Objective To study the changes in serum autophagy markers in children with retinopathy of prematurity(ROP)and its clinical value.Methods Premature infants who were screened for ROP in our hospital from January 2020 to December 2022 were selected as the study subjects.Those screened out with ROP at 4-6 weeks of birth were assigned to the ROP group and those without ROP to the control group.The levels of serum autophagy markers LC3-Ⅱ,Beclin-1 and P62 were detected at the 3rd day,1st,2nd and 3rd weeks of birth.The two groups were compared in terms of serum autophagy markers.The diagnostic efficacy of serum autophagy markers on ROP was analyzed.Results There was no significant difference in serum LC3-Ⅱ,Beclin-1 and P62 levels between the ROP group and control group at the 3rd day of birth(P>0.05).At the first,second and third weeks of birth,how-ever,the ROP group showed significantly lower levels of serum LC3-Ⅱ and Beclin-1 but higher level of P62 com-pared to the control group(both P<0.05).The levels of serum LC3-Ⅱ,Beclin-1 and P62 at the first,second and third weeks of birth had diagnostic value for ROP.The children in the ROP group who did not receive mechanical ventilation and oxygen inhalation,and did not develop with sepsis and bronchopulmonary dysplasia showed lower serum LC3-Ⅱ and Beclin-1 levels and higher P62 levels at the first,second and third weeks of birth compared to those without the above-mentioned treatment as well as those complications(all P<0.05).In the ROP group,those with severe ROP showed lower serum LC3-Ⅱ and Beclin-1 levels and higher P62 levels at the 3rd day,and 1st,2nd and 3rd week of birth(all P<0.05).Conclusion The levels of serum autophagy markers in children with ROP show significant changes since the first week of birth,so they have diagnostic efficacy for the diseases.

Objective:To summarize the clinical and prognostic features of children with opsoclonus-myoclonus-ataxia syndrome (OMAS).Methods:A total of 46 patients who met the diagnostic criteria of OMAS in the Department of Neurology, Beijing Children′s Hospital from June 2015 to June 2023 were retrospectively analyzed. Centralized online consultations or telephone visits were conducted between June and August 2023. The data of the children during hospitalization and follow-up were collected, including clinical manifestations, assistant examination, treatment and prognosis. According to the presence or absence of tumor, the patients were divided into two groups. The chi-square test or Mann-Whitney U test was used to compare the differences between the two groups. Univariate Logistic regression was used to analyze the factors related to OMAS recurrence and prognosis. Results:There were 46 patients, with 25 males and the onset age of 1.5 (1.2, 2.4) years. Twenty-six (57%) patients were diagnosed with neuroblastoma during the course of the disease, and no patients were categorized into the high-risk group. A total of 36 patients (78%) were followed up for≥6 months, and all of them were treated with first-line therapy with glucocorticoids, gammaglobulin and (or) adrenocorticotrophic hormone. Among the 36 patients, 9 patients (25%) were treated with second-line therapy for ≥3 months, including rituximab or cyclophosphamide, and 17 patients (47%) received chemotherapy related to neuroblastoma. At the follow-up time of 4.2 (2.2, 5.5) years, 10 patients (28%) had relapsed of OMAS. The Mitchell and Pike OMS rating scale score at the final follow-up was 0.5 (0, 2.0). Seven patients (19%) were mildly cognitively behind their peers and 6 patients (17%) were severely behind. Only 1 patient had tumor recurrence during follow-up. The history of vaccination or infection before onset was more common in the non-tumor group than in the tumor group (55%(11/20) vs. 23%(6/26), χ2=4.95, P=0.026). Myoclonus occurred more frequently in the non-tumor group (40%(8/20) vs. 4%(1/26), χ2=7.23, P=0.007) as the onset symptom. Univariate Logistic regression analysis showed that the tumor group had less recurrence ( OR=0.19 (0.04-0.93), P=0.041). The use of second-line therapy or chemotherapy within 6 months of the disease course had a better prognosis ( OR=11.64 (1.27-106.72), P=0.030). Conclusions:OMAS in children mostly starts in early childhood, and about half are combined with neuroblastoma. Neuroblastoma in combination with OMAS usually has a low risk classification and good prognosis. When comparing patients with OMAS with and without tumors, the latter have a more common infection or vaccination triggers, and myoclonus, as the onset symptom, is more common. Early addition of second-line therapy is associated with better prognosis in OMAS.

