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https://www.readbyqxmd.com/read/28934750/frontotemporal-dementia-caused-by-the-p301l-mutation-in-the-mapt-gene-clinicopathological-features-of-13-cases-from-the-same-geographical-origin-in-barcelona-spain
#1
Sergi Borrego-Écija, Joana Morgado, Leire Palencia-Madrid, Oriol Grau-Rivera, Ramón Reñé, Isabel Hernández, Consuelo Almenar, Mircea Balasa, Anna Antonell, José Luis Molinuevo, Albert Lladó, Marian Martínez de Pancorbo, Ellen Gelpi, Raquel Sánchez-Valle
BACKGROUND/AIMS: We identified and studied 13 patients carrying the P301L mutation in the MAPT gene from the same area (Baix Llobregat County) in Barcelona, Spain. METHODS: The demographic and clinical features were reviewed retrospectively. Detailed neuropathological characterization was obtained in 9 subjects. To investigate the origin of the P301L mutation in these families, 20 single nucleotide polymorphisms (SNPs) in the MAPT gene were analyzed. RESULTS: The mean age at disease onset was 51 years and the mean disease duration was 7 years...
September 22, 2017: Dementia and Geriatric Cognitive Disorders
https://www.readbyqxmd.com/read/28934672/whole-exome-sequencing-identified-a-novel-missense-mutation-in-epm2a-underlying-lafora-disease-in-a-pakistani-family
#2
Zain Aslam, Eungi Lee, Mazhar Badshah, Muhammad Naeem, Changsoo Kang
No abstract text is available yet for this article.
September 1, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28934671/the-hnf1a-mutant-ala180val-clinical-challenges-in-determining-causality-of-a-rare-hnf1a-variant-in-familial-diabetes
#3
J V Sagen, L Bjørkhaug, B I Haukanes, L Grevle, J Molnes, B G Nedrebø, O Søvik, P R Njølstad, S Johansson, A Molven
AIMS: Heterozygous mutations in hepatocyte nuclear factor-1A (HNF1A) cause maturity-onset diabetes of the young type 3 (MODY3). Our aim was to compare two families with suspected dominantly inherited diabetes and a new HNF1A variant of unknown clinical significance. METHODS: The HNF1A gene was sequenced in two independently recruited families from the Norwegian MODY Registry. Both familes were phenotyped clinically and biochemically. Microsatellite markers around and within the HNF1A locus were used for haplotyping...
September 1, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/28934386/expression-of-the-neuropathy-associated-mtmr2-gene-rescues-mtm1-associated-myopathy
#4
Matthieu A Raess, Belinda S Cowling, Dimitri L Bertazzi, Christine Kretz, Bruno Rinaldi, Jean-Marie Xuereb, Pascal Kessler, Norma B Romero, Bernard Payrastre, Sylvie Friant, Jocelyn Laporte
Myotubularins (MTMs) are active or dead phosphoinositides phosphatases defining a large protein family conserved through evolution and implicated in different neuromuscular diseases. Loss-of-function mutations in MTM1 cause the severe congenital myopathy called myotubular myopathy (or X-linked centronuclear myopathy) while mutations in the MTM1-related protein MTMR2 cause a recessive Charcot-Marie-Tooth peripheral neuropathy. Here we aimed to determine the functional specificity and redundancy of MTM1 and MTMR2, and to assess their abilities to compensate for a potential therapeutic strategy...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28934368/a-single-danio-rerio-hars-gene-encodes-both-cytoplasmic-and-mitochondrial-histidyl-trna-synthetases
#5
Ashley L Waldron, Sara Helms Cahan, Christopher S Franklyn, Alicia M Ebert
Histidyl tRNA Synthetase (HARS) is a member of the aminoacyl tRNA synthetase (ARS) family of enzymes. This family of 20 enzymes is responsible for attaching specific amino acids to their cognate tRNA molecules, a critical step in protein synthesis. However, recent work highlighting a growing number of associations between ARS genes and diverse human diseases raises the possibility of new and unexpected functions in this ancient enzyme family. For example, mutations in HARS have been linked to two different neurological disorders, Usher Syndrome Type IIIB and Charcot Marie Tooth peripheral neuropathy...
