Objective To study the clinical diagnosis and therapy of scar pregnancy after uterine cesarean section.Methods Clinical data of 21 patients with uterine cesarean section in our hospital from June 2006 to December 2008 were retrospectively analyzed.Results The success rate of 16 cases by drug therapy (including three cases of surgical treatment) was 81.3%;3 cases of auto-discharge transferred to other hospitals to do intervention,1 case used expectant treatment,1 case used complete curettage of uterine cavity under B-Ultrasound.Conclusion Drug treatment can terminated scar pregnancy after uterine cesarean section effectively,but there is a potential risk of massive hemorrhage or uterine rupture;color doppler ultrasound,especially Transvaginal color doppler ultrasound was the primary means of cesarean section,and benefit to judge prognostic factors and observed treatment.

Objective To investigate the value of nasal continuous positive airway pressure (NCPAP) in the treatment of severe pneumonia. Methods The clinical data of 59 severe pneumonia infants who received NCPAP preferential ventilation strategy were retrospectively analyzed. Results After treatment, 50 infants were effective and 9 infants were ineffective. Before treatment, the age, RR, HR between effective group and ineffective group had no significant differences (P>0.05). But the levels of PaCO2, PaO2/FiO2 in ineffective group were significantly higher than those in effective group and the level of PaO2 in ineffective group was significantly lower than that in effective group (P<0.05). In effective group, the levels of PaO2 and PaO2/FiO2 were significantly increased after treatment for 1, 12 and 24 h, and the levels of PaCO2, RR and HR were significantly decreased (P<0.01). Conclusions NCPAP preferential ventilation strategy can reduce the use of invasive mechanical ventilation, improve oxygenation, ease dyspnea and make vital signs stable.

Following the development of antineoplastic modalities and improvement in the prognosis of patients with cancer, the oc-currence of cardiotoxicity induced by chemotherapeutic drugs is increasing. Traditional chemotherapeutic drugs, mainly anthracyclines cause varying degrees of direct or indirect damage to the heart, which may even occur several years after the end of treatment. This is-sue is becoming more complicated with the emergence of some new antineoplastic drugs. Treatment options for patients with cancer are limited, and these also have an important effect on patient survival and prognosis. Cardio-oncology is a emerging discipline that in-volves understanding the pathophysiology of cardiotoxicity induced by chemotherapeutic drugs, evaluation of the risks, early detec-tion and systematic management, and optimal drug therapy to reduce the occurrence of cardiotoxicity and to improve the prognosis of patients.

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.

OBJECTIVETo analyze the clinical characteristics of pediatric neuromyelitis optica (NMO) and neuromyelitis optica spectrum disorders (NMOSD).

METHODA retrospective analysis was performed evaluating clinical and laboratory characteristics of ten NMO and NMOSD children who were seen in our hospital from December 2010 to May 2014. Median age at onset was 8.9 years (range 0.8-13.8 years). Seven cases were female and three were male. Median disease duration was 1.5 months (range 1-18.5 months).

RESULTEight patients fulfilled diagnostic criteria for NMO and two patients fulfilled diagnostic criteria for NMOSD. The two NMOSD patients had recurrent longitudinally extensive transverse myelitis. Four cases had a monophasic disease course, and six cases had a recurrent course. In eight NMO patients, neuritis was the initial presentation. The two NMOSD patients had no neuritis in the first attack. Nine cases had clinical manifestations of myelitis, one case had asymptomatic spinal cord MRI anomaly. Among the ten patients, seven cases had brain lesions, wherein, four cases had the midbrain involvement and in four cases extensive hemispheric white matter was involved. Three cases had medullary involvement. And two cases had posterior limb of the internal capsule involvement, two cases had thalamus involvement. In one case there was pons, cerebellum or corpus callosum involvement, respectively. One case had accompanied brain symptoms. Of the five patients who had symptomatic brain lesions, four cases had encephalopathy accompanied by large hemispheric lesions on MRI, having a presentation similar to acute disseminated encephalomyelitis. And one case had multiple sclerosis like brain lesion. Of the ten patients tested, nine were seropositive for anti-aquaporin-4 autoantibody. One-patient was complicated with systemic lupus erythematosus. Oligoclonal bands were negative in all cases. All patients received treatment for acute attacks with high-dose intravenous methylprednisolone and intravenous gammaglobulin. The symptoms of 8 cases mitigated. Two cases whose symptoms showed no sign of improvement received plasmapheresis for acute attacks. Seven of the patients were followed up. The median duration of follow-up was 19 months (ranged from 13 months to 30 months). The median Expanded disability status (EDSS) score was 3 (range 1-7).

