia and jaundice 5 days after birth, and the blood routine showed that hemoglobin was 80.8 g/L. He was discharged by transfusion of concentrated red blood cells 0.25 U in the neonatal department. The parents were not intimate married, and there were no abnormalities in the family history. The child was the second birth and the first birth, a full-term cesarean section, and was breastfed after birth.

The child was a 4-year-old girl. He went to the First Hospital of Peking University in February 2016 because of "intermittent convulsions for more than 2 years". The child gave birth naturally at term and had no history of asphyxia after birth. The attack occurred for the first time at the age of 13 months without obvious trigger. It was manifested as left oblique eyes, twitching of left limb, closed teeth and purple complexion, which lasted for about 5 minutes. The attack occurred three times within 24 hours, and was not treated. The second episode occurred after an interval of 7 months, and it was still 3 episodes within 24 hours, with the same performance as before, and was treated with topiramate. At the age of 2 years and 2 months, the attack occurred again, with the manifestation of head and eye deviation to one side, without limb twitching, and the attack was not well controlled after topiramate addition. Later, the attacks became gradually frequent, with an average of one cluster of attacks in 1 to 2 months, and frequent attacks within 1 to 2 days, with at most 7 to 8 attacks in 1 day, mostly manifested as one side of the body twitching and occasionally limbs twitching. The combined treatment with topiramate, valproic acid and nitrazepam showed no significant improvement in the frequency and degree of attacks. EEG examination during the period showed anterior head, posterior head and extensive migratory slow wave rhythm (Figure 1)。 The last episode before diagnosis was at 3 years and 10 months of age, with 7 to 8 episodes within 24 hours. There were no abnormalities in blood biochemistry, amino acids and urine organic acid screening. Magnetic resonance imaging (MRI) showed mild insufficiency of myelination of white matter in the posterior horn of bilateral lateral ventricles and mild widening of frontal sulcus. The child can walk at the age of 1 year and 6 months, but still walks unsteadily and falls easily at the age of 4; Poor language expression ability, only able to speak simple words; Poor spirit, dull eyes, less communication. The Gesell developmental assessment (at 4 years of age) showed mild-moderate developmental lag. This time in our hospital, epilepsy with mental retardation (EFMR) was suspected to be limited to women, and epilepsy-related gene package detection was performed. Compound heterozygous mutations of ALDH7A1 gene (NM_001182.4) were unexpectedly detected: c.1279G>C (p.Glu427Gln) and c.986G>A (p.Arg329Lys) (Figure 2), respectively, c.1279G>C is a reported pathogenic mutation, and c.986G>A has not been reported internationally. After conservative and pathogenic analysis, it is considered to be pathogenic, and it is diagnosed as pyridoxine-dependent epilepsy (PDE). Expect to add a large dose of vitamin B after diagnosis₆One episode occurred on the day of treatment, manifesting as right oblique in both eyes, lasting 2 min, and vitamin B was given₆The episodes were controlled after 3 oral doses of 180 mg/d, and there were no clustered episodes that had occurred previously. Vitamin B₆Antiepileptic drugs were gradually discontinued after 1 week of maintenance therapy. Added vitamin B₆The concentrations of piperidinic acid in urine were 2.09 and 1.64 mmol/mol creatinine (normal range: 0.12-3.52 mmol/mol creatinine) before and after 2 months of treatment, respectively^[1]。 Follow-up for 6 months, currently only oral vitamin B₆180 mg/d with no further seizures. Parents complained that the child's mental state was obviously improved, the reaction was faster and the memory was obviously enhanced. Walking becomes steady, rarely falls, can run; Speaking clearly than before, you can communicate easily.

