Objective To assess the efficacy and safety of ketogenic diet(KD) on refractory epilepsy in children.Methods KD treatment was designed to observe the effects for 12 weeks.Totally 22 children with 16 boys and 6 girls were enrolled in the study.The epileptic syndromes included infantile spasms(13 cases),Lennox-Gastaut syndrome(4 cases),Dravet syndrome(2 cases),and the unclassified(3 cases).The KD was prepared according to the modified Johns Hopkins regimen.Urinary ketones were measured every day to ensure that ketosis state and parents′ diaries were kept to find out when it started to work and the change of seizure frequency.Effects of KD was evaluated by Engel standard.Blood chemistry was done at baseline,4 weeks and 12 weeks to analyze the effects of KD on metabolism.Side effects were monitored and treated.Results All cases completed the KD regimen for at least 2 weeks,19 cases for at least 4 weeks,and 10 cases for at least 12 weeks.Sixteen out of 22 children experienced the seizure reduction within 3 weeks(1-15 d),especially in the first week,and seizure free appeared within 5 weeks(1-32 d) in 8 cases.Overall,the diet achieved the seizure-free in 36.4%(8/22 cases) and an over 90% of seizure frequency reduction in 22.7%(5/22 cases).The efficacy of KD seemed not correlated with the sex,age,etiopathogenisis,and syndromes and so on.Blood chemistry suggested a normal range of glucose level at 4 weeks,though higher than that at the baseline.The blood triglyceride and total cholesterol level at 12 weeks increased strikingly,even beyond the normal range compared with the baseline.The side effects mainly including transient gastrointestinal symptoms and metabolic disturbances were mostly tolerable.Conclusions KD is probably a feasible therapy on refractory epilepsy in children,with quick and high efficacy and few side effects.

The main treatment strategies for chronic pancreatitis in young patients include therapeutic endoscopic retrograde cholangio-pancreatography (ERCP) intervention and surgical intervention. Therapeutic ERCP intervention is performed much more extensively for its minimally invasive nature, but a part of patients are referred to surgery at last. Historical and follow-up data of 21 young patients with chronic pancreatitis undergoing duodenum-preserving total pancreatic head resection were analyzed to evaluate the outcomes of therapeutic ERCP intervention and surgical intervention in this study. The surgical complications of repeated therapeutic ERCP intervention and surgical intervention were 38% and 19% respectively. During the first therapeutic ERCP intervention to surgical intervention, 2 patients developed diabetes, 5 patients developed steatorrhea, and 5 patients developed pancreatic type B pain. During the follow-up of surgical intervention, 1 new case of diabetes occurred, 1 case of steatorrhea recovered, and 4 cases of pancreatic type B pain were completely relieved. In a part of young patients with chronic pancreatitis, surgical intervention was more effective than therapeutic ERCP intervention on delaying the progression of the disease and relieving the symptoms.

OBJECTIVETo analyze the indication and choice of operation technique for duodenum-preserving resection of pancreatic head.

METHODSThe Clinical material of the 22 patients who received duodenum-preserving resection of pancreatic head (DPPHR) from January 2001 to January 2006 was analyzed. Of the 22 cases, 8 cases presented with mucinous cystadenoma, 2 cases with mucinous cystadenocarcinoma, 4 cases with solid-pseudopapillary tumors, 2 cases with pancreatic endocrine tumors, 4 cases with chronic pancreatitis, 1 case with lymph epidermis cyst, 1 case with serous cystadenoma. The indication, choice of operation technique of DPPHR and the prevention and management of the post-operative complications were investigated.

RESULTSNo patient died of the operation. Three cases (13.6%) developed pancreatic fistula after the operation, 1 case (4.5%) developed biliary fistula, 1 case (4.5%) developed abdominal infection and 2 cases of duodenal fistula occurred (9.1%).

CONCLUSIONSDPPHR retains the continuity of stomach, duodenum and biliary ducts. The operation is safe and it reduces wounds and excision scope. This procedure can be used in benign and low malignant lesions in the head and neck of the pancreas.

Adult ; Aged ; Duodenum ; surgery ; Female ; Humans ; Male ; Middle Aged ; Pancreatectomy ; adverse effects ; methods ; Pancreatic Neoplasms ; surgery ; Pancreatitis ; surgery ; Postoperative Complications ; prevention & control ; Retrospective Studies ; Treatment Outcome

OBJECTIVETo explore the expression and clinical significance of MUC4 mRNA in peripheral blood mononuclear cells of pancreatic cancer patients.

METHODSThe expression of MUC4 mRNA in peripheral blood mononuclear cells of pancreatic cancer patients were detected with reverse transcription realtime PCR.

RESULTSExpression of MUC4 mRNA was not detected in the peripheral blood mononuclear cells of chronic pancreatitis patients and normal healthy people, but was observed in those of pancreatic cancer patients. The positive expression rate of MUC4 mRNA in pancreatic cancer patients was 60%, which was significantly higher than those of chronic pancreatitis patients and normal healthy people (P < 0.01). The positive expression rate of MUC4 mRNA increased with the development of clinical stage, and the positive expression rate in stage of II - IV (TNM system) was 76.92%, which was significantly higher than that of I - II stage (P < 0.01).

