Phenotype and genotype features of 11 children with dystonia 28 caused by KMT2B variants / 中华实用儿科临床杂志

Objective:To summarize the clinical characteristics of children with dystonia 28 (DYT28) caused by KMT2B gene variations so as to improve clinicians′ understanding of the disease. Methods:The clinical manifestations, treatment and gene variation data of 11 children with DYT28 caused by KMT2B gene variations were retrospectively collected and analyzed.The subjects were recruited from the Department of Neurology, Beijing Children′s Hospital, Capital Medical University from March 2018 to January 2021.The patients were followed up. Results:There were 8 males and 3 females.The age at onset was ranging from 1 month to 6 years without inducement.Eight cases were gene-ralized dystonia and 3 cases were multifocal dystonia.The initial symptoms of 7 cases were unilateral or bilateral lower limbs tiptoeing.Four cases presented dysarthria, retching or swallowing difficulties at onset.As the disease progressed, all the cases had laryngeal dystonia, 10 cases had lower limbs dystonia, and 8 cases had upper limbs dystonia.Six cases were complicated with other dyskinesia symptoms.Ten cases had varying degrees of short stature, microcephalus, micrognathia, musculoskeletal abnormalities, intellectual disability, endocrinopathies and sleep difficulties.The brain magnetic resonance imaging showed abnormal in only 1 case.Eleven KMT2B gene pathogenic variants were found, including 8 frameshift variants, 1 in-frame variant and 2 missense variants.Four variants were novel.Eleven cases were followed up at the age of 1 year and 7 months to 17 years and 9 months.One case wasn′t given therapy.The dystonia in 3 cases was mildly improved after medication.Dysfunction of urination and defecation was disappeared in 1 case after medication.The symptom of 6 cases had no improvement after drug therapy.Among the above 6 cases, 5 drug refractory cases had deep brain stimulation, and their dystonia symptoms are all obviously improved; 2 cases had normal control of urination and defecation after deep brain stimulation.The motor scores in the Burke-Fahn-Marsden dystonia rating scale were improved by 55.8%-90.7%, and the disability scores were improved by 14.8%-69.6%. Conclusions:DYT28 caused by KMT2B gene variations is one of the most common and early-onset genetic dystonia in children.The dystonia symptom progresses from local parts to the whole body, prominently involving laryngeal muscles and lower limbs.Control of urination and defecation requires attention.Patients with mild dystonia symptoms can be effectively treated by drugs.However, patients with severe dystonia symptoms were drug refractory, and their dystonia symptoms can be effectively improved by deep brain stimulation.

Establishment and evaluation of artificial intelligence image marking method for magnetically controlled capsule gastroscopy / 中华消化杂志

Objective:To explore the marking method for magnetically controlled capsule gastroscopy (MCCG) pictures with artificial intelligence (AI), so as to improve the work efficiency of endoscopist and to reduce the blind area of AI image reading.Methods:According to the consensus of MCCG, 24 parts of stomach in 14 775 pictures of MCCG from 35 subjects in Shenzhen Zifu Medical Technology Co., Ltd received MCCG from March to August, 2020 were marked by ten gastroenterologists and one developer of MCCG with medical background, the marking shape included rectangles and polygons. Among the ten gastroenterologists, three were senior endoscopist (the total number of gastroenteroscopy operations over 80 000, chief physician or associate chief physician), four were medium seniority endoscopist (the total number of gastroenteroscopy operations between 10 000 and 80 000, associate chief physician), and three were junior endoscopist (the total number of gastroenteroscopy operations less than 10 000, attending physician). The pictures of the same subject were pre-marked by two selected senior endoscopists with blind method, and the standard of marking with most appropriate coincidence rate was determined. The qualified marked pictures were automatically learn with AI deep learning method, and the learning results were fed back. Chi square test was used for statistical analysis.Results:According to the pre-marked results, the standard of coincidence rate for rectangular marking area was set as 50.0% and that for polygon marking area was 70.0%. The first correction for qualified rate was 39.0% (5 762/14 775). A total of 9 013 pictures were corrected. After repeated training and correction for one to five times, all pictures were qualified marked. The marking qualified rate of senior endoscopist partners was higher than that of partners of different qualifications (48.7%, 1 200/2 466 vs. 19.0%, 825/4 337), and the difference was statistically significant ( χ2=659.20, P<0.001). There was no statistically significant difference in the marking qualified rate between the senior endoscopist partners and partners of senior endoscopist and capsule developer (48.7%, 1 200/2 466 vs. 49.6%, 1 496/3 019; P>0.05). Conclusions:Establishment of AI marking method for MCCG can provide technical support for AI non-blind area reading, and AI non-blind area monitoring during the operation of MCCG.

