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??Abstract??Objective To study the effectiveness of the antiepileptic lamotrigine ??LTG?? and the relationship between the plasma concentration and oral dosage?? co-medication and patients age. Methods Totally 111 epileptic patients were divided into 2 groups?? LTG monotherapy group ??n=58?? and LTG??VPA ??Valproate??VPA?? group ??n=53??. LTG??VPA group was divided into three subunits in terms of plasma concentration of VPA. LTG monotherapy group was divided into two subunits?? older ??7??18 y?? n=40?? and younger ??3????7 y?? n=18?? group. The dosage was then increased to target dose gradually. Blood specimens were collected more than one month after LTG target dose or when effective maintenance dosage was achieved. The serum concentrations of LTG and VPA were determined by high performance liquid chromatography. Results The effect of the LTG was 82.9%.VPA combination enhanced LTG blood concentration. The ratio of serum level and dose of LTG did not vary with the range of the serum concentration of VPA 0.28??0.62mol/L.In younger group the relativity between blood concentration of LTG and LTG maintaining dose didn’t exist. However?? there was a positive correlation in the older group. Conclusions When we prescribe LTG??we should consider epilepsy type?? co-medication and individual difference as a whole.Therefore TDM??therapeutic drug monitoring??TDM??is an essential tool to control seizure and avoid side effects.     

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??Abstract??Objective To study the clinical and neuro-electrophysiological features of transient epileptic seizures by using polygraphic channel VEEG—EMG monitoring. Methods The information of 51 epilepsy children with rapid falling??nodding or limb shaking in video electroencephalogram was collected in the Department of Pediatric Neurology?? Peking University First Hospital from June 2012 to March 2013.The clinical features??EEG and EMG patterns were analyzed retrospectively. Results Totally 745 seizures were found in 51 patients. The seizures included 391 epileptic spasms??52.5%????138 myoclonic seizures??18.5%????117 atonic seizures??15.7%????61 negative myoclonus??8.2%????27 tonic seizures??3.6%??and 11 myoclonic atonic seizures??1.5%??.Different clinical manifestations were with different clinical-EEG-EMG patterns.According to the duration of EMG changes??patients were divided into EMG-burst group and EMG-static group. Conclusions Epileptic seizures with rapid falling, nodding or limb shaking are most affected by epileptic spasms??myoclonic seizures??atonic seizures??negative myoclonus??tonic seizures and myoclonic atonic seizures.Their common feature is rapid and transient??which makes them difficult to be diagnosed only by illness history.But by performing VEEG-EMG??we can accurately identify the types of seizures??which will be helpful in the diagnosis and treatment.     

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??The true incidence of fulminant hepatic failure in the pediatric population is unknown?? though fulminant hepatic failure is a rare but devastating syndrome??such as hepatic encephalopathy??DIC??MODS?? that results in the death of most children affected. The mainstay of the treatment is liver transplantation??however?? organ shortage limits its use.The purpose of this review is to introduce the current situation of fulminant liver failure in children??focusing on assessing the application of artificial liver??which is considered to play a pivotal role in the treatment of fulminant liver failure.According to its classification??we mainly discussed the application of non-biological artificial liver?? including its indications??advantages and disadvantages??especially the MARS. At present?? the artificial liver treatment also faces many problems. None of the ELS techniques has yet been evaluated systematically in children??and survival benefits have not yet been demonstrated.     

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??Abstract?? Objective To analyze ALDH3A2 mutation in four Chinese patients with Sjögren-Larsson syndrome ??SLS??. Methods Four patients were clinically diagnosed with SLS. Respectively take 3 ml of peripheral blood. All 11 exons and exon-intron boundaries of ALDH3A2 gene were amplified by polymerase chain reaction ??PCR?? and directly sequenced for genomic DNA. Results 1. All four patients had congenital ichthyosis?? mental retardation??and spastic diplegia or tetraplegia. Patient 1 had a compound heterozygote??c.1157A??G inherited from her father?? IVS5-1del G inherited from her mother. Both her parents had normal phenotype. Patient 2 and Patient 3 were siblings?? they were both homozygotes??a A-to-G transition at nucleotide 1157 in exon 8. The heterozygosity was demonstrated in their mother. Both her parents had normal phenotype. Conclusion Two different mutations were examined in these 4 Chinese patients?? and the SLS cases were confirmed by ALDH3A2 mutation analysis.     

