Maple syrup urine disease

Maple syrup urine disease: A hereditary disease that is due to deficiency of an enzyme involved in amino acid metabolism, characterized by urine that smells like maple syrup. In maple syrup urine disease, the three branched-chain amino acids (leucine, isoleucine, and valine) cannot be metabolized (processed), and they build up in the blood, causing problems with brain function and leading to mental retardation, physical disability, and death, if not treated. Treatment involves use of a special diet and monitoring of protein intake.

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Factors influencing the absorption of vitamin D in GIT: an overview

Abstract

Vitamin D refers to a group of secosteroid compounds and recognized as the antirachitic vitamin, as it counters rickets, mineral desorption from fully-grown bones (Osteodistrophy), bone, joint disorders, and fragility of bones. On one hand, there is scarcity of vitamin D rich food while on other hand a number of factors negotiate its absorption efficiency in human gastrointestinal tract (GIT). These factors include variations in the physiochemical state of the vitamin D (molecular forms, potency and their physiological linkages), the complexity of food matrix (the amount and type of fatty acids, dietary fibers and presence/absence of vitamin D enhancer and inhibitor), and its interaction of other fat soluble compounds with vitamin D as well as the host-associated factors (age, disease, surgery, obesity, genetic variation etc.). It is hypothesized that the bioavailability of vitamin D in GIT is compromised if there changes within these factors. Present article is intended to review the contribution of these factors anticipated to be influencing vitamin D absorption in GIT.

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Oil shale powders and their interactions with ciprofloxacin, ofloxacin, and oxytetracycline antibiotics

Abstract

The interaction of oil shale, as a widespread sedimentary rock, with common antibiotics ofloxacine, oxytetracycline, and ciprofloxacine was studied. The selected Moroccan deposit and its thermally treated forms were fully characterized from a chemical and structural point of view, indicating the prevalence of quartz as a mineral component together with aluminum- and iron-rich phase that are converted into Al-doped iron oxide phases upon heating. The presence of 4 wt% organics was also detected, which was removed at 550 °C without significant loss of specific surface area. The pseudo-second-order kinetic model and Langmuir equation were found the most adequate to reproduce the kinetics and isothermal sorption experiments. These analyses enlighten the contribution of the organic matter on antibiotic retention as well as the key role of hydrophobic interactions on the molecule-mineral surface interactions. Our results emphasize the possible contribution of raw oil shale in the accumulation of antibiotics in soils and suggest that thermally treated oil shell powders can constitute cheap mineral sorbents for environmental cleaning.

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Gallic acid induces G1 phase arrest and apoptosis of triple-negative breast cancer cell MDA-MB-231 via p38 mitogen-activated protein kinase/p21/p27 axis.

Gallic acid (GA) possesses potential antitumoral activity on different types of malignancies. In this study, we aimed to explore the antitumoral effects of GA on triple-negative breast cancer (TNBC) cells, the breast cancer cells showing resistance to hormonal therapy or HER2 receptor targeting therapy. We observed that GA treatment significantly decreased the cell viability of human TNBC cell line MDA-MB-231 and HS578T in a dose-dependent manner. In addition, GA exerted a relative lower cytotoxicity on noncancer breast fibroblast MCF-10F. Next, we analyzed the changes of cell-cycle distribution in response to GA treatment and found that GA led to an increase of G0/G1 and sub-G1 phase ratio in MDA-MB-231 cells. We further explored the crucial mediators controlling cell cycle and inducing apoptotic signaling, and the findings showed that GA downregulated cyclin D1/CDK4 and cyclin E/CDK2, upregulated p21Cip1and p27Kip1, and induced activation of caspase-9 and caspase-3. In addition, we demonstrated that p38 mitogen-activated protein kinase was involved in the GA-mediated cell-cycle arrest and apoptosis. Collectively, our findings indicate that GA inhibits the cell viability of TNBC cells, which may attribute to the G1 phase arrest and cellular apoptosis via p38 mitogen-activated protein kinase/p21/p27 axis. Thus, we suggest that GA could be beneficial to TNBC treatment. Copyright (C) 2017 Wolters Kluwer Health, Inc. All rights reserved.

