Clinical and gene mutation features of cystic fibrosis: an analysis of 8 cases / 中国当代儿科杂志

OBJECTIVES@#To study the clinical features and gene mutation sites of children with cystic fibrosis (CF), in order to improve the understanding of CF to reduce misdiagnosis and missed diagnosis.@*METHODS@#A retrospective analysis was performed on the medical records of 8 children with CF who were diagnosed in Hebei Children's Hospital from 2018 to 2021.@*RESULTS@#Among the 8 children with CF, there were 5 boys and 3 girls, with an age of 3-48 months (median 8 months) at diagnosis, and the age of onset ranged from 0 to 24 months (median 2.5 months). Clinical manifestations included recurrent respiratory infection in 7 children, sinusitis in 3 children, bronchiectasis in 4 children, diarrhea in 8 children, fatty diarrhea in 3 children, suspected pancreatic insufficiency in 6 children, pancreatic cystic fibrosis in 1 child, malnutrition in 5 children, and pseudo-Bartter syndrome in 4 children. The most common respiratory pathogens were Pseudomonas aeruginosa (4 children). A total of 16 mutation sites were identified by high-throughput sequencing, multiplex ligation-dependent probe amplification, and Sanger sequencing, including 5 frameshift mutations, 4 nonsense mutations, 4 missense mutations, 2 exon deletions, and 1 splice mutation. CFTR mutations were found in all 8 children. p.G970D was the most common mutation (3 children), and F508del mutation was observed in one child. Four novel mutations were noted: deletion exon15, c.3796_3797dupGA(p.I1267Kfs*12), c.2328dupA(p.V777Sfs*2), and c.2950G>A(p.D984N).@*CONCLUSIONS@#p.G970D is the most common mutation type in children with CF. CF should be considered for children who have recurrent respiratory infection or test positive for Pseudomonas aeruginosa, with or without digestive manifestations or pseudo-Bartter syndrome.

Multicenter Randomized Controlled Clinical Trial of Longmu Zhuanggu Granule in Treatment of Children Recurrent Respiratory Infection with Lung-Spleen Qi Deficiency Syndrome / 中国实验方剂学杂志

Objective:To evaluate the clinical efficacy and safety of Longmu Zhuanggu granule for the treatment of children recurrent respiratory infection due to lung-spleen Qi deficiency. Method:This multicenter stratified， block-randomized， double-blind， double-dummy， positive drug （pidotimod granule） parallel controlled， and non-inferiority trail intended to included 240 children patients and divided them into the experimental group （<italic>n</italic>=120） and the control group （<italic>n</italic>=120） at the ratio of 1∶1. Patients in both groups were treated for eight successive weeks and followed up for 12 months. The cure rates， numbers of respiratory infections， average courses of disease， curative effects of traditional Chinese medicine （TCM） syndrome， curative effects of individual symptoms， curative effects of immune indexes， and safety indexes between the two groups were observed and compared. Result:A total of 237 subjects were collected from 10 research centers， including 119 cases in the control group and 118 in the experimental group. There were 236 cases enrolled into the full analysis set （FAS）， 210 into the per-protocol set （PPS）， and 236 into the safety set （SS）. The baseline data of the two groups were not significantly different from each other， indicating that they were comparable. The cure rates of the experimental group and control group were 75.21% （88/117） and 73.95%（88/119）， respectively， with the 95% confidence interval （CI） of difference between the two groups being 1.26% （-9.85%，12.37%） for FAS and 3.81% （-6.28%，13.90%） for PPS. The 95% CI fell within the 10% non-inferiority margin， implying that non-infertility test of the cure rate in the treatment of endpoint disease was valid， and the conclusions of FAS and PPS analysis were consistent. There was no significant difference in the number or course of upper respiratory infection， bronchitis， and pneumonia. The difference in curative effects of TCM syndrome between the two groups after four weeks of treatment was not remarkable. After eight weeks of treatment， the total effective rate of the experimental group was 84.62%（99/117）， statistically higher than 78.15%（93/119） of the control group（<italic>χ</italic>²=-3.26，<italic>P</italic><0.05）. There were no significant differences in the disappearance rates of individual symptoms between the two groups after four weeks of treatment. After eight weeks of treatment， the experimental group and control group exhibited the disappearance rates of 67.50%（54/80） and 47.37%（36/76） for shortness of breath and laziness to speak， 75.00%（54/72） and 53.33%（40/75） for poor appetite， 54.55%（60/110） and 37.84%（42/111） for hyperhidrosis， respectively， with obviously better outcomes observed in the experimental group （<italic>P</italic><0.05，<italic>P</italic><0.01）. The inter-group comparison revealed significant differences in immune indexes after eight weeks of treatment. As demonstrated by comparison with the situations before treatment， IgA， IgG， IgM， and CD4 did not change significantly after treatment. Except for CD8 in the experimental group (<italic>P</italic><0.05), there was no significant difference in other immune indexes before and after treatment There was no significant difference in the incidence of adverse reactions. Conclusion:Longmu Zhuanggu granule is not inferior to pidomod granule in the treatment of children recurrent respiratory infection due to lung-spleen Qi deficiency， and it exhibits good safety， implying its promising clinical application value.

