One case of developmental epileptic encephalopathy caused by NR4A2 gene variation and literature review / 中华神经科杂志

Objective:To analyze the clinical characteristics of a child with developmental epileptic encephalopathy caused by NR4A2 gene mutation, and to summarize the clinical phenotypes and genotypes to improve the clinician′s understanding of this disease. Methods:The clinical data of a child with developmental epileptic encephalopathy admitted to Linyi People′s Hospital in August 2022 were collected, video electroencephalogram, craniocerebral magnetic resonance imaging and family whole exon sequencing were improved, and the suspected mutation sites were verified by Sanger sequencing. Relevant literature was consulted to summarize the clinical phenotypes and genetic characteristics of nervous system diseases caused by NR4A2 gene. Results:It was found that there was a heterozygous missense mutation at the locus c.866G>A (p.A289H) of NR4A2 gene in the child, which was a de novo mutation, and both parents were wild type. According to the American Society of Medical Genetics and Genomics variation classification, it was assessed as a suspected pathogenic variation. Through literature review, there were 16 related cases reported internationally, with clinical phenotypes including mental retardation/mental retardation, language disorders, seizures, muscle tone changes and different psychological and behavioral problems. Conclusions:The NR4A2 gene is not only associated with dopa responsive disorders, but also with neurological development, intellectual impairment, language development delay, and epilepsy. The mutation of NR42A gene c.866G>A (p.A289H) is the genetic cause of the patient, and the detection of this locus expands the NR4A2 gene spectrum. NR4A2 gene is one of the pathogenic genes of developmental epileptic encephalopathy.

Analysis of clinical phenotype and SCN1A gene variant in a pedigree affected with genetic epilepsy with febrile seizures / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with genetic epilepsy with febrile seizures plus (GEFS+).@*METHODS@#Clinical data of the proband and his family members were collected. Following extraction of genomic DNA, the proband was subjected to high-throughput sequencing. Candidate variant was verified by Sanger sequencing of the proband and other family members.@*RESULTS@#The pedigree, including 6 patients with febrile seizures from 3 generations, was diagnosed with typical GEFS+. Among them, 2 had febrile seizures (FS), 1 had febrile seizures plus (FS+), and 3 had febrile seizures with focal seizures. High-throughput sequencing revealed that the proband has carried a heterozygous missense variant of c.4522T>A (p.Tyr1508Asn) of the SCN1A gene. Sanger sequencing confirmed that other five patients and one normal member from the pedigree have also carried the same variant, which yielded a penetrance of 85.7%.@*CONCLUSION@#The c.4522T>A (p.Tyr1508Asn) of the SCN1A gene probably underlay the disease in this pedigree. The pattern of inheritance was consistent with autosomal dominant inheritance with incomplete penetrance. Above finding has enriched the variant spectrum of the SCN1A gene.

Clinical features of mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes syndrome in twin brothers / 临床儿科杂志

Objective To explore the clinical features of mitochondrial encephalomyopathy lactic acidosis and strokelike episodes (MELAS) syndrome in fratemal twins brothers.Methods The clinical data,the results of laboratory examinations,electroencephalogram (EEG),imaging,and gene detection,and the process of diagnosis and treatment were retrospectively analyzed the fraternal twin brothers with MELAS syndrome.Results The proband,a 7-year-old male,had intermittent headaches,vomit and twitching at onset.He suffered from exercise intolerance,fatigue,accompanied by short stature and hairy.The fasting blood lactic acid level was increased.Multiple video EEG showed the slowdown of background activity.Head MRI showed recurrent lesions with the characteristics of migration and variation.The point mutation rate of mtDNA A3243G was 34.7％.The diagnosis of MELAS was confirmed.At the same time,his fraternal twin brother was screened and found that his point mutation rate of A3243G was 30.0％.Although there was no clinical symptom at that time,he was onset with convulsion after 3 years.Conclusions Gene detection and family screening are helpful for the early diagnosis of MELAS.The mutation rate of A3243G is very high,which can cause an early onset and serious clinical symptoms.

Risk factors of neurogenic pulmonary edema in the patients with severe hand, foot and mouth disease / 中国小儿急救医学

Objective To understand the risk factors of neurogenic pulmonary edema in the patients with severe hand foot and mouth disease(HFMD). Methods According to neurogenic pulmonary edema or not ,79 patients with severe HFMD were divided into two groups. The difference was analyzed on the clinical symptoms, signs,the outcomes of laboratory and electroencephalogram (EEG) examination between the two groups. Then the risk factors of neurogenic pulmonary edema was analyzed by logistic regression analysis.Results There were significant differences of the EV71 infection rate,high body temperature,myoclonia,limb weakness,the disability of eyeball regulation,tachycardia, hypertension or hypotension, the extension of capillary filling time, leucocytosist, creatine kinase isoenzyme, hyperglycaemia between two groups. However, there were no significant differences of fever, fever time, vomiting, somnolence, convulsion, limb tremor, c-reactive protein and EEG between two groups. Tachycardia, hypertension or hypotension, hyperglycaemia were significant risk factors for neurogenic pulmonary edema by logistic regression analysis. And hyperglycaemia was the most significant prognostic factor(odd ratio 27. 075, P = 0. 000 2). Conclusion Tachycardia, hypertension or hypotension,hyperglycaemia are the significant risk factors for neurogenic pulmonary edema. It is especially important for hyperglycaemia to predict neurogenic pulmonary edema.

Observation on the Effect of Zhitong(analgesic)Solution on Dilatation of Uterus in Artificial Abortion / 中医杂志

Two hundred cases of early pregnant women to receiveartificial abortion were randomly divided into 4groups,viz.analgesic solution,dicaine,normal saline,and blank control groups of which the action on dilata-tion of uterus and of mitigating the comprehensive re-actions to artificval abortion were observed.Resultsrevealed that the analgesic solution and dicaine groupshad better effect on dilatation of uterus and ameliorat-ing the reactions of artificial abortion,analgesic solu-tion was especially good at mitigating the comprehen-sive reactions to artificial abortion than the dicainegroup.