Clinical imaging features and prognosis of 40 children with influenza associated encephalopathy / 中华实用儿科临床杂志

Objective:To analyze the clinical and imaging features of influenza associated encephalopathy(IAE) in children, thus contributing to enhance the efficacy of early identification, timely treatment and prognosis.Methods:Clinical data, laboratory examination, imaging data, treatment and outcomes of 40 children with IAE diagnosed and treated in the Beijing Children′s Hospital, Capital Medical University from December 2016 to January 2020 were retrospectively analyzed.Clinical features were summarized and they were further classified according to clinical imaging features.The prognosis was compared and analyzed.Results:A total of 20 boys and 20 girls were recruited, with the age of attending hospital at (4.0±2.3) years (median, 3.2 years). There were 28 children with influenza A and 12 with influenza B. All children initially had fever, and the interval between fever and symptoms of neurological onset was 24 hours (0-120 hours). The most-common symptom of neurological onset was seizures(32 cases), among which 17 patients showed continuous seizures.All children presented encephalopathy at varying degrees, including 33 cases in coma and 7 in drowsiness or cognitive decline.Thirty cases developed central respiratory failure and received mechanical ventilation.Examination results showed 30 cases had elevated aspartate transaminase (AST), 18 cases had elevated alanine transaminase (ALT), 14 cases had elevated creatinine, 31 cases had elevated lactate dehydrogenase, 16 cases had elevated blood glucose and 1 case had significantly lowered blood glucose.Blood ammonia testing was performed in 38 children and 9 cases had elevated level.The whole exon sequencing in 6 cases showed de novo heterozygous mutation of the SCN1A gene in 1 case, and heterozygous mutation of the ATP1A2 gene inherited from the mother in another case.Lumbar puncture was performed in 35 cases, and all of them had a normal range of cerebrospinal fluid leukocyte counts, while 12 cases had elevated cerebrospinal fluid proteins.Abnormal image findings were examined in 33 cases and the acute necrotizing encephalopathy was the most common one (14 cases). All children received Peramivir or Oseltamivir after admission.A total of 28 cases were treated with glucocorticoids, and 29 cases were treated with immunoglobulin.Seventeen cases died, 9 cases had disability at varying degrees, and 14 cases recovered to the baseline.Patients were divided into good prognosis group and poor prognosis group.(1) Patients in good prognosis group presented significantly shorter interval between fever and first neurological symptoms[(22.7±12.2) h vs.(38.6± 30.9) h], higher Glasgow score on admission[(7.6±2.5) points vs.(4.5 ± 1.6) points], lower ALT [15.6 (9.0-1 631.5) U/L vs.140.2 (12.3-3 232.4) U/L] and lower AST [47.6 (25.4-1 721.3) U/L vs.251.8 (21.7-4 991.6) U/L] than those in poor prognosis group (all P<0.05). (2) Glucocorticoids were applied to 17 and 11 cases in good prognosis group and poor prognosis group, while immunoglobulins were applied to 17 and 12 cases, respectively ( P>0.05). (3) Patients were further classified into cytokine storm group, excitotoxicity group and unclassifiable group according to clinical imaging findings.The Glasgow score [ (4.6±1.7) points vs.(7.6±2.2) point vs.(7.3±2.8) points] and median modified Rankin Scale score (6.0 points vs.1.5 points vs.0) were significantly different among 3 groups (all P<0.01). Conclusions:Influenza associated encephalopathy is common in infants and young children.Fever, convulsions and rapidly progressing disturbance of consciousness are the most common clinical manifestations.Acute necrotizing encephalopathy is the most common subtype of clinical imaging syndrome.Acute onset and rapid progression predict the poor prognosis of influenza associated encephalopathy.

Clinical features and genetic characteristics of children with tyrosine hydroxylase deficiency caused by TH gene variants / 中华实用儿科临床杂志