Pain Profiles and Psychosocial Distress Symptoms in Workers with Low Back Pain

Purpose:

The current study investigated the pain profiles of patients with subacute non-specific low back pain attending an outpatient return-to-work rehabilitation programme. Differences in symptoms of distress (depression and anxiety) and return to work between the pain-profile groups were assessed.

Methods:

Sixty-five volunteers who met the eligibility criteria and had complete follow-up data were included in the analysis. The mean age was 38.8 years (minimum 18, maximum 64); 38 (58.5%) were men. The median time since onset of low back pain was 30 days. Cluster analysis was used to categorize patients into groups according to pain severity scores (VAS).

Results:

Two distinct clusters—severe pain and moderate pain—emerged. There were significant differences in depressive and anxiety symptoms between the pain profiles. Further, return-to-work rates varied significantly between the two groups (31% in the severe pain cluster compared to 90% in the moderate pain cluster).

Conclusion:

Although both groups showed significant improvements in depression and anxiety symptoms over time, the severe pain cluster scored higher at discharge (higher scores indicating worse outcomes). These results highlight the importance of early identification of sub-groups at risk so that rehabilitation interventions can be focused with the goal of minimizing long-term disability.     

Profound and persistent decrease of circulating dendritic cells is associated with ICU-acquired infection in patients with septic shock

Purpose

Septic shock induces a decrease in dendritic cells (DCs) that may contribute to sepsis-induced immunosuppression. We analyzed the time course of circulating DCs in patients with septic shock and its relation to susceptibility to intensive care unit (ICU)-acquired infections.

Methods

We enrolled adult patients with septic shock (n?=?43), non-septic shock (n?=?29), and with sepsis without organ dysfunction (n?=?16). Healthy controls (n?=?16) served as reference. Blood samples were drawn on the day of shock (day 1), then after 3 and 7?days. Myeloid (mDC) and plasmacytoid (pDC) DCs were counted by flow cytometry. Cell surface HLA-DR expression was analyzed in both DC subsets.

Results

At day 1, median mDC and pDC counts were dramatically lower in septic shock patients as compared to healthy controls (respectively, 835?mDCs and 178?pDCs/ml vs. 19,342?mDCs and 6,169?pDCs/ml; P?P?Conclusion Septic shock is associated with profound and sustained depletion of circulating DCs. The persistence of low mDC counts is associated with the development of ICU-acquired infections, suggesting that DC depletion is a functional feature of sepsis-induced immunosuppression.     

EPCAM Germ Line Deletions as Causes of Lynch Syndrome in Spanish Patients

The standard genetic test for Lynch syndrome (LS) frequently reveals an absence of pathogenic mutations in DNA mismatch repair genes known to be associated with LS. It was recently shown that germ line deletions in the last exons of EPCAM are involved in the etiology of LS. The aim of this study was to evaluate the prevalence of EPCAM deletions in a Spanish population and the clinical implications of deletion. Probands from 501 families suspected of having LS were enrolled in the study. Twenty-five cases with MSH2 loss were identified: 10 had mutations of MSH2, five had mutations of MSH6, and 10 did not show MSH2/MSH6 mutations. These 25 cases were analyzed for EPCAM deletions using multiplex ligation-dependent probe amplification, and deletions were mapped using long-range PCR analysis. One subject with no MSH2/MSH6 mutations had a large deletion in the EPCAM locus that extended for 8.7 kb and included exons 8 and 9. The tumor exhibited MSH2 promoter hypermethylation. EPCAM deletion analysis followed by MSH2 methylation testing of the tumor is a fast low-cost procedure that can be used to identify mutations that cause LS. We propose that this procedure be incorporated into clinical genetic analysis strategies and present a decision-support flow diagram for the diagnosis of LS.Lynch syndrome (LS) is an autosomal dominant inherited cancer syndrome characterized by early-onset cancers of the colorectum and endometrium and tumors of the stomach, pancreas, small intestine, ovary, bladder, and bile duct.¹ In the Spanish population, about 2.5% of colorectal cancers are associated with LS.² The carcinogenetic etiology of this syndrome involves a DNA mismatch repair (MMR) inactivation caused by a germ line mutation of an MMR gene (MLH1, MSH2, MSH6, or PMS2) followed by somatic inactivation of the second allele.¹ As a consequence of MMR inactivation, these tumors exhibit microsatellite instability (MSI) and loss of expression of the mutated MMR gene.¹ It was recently shown that germ line deletions involving the last exon of the non-MMR gene, EPCAM (OMIM#185535), may silence its neighboring gene, MSH2 (OMIM#609309), which is located 17 kb downstream of EPCAM, via promoter hypermethylation. This epigenetic inactivation seems to be effective only in tissues in which EPCAM is expressed.^3,4 The EPCAM gene codes for the epithelial cell adhesion molecule also known as CD326, which is expressed in all normal epithelial cells and in carcinoma tumors.⁵ Thus, deletions of the last exon of EPCAM constitute a distinct class mutation associated with LS.Currently, the standard genetic test for LS (point mutation and large-rearrangement analysis of MLH1, MSH2, MSH6, and PMS2) frequently fails to detect a pathogenic mutation. For this reason, we evaluated the association between EPCAM deletions and LS in a Spanish population and its clinical implications.     

