keyword
MENU ▼
Read by QxMD icon Read
search

Familial searching

keyword
https://www.readbyqxmd.com/read/28330163/probing-an-optimal-class-distribution-for-enhancing-prediction-and-feature-characterization-of-plant-virus-encoded-rna-silencing-suppressors
#1
Abhigyan Nath, Karthikeyan Subbiah
To counter the host RNA silencing defense mechanism, many plant viruses encode RNA silencing suppressor proteins. These groups of proteins share very low sequence and structural similarities among them, which consequently hamper their annotation using sequence similarity-based search methods. Alternatively the machine learning-based methods can become a suitable choice, but the optimal performance through machine learning-based methods is being affected by various factors such as class imbalance, incomplete learning, selection of inappropriate features, etc...
June 2016: 3 Biotech
https://www.readbyqxmd.com/read/28330074/catalytic-properties-functional-attributes-and-industrial-applications-of-%C3%AE-glucosidases
#2
Gopal Singh, A K Verma, Vinod Kumar
β-Glucosidases are diverse group of enzymes with great functional importance to biological systems. These are grouped in multiple glycoside hydrolase families based on their catalytic and sequence characteristics. Most studies carried out on β-glucosidases are focused on their industrial applications rather than their endogenous function in the target organisms. β-Glucosidases performed many functions in bacteria as they are components of large complexes called cellulosomes and are responsible for the hydrolysis of short chain oligosaccharides and cellobiose...
June 2016: 3 Biotech
https://www.readbyqxmd.com/read/28328392/the-effect-of-internet-group-support-for-caregivers-on-social-support-self-efficacy-and-caregiver-burden-a-meta-analysis
#3
Debbie Parker Oliver, Sonal Patil, Jacquelyn J Benson, Ashley Gage, Karla Washington, Robin L Kruse, George Demiris
INTRODUCTION: Family caregivers are socially isolated and burdened as they care for their loved one, often for many years. Internet support groups can address some of the barriers related to the social isolation, self-efficacy, and burden experienced during caregiving by connecting individuals with similar problems to one another. The purpose of the meta-analysis was to analyze the effect of Internet-based group support interventions on social support, self-efficacy, and burden. METHODS: A two-step search process was used to identify peer reviewed evidence to answer the research question...
February 28, 2017: Telemedicine Journal and E-health: the Official Journal of the American Telemedicine Association
https://www.readbyqxmd.com/read/28328130/targeted-molecular-investigation-in-patients-within-the-clinical-spectrum-of-auriculocondylar-syndrome
#4
Vanessa L Romanelli Tavares, Roseli M Zechi-Ceide, Debora R Bertola, Christopher T Gordon, Simone G Ferreira, Gabriella S P Hsia, Guilherme L Yamamoto, Suzana A M Ezquina, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Renato S Freitas, Josiane Souza, Cesar A Raposo-Amaral, Mayana Zatz, Jeanne Amiel, Maria L Guion-Almeida, Maria Rita Passos-Bueno
Auriculocondylar syndrome, mainly characterized by micrognathia, small mandibular condyle, and question mark ears, is a rare disease segregating in an autosomal dominant pattern in the majority of the families reported in the literature. So far, pathogenic variants in PLCB4, GNAI3, and EDN1 have been associated with this syndrome. It is caused by a developmental abnormality of the first and second pharyngeal arches and it is associated with great inter- and intra-familial clinical variability, with some patients not presenting the typical phenotype of the syndrome...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28327575/analysis-of-exome-data-for-4293-trios-suggests-gpi-anchor-biogenesis-defects-are-a-rare-cause-of-developmental-disorders
#5
Alistair T Pagnamenta, Yoshiko Murakami, John M Taylor, Consuelo Anzilotti, Malcolm F Howard, Venessa Miller, Diana S Johnson, Shereen Tadros, Sahar Mansour, I Karen Temple, Rachel Firth, Elisabeth Rosser, Rachel E Harrison, Bronwen Kerr, Niko Popitsch, Taroh Kinoshita, Jenny C Taylor, Usha Kini
Over 150 different proteins attach to the plasma membrane using glycosylphosphatidylinositol (GPI) anchors. Mutations in 18 genes that encode components of GPI-anchor biogenesis result in a phenotypic spectrum that includes learning disability, epilepsy, microcephaly, congenital malformations and mild dysmorphic features. To determine the incidence of GPI-anchor defects, we analysed the exome data from 4293 parent-child trios recruited to the Deciphering Developmental Disorders (DDD) study. All probands recruited had a neurodevelopmental disorder...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28326741/the-impact-of-childhood-adversities-on-anxiety-and-depressive-disorders-in-adulthood
#6
(no author information available yet)
OBJECTIVES: The childhood adversities model is generally accepted as a predictor of adult psychopathology vulnerability. It stems from child development theories, but the question remains as of how well solid research supports it. The aim of this article is to give a review of the studies concerning childhood adversities and their impact on the development of anxiety disorders and major depressive disorder in adulthood. METHOD: A computerized search of the MEDLINE database of publications up to 31 March 2016 was done, using the keywords "childhood adversities, abuse, maltreatment, bullying" and "anxiety disorders, depressive disorder"...