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Human MMAA induces the release of inactive cofactor and restores methylmalonyl-CoA mutase activity through their complex formation

Publication date: Available online 22 September 2017
Source:Biochimie
Author(s): Toshiko Takahashi-Iñiguez, Alfonso González-Noriega, Colette Michalak, María Elena Flores
Human mitochondrial methylmalonyl-CoA mutase (hMCM) is an isomerase that converts methylmalonyl-CoA to succinyl-CoA, a crucial step for the incorporation of some compounds derived from the diet into the central metabolism. hMCM employs highly reactive radicals from its cofactor (adenosylcobalamin, AdoCbl) to perform its reaction. Our previous work demonstrated that hMCM loses activity during catalysis and that the interaction with human MMAA (hMMAA), a GTPase protein, avoided this loss or restored hMCM activity. Even so, the mechanism by which hMMAA exerted these chaperone functions has not been described. In this work report that the formation and accumulation of OH2Cbl, the oxidized form of the AdoCbl cofactor formed during catalysis, is the cause of hMCM inactivation. Additionally, we demonstrate that the complex formation of hMCM/hMMAA decreases the rate of oxidized cofactor formation, protecting the hMCM enzyme. Moreover, an inactive model of hMCM was used to demonstrate that hMMAA is able to remove the damaged cofactor through GTP hydrolysis. Additionally, a modification in the kinetic parameters of hMCM in presence of hMMAA was observed, and for the first time, the in vivo localization of hMMAA and its co-localization with hMCM in human fibroblasts mitochondria were demonstrated.



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Clozapine-induced acute gastrointestinal necrosis: a case report

Clozapine is known to cause fecal impaction and ileus with resultant colonic necrosis due to compression of colonic mucosa. There are rare reports of clozapine causing necrosis of other portions of the gastroi...

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N-of-1 trials for assessing the effects of deprescribing medications on short-term clinical outcomes in older adults: a systematic review

Publication date: Available online 22 September 2017
Source:Journal of Clinical Epidemiology
Author(s): Alexander J. Clough, Sarah N. Hilmer, Sharon L. Naismith, Luke Kardell, Danijela Gnjidic
ObjectiveTo determine the feasibility of using the N-of-1 method for deprescribing trials in older adults.Study Design and SettingSystematic review identifying any human studies conducted in older adults (≥ 50 years), deprescribing any long-term treatment over less than a year using the N-of-1 trial method. Two authors independently reviewed all articles for eligibility and extracted data. The review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Quality assessment of trials was carried out using the Physiotherapy Evidence Database (PEDro) scale.ResultsSix studies were identified and extracted. All trials investigated the efficacy of therapies for treating diseases. Four trials resulted in a significant number of patients (44-64%) discontinuing their medication due to non-significant benefits of treatment. In two studies, all participants remained on their respective treatment after trial completion.ConclusionThe use of the N-of-1 method was able to effectively determine the impact of individual treatments on patient-specific outcomes, improving the care of older adults. However, use of the N-of-1 method has rarely been reported in deprescribing research, although it has been utilised in other fields.



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Registry-based randomized controlled trials merged the strength of randomized controlled trails and observational studies and give rise to more pragmatic trials

Publication date: Available online 22 September 2017
Source:Journal of Clinical Epidemiology
Author(s): Tim Mathes, Stefanie Buehn, Peggy Prengel, Dawid Pieper
ObjectiveTo analyze the features of registry-based randomized trials (rRCT).Study DesignWe systematically searched PubMed for rRCTs. Study selection was performed independently by two reviewers. We extracted all data in standardized tables and prepared descriptive summary statistics.ResultsThe search resulted in 1202 hits. We included 71 rRCTs. Most rRCTs were from Denmark and Sweden. Chronic conditions were considered in 82.2%. A preventive intervention was examined in 45.1%. The median of included patients was 2000 (range: 69-246,079). Definition of the study population was mostly broad. Study procedures were regularly little standardized. The number of included and analyzed patients was the same in 82.1%. In half of the rRCTs more than one registry was utilized. Various linkage techniques were used. In median two outcomes were collected from the registry/ies. The median follow-up of the rRCTs was 5.3 years (range: 6 weeks-27 years). Information on quality of registry data was reported in 11.3%.ConclusionrRCTs can provide valid (randomization, low lost-to-follow-up rates, generalizable) patient important long-term comparative-effectiveness data for relative little effort. Researchers planning a RCT should always check whether existing registries can be used for data collection. Reporting on data quality must be improved for use in evidence synthesis.