Objective:To summarize the clinical characteristics and genetic features of tyrosine hydroxylase deficiency(THD) caused by TH gene variants for the improvement of the understanding of the disease. Methods:The clinical and genetic data of 33 children with THD caused by TH gene variants were diagnosed in the Department of Neurology of Beijing Children′s Hospital, Capital Medical University from May 2011 to January 2020 and their data were retrospectively collected and analyzed. Results:There were 19 females and 14 males.The age at onset was ranged from 0 to 6.3 years.13 patients developed diseases, accompanied with fever after infection, and 1 patient suffered from hypoxia, 19 patients suffered from no predisposing factors.There were 7 mild TH-deficient dopa-responsive dystonia cases, 16 severe TH-deficient infantile parkinsonism with motor delay cases and 10 very severe TH-deficient progressive infantile encephalopathy cases.Clinical symptoms were fluctuating, including 26 cases of diurnal fluctuation, 22 cases of infection aggravation, and 30 cases of fatigue aggravation.The initial symptoms included tiptoeing and numbness in the limbs(7 cases), motor development retardation or degression (26 cases), fremitus (8 cases), ptosis (2 cases), and status dystonicus (3 cases). Other clinical features had hypermyotonia (23 cases), hypomyotonia (27 cases), decreased movement (27 cases), decreased facial expression (24 cases), fremitus (18 cases), tiptoeing (20 cases), talipes equinovarus (7 cases), ptosis (8 cases), oculogyric crisis (10 cases), salivation (21 cases), dysphagia (12 cases), dysarthria (16 cases), dyspnea (3 cases), increased sleep (10 cases), decreased sleep (5 cases), irritable mood (15 cases), apathetic mood (2 cases), profuse sweating (8 cases), and status dystonicus (6 cases). A total of 6 patients′ right limbs were more severe, and 14 patients′ lower limbs were more severe.Eight patients had family history, and Levodopa treatment was effective for all patients.Ten patients suffered side effects, including dyskinesia and irritability.Four patients were lost follow-up, and 29 patients were followed up between 0.8 and 13.2 years old until Ja-nuary 2020.Totally, 22 patients almost had no such symptoms.Twenty-five TH gene pathogenic variants were discovered in 33 patients.There were 13 novel variants (c.1160T>C, c.1303T>C, c.887G>A, c.1084G>A, c.1097A>T, c.734G>T, c.907C>G, c.588G>T, c.992T>G, c.755G>A, c.184-6C>T, c.1510C>T, c.910G>A) and 2 patients had c. 910G>A variant.Meanwhile, there were 5 hot variants [c.698G>A(13 cases), c.457C>T(9 cases), c.739G>A(6 cases), c.1481C>T(4 cases), c.694C>T(3 cases)]. c.910G>A(2 cases) may be the foun-der variant of Chinese population. Conclusions:THD caused by TH gene variant mostly onsets from infant, with complex clinical features.Most of these patients were severe, and only a few were very severe and mild.Very severe and mild symptoms were easily misdiagnosed.Levodopa treatment was obviously effective.A possible founder variant of Chinese population (c.910G>A) was found.c.698G>A and c. 457C>T mutations mainly appeared in patients with severe and extremely severe THD, while c. 739G>A mainly appeared in patients with mild THD.

Clinical and genetic analysis of childhood-onset myoclonus dystonia syndrome caused by SGCE variants / 中华儿科杂志

Objective@#To explore the clinical characteristics and genotyping results of childhood-onset myoclonus dystonia syndrome caused by SGCE variants.@*Methods@#The clinical data of 9 children with SGCE-related myoclonus dystonia syndrome admitted at either the Department of Neurology, Beijing Children′s Hospital, Capital Medical University or the Department of Pediatrics, Peking University First Hospital from May 2018 to October 2019 were collected and the patients were followed up. The definite diagnosis was made on the basis of whole exome sequencing and multiple ligation-dependent probe amplification. The clinical features and gene test results were analyzed retrospectively.@*Results@#Data of 9 patients (4 boys and 5 girls) diagnosed as myoclonus dystonia syndrome caused by SGCE variants were collected. The onset age ranged from 1 year to 3 years and 2 months. The first symptom was myoclonus in 4 cases, while dystonia in the remaining 5 cases. In the course of the disease, 9 cases had myoclonus and 8 had dystonia. Myoclonic jerks were characterized by involuntary jerks in both upper limbs in 8 patients. Six patients had involuntary jerks of lower limbs, resulting in gait instability or even falling. The myoclonus was exacerbated during the fine motor activities, emotional stress or fatigue. Dystonia was characterized by abnormal gait, including 5 cases with right leg dystonia, and 3 cases with the left leg dystonia. Three probands had a positive family history. Intellectual development was normal in all cases. There was no obvious abnormality in video-electroencephalogram (EEG) during both ictal and interictal periods. Electromyography (EMG) and brain magnetic resonance imaging (MRI) of 9 patients were normal. Nine patients carried SGCE gene variants, including 3 frame shift variants, 2 nonsense variants, 2 missense variants, 1 fragment deletion variant and 1 splice site variant. Seven variants were inherited paternally, and 2 variants were de novo. Madopar was used in 8 patients, and nitrazepam in 4 patients, leading to the decrease in the myoclonus jerks and improvement of gait in 6 and 2 patients, respectively.@*Conclusions@#SGCE gene variants can cause myoclonus dystonia syndrome. The onset of the disease may occur at infancy or preschool age, with either myoclonic jerks or dystonia as the initial symptom. Non-epileptic myoclonus is the prominent symptom, with upper limb mainly involved. Most of the patients have the accompanying symptoms of dystonia, and some of them may have spontaneous symptom relief. SGCE gene is imprinted maternally, and the inherited variants of SGCE are paternal in origin.

Prognosis and follow-up study of 670 pediatric patients with Dravet syndrome / 中华实用儿科临床杂志

