2017年 · 第55卷第05期

non-invasive positive pressure ventilation (NPPV), as a suitable auxiliary ventilation technique, has been confirmed by clinical practice, and has become one of the conventional treatment measures for acute and chronic respiratory failure. NPPV in children mainly consists of continuous positive airway pressure (CPAP) and bi-level positive airway pressure (BiPAP). Due to the different conditions of various hospitals, the popularization of NPPV varies greatly. In order to standardize and promote the clinical application of NPPV in children, the Emergency Group of Pediatrics Branch of Chinese Medical Association, the Pediatrics Group of Emergency Medicine Branch of Chinese Medical Association and the Children's Intensive Care Physician Branch of Chinese Medical Doctors Association jointly formulated the "Expert Consensus on Clinical Application of Non-invasive Continuous Positive Airway Pressure in Children" in 2016^[1,2]。 On this basis, in order to further improve the clinical application norms of children's NPPV in China and promote the application and popularization of children's NPPV, the above-mentioned academic organizations once again organized experts to jointly formulate the "Expert Consensus on Clinical Application of Children's Bi-level Positive Airway Pressure"^[3]。

bi-level positive airway pressure therapy (BiPAP) refers to a ventilation mode that provides periodic pressure changes for respiratory support during the respiratory cycle without an artificial airway (tracheal intubation or tracheotomy). Because it does not need to establish invasive artificial airway, it can relieve children's pain and reduce invasive ventilation complications. At present, it has become one of the commonly used auxiliary ventilation techniques in clinic. In order to further promote and standardize the clinical application of BiPAP in children in China, improve the level of respiratory support, and reduce adverse reactions and complications, the Emergency Group of Pediatrics Branch of Chinese Medical Association, the Pediatrics Group of Emergency Medicine Branch of Chinese Medical Association and the Children's Intensive Care Physician Branch of Chinese Medical Physicians Association have formulated this expert consensus with reference to the existing guidelines and clinical research results at home and abroad. This expert consensus applies only to pediatric patients other than newborns for intensive care unit (ICU) applications.

Proband (IV2,Figure 1) male, 8 years old. She was brought to the genetic clinic of the First Hospital of Peking University by her mother for consultation because of "retarded intelligence and motor development accompanied by complicated epileptic seizures". Children with mental and motor development retardation and motor development milestones are lagging behind. They can sit alone at 1 year old and walk alone at 3 years old. At the age of 6, his intelligence test intelligence quotient (IQ) was 55. At the time of seeing a doctor, his language and comprehension ability were obviously behind those of children of the same age. He could only speak simple sentences and understand simple instructions. No behavioral abnormalities, no facial deformities, normal blood pressure, and no history of electrolyte disorders. Children begin to have seizures 10 months after birth, and the frequency of seizures is mostly once every 2 days, sometimes several times a day, and the longest seizure interval is 1 month. The form of epileptic seizures is variable, with more seizures in infancy than just before falling asleep or waking up, mainly tonic-clonic seizures, manifested as loss of consciousness, upward eyes, purple complexion, foaming at the mouth, general clonic, sudden fall, and gradual recovery of consciousness after the seizure stops. There was no remission with oral administration of multiple antiepileptic drugs. Childhood gradually shifts to a waking attack in the form of a localized attack, manifested by a slight trembling of the lips or hands, clear consciousness, no falling, no changes in the eyes, and the ability to talk and walk during the attack. The child was the first birth and the first birth, with a gestational age of 38^＋6Weeks, birth weight 3.0 kg, denied perinatal asphyxia, etc. There were no obvious abnormalities in routine laboratory tests due to multiple hospitalizations due to developmental delay with frequent seizures.

The child, 7 years old, was admitted to hospital for more than 2 years due to repeated fever and abnormal blood image. More than 2 years before admission, the children began to have repeated fever without trigger, which occurred once in about 1 to 2 months, with a fever peak of 2 to 3 times a day for about 1 to 2 weeks. The fever was accompanied by abdominal pain and diarrhea. Blood monitoring routine showed that white blood cells fluctuated (2.59~3.18) ×10⁹/L, neutrophils were (1.3-1.77) ×10⁹/L, and the platelets fluctuated between (79-53) ×10⁹Between/L. In other hospitals, "infection" and "immune thrombocytopenia" were considered, and gamma globulin (1~2 g/kg) and antibacterial drugs were given many times, and the children's body temperature could return to normal; After platelet transfusion treatment, the platelets can rise to normal after re-examination. In the past six months, the child's fever was more frequent than before. In the past two months, there was a fever in 2~3 days, and the fever peak was 2~3 times a day, so he was further diagnosed and treated in our hospital.