December 22, 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28326182/birt-hogg-dub%C3%A3-syndrome-a-case-report-and-a-review-of-the-literature
#7
REVIEW
Dea Kejlberg Jensen, Anders Villumsen, Anne-Bine Skytte, Mia Gebauer Madsen, Mette Sommerlund, Elisabeth Bendstrup
Background: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant inherited syndrome caused by mutations in the folliculin coding gene (FLCN). The clinical manifestations of the syndrome involve the skin, lungs, and kidneys. Because of the rarity of the syndrome, guidelines for diagnosis and management of the patients with BHDS are lacking. Objective: To present a case story and a review of the literature on BHDS in order to give an update on genetics, clinical manifestations, diagnosis, treatment, prognosis and follow-up strategies...
2017: European Clinical Respiratory Journal
https://www.readbyqxmd.com/read/28325066/comprehensive-analysis-to-explain-reduced-or-increased-sod1-enzymatic-activity-in-als-patients-and-their-relatives
#8
Isil Keskin, Anna Birve, Mariusz Berdynski, Karin Hjertkvist, Reza Rofougaran, Torbjörn K Nilsson, Jonathan D Glass, Stefan L Marklund, Peter M Andersen
OBJECTIVE: To characterise stabilities in erythrocytes of mutant SOD1 proteins, compare SOD1 enzymatic activities between patients with different genetic causes of ALS and search for underlying causes of deviant SOD1 activities in individuals lacking SOD1 mutations. METHODS: Blood samples from 4072 individuals, ALS patients with or without a SOD1 mutation, family members and controls were studied. Erythrocyte SOD1 enzymatic activities normalised to haemoglobin content were determined, and effects of haemoglobin disorders on dismutation assessed...
March 21, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28324810/the-emotional-process-from-diagnosis-to-birth-following-a-prenatal-diagnosis-of-fetal-anomaly-a-qualitative-study-of-messages-in-online-discussion-boards
#9
Tommy Carlsson, Veronica Starke, Elisabet Mattsson
OBJECTIVE: to explore written statements found in online discussion boards where parents currently expecting, or with previous experience of expecting, a child with a prenatally diagnosed congenital anomaly communicate about their emotional process from diagnosis to birth. DESIGN: cross-sectional qualitative study of messages in public online discussion boards. SETTING: Swedish public discussion boards about reproductive subjects. SAMPLE: ten pregnant women and eight parents (of children with prenatal diagnoses) who had written 852 messages in five threads in Swedish online discussion boards identified via systematic searches...
March 2, 2017: Midwifery
https://www.readbyqxmd.com/read/28324300/%C3%AE-synuclein-and-parkinsonism-updates-and-future-perspectives
#10
REVIEW
Kaie Rosborough, Neha Patel, Lorraine V Kalia
Mutations in the SNCA gene, which encodes the α-synuclein protein, were the first discovered genetic causes of familial parkinsonism with Lewy pathology. To date, six different SNCA missense mutations as well as multiplications are known to cause parkinsonism. For this review, we performed a literature search to identify all published cases of SNCA-related parkinsonism to provide an updated summary of the clinical and neuropathological features of parkinsonism due to SNCA mutations. Familial parkinsonism associated with SNCA is rare, but α-synuclein aggregation is a core feature of sporadic parkinsonism, including Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy...
