[Clinical efficacy of combined therapy in children with stage 4 neuroblastoma]. / 儿童4期神经母细胞瘤联合治疗的临床疗效观察.

OBJECTIVES: To study the early clinical efficacy of combined therapy of stage 4 neuroblastoma. METHODS: A retrospective analysis was performed on the medical data and follow-up data of 14 children with stage 4 neuroblastoma who were diagnosed in Hong Kong University-Shenzhen Hospital from January 2016 to June 2021. RESULTS: The median age of onset was 3 years and 7.5 months in these 14 children. Among these children, 9 had positive results of bone marrow biopsy, 4 had N-Myc gene amplification, 13 had an increase in neuron-specific enolase, and 7 had an increase in vanilmandelic acid in urine. Based on the results of pathological examination, differentiated type was observed in 6 children, undifferentiated type in one child, mixed type, in one child and poorly differentiated type in 6 children. Of all the children, 10 received chemotherapy with the N7 regimen (including 2 children receiving arsenic trioxide in addition) and 4 received chemotherapy with the Rapid COJEC regimen. Thirteen children underwent surgery, 14 received hematopoietic stem cell transplantation, and 10 received radiotherapy. A total of 8 children received Ch14.18/CHO immunotherapy, among whom 1 child discontinued due to anaphylactic shock during immunotherapy, and the other 7 children completed Ch14.18/CHO treatment without serious adverse events, among whom 1 child was treated with Lu177 Dotatate 3 times after recurrence and is still undergoing chemotherapy at present. The median follow-up time was 45 months for all the 14 children. Four children experienced recurrence within 2 years, and the 2-year overall survival rate was 100%; 4 children experienced recurrence within 3 years, and 7 achieved disease-free survival within 3 years. CONCLUSIONS: Multidisciplinary combined therapy is recommended for children with stage 4 neuroblastoma and can help them achieve better survival and prognosis.

Adrenal Cushing's syndrome in pregnancy: Clinical and molecular characterisation of a case.

BACKGROUND: Cushing's syndrome is rare during pregnancy and more commonly due to adrenal pathology, in contrast to the non-pregnant population. Increased levels of cortisol-binding globulin and placental production of corticotropin-releasing hormone and adrenocorticotropic hormone complicate the diagnostic strategies usually employed. CASE: A 32-year-old G1P0 at 15/40 gestation presented with severe peripheral oedema and excessive weight gain. Examination revealed pitting oedema to the abdominal wall, wide violaceous striae, moon facies and acne. Cortisol excess was confirmed with elevated 24 h urinary free cortisol, raised midnight salivary cortisol and lack of diurnal variation. Adrenocorticotropic hormone ranged between 22 and 36 pg/ml (5-8 pmol/L). Fetal ultrasound confirmed a single live intrauterine gestation with an incidental finding of a maternal left adrenal mass. Magnetic resonance imaging confirmed an adrenal mass measuring 3.0 × 4.4 × 4.1 cm. She underwent a laparoscopic left adrenalectomy at 18 weeks' gestation without complication. Her postoperative cortisol level was undetectable. Hydrocortisone replacement was commenced with slow weaning as an outpatient. Histology was consistent with an adrenal adenoma. Immunohistochemistry revealed strong staining for the luteinising hormone/choriogonadotropin receptor, and expression of the luteinising hormone/choriogonadotropin receptor gene was in the range seen in normal ovary. DNA analysis revealed a mutation in GNAS encoding the Gα subunit in the cyclic adenosine monophosphate pathway. CONCLUSION: Cushing's syndrome may present in pregnancy as a result of ßhCG acting on the luteinising hormone/choriogonadotropin receptor over-expression by the adenoma amplifying the aberrant cyclic adenosine monophosphate signaling implicated in the development of cortisol-secreting adenomas.

Ventilação não-invasiva em crianças: uma revisão / Noninvasive ventilation in children: a review

OBJETIVO: Avaliar o uso de ventilação não-invasiva (VNI) em crianças e sua aplicação na insuficiência respiratória aguda e crônica. FONTES DOS DADOS: Busca de artigos pertinentes no Pubmed, base de dados Cochrane e Ovid MEDLINE entre 1950 e 2007, através do emprego dos termos pediatria, ventilação não-invasiva e pressão positiva nas vias aéreas. SíNTESE DOS DADOS: Há uma escassez de publicações acerca da VNI em pediatria. A maioria dos dados disponíveis diz respeito a relatos de caso ou pequenas séries de casos, com apenas alguns estudos randomizados pequenos. CONCLUSÃO: Embora o uso de VNI seja cada vez mais reconhecido em pediatria, atualmente não existem ainda orientações gerais para o seu uso. Nos casos crônicos, seu uso foi eficaz no tratamento de apnéia obstrutiva do sono e na insuficiência respiratória secundária a afecções neuromusculares. Parece que o maior desafio é garantir a adesão ao tratamento e isso pode ser obtido através da instrução do paciente/cuidador, utilização de uma interface adequada, umidificadores aquecidos e minimização dos efeitos colaterais da VNI. Nos casos de insuficiência respiratória aguda, os dados disponíveis parecem indicar que se pode inferir o sucesso do tratamento pela rapidez na resposta terapêutica. Os pacientes submetidos à VNI devem ser monitorados cuidadosamente e essa modalidade de ventilação deve ser reconsiderada caso não haja resposta após algumas horas do início do tratamento.

OBJECTIVE: To assess the use of noninvasive ventilation (NIV) in children and its application in the acute and chronic setting of pediatric respiratory failure. SOURCES: Search of pertinent articles within Pubmed, Cochrane and Ovid MEDLINE databases from 1950 to 2007, using the keywords "pediatrics", "noninvasive ventilation" and "positive airway pressure". SUMMARY OF THE FINDINGS: There is a paucity of published data on pediatric NIV. The majority of the data available are case reports or small case series, with a number of small, randomized studies reported. CONCLUSION: Although the use of NIV is increasingly recognized in pediatrics, there are currently still no generally accepted guidelines for its use. In the chronic setting, its use has mainly been proven in obstructive sleep apnea and respiratory failure secondary to neuromuscular disorders. It would appear that the major challenge is ensuring compliance, and this can be enforced by patient/caregiver education, use of a suitable interface, heated humidifiers and by minimizing the side effects of NIV. In the setting of acute respiratory failure, it would appear from available data that success is usually predicted by the rapidity of response. Patients placed on NIV should be monitored closely and this mode of ventilation should be reviewed if there is a lack of response within a few hours after commencement of therapy.