The report described one case of vascular paralysis syndrome during kidney transplantation to provide references for clinical practice.After intraoperative opening of kidney artery and vein, the recipient developed vascular paralysis syndrome.However, the efficacy is not obvious after dosing of norepinephrine.After an intravenous infusion of methylene blue, the recipient has a successful removal of tracheal intubation and recovered well.

Objective:To evaluate the effect of esketamine on postoperative acute lung injury (ALI) in pediatric patients undergoing living donor liver transplantation.Methods:Sixty pediatric patients of either sex with biliary atresia, aged 0-36 months, of American Society of Anesthesiologists Physical Status classification Ⅰ-Ⅲ, with cardiac function grade I or Ⅱ, with Child-Pugh grade B or C, undergoing living donor liver transplantation, were divided into 2 groups ( n=30 each) using a computer-generated table of random numbers: control group (group C) and esketamine group (group S). Combined intravenous-inhalational anesthesia was performed with propofol and sevoflurane in both groups, and in addition esketamine was intravenously infused continuously after induction in group S. After anesthesia induction (T 0), at 60 min after start of surgery (T 1), at 10 min after anhepatic phase (T 2), at 60 min after portal vein opening (T 3), and immediately after abdominal closure (T 4), central venous blood samples were collected for determination of the serum concentrations of Clara cell secretory protein 16, surface active protein D, soluble receptor for advanced glycation end-products, high mobility group protein B1, interleukin-1beta and tumor necrosis factor-alpha (using enzyme-linked immunosorbent assay), concentrations of malondialdehyde (using TBA method), and activity of superoxide dismutase (using hydroxylamine method). The dynamic lung compliance was recorded from T 0 to T 4. Blood samples were taken from the radial artery at T 0 and 24 h after surgery (T 5) for blood gas analysis, and oxygenation index and respiratory index were calculated. Lung ultrasound scores were recorded at 24 h before surgery and T 5. The postoperative mechanical ventilation time and duration of intensive care unit stay were recorded. The occurrence of ALI within 7 days after liver transplantation was observed. Results:Compared with group C, the serum concentrations of Clara cell secretory protein 16, surface active protein D, soluble receptor for advanced glycation end products, high mobility group protein B1, interleukin-1beta, tumor necrosis factor-alpha and malondialdehyde were significantly decreased, and the activity of superoxide dismutase was increased at T 3, 4, the oxygenation index was increased and respiratory index was decreased at T 3-T 5, lung ultrasound C score and B score were decreased at T 5, the postoperative mechanical ventilation time and duration of intensive care unit stay were shortened, and the incidence of ALI was decreased in group S ( P<0.05). Conclusions:Esketamine can alleviate postoperative ALI in pediatric patients undergoing living donor liver transplantation.

Objective:To compare the effects of different anesthesia methods on perioperative lung injury in pediatric patients with biliary atresia undergoing living donor liver transplantation.Methods:Ninety-one American Society of Anesthesiologists Physical Status classification Ⅰ-Ⅲ pediatric patients with biliary atresia, regardless of gender, aged 0-36 months, with cardiac function grade of Ⅰ or Ⅱ and Child-Pugh grade of B or C, undergoing elective living donor liver transplantation, were selected. According to the anesthesia method, the pediatric patients were divided into 3 groups: propofol-based anesthesia group (P group, n=30), sevoflurane-based anesthesia group (S group, n=30) and propofol-sevoflurane-based anesthesia group (PS group, n=31). Group P received intravenous infusion of 1% propofol 9-15 mg·kg -1·h -1. In group S, sevoflurane was inhaled and the end-tidal concentration was maintained at 2.6%-4.0%.In PS group, 1% propofol 9-15 mg·kg -1·h -1 was intravenously infused and sevoflurane was inhaled, maintaining an end-tidal concentration at 1.0%-2.5%. Remifentanil 0.1-1.0 μg·kg -1·min -1 was intravenously infused during operation for analgesia, and cisatracurium besylate 1-2 μg·kg -1·min -1 was intravenously infused to maintain muscle relaxation in three groups. Immediately after anesthesia induction (T 0), at 60 min after start of surgery (T 1), at 10 min of anhepatic phase (T 2), at 60 min after portal vein opening (T 3), and immediately after abdominal closure (T 4), the concentrations of serum Clara cell secretory protein 16 (CC16), surfactant protein (SP-D), soluble receptors for advanced glycation end products (s-RAGE), high mobility group protein B1 (HMGB1), tumor necrosis factor-alpha (TNF-α) and interleukin-1beta (IL-1β) were measured using enzyme-linked immunosorbent assay method, and lung compliance (Cdyn) was simultaneously recorded. At T 0-T 4 and 24 h after surgery (T 5), the arterial blood gas analysis was performed to calculate the oxygenation index (OI) and respiratory index (RI). Lung ultrasound scores (LUS scores) were assessed at 24 h before surgery and T 5. The occurrence of pulmonary complications was recorded within 7 days after surgery. The survival was observed for 6 months after surgery. Results:There were no statistically significant differences in serum concentrations of CC16, SP-D and s-RAGE concentrations and LUS scores at different time points between group S and group P ( P>0.05). Compared with S group and P group, the serum CC16 concentrations at T 3 and s-RAGE concentrations at T 3, 4 were significantly decreased, and the C and B scores were decreased at T 5 in PS group ( P<0.05). There were no statistically significant differences in the concentrations of serum HMGB1, IL-1β and TNF-α, Cydn and incidence of ALI/ARDS, pulmonary infection, pleural effusion, and atelectasis within 7 days after surgery among the three groups( P>0.05). The 6-month survival rate was 100% in the three groups. Conclusions:Propofol-sevoflurane-based anesthesia has a better efficacy in reducing perioperative lung injury than propofol-based anesthesia and sevoflurane-based anesthesia in the perioperative period of liver transplantation.