CONCLUSIONSExpression of MUC4 mRNA is highly correlated with the clinical stage in pancreatic cancer patients. Detecting the expression of MUC4 mRNA in peripheral blood mononuclear cells of pancreatic cancer patients may be helpful for the early diagnosis and differential diagnosis.

Adenocarcinoma ; metabolism ; pathology ; Adult ; Aged ; Biomarkers, Tumor ; biosynthesis ; genetics ; Female ; Humans ; Male ; Middle Aged ; Monocytes ; metabolism ; Mucins ; biosynthesis ; genetics ; Neoplasm Staging ; Pancreatic Neoplasms ; metabolism ; pathology ; RNA, Messenger ; genetics ; Reverse Transcriptase Polymerase Chain Reaction

OBJECTIVEClinical manifestations of opsoclonus-myoclonus syndrome (OMS) in children were summarized and analyzed and the clinical features and therapeutic approaches to OMS were investigated in order to improve its diagnosis and management.

METHODSClinical information on features and management of 6 cases with OMS inpatients being followed up from 2006 to 2007 were collected and analyzed.

RESULTSAmong the 6 cases, one was male and the other five were female. The age at the onset ranged from 12 to 26 months (average 21.0 months). Four of them had history of prior infection. The symptoms were opsoclonus, myoclonus, ataxia, sleep disturbances and behavioural problems in the 6 cases. Urinary DL-3-methoxy-4-hydroxy-acid amygdalin (VMA) was positive in 1 case. Abdominal B-mode ultrasound showed a mild hepatomegaly in 4 cases. The EEG showed abnormal findings such as slow background activity in 3 cases. Epileptiform discharges were found in none of the patients. MRI showed a high signal in medial longitudinal fasciculus and tectospinal tract on T2-weighted image in 1 case. Computerized tomography found L3-4 arachnoid cysts in 1 case and was normal in the others. Adrenocorticotropic hormone (ACTH) was given to all these patients and was effective in all during acute stage. In 2 cases the disease relapsed during follow-up stage.

CONCLUSIONOMS is a rare neurological condition with opsoclonus, myoclonus, ataxia, sleep disturbances and behavioral problems, which might relapse easily and is associated with adverse neurological outcome. ACTH therapy is effective in management of OMS.

Adrenocorticotropic Hormone ; therapeutic use ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Opsoclonus-Myoclonus Syndrome ; diagnosis ; therapy ; Prognosis ; Recurrence ; Treatment Outcome

A(p.G888S)were detected in POLG1 gene.Sequence analysis of parental blood DNA revealed that her father carried L83P and her mother carried G888S.Conclusions The characteristics of clinical manifestation,electrophysiology,pathology and POLG1 gene mutation of the patient were highly consistent with Alpers syndrome.The prominent white matter change and increased immunological factors in CSF were first reported in Alpers syndrome.Alpers syndrome should be considered for those patients whose liver function were severely impaired after exposure to valproic acid.

?? [Abstract]? Objective? To deeply explore the care needs in parents of children with congenital pseudarthrosis of the tibia (CPT) during Ilizarov fixation. Methods? Totally 10 parents of CPT children during Ilizarov fixation hospitalized in the Department of Orthopedics, Hu'nan Children's Hospital between March and December 2017 were selected using purposive sampling and received semi-structural interview. Colaizzi phenomenological methods were used to analyze the data. Results? Totally 4 themes were refined, including informational support needs (needle way care, functional exercise and feeding), psychological support needs, economic support needs, and children's educational support needs. Conclusions? The parents of CPT children during Ilizarov fixation have many care needs. Nursing workers should pay attention to their needs and take targeted measures to accelerate the postoperative recovery of children.

OBJECTIVETo make prenatal dignosis of X-linked adrenoleukodystrophy (ALD) for the prevention of the disease.

METHODSEighteen amniocenteses were performed on 17 suspected carriers of X-ALD during 18-30 gestation weeks. The very long chain fatty acids (VLCFAs) levels of cultured amniocytes were tested by gas chromatography-mass spectrometry (GC/MS). The plasma VLCFAs levels were measured in 8 of the 18 prenatal diagnosed children when they were born or after abortion. ABCD1 gene mutation analysis was carried out in 8 cases by PCR and sequencing. ALDP of amniocytes was tested by Western blotting in 2 cases from a family, one female, another male, and the VLCFAs of cultured amniocytes were increased in both of them.