The child was a male, 6 years and 6 months old. Admitted for "low serum potassium found for 7 d". The child was the second birth and the second birth, and it was delivered naturally at full term. One week before the child was admitted to the Department of Nephrology, Nanjing Children's Hospital affiliated to Nanjing Medical University, he was planned to undergo surgical treatment in the Department of Otolaryngology of our hospital due to "tonsil and adenoid hypertrophy". During preoperative routine examination, it was found that the child's blood potassium was 2.54 mmol/L. He was given active potassium supplementation and anti-infection treatment for 5 days, and the blood potassium was 2.84 mmol/L after re-examination. Therefore, he was admitted to the hospital with "the cause of hypokalemia to be investigated". During the course of the disease, the child had no fever, fatigue, convulsions, abdominal pain, vomiting, Nake, sleep peacefully, and no abnormalities in the appearance of urine and stool. The child had a history of repeated constipation before the age of about 2 years (the specific age cannot be described in detail by parents), and was diagnosed with Hirschsprung's disease in another hospital. Colonoscopy pathology showed "intestinal cell agenesis". After anal expansion treatment, the frequency and character of stool are normal.

A 65-day-old male was admitted to Anhui Children's Hospital in November 2015 due to "fever for half a day". The highest body temperature was 39.5℃, no cough, no vomiting, diarrhea, no convulsions, drowsiness, slightly lethargic, and slightly reduced feeding. Outpatient blood routine: white blood cells 2.68×10⁹/L, neutrophil number 0.77×10⁹/L, C-reactive protein (CRP) 4.17 mg/L. History of umbilical infection during the neonatal period (spontaneous remission). The child was the first birth, the first birth, the full term natural birth, the birth weight was 3 250 g, the rescue history of birth asphyxia was denied, mixed feeding, and the vaccine was vaccinated on time, and no adverse reactions were observed. Healthy parents, denying family history of genetic disease and history of inner marriage. Physical examination on admission; Weighing 6 500 g, conscious, slightly lethargic, steady breathing, flat and soft anterior fontanel, about 2 cm ×2 cm, no abnormalities in cardiopulmonary examination, soft and slightly swollen abdomen, slight crying during palpation, weak intestinal sounds, 2 cm under the costs of the liver, soft texture, not under the costs of the spleen, and no positive signs in neurological examination. Abdominal plain X-ray showed stiff intestinal tube, flatulence, and no free gas under the diaphragm.

A 6-year-old child was seen for "mental retardation for 6 years". The child was the second child of the mother, and the mother was pregnant at the age of 34. She denied that she had a history of exposure to toxicants, chemicals and radiation during pregnancy. She had regular prenatal examination during pregnancy, and no abnormalities were found. At 38 weeks after menopause, cesarean section was performed in an emergency department due to fetal heart monitoring suggesting "fetal distress", and amniotic fluid was clear during the operation. The Apgar score of the child was 9-10 after birth. Four days after birth, he was treated with anti-infection due to "infectious jaundice and impetigo". The child could erect his head at more than 3 months of age, but still sat alone at 8 months of age. He was diagnosed as mental retardation and brain hypoplasia in the local hospital. Cranial magnetic resonance imaging (MRI) external hydrocephalus; Developmental assessment: can't turn over, sitting alone is unsteady, and the active grasp with both hands is inaccurate; There were no abnormalities in the electrical response audiometry. He started walking at the age of 1 year and 3 months and could shout "Dad, Mom". He showed strabismus at the age of 2 years and 8 months, with a developmental quotient of 52.6. CT of the head: small frontal lobe volume and local cortical dysplasia. Cardiac color ultrasound showed atrial septal defect, which was not treated by surgery. At present, he can speak simple words, understand simple instructions from his parents, count to 100, be hyperactive at ordinary times and have a bad temper. Denial of stereotypical behavior and history of tics. The parents of the child are in good health, and they once gave birth to a baby boy, who is in good health. Deny history of inbred marriage, deny similar developmental delays in the family.

Leukemia is a common hematological malignancy in children and adults. With the continuous progress of diagnosis and treatment technology, the treatment effect of leukemia in children and adults has been significantly improved. However, recurrence and drug resistance of leukemia have always been difficult problems in clinical treatment. It has been reported that 1 in 5 children with acute lymphoblastic leukemia (ALL) still face the problem of recurrence^[1,2]While the overall survival rate of adult ALL is only 30% ~40%^[3]。 adoptive cellular therapy (ACT) has always been a hot spot in tumor immunotherapy. chimeric antigen receptors (CAR) -modified T (CAR-T) cell therapy, as a novel anti-tumor therapy, has achieved remarkable results in the treatment of refractory leukemia and other hematological malignancies^[4,5,6]And has a good application prospect. The application of CAR-T cell therapy in hematological malignancies in recent years is reviewed.

