keyword
MENU ▼
Read by QxMD icon Read
search

familial disease

keyword
https://www.readbyqxmd.com/read/28231685/unmet-psychosocial-needs-in-adolescents-with-inflammatory-bowel-disease
#1
(no author information available yet)
BACKGROUND: Inflammatory bowel diseases (IBD) are severe medical conditions with adverse impact on the quality of life of both children and their caregivers. IBD are associated with many limitations in personal and interpersonal functioning, and it also restricts the patients' ability to use the full potential (extent) of their capabilities. With the progress and humanization in society, the issue of patients' needs became an important topic; however, the psychosocial functioning and quality of life of adolescents suffering from IBD and their caregivers have been understudied...
October 24, 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28231630/the-role-of-the-family-in-supporting-the-self-management-of-chronic-conditions-a-qualitative-systematic-review
#2
Whitehead Lisa, Towell Amanda, Abu-Qamar Ma'en, Cole-Heath Amanda
AIMS AND OBJECTIVES: To explore the contribution of family members in promoting and supporting the self-management of chronic conditions among adult family members. BACKGROUND: The prevalence of chronic disease continues to grow globally. The role of the family in chronic condition management and support for self-management has received little attention. DESIGN: A systematic review of qualitative literature using the Joanna Briggs Institute approach for qualitative systematic reviews...
February 23, 2017: Journal of Clinical Nursing
https://www.readbyqxmd.com/read/28231412/impact-of-family-history-of-metabolic-traits-on-severity-of-nash-related-cirrhosis-a-cross-sectional-study
#3
Ajeet Singh Bhadoria, Chandan Kumar Kedarisetty, Chhagan Bihari, Guresh Kumar, Ankur Jindal, Ankit Bhardwaj, Varsha Shasthry, Tanmay Vyas, Jaya Benjamin, Shvetank Sharma, Manoj Kumar Sharma, Shiv Kumar Sarin
BACKGROUND AND AIMS: Familial aggregation of metabolic traits with fatty liver disease is well documented. However, there is scarcity of data regarding such association with non-alcoholic steato-hepatitis (NASH) related cirrhosis. This study was aimed to explore the association of family history of metabolic traits with severity of cirrhosis. METHODS: In a cross-sectional study, all consecutive patients with NASH related cirrhosis presenting to our tertiary care centre were included...
February 23, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/28231309/improving-molecular-diagnosis-of-aniridia-and-wagr-syndrome-using-customized-targeted-array-based-cgh
#4
Fiona Blanco-Kelly, María Palomares, Elena Vallespín, Cristina Villaverde, Rubén Martín-Arenas, Camilo Vélez-Monsalve, Isabel Lorda-Sánchez, Julián Nevado, María José Trujillo-Tiebas, Pablo Lapunzina, Carmen Ayuso, Marta Corton
Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases. First-tier genetic testing for newborn with aniridia, to detect 11p13 rearrangements, includes Multiplex Ligation-dependent Probe Amplification (MLPA) and karyotyping. However, neither of these approaches allow obtaining a complete picture of the high complexity of chromosomal deletions and breakpoints in aniridia. Here, we report the development and validation of a customized targeted array-based comparative genomic hybridization, so called WAGR-array, for comprehensive high-resolution analysis of CNV in the WAGR locus...
2017: PloS One
https://www.readbyqxmd.com/read/28231302/bioinformatic-prediction-of-g-protein-coupled-receptor-encoding-sequences-from-the-transcriptome-of-the-foreleg-including-the-haller-s-organ-of-the-cattle-tick-rhipicephalus-australis
#5
Sergio Munoz, Felix D Guerrero, Anastasia Kellogg, Andrew M Heekin, Ming-Ying Leung
The cattle tick of Australia, Rhipicephalus australis, is a vector for microbial parasites that cause serious bovine diseases. The Haller's organ, located in the tick's forelegs, is crucial for host detection and mating. To facilitate the development of new technologies for better control of this agricultural pest, we aimed to sequence and annotate the transcriptome of the R. australis forelegs and associated tissues, including the Haller's organ. As G protein-coupled receptors (GPCRs) are an important family of eukaryotic proteins studied as pharmaceutical targets in humans, we prioritized the identification and classification of the GPCRs expressed in the foreleg tissues...