RESULTSAmong the 18 fetuses, 10 were males and 8 were females. The VLCFAs levels of the cultured amniocytes were increased in 3 males and 4 females. The postnatal plasma VLCFAs were normal in 5 cases with normal VLCFAs levels of amniocytes, and increased in 3 cases with high VLCFAs levels of amniocytes. ABCD1 gene mutations were found in 4 cases with high VLCFAs levels of amniocytes, no mutation was found in other 4 cases with normal VLCFAs levels of amniocytes. ALDP of amniocytes could be detected in the female with high VLCFAs levels of amniocytes, and it could not be detected in the male with high VLCFAs levels of amniocytes. Three male fetuses with high VLCFAs levels of amniocytes were aborted. The others who were born were normal clinically so far.

CONCLUSIONThe prenatal diagnosis is very important for the prevention of ALD. Amniocyte VLCFAs level analysis combined with ABCD1 gene mutation analysis and ALDP test could make a proper prenatal diagnosis.

ATP Binding Cassette Transporter, Sub-Family D, Member 1 ; ATP-Binding Cassette Transporters ; genetics ; Adrenoleukodystrophy ; diagnosis ; genetics ; metabolism ; Adult ; DNA Mutational Analysis ; Fatty Acids ; metabolism ; Female ; Gas Chromatography-Mass Spectrometry ; Humans ; Infant, Newborn ; Male ; Pregnancy ; Prenatal Diagnosis ; methods

OBJECTIVEChildren with refractory epilepsy who suffered from severe liver function impairment during valproic acid (VPA) treatment at routine dosage were studied. The clinical manifestations and therapeutic approaches were investigated in order to improve its diagnosis and management.

METHODClinical information as well as features and management of 4 inpatients who were suffered from intractable epilepsy with severe liver function impairment induced by VPA since 2006 were collected and analyzed, including age of onset of epilepsy, VPA using age and the time when liver injury occurred, clinical manifestations, auxiliary examinations and management.

RESULTAmong the 4 cases, three were male and one was female. The admitted age ranged from 1 - 9 years and 1 month. The course of disease was 25 d - 6 months. They manifested as refractory epilepsy of epilepsia partialis continua which was difficult to control. After using VPA for 62 d (50 - 76 d), all developed severe impairment of liver synthetic function which was not related to the concentration of VPA. One was diagnosed with Alpers syndrome, two were suspicious of Alpers syndrome, and the other was diagnosed gliocytoma after brain biopsy. VPA was stopped immediately and symptomatic therapies were used. Other than that, intravenous injection of L-carnitine in 3 cases recovered the liver function.

CONCLUSIONVPA-associated severe hepatotoxicity can manifest first as impaired liver synthetic function. Besides alanin transaminase and aspartate transaminase, the liver synthetic function test is more important than monitoring of liver enzymatic functions in monitoring for the hepatotoxicity. Intravenous injection of L-carnitine in early stage showed good treatment effect.

Anticonvulsants ; adverse effects ; Biomarkers ; blood ; Carnitine ; administration & dosage ; therapeutic use ; Chemical and Drug Induced Liver Injury ; drug therapy ; etiology ; Child ; Child, Preschool ; DNA Mutational Analysis ; Diffuse Cerebral Sclerosis of Schilder ; chemically induced ; drug therapy ; genetics ; Epilepsy ; drug therapy ; Female ; Humans ; Infant ; Liver ; drug effects ; pathology ; Liver Function Tests ; Male ; Retrospective Studies ; Valproic Acid ; adverse effects

OBJECTIVEThe congenital muscular dystrophies (CMD) are a clinically and genetically heterogeneous group of neuromuscular disorders with progressive muscle wasting and weakness that begin during neonatal or early infantile period. To study the clinical diagnosis, immunohistochemical feature and follow-up information of CMD, data of 8 cases with CMD were analyzed.

METHODSImmunohistochemical features of biopsied muscle specimens were summarized and analyzed by using anti-laminin alpha2 (merosin), anti alpha-dystroglycan (alpha-DG) and anti beta-dystroglycan (beta-DG) antibodies.

RESULTSThese patients mostly presented at birth or during the first six months of life with muscle weakness, hypotonia, contractures, and feeding difficulty or respiratory dysfunction. Hematoxylin-eosin staining of skeletal muscle specimens from these patients showed typical characteristics of CMD. Differences in fiber size, with predominantly small and round fibers, and dense connective tissue infiltration were seen. Four of the 8 patients were merosin-stain negative, which might be due to primary merosin deficiency. T2-weighted magnetic resonance imaging of the brain shows abnormalities of the white matter. Four cases were merosin-stain positive, and two of them also had hypoglycosylation of alpha-dystroglycan. Two patients had mental retardation. One of them had optic nerve atrophy and abnormal brain structure.

CONCLUSIONSTwo types of CMD were present in our group. Merosin-deficient congenital muscular dystrophy (congenital muscular dystrophy 1A, MDC1A) was more common, accompanied by abnormalities of the white matter. "Alpha-dystroglycanopathy" could be seen in merosin-positive cases.

Female ; Humans ; Infant ; Laminin ; deficiency ; Male ; Muscular Dystrophies ; congenital ; diagnosis ; metabolism