intrauterine growth retardation (IUGR) infants, also known as small-for-gestational-age infants (SGA), refer to newborns whose birth weight is less than the average birth weight of the same gestational age minus 2 standard deviations or less than the 10th percentile of normal birth weight. Since Barker et al.^[1]Since the first discovery that cardiovascular disease is associated with low birth weight, the hypothesis of fetal origins of adult disease (FOAD) has gained increasing support. The basis of this hypothesis is that the intrauterine and even early postnatal environment may cause permanent changes in physiology and metabolism of the body through "developmental programming", which increases the risk of some adult diseases, such as hypertension, type 2 diabetes, coronary heart disease (CHD), chronic kidney disease, etc.^[2]。 In the renal field, long-term postnatal follow-up found that IUGR was associated with the development of hypertension in adulthood and increased the risk of end-stage renal disease (ESRD) and proteinuria^[3]This paper reviews the effects of IUGR on kidney structure and function and its relationship with kidney disease.

extracorporeal membrane oxygenation (ECMO), as an improved extracorporeal circulation technique, promotes recovery in patients with acute reversible respiratory and/or circulatory failure who are ineffective to traditional therapeutic approaches by replacing lung and/or cardiac function for a long time^[1,2]At present, its effectiveness, safety and economy are basically recognized^[3,4]。 In-hospital transport and inter-hospital transport are an integral part of emergency medicine: patients are transported between in-hospital intensive care unit and imaging diagnosis department, cardiac catheterization department, operating room and other departments (in-hospital transport); Transfer of patients from hospitals that do not qualify for ECMO to more advanced medical centers that qualify for ECMO or between medical centers that qualify for ECMO (inter-hospital transport) through ECMO transport can make patients safer during transport, help maximize the application of medical technology and reduce the mortality rate of critically ill patients transported^[5,6]。 When ECMO is used for the transport of critically ill children, it can completely replace their heart and/or lung function, and it can support the body more strongly than the transport methods such as ventilator and inhaled nitric oxide (NO). There are more than 20 medical centers in the world that carry out ECMO transfer, and the transfer population covers newborns, children and adults. The one-way transfer distance can reach tens of thousands of kilometers, and the patient discharge survival rate is high, which shows the safety and feasibility of ECMO transfer^{[7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23]}Recently, there have been reports that hospitals in China have successfully carried out ECMO inter-hospital transport of critically ill newborns^[24]。 The application of ECMO in the transportation of critically ill children is reviewed from two aspects: inter-hospital and intra-hospital transportation.

From May 5 to 7, 2016, the 2016 National Forum on Pediatric Hematology was held in Suzhou, a famous city with a long history, known as "Su is the head of the heaven on the earth, and Suzhou is the beautiful scenery on earth". The conference was sponsored by the Hematology Group of Pediatrics Branch of Chinese Medical Association, the Editorial Committee of Chinese Journal of Pediatrics and the Journal of Chinese Medical Association, and co-organized by Children's Hospital affiliated to Suzhou University. At 8: 00 a.m. on May 6th, Professor Wang Tianyou, chairman-designate of Pediatrics Branch of Chinese Medical Association and head of hematology group, delivered an opening speech, and Professor Feng Xing, president of Children's Hospital affiliated to Suzhou University, delivered a welcome speech. At this conference, the Hematology Group of Pediatrics Branch of Chinese Medical Association was honored to invite three foreign experts in coagulation and hemophagocytic syndrome, as well as nine leaders in domestic pediatric hematology and oncology to give wonderful special lectures at the conference. Although there was only a short preparation time of more than three months for this conference, 325 papers were received, with wide content and high quality. Children's blood workers from all over the country presented the essence of their clinical and scientific research achievements in 37 conference speeches. Experts and participants, despite their busy work, still have a responsibility and mission to come to lecture and exchange in their busy schedule. The following is an overview of the key points and highlights of the meeting.

Randomization is widely used in clinical research. It refers to the randomization of study subjects into different groups according to the principle of "equal opportunity". Common randomization methods include complete randomization, block randomization, stratified randomization and dynamic randomization.