Objective:To follow up and clarify the prognosis of 670 pediatric patients with Dravet syndrome (DS).Methods:The clinical data of DS pediatric patients treated in the Department of Pediatrics, Peking University First Hospital from February 2005 to August 2016 were recorded, and genetic testing was carried out.DS pediatric patients were followed up via subsequent visits at the outpatient and telephone interview.Results:Among 670 cases with DS, 556 cases (556/670 cases, 83.0%) carried SCN1A mutations.In the follow-up, 608 cases were contacted (608/670 cases, 90.7%) and 62 cases (62/670 cases, 9.3%) were lost.The last follow-up median age was 8 years 5 months.Eighty-two cases (82/608 cases, 13.5%) were seizure-free for more than 1 year, with a median age of 9 years and 2 months.Thirty-eight cases relapsed (38/82 cases, 46.3%), mainly induced by fever (34 cases) or mi-ssing antiepileptic drugs (2 cases). Analysis of the relative factors of patients that were seizure-free for more than 1 year showed that children with missense SCN1A mutations, inherited mutations and an older age had a relatively good outcome for seizure control.Twenty-five cases (25/608 cases, 4.1%) were deceased, with a median age of 4 years.The mortality factors included multiple organ dysfunction syndromes after prolonged status epilepticus (12 cases), possible sudden unexpected death in epilepsy (7 cases), asphyxiation after vomiting with or without a seizure (2 cases), and an accidental injury (1 case). The fatal causes in the remaining 3 cases were unknown. Conclusions:DS is an intractable epileptic syndrome, but few patients may have a seizure remission (seizure free for more than 1 year). Patients with mi-ssense SCN1A mutations, inherited mutations and an older age have a relatively good outcome for seizure control.The mortality rate is high in DS patients.The causes of mortality include multiple organ dysfunction syndromes after prolonged status epilepticus, possible sudden unexpected death in epilepsy, and so on.

Progress in diagnosis and treatment of status dystonicus in children / 中华实用儿科临床杂志

Children′s status dystonicus is a nervous system emergency with high mortality and lacking clinical knowledge.Trigger avoiding as well as early recognition and treatment is important for improvement of symptoms and reducing mortality.In this article, the etiology, diagnosis, antidiastole, treatment and prognosis of status dystonicus in children were reviewed.

Clinical features of 19 children with Bickerstaff brainstem encephalitis / 中华儿科杂志

Objective@#To summarize the clinical features of Bickerstaff brainstem encephalitis (BBE) in children.@*Methods@#In this retrospective study, data of 19 patients with BBE (11 males and 8 females) were collected from Department of Neurology, Beijing Children′s Hospital from October 2015 to January 2018. The clinical features, treatment and prognosis were analyzed.@*Results@#The onset age of BBE ranged from 1 year and 8 months to 12 years and 11 months. There were 18 cases with preceding infection. The most common infection was upper respiratory tract infection (9 cases), followed by simple fever (5 cases). The most common initial neurological symptoms were lethargy or disturbance of consciousness (8 cases), followed by limb weakness (5 cases). There were 6 cases of simple BBE and 13 cases of BBE overlapping Guillain-Barré syndrome (GBS). Besides the characteristic triad of altered mental status, ataxia, and ophthalmoplegia, there were other symptoms including convulsion (5 cases), diplopia (3 cases), nystagmus (7 cases), facial muscular weakness (7 cases),bulbar palsy (13 cases) and autonomic nerve symptoms (9 cases). Hypo or areflexia was seen in 16 cases. Positive Babinski′s signs were seen in 8 cases. Hyponatremia was present in 10 cases in whom 4 showed severe hyponatremia. Albumin-cytological dissociation of cerebrospinal fluid was seen in 10 cases. The autoimmune antibodies were examined in all 19 patients. Anti-ganglioside antibodies including anti-GM1 IgG antibody was positive in 2 patients and one of whom was also found with positive anti-GD1b IgG antibody. Anti-GQ1b IgG antibody was present in 2 patients. Electromyography was performed in 14 cases and 8 cases, who were all BBE overlapping GBS, showed neurological damage. A total of 16 cases were monitored by video electroencephalography and 8 cases showed slow waves of background. In addition to, interictal focal discharge was detected in 2 cases. T2 fluid-attenuated inversion recovery (FLAIR) sequence abnormal signals were detected in 3 of 18 cases performed brain magnetic resonance imaging (MRI), and lesions involved with brainstem, basal ganglia, thalamus, cerebellum, corpus callosum and cerebral cortex. Lesions involved cervical and thoracic spinal cord were found in 1 out of 11 cases for whom spinal cord MRI was performed. All of the 4 cases who underwent enhanced MRI of spinal had partial nerve roots enhancement. All of the 19 patients received 1 to 2 courses of intravenous immunoglobulin therapy, and 2 cases also received plasma exchange. Fifteen cases received steroid therapy. The following-up period ranged from 3 months to 2.5 years. Two cases were lost to follow-up. Twelve cases achieved a full recovery within 3 months. Three cases recovered within 6 months. One case still had slight limb weakness and ataxia after 1 year and 8 months of follow-up, and another case had left autonomic nerve symptoms in the follow-up of 2 years and 3 months. Both of them were BBE overlapping GBS.@*Conclusions@#Children′s BBE is similar to that in adults, and is frequently found overlapped with GBS. Furthermore, it is sometimes accompanied by central nervous system demyelination disease. The antiganglioside antibodies are not often detectable. Immunoglobulin therapy could usually achieve good response. The prognosis of simple BBE is good in most situations. For BBE overlapping GBS, the more severe the limb weakness during the peak of disease is, the slower the recovery would be.