2017: PloS One
https://www.readbyqxmd.com/read/28231280/alkbh7-variant-related-to-prostate-cancer-exhibits-altered-substrate-binding
#6
Alice R Walker, Pavel Silvestrov, Tina A Müller, Robert H Podolsky, Gregory Dyson, Robert P Hausinger, Gerardo Andrés Cisneros
The search for prostate cancer biomarkers has received increased attention and several DNA repair related enzymes have been linked to this dysfunction. Here we report a targeted search for single nucleotide polymorphisms (SNPs) and functional impact characterization of human ALKBH family dioxygenases related to prostate cancer. Our results uncovered a SNP of ALKBH7, rs7540, which is associated with prostate cancer disease in a statistically significantly manner in two separate cohorts, and maintained in African American men...
February 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28231257/targeted-sequencing-identifies-a-novel-sh2d1a-pathogenic-variant-in-a-chinese-family-carrier-screening-and-prenatal-genetic-testing
#7
Jun-Yu Zhang, Song-Chang Chen, Yi-Yao Chen, Shu-Yuan Li, Lan-Lan Zhang, Ying-Hua Shen, Chun-Xin Chang, Yu-Qian Xiang, He-Feng Huang, Chen-Ming Xu
X-linked lymphoproliferative disease type 1 (XLP1) is a rare primary immunodeficiency characterized by a clinical triad consisting of severe EBV-induced hemophagocytic lymphohistiocytosis, B-cell lymphoma, and dysgammaglobulinemia. Mutations in SH2D1A gene have been revealed as the cause of XLP1. In this study, a pregnant woman with recurrence history of birthing immunodeficiency was screened for pathogenic variant because the proband sample was unavailable. We aimed to clarify the genetic diagnosis and provide prenatal testing for the family...
2017: PloS One
https://www.readbyqxmd.com/read/28231251/empirical-lessons-regarding-contraception-in-a-protracted-refugee-setting-a-descriptive-study-from-maela-camp-on-the-thai-myanmar-border-1996-2015
#8
Somjet Srikanok, Daniel M Parker, Amber L Parker, Tracey Lee, Aung Myat Min, Pranee Ontuwong, Saw Oo Tan, Supachai Sirinonthachai, Rose McGready
Conflict settings and refugee camps can be chaotic places, with large and rapid population movements, exacerbated public health problems, and ad hoc health services. Reproductive health care that includes family planning is of heightened importance in such settings, however, funding and resources tend to be constrained and geared towards acute health services such as trauma management and infectious disease containment. Here we report on the complexities and challenges of providing family planning in a post-emergency refugee setting, using the example of the largest refugee camp on the Thai-Myanmar border, in existence now for over 30 years...
2017: PloS One
https://www.readbyqxmd.com/read/28231055/the-role-of-extracellular-vesicle-micrornas-in-cancer-biology
#9
Ryou-U Takahashi, Marta Prieto-Vila, Ai Hironaka, Takahiro Ochiya
MicroRNAs (miRNAs) constitute a large family of small, approximately 20-22 nucleotide non-coding RNAs that regulate the expression of target genes, mainly at the post-transcriptional level. Multiple studies report that miRNAs are involved in homeostatic maintenance and that aberrant expression of miRNAs is often observed in various types of diseases, including cancer. In cancer biology, miRNAs exert functional roles in tumor initiation, drug resistance, and metastasis. MiRNAs are also secreted through small vesicles called exosomes, which are endosome-derived vesicles derived from various cell types including immune and tumor cells...
February 23, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28230986/design-synthesis-and-evaluation-of-a-novel-series-of-oxadiazine-gamma-secretase-modulators-for-familial-alzheimer-s-disease
#10
Matthew G Bursavich, Bryce A Harrison, Raksha Acharya, Donald E Costa, Emily A Freeman, Hilliary E Hodgdon, Lori A Hrdlicka, Hong Jin, Sudarshan Kapadnis, Jeffrey S Moffit, Deirdre A Murphy, Scott Nolan, Holger Patzke, Cuyue Tang, Melody Wen, Gerhard Koenig, Jean-François Blain, Duane A Burnett
Herein we describe the design, synthesis and evaluation of a novel series of oxadiazine-based gamma secretase modulators obtained via isosteric amide replacement and critical consideration of conforma-tional restriction. Oxadiazine lead 47 possesses good in vitro potency with excellent predicted CNS drug-like properties and desirable ADME/PK profile. This lead compound demonstrated robust Aβ42 reductions and subsequent Aβ37 increases in both rodent brain and CSF at 30 mg/kg dosed orally.