2017: PloS One
https://www.readbyqxmd.com/read/28934367/exploring-the-salivary-microbiome-of-children-stratified-by-the-oral-hygiene-index
#6
Izumi Mashima, Citra F Theodorea, Boonyanit Thaweboon, Sroisiri Thaweboon, Frank A Scannapieco, Futoshi Nakazawa
Poor oral hygiene often leads to chronic diseases such as periodontitis and dental caries resulting in substantial economic costs and diminished quality of life in not only adults but also in children. In this study, the salivary microbiome was characterized in a group of children stratified by the Simplified Oral Hygiene Index (OHI-S). Illumina MiSeq high-throughput sequencing based on the 16S rRNA was utilized to analyze 90 salivary samples (24 Good, 31 Moderate and 35 Poor oral hygiene) from a cohort of Thai children...
2017: PloS One
https://www.readbyqxmd.com/read/28934318/identification-of-lag3-high-affinity-aptamers-by-ht-selex-and-conserved-motif-accumulation-cma
#7
Mario Martínez Soldevilla, Sandra Hervas, Helena Villanueva, Teresa Lozano, Obdulia Rabal, Julen Oyarzabal, Juan José Lasarte, Maurizio Bendandi, Susana Inoges, Ascensión López-Díaz de Cerio, Fernando Pastor
LAG3 receptor belongs to a family of immune-checkpoints expressed in T lymphocytes and other cells of the immune system. It plays an important role as a rheostat of the immune response. Focus on this receptor as a potential therapeutic target in cancer immunotherapy has been underscored after the success of other immune-checkpoint blockade strategies in clinical trials. LAG3 showcases the interest in the field of autoimmunity as several studies show that LAG3-targeting antibodies can also be used for the treatment of autoimmune diseases...
2017: PloS One
https://www.readbyqxmd.com/read/28934298/transcriptome-analysis-of-callery-pear-pyrus-calleryana-reveals-a-comprehensive-signalling-network-in-response-to-alternaria-alternata
#8
Jialiang Kan, Tingli Liu, Na Ma, Hui Li, Xiaogang Li, Jinyan Wang, Baolong Zhang, Youhong Chang, Jing Lin
The pear is an important temperate fruit worldwide that is produced by a group of species in the genus Pyrus. Callery pear (Pyrus calleryana Decne) is characterized by high resistance to multiple diseases, good adaptability, and high ornamental value, and is therefore widely planted in pear orchards for edible fruit production or as stock. Plant pathogens are a major threat to pear yield. Black spot disease, caused by the filamentous fungus Alternaria alternata, is one of the most serious diseases in pear. Elucidation of resistant genes to black spot disease is extremely important for understanding the underlying mechanisms as well as for the development of resistant cultivars...
2017: PloS One
https://www.readbyqxmd.com/read/28934285/cost-of-illness-of-cholera-to-households-and-health-facilities-in-rural-malawi
#9
Patrick G Ilboudo, Xiao Xian Huang, Bagrey Ngwira, Abel Mwanyungwe, Vittal Mogasale, Martin A Mengel, Philippe Cavailler, Bradford D Gessner, Jean-Bernard Le Gargasson
Cholera remains an important public health problem in many low- and middle-income countries. Vaccination has been recommended as a possible intervention for the prevention and control of cholera. Evidence, especially data on disease burden, cost-of-illness, delivery costs and cost-effectiveness to support a wider use of vaccine is still weak. This study aims at estimating the cost-of-illness of cholera to households and health facilities in Machinga and Zomba Districts, Malawi. A cross-sectional study using retrospectively collected cost data was undertaken in this investigation...
2017: PloS One
https://www.readbyqxmd.com/read/28934183/trends-in-cervical-cancer-screening-in-title-x-funded-health-centers-united-states-2005-2015
#10
Christina I Fowler, Mona Saraiya, Susan B Moskosky, Jacqueline W Miller, Julia Gable, Nancy Mautone-Smith
Cervical cancer screening is critical to early detection and treatment of precancerous cells and cervical cancer. In 2015, 83% of U.S. women reported being screened per current recommendations, which is below the Healthy People 2020 target of 93% (1,2). Disparities in screening persist for women who are younger (aged 21-30 years), have lower income, are less educated, are uninsured, lack a source of health care, or who self-identify as Asian or American Indian/Alaska Native (2). Women who are never screened or rarely screened are more likely to develop cancer and receive a cancer diagnosis at later stages than women who are screened regularly (3)...