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Study design classification of registry-based studies in systematic reviews

Publication date: Available online 22 September 2017
Source:Journal of Clinical Epidemiology
Author(s): Tim Mathes, Dawid Pieper




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Validation of a questionnaire measuring transitional patient safety climate indicated differences in transitional patient safety climate between primary and secondary care

Publication date: Available online 22 September 2017
Source:Journal of Clinical Epidemiology
Author(s): Marije A. van Melle, Henk F. van Stel, Judith M. Poldervaart, Niek J. de Wit, Dorien LM. Zwart
BackgroundThis study describes the development and validation of the TRAnsitional patient safety Climate Evaluation (TRACE) questionnaire, measuring transitional patient safety climate from the perspective of general practitioners and hospital physicians. Patient safety climate reflects the professionals' perception of the organizational patient safety culture.Study Design and SettingsIn the development of the TRACE we adjusted existing questionnaires on patient safety culture. Exploratory factor analysis (EFA) was performed. Internal consistency and correlations between factors and a global transitional patient safety rating were calculated.ResultsIn total, 162 questionnaires were completed (response 23%; general practice: N=97, hospital physicians: N=65). Analysis of all respondents did not provide an interpretable factor solution. However, the EFA on the results of hospital physicians revealed 4 relevant factors: (1) Collaboration, (2) Speaking up, (3) Communication on transitional incidents and improvement measures, and (4) Transitional patient safety management. The internal consistency of these factors was good for hospital respondents (0.71 to 0.87) and fair to acceptable for general practices' respondents (0.63 to 0.72).ConclusionsAlthough the TRACE questionnaire did not provide a solid factor structure in a combined sample of general practice and hospital respondents, the factors found reliable in hospital setting had acceptable reliability in general practice setting.



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The effects on the student-teacher relationship in a one-to-one technology classroom

Abstract

This embedded case study explores the student-teacher relationship in a one-to-one technology environment. The actual change in relationship in a one-to-one classroom was examined. The study was guided by the self-system theory of motivation and its three characteristics of autonomy, relatedness, and competency as a theoretical framework. To explore this topic, the researchers considered the perspectives of four classroom teachers and 207 high school students at a suburban public high school in New Jersey. The case study research utilized teacher interviews, classroom observations, student surveys, and a student focus group. The findings revealed a notable change in the relationship between teachers and students within the one-to-one environment. The change existed in the connectivity between the teachers and their students beyond the classroom and school. The researchers concluded that the teachers and their students did have a positive relationship in a one-to-one environment and that relationship depended on the teacher's ability to engage students using the one-to-one device. The researchers concluded that the one-to-one environment creates an autonomous learning environment for students; teachers and students have a relatedness that extends beyond the traditional boundaries of a school; and a higher level of competency in both teachers and students creates a more engaging classroom. As one-to-one technology environments are becoming more popular across the country, this study contributes to a better understanding of the expected changes in teacher-student relationships before issues of conflict occur.

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Towards automated e-counselling system based on counsellors emotion perception

Abstract

Emotions are a core semantic component of human communication. Since counsellors are humans we assume that their own state of emotions could affect their intuitional effort when taking decisions concerning their clients. Therefore, the accuracy of detected emotions by counsellors could be doubtful. And this highlights the need for complementing the intuitional effort of counsellors by computational approach. Therefore, ascertaining the efficacy of computational algorithm, there is the need to benchmark with humans. In this paper, we explore empirically, the extent to which counsellors own emotional states influence their perception of emotions expressed in text. This influence is investigated through the level of agreement among counsellors when annotating emotions expressed in students' personal life's stories. The result shows strong intra-counsellor annotation agreement of emotions while inter-counsellors annotation agreement was low. Furthermore, the intra-annotation agreement of emotions was found to be strongly correlated to the counsellors' self-reported emotions. We speculate, based on the findings, that the emotional state of counsellors influences their emotion perception while tracking emotions in text. Based on the results, we discuss the advantages of using an automated e-counselling system for emotion analysis.