February 23, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28230968/inhibition-of-%C3%AE-synuclein-fibril-elongation-by-hsp70-is-governed-by-a-kinetic-binding-competition-between-%C3%AE-synuclein-species
#11
Francesco A Aprile, Paolo Arosio, Giuliana Fusco, Serene W Chen, Janet R Kumita, Anne Dhulesia, Paolo Tortora, Tuomas P J Knowles, Michele Vendruscolo, Christopher M Dobson, Nunilo Cremades
The Hsp70 family of chaperones plays an essential role in suppressing protein aggregation in the cell. Here we investigate the factors controlling the intrinsic ability of human Hsp70 to inhibit the elongation of amyloid fibrils formed by the Parkinson's disease-related protein α-synuclein. Using kinetic analysis, we show that Hsp70 binds preferentially to α-synuclein fibrils as a consequence of variations in the association and dissociation rate constants of binding to the different aggregated states of the protein...
February 23, 2017: Biochemistry
https://www.readbyqxmd.com/read/28230865/erbb4-signaling-stimulates-pro-inflammatory-macrophage-apoptosis-and-limits-colonic-inflammation
#12
Michael A Schumacher, Matija Hedl, Clara Abraham, Jessica K Bernard, Patricia R Lozano, Jonathan J Hsieh, Dana Almohazey, Edie B Bucar, Shivesh Punit, Peter J Dempsey, Mark R Frey
Efficient clearance of pro-inflammatory macrophages from tissues after resolution of a challenge is critical to prevent prolonged inflammation. Defects in clearance can contribute to conditions such as inflammatory bowel disease, and thus may be therapeutically targetable. However, the signaling pathways that induce termination of pro-inflammatory macrophages are incompletely defined. We tested whether the ErbB4 receptor tyrosine kinase, previously not known to have role in macrophage biology, is involved in this process...
February 23, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28230092/rtfc-4931414p19rik-regulates-in-vitro-thyroid-differentiation-and-in-vivo-thyroid-function
#13
Yang Yu, Chang Liu, Junxia Zhang, Mimi Zhang, Wei Wen, Xianhui Ruan, Dapeng Li, Shuang Zhang, Ming Gao, Lingyi Chen
Thyroid is a one of the most important endocrine organs. Understanding the molecular mechanism underlying thyroid development and function, as well as thyroid diseases, is beneficial for the clinical treatment of thyroid diseases and tumors. Through genetic linkage analysis and exome sequencing, we previously identified an uncharacterized gene C14orf93 (RTFC, mouse homolog: 4931414P19Rik) as a novel susceptibility gene for familial non-medullary thyroid carcinoma, and demonstrated its function in promoting thyroid tumor...
February 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28229991/a-novel-mutation-in-the-pyrin-domain-of-the-nod-like-receptor-family-pyrin-domain-containing-protein-3-in-muckle-wells-syndrome
#14
Jian Hu, Yun Zhu, Jian-Zhong Zhang, Rong-Guang Zhang, Hou-Min Li
BACKGROUND: Cryopyrin-associated periodic syndrome (CAPS) is a group of rare, heterogeneous autoinflammatory disease characterized by interleukin (IL)-1β-mediated systemic inflammation and clinical symptoms involving skin, joints, central nervous system, and eyes. It encompasses a spectrum of three clinically overlapping autoinflammatory syndromes including familial cold autoinflammatory syndrome, Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease. CAPS is associated with gain-of-function missense mutations in NOD-like receptor family pyrin domain-containing protein 3 (NLRP3), the gene encoding NLRP3...
2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28229934/novel-and-functional-atg12-gene-variants-in-sporadic-parkinson-s-disease
#15
Yuequn Li, Jian Huang, Shuchao Pang, Haihua Wang, Aimei Zhang, Robert G Hawley, Bo Yan
Parkinson's disease (PD) is a common and progressive neurodegenerative disease, including familial and sporadic cases. To date, genetic causes for sporadic PD, majority of PD cases, remain largely unknown. Accumulating evidence indicates that dysfunctional autophagy, a highly conserved cellular process, is involved in the PD pathogenesis. We speculated that changed expression levels of autophagy-related genes (ATG) may contribute to PD development. Previously, we have genetically analyzed ATG5 and ATG7 genes in sporadic PD patients and identified several functional DNA sequence variants (DSVs)...
