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Tiffany A Brown, Anne Cusack, Leslie K Anderson, Julie Trim, Tiffany Nakamura, Mary Ellen Trunko, Walter H Kaye
Partial hospital programmes (PHPs) have demonstrated efficacy in the treatment of eating disorders (EDs); however, few programmes have examined long-term outcomes across diagnoses, including subtypes of anorexia nervosa (AN). The present study examined the effectiveness of PHP for adult patients (n = 243) with AN-restricting subtype (n = 79), AN binge/purge subtype (n = 46), and bulimia nervosa (n = 118). These patients tended to have long-standing courses of illness (43%, illness duration >7 years) and high levels of psychiatric comorbidity (92...
March 14, 2018: European Eating Disorders Review: the Journal of the Eating Disorders Association
Lishuang Shen, Marcella Attimonelli, Renkui Bai, Marie T Lott, Douglas C Wallace, Marni J Falk, Xiaowu Gai
Accurate mitochondrial DNA (mtDNA) variant annotation is essential for the clinical diagnosis of diverse human diseases. Substantial challenges to this process include the inconsistency in mtDNA nomenclatures, the existence of multiple reference genomes, and a lack of reference population frequency data. Clinicians need a simple bioinformatics tool that is user-friendly, and bioinformaticians need a powerful informatics resource for programmatic usage. Here, we report the development and functionality of the MSeqDR mtDNA Variant Tool set (mvTool), a one-stop mtDNA variant annotation and analysis web service...
March 14, 2018: Human Mutation
Melvin Y Rincon, Filip de Vin, Sandra I Duqué, Shelly Fripont, Stephanie A Castaldo, Jessica Bouhuijzen-Wenger, Matthew G Holt
Until recently, adeno-associated virus 9 (AAV9) was considered the AAV serotype most effective in crossing the blood-brain barrier (BBB) and transducing cells of the central nervous system (CNS), following systemic injection. However, a newly engineered capsid, AAV-PHP.B, is reported to cross the BBB at even higher efficiency. We investigated how much we could boost CNS transgene expression by using AAV-PHP.B carrying a self-complementary (sc) genome. To allow comparison, 6 weeks old C57BL/6 mice received intravenous injections of scAAV2/9-GFP or scAAV2/PHP...
March 9, 2018: Gene Therapy
Michele Berselli, Enrico Lavezzo, Stefano Toppo
Motivation: Non-B DNA conformations play an important role in genomic rearrangements, structural three-dimensional organization and gene regulation. Many non-B DNA structures show symmetrical properties as palindromes and mirrors that can form hairpins, cruciform structures or triplexes. A comprehensive tool, capable to perform a fast genome wide search for exact and degenerate symmetrical patterns, is needed for further investigating nucleotide tracts potentially forming non-B DNA structures...
March 7, 2018: Bioinformatics
L Underbjerg, T Sikjaer, L Rejnmark
OBJECTIVE: Non-surgical hypoparathyroidism (NS-HypoPT) and pseudohypoparathyroidism (PHP) are rare diseases, with a prevalence of 2/100.000 and 1/100.000, respectively. Only few studies on Quality of Life (QoL) among patients with Ns-HypoPT and PHP are available. We aimed to investigate the QoL among patients with Ns-HypoPT and PHP including information about education. DESIGN: A cohort study with patients identified from a previously epidemiological study. PATIENTS: 57 patients with Ns-HypoPT and 30 patients with PHP...
March 9, 2018: Clinical Endocrinology
Ting-Yuan Wang, Nan-Yow Chen, Guan-Wei He, Guo-Tzau Wang, Chi-Tin Shih, Ann-Shyn Chiang
Effective 3D visualization is essential for connectomics analysis, where the number of neural images easily reaches over tens of thousands. A formidable challenge is to simultaneously visualize a large number of distinguishable single-neuron images, with reasonable processing time and memory for file management and 3D rendering. In the present study, we proposed an algorithm named "Kaleido" that can visualize up to at least ten thousand single neurons from the Drosophila brain using only a fraction of the memory traditionally required, without increasing computing time...
