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The clinical data of a case of paroxysmal extreme pain disorder(PEPD) in Guangdong 999 Brain Hospital were retrospectively analyzed.The male patient, age of first examination was 7 months, began to have recurrent tonic accompanied by facial redness or cyanosis at 5 months after birth.The patient was diagnosed with epilepsy.The oral solution of sodium valproate and Levetiracetam were not effective.The video electroencephalogram examination displayed that, when the patient had tonic and bradycardia, the synchro electroencephalogram did not show epileptic discharge, so the patient was considered to have non-epileptic tonic.Genetic examination suggested that SCN9A gene mutation of c. 5240T >C resulted in amino acid changes: Val1747Ala.Combined with the skin changes, the patient was diagnosed as PEPD caused by SCN9A gene mutation.After the treatment with Carbamazepine, the patient′s abnormal skin changed and his-epileptic tonic disappeared, and his condition improved significantly.The early stage of PEPD can be mainly manifested as non-epileptic tonic.It is easy to be misdiagnosed as epilepsy, so the patient′s characteristic skin changes should be noticed, and genetic examination is also helpful in the diagnosis of the disease.
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@#To explore the clinical characteristics and therapeutic effect of PCDH19 gene related epilepsy. Methods The data of 11 patients with PCDH19 gene-related epilepsy in Guangdong 999 brain hospital from September 2014 to January 2019 were retrospectively analyzed,including clinical features,examination,treatment and follow-up results. Results All the 11 patients were female. The onset age of seizure ranged from 6 to 24 months,and 9 patients(82%) onset within 1 year. Seizures in clusters were observed in all patients,fever sensitivity in 91%(10/11),and status epilepticus only one. The major seizure types were focal seizures and generalized tonic clonic seizures. Seven patients were development delay.Nine mutations were located in exon 1 and two in exon 3.Five missense mutations,four frameshift mutations and two nonsense mutations were found. Seven mutations were de novo.70%(7/10)of EEG indicated normal in the period of non cluster seizures.All EEG were abnormal during cluster episodes,but 13%(3/23)of among showed no epileptiform discharge,and the epileptiform discharge site was not constant in the same patient.All of the patients at least use two kinds of antiepileptic drugs. Five patients are seizure free for at least 10 months after the addition of levetiracetam,and one patient was seizure free for 37 months. The second effective drugs are valproic acid,topiramate,clonazepam and Phenobarbital. Valproic acid plus levetiracetam is most effective treatment group. Conclusion Early onset of seizures,fever sensitivity and cluster seizures are characteristic in PCDH19 gene-related epilepsy. EEG is often normal during cluster episodes. Multi-drug combination therapy is often required,and the addition of levetiracetam has a significant effect on PCDH19 generelated epilepsy.
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Objective:To investigate the clinical features of encephalocraniocutaneous lipomatosis (ECCL).Methods:The clinical characteristics, imaging manifestations and electroencephalogram changes of five patients with ECCL from Guangdong 999 Brain Hospital between December 2016 and February 2019 were collected and analyzed.Results:All five cases showed ocular, skin and central nervous system anomalies. Corneal anomalies were found in five cases, eyelid coloboma in three cases, calcification of the globe in two cases, and choristoma in one case. All five cases presented with naevus psiloliparis, three cases with small nodular skin tags on eyelids, and three cases with café-au-lait spots on the trunk. Dysplasia of the right cerebral hemisphere was observed in all five cases, four cases with enlargement of the right ventricle, three cases with arachnoid cysts, and one case with dysplasia of the corpus callosum. The onset of the seizures of five cases was found within one year old. Spasms were observed in five cases, partial seizure in three cases, and tonic seizure in one case. Five cases were drug-resistant epilepsy. Seizures decreased significantly after adrenocorticotropic hormone treatment in one case and seizures free after surgery in one case. One case had seizure free by corpus callosotomy, but had a relapse after four months. Three cases used ketogenic diet, including one case with epileptic seizure reduction, one case with development progress. All five cases had developmental delays. The exon gene sequencing of four cases was found normal. KRAS gene mutation was found in brain tissue of one patient.Conclusions:ECCL is a rare clinical disease that often involves the nervous system, skin and eyes. The seizures of the patients are often difficult to control and have development delays. Surgery may be necessary to control the seizures. ECCL is thought to be somatic mutations, which are hard to detect in the blood and can be found in affected tissues.