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Physical Activity in Preventing Alzheimer’s Disease and Cognitive Decline: A Narrative Review

Abstract

A large body of epidemiological and experimental data exploring the relationship between physical activity (PA) and Alzheimer's disease (AD) are now available. Despite observational evidence supporting a role for PA in delaying the onset of AD, randomised controlled trials have reported mixed findings, likely due to the heterogeneity in study cohorts, outcome measures, and the adopted PA intervention. The primary objective of this narrative review is to evaluate the extant evidence on the relationship between PA, cognitive decline and AD in older populations. The interaction between PA and the putative mechanisms underlying AD progression, including genetic factors and amyloid-β levels will be explored. In this context, particular attention will be given to studies assessing PA in the early clinical and preclinical, asymptomatic stages of AD. Based on current evidence, clinical considerations for implementation of exercise-based interventions are discussed, along with limitations of previous research and directions for future studies.

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Recruiting primary care physicians to qualitative research: Experiences and recommendations from a childhood cancer survivorship study

Abstract

Background

Primary care physicians (PCPs) are essential for healthcare delivery but can be difficult to recruit to health research. Low response rates may impact the quality and value of data collected. This paper outlines participant and study design factors associated with increased response rates among PCPs invited to participate in a qualitative study at Sydney Children's Hospital, Australia.

Procedure

We invited 160 PCPs by post, who were nominated by their childhood cancer patients in a survey study. We followed-up by telephone, email, or fax 2 weeks later.

Results

Without any follow-up, 32 PCPs opted in to the study. With follow-up, a further 42 PCPs opted in, with email appearing to be the most effective method, yielding a total of 74 PCPs opting in (46.3%). We reached data saturation after 51 interviews. On average, it took 34.6 days from mail-out to interview completion. Nonrespondents were more likely to be male (P = 0.013). No survivor-related factors significantly influenced PCPs' likelihood of participating. Almost double the number of interviews were successfully completed if scheduled via email versus phone. Those requiring no follow-up did not differ significantly to late respondents in demographic/survivor-related characteristics.

Conclusion

PCP factors associated with higher opt in rates, and early responses, may be of interest to others considering engaging PCPs and/or their patients in cancer-related research, particularly qualitative or mixed-methods studies. Study resources may be best allocated to email follow-up, incentives, and personalization of study documents linking PCPs to patients. These efforts may improve PCP participation and the representativeness of study findings.

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Recurrent desmoplastic small round cell tumor responding to an mTOR inhibitor containing regimen

Abstract

Desmoplastic small round cell tumor (DSRCT) is a rare mesenchymal tumor that typically presents with multiple abdominal masses. Initial treatment is multimodal in nature. Patients with relapsed DSRCT have a poor prognosis, and there are no standard therapies. We report our experience with five patients treated with vinorelbine, cyclophosphamide, and temsirolimus (VCT). Median number of VCT courses delivered was 7 (range 4–14 courses), and partial response was observed in all patients. Median time to progression or relapse was 8.5 months (range 7–16 months). Neutropenia and mucositis were most common toxicities (n = 4 each).

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Palonosetron is nonsuperior to ondansetron in acute phase but provides superior antiemetic control in delayed phase for pediatric patients administered highly emetogenic chemotherapy

Abstract

Purpose

Chemotherapy-induced nausea and vomiting (CINV) in children remains to be a major side effect despite antiemetic treatment. Palonosetron is a new generation 5-HT₃ receptor antagonists effective against acute and delayed nausea and vomiting. This study aimed to compare the therapeutic values of palonosetron and ondansetron in preventing pediatric CINV.

