Child ; Critical Illness ; Humans ; Status Epilepticus

Objective To study the etiology,clinical characteristics,electroencenphalography(EEG),mental degree of Lennox-Gastaut syndrome(LGS). Method Retrospectively analyzed etiology,sex,age,seizure types,EEG,mental degree of 54 children diagnosed as LGS. Results The number of male was 36,female was 18,seizure onset from 1 month to 8 years,diagnosing age from 3 months to 11years. The EEG reveals 1.5-2.5 Hz spike-wave discharges and a slow baseline activity. Conclusions LGS is one of the most difficult epilepsys to treat and need frequently more than 2 antiepilepsy drugs. It is characterized by variable etiology,multiple types of intractable seizures, and has enormous detrimental effects on patient′s developmental health.

It has been well-known that intravenously infused hematopoietic stem and progenitor cells can home to the bone marrow and reconstitute hematopoiesis. However, little is understood about the homing efficiency or percentage of infused stem and progenitor cells. In order to examine distribution pattern of infused hematopoietic cells in the organs and tissues, a direct assay system to trace transplanted cells in vivo by employing PKH-26, a red fluorescent membrane dye, to label hematopoietic cells in inbred strain of mice transplanted cells (stem cell antigen-1 positive subpopulation cell, Sca-1(+) cells) was introduced. The numbers of labeled cells was measured by means of flow cytometry and fluorescence microscopy. The early fate of infused Sca-1(+) donor bone marrow cells after intravenous administration in a allogeneic mouse model was examined. The presence of infused donor cells with the fluorescent dye PKH-26 was evaluated within 60 hours in hematopoietic organ (bone marrow and spleen) and non-hematopoietic organ (lungs and liver) of recipients. The data showed that (1) Following intravenous infusion, Sca-1(+) donor bone marrow cells were detained in lungs shortly. (2) Sca-1(+) donor bone marrow cells localized to both hematopoietic organ (bone marrow and spleen) and non-hematopoietic organ (lungs and liver) for periods of up to 60 hours following infusion, however, the number of donor hematopoietic cells localized to bone marrow was more than that localized to non-hematopoietic organ (P < 0.05). These results indicated that there were also donor early hematopoietic cells in non-hematopoietic organ of recipients at the homing phase in allo-BMT mice.

In order to explore the improvement of seeding efficiencies of infused donor hematopoietic cells to bone marrow in bone marrow transplantation, two recipient groups of syngeneic rat model which received transplanted cells labeled with PKH-26, a red fluorescent membrane dye, by aortic or intravenous administration (2 x 10(7) nucleate cells per recipient rat) respectively, were assayed; at selected times following BMT, partial recipient rat were euthanized and then measured the numbers of PKH-26 labeled cells in recipient rat marrow samples by means of flow cytometry. The results showed that the homing indices of donor hematopoietic cells in aortic group and intravenous group were (14.52 +/- 1.07)% and (10.49 +/- 0.72)% at 30 hours after BMT, respectively (P < 0.05). The results indicated that the number of donor hematopoietic cells localized to recipient bone marrow infused by aortic route is more than that infused by intravenous route.

-2,and T)was detected on exon 11 in the mutational analysis of GABRG2.Our results indicate that genomic variations of GABRG2 are not likely to be substantially involved in the etiology of GEFS+in this family. Conclusion Our study fails to provide evidence supporting a causal relation between the SCN1A,SCN1B, GABRG2 mutation and the etiologic genes in this family,which indicates that GEFS+has with phenotypic and genotypic heterogeneity.

Objective To explore the related diseases,main causes and clinical features of children with basal ganglia calcification(BGC).Methods Thirty cases with BGC detected by CT were studied retorspectively,and its clinical symptoms and image were summarized.Results Many factors and diseases were related to BGC,such as hypothyroidism,intrauterine infection,intrauterine hypoxia,epilepsy,posttraumatic cerebral lacunar infarction.Main clinical manifestations of BGC in children were twich,mental retardation,disorders of limb movements etc.The CT scan showed localized punctuate calcification in basal ganglia.Conclusions The main causes of BGC in children are hypothyroidism,intrauterine infection and intrauterine hypoxia,and the clinical manifestations are diverse.For children with CT-detected BGC should diagnose its causes;and for unknown causes cases should strengthen follow-up.

OBJECTIVETo study the clinical characteristics of myasthenia gravis (MG) in children and the changes in AchR-Ab-seronegative (SNMG) MG and AchR-Ab-seropositive MG (SPMG) patients.

METHODSThe study was done on 77 MG patients who were diagnosed at The Pediatric Hospital, Fudan University from 1992 to 2002. This clinical trial was a non-randomized, controlled open study.

RESULTS(1) The age of onset ranged from 3 months to 16 years, and the most common ages of onset were before 3 years; 32 cases were males and 45 females. The extraocular muscles were more frequently involved. According to the modified Osserman's criteria, 54 patients (70%) were classified as type I, 21 cases (27%) as type II and 2 cases (3%) as type III. (2) Eighteen of 55 cases (35%) were positive for anti-acetylcholine receptor antibodies (AchRab) and 16 of 55 cases (31%) were positive for acetylcholine premembrane receptor antibody (PremRab) on the initial examination. The clinical state of the patient during the examination did not show any clear correlation with the level of these antibodies. There was no significant difference between clinical type and AchRab positive rate among the three groups. Two of 18 patients (11%) were positive for thymoma associated antibody (Tintinab). The serological test on follow-up showed that 6 of 10 SNMG cases (60%) turned to be SPMG. In 85% of the cases the results of CD cells examination was abnormal, most of them showed reduced levels of CD4(+) or CD3(+) and CD8(+). (3) The thymus proliferation was found in 22 patients (42%) by CT and changes of thymoma were found in 2 cases (4%) and were confirmed by operation. (4) In 50% of the cases the electromyography (EMG) was abnormal. (5) After anticholinesterase drugs and steroids treatment the prognosis of patients with MG was usually good.