Clinical and genetic characteristics of focal epilepsy in children caused by GATOR1 complex gene variation / 中华儿科杂志

Objective@#To summarize the clinical and genetic characteristics of focal epilepsy in children caused by GATOR1 complex gene variation.@*Methods@#The clinical data, gene variation and treatment outcome of 12 children with focal epilepsy caused by GATOR1 complex gene variation admitted to Beijing Children′s Hospital Affiliated to Capital Medical University from June 2016 to October 2018 were retrospectively analyzed.@*Results@#There were 7 males and 5 females in 12 cases. The epilepsy onset age was 5.5 (3.0, 12.0) months, and from 11 days to 16 months of age. The epileptic seizure types were all focal motor seizures, and one case combined with epileptic spasms. The frequency of seizures in all patients was more than one time per day. Seven cases had frontal lobe epilepsy and two cases had lateral temporal lobe epilepsy. One case had a family history of febrile seizures and two had a family history of suspicious epilepsy. Epileptic form discharges were observed in 9 patients during the interictal phase by electroencephalograms (EEG), and all of them were focal discharges. Eight cases had clinical seizures detected by EEG, in 4 of whom the seizures were originated in frontal region. There were no abnormalities in brain magnetic resonance imaging in 11 cases whereas 1 case had malformation of cortical development of left frontal lobe. Eight patients had DEPDC5 gene variation, one had NPRL2 gene variation, three had NPRL3 gene variation. One case had de novo variation and the other 11 had hereditary variation. There were 11 types of gene variation, including 5 nonsense variations, 3 missense variations, 2 frame shift variations and 1 in frame deletion variation. There was no clear relationship between the clinical phenotype and the genotype. During the follow-up period from 6 months to 2 years and 6 months, 6 cases had seizure control, 3 of them were controlled by oxcarbazepine. The other 6 cases had drug-refractory epilepsy, 2 of them failed with vagus nerve stimulation and ketogenic dietary therapy as well, meanwhile combined with mental retardation.@*Conclusions@#GATOR1 complex gene variation can lead to genetic focal epilepsy, which usually has early onset with frequent seizures. Most of the patients have focal epileptic form discharges on EEG, and there is usually no structural lesion in brain imaging. Most of the patients have hereditary loss-of-function variations. Approximately half of cases are drug-resistant epilepsy.

Clinical phenotypes of TBC1D24 gene related epilepsy / 中华儿科杂志

Objective@#To summarize the clinical features of TBC1D24 gene mutations associated with epilepsy.@*Methods@#All the patients with TBC1D24 gene compound heterozygous mutations were retrospectively collected at the Pediatric Department of Peking University First Hospital from March 2015 to July 2017, and the features of clinical manifestations, electroencephalogram, and neuroimaging were analyzed.@*Results@#Eighteen cases with TBC1D24 gene compound heterozygous mutations were included. The age of seizure onset was 1 day to 8 months, and the median age was 90 days. Seizure types included generalized tonic-clonic seizures (GTCS) in 3 cases, focal seizures in 18 cases, myoclonus in 18 cases, and 17 cases had focal myoclonus and myoclonus status. The focal myoclonus involving one or multiple muscle groups, sometimes migrating and alternating, lasting up to minutes to several days, and could be terminated by sleep or sedation drugs. In 11 cases, myoclonus was exacerbated by fever or infections, and 2 cases developed into myoclonic status during infection, in a severe case with the loss of consciousness. The magnetic resonance imaging (MRI) of seven patients was abnormal, including cerebral atrophy or cerebellar atrophy with abnormal signals. Segment myoclonus was captured in 10 patients, but without correlated epileptiform discharges. There were ten cases had varying degrees of developmental delay, 7 were normal, and one patient died of status epilepticus at the age of 4 months. Three cases had hearing disorders. In the 18 patients, the clinical phenotype of 4 cases consisted of epilepsy of infancy with migrating focal seizures, 2 with progressive myoclonus epilepsies, 1 with Dravet syndrome, 1 with DOORS syndrome, and 3 with unclassified epileptic encephalopathy.@*Conclusions@#The clinical feature of TBC1D24 gene mutation related epilepsy was focal myoclonus, and tended to develop into myoclonic status epilepticus, and could be aggravated by infections, and terminated by sleep or sedation drugs. Mental retardation involved or not, neuroimaging could present with cerebral atrophy or cerebellar atrophy with abnormal signals.

Nursing for the different postoperative residual urine of patient with pelvic floor dysfunction / 现代临床护理

Objective To discuss the nursing for the different postoperative residual urine of patient with pelvic floor dysfunction.Method To evaluate the nursing for the postoperative residual urine of patient with pelvic floor dysfunction and the time of urinary catheters inserted,We completed a retrospective review of 138 adult patients.Results ①Toally 138 participants were categorized into 3 groups:74 (53.6％) patients carried a residual volume ＜ 100ml,53 (38.4％) patient did 100～300ml,11 (8.0％)did ＞300ml.②About11 patients who were able to void but carried a residual volume ＞300ml required indwelling catheterization.In these cases,100％ carried a residual volume ＜ 100ml after indwelling urinary catheter extraction (IUCE) after 4～5 days.③About 53 patients who were able to void but carried a residual volume between 100ml to 300ml received urine nursing,phychological nursing and bladder function exercise.Two days after IUCE 41 (77.4％) patients' residual volume was ＜100ml;three days after IUCE 11 (20.7％) patients' residul volume was ＜100ml;five days 1 patiens' residul volum was ＜100ml.Conclusion When a postvoid residual＞300ml,the patient should be performed catheterization,When a postvoid residual between 100ml to 300ml,the nurse should give the patient mental easing and teach them to perform pelvic floor muscle exercise.This can reduce the suffering of patients.

