Objective: To observe the clinical efficacy of umbilicus application with Chinese medicine in treating children’s chronic diarrhea due to food intolerance and the value of healthy diet education. Methods:Eighty kids with chronic diarrhea due to food intolerance were recruited from multiple centers and divided by using the random number table into a treatment group of 40 cases and a control group of 40 cases. For both groups, based on the level of serum food-specific immunoglobulin G (Ig-G), the patients were given unified diet following the healthy diet guidance: safe, alternate, and forbidden, while the treatment group was additionally given umbilicus application with Chinese medicine. The therapeutic efficacy and symptom score of traditional Chinese medicine (TCM) were observed and compared respectively after 1-week, 2-week, 4-week, and 12-week treatment. Results:The diarrhea symptoms and coupled symptoms scores dropped significantly in the two groups after treatment ( all P<0.05), and the inter-group comparisons also showed statistical significances (P<0.05). The total effective rate was 97.5% in the treatment group versus 77.5% in the control group, and the inter-group difference was statistically significant (P<0.05). Conclusion:The healthy diet guidance based on the food intolerance test is effective in helping treat diarrhea, while umbilicus application with Chinese medicine works better in treating diarrhea for kids with chronic diarrhea due to food intolerance and can significantly enhance the therapeutic efficacy.

Objective To complete the synthesis of the natural product of crinumaquine .Methods 3 ,4-methylenedioxy-phenethylamine and 2 ,5-dimthoxyphenylacetic were taken as starting material ,and chemical reactions of condensation ,cycliza-tion ,reduction ,oxidation and other reactions were conducted .Results and Conclusion The optimum synthetic route was deter-minedunder which the final yield rate was 73% .

OBJECTIVE: To explore the clinical and genetic characteristics of a child with frontometaphyseal dysplasia 1 (FMD1) due to variant of FLNA gene. METHODS: Clinical phenotype of the patient was analyzed. Whole exome sequencing (WES) was carried out to detect pathogenic genetic variants. Sanger sequencing was used to verify the result in his parents. RESULTS: The 2-year-and-9-month-old boy presented with facial dysmorphism (supraorbital hyperostosis, down-slanting palpebral fissure and ocular hypertelorism), skeletal deformities (bowed lower limbs, right genu valgum, left genu varus, slight deformity of index and middle fingers, and flexion contracture of little fingers). He also had limited left elbow movement. High-throughput sequencing revealed that he has carried a de novo heterogeneous c.3527G>A (p.Gly1176Glu) missense variant of the FLNA gene. The same variant was found in neither parent. CONCLUSION The clinical manifestations of FMD1 such as joint contracture and bone dysplasia can occur in infancy and deteriorate with age, and require long-term follow-up and treatment. Above finding has expanded the spectrum of FLNA gene variants.
Child ; Filamins/genetics* ; Forehead/abnormalities* ; Humans ; Infant ; Male ; Osteochondrodysplasias/genetics* ; Phenotype ; Whole Exome Sequencing

Objective:To investigate the clinical features, treatment and prognosis of anti-γ-aminobutyric acid type B receptor (GABA B R) encephalitis. Methods:Retrospective analysis of five patients of anti-GABA BR encephalitis from the Department of Neurology, the University of Hong Kong-Shenzhen Hospital from September 2017 to June 2019 was carried out. Clinical manifestations, auxiliary examination, and treatment were analyzed. The patients were followed up for 3.5-23.0 months to assess their prognosis. Results:Five cases of anti-GABA BR encephalitis (19-81 years old) presented acute onset, with refractory epilepsy as the main clinical manifestation. There were hyperintensive signals on T 2/fluid attenuated inversion recovery in four patients′ temporal lobe and hippocampus. Electroencephalogram showed slow wave or epileptic discharge; Lung mass was found in four patients, and all were small cell lung cancer. Five cases had poor response to first-line immunotherapy (intravenous use of pulse methylprednisolone, high dose immunoglobulin or plasma exchange), then three patients received second-line immunotherapy (rituximab, cyclophosphamide), two of whom with tumor also received tumor chemotherapy. Patients who received second-line treatment and tumor chemotherapy showed better outcome than those who only received first-line treatment. Conclusions:Anti-GABA BR encephalitis present with limbic encephalitis syndromes characterized by refractory epilepsy. For patients with poor response to first-line immunotherapy, initiating second-line immunotherapy as soon as possible can improve the prognosis significantly.