March 3, 2018: Neuroinformatics
Sarmila Mazumder, Ravi Prakash Upadhyay, Zelee Hill, Sunita Taneja, Brinda Dube, Jasmine Kaur, Medha Shekhar, Runa Ghosh, Shruti Bisht, Jose Carlos Martines, Rajiv Bahl, Halvor Sommerfelt, Nita Bhandari
BACKGROUND: Low and middle income countries (LMICs), including India, contribute to a major proportion of low birth weight (LBW) infants globally. These infants require special care. Kangaroo Mother Care (KMC) in hospitals is a cost effective and efficacious intervention. In institutional deliveries, the duration of facility stay is often short. In LMICs, a substantial proportion of deliveries still occur at home and access to health care services is limited. In these circumstances, a pragmatic choice may be to initiate KMC at home for LBW babies...
March 2, 2018: BMC Public Health
Arrate Pereda, Intza Garin, Guiomar Perez de Nanclares
BACKGROUND: Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may present with the Albright's hereditary osteodystrophy (AHO) phenotype, which is characterized by small stature, obesity with a rounded face, subcutaneous ossifications, mental retardation and brachydactyly, its manifestations are somewhat variable. Indeed, some of them present with a complete phenotype, whereas others show only subtle manifestations...
March 2, 2018: BMC Medical Genetics
Amanda E Bryson, Anna M Scipioni, Jamal H Essayli, Johnna R Mahoney, Rollyn M Ornstein
OBJECTIVE: To assess long-term outcomes of patients with avoidant/restrictive food intake disorder (ARFID) treated in a partial hospitalization program (PHP) for eating disorders (ED). METHOD: A cross-sectional study comparing patients with ARFID to those with anorexia nervosa (AN) who had been discharged from a PHP for at least 12 months was performed. Percent median body mass index (%MBMI), scores on the Children's Eating Attitudes Test (ChEAT), and treatment utilization were assessed, with intake and discharge data collected via retrospective chart review...
March 1, 2018: International Journal of Eating Disorders
Aya Mousa, Negar Naderpoor, Helena Teede, Robert Scragg, Barbora de Courten
Background: Vitamin D has been proposed to have anti-inflammatory properties; however, the effect of vitamin D supplementation on inflammation in type 2 diabetes has not been established. Objective: The aim of this systematic review and meta-analysis was to examine the effect of vitamin D supplementation on inflammatory markers in patients with type 2 diabetes and to identify relevant gaps in knowledge. Data sources: MEDLINE, CINAHL, Embase, and EBM Reviews were searched systematically from inception to January 25, 2017...
February 27, 2018: Nutrition Reviews
Haihong Zha, Yuping Cai, Yandong Yin, Zhuozhong Wang, Kang Li, Zheng-Jiang Zhu
The complexity of metabolome presents a great analytical challenge for quantitative metabolite profiling, and restricts the application of metabolomics in biomarker discovery. Targeted metabolomics using multiple-reaction monitoring (MRM) technique has excellent capability for quantitative analysis, but suffers from the limited metabolite coverage. To address this challenge, we developed a new strategy, namely, SWATHtoMRM, which utilizes the broad coverage of SWATH-MS technology to develop high-coverage targeted metabolomics method...
February 27, 2018: Analytical Chemistry
Yingwen Zhao, Guangyuan Fu, Jun Wang, Maozu Guo, Guoxian Yu
Gene Ontology (GO) uses structured vocabularies (or terms) to describe the molecular functions, biological roles, and cellular locations of gene products in a hierarchical ontology. GO annotations associate genes with GO terms and indicate the given gene products carrying out the biological functions described by the relevant terms. However, predicting correct GO annotations for genes from a massive set of GO terms as defined by GO is a difficult challenge. To combat with this challenge, we introduce a Gene Ontology Hierarchy Preserving Hashing (HPHash) based semantic method for gene function prediction...
February 22, 2018: Genomics
Mao Yuan-Chun, Xu Sui, Wang Jie, Zhou Hua-Yun, Cao Jun
OBJECTIVE: To design and develop an online training and evaluation system for parasitic pathogen recognition. METHODS: The system was based on a Parasitic Diseases Specimen Image Digitization Construction Database by using MYSQL 5.0 as the system of database development software, and PHP 5 as the interface development language. It was mainly used for online training and evaluation of parasitic pathology diagnostic techniques. RESULTS: The system interface was designed simple, flexible, and easy to operate for medical staff...