Effect of group management mode on compliance of pelvic floor function exercise for patients with post ;partum urinary incontinence / 中国实用护理杂志

Objective To explore the effect of group management mode on compliance of pelvic floor function exercise for patients with post partum urinary incontinence (PPUI). Methods A total of 80 cases of patients with PPUI were randomly divided into the observation group and the control group. Patients in the control group received one-to-one routine health guidance. Patients in the observation group received group management mode including special subject teaching guidance, induction and communication between patients. Three months after the intervention, two groups of patients were evaluated at six months after postpartum by the pelvic floor muscle strength, one-hour urine pad test and pelvic floor muscle function exercise compliance. Results Six months after postpartum, the cure rate of the pelvic floor muscle strength was 100%(40/40) for typeⅠmuscle, 100%(40/40) for typeⅡmuscle in the observation group. In the control group, the cure rate for typeⅠmuscle was 70%(28/40) and 65%(26/40) for type Ⅱmuscle. The difference between these two groups was statistically significant (χ2=14.118, 16.970, P=0.000). The total effective rate of urinary incontinence was 100.0%(40/40) in the observation group, 67.5% (16/40) in the control group, and there was statistical significance (χ2=25.232, P=0.000). Evaluation of the compliance of pelvic floor function exercise showed that the rates were 72.5% (29/40) for complete compliance, 27.5%(11/40) for incomplete compliance and 0 for total non-compliance in the observation group. In the control group, these rates were 2.5%(1/40), 55.0%(22/40), 42.5%(17/40). And there was statistical significance as well (χ2=54.847, P=0.000). Conclusions Group management mode can improve the compliance of pelvic floor muscle function exercise and the strength of pelvic floor muscle, and improve the degree of urinary incontinence in postpartum patients with urinary incontinence.

Study on mosaicism of SCN1A gene mutation in parents of children with Dravet syndrome / 中华儿科杂志

Objective@#To investigate the clinical phenotypes and the mutant allele proportion of parents with SCN1A gene mutation mosaicism of Dravet syndrome (DS) children, thus to provide guidance for family reproduction and prenatal diagnosis.@*Method@#The clinical data and peripheral blood DNA samples of DS patients with a SCN1A gene mutation proved by Sanger sequencing were collected prospectively from February 2005 to November 2016 in Department of Pediatrics, Peking University First Hospital. The same mutation was searched in parents and other available relatives. Parental somatic mosaicism was confirmed and quantified by Ion Torrent Personal Genome Machine (PGM) and Raindrop droplet digital PCR (ddPCR). The families were followed up and prenatal diagnosis was provided.@*Result@#Mosaicisms of SCN1A gene mutation in parents were identified in 5.2% (30 out of 575) DS families. Seventeen were fathers and thirteen were mothers. The mutant allele proportion ranged from 1.7% to 32.9% by PGM and from 0.82% to 34.51% by ddPCR, respectively. In 30 parents with somatic mosaicism, thirteen were asymptomatic, ten had a history of febrile seizures (FS), five with epilepsy, one with febrile seizure plus and one had a history of afebrile seizure. Four families had two children with DS. Three siblings of the probands were confirmed genetically with the same pathogenic mutation. One deceased sister of the proband was assumed to have the same pathogenic mutation because she matched DS diagnosis after medical history review despite no blood sample. Two families received prenatal diagnosis. One second pregnancy was terminated because the fetus inherited the mutation as the mother's wish.@*Conclusion@#Sanger sequencing detects parents of some children with DS are SCN1A mutation mosaics. PGM and ddPCR can be used for accurate quantification of mutant mosaics, which can provide accurate guidance for family genetic counseling.

Clinical and neuroimaging features of acute encephalopathy after status epilepticus in Dravet syndrome / 中华儿科杂志