CONCLUSIONPediatric NMO and(or) NMOSD have a diverse clinical presentation which are more than just optic neuritis and transverse myelitis, including brain symptom. So it may be difficult to distinguish NMO and( or) NMOSD from acute disseminating encephalomyelitis and multiple sclerosis in the early stages of the disease. Antibodies to aquapoin-4 (AQP-Ab) testing is very important for differential diagnosis.

Adolescent ; Anti-Inflammatory Agents ; therapeutic use ; Aquaporin 4 ; Autoantibodies ; Brain ; Brain Diseases ; Child ; Child, Preschool ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Methylprednisolone ; therapeutic use ; Multiple Sclerosis ; etiology ; Neuromyelitis Optica ; complications ; diagnosis ; drug therapy ; Retrospective Studies

Objective To explore the value of contrast-enhanced ultrasound (CEUS) scores, ultrasonic elastography (UE) and their combined scores in diagnosing breast lesions of breast imaging reporting and data system (BI-RADS) 3-4. Methods From October 2015 to March 2016, 60 BI-RADS 3-4 solid breast masses diagnosed by conventional ultrasound underwent UE and CEUS. According to the relevant indicators, all cases were scored and proved by surgical pathology. The diagnostic sensitivity, specificity and accuracy of CEUS scores, UE and their combined scores were evaluated, and the receiver operating characteristic (ROC) curve was drawn. Results Twenty-nine benign and 31 malignant lesions were confirmed by pathology. The area under the ROC curve of CEUS combined with UE scores was 0.971 which was higher than that of CEUS Scores and UE alone (0.916 and 0.908, respectively). Moreover, the sensitivity, specificity and accuracy were 87.1%, 96.6% and 92.0% for CEUS combined with UE Scores, 77.4%, 93.1% and 85.0% for CEUS Scores, 74.2%, 93.1% and 83.3% for UE, respectively. Conclusion CEUS combined with UE scores can improve the differetial diagnostic accuracy for BI-RADS 3-4 breast lesions.

[摘 要] 尽管以PD-1/PD-L1抑制剂为基础的免疫治疗显著提升了肺癌患者的生存期，但耐药问题依然严峻。本文阐述了免疫治疗耐药的定义、发生机制及预测模型，介绍了针对耐药的治疗策略，包括免疫治疗继续应用、再挑战、寡转移背景下的局部治疗联合全身免疫治疗、广泛进展后的联合治疗等。此外，还探讨了新型治疗手段如过继性细胞疗法、抗体偶联药物、双特异性抗体和肿瘤疫苗等在克服耐药中的应用前景。同时，总结了肺癌免疫治疗的挑战与发展方向，强调了持续研究、创新治疗策略以及跨学科合作的重要性。为未来肺癌治疗的个体化、精准化和高效化提供新思路与研究方向。