August 8, 2017: Zhongguo Xue Xi Chong Bing Fang Zhi za Zhi, Chinese Journal of Schistosomiasis Control
Henrique S Fernandes, Maria J Ramos, Nuno M F S A Cerqueira
The notable advances obtained by computational (bio)chemistry provided its widespread use in many areas of science, in particular, in the study of reaction mechanisms. These studies involve a huge number of complex calculations, which are often carried out using the Gaussian suite of programs. The preparation of input files and the analysis of the output files are not easy tasks and often involve laborious and complex steps. Taking this into account, we developed molUP: a VMD plugin that offers a complete set of tools that enhance the preparation of QM and ONIOM (QM/MM, QM/QM, and QM/QM/MM) calculations...
February 21, 2018: Journal of Computational Chemistry
L Tripto-Shkolnik, A Jaffe, Y Liel
Background: There is ample evidence associating vitamin D deficiency in primary hyperparathyroidism (PHP) patients with more severe disease manifestations and increased risk of postoperative hypocalcemia. Yet, there is limited data regarding the safety of vitamin D repletion in these patients. Aim: To assess the safety of vitamin D repletion in PHP patients in a real-world setting. Design: We included patients with asymptomatic PHP and few symptomatic patients who declined surgery, followed in our clinic, and treated on a routine basis with 2000 IU/day of vitamin D3...
February 1, 2018: QJM: Monthly Journal of the Association of Physicians
Ourania Nicolatou-Galitis, Cesar Migliorati
The definition, pathobiology and risk factors of ONJ in cancer patients who receive BTAs are discussed in the recent ecancer module for osteonecrosis of the jaw ( ONJ prevention, early diagnosis and management are presented. The critical question of the performance of dental extraction, during BTA therapy, as indicated with the recent studies, is supported. The importance of the collaboration between dental and oncology professionals and the patients is highlighted and can be achieved through appropriate education...
2018: Ecancermedicalscience
Kathleen L Curley, Sachini Kahanda, Katia M Perez, Beth A Malow, Ashley H Shoemaker
BACKGROUND/AIMS: Pseudohypoparathyroidism (PHP) is a rare, genetic disorder. Patients with PHP may have increased prevalence of obstructive sleep apnea (OSA) but this has not been prospectively studied. METHODS: We enrolled children aged 6-18 years with PHP and matched controls. Evaluation included physical examination, medical history, and polysomnography. RESULTS: Fifteen children with PHP type 1A (PHP1A) and 15 controls completed the study...
February 16, 2018: Hormone Research in Pædiatrics
Francesca Marta Elli, Paolo Bordogna, Maura Arosio, Anna Spada, Giovanna Mantovani
Background: Pseudohypoparathyroidism type 1B (PHP1B; MIM#603233) is a rare imprinting disorder (ID), associated with the GNAS locus, characterized by parathyroid hormone (PTH) resistance in the absence of other endocrine or physical abnormalities. Sporadic PHP1B cases, with no known underlying primary genetic lesions, could represent true stochastic errors in early embryonic maintenance of methylation. Previous data confirmed the existence of different degrees of methylation defects associated with PHP1B and suggested the presence of mosaicism, a phenomenon already described in the context of other IDs...
2018: Clinical Epigenetics
Raza-Ur Rahman, Abhivyakti Gautam, Jörn Bethune, Abdul Sattar, Maksims Fiosins, Daniel Sumner Magruder, Vincenzo Capece, Orr Shomroni, Stefan Bonn
BACKGROUND: Small RNA molecules play important roles in many biological processes and their dysregulation or dysfunction can cause disease. The current method of choice for genome-wide sRNA expression profiling is deep sequencing. RESULTS: Here we present Oasis 2, which is a new main release of the Oasis web application for the detection, differential expression, and classification of small RNAs in deep sequencing data. Compared to its predecessor Oasis, Oasis 2 features a novel and speed-optimized sRNA detection module that supports the identification of small RNAs in any organism with higher accuracy...
February 14, 2018: BMC Bioinformatics
Jariya Boonhong, Phitsanu Suntornpiyapan
BACKGROUND: Ultrasound combined with transcutaneous electrical nerve stimulation (UltraTENS) and phonophoresis of piroxicam (PhP) are combined modality therapy that frequently used in musculoskeletal pain including knee osteoarthritis (OA). But it is lack of a good clinical trial to prove and compare their effects. OBJECTIVE: To compare the effects of UltraTENS with PhP on mild to moderate degree of symptomatic knee OA. METHODS: Sixty-one patients (55 women), mean age of 63...
February 2, 2018: Journal of Back and Musculoskeletal Rehabilitation
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