February 13, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28229927/alteration-of-n-glycan-expression-profile-and-glycan-pattern-of-glycoproteins-in-human-hepatoma-cells-after-hcv-infection
#16
Tian Xiang, Ganglong Yang, Xiaoyu Liu, Yidan Zhou, Zhongxiao Fu, Fangfang Lu, Jianguo Gu, Naoyuki Taniguchi, Zengqi Tan, Xi Chen, Yan Xie, Feng Guan, Xiao-Lian Zhang
BACKGROUND: Hepatitis C virus (HCV) infection causes chronic liver diseases, liver fibrosis and even hepatocellular carcinoma (HCC). However little is known about any information of N-glycan pattern in human liver cell after HCV infection. METHODS: The altered profile of N-glycans in HCV-infected Huh7.5.1 cell were analyzed by using mass spectrometry. Then, lectin microarray, lectin pull-down assay, reverse transcription-quantitative real time PCR (RT-qPCR) and western-blotting were used to identify the altered N-glycosylated proteins and glycosyltransferases...
February 13, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28229824/normal-arterial-stiffness-in-familial-mediterranean-fever-evidence-for-a-possible-cardiovascular-protective-role-of-colchicine
#17
Olga Kukuy, Avi Livneh, Liran Mendel, Ariel Benor, Eitan Giat, Oleg Perski, Olga Feld, Yonatan Kassel, Ilan Ben-Zvi, Merav Lidar, Eliezer J Holtzman, Adi Leiba
OBJECTIVES: Familial Mediterranean fever (FMF) is an autoinflammatory disorder with episodic and persistent inflammation, which is only partially suppressed by continuous colchicine treatment. While chronic inflammation is considered an important cardiovascular risk factor in many inflammatory disorders, its impact in FMF is still disputed. We measured arterial stiffness, a marker of atherosclerotic cardiovascular disease, in a group of FMF patients, in order to evaluate the cardiovascular consequences of inflammation in FMF and the role of colchicine in their development...
February 9, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28229610/coping-with-celiac-disease-how-heavy-is-the-burden-for-caregivers
#18
Francesca Ferretti, Federica Branchi, Bernardo Dell'Osso, Dario Conte, Luca Elli
BACKGROUND: Celiac disease (CD) is the most common chronic enteropathy demanding a lifelong gluten-free diet. OBJECTIVE: The aim of the study was to identify and estimate the subjective burden of caregivers of celiac patients. METHODS: A cross-sectional observational study was conducted during the regional meeting of the Italian Society for the Celiac Disease in April 2014. A written self-administered anonymous questionnaire enquired into caregivers' demographic profile, natural history of patients' disease and caregivers' self-reported degree of burden at the onset of symptoms (T0), at CD diagnosis (T1) and during follow-up (T2)...
February 23, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28229454/analysis-of-a-fully-penetrant-spinocerebellar-ataxia-type-8-brazilian-family
#19
V P Cintra, C M Lourenço, M M V Rocha, P J Tomaselli, W Marques
Spinocerebellar ataxia type 8 (SCA8) is a progressive neurological disorder caused by the expanded repeat CTA/CTG of two overlapping genes, ATXN8OS and ATXN8, expressed bidirectionally. Normal alleles have 15-50 repeats, and pathogenic alleles range from 71 to 1300 repeats. The disorder is relatively rare, accounting for about 2%-5% of the autosomal dominant forms of hereditary ataxia worldwide. However, the prevalence of disease-causing ATXN8OS/ATXN8 expansions is higher than the disease because of the reduced penetrance of the expanded allele...
February 22, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28229379/a-novel-frameshift-mutation-in-the-sterol-27-hydroxylase-gene-in-an-egyptian-family-with-cerebrotendinous-xanthomatosis-without-cataract
#20
Mohamed S Abdel-Hamid, Mahmoud Y Issa, Ghada A Otaify, Maha S Zaki
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by deficiency of the mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. CTX is characterized by tendon xanthomas, juvenile cataracts and multiple progressive neurological symptoms. Here we report on the clinical and molecular findings of a 35-years old Egyptian patient with CTX without cataract. Parents were first cousins with family history of two deceased sibs with mild impaired cognitive functions and epilepsy without appearance of tendon xanthomas...
February 22, 2017: Metabolic Brain Disease
keyword
keyword
70131
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"