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Missing response

Mohammad F Aljabri, Naglaa M Kamal, Moinuddin Arif, Asrar M AlQaedi, Enas Y M Santali
BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTRBGD) is a neurometabolic autosomal recessive (AR) disorder characterized by subacute encephalopathy with confusion, convulsions, dysarthria, and dystonia. The disease is completely reversible if treated early with biotin and thiamine, and can be fatal if left untreated.We herein present our experience with in an extended family study of an index case of BTRBGD aiming to support its AR mode of inheritance, diagnose asymptomatic and missed symptomatic cases, and provide family screening with proper genetic counseling...
October 2016: Medicine (Baltimore)
Tarig Ali-Dinar, Jason E Lang
Obesity is a major risk factor for several conditions including atherosclerotic disease, metabolic syndrome, and upper airway dysfunction. However, the purported link between obesity and asthma has remained more difficult to define, in part due to limitations in past epidemiologic studies and the inherent challenge in accurately defining asthma in children. It is possible that obesity leads to asthma only in the presence of a mediating variable such as an obesity-related conditions such as esophageal reflux or insulin resistance...
October 17, 2016: Pediatric Pulmonology
Dimitrios A Pappas, Ani John, Jeffrey R Curtis, George W Reed, Chitra Karki, Robert Magner, Joel M Kremer, Ashwini Shewade, Jeffrey D Greenberg
INTRODUCTION: In the United States, the recommended starting dose of intravenous tocilizumab (TCZ) is 4 mg/kg every 4 weeks, with an increase to 8 mg/kg based on clinical response for patients with moderate to severe rheumatoid arthritis; however, data on how TCZ dose is escalated in real life are missing. The objective of this analysis was to describe patterns of early intravenous TCZ dose escalation in a real-world setting using data from the Corrona registry. METHODS: All patients enrolled in the comparative effectiveness substudy (CERTAIN) nested within Corrona who initiated TCZ and completed 3- and 6-month study visits were eligible for inclusion...
June 2016: Rheumatol Ther
Vinayak S Gowda, Dhruv Anand, Manoj Kumar Sundar, Agnelo Michael Reveredo, Shilpa Shetty
Dental implants with their increasing success rates and predictability of final outcome are fast becoming the treatment of choice for replacing missing teeth. Considering the success of immediate implant placement in reducing tissue loss and achieving good esthetic results, is making it a more popular treatment modality in implant dentistry. Understanding the management of gingival tissues in relation to implants to obtain maximum esthetics is of utmost importance. The use of provisional abutments and immediate temporization has a proven track record of their ability to produce optimal esthetics and to guide the tissue response during the healing phase...
October 2016: Journal of Indian Prosthodontic Society
Naja I Beck, Issra Arif, Michelle F Paumier, Kathryn H Jacobsen
OBJECTIVES: The goals of this study were to identify the proportion of early adolescents in southern South America who were injured in the past year, to identify risk behaviours and other exposures associated with injuries, and to evaluate the most common types and causes of injury in this population. METHODS: We used complex samples analysis to examine cross-sectional data from more than 35,000 students from all four countries in South America that participated in the Global School-based Student Health Survey (GSHS) in 2012-2013...
October 6, 2016: Injury
Feng-Hua Wang, Yun Wang, Zhen-Dong Chen, Jian-Hua Chen, Feng-Zhan Qin, Wen-Qi Jiang, Yu-Hong Li
Recombinant human lymphotoxin-α derivative (rhLTα-Da) is a lymphotoxin-α derivative missing 27 N-terminal amino acid residues. This multicenter phase IIa trial was conducted to evaluate the safety, efficacy and pharmacokinetics of rhLTα-Da with cisplatin (DDP) and 5-fluorouracil (5-Fu) for metastatic esophageal squamous cell cancer (ESCC) and gastric adenocarcinoma (GC). Two different rhLTα-Da doses (10 µg/m(2)/d and 20 µg/m(2)/d) in combination with DDP and 5-Fu were evaluated in this study. The first 6 ESCC and 6 GC patients were given 10 µg/m(2)/d rhLTα-Da followed by DDP (15 mg/m(2)/d) and 5-Fu (750 mg/m(2)/d) on days 1-5...
November 2016: Medical Oncology
Amy Luckowski
AIM: This qualitative study utilizes Moustakas's psychological phenomenology to explore the lived experiences in the clinical setting of nursing students with disabilities. BACKGROUND: Overall, the numbers of college students with disabilities are increasing, and more students with disabilities are being admitted into nursing programs. METHOD: A purposive sample of 13 junior and senior baccalaureate nursing students with self-declared disabilities from two Northeastern baccalaureate nursing programs were interviewed...
