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.

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.

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

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

?? [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.

BACKGROUNDIn patients with chronic total occlusion (CTO) and multivessel coronary artery disease, the comparison of surgical and the percutaneous revascularization strategies has rarely been conducted. The aim of this study was to compare long term clinical outcomes of drug eluting stent (DES) implantation with coronary artery bypass surgery (CABG) in the patients with CTO and multivessel disease.

METHODSFrom a prospective registry of 6000 patients in our institution, we included patients with CTO and multivessel coronary artery disease who underwent either CABG (n = 679) or DES (n = 267) treatment. Their propensity risk score was used for adjusting baseline differences.

RESULTSAt a median follow-up of three years, propensity score adjusted Cox regression analysis showed that the rate of major adverse cardiac cerebrovascular events (MACCE) was lower in CABG group (12.7% vs. 24.3%, hazard ratio (HR) 1.969, 95%CI 1.219 - 3.179, P = 0.006) mainly due to lower rate of target vessel revascularization in CABG group than in DES group (3.1% vs. 17.2%, HR 16.14, 95%CI 5.739 - 45.391, P < 0.001). The incidence of cardiac death or myocardial infarction (composite end point) was not significantly different between these two groups. On multivariate analysis, the significant predictors of MACCE were only the type of revascularization. Age, left ventricular ejection fraction (LVEF), and complete revascularization were identified as significant predictors of composite end points.

CONCLUSIONSOur study shows that in patients with CTO and multivessel coronary disease, DES can offer comparable long term outcomes in cardiac death and myocardial infraction free survival in comparison with CABG. However, there is an increased rate of MACCE which results from more repeat revascularizations. Obtaining a complete revascularization is crucial for decreasing adverse cardiac events.

Angioplasty, Balloon, Coronary ; methods ; Chronic Disease ; Coronary Angiography ; Coronary Artery Bypass ; methods ; Coronary Artery Disease ; surgery ; therapy ; Coronary Occlusion ; surgery ; therapy ; Drug-Eluting Stents ; Humans ; Prospective Studies

OBJECTIVEX-linked adrenoleukodystrophy (X-ALD) is the most common inherited disorder of peroxisomal metabolism which is characterized by demyelination of central nervous system, impaired adrenal cortex and abnormal accumulation of very long chain fatty acids in body fluid and tissues. In this study, the clinical features and the genotype-phenotype relationship were investigated so as to help early diagnosis.

METHODSClinical data of 89 Chinese patients with X-ALD were analyzed and mutation spectrums in 53 of the patients were investigated by polymerase chain reaction and DNA sequencing.

RESULTSOf the 89 cases, 60 (67.4%) had childhood cerebral ALD (CCALD, mean age of onset was 6.5 years, range 2 - 10 years), 18 (20.2%) had adolescent cerebral ALD (ACALD, mean age of onset 12.1 years, range 11 - 19 years), 7 (7.9%) had adrenomyeloneuropathy (AMN, mean age of onset 23 years, range 6 - 39.5 years), and two cases were asymptomatic and another 2 had simple Addison's disease only. CCALD was the most common and severe phenotype, visual impairment was the most common initial symptom in CCALD and ACALD patients. Twenty four cases (63%) in whom hydrocortisone and ACTH were measured showed adrenal insufficiency. Forty five different mutations were identified in 53 patients. Missense mutations were the most common. No hotspot mutation was found in these patients and 1415delAG, the most frequent mutation found worldwide seemed not to be the real "hotspot" in these Chinese patients. The same phenotype may be due to diverse genomic mutations. A single mutation may result in different phenotypes even within a family.

CONCLUSIONThe phenotype distribution, initial symptom and gene mutation spectrum of Chinese patients may not be completely consistent with those in other countries. The clinical phenotype of the disease had no definite relationship with the nature of gene mutations.

Adolescent ; Adrenoleukodystrophy ; genetics ; Adult ; Age of Onset ; Asian Continental Ancestry Group ; genetics ; Child ; Child, Preschool ; DNA Mutational Analysis ; Female ; Genotype ; Humans ; Male ; Mutation, Missense ; Phenotype ; Young Adult

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