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@#Objective To explore the relationship between gene mutation types and clinical phenotypes in patients with tuberous sclerosis complex accompanied by epilepsy. Methods TSC gene was detected in patients with tuberous sclerosis accompanied by epilepsy diagnosed in Guangdong Sanjiu brain hospital from October 2013 to October 2019.The patients with gene positive were genotyped and the clinical data of the patients with gene positive were collected to explore the relationship between different gene mutation types and clinical phenotypes. Results 85 patients were TSC gene positive,of which 34 (40.0%) were TSC1 gene mutation in which 4 (11.8%) were splice mutation,10 (29.4%) were frameshift mutation,4 (11.8%) were nonsense mutation and 16 (47.0%) were missense mutation. 51 (60.0%) were TSC2 gene mutation,in which 3 were splice mutation (5.9%),19 were frameshift mutation (37.3%),1 was nonsense mutation (1.9%),25 were missense mutation (49.0%) as well as 3 were large fragment deletion (5.9%). The mutation rate of frameshift mutation and missense mutation was higher. The age of onset was divided into ≤ 1 year old,~3 years old,~6 years old,~18 years old and >18 years old. It was found that there were significant differences in TSC1 and TSC2 genes among different age of onset (P<0.05). At the same time,the incidence of renal disease and mental retardation was statistically significant in TSC1 and TSC2 genes (P<0.05 respectively). In addition,according to the type of gene mutation,the patients were divided into three groups:frameshift mutation group,missense mutation group and other mutations (including splice mutation,nonsense mutation and large fragment deletion) group. It was found that the incidence of heart disease was significantly different in different gene mutation types (P<0.05 respectively). Conclusion There were many different types of TSC1 and TSC2 gene mutation types and clinical phenotypes. The onset age of TSC2 mutation is younger and more prone to have kidney disease and mental retardation. Missense mutations are more likely to develop heart disease. The study of genotype-phenotype relationship can make a preliminary assessment of disease development and prognosis in TSC patients.
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Triclosan, a broad-spectrum antimicrobial agent, was reported to have been widely detected in various human biological samples such as urine, blood and human milk among foreign populations. In China, limited reports have been found on human exposure to triclosan, and the reported urinary triclosan concentrations were significantly lower than that of American populations. Besides, the potential influencing factors still remain unclear regarding human exposure to triclosan, but evidences suggest that those in middle age and with higher household income and higher social class tend to have higher urinary triclosan concentrations. Furthermore, triclosan exposure tend to differ by sex, geography, heredity, metabolism and life style.
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Humans , Middle Aged , China , Environmental Exposure , TriclosanABSTRACT
Objective To study the relationship between gene mutation and clinical phenotype in patients with tuberous sclerosis complex (TSC).Methods The clinical data of 76 patients with TSC diagnosed in Guangdong 999 Brain Hospital were collected between May 2007 and May 2014 and then TSC gene mutation analysis was performed.Genotype-phenotype analyses for all the patients were also carried out.Results Fifty of the 76 (66%) patients were male,and 26 (34%) were female,in which 19 (31%) patients presented with cyst-like cortical tuber,69 (92%) with skin lesions,16 (30%) with renal lesions,50 (69%) with mental retardation and 39 still suffered seizures after a year.In this study,22 (29%) cases showed TSC1 gene mutation,31 (59%) presented TSC2 gene mutation,and 15 (20%)cases had no mutation identified.The mutation ratio of TSC1 ∶ TSC2 was approximately 3 ∶ 5,while the mutation ratio of TSC1 ∶ TSC2 was 1 ∶ 1 for familial TSC patients,and 1 ∶ 2 for sporadic TSC patients.Comparing to those with TSC1 gene mutation and no mutation identified,patients with TSC2 gene mutation exhibited statistical meaning on the aspects of the onset age of seizure (Z =1.688,P =0.007),seizure onset before l-year-old (x2 =10.584,P =0.001),epilepsy duration (x2 =4.996,P =0.025),spasms onset (x2 =10.111,P =0.001),cyst-like cortical tuber (x2 =9.182,P =0.002),skin lesions (x2 =9.016,P =0.003),as well as renal lesions (x2 =6.079,P =0.014).No apparent relation was found between genotype and intelligence outcome.Conclusions The patients with TSC2 gene mutations presented severer symptoms in seizure onset than those with TSC1 gene mutation and no mutation identified.The patients with TSC2 gene mutation were characterized by early onset of seizure,especially before 1-year-old,others like spasms onset,cyst-like cortical tuber,skin lesions,as well as renal lesions being more vulnerable.Therefore,more active treatment should be given to the patients with TSC2 gene mutation.