A male child, 1 year and 4 months old, was admitted to the hospital due to "poor appetite and abdominal distension for 4 days". The child experienced decreased appetite, abdominal distension, sometimes crying and restlessness, and tears when crying without obvious inducement 4 days ago. The urine is yellow and small. Outpatient abdominal B-ultrasound showed hepatosplenomegaly (oblique diameter of right lobe of liver 111 mm, subcostal margin 67 mm, spleen intercostal thickness 28 mm, subcostal margin 27 mm), and he was admitted to the Department of Gastroenterology, Children's Hospital affiliated to Nanjing Medical University with "the cause of hepatomegaly to be investigated". Birth history: The child was the first birth and first birth, born by cesarean section at term, with a birth weight of 3.3 kg, and no history of birth injury or asphyxia. Breastfeeding after birth, supplementary foods added on time, healthy past, healthy parents, non-relative marriage, no history of hereditary diseases in the family.

A 3-year-old male was admitted to the Children's Hospital affiliated to Nanjing Medical University in May 2013 due to "fever for 1 d, sudden syncope with convulsions for 1 d". The child suddenly developed palpitations and vomiting, accompanied by syncope and convulsions after fever 1 d before admission. Electrocardiogram in the local hospital showed "ventricular tachycardia", which turned to sinus rhythm after intravenous bolus injection of lidocaine. Later, due to repeated ventricular tachycardia, he was urgently transferred to our hospital. Physical examination: body temperature 37.5 ℃, heart rate 130-190 beats/min, 27 breaths/min, blood pressure 65/32 mmHg (1 mmHg =0.133 kPa), confusion, pale complexion, slight shortness of breath. The neck is soft, the breathing sounds of both lungs are thick, and no rales are heard. The heart sounds were slightly low and dull, the heart rhythm was irregular, and no murmur was heard. The abdomen is flat and soft, 3 cm below the right rib of the liver, and the texture is medium. The limbs were slightly cool, and the pathological reflex was not drawn out. Auxiliary examination: cardiac troponin I 1.92 μ g/L. Blood biochemistry: creatine kinase (CK) 148 U/L, creatine kinase isoenzyme (CK-MB) 20 U/L, lactate dehydrogenase (LDH) 274 U/L, potassium 4.65 mmol/L, sodium 125.9 mmol/L, chloride 92.7 mmol/L, ionized calcium 1.0 mmol/L. Electrocardiogram showed: sinus rhythm + junctional rhythm, first degree atrioventricular block, incomplete atrioventricular separation, and short bursts of ventricular tachycardia. Cardiac ultrasound showed that the left ventricular end-diastolic diameter was slightly increased, and left ventricular ejection fraction (LVEF) was 45%. According to the acute onset of the child, which was characterized by severe arrhythmia with Aspen attack, positive cardiac troponin I and left ventricular enlargement, the initial diagnosis was fulminant myocarditis. He was treated with lidocaine, amiodarone and cardioversion successively, but he still had recurrent ventricular tachycardia, so a temporary pacemaker was installed to control the ventricular rate, and methylprednisolone, gamma globulin and nutritional myocardium were given supportive symptomatic treatment, and his condition gradually stabilized. One week later, cardiac ultrasound showed that left ventricular size and systolic function returned to normal, and electrocardiogram showed sinus arrhythmia and intraventricular block. Holter electrocardiogram showed sinus rhythm and occasional premature atrial beats, and was discharged 10 d later.