Objective:To summarize the clinical characteristics of children with dystonia 28 (DYT28) caused by KMT2B gene variations so as to improve clinicians′ understanding of the disease. Methods:The clinical manifestations, treatment and gene variation data of 11 children with DYT28 caused by KMT2B gene variations were retrospectively collected and analyzed.The subjects were recruited from the Department of Neurology, Beijing Children′s Hospital, Capital Medical University from March 2018 to January 2021.The patients were followed up. Results:There were 8 males and 3 females.The age at onset was ranging from 1 month to 6 years without inducement.Eight cases were gene-ralized dystonia and 3 cases were multifocal dystonia.The initial symptoms of 7 cases were unilateral or bilateral lower limbs tiptoeing.Four cases presented dysarthria, retching or swallowing difficulties at onset.As the disease progressed, all the cases had laryngeal dystonia, 10 cases had lower limbs dystonia, and 8 cases had upper limbs dystonia.Six cases were complicated with other dyskinesia symptoms.Ten cases had varying degrees of short stature, microcephalus, micrognathia, musculoskeletal abnormalities, intellectual disability, endocrinopathies and sleep difficulties.The brain magnetic resonance imaging showed abnormal in only 1 case.Eleven KMT2B gene pathogenic variants were found, including 8 frameshift variants, 1 in-frame variant and 2 missense variants.Four variants were novel.Eleven cases were followed up at the age of 1 year and 7 months to 17 years and 9 months.One case wasn′t given therapy.The dystonia in 3 cases was mildly improved after medication.Dysfunction of urination and defecation was disappeared in 1 case after medication.The symptom of 6 cases had no improvement after drug therapy.Among the above 6 cases, 5 drug refractory cases had deep brain stimulation, and their dystonia symptoms are all obviously improved; 2 cases had normal control of urination and defecation after deep brain stimulation.The motor scores in the Burke-Fahn-Marsden dystonia rating scale were improved by 55.8%-90.7%, and the disability scores were improved by 14.8%-69.6%. Conclusions:DYT28 caused by KMT2B gene variations is one of the most common and early-onset genetic dystonia in children.The dystonia symptom progresses from local parts to the whole body, prominently involving laryngeal muscles and lower limbs.Control of urination and defecation requires attention.Patients with mild dystonia symptoms can be effectively treated by drugs.However, patients with severe dystonia symptoms were drug refractory, and their dystonia symptoms can be effectively improved by deep brain stimulation.