September 2016: Nursing Education Perspectives
Atsuko Taguchi, Hiroshi Murayama, Sachiyo Murashima
OBJECTIVES: To explore the association between health literacy and levels of three types of core activities among health promotion volunteers (developing a healthy lifestyle, outreach to family, and outreach to community members). STUDY DESIGN: A cross-sectional, anonymous, self-administered postal survey of registered health promotion volunteers in the Konan area in Shiga Prefecture in Japan, conducted in January 2010. The study sample was 575 registered health promotion volunteers...
2016: PloS One
Leanne Sakzewski, Sarah Reedman, Tammy Hoffmann
BACKGROUND: Incomplete reporting of components of interventions limits uptake of evidence into clinical practice. AIMS: To evaluate the completeness of reporting of research and control interventions in randomised trials of upper limb therapies for children with unilateral cerebral palsy. METHODS AND PROCEDURES: Sixty randomized trials were included, encompassing 60 research and 68 control interventions. Using the 12-item Template for Intervention Description and Replication (TIDieR) checklist, two reviewers independently rated intervention and control descriptions...
October 10, 2016: Research in Developmental Disabilities
Chana Wiesman, Esther Rose, Allison Grant, Adam Zimilover, Susan Klugman, Nicole Schreiber-Agus
PURPOSE: The notion of offering population-based screening to the Ashkenazi Jewish (AJ) population for the BRCA1/2 founder mutations continues to gain support. A program called the BRCAcommunity initiative was designed to identify the benefits and barriers associated with implementing this screening in a clinical setting. METHODS: Interested AJ individuals were stratified into high-risk (HR) and low-risk (LR) groups based on self-reported cancer histories. Those at HR were offered traditional genetic counseling/testing; those at LR were offered group genetic counseling and subsidized AJ BRCA founder mutation testing...
October 13, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Yogesh Sharma, Michelle Miller, Rashmi Shahi, Paul Hakendorf, Chris Horwood, Campbell Thompson
BACKGROUND: The rate of malnutrition among hospitalised elderly patients in Australia is 42.3%. Malnutrition is known to lead to significant adverse outcomes for the patients and increase hospital costs through increased use of resources. AIM: This study assessed nutrition screening adequacy and investigated factors associated with missed opportunity to diagnose malnutrition. METHODS: A prospective cross-sectional study involving 205 general medical patients aged ≥60 years admitted acutely in a tertiary hospital over a period of 1 year...
October 13, 2016: British Journal of Nursing: BJN
Ilaria Galizia, Lucio Oldani, Karine Macritchie, Erica Amari, Dominic Dougall, Tessa N Jones, Raymond W Lam, Guido Jacopo Massei, Lakshmi N Yatham, Allan H Young
BACKGROUND: Depression is a recurrent illness with high rates of chronicity, treatment-resistance and significant economic impact. There is evidence in the literature that S-adenosyl methionine (SAMe), a naturally occurring compound in the human body, has antidepressant efficacy. This product may be an important addition to the armamentarium of antidepressant agents. OBJECTIVES: To assess the effects of SAMe in comparison with placebo or antidepressants for the treatment of depression in adults...
October 10, 2016: Cochrane Database of Systematic Reviews
Kimberley S Mak, Angela B Smith, Alec Eidelman, Rebecca Clayman, Andrzej Niemierko, Jed-Sian Cheng, Jonathan Matthews, Michael R Drumm, Matthew E Nielsen, Adam S Feldman, Richard J Lee, Anthony L Zietman, Ronald C Chen, William U Shipley, Matthew I Milowsky, Jason A Efstathiou
PURPOSE: Health-related quality of life (QOL) has not been well-studied in survivors of muscle-invasive bladder cancer (MIBC). The present study compared long-term QOL in MIBC patients treated with radical cystectomy (RC) versus bladder-sparing trimodality therapy (TMT). METHODS AND MATERIALS: This cross-sectional bi-institutional study identified 226 patients with nonmetastatic cT2-cT4 MIBC, diagnosed in 1990 to 2011, who were eligible for RC and were disease free for ≥2 years...
August 24, 2016: International Journal of Radiation Oncology, Biology, Physics
Amanda Field, Jie Xiang, W Ray Anderson, Patricia Graham, Leslie Pick
The orphan nuclear receptor Ftz-F1 is expressed in all somatic nuclei in Drosophila embryos, but mutations result in a pair-rule phenotype. This was explained by the interaction of Ftz-F1 with the homeodomain protein Ftz that is expressed in stripes in the primordia of segments missing in either ftz-f1 or ftz mutants. Ftz-F1 and Ftz were shown to physically interact and coordinately activate the expression of ftz itself and engrailed by synergistic binding to composite Ftz-F1/Ftz binding sites. However, attempts to identify additional target genes on the basis of Ftz-F1/ Ftz binding alone has met with only limited success...