Methods

A prospective, randomized, double-blind, parallel controlled study was conducted in 0–18 years old cancer patients administered highly emetogenic chemotherapy, with different dosage of palonosetron or ondansetron, both followed by dexamethasone. The patients were observed for vomiting and nausea from 0 to 120 hr after chemotherapy initiation. All adverse events (AEs) during the study period were recorded. This study was registered with the Chinese Clinical Trial Registry, number ChiCTR-TRC-14004891.

Results

Between August 2014 and July 2016, 565 patients were randomly assigned to receive 5 μg/kg palonosetron (n = 185), 10 μg/kg palonosetron (n = 186), and 3 × 150 μg/kg ondansetron (n = 194), of whom 181, 185, and 189, respectively, were included in the efficacy analysis. Complete response (CR) rates during the acute phase were 69.1, 69.7, and 64.6%, respectively, in the 5 μg/kg palonosetron, 10 μg/kg palonosetron, and ondansetron groups. In the delayed phase, 10 μg/kg palonosetron (CR, 53.5%) showed superiority to 5 μg/kg palonosetron (CR, 39.8%) and ondansetron (CR, 32.8%) groups (P < 0.05). The most frequently observed drug-related AEs were nervous system disorders, mainly headache, with an incidence of 2.8, 2.2, and 2.6% in each group, respectively.

Conclusion

Combination of palonosetron plus dexamethasone is highly effective in controlling acute and delayed CINV, with palonosetron superior to ondansetron.

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A phase II study of radioimmunotherapy with intraventricular 131I-3F8 for medulloblastoma

Abstract

Background

High-risk and recurrent medulloblastoma (MB) is associated with significant mortality. The murine monoclonal antibody 3F8 targets the cell-surface disialoganglioside GD2 on MB. We tested the efficacy, toxicity, and dosimetry of compartmental radioimmunotherapy (cRIT) with intraventricular ¹³¹I-labeled 3F8 in patients with MB on a phase II clinical trial.

Methods

Patients with histopathologically confirmed high-risk or recurrent MB were eligible for cRIT. After determining adequate cerebrospinal fluid (CSF) flow, patients received 2 mCi (where Ci is Curie) ¹²⁴I-3F8 or ¹³¹I-3F8 with nuclear imaging for dosimetry, followed by up to four therapeutic (10 mCi/dose) ¹³¹I-3F8 injections. Dosimetry estimates were based on serial CSF and blood samplings over 48 hr plus region-of-interest analyses on serial imaging scans. Disease evaluation included pre- and posttherapy brain/spine magnetic resonance imaging approximately every 3 months for the first year after treatment, and every 6–12 months thereafter.

Results

Forty-three patients received a total of 167 injections; 42 patients were evaluable for outcome. No treatment-related deaths occurred. Toxicities related to drug administration included acute bradycardia with somnolence, headache, fatigue, and CSF pleocytosis consistent with chemical meningitis and dystonic reaction. Total CSF absorbed dose was 1,453 cGy (where Gy is Gray; 350.0–2,784). Median overall survival from first dose of cRIT was 24.9 months (95% confidence interval [CI]:16.3–55.8). Patients treated in radiographic and cytologic remission were at a lower risk of death compared to patients with radiographically measurable disease (hazard ratio: 0.40, 95% CI: 0.18–0.88, P = 0.024).

Conclusions

cRIT with ¹³¹I-3F8 is safe, has favorable dosimetry to CSF, and when added to salvage therapy using conventional modalities, may have clinical utility in maintaining remission in high-risk or recurrent MB.

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BDNF/TrkB axis activation promotes epithelial–mesenchymal transition in idiopathic pulmonary fibrosis

Neurotrophins (NT) belongs to a family of growth factors which promotes neurons survival and differentiation. Increasing evidence show that NT and their receptor are expressed in lung tissues suggesting a poss...

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Treatment of lumbar degenerative disc disease-associated radicular pain with culture-expanded autologous mesenchymal stem cells: a pilot study on safety and efficacy

Degenerative disc disease (DDD) is a common cause of lower back pain with radicular symptoms and has a significant socioeconomic impact given the associated disability. Limited effective conservative therapeut...

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Infiltrating Lobular Breast Cancer Presenting as Isolated Gastric Metastasis: a Case Report

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