September 22, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28934148/tomato-leaf-curl-new-delhi-virus-an-emerging-virus-complex-threatening-vegetable-and-fiber-crops
#11
REVIEW
Enrique Moriones, Shelly Praveen, Supriya Chakraborty
The tomato leaf curl New Delhi virus (ToLCNDV) (genus Begomovirus, family Geminiviridae) represents an important constraint to tomato production, as it causes the most predominant and economically important disease affecting tomato in the Indian sub-continent. However, in recent years, ToLCNDV has been fast extending its host range and spreading to new geographical regions, including the Middle East and the western Mediterranean Basin. Extensive research on the genome structure, protein functions, molecular biology, and plant-virus interactions of ToLCNDV has been conducted in the last decade...
September 21, 2017: Viruses
https://www.readbyqxmd.com/read/28933994/decision-making-for-people-living-with-dementia-by-their-carers-at-the-end-of-life-a-rapid-scoping-review
#12
Sue Barker, Mary Lynch, Jane Hopkinson
BACKGROUND: There are an increasing number of people living with dementia, as well as an expectation that care decisions are made collaboratively with those with the disease entering the end stage and their families. This has increased the burden on family carers. AIM: To explore the evidence on the decisional support needs of informal carers of people with end-stage dementia. DESIGN: A rapid scoping review was undertaken of peer-reviewed publications between 2000 and 2016, which included all health-care settings and the person's own home...
September 2, 2017: International Journal of Palliative Nursing
https://www.readbyqxmd.com/read/28933964/identification-of-novel-spg11-mutations-in-a-cohort-of-chinese-families-with-hereditary-spastic-paraplegia
#13
Juan Du, Ya-Cen Hu, Bei-Sha Tang, Hong Jiang, Lu Shen
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurological diseases. To date, studies about Chinese ARHSP have been small and limited to single case. To fill this gap, we have scanned the whole exons of KIAA1840, ZFYVE26, SPG7 and CYP7B1 genes in a group of 36 unrelated ARHSP families, which is the first study conducted to investigate the mutation frequency of these ARHSP types in China. Finally, SPG11 mutations are found in 33.33% (12/36) of ARHSP patients in our study, and no mutation was identified in SPG15, SPG5 or SPG7 genes...
September 21, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28933701/a-cross-sectional-descriptive-study-of-medication-use-among-persons-with-a-gastrointestinal-stoma
#14
Bianca Augusta Pereira de Paula, Geisa Cristina da Silva Alves, Álvaro PercÍnio, Mariana Linhares Pereira, Juliano Teixeira Moraes, Cristina Sanches
Research on the use of medications in people with intestinal stomas is lacking, creating gaps in knowledge of pharmacoepidemiology in these patients. A cross-sectional, descriptive study was conducted over a period of 4 months in Divinópolis, Brazil to describe the profile of medication use among people enrolled in the Health Support Service for People with Stoma - Level II (SSPS II) of a municipality in the state of Minas Gerais, Brazil. All patients from SSPS II with a colostomy or ileostomy were invited by phone to participate; those with incomplete registration data and/or who were <18 years old, hospitalized for any reason, or had their stoma reversed were excluded from participation...
September 2017: Ostomy/wound Management
https://www.readbyqxmd.com/read/28933636/nicotinic-acid-inhibits-angiogenesis-likely-through-cytoskeleton-remodeling
#15
Lemen Pan, Guanfeng Yu, Xiangjian Chen, Xiaoqiang Li
Angiogenesis is a physiological procedure during which the new blood vessels develop from the pre-existing vessels. Uncontrolled angiogenesis is related to various diseases including cancers. Clinical inhibition of undesired angiogenesis is still under investigation. We utilized nicotinic acid, a family member of the B-vitamin niacin (vitamin B3) that has been used in the prevention and treatment of atherosclerosis or other lipid-metabolic disorders, to treat human umbilical vein endothelial cells (HUVECs) and chick chorioallantoic membrane (CAM), and investigated its influence on angiogenesis in vitro and in vivo...