CONCLUSIONSMG in our children's hospital has increased, the age of onset became younger, and type II MG cases increased. Seronegative patients could turn positive, so monitoring the patient's serology is helpful for finding more SPMG cases. Steroids have been proven effective and safe in treatment of MG in children. Patients in methylprednisolone group experienced less side effects of steroid therapy than group treated with oral prednisone.

Adolescent ; Antibodies ; blood ; Child ; Child, Preschool ; Cholinesterase Inhibitors ; therapeutic use ; Female ; Follow-Up Studies ; Hospitals, University ; Humans ; Infant ; Male ; Myasthenia Gravis ; blood ; classification ; drug therapy ; Prognosis ; Receptors, Cholinergic ; immunology ; Steroids ; therapeutic use ; Treatment Outcome

OBJECTIVETo study the clinical and genetic characteristics of generalized epilepsy with febrile seizures plus (GEFS).

METHODSData of two probands of the disease were collected through outpatient clinic. DNA was extracted from peripheral blood leukocytes using RelaxGene Blood DNA System. Twenty-six exons of SCN1A were amplified by polymerase chain reaction (PCR), the PCR products were screened by denaturing high performance liquid chromatography (DHPLC), then the abnormal fragments were sequenced by Sanger method in order to find the mutations of SCNIA gene.

RESULTS(1) There were 28 affected individuals in the two families of GEFS+ (14 males and 14 females). Febrile seizures (FS) were present in 7 cases, febrile seizures plus (FS+) in 6 cases, FS+ and absence seizures in 1 case, FS+ and myoclonic seizures in 1 case, uncertain type in 13 cases. No severe phenotype was seen. Bilineal inheritance occured in one GEFS+ family. (2) A samesense mutation (c. 1212A > G) of SCN1A gene was found in the proband and an unaffected individual of pedigree B of GEFS.

CONCLUSIONS(1) GEFS+ is a syndrome with the characteristics of heterogeneous clinical phenotypes; bilineal inheritance suggests the possibility of complex inheritance with additive gene effects. (2) Our study failed to provide evidence supporting a causal relation between the SCN1A mutation and the etiologic gene in the GEFS+ family B, which indicates that GEFS+ has the phenotypic and genotypic heterogeneity.

Adolescent ; Child ; Child, Preschool ; DNA Mutational Analysis ; Epilepsy, Generalized ; complications ; genetics ; Female ; Genetic Testing ; Genotype ; Humans ; Infant ; Male ; NAV1.1 Voltage-Gated Sodium Channel ; Nerve Tissue Proteins ; genetics ; Pedigree ; Phenotype ; Seizures, Febrile ; complications ; genetics ; Sodium Channels ; genetics

OBJECTIVETo investigate the changes of clinical and EEG features in children with febrile seizures which are prone to epilepsy four years after antiepileptic drugs valproate and/or topiramate treatment.

METHODSOne hundred and thirty-two children with febrile seizures between 2004 and 2005 and who had the indications of antiepileptic drugs treatment were administered with oral valproate and/or topiramate treatment. The children were followed up for four years. Routine blood tests, liver and renal function tests were performed twice a year. Sleeping activation EEG examination was performed once a year.

RESULTSDuring the follow-up of 1 to 10 years, 108 (98.2%) out of 110 children with valproate monotherapy were seizure-free. In the 110 cases, 95 were in the drug withdrawl and 10 were in the drug reduction. All of 13 cases receiving topiramate monotherapy were seizure-free and were in the drug withdrawl. None of the patients showed abnormalities in routine blood tests, liver and renal functions tests. Sleeping activation EEG showed normal in 102 cases, focal discharges in 8 cases, bilateral synchronized spikes in 4 cases and 3Hz spikes and polyspikes in 2 cases.

CONCLUSIONSEarly use of antiepileptic drugs valproate or topiramate is effective and safe in children with febrile seizures which are prone to epilepsy. The majority of the children have a normal sleeping activation EEG after antiepileptic drug therapy.

Anticonvulsants ; therapeutic use ; Child ; Child, Preschool ; Electroencephalography ; Female ; Humans ; Infant ; Male ; Seizures, Febrile ; drug therapy ; physiopathology ; Sleep ; physiology

AIM To investigate the correlation between surface features and hygroscopicities of Achyranthis bidentatae Radix extract powders added with different excipients.METHODS Achyranthis bidentatae Radix aqueous extract was added with crospovidone CL-SF,maltodextrin DE11-14,β-cyclodextrin,Arabic gum,dextrin,mannitol,soluble starch and lactose,respectively,after which extract powders were prepared,and hygroscopicities and morphological changes were determined.Then the surface features of various extract powders were compared by double exponential model.RESULTS Compared with other excipients,soluble starch and β-cyclodextrin could reduce the saturated moisture content of the extract powders more obviously,and crospovidone CL-SF exhibited the strongest inhibitory effect on powder synechia after moisture absorption.No direct relationship between hygroscopicities and specific surface area or pore volume was observed,but specific surface area,pore volume and average particle size demonstrated positive correlations with model parameter A1.CONCLUSION Addition of proper excipients can improve the surface features and hygroscopicities of Achyranthis bidentatae Radix extract powders.