Clinical and genetic analysis of a Chinese pedigree affected with benign familial neonatal convulsion / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical phenotype and genetic variant in a Chinese pedigree affected with benign familial neonatal convulsion (BFNC).@*METHODS@#Clinical data and peripheral blood samples of the pedigree were obtained with informed consent. Whole exome sequencing (WES) was carried out for the proband. Candidate variants were verified by Sanger sequencing.@*RESULTS@#The pedigree comprised 9 individuals, among whom 4 were affected, including 3 males and 1 female. All patients had developed seizures during the neonatal period, which had ceased in 4 to 6 months. One patient had recurrence in between 1 and 2 years old. Genetic testing has identified a novel nonsense c.810G>A (p.W270X) variant in exon 5 of the KCNQ2 gene, which has co-separated with the BFNC phenotype in the pedigree.@*CONCLUSION@#The patients from this pedigree have conformed to the diagnosis of BFNC with good prognosis, which was in keeping with previously reported cases. The heterozygous c.810G>A (p.W270X) nonsense variant of the KCNQ2 gene probably underlay the pathogenesis of BFNC in this pedigree, which has expanded the mutational spectrum of the disease.

Mental health status and related influencing factors during the epidemic of coronavirus disease 2019（COVID-19） / 公共卫生与预防医学

Objective To understand the public mental health status and related influencing factors during the epidemic of coronavirus disease 2019（COVID-19）. Methods A structured questionnaire was used to conduct a questionnaire survey of the research subjects through an online platform. The public mental health status was assessed using the Symptom Checklist (SCL-90). Logistic regression analysis was used to analyze related influencing factors. Results The survey included 1 078 eligible questionnaires, of which 252 (23.38%) were positive on the SCL-90 scale. For each SCL-90 factor, the highest positive rate was anxiety (41.28%), followed by horror (35.16%), and depression (33.21%). Multivariate logistic regression analysis showed that from Hubei (OR=1.64, P=0.014), male (OR=1.37, P=0.036), medical related occupations or professions (OR=1.57, P=0.008), and high concern over the epidemic (OR=2.19, P=0.013) and known people with suspected or confirmed cases (OR=2.75, P<0.001) were risk factors influencing public mental health. Conclusion The mental health problems of the population during the epidemic of COVID-19 were serious, especially in Hubei. Male groups, medical workers, and people with relatives and friends who have a case need to pay attention to their own mental health. The government should increase the publicity of mental health knowledge to effectively prevent the occurrence and development of mental illness in these people.

Protective effect of an angiotensin-converting-enzyme inhibitor on neurogenic pulmonary edema in rabbits / 中华儿科杂志

<p><b>OBJECTIVE</b>Neurogenic pulmonary edema (NPE ) was indicative of poor prognosis in the epidemic of enterovirus 71 infections. The pathogenesis of NPE remains poorly understood. The objectives of this experimental study were to explore whether RAS is activated during NPE in rabbit models induced by fibrin and the effects of an angiotensin converting enzyme inhibitor (enalaprilat) on NPE.</p><p><b>METHOD</b>NPE models were induced by intracisternal injection of fibrinogen and thrombin. According to random number table method, 18 healthy adult New Zealand rabbits were assigned to three groups (with 6 in each) : normal control group (Con group), NPE group and enalaprilat treated (Ena) group. After establishment of NPE models, rabbits in Ena group were given intravenous enalaprilat 0.5 mg/kg. Expression of ACE,ACE2,AT1R mRNA of the lung tissue were evaluated by real-time polymerise chain reaction; and Ang II of the lung tissue was determined by enzyme linked immunosorbent assay ( ELISA ). Meanwhile, histopathological lung injury scores were evaluated.</p><p><b>RESULT</b>ACE mRNA expression level in NPE group ( 17.2 ± 3.3) appeared an increasing trend in contrast to Con group ( 12.6 ± 5.2 ) and Ena group ( 11.5 ± 2.4, both P > 0.05 ). Compared with Con group (81 ± 22 ), ACE2 mRNA expression levels of NPE group ( 52 ± 6 ) and Ena group ( 45 ± 13 ) both decreased ( both P < 0.05 ) . ACE mRNA/ACE2 mRNA expression levels of NPE group ( 0.33 ± 0.06 ) and Ena group ( 0.26 ± 0.04 ) were higher than those of Con group ( 0.16 ± 0.05, both P < 0.05 ), as well as the ratio of Ena group decreased compared with untreated NPE group ( 0.26 ± 0.04 vs. 0.33 ± 0.06, P < 0.05 ) . There were no statistically significant differences in expression of AT1 mRNA of the lung tissue among three groups, but Ena group ( 4.8 ± 1.1) in contrast to NPE group ( 6.7 ± 1.3) has no significant difference (P > 0.05). Lung AngII level of NPE group [(540 ± 147) pg/ml] was significantly higher than that of Con group [(253 ± 37 ) pg/ml] and Ena group [(309 ± 35 ) pg/ml, both P < 0.05 ]. Gross pathologic examination showed that pink foamy edema fluid appeared in the tracheal tubes in NPE group, but spontaneously appeared in neither Con group nor Ena group; and the level of pulmonary subpleural bleeding in Con group, 12 graded 0; in NPE group, 2 graded II, 10 graded III; in Ena group, 2 graded, 8 grade II, 2 grade III. The histopathologic lung injury scores in Ena group was decreased in contrast to NPE group (1.36 ± 0.26 vs.2.32 ± 0.49, P < 0.05) and mainly for the improvement of alveolar overdistension and interstitial edema.</p><p><b>CONCLUSION</b>The present study showed that when NPE occurs, a high lung AngII concentration was associated with an imbalance between ACE mRNA to ACE2 mRNA expression level. Activated local RAS in lung tissue resulted in lung injury. Enalaprilat treatment may attenuate lung injury by interventing local RAS in lung tissue with decreased ratio of ACE mRNA to ACE2 mRNA and lung AngII concentration. The result will be significant for the angiotensin converting enzyme inhibitor used in the theatment of NPE.</p>

Progress of miRNA in childhood acute lymphoblastic leukemia / 国际儿科学杂志

The non-coding miRNA is classified into different families according to their gene structure and function.It is involved in many cellular processes,such as proliferation,differentiation and apoptosis.Recently it has been proved that miRNA has played an important role in the pathogenesis of many cancers,acting as oncogenic miRNAs or tumor suppressor,including acute lymphoblastic leukemia (ALL).Because miRNA is highly connected with the pathogenesis,diagnosis,prognosis and drug-resistant of childhood ALL,it might be a new breakout for the diagnosis and treatment of ALL.This paper reviews current literatures on miRNA and childhood ALL.

Experience of the Application of Modern Nursing Ethics to Hospice Care / 中国医学伦理学

Clinical treatment shows little significance for some terminal tumor in practice,in which case hospice care seems to be particularly important.During the application of modern nursing ethics to hospice care,some aspects should be bared in mind,including trying to meet the demand of patients and their family members,showing enough respect for their right to choose,and appropriately instructing death education.Meanwhile,communication and cooperation with other medical staff should also be stressed during hospice care.