Efficacit�� et s��curit�� de la sleeve gastrectomie chez les super-superob��ses

Aim

To assess the efficacy of laparoscopic sleeve gastrectomy for super-superobesity in 30 patients (BMI > 60 kg/m²).

Methods

This prospective study has analyzed the duration of surgery, length of hospital stay, post-operative complications, percentage of excess weight loss and need for a second surgery (re-sleeve gastrectomy or gastric bypass) in case of insufficient weight loss. Twenty-three women and 7 men were included, with a mean age of 35 years (18?C59), mean pre-operative BMI of 66 kg/m² (60?C85) and mean weight of 168 kg (140?C258). The study included one patient with complete situs inversus and 4 (14%) patients with a previous restrictive bariatric surgery.

Results

The mean duration of surgery was 120 minutes (80?C220). The mean hospital stay was 7.5 days (4?C28). There was no post-operative mortality. Laparotomy was not needed. There were 4 complications: sub-phrenic haematoma (2), gastric fistula (1) and pulmonary embolism (1). Out of the 23 patients who were followed up for 18 months, 17 (77%) patients achieved sufficient weight loss, whereas 6 (23%) patients showed insufficient weight loss, leading to re-sleeve gastrectomy (in 3 cases) or gastric bypass (in 2 cases), and one patient refused another surgery. Three years after the initial sleeve gastrectomy, the mean weight loss was 56 kg (28?C144), the mean percentage of excess weight loss was 51% (28?C82) and the mean loss of BMI was 20 kg/m² (10?C39).

Conclusion

These results show that laparoscopic sleeve gastrectomy can be performed safely, with few post-operative complications and is efficient in treating super-superobese patients. It can be either a stand-alone procedure if the results are good or a first-stage procedure before a re-sleeve or a gastric bypass if long-term results are insufficient.     

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??Objective??To investigate the efficacy and safety of propofol used as anesthesia and deep sedation during flexible bronchoscopy in children. Methods??The clinical data of 206 children with atelectasis who underwent flexible bronchoscopic alveolar lavage in the Endoscopy Room of the Respiratory Department of Hebei Children’s Hospital from January 2016 to January 2017 were retrospectively analyzed. Children for ASA??/?? level were divided into two groups according to the sedation method :there were 106 cases in the propofol group??2 mg/kg?? and 100 cases in the midazolam group??0.1 mg/kg??. To compare the onset time of anesthetict??heart rate??HR????respiratory rate??RR????mean arterial pressure??MAP????percutaneous oxygen saturation??SPO2?? before and after anesthesia induction??T0??T1????during endoscopy placement??T2??and after awakening??T3?? at 4 time points??operative duration??the waked duration of postoperation??the rate of adverse reactions??hiccups??respiratory depression??in the operation and Ramsay score between two groups. All data were analyzed by SPSS 20.0 statistical software. Results????1??There were statistically significant differences at the onset time of anestheticts??operative duration and the rate of side-effects between the two groups??P??0.05??. There was no statistical differences in awake time??P??0.05??.??2??There was no significant difference in MAP or SPO2 at time points of T0??T1??T2??T3??P??0.05????whereas the difference in HR and RR at time points of T1??T2??T3 between the two groups was statistically significant??P??0.05??. ??3??The sedative effect of propofol group was significantly better than that of midazolam group in Ramsay sedative scoring. Conclusion??Propofol used for anesthesia and deep sedation works fast??safely and effectively in flexible bronchoscopy for children??the time to gain consciousness is short??the operation time is short and there is fewer side effects??which is worth promoting.