Objective To detect the red blood cell lifespan in patients with polycythemia vera (PV), and explore the influencing factors. Methods From February 2017 to December 2018, 27 patients with PV at Blood Diseases Hospital, Chinese Academy of Medical Science and 18 normal controls were recruited. Red blood cell lifespan was detected by endogenous carbon monoxide (CO) breath test. The related factors were analyzed. Results The average red blood cell lifespan of 27 PV patients was 80 (range, 35-120) days (d), which was significantly shorter than that of the normal controls [110.5(69-166) d, P<0.05], namely 35.3 d shorter. The red blood cell lifespan of ten newly diagnosed patients and 17 patients who were treated with hydroxyurea and/or interferon were 98 (35-117) d and 69 (45-120) d, respectively, which were both shorter than that of the normal control (P=0.010, 0.000). Correlation analysis showed that red blood cell lifespan of patients with newly diagnosed PV was associated with JAK2 mutation allele burden (r=0.900, P=0.037), peripheral blood lymphocyte count (r=-0.742, P=0.014) and the level of serum vitamin B12 (r=-0.821, P=0.023). Conclusion The lifespan of red blood cells in patients with PV is about one?third shorter than normal, and is related to JAK2 mutation allele burden, absolute lymphocyte count, and serum vitamin B12 level.

Objective: To detect the red blood cell lifespan in patients with polycythemia vera (PV), and explore the influencing factors. Methods: From February 2017 to December 2018, 27 patients with PV at Blood Diseases Hospital, Chinese Academy of Medical Science and 18 normal controls were recruited. Red blood cell lifespan was detected by endogenous carbon monoxide (CO) breath test. The related factors were analyzed. Results: The average red blood cell lifespan of 27 PV patients was 80 (range, 35-120) days (d), which was significantly shorter than that of the normal controls [110.5(69-166) d, P<0.05], namely 35.3 d shorter. The red blood cell lifespan of ten newly diagnosed patients and 17 patients who were treated with hydroxyurea and/or interferon were 98 (35-117) d and 69 (45-120) d, respectively, which were both shorter than that of the normal control (P=0.010, 0.000). Correlation analysis showed that red blood cell lifespan of patients with newly diagnosed PV was associated with JAK2 mutation allele burden (r=0.900, P=0.037), peripheral blood lymphocyte count (r=-0.742, P=0.014) and the level of serum vitamin B₁₂ (r=-0.821, P=0.023). Conclusion The lifespan of red blood cells in patients with PV is about one-third shorter than normal, and is related to JAK2 mutation allele burden, absolute lymphocyte count, and serum vitamin B₁₂ level.

Objective: To evaluate the impact of the targeted next-generation sequencing (NGS) assay for difficult congenital anemias. Methods: Blood Disease Hospital Anemia Panel 2014 (BDHAP-2014) including 217 known genes of congenital anemias was developed. NGS and parental verification were performed for patients who were suspected diagnosed with congenital anaemia from August 2014 to July 2017. Results: A total of 46 patients were enrolled in this study, the clinical suspection were 11 cases Fanconi anemia (FA), 8 cases congenital dyserythropoietic anemia (CDA), 6 cases congenital sideroblast anemia (CSA), 12 cases congenital hemolytic anemia (CHA), 1 case dyskeratosis congenital (DC), 4 cases iron-refractory iron deficiency anemia and 4 cases unexplained cytopenia (Uc), respectively. 28 (60.9%) of 46 patients became confirmed cases after targeted NGS, corresponding to 44 mutations of which 33 were new. 26(56.5%) patients with results of the assay matching to clinical suspection, including FA (5/11, 45.5%), CSA (6/6, 100.0%), CDA (3/8, 37.5%) and CHA (12/12, 100.0%). 2 (4.3%) cases not matching to clinical suspection, including dyskeratosis congenital (DC) was made in 1(2.2%) patients with suspected FA and familial hemophagocytic lymphohistiocytosis (FHL) was made in 1(2.2%) patients with suspected unexplained cytopenia (Uc). In 12 CHA patients, the hemolytic type was further clarified by the NGS. The remaining 18 cases were not clearly diagnosed. Conclusion Targeted NGS assay is of major impact on congenital anemias. The assay should be used routinely in congenital anemias.