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<p><b>OBJECTIVE</b>To explore the clinical and genetic characteristics of patients with dentatorubro-pallidoluysian atrophy (DRPLA).</p><p><b>METHODS</b>DNA analysis for DRPLA gene was performed in two patients. Clinical features and genetic testing of Chinese DRPLA patients reported in the literature were reviewed in terms of initial symptoms, CAG repeat and age of onset.</p><p><b>RESULTS</b>Both families were confirmed by genetic analysis. In family 1, the number of CAG repeat in the proband, his brother and his mother was determined respectively as 8/65, 8/53 and 8/18. In family 2, the number of CAG repeat was respectively 13/63, 13/18, 18/52 and 13/13 in the proband, his brother, his father and his mother. The size of the expanded CAG repeats has inversely correlated with the age at onset (P<0.05, r=- 0.555). The age at onset of epilepsy was 10 and that for the onset of ataxia is forty years in initial symptom.</p><p><b>CONCLUSION</b>The clinical characteristics of DRPLA include epilepsy, ataxia and cognitive impairment. The initial symptoms are epilepsy in adolescence and ataxia in adults. The size of expanded CAG repeats inversely correlates with the age at onset. The initial symptoms are different with different age of onset. It is difficult to diagnose DRPLA at an early stage.</p>
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Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , Atrophy , Genetics , Basal Ganglia Diseases , Diagnosis , Genetics , DNA Mutational Analysis , Dentate Gyrus , Pathology , Family Health , Globus Pallidus , Pathology , Nerve Tissue Proteins , Genetics , Pedigree , Trinucleotide Repeat Expansion , GeneticsABSTRACT
Objective To explore the common causes of epilepsy and the etiologic characteristics in different age groups of patients with epilepsy.Methods A retrospective survey was made in 5572 epilepsy patients in Epileptic Center of Guangdong 999 Brain Hospital from January 2003 to December 2009.According to the diagnostic criteria published in 2005 from ILAE,all the diagnoses of 5572 cases were made by epileptic specialists.Based on history,cranial MRI or CT and pathologic data,causes of epilepsy were classified into idiopathic,symptomatic and cryptogenic epilepsy.The cases of symptomatic epilepsy were further arranged into different categories in different age grades,such as head trauma,perinatal injuries,infection in central nervous system, cerebral vascular disease, brain tumor, disorders of cortical development,neurocutaneous syndrome and others.The cases with febrile seizures and family history were collected,and positive ratio of febrile seizures and family history were contrasted in different categories of cases by Kruskal-Wallis test ( nonparametric test ).Results In 5572 cases,66 were idiopathic,2834 symptomatic,2672 cryptogenic,and the ratio of these causes was 1%,51%,48% respectively.Among 2834 cases of symptomatic epilepsy,822 were head trauma,497 were perinatal injuries,360 were infection in central nervous system,249 were brain tumor,150 were cerebral vascular disease,135 were disorders of cortical development,62 were neurocutaneous syndrome and 559 were others. In brief,head trauma,perinatal injuries,infection in central nervous system,brain tumor and cerebral vascular disease were top 5 causes of symptomatic epilepsy. Hippocampal sclerosis was found in 744 cases in those of eryptogenic epilepsy.The importance of febrile seizures( idiopathic:15.2% ( 10/66 ),symptomatic:6.5% ( 185/2834 ),cryptogenic:9.4% ( 250/2672 ) ; x2 =181.393,P =0.000 ) and family history ( idiopathic:83.3% ( 55/66 ),symptomatic:1.1% (31/2834),cryptogenic:0.4% (12/2672) ; x2 =68.354,P =0.000) was statistically different in different causes of epilepsy.Febrile seizures was the most frequent in cases with hippocampal sclerosis than those with other causes,and family history was the most frequent in neurocutaneous syndrome in symptomatic cases.Perinatal injurics was thc first causc in cases of infancy and childhood,head trauma was the top one in those of juvenile and adulthood,and cerebral vascular disease was the main cause in senile cases. Conclusions In the whole epileptic cases of 5572, 1% was idiopathic,51% was symptomatic,and 48% cryptogenic. The main causes of them were head trauma,perinatal injuries,infection in central nervous system,brain tumor,and cerebral vascular disease.