2018年 · 第56卷第10期

Thalassemia (thalassemia for short) is a hereditary hemolytic anemia caused by abnormal globin gene, resulting in reduced globin chain synthesis. Children with beta thalassemia major are progressively aggravated after birth, and it is difficult to live to adulthood without effective intervention. About 23,000 children with beta-thalassemia major are born worldwide every year^[1]。 Areas with high incidence of thalassemia in China include Guangxi, Guangdong, Guizhou, Yunnan, Hainan, Sichuan, Chongqing and other provinces, municipalities and autonomous regions. In recent years, although the prevention and control of thalassemia in China has made great progress, there is still an obvious gap compared with the advanced countries in the world. A considerable number of children with beta-thalassemia major are born every year in high-incidence areas, which has become a social public health problem in these areas. Now, some thoughts and suggestions are put forward on the current situation and treatment progress of beta-thalassemia major in China and how to improve the prevention and control level of beta-thalassemia major.

Beta thalassemia (abbreviated as beta thalassemia) is a common hereditary hemolytic anemia in clinic. According to statistics, about 1.5% of the world's population carry the gene of beta thalassemia (80-90 million people), and at least tens of thousands of children with beta thalassemia major are born every year, which has become a global public health problem^[1]。 In the 1980s, the results of hemoglobinopathy survey in 600,000 people in 20 provinces, municipalities and autonomous regions of China found that the prevalence of beta thalassemia was about 0.67%^[2]。 Guangdong, Guangxi, Fujian, Hunan, Yunnan, Guizhou, Sichuan, Hong Kong and Macau are all areas with high incidence of beta thalassemia, with an average prevalence rate of about 2%.

The child was a 13-year-old male. He was admitted to the Department of Children's Critical Care Medicine, Yuying Children's Hospital, the Second Affiliated Hospital of Wenzhou Medical University due to "fever and cough for 9 days, fatigue and shortness of breath for 3 days". The child had sudden high fever at home without obvious trigger 9 days before admission, body temperature fluctuated from 38 to 39 ℃, accompanied by paroxysmal cough, which was not severe, phlegm was not easy to pull out, no wheezing, shortness of breath, no cyanosis, took "ibuprofen" and infused antibacterial drugs (details unknown) in the local clinic, body temperature repeated, cough did not improve, fatigue 3 days before admission, inability to exercise strenuously, slow to go up the stairs, accompanied by shortness of breath, loss of appetite, no sweating, no chest tightness, palpitations, no epistaxis, went to a local people's hospital for blood routine + C-reactive protein (CRP) and chest X-ray showed abnormalities, so he came to our hospital and was admitted to hospital with "severe pneumonia". Since the disease, the child has clear consciousness, poor mental appetite, poor sleep, normal stool and low urine output. The child was in good health in the past and denied the history of exposure to infectious diseases such as tuberculosis. The mother of the child was in good health during pregnancy, and the child delivered naturally at full term. The history of birth injury and asphyxia was denied, and the birth weight was 3.0 kg. Breastfed until 2 years old after birth, has been thin, poor physique (specific unknown), now in the first grade of junior high school, average grades.

A 29-hour-old male was hospitalized in the Children's Hospital of Suzhou University in July 2017 due to 29-h postnatal cyanosis. The child was the first birth of the mother, with a gestational age of 37⁺²Weeks, born naturally, birth weight 2 650 g. There were no abnormalities in birth history and maternal pregnancy. The child developed perioral cyanosis after birth, but the parents did not pay attention to it. About 18 hours after birth, the local hospital was given "continuous positive pressure ventilation (CPAP) assisted ventilation, ceftriaxone anti-infection, vitamin K₁The treatment was not relieved after treatment, and the percutaneous oxygen saturation was about 0.77. For further diagnosis and treatment, he was transferred to our hospital. The parents were not close relatives, and the family had no history of cyanosis-related diseases.