Objective@#To investigate the clinical and neuroimaging characteristics of acute encephalopathy (AE) after status epilepticus (SE) of patients with Dravet syndrome (DS).@*Method@#The clinical data of DS patients who had AE (coma ≥24 h) after SE were retrospectively collected from February 2005 to August 2016 in Peking University First Hospital and SCN1A gene tests were performed.The clinical and neuroimaging features were summarized.@*Result@#Twenty-two patients (9 males and 13 females) with AE were collected among 412 DS patients during follow-up.Of which 18 patients had SCN1A gene mutations while the remaining 4 patients had no SCN1A gene mutations.The onset age of AE was between 6 months and 10 years.The duration of SE varied between 40 minutes and 9 hours.Prior to the onset of SE, twenty-one patients had high fever, and one patient had normal temperature.Coma lasted from 2 days to 20 days.Nine patients died after the AE, and 13 patients survived with massive neurological regression.From AE to the last visit, the median time of follow-up was 2 years and 3 months (from 7 months to 4 years and 4 months). Nine of 13 survivors had varied improvement in motor, language and cognition, while the remaining 4 patients had no significant improvement.After AE, there were 6 patients with seizure-free, 4 patients with reduced seizures, and 3 patients with no change in seizure frequency, moreover, spasm occurred in 2 patients.Six patients had brain magnetic resonance imaging (MRI) in acute phase and showed bilateral (2 patients) or unilateral (4 patients) hemisphere edema, accompanied by subcortical white matter hyperintense signal in T1 and T2 weighted images in two patients.The neuroimaging of 13 survivors demonstrated diverse cortical atrophy during recovery phase, among which 4 patients showed cerebellar atrophy, one patient had right pontine atrophy, 4 patients accompanied by signal abnormalities in subcortical and periventricular white matter, 2 patients showed right hippocampal sclerosis, and one patient showed signal abnormalities in bilateral basal ganglia.@*Conclusion@#SE is more prone to occur in Dravet patients who have high fever.It may result in AE or even death in severe cases.Survivors will leave severe neurological sequelae.The neuroimaging shows brain edema in acute phase.In recovery phase the neuroimaging shows diverse brain atrophy, moreover, a few patients may be associated with cerebellar or pontine atrophy, hippocampal sclerosis or abnormal signals in white matter or basal ganglia.

Study on the causative genes and analysis of genotypes and phenotypes of Dravet syndrome / 中华实用儿科临床杂志

Objective To identify the rare causative genes of Dravet syndrome (DS) in patients who do not have SCN1A mutation and to analyze genotypes and phenotypes of DS patients with different rare causative genes.Methods DS patients were collected from the Pediatric Department of Peking University First Hospital from February 2005 to August 2016.SCN1A and PCDH19 gene mutations were screened by Sanger sequencing and multiple ligation-dependant probe amplification (MLPA).Next generation sequencing (NGS) for epilepsy-related gene-panel was applied to SCN1A and PCDH19 mutation-negative patients.The phenotypes of DS patients with different rare causative genes were analyzed.Results Six hundred and seventy patients with DS were collected and 556 patients (83.0％)carried SCN1A mutations and 6 patients with PCDH19 mutations.Epilepsy-related gene-panel was applied to remain 108 patients without SCN1A or PCDH19 mutation,and among them 12 patients were detected with 6 rare causative genes,with heterozygous mutations in GABRA1 mutations in 3,GABRG2 in 2 cases,GABRB2 mutations in 2 cases and SCN2A mutation in 1 case,complex heterozygous mutations in TBC1D24 in 2 cases and ALDH7A1 in 2 cases.The clinical phenotypes of 6 patients with PCDH19 mutations were featured by clustering of repeated seizures with short periods of times,only 1 case had an episode of status epilepticus.Patients with GABRB2 mutations had a relatively better outcome of seizure control.Many episodes of myoclonic status were emerging as hallmark features in patients with TBC1D24 mutations.Vitamin B had a dramatic therapeutic effect in patients with ALDH7A1 mutations.The clinical phenotypes of DS patients with GABRG2,SCN2A and GABRA1 had no obvious specificity.Conclusions The rare causative genes in DS patients include PCDH19,GABRG2,SCN2A,GABRA1,GABRB2,TBC1D24 and ALDH7A1.The finding of causative genes GABRB2 and TBC1D24 may enrich the gene spectrum of DS.Patients with PCDH19 mutations are featured by clustering of repeated seizures with short periods of time and rare status epilepticus.Patients with GABRB2 mutations have a relatively better outcome of seizure control.Many episodes of myoclonic status are emerging as hallmark features in patients with TBC1D24 mutations.

Analysis of SCN1A deletions or duplications in patients with Dravet syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To determine the type and frequency of SCN1A deletions and duplications among patients with Dravet syndrome (DS).</p><p><b>METHODS</b>For DS patients in which no mutations of the SCN1A gene were detected by PCR-DNA sequencing, SCN1A deletions and duplications were detected by multiplex ligation-dependent probe amplification (MLPA).</p><p><b>RESULTS</b>In 680 DS patients, 489 had SCN1A mutations identified by PCR-DNA sequencing. In 191 patients who were negative for the SCN1A PCR-DNA sequencing, 15 (15/191, 7.9%) were detected with heterozygous SCN1A deletions or duplications, which included 14 (14/15, 93.3%) SCN1A deletions and 1 SCN1A duplication. There were 13 types of mutations, including whole SCN1A deletions in 3 patients, partial SCN1A deletions in 11 patients and partial SCN1A duplications in one patient. By testing the parents, 14 mutations were found to be de novo. For the remaining case, no SCN1A deletion or duplication was found in the mother, while the father was not available.</p><p><b>CONCLUSION</b>Approximately 8% of Chinese patients who were negative for SCN1A mutation by PCR-sequencing have SCN1A deletions or duplications. The MLPA analysis should be considered as an important strategy for such patients. SCN1A deletions are more common than SCN1A duplications among DS patients, and the most common types are whole SCN1A deletions. The majority of SCN1A deletions or duplications are de novo.</p>