2016: PloS One
Byung-Chul Son, Young Min Shon, Seong-Hoon Kim, Jin-Gyu Choi, Jiyeon Kim
OBJECTIVES: Interpreting the postoperative electroencephalographic (EEG) driving response (DR) as an indicator of electrode placement within the thalamic nucleus in deep brain stimulation (DBS) of the anterior nucleus of the thalamus (ANT) for refractory epilepsy is controversial. MATERIALS AND METHODS: We retrospectively investigated the relationship between postoperative EEG DR and the location of 11 electrodes in 6 patients who underwent ANT DBS for refractory epilepsy...
October 11, 2016: Stereotactic and Functional Neurosurgery
Samantha L Schoell, Andrea N Doud, Ashley A Weaver, Jennifer W Talton, Ryan T Barnard, James E Winslow, Joel D Stitzel
BACKGROUND: Occult injuries are not easily detected and can be potentially life-threatening. The purpose of this study was to quantify the perceived occultness of the most frequent motor vehicle crash injuries according to emergency medical services (EMS) professionals. STUDY DESIGN: An electronic survey was distributed to 1,125 EMS professionals who were asked to quantify the likelihood that first responders would miss symptoms related to a particular injury on a 5-point Likert scale...
October 7, 2016: Accident; Analysis and Prevention
Nader I Al-Dewik, Hisham M Morsi, Muthanna M Samara, Rola S Ghasoub, Cinquea C Gnanam, Subi K Bhaskaran, Abdulqadir J Nashwan, Rana M Al-Jurf, Mohamed A Ismail, Mohammed M AlSharshani, Ali A AlSayab, Tawfeg I Ben-Omran, Rani B Khatib, Mohamed A Yassin
BACKGROUND: Despite the revolutionary success of introducing tyrosine kinase inhibitors (TKIs), such as imatinib mesylate (IM), for treating chronic myeloid leukemia (CML), a substantial proportion of patients' treatments fail. AIM: This study investigates the correlation between patient adherence and failure of TKIs' treatment in a follow-up study. METHODS: This is a follow-up study of a new cohort of CML patients. Adherence to IM is assessed using the Medication Event Monitoring System (MEMS 6 TrackCap, AARDEX Ltd)...
2016: Clinical Medicine Insights. Oncology
Ying Chang, Yanhui Luo, Yuchen Zhou, Ruixin Wang, Na Song, Guanghua Zhu, Bin Wang, Maoquan Qin, Jun Yang, Yuan Sun, Chunfu Li, Xuan Zhou
BACKGROUND: Long-term health-related quality of life (HRQoL) of pediatric patients after hematopoietic stem cell transplantation (HSCT) is increasingly studied worldwide. However, few studies have been performed in China, where no uniform scale is available; the PedsQL™ Cancer Module 3.0 Chinese Mandarin version has been used to evaluate HRQoL of patients after HSCT in China. This study aimed to assess the reliability and validity of the Chinese Mandarin version of PedsQL™ 3.0 Transplant Module...
October 5, 2016: Health and Quality of Life Outcomes
Yuan Fang, Lei Wang, Ximeng Wang, Qi You, Xiucai Pan, Jin Xiao, Xiu-E Wang, Yufeng Wu, Zhen Su, Wenli Zhang
BACKGROUND: Bidirectional gene pairs are highly abundant and mostly co-regulated in eukaryotic genomes. The structural features of bidirectional promoters (BDPs) have been well studied in yeast, humans and plants. However, the underlying mechanisms responsible for the coexpression of BDPs remain understudied, especially in plants. RESULTS: Here, we characterized chromatin features associated with rice BDPs. Several unique chromatin features were present in rice BDPs but were missing from unidirectional promoters (UDPs), including overrepresented active histone marks, canonical nucleosomes and underrepresented H3K27me3...
September 30, 2016: BMC Genomics
Pamela Paxton, Robyn Rap Keith
Sociologists have long been attentive to participation in associational life. Yet, despite being repeatedly cautioned to consider more informal groups, most researchers focus on participation in formal voluntary associations using national surveys with fixed group categories, such as the General Social Survey (GSS). In this paper, we use new GSS data on the names of the voluntary associations listed by respondents to evaluate whether voluntary association prompts capture or miss various types of informal associations...
November 2016: Social Science Research
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