The child was a male, 19 months old. In October 2017, he went to the pediatric clinic of the People's Liberation Army General Hospital due to "intermittent nodding and hugging attacks for more than 1 year". The child at the age of 190 days had convulsive attacks, which were manifested as upward eyes and strings of nodding and hugging attacks, 5-10 times/string, 5-8 strings/d. The EEG of the local hospital showed "high dysrhythmia" and was diagnosed as "infantile spasm". He was treated with levetiracetam. He was treated with adrenocorticotropic hormone (ACTH) (25 U/d, 14 d, intravenous drip) at the age of 7 months (23 d of onset). The attack was controlled on the fourth day of medication. After stopping the drug, he continued oral levetiracetam and amhexenoic acid combination therapy. The 9-month-old child had a recurrence of attacks, which was manifested as blinking, nodding and hugging in strings, 7-8 times/string, 3-4 strings/d, and occasionally falling. Reexamination of EEG showed "atypical high irrhythm", and the number of attacks was slightly reduced after the addition of topiramate. At the age of 19 months, he came to our hospital for treatment because he still had attacks with developmental delay. No abnormalities were observed in previous history and family history. The child was the first birth of her mother. Born at full term, birth weight 2 800 g, Apgar score 1 min 10. Looking up at 3 months, turning over at 4 months, sitting at 6 months, climbing at 11 months, not standing. Before the onset of the disease, the eyes were normal to laugh. Physical examination: weight 14.5 kg, head circumference 48 cm, clear consciousness. Children chase people to laugh, can sit, can't walk alone, no language communication, will grab a lot of things. The muscle strength and tone of the limbs were normal, the bilateral Pap sign was negative, and the bilateral knee reflex was normally drawn out. Pull up reflex positive. Heart, lung and abdomen examinations showed no abnormalities. Auxiliary examinations: (1) No abnormalities were found in the amino acid and acyl carnitine profiles of genetic metabolic diseases and urine organic acids. (2) Video EEG: "Atypical high arrhythmia, several spastic and atonic attacks detected" (Figure 1）。 (3) Cranial magnetic resonance imaging (MRI): right occipital lobe megalencephaly gyrus and left temporoparietal lobe multimicrocerebellar gyrus (Figure 2）。 (4) Cranial positron emission computed tomography (PET) -MRI showed that bilateral parieto-occipital cortex metabolism was reduced (Figure 2）。 (5) Single nucleotide polymorphism microarray: no abnormalities were found in normal or sex chromosome aneuploidy, fragment deletion, duplication, single parent disomy, etc. (6) Medical whole exome detection (Figure 3): compound heterozygous mutation of LAMC3 gene (located on chromosome 9), parent: exon 13, c.2263T>C, p.C755R, missense mutation, suspected pathogenic variant. Maternal: Exon 21, c.3627C>T, p.D1209D, cleavage site mutation, suspected pathogenic variant (Figure 3）。 Diagnosis after admission: infantile spasticity, LAMC3 gene-associated encephalopathy.

The child is a male, 2 years and 8 months old, Han nationality. He was admitted to hospital due to "confirmed Crohn's disease" for 2 years and anti-fungal lung infection treatment for half a year, but the effect was not good. Two years ago, that is, 8 months after the child was born, perianal ulcer was found, accompanied by purulent secretion outflow. He was diagnosed as perianal abscess in the local hospital, and perianal incision and drainage were given. After that, he had repeated diarrhea, 6~7 times/d, and the diarrhea was paste-like purulent and bloody stool, accompanied by fever. He was given anti-infective symptomatic supportive treatment, but the symptoms did not improve. One year ago, I went to a tertiary hospital in other places for colonoscopy and intestinal pathological biopsy, which showed inflammatory changes in granuloma, and was diagnosed as "Crohn's disease". I was treated with "5-aminosalicylic acid" and "prednisone" for more than 20 days, but the pus and blood were not relieved. He was transferred to another tertiary hospital for hospitalization, and the colonoscopy was still diagnosed as "Crohn's disease". After being treated with "phthalaminoperidone, prednisone, cefminol", the fever, pus and blood improved and he was discharged, but the perianal abscess still appeared repeatedly. Six months ago, a 1.0 cm ×1.5 cm abscess appeared on the right lower leg of the child, accompanied by repeated fever and shortness of breath. He went to a hospital in other places again. Chest CT showed pulmonary infection. Considering the possibility of fungal infection, he was treated with "voriconazole", and the fever improved and he was discharged. Three months ago, due to "Crohn's disease, pulmonary fungal infection", I was admitted to the respiratory department of Shenzhen Children's Hospital according to the agreement for antifungal infection treatment. The fungal dextran was checked at 236.38 ng/L, and I was given intravenous drip of voriconazole for 1 week. I was discharged from the hospital in a stable condition. Voriconazole was administered orally in the outpatient clinic. Before this admission, the thoracic CT was re-examined, and the recovery of the lesions was not satisfactory, so I was admitted again. The child was the second and first birth of the mother, born naturally at full term, with a birth weight of 3 kg. The child was generally healthy from the age of 8 months after birth, and his parents and younger brother were in good health.

