A case of congenital myopathy caused by the SPEG gene mutation / 中华实用儿科临床杂志

Clinical data of a child with congenital myopathy caused by the SPEG gene mutation diagnosed in the Children′s Hospital of Nanjing Medical University in March 2020 were retrospectively analyzed, and the relevant literature was reviewed.A 13-year-old female child with lagged motor development since childhood, weakness of both lower extremities for 10 years, and slow progression of disease.Physical examinations showed gait swinging, mild hypertrophy of gastrocnemius, positive Gower sign, grade Ⅴ distal muscle strength of both lower extremities, and grade Ⅳ proximal muscle strength.The electromyography showed myogenic damage changes.Her 11-year-old sister presented similar symptoms of muscle weakness.Gene sequencing revealed compound heterozygous mutations in the SPEG gene, with the newly reported mutation sites at c. 3715+ 4C>T and c. 3588delC, which had not been reported at home and abroad.This study for the first time reported a case of congenital myopathy caused by the SPEG gene mutation in China, which differed from previous cases accompanied cardiomyopathy.This case report expanded the mutation spectrum of the SPEG gene.

A de novel mutation of the HSD17B4-related peroxisome D-bifunctional protein deficiency in a family and literature review / 中华实用儿科临床杂志

Objective:To investigate the clinical and genetic characteristics of peroxisome D-bifunctional protein deficiency (PDBPD) associated with HSD17B4 mutation. Methods:The clinical and genetic characteristics of 2 cases of PDBPD in August 2020, at Children′s Hospital Affiliated to Nanjing Medical University caused by HSD17B4 gene mutation were retrospectively analyzed. Results:Male proband and his sister suffered from neonatal epilepsy, psychomotor development disorders, ataxia, myasthenia, hearing impairment, and foot deformity.The very long chain fatty acids in serum were normal, and brain magnetic resonance imaging (MRI) showed bilateral cerebellar hemisphere atrophy.Electromyography suggested changes in the myoelectricity of multiple peripheral neurogenic lesions.Auditory evoked potential displayed severe bilateral sensorineural hearing loss.Exome sequencing identified compound heterozygous mutations (c.1171G > C, c.686-2A>T) in HSD17B4.The clinical diagnosis was PDBPD, aged 8 and 14 years, respectively. Conclusions:Two cases of HSD17B4 mutation-induced PDBPD were first reported in Chinese mainland, which was in line with its typical clinical manifestations.The newly discovered c. 1171G> C and c. 686-2A>T mutations enriched the HSD17B4 mutation spectrum.

Clinical and imaging features of 13 children with myelin oligodendrocyte glycoprotein antibody encephalomyelitis / 中华实用儿科临床杂志

Objective@#To investigate the clinical and imaging features of myelin oligodendrocyte glycoprotein antibody(MOG) encephalomyelitis in children.@*Methods@#The clinical, laboratory finding, imaging and follow-up data of 13 children with MOG encephalomyelitis (MOG-EM) diagnosed by Children′s Hospital of Nanjing Medical University from December 2016 to December 2018 were retrospectively analyzed.@*Results@#Among the 13 children, 4 cases were male and 9 cases were female, the median age was 8 years old and 1 month.Symptoms of the first episode included fever, drowsiness in 2 cases, visual acuity in 5 cases, convulsions in 3 cases, urinary retention in 2 cases, and ataxia in 2 cases.Abnormalities were found in 12 cases by the head magnetic resonance imaging(MRI), most of which showed extensive or isolated subcortical white matter lesions, and a few deep gray matter nuclei and brainstem were involved; 3 cases of spinal MRI abnormalities, mainly characterized by long segmental transverse myelitis; 6 cases optic nerve MRI abnormalities were found in 6 cases, manifested as disease side optic nerve or optic chiasm abnormal signals; the titer of serum MOG antibody was 110-1320 in 13 cases.All children responded well to glucocorticoids and gamma globulin, and all symptoms were alleviated after treatment.Two patients had recurrence during the follow-up period, which was characterized by optic neuritis.After azathioprine addition, there was no recurrence after 1 to 2 years of follow-up.@*Conclusions@#Children with MOG antibody encephalomyelitis present a decline in visual acuity commonly.The images are mainly acute disseminated encephalomyelitis-like changes, immunosuppressive therapy is effective, generally with a better prognosis.

Clinical and imaging features of 13 children with myelin oligodendrocyte glycoprotein antibody encephalomyelitis / 中华实用儿科临床杂志

Objective To investigate the clinical and imaging features of myelin oligodendrocyte glycoprotein antibody(MOG)encephalomyelitis in children. Methods The clinical,laboratory finding,imaging and follow-up data of 13 children with MOG encephalomyelitis(MOG-EM)diagnosed by Children＇s Hospital of Nanjing Medical Univer-sity from December 2016 to December 2018 were retrospectively analyzed. Results Among the 13 children,4 cases were male and 9 cases were female,the median age was 8 years old and 1 month. Symptoms of the first episode included fever,drowsiness in 2 cases,visual acuity in 5 cases,convulsions in 3 cases,urinary retention in 2 cases,and ataxia in 2 cases. Abnormalities were found in 12 cases by the head magnetic resonance imaging(MRI),most of which showed ex-tensive or isolated subcortical white matter lesions,and a few deep gray matter nuclei and brainstem were involved;3 ca-ses of spinal MRI abnormalities,mainly characterized by long segmental transverse myelitis;6 cases optic nerve MRI ab-normalities were found in 6 cases,manifested as disease side optic nerve or optic chiasm abnormal signals;the titer of serum MOG antibody was 1: 10-1: 320 in 13 cases. All children responded well to glucocorticoids and gamma globu-lin,and all symptoms were alleviated after treatment. Two patients had recurrence during the follow-up period,which was characterized by optic neuritis. After azathioprine addition,there was no recurrence after 1 to 2 years of follow-up. Conclusions Children with MOG antibody encephalomyelitis present a decline in visual acuity commonly. The images are mainly acute disseminated encephalomyelitis-like changes,immunosuppressive therapy is effective,generally with a better prognosis.