Psychological experience of nurses as the relatives of patients with malignant tumors:a qualitative study / 现代临床护理

Objective To explore psychological experience of nurses as the relatives of patients with malignant tumors in order to carry out mental care to malignant tumor patients as well as their family members. Method Nine nurses whose family members were malignant cancer patients were interviewed. Results As the relatives of malignant cancer patients, all the nine nurses presented with anxiety and fear. They were lack of ways to relieve negative emotions, desperate for more information and worried uncertainties about future and medical fees. Conclusion In order to offer better nursing experience, it is necessary for nurses to change ideas and improve recognition in order to establish a psychological supportive system for patients′ relatives in different phases and a social supportive system and fulfill their requirements for knowledge, which can thus help patients and their relatives out of the predicament.

Inborn errors of metabolism and epilepsy in children / 中华实用儿科临床杂志

Epilepsy is a common disorder of neurological system in children.Inborn errors of metabolism (IEMs) is one of an important etiology of epilepsy.Seizures may be the first and the major presenting feature of IEMs.IEMs are a relatively rare cause of epilepsy,but their recognition and diagnosis is very important because several disorders are treatable.This review will concentrate on diseases where epilepsy is the predominant clinical manifestation and especially where the disease course can be positively influenced by specific metabolic therapies.

The system assessment of infliximab in treatment of severe alcoholic hepatitis / 中国医师进修杂志

Objective To systematic review the clinical efficacy and safety of infliximab in treatment of severe alcoholic hepatitis (SAH).Methods The electronic database of PubMed,EMbase,Web of Science,OVID and Cochrane systematic review database,CBM disc and CNKI from building the database until March 2013 were retrieved.With SAH,severe alcoholic hepatitis,infliximab and tumor necrosis factor as key words or free words.Randomized-controlled trials (RCT) on infliximab in treatment of SAH was selected and analyzed by Meta analysis.Results Two RCTs was enrolled,included 56 SAH patients.Infliximab (10 mg/kg) combined with glucocorticoids (40 mg/d) might accelerate death because of the high prevalence of serious infections.Infliximab (5 mg/kg) combined glucocorticoids (40 mg/d) had more tolerability and improved patient's Maddrey scores significantly.Conclusions Existing clinical evidence suggest that it is short of evidence for the clinical efficacy and safety of infliximab.It need guide by large sample of clinically and different doses RCT.

Construction of recombinant yeast expressing PreS2120-146 and hepatitis B surface antigen and evaluation of the immune effects of whole yeast cells / 中华传染病杂志

Objective To construct the recombinant yeast expressing PreS2 120-146-hepatitis B surface antigen (HBsAg),and to evaluate the immune effects of whole yeast cells.Methods PreS2 120-146 and HBsAg gene sequence were optimized according to the yeast cell codon preference,and were recombined and cloned into pPIC3.5K yeast expression vector to construct pPIC3.5K/PreS2 120-146 plasmid.After digested and linearized by Bgk Ⅱ restriction enzyme,pPIC3.5K/PreS2 120-146-HBsAg recombinant plasmid was electrotransformed into GS115 strain to screen PreS2 120-146-HBsAg-recombinant Pichiapastoris .The expression of PreS2 120-146-HBsAg was identified by sodium doclecyl sulfate polyacrylamide gel electrophogesis (SDS-PAGE),Western blot and enzyme linked immunosorbent assay (ELISA)analysis. BALB/c mice were vaccinated by inactivated whole recombinant yeast cells expressing target protein. Specific antibodies to HBsAg were detected by ELISA.Cytotoxic T lymphocyte (CTL)response induced by interferon (IFN)-γ was detected by reverse transcription-polymerase chain reaction (RT-PCR)when immune spleen cells of mice were stimulated by CTL epitope on HBsAg.Independent sample t test was used. Results Data of PCR detection,restriction enzyme digestion and sequencing analysis showed that recombinant pPIC3.5K/PreS2 120-146-HBsAg plasmid was successfully constructed.SDS-PAGE,Western blot and ELISA verified the expression of PreS2 120-146-HBsAg in the lysate of the recombinant Pichiapastoris induced by methanol.Levels of specific anti-HBsAg IgG antibodies produced by inactivated yeast cells vaccinated mice were comparable to purified HBsAg immunization (t =0.946,P =0.381 ). Analysis of HBsAg-specific CTL responses revealed that the level of IFN-γwas significantly higher when the immune spleen cells of mice were stimulated by CTL epitope peptides on HBsAg (t =2.305 ,P =0.044).Conclusions PreS2 120-146-HBsAg target protein is successfully expressed by construction of recombinant Pichiapastoris . The specific humoral and cellular immune responses are induced by recombinant whole yeast cells vaccinated mice.