AIM: To study the effect of growth hormone (GH) and vitamin E (Vit.E) combined in the treatment of endometrial thinning. METHODS: Twenty female SD rats were randomly divided into four groups: control group, model group, GH group and treatment group, with 5 rats in each group. Control group was routinely fed; Rats in model group, GH group and treatment group were injected intrauterine with 95%ethanol during estrus stage to construct a thin endometrial model. Six to eight hours after operation, rats in model group were injected intrauterine with 0.2 mL normal saline, rats in GH group and treatment group were injected with the same amount of GH, and the treatment group was given intragastric treatment of 60 mg/kg Vit.E. The rats were sacrificed 3 estrus cycles (about 2 weeks) after the operation. HE staining was performed on the uterine tissue to identify the model, and the levels of Cytokeratin 19 and Vimentin in the endometrium were detected by immunohistochemical color. RESULTS: The endometrial thickness of the model group was significantly thinner than that of the model group, and the endometrial thickness of the treatment group was significantly higher than that of the control group, but the endometrial thickness of the GH group was slightly lower than that of the control group. The expression levels of keratin and vimentin in model group were lower than those in GH group, control group and treatment group, and the differences were statistically significant. CONCLUSION: Endometrial-related proliferation indexes were significantly increased after GH and vitamin E treatment, and GH and vitamin E could effectively promote the proliferation of endometrial cells.

Osteoporotic thoracolumbar fracture in the elderly will seriously reduce their quality of life and life expectancy. For osteoporotic thoracolumbar fracture in the elderly, spinal reconstruction is necessary, which should comprehensively consider factors such as the physical condition, fracture type, clinical characteristics and osteoporosis degree. While there lacks relevant clinical norms or guidelines on selection of spinal reconstruction strategies. In order to standardize the concept of spinal reconstruction for osteoporotic thoracolumbar fracture in the elderly, based on the principles of scientificity, practicality and progressiveness, the authors formulated the Clinical guideline for spinal reconstruction of osteoporotic thoracolumbar fracture in elderly patients ( version 2022), in which suggestions based on evidence of evidence-based medicine were put forward upon 10 important issues related to the fracture classification, non-operative treatment strategies and surgical treatment strategies in spinal reconstruction after osteoporosis thoracolumbar fracture in the elderly, hoping to provide a reference for clinical treatment.

Objective:To analyze the clinical and imaging features of influenza associated encephalopathy(IAE) in children, thus contributing to enhance the efficacy of early identification, timely treatment and prognosis.Methods:Clinical data, laboratory examination, imaging data, treatment and outcomes of 40 children with IAE diagnosed and treated in the Beijing Children′s Hospital, Capital Medical University from December 2016 to January 2020 were retrospectively analyzed.Clinical features were summarized and they were further classified according to clinical imaging features.The prognosis was compared and analyzed.Results:A total of 20 boys and 20 girls were recruited, with the age of attending hospital at (4.0±2.3) years (median, 3.2 years). There were 28 children with influenza A and 12 with influenza B. All children initially had fever, and the interval between fever and symptoms of neurological onset was 24 hours (0-120 hours). The most-common symptom of neurological onset was seizures(32 cases), among which 17 patients showed continuous seizures.All children presented encephalopathy at varying degrees, including 33 cases in coma and 7 in drowsiness or cognitive decline.Thirty cases developed central respiratory failure and received mechanical ventilation.Examination results showed 30 cases had elevated aspartate transaminase (AST), 18 cases had elevated alanine transaminase (ALT), 14 cases had elevated creatinine, 31 cases had elevated lactate dehydrogenase, 16 cases had elevated blood glucose and 1 case had significantly lowered blood glucose.Blood ammonia testing was performed in 38 children and 9 cases had elevated level.The whole exon sequencing in 6 cases showed de novo heterozygous mutation of the SCN1A gene in 1 case, and heterozygous mutation of the ATP1A2 gene inherited from the mother in another case.Lumbar puncture was performed in 35 cases, and all of them had a normal range of cerebrospinal fluid leukocyte counts, while 12 cases had elevated cerebrospinal fluid proteins.Abnormal image findings were examined in 33 cases and the acute necrotizing encephalopathy was the most common one (14 cases). All children received Peramivir or Oseltamivir after admission.A total of 28 cases were treated with glucocorticoids, and 29 cases were treated with immunoglobulin.Seventeen cases died, 9 cases had disability at varying degrees, and 14 cases recovered to the baseline.Patients were divided into good prognosis group and poor prognosis group.(1) Patients in good prognosis group presented significantly shorter interval between fever and first neurological symptoms[(22.7±12.2) h vs.(38.6± 30.9) h], higher Glasgow score on admission[(7.6±2.5) points vs.(4.5 ± 1.6) points], lower ALT [15.6 (9.0-1 631.5) U/L vs.140.2 (12.3-3 232.4) U/L] and lower AST [47.6 (25.4-1 721.3) U/L vs.251.8 (21.7-4 991.6) U/L] than those in poor prognosis group (all P<0.05). (2) Glucocorticoids were applied to 17 and 11 cases in good prognosis group and poor prognosis group, while immunoglobulins were applied to 17 and 12 cases, respectively ( P>0.05). (3) Patients were further classified into cytokine storm group, excitotoxicity group and unclassifiable group according to clinical imaging findings.The Glasgow score [ (4.6±1.7) points vs.(7.6±2.2) point vs.(7.3±2.8) points] and median modified Rankin Scale score (6.0 points vs.1.5 points vs.0) were significantly different among 3 groups (all P<0.01). Conclusions:Influenza associated encephalopathy is common in infants and young children.Fever, convulsions and rapidly progressing disturbance of consciousness are the most common clinical manifestations.Acute necrotizing encephalopathy is the most common subtype of clinical imaging syndrome.Acute onset and rapid progression predict the poor prognosis of influenza associated encephalopathy.