April 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28323631/search-for-unconventional-superconductors-among-the-y-i-te-i-sub-2-sub-si-sub-2-sub-compounds-i-te-i-cr-co-ni-rh-pd-pt
#11
Adam P Pikul, Malgorzata Samsel-Czekala, Grzegorz Chajewski, Tetiana Romanova, Alicja Hackemer, Roman Gorzelniak, Piotr Wiśniewski, Dariusz Kaczorowski
Motivated by the recent discovery of exotic superconductivity in YFe<sub>2</sub>Ge<sub>2</sub> we undertook reinvestigation of formation and physical properties of yttrium-based 1:2:2 silicides. Here we report on syntheses and crystal structures of the Y<i>TE</i><sub>2</sub>Si<sub>2</sub> compounds with <i>TE</i> = Cr, Co, Ni, Rh, Pd, and Pt, and their low-temperature physical properties measurements, supplemented by results of fully relativistic FPLO band structure calculations...
March 21, 2017: Journal of Physics. Condensed Matter: An Institute of Physics Journal
https://www.readbyqxmd.com/read/28321402/prognostic-role-of-the-microrna-200-family-in-various-carcinomas-a-systematic-review-and-meta-analysis
#12
REVIEW
Jung Soo Lee, Young-Ho Ahn, Hye Sung Won, Der Sheng Sun, Yeo Hyung Kim, Yoon Ho Ko
Background/Aims. The miRNA-200 (miR-200) family may act as key inhibitors of epithelial-to-mesenchymal transition. However, the potential prognostic value of miR-200s in various human malignancies remains controversial. This meta-analysis analyzed the associations between miR-200 levels and survival outcomes in a variety of tumors. Methods. Eligible published studies were identified by searching the Embase, PubMed, CINAHL, and Google scholar databases. Patient clinical data were pooled, and pooled hazard ratios (HRs) with 95% confidence intervals (95% CI) were used to calculate the strength of this association...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28320408/factors-of-physical-activity-among-chinese-children-and-adolescents-a-systematic-review
#13
REVIEW
Congchao Lu, Ronald P Stolk, Pieter J J Sauer, Anna Sijtsma, Rikstje Wiersma, Guowei Huang, Eva Corpeleijn
BACKGROUND: Lack of physical activity is a growing problem in China, due to the fast economic development and changing living environment over the past two decades. The aim of this review is to summarize the factors related to physical activity in Chinese children and adolescents during this distinct period of development. METHODS: A systematic search was finished on Jan 10(th), 2017, and identified 2200 hits through PubMed and Web of Science. English-language published studies were included if they reported statistical associations between factors and physical activity...
March 21, 2017: International Journal of Behavioral Nutrition and Physical Activity
https://www.readbyqxmd.com/read/28320378/the-role-of-consumer-perspectives-in-estimating-population-need-for-substance-use-services-a-scoping-review
#14
Elaine Hyshka, Kamagaju Karekezi, Benjamin Tan, Linda G Slater, Jesse Jahrig, T Cameron Wild
BACKGROUND: A growing body of research assesses population need for substance use services. However, the extent to which survey research incorporates expert versus consumer perspectives on service need is unknown. We conducted a large, international review to (1) describe extant research on population need for substance use services, and the extent to which it incorporates expert and consumer perspectives on service need, (2) critically assess methodological and measurement approaches used to study consumer-defined need, and (3) examine the potential for existing research that prioritizes consumer perspectives to inform substance use service system planning...
March 20, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/28320309/correlated-duplications-and-losses-in-the-evolution-of-palmitoylation-writer-and-eraser-families
#15
Stijn Wittouck, Vera van Noort
BACKGROUND: Protein post-translational modifications (PTMs) change protein properties. Each PTM type is associated with domain families that apply the modification (writers), remove the modification (erasers) and bind to the modified sites (readers) together called toolkit domains. The evolutionary origin and diversification remains largely understudied, except for tyrosine phosphorylation. Protein palmitoylation entails the addition of a palmitoyl fatty acid to a cysteine residue. This PTM functions as a membrane anchor and is involved in a range of cellular processes...