A male child, 1 year old and 10 months old, was admitted to hospital due to "abnormal liver function for more than 15 months and psychomotor development retardation for more than 10 months". The 7-month-old child developed whole body skin yellowing, and the highest total bilirubin was 194.7 μ mol/L (1.7~17.1 μ mol/L). Direct bilirubin was mainly increased, accompanied by increased transaminases: alanine aminotransferase 1 391 (9~50) U/L and aspartate aminotransferase 664 (15~40) U/L. He went to a local hospital and was given symptomatic treatment such as liver protection, antiyellowing and choleretic. The jaundice was slightly withdrawn and he was discharged from the hospital. Liver function was checked many times, alanine aminotransferase 84~664 U/L, aspartate aminotransferase 164~1 391 U/L, alpha-fetoprotein 49 349.0 (0~13.6) μ g/L, blood ammonia 80 (10~47) μ mol/L, and ceruloplasmin 197 (210~530) mg/L. No abnormalities were observed in previous history and family history. The child was the fourth child and the second birth, full-term cesarean section, denied the history of birth injury and asphyxia, and percutaneous bilirubin increased 3 days after birth, which was not treated regularly. He was 4-5 months old and sat alone at 11 months, and stood up at 1 year old. Physical examination at admission: weight 10 kg, head circumference 47 cm (15th percentile), no abnormalities in appearance, skin and mucosa, heart, lung, abdomen and genital physical examination. Neurological examination: conscious, chasing light, objects and sounds, unstable vertical head, standing and walking, normal muscle strength of limbs, high muscle tone, tendon reflex of both knees can be drawn out, but pathological reflex is not drawn out. At present, I can only pronounce monosyllabic words unconsciously. Auxiliary examination: Liver function: alanine aminotransferase 53.2 U/L, aspartate aminotransferase 90.3 U/L, albumin, bilirubin, total bile acid normal, blood ammonia 40.3 μ mol/L, lactate 5.60 (1.42~1.90) mmol/L, alpha-fetoprotein 962.20 μ g/L, urine copper 26.3 μ g/24 h (normal<100 μ g/24 h), ceruloplasmin 322 mg/L. Coagulation function, fundus examination, abdominal color ultrasound and EEG were normal. Head magnetic resonance imaging (MRI) plain scan + enhancement: bilateral abnormal signal foci in basal ganglia (Figure 1)。 Gesell scale: energy zones lagging behind normal. The audiovisual evoked examination was not completed. Diagnostic considerations after admission: Metabolic liver disease: ① Mitochondrial disease? ② Hitrin protein deficiency to be ruled out.

epilepsy of infancy with migrating focal seizures (EIMFS), previously known as infant migratory partial epilepsy (MPSI) or infant malignant migratory partial seizures (MMPSI), was written by Italian scholar Coppola et al.^[1]First reported in 1995, it was named EIMFS by the International Alliance Against Epilepsy (ILAE) in 2010. This disease is rare, and its clinical and molecular genetic research progress is reviewed.

The 2017 Joint Meeting of Editors-in-Chief of Chinese Journal of Pediatrics was successfully held in Shanghai on January 24, 2017. Professor Yang Xiqiang, Chairman of the Academic Steering Committee, Professor Lu Quan and Professor Zhao Rigetu, Vice Chairmen, and Professor Hu Yiji, Member of the Academic Steering Committee; Honorary Editor-in-Chief Professor Gui Yonghao, Editor-in-Chief Professor Du Junbao, Deputy Editor-in-Chief Professor Du Lizhong, Feng Zhichun, Hong Jianguo, Huang Guoying, Huo Taihui, Li Tingyu, Luo Xiaoping, Mao Meng, Qian Yuan, Song Hongmei, Wang Tianyou and Zhao Zhengyan; Assistant Editor-in-Chief Professor Qian Suyun and Professor Ding Jie attended the meeting; Professor Jiang Yuwu and Professor Huang Ying were entrusted by Professor Lin Qing and Professor Gong Sitang to attend the meeting respectively.

Nomogram refers to a quantitative analysis graph that uses a cluster of disjoint line segments in plane coordinates to represent the functional relationship between multiple variables. Its advantage is that it can directly use graphs to calculate the value of a certain variable, such as the index score or survival probability of patients. It has been used in the medical field for a long time, and the common ones are percentile nomogram and probability nomogram. The percentile nomogram is to determine the percentile of a measured value of an individual index in the population; Probability nomogram is to determine the occurrence probability of a specific event of a certain body, which can be the occurrence, recurrence and prognosis (such as death) of disease, etc., and is often obtained by multi-factor binary regression or COX proportional hazard model. Now we focus on the application, production and verification of probability nomogram (hereinafter referred to as nomogram).