Objective:To summarize the clinical characteristics and genetic features of tyrosine hydroxylase deficiency(THD) caused by TH gene variants for the improvement of the understanding of the disease. Methods:The clinical and genetic data of 33 children with THD caused by TH gene variants were diagnosed in the Department of Neurology of Beijing Children′s Hospital, Capital Medical University from May 2011 to January 2020 and their data were retrospectively collected and analyzed. Results:There were 19 females and 14 males.The age at onset was ranged from 0 to 6.3 years.13 patients developed diseases, accompanied with fever after infection, and 1 patient suffered from hypoxia, 19 patients suffered from no predisposing factors.There were 7 mild TH-deficient dopa-responsive dystonia cases, 16 severe TH-deficient infantile parkinsonism with motor delay cases and 10 very severe TH-deficient progressive infantile encephalopathy cases.Clinical symptoms were fluctuating, including 26 cases of diurnal fluctuation, 22 cases of infection aggravation, and 30 cases of fatigue aggravation.The initial symptoms included tiptoeing and numbness in the limbs(7 cases), motor development retardation or degression (26 cases), fremitus (8 cases), ptosis (2 cases), and status dystonicus (3 cases). Other clinical features had hypermyotonia (23 cases), hypomyotonia (27 cases), decreased movement (27 cases), decreased facial expression (24 cases), fremitus (18 cases), tiptoeing (20 cases), talipes equinovarus (7 cases), ptosis (8 cases), oculogyric crisis (10 cases), salivation (21 cases), dysphagia (12 cases), dysarthria (16 cases), dyspnea (3 cases), increased sleep (10 cases), decreased sleep (5 cases), irritable mood (15 cases), apathetic mood (2 cases), profuse sweating (8 cases), and status dystonicus (6 cases). A total of 6 patients′ right limbs were more severe, and 14 patients′ lower limbs were more severe.Eight patients had family history, and Levodopa treatment was effective for all patients.Ten patients suffered side effects, including dyskinesia and irritability.Four patients were lost follow-up, and 29 patients were followed up between 0.8 and 13.2 years old until Ja-nuary 2020.Totally, 22 patients almost had no such symptoms.Twenty-five TH gene pathogenic variants were discovered in 33 patients.There were 13 novel variants (c.1160T>C, c.1303T>C, c.887G>A, c.1084G>A, c.1097A>T, c.734G>T, c.907C>G, c.588G>T, c.992T>G, c.755G>A, c.184-6C>T, c.1510C>T, c.910G>A) and 2 patients had c. 910G>A variant.Meanwhile, there were 5 hot variants [c.698G>A(13 cases), c.457C>T(9 cases), c.739G>A(6 cases), c.1481C>T(4 cases), c.694C>T(3 cases)]. c.910G>A(2 cases) may be the foun-der variant of Chinese population. Conclusions:THD caused by TH gene variant mostly onsets from infant, with complex clinical features.Most of these patients were severe, and only a few were very severe and mild.Very severe and mild symptoms were easily misdiagnosed.Levodopa treatment was obviously effective.A possible founder variant of Chinese population (c.910G>A) was found.c.698G>A and c. 457C>T mutations mainly appeared in patients with severe and extremely severe THD, while c. 739G>A mainly appeared in patients with mild THD.