The 4-year-old child was admitted to the Third Hospital of Peking University in May 2017 due to "fever and diarrhea for 11 days". The child developed fever and diarrhea after going out to play 11 days ago, the maximum body temperature was 39 ℃, and the stool was dark green and watery, without mucus, pus and blood, 10 times/d, the amount was small. He went to a hospital and examined the white blood cell count (23.7~26.3) ×10⁹/L, neutrophils 0.781~0.803, C-reactive protein (CRP) 12.0~27.3 mg/L, fecal white blood cells and occult blood positive, considering "pediatric diarrhea disease", fever and diarrhea were alleviated after treatment with cefixime and bifidobacterium triple live bacteria tablets. Three days ago, the child had no obvious trigger of fever and aggravation of diarrhea, the highest body temperature was 39.8℃, and the stool was yellow and loose, 1 to 2 times/d, without mucus, pus and blood, accompanied by sore throat. He went to an external hospital and was treated with ceftriaxone sodium and xiyanping for 3 days without improvement, so he came to our hospital for treatment. The child was born naturally at full term, with previous physical health, no obvious abnormalities in growth, development and family history.

juvenile idiopathic arthritis (JIA) is a common connective tissue disease in childhood. It is characterized by chronic arthritis, accompanied by systemic involvement of multiple systems, and is the primary cause of childhood disability. The most common extraarticular manifestation of JIA is uveitis, especially anterior uveitis (also known as iritis or iridocyclitis), or juvenile idiopathic arthritis-associated uveitis (JIA-U). JIA-U is an anterior uveal, non-granulomatous, chronic inflammatory eye disease with occult manifestations and may be without any symptoms. uveitis has been reported in up to 38% of children with JIA, with a common incidence of 10% to 20%^[1,2,3,4,5]About 80% are bilateral diseases^[6,7]Ocular complications such as cataract, glaucoma, ribbon keratopathy, adhesions, vision loss and even blindness occur in up to 37% of children, especially when diagnosis is delayed or treatment is inadequate^[8,9,10]。 Due to its potential risk of vision-threatening complications and sequelae, understanding JIA-U and its risk factors for poor prognosis is crucial to prevent the occurrence of severe visual impairment and complications. The pathogenesis of JIA-U, risk factors for uveitis and severe poor visual prognosis are reviewed.

Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders characterized by social interaction (communication) disorders, repetitive stereotypical behaviors, and narrow interests^[1]。 In recent years, the prevalence rate has gradually increased. According to the data of the U.S. Centers for Disease Control and Prevention in 2015, the prevalence rate of ASD has reached 1/45. Domestic systematic review studies show that the prevalence rate is 26.6/10,000^[2]。 A large number of previous studies have found that children with ASD are more likely to have sleep problems than normal children^[3]This appears to be its inherent characteristic, but the mechanism of occurrence is unknown. Sleep problems may have adverse effects on physical development, emotion regulation, repetitive stereotypical behavior, hyperactivity, memory, attention, abstract reasoning and so on in ASD children^[4,5]。 Therefore, the presentation forms, potential causes and intervention methods of sleep problems in children with ASD are reviewed.

The respiratory tract of healthy babies is colonized by a variety of bacterial communities that make up the respiratory flora. Most of them are "symbiotic bacteria" without pathogenic effects, and also include so-called "pathogenic symbiotic bacteria" such as Streptococcus pneumoniae, Haemophilus influenzae, Staphylococcus aureus and Moraxella catarrhalis. These bacteria colonize the respiratory mucosa in early infancy and usually do not cause any clinical symptoms, but bacterial invasion can occur when the homeostasis of the airway mucosa changes and abnormal local inflammatory response^[1]。 Respiratory infectious diseases caused by these pathogenic bacteria are still one of the leading causes of infant death.

Sponsored by the Editorial Committee of Chinese Journal of Pediatrics, the Neonatology Group of Pediatrics Branch of Chinese Medical Association and the Journal of Chinese Medical Association, and co-organized by Pediatrics Branch of Jiangsu Medical Association, the 2018 National Neonatal Academic Conference was held in Nanjing, Jiangsu Province from June 28 to 30, 2018. Professor Du Lizhong, head of the Neonatology Group of Pediatrics Branch of Chinese Medical Association, delivered the opening speech. More than 1,000 representatives from all provinces and cities across the country registered to attend the conference.

The sample size estimation in the design phase of clinical research is an essential process. For prospective studies, the results of sample size estimation directly determine the feasibility of the study, and it is also an important ethical requirement. For retrospective studies, the sample size estimation results can optimize the workload and get the desired research results with as little effort as possible. Three parts of key information are required to ensure the reasonableness of sample size estimation: (1) the statistical methods used in the analysis of the core conclusions of the study; (2) Specific indicators (variables) involved in the analysis of core conclusions; (3) The expectation of the distribution characteristics of the core indicators that will be collected. Only when three information are correct at the same time, the rationality of sample size estimation can be guaranteed.