Secuestro pulmonar intralobar / Intralobar pulmonary sequestration

El secuestro pulmonar es una malformación congénita del tracto respiratorio inferior, rara e importante. En niños y adultos suele presentarse con infecciones pulmonares a repetición o crónicas severas. Se describió un caso de una paciente de 19 años de edad que tuvo un cuadro de sepsis respiratoria bajas a repetición. En los estudios de imágenes de tórax se evidenció opacidad homogénea en hemitórax derecho. Fue intervenida quirúrgicamente; se le realizó una lobectomía inferior derecha la cual fue diagnóstica para secuestro pulmonar, con evolución satisfactoria(AU)

Pulmonary sequestration is a rare and important congenital malformation of the lower respiratory tract. In children and adults, it usually presents with severe chronic or repeated lung infections. A case of a female 19-year-old patient who had recurrent lower respiratory sepsis is reported. Homogeneous opacity was evident in the chest imaging studies in the right hemithorax. She underwent surgery. A lower right lobectomy was performed, which was diagnostic for pulmonary sequestration, with satisfactory evolution(AU)

Efficacy Observation of Carboxymethyl Starch in the Treatment of Recurrent Respiratory Infection Chil-dren / 中国药房

OBJECTIVE:To observe clinical efficacy of carboxymethyl starch in the treatment of recurrent respiratory infection (RRI)children. METHODS:110 RRI children were selected and randomly divided into observation group and control group,with 55 children in each group. Control group was given routine treatment,such as anti-infection,anti-virus,abatement of fever,reliev-ing cough,phlegm transformation and etc. Observation group was additionally given Carboxymethyl starch sodium solution (7 ml for 7 year-old)on the basis of control group. Both groups received consecutive treatment for 3 months. The changes of cellular immunity function index CD4+,CD8+ and CD4+/CD8+ and humoral immunity index IgG,IgA and IgM were observed in 2 groups before and after treatment,and clinical efficacy was evaluated in 2 groups. RE-SULTS:There was no statistical significance in CD4+,CD8+and CD4+/CD8+levels of control group before and after treatment(P>0.05);after treatment,CD4+ and CD4+/CD8+ of observation group obviously increased,while CD8+ level obviously declined;the observation group was better than control group,with statistical significance (P0.05);after treatment,IgG,IgA and IgM levels of control group increased significantly,and the observation group was better than control group,with statistical significance (P<0.05). Total effective rate of observation group was 92.73%,which was much higher than that in control group (78.18%),with statistical significance(P<0.05). CONCLUSIONS:Carboxymethyl starch has definite therapeutic efficacy on RRI,and can obvi-ously improve cellular and humoral immunity function.

Factores de riesgo inmunoepidemiológicos en niños con infecciones respiratorias recurrentes / Immunoepidemiologic risk factors in children presenting with recurrent respiratory infections

Introducción: las infecciones respiratorias recurrentes que se presentan en edades tempranas tienen una elevada morbilidad y existen numerosos factores que contribuyen a su desarrollo. Objetivo: identificar los factores de riesgo inmunoepidemiológicos que contribuyeron a la aparición de las infecciones respiratorias recurrentes. Métodos: estudio observacional descriptivo longitudinal retrospectivo en un grupo de niños procedentes de Ciudad de la Habana y La Habana que ingresaron por infecciones respiratorias recurrentes y que asistieron a la consulta de inmunología en el período comprendido de enero de 2005 a diciembre de 2007 en el Hospital Maternoinfantil Ángel Arturo Aballí. Resultados: la edad preescolar, el sexo masculino, la lactancia materna no efectiva, la alergia, el bajo peso al nacer, el humo de tabaco en el ambiente, la asistencia a círculos infantiles y el hacinamiento fueron los factores de riesgo más frecuentes. Los trastornos de la respuesta inmune mayormente encontrados fueron el defecto inmune celular, el defecto inmune humoral y el trastorno fagocítico. Conclusiones: los factores de riesgo inmunoepidemiológicos encontrados en la muestra de estudio fueron: la edad comprendida entre los 1 a 5 años con predominio del sexo masculino, la lactancia materna no efectiva, la alergia, el bajo peso al nacer, el humo de tabaco en el ambiente, el hacinamiento y la asistencia a los círculos infantiles. Estos se acompañan de defectos de la respuesta inmune con predominio de la rama celular