September 21, 2017: Organogenesis
https://www.readbyqxmd.com/read/28933619/african-american-adults-and-seasonal-influenza-vaccination-changing-our-approach-can-move-the-needle
#16
Sandra Crouse Quinn
Consistent disparities in influenza (flu) vaccine uptake among African Americans, coupled with a disproportionate burden of chronic diseases, places too many African Americans at high risk for complications, hospitalizations and premature mortality. This disparity is the result of individual attitudes and beliefs, social norms, and health care practices. Recent research identifies critical factors affecting vaccine uptake among African American adults including perceived risk of vaccine side effects, social norms that do not support for vaccination, and lower knowledge of the flu and the vaccine...
September 21, 2017: Human Vaccines & Immunotherapeutics
https://www.readbyqxmd.com/read/28933305/epidemiology-of-diabetes-mellitus-in-the-united-arab-emirates
#17
Hira Abdul Razzak, Alya Harbi, Wael Shelpai, Ahmad Qawas
Background/ Objective: Diabetes mellitus is a non-communicable disease which has become a major global public health issue. This systematic review summarized epidemiological studies related to the prevalence, risk factors, complications, incidence, knowledge, attitude and practices of Diabetes Mellitus (DM) among Arab population in the United Arab Emirates (UAE). METHOD: PubMed, Scopus databases, Science direct, Wiley online library, and other local journals were searched to identify relevant literature using appropriate keywords to retrieve studies conducted in the UAE...
September 20, 2017: Current Diabetes Reviews
https://www.readbyqxmd.com/read/28932942/required-hydrophobicity-of-fluorescent-reporters-for-phosphatidylinositol-family-of-lipid-enzymes
#18
Jarod Waybright, Weigang Huang, Angela Proctor, Xiaoyang Wang, Nancy L Allbritton, Qisheng Zhang
The phosphatidylinositol (PtdIns) family of lipids plays important roles in cell differentiation, proliferation, and migration. Abnormal expression, mutation, or regulation of their metabolic enzymes has been associated with various human diseases such as cancer, diabetes, and bipolar disorder. Recently, fluorescent derivatives have increasingly been used as chemical probes to monitor either lipid localization or enzymatic activity. However, the requirements of a good probe have not been well defined, particularly modifications on the diacylglycerol side chain partly due to challenges in generating PtdIns lipids...
September 20, 2017: Analytical and Bioanalytical Chemistry
https://www.readbyqxmd.com/read/28932808/two-sisters-with-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome-and-serous-adenocarcinoma-of-the-ovary
#19
Sarah P Huepenbecker, Laura Divine, Christina S Chu, David G Mutch
BACKGROUND: Mayer-Rokitansky-Küster-Hauser syndrome is a rare entity with proposed genetic underpinnings. Ovarian carcinoma has well-described genetic associations and syndromes, although much of the etiology of the disease remains unknown. CASES: Two sisters present in the 1970s with primary amenorrhea, 46, XX karyotypes, and absent uteri consistent with MRKH syndrome. In the 2010s, both sisters again present for care. Case 1 presents one sister with stage IIIC serous ovarian adenocarcinoma and negative BRCA panel...
November 2017: Gynecologic Oncology Reports
https://www.readbyqxmd.com/read/28932688/alg9-cdg-new-clinical-case-and-review-of-the-literature
#20
Kellie Davis, Duncan Webster, Chris Smith, Sheryl Jackson, David Sinasac, Lorne Seargeant, Xing-Chang Wei, Patrick Ferreira, Julian Midgley, Yolanda Foster, Xueli Li, Miao He, Walla Al-Hertani
Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting from defects in glycan synthesis or processing. The number of subgroups and their phenotypic spectrums continue to expand with most related to deficiencies of N-glycosylation. ALG9-CDG (previously CDG-IL) is the result of a mutation in ALG9. This gene encodes the enzyme alpha-1,2-mannosyltransferase. To date, a total of 10 patients from 6 different families have been reported with one of four ALG9 mutations. Seven of these patients had a similar phenotype with failure to thrive, dysmorphic features, seizures, hepatic and/or renal cysts; the other three patients died in utero from a lethal skeletal dysplasia...
December 2017: Molecular Genetics and Metabolism Reports
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