The short-term prognostic evaluation in first-drug therapy outcome in children with absence epilepsy / 中华实用儿科临床杂志

Objective To observe the initial therapy outcomes of Valproic acid for childhood absence epilepsy (CAE),and to assess its therapeutic reaction and short-term prognosis,and to investigate the risk factors for initial therapy failure.Methods From January 2010 to December 2015,absence seizures as key words were used to search CAE in the video-electroencephalogram(VEEG) database of Children's Hospital Affiliated to Nanjing Medical University.Sixty-seven children fulfilled the CAE diagnosis criteria of International League Against Epilepsy in 1989.These patients were separated into 2 groups based on the therapy outcome after 6 months,including seizure control failure group and seizure control group.The patients' clinical characteristics and VEEG characteristics were reviewed.The gender,age of seizure onset,a family history of epilepsy or febrile seizures (FS),consistent with 2005 Panayiotopoulos diagnostic criteria,and VEEG findings were analyzed to evaluate the predictive ability of independent variables and the relationship between these features and treatment outcomes by using a stepwise multivariate Logistic regression model.Results The age at seizure onset was (5.89 ± 2.91) years old,and follow up duration was 6 months.Approximately 23 cases (34.3％) of CAE patients had poor response.No statistical correlation was made for gender,age at onset,the occurrence of generalized tonic clonic seizures,and family history of FS or epilepsy between 2 groups (all P ＞0.05).Compared with seizure control group,patients of the seizure control failure group had significantly higher rates of focal epileptic discharge (87.0％ vs.6.8％),higher rates of intermittent photic stimulation (IPS) induced seizures (52.2％ vs.6.8 ％),fewer rates of occipital intermittent delta activity (8.7 ％ vs.77.3 ％),and fewer rates of patients met the new diagnostic criteria proposed by Panayiotopoulos in 2005 (8.7％ vs.88.6％) (all P ＜ 0.001).The presence of occipital intermittent rhythmic delta activity during wake stage and the interictal focal epileptiform discharges on VEEG during sleep stage were significantly associated with the therapy outcomes in a multivariable Logistic regression analysis (OR =133.714,P ＜ 0.05;OR =0.068,P ＜ 0.05).Conclusions The presence of focal epileptiform discharges,and a typical absence induced by IPS are important factors for first-drug treatment failures with CAE,and conversely the occipital intermittent rhythmic delta activities have a good efficacy.There is no statistical correlation between clinical characteristics and treatment outcomes.

X-ray-gulded three-lumen nasogastrojejunal tube in postsurgical gastroparesis syndome / 中华全科医师杂志

.All patients cured.Three-lumen nasogastrojejunal tube placed under X-ray monitoring proves to be a safe, convenient, highly tolerable and effective procedure.

The diagnosis and treatment of early postoperative inflammatory ileus / 中华全科医师杂志

To investigate the clinical features and principles of diagnosis and treatment of early postoperative inflammatory ileus (EPII). The clinical data of 69 patients with EPII treated in this hospital were retrospectively reviewed. EPII mostly occurred in 3-11d after abdominal surgery, and the average time was 5d. Sixty two cases were cured in a mean period of (22±13)d through combination therapy including gastroenteral decompression, somatostatin, dexamethasone and total parenteral nutrition (TPN). Seven cases were cured by operation. EPII is a special type of early intestinal obstruction which often occurs in two weeks after abdominal operation. Its typical symptoms are abdominal distension; conservative therapy is effective for most cases and reoperation is usually contradicted.

Involvement of mitochondrial pathways of apoptosis in hippocampus apoptosis in kainic acid induced epilepsy rat / 医学研究生学报

Objective:To investigate the hippocampus neuron injury,mitochondrial function and mitochondrial apoptosis related protein expression in kainic acid(KA) induced epilepsy rat,and to explore the role of mitochondrial pathways of apoptosis in the neuron injury.Methods:KA induced epilepsy model was produced by injection of KA into the hippocampus.Forty SD rats were randomly divided into five groups: control and KA group(6 h,1 d,3 d and 7 d),n=32.The concentration of Glu in hippocampus CA3 area was detected by HPLC.The apoptosis of hippocampus neurons and the concentration of free calcium ion were assayed by flow cytometry.The expression of cytochrome C and caspase-9 in hippocampus CA3 area was determined by Western blot.Results: ①The concentration of Glu in hippocampus CA3 area was increased in the fourth day after KA injection.②The concentration of free calcium ion,mitochondrial membrane potential,and the number of apoptosis neurons was significantly changed after 6 h of KA injection.Seven days after KA injection,these changes were more significant.③The hippocampus neuron expressed low levels of cytochrome C and caspase-9,and the expression of cytochrome C and caspase-9 was dramatically increased in a time dependent manner which increased by 4.37and 3.20 fold 7 d after KA injection.Conclusion:Mitochondrial pathways of apoptosis involve in hippocampal neuron apoptosis in KA induced epilepsy rat.