March 20, 2017: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/28318419/preparing-youth-with-cancer-for-amputation-a-systematic-review
#16
Caitlyn A Loucas, Sarah R Brand, Sima Zadeh Bedoya, Anna C Muriel, Lori Wiener
Children and adolescents who require limb amputation as part of cancer treatment face many physical and emotional challenges. Preparatory interventions may serve to facilitate positive coping and improve long-term adjustment during pediatric cancer treatment, including decreasing anxiety and post-operative distress. This review aimed to examine and identify the type and degree of psychosocial preparation provided to the child with cancer and family prior to amputation. Electronic databases including Embase, PubMed, and PsycINFO were searched for relevant research articles...
March 20, 2017: Journal of Psychosocial Oncology
https://www.readbyqxmd.com/read/28316956/sudden-infant-death-syndrome-due-to-long-qt-syndrome-a-brief-review-of-the-genetic-substrate-and-prevalence
#17
REVIEW
Nikolaos S Ioakeimidis, Theodora Papamitsou, Soultana Meditskou, Zafiroula Iakovidou-Kritsi
The pathophysiological mechanisms which lead to sudden infant death syndrome (SIDS) are not completely understood. Cardiac channelopathies are a well-established causative factor with long QT syndrome (LQTS) being the most frequent one, accounting for approximately 12% of SIDS cases. The genetic substrate of the above arrhythmogenic syndrome has been thoroughly described but only specific gene mutations or polymorphisms have been identified as SIDS causative. The review will focus on the prevalence of LQTS-induced SIDS or near-SIDS cases and the mutations held responsible...
December 2017: Journal of Biological Research
https://www.readbyqxmd.com/read/28316284/facial-cutaneo-mucosal-venous-malformations-can-develop-independently-of-mutation-of-tek-gene-%C3%AF-but-may-be-associated-with-excessive-expression-of-src-and-p-src
#18
Nabila Brahami, Selvakumar Subramaniam, Moudjahed Saleh Al-Ddafari, Cecile Elkaim, Pierre-Olivier Harmand, Badr-Eddine Sari, Gérard Lefranc, Mourad Aribi
We aimed to search for mutations in the germline and somatic DNA of the TEK gene and to analyze the expression level of Src and phospho-Src (p-Src) in tumor and healthy tissues from patients with facial cutaneo-mucosal venous malformations (VMCM). Eligible patients from twelve families and thirty healthy controls were recruited respectively at the Departments of Stomatology and Oral Surgery, and Transfusion Medicine of Tlemcen University Medical Centre. Immunoblot analyses of Src and p-Src were performed after direct DNA sequencing...
March 20, 2017: Journal of Negative Results in Biomedicine
https://www.readbyqxmd.com/read/28315631/network-analysis-of-urocortins
#19
(no author information available yet)
OBJECTIVES: Urocortins (Ucns), members of corticotropin releasing factor family, play critical roles in a number of pathological and physiological conditions. Many proteins have been reported to participate in Ucns signaling pathways, which formed complex interaction networks. METHODS: STITCH ('search tool for interactions of chemicals') is an interaction network database that provides exploration of the known and predicted interactions among large sets of chemicals and proteins...
November 19, 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28315542/biosimilars-considerations-for-oncology-nurses%C3%A2
#20
Vida Vizgirda, Ira Jacobs
BACKGROUND: Biosimilars are developed to be highly similar to and treat the same conditions as licensed biologics. As they are approved and their use becomes more widespread, oncology nurses should be aware of their development and unique considerations. OBJECTIVES: This article reviews properties of biosimilars; their regulation and approval process; the ways in which their quality, safety, and efficacy are evaluated; their postmarketing safety monitoring; and their significance to oncology nurses and oncology nursing...
April 1, 2017: Clinical Journal of Oncology Nursing
keyword
keyword
52645
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"