Objective: To investigate the clinically and genetic characteristics of children with Leigh syndrome. Method: Patients with clinically diagnosed Leigh syndrome(LS)in the department of Neurology, Beijing Children′s Hospital from January 2013 to February 2016 underwent the mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) detecting with next generation sequencing (NGS) technology. The clinical data of gene confirmed cases were retrospectively collected and analyzed. The differences in the onset age, clinical manifestations, lactic acid level and MRI results between the mtDNA variation and nDNA variation were compared and analyzed.t test, Chi-square test and Fisher′s exact test were used for statistical analysis. Result: Thirty-five cases were diagnosed by gene detection, including 20 males and 15 females. The median onset age was 1 year (ranging from the neonatal period to 4.4 years old). The age of onset within 2 years accounted for 74%(26 cases). The onset age of initial symptoms, including developmental delay, developmental regression, and seizures, were 6 (4, 12) months, 12 (8, 14) months, and 6 (1, 23) months respectively. The onset age of ptosis, extrapyramidal symptoms and ataxia were 26 (18, 44) months, 28 (23, 40) months and 28 (19, 35) months, respectively. There were significant differences in the onset age between the three groups (H=21.919, P=0.01). Within the 35 cases, 29 were manifested with developmental delay (83%), 26 with dystonia (74%), 18 with growth retardation, 15 with myasthenia, 13 with developmental regression, 11 with dysphagia, 10 with feeding difficulties, 4 with skeletal dysplasia, and 2 with digestive tract symptoms; nystagmus and respiratory abnormalities were observed in 9 cases respectively; extrapyramidal symptoms, peripheral nerve injury, ptosis, seizures were observed in 8 cases respectively; and ataxia, ophthalmoplegia and hypertrichiasis were found in 5 cases respectively.The blood lactic acid was measured in 32 LS patients, within which 23 cases (72%) had increased results; 8 out of 11 cases who underwent were cerebrospinal fluid lactic acid test had increased results. The results of neuroimaging revealed that all the patients were involved in the brainstem and (or) basal ganglia, of whom 27 (77%) had brainstem involvement, 24 (69%) had basal ganglia involvement. Thirteen out of 14 patients who had medulla oblongata involvement had nDNA variation; while 7 out of 8 patients with cerebellar involvement had nDNA variation. Genetic etiology was confirmed in all patients, among whom there were 17 cases (49%) with mtDNA mutation, including 8993T>C/G (n=5), 14487T>C (n=4), 13513G>A (n=2), 9176T>C, 10158T>C, 3697G>A, 10191T>C, 14459A>G and 11777C>A (n=1) respectively. Remaining 18 cases(51%) had nDNA mutation, including SURF1 gene(n=10), PDHA1 gene(n=3) and one case each of NDUFV1, NDUFAF6, NDUFAF5, NDUFS1 and COQ7 genes. In this study, 27 types of mutations were founded, 15 of which had not been previously reported. Respiratory chain gene mutations have been found in 31 cases(89%); 3 cases had PDHc gene mutations, and 1 case had other mutation. Conclusion LS usually occurs in infants. The most common primary symptoms are age-dependent abnormal movements, ocular symptoms, and seizures. Respiratory chain defects is the most common causes of LS.SURF1 is the most common variation, followed by 8993T>C/G, 14487 T>C and 13513G>A mutation.

OBJECTIVE: To analyze the clinical phenotype and genetic variants of a child with X-linked mental retardation caused by IQSEC2 gene mutation, and provide reference for the diagnosis of the disease. METHODS: The child was subjected to next generation sequencing (NGS), and the diagnosis was made by taking consideration of her clinical characteristics. RESULTS: The child has presented with global developmental delay, particularly in fine motor skill and language development, in addition with intellectual disability. Genetic testing revealed that she has harbored a heterozygous c.1861dup variant of the IQSEC2 gene, which was not detected in either parent. CONCLUSION The de novo c.186ldup variant of the IQSEC2 gene probably underlay the X-linked mental retardation in this child. Above finding has, expanded the spectrum of IQSEC2 gene mutations and provide a basis for the diagnosis of similar cases.
Female ; Guanine Nucleotide Exchange Factors/genetics* ; Heterozygote ; Humans ; Intellectual Disability/genetics* ; Mental Retardation, X-Linked/genetics* ; Mutation ; Phenotype

Objective To explore the clinical characteristics of Hashimoto encephalopathy (HE) in children. Methods The clinical data of 4 children with HE were analyzed retrospectively. Results All the 4 cases were school-age children and 3 of them were girls. They were physically healthy before onset. The main clinical manifestations were epileptic seizures in 3 cases, mental symptoms in 2 cases, disturbance of consciousness in 2 cases, stroke like symptoms in 1 case, decreased memory and decreased sleep in 1 case. Electroencephalogram showed that the background activity was decreased in 4 cases, and MRI showed abnormal in 3 cases. Serum thyroid antibodies were significantly increased in 4 cases, and were returned to normal in 2 cases when clinical symptoms disappeared, while they were significantly reduced, but not completely back to normal in another 2 cases. Only one out of 4 cases had abnormal thyroid function. All the 4 cases responded well to corticosteroid therapy. One of them relapsed after discontinuation of the therapy, but it was still effective when the therapy was reassumed. Conclusions HE is rare in children. When there are manifestations of unknown cause, such as epileptic seizures, mental disorders, cognitive impairment, movement disorders and disturbance of consciousness, HE should be considered. In addition, the increase of serum thyroid antibody should be considered as a necessary condition for diagnosis.