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Journal of Neurology - Despite previous functional MRI studies on alterations within the cerebello-thalamo-cortical circuit in patients with essential tremor (ET), the specific role of...  相似文献   
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We report a 32-year-old who lady when presented with anemia and was detected to have Peutz-Jegher syndrome. She had malignancies of the colon and ovary over a 2-year follow up and was successfully managed. On screening the family two more members were confirmed to have Peutz-Jeghers syndrome and have been put on surveillance.  相似文献   
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Objectives

To determine the adjusted incremental total costs (direct and indirect) for patients (aged 3–17 years) with attention-deficit/hyperactivity disorder (ADHD) and the differences in the adjusted incremental direct expenditures with respect to age groups (preschoolers, 0–5 years; children, 6–11 years; and adolescents, 12–17 years).

Methods

The 2011 Medical Expenditure Panel Survey was used as the data source. The ADHD cohort consisted of patients aged 0 to 17 years with a diagnosis of ADHD, whereas the non-ADHD cohort consisted of subjects in the same age range without a diagnosis of ADHD. The annual incremental total cost of ADHD is composed of the incremental direct expenditures and indirect costs. A two-part model with a logistic regression (first part) and a generalized linear model (second part) was used to estimate the incremental costs of ADHD while controlling for patient characteristics and access-to-care variables.

Results

The 2011 Medical Expenditure Panel Survey database included 9108 individuals aged 0 to 17 years, with 458 (5.0%) having an ADHD diagnosis. The ADHD cohort was 4.90 times more likely (95% confidence interval [CI] 2.97–8.08; P < 0.001) than the non-ADHD cohort to have an expenditure of at least $1, and among those with positive expenditures, the ADHD cohort had 58.4% higher expenditures than the non-ADHD cohort (P < 0.001). The estimated adjusted annual total incremental cost of ADHD was $949.24 (95% CI $593.30–$1305.18; P < 0.001). The adjusted annual incremental total direct expenditure for ADHD was higher among preschoolers ($989.34; 95% CI $402.70–$1575.98; P = 0.001) than among adolescents ($894.94; 95% CI $428.16–$1361.71; P < 0.001) or children ($682.71; 95% CI $347.94–$1017.48; P < 0.001).

Conclusions

Early diagnosis and use of evidence-based treatments may address the substantial burden of ADHD.  相似文献   
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The aim of present investigation is to improve dissolution rate of poor soluble drug Zotepine by a self-microemulsifying drug delivery system (SMEDDS). Ternary phase diagram with oil (Oleic acid), surfactant (Tween 80) and co-surfactant (PEG 400) at apex were used to identify the efficient self-microemulsifying region. Box–Behnken design was implemented to study the influence of independent variables. Principal Component Analysis was used for scrutinising critical variables. The liquid SMEDDS were characterised for macroscopic evaluation, % Transmission, emulsification time and in vitro drug release studies. Optimised formulation OL1 was converted in to S-SMEDDS by using Aerosil® 200 as an adsorbent in the ratio of 3:1. The S-SMEDDS was characterised by SEM, DSC, globule size (152.1?nm), zeta-potential (?28.1?mV), % transmission study (98.75%), in vitro release (86.57%) at 30?min. The optimised solid SMEDDS formulation showed faster drug release properties as compared to conventional tablet of Zotepine.  相似文献   
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This case reports describes a 39-year-old female with a history of surgically repaired hypoplastic left heart syndrome who presented with a left peripherally inserted central catheter (PICC) with associated large volume subclavian and brachiocephalic vein thrombus. Due to the presence of a right-to-left shunt via a fenestrated Fontan, there was clinical concern for a paradoxical embolism during removal of the PICC. The AngioVac aspiration system was successfully utilized to aspirate thromboemboli from the level of the proximal Glenn shunt during manipulation and removal of the PICC. This is the first reported case to demonstrate the safe and effective use of the AngioVac aspiration system for protection of paradoxical emboli through a cardiac right-to-left shunt during a procedure at high risk for thromboembolism.  相似文献   
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Celiac disease (CD) is an autoimmune enteropathy triggered by ingestion of gluten present in wheat, barley, and rye. Gluten along with environmental trigger starts an inflammatory reaction which results in damage to small intestine. Human leukocyte antigen (HLA)-DQA1∗05, -DQB1∗02, and -DQB1∗03:02 are the known risk alleles of CD. The diagnostic method for CD involves serological or intestinal biopsy, but genetic test could be implemented. HLA typing precludes the need for further diagnosis and it has high negative predictive value. The aim of this study was to make aware of HLA molecular typing for celiac disease among local laboratories and healthcare professionals. The prevalence and frequency distribution of HLA-DQ2 and -DQ8 haplotypes in 175 pediatric unrelated healthy controls, celiac patients, and CD with concurrent diabetes mellitus type 1 (DM1) was evaluated. The most common haplotype was DQ2 followed by DQ8. In control group only DQ2 was observed with frequency of 8.5%. In celiac patients 85.7% were DQ2, 11.4% were DQ8, and rest were DQ2/DQ8 (2.8%), and all had CD. In the group of CD with DM1, 31.4% had DQ2, 25% had DQ8, and 34% having both the haplotypes; while only 9 of these patients were suffering from CD. It was concluded that Celiac disease is frequently unrecognized by physicians, in part because of its variable clinical presentation and symptoms. Thus genetic testing for celiac disease could be an additive tool for diagnosis to exclude ambiguity.  相似文献   
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