Introduction: the recurrent respiratory infection appearing at early ages have a high morbidity and there are many risk factors contributing to its development. Objective: to identify the immunoepidemiologic risk factors contributing to appearance of recurrent respiratory infections. Methods: a retrospective, longitudinal, descriptive and observational study was conducted in a group of children from Ciudad de La Habana y La Habana admitted due to this type of infections and came to immunology consultation from January, 2005 to December, 2007 of the Angel Arturo Aballí Maternal and Children Hospital. Results: the preschool age, male sex, non-effective breastfeeding, allergy, low birth weight, environmental tobacco smoke, assistance to nurseries and overcrowding were the more frequent risk factors. The more frequent immune response disorders were the cellular immune defect, the humoral immune defect and the phagocyte disorder. Conclusions: the immunoepidemiologic risk factors present in the study sample were: age between 1 to 5 years with predominance of male sex, non-effective breastfeeding, allergy, low birth weight, environmental tobacco smoke, overcrowding and assistance to nurseries. All these are accompanied of immune response defects with predominance of cellular branch

Changes of Serum Insulin-Like Growth Factor-Ⅰ and Immune Globulin in Children with Recurrent Respi-ratory Infection and Their Clinical Significances / 实用儿科临床杂志

0.05). Two fasting blood samples of 3 mL were taken in both groups and were sealed in tubes.Serum was separated by centrifugation at 3 000 r/min for 10 min. The serum IGF-Ⅰ, IgG, IgA and IgM were detected with the method of ELISA. The body height, wieght were measured at the same time. Statistical analysis was performed by using SPSS 11.0 software. Means and standard deviation were calculated.t-test was used to compare the differences between menas.Pearson correlation was used to analyze the significance of correlation.Results The serum IGF-Ⅰ,IgG,IgA,IgM and weight,height in RRI group were (21.8?4.5) ?g/L,(8.85?1.94) g/L,(0.78?0.22) g/L,(1.01?0.55) g/L,(17.7?4.92) kg and (95.2?3.22) cm.The serum IGF-Ⅰ,IgG,IgA,IgM and weight,height in control group were (32.7?4.7) ?g/L,(12.05?2.09) g/L,(1.95?0.90) g/L,(1.60?0.60) g/L,(25.3?9.6) kg,(104.7?8.32) cm,respectively.There were significant differences between 2 groups(Pa

Clinical and experimental study on Jiudaiqingyuan oral liquid in strengthening immunologic function of children with recurrent respiratory infection(RRI) / 中国免疫学杂志

Objective:To explore the effect of Jiudaiqingyuan oral liquid in strengthening immunologic function of children with RRI.Methods:100 children with RRI were randomly divided into two groups:the routine treatment group(RTG) and the group treated with Jiudaiqingyuan oral liquid (JDG).Venous blood was drawn before and after treatment to detect T lymphocyte subsets(SP method),NK cell activity (MTT method),sIL 2R(ELISA method),IgG,IgA,IgM(transmission turbidimetric method).Results:CD3 +,CD4 +,CD4 +/CD8 +,NK cell activity and IgG,IgA of the children with RRI were notably lower and CD8 +、IgM、sIL 6R markly higher before treatment.These indexes recovered to some extent after routine treatment but were still significantly different from those of normal controls(P0 05).Conclusion:Jiudaiqingyuan oral liquid has strong effect on immunologic regulation.It may markly enhance cellular and humoral function of children with RRI.

EFFECTS OF RETINOIDS ON THE PRODUCTION OF CYTOKINES OF PBMC FROM THE CHILDREN WITH RECURRENT RESPIRATORY INFECTION / 营养学报

Objective: To study the effects of retinoids (retinol? retinoic acid? retinyl acetate) in vitro on the production of interleukin 1 (IL-1)? interleukin 2 (IL-2) of peripheral blood mononuclear cells (PBMC) from the children with recurrent respiratory infection (RRI). Methods: The activities of IL-1? IL-2 of the PBMC from RRI children and the changes of IL-1? IL-2 activities after cultured with 10 -9 mol/L retinoids were measured. Results: The activities of IL-1? IL-2 of PBMC from RRI children were lower than normal control and could be restored to normal level after cultured with retinoids. Conclusion: The production of IL-1? IL-2 of PBMC from RRI children can be enhanced by retinoids and restored to normal.