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https://www.readbyqxmd.com/read/28734274/genetic-analysis-of-iranian-patients-with-familial-hypercholesterolemia
#1
Mahdis Ekrami, Maryam Torabi, Soudeh Ghafouri-Fard, Javad Mowla, Bahram Mohammad Soltani, Feyzollah Hashemi-Gorji, Zahra Mohebbi, Mohammad Miryounesi
Background: Familial hypercholesterolemia (FH) is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B 100 (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. In the present study, we aimed at identifying the common LDLR and APOB gene mutations in an Iranian population. Methods: Eighty unrelated Iranian patients with FH entered the study, based on Simon Broome diagnostic criteria...
July 23, 2017: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/28734268/dna-barcoding-allows-identification-of-european-fanniidae-diptera-of-forensic-interest
#2
Andrzej Grzywacz, Dominika Wyborska, Marcin Piwczyński
In forensic entomology practice, species identification is a prerequisite for any further analysis of collected material. Although morphology-based taxonomy may be hindered by a range of factors, these are not obstacles for a molecular identification approach, so-called DNA barcoding. The Fanniidae are a dipteran family that is attracted to and breeds in decomposing animal carrion and dead human bodies. However, morphological identification of fanniids, both at adult and immature stages, is considered to be difficult, particularly for non-experts...
June 29, 2017: Forensic Science International
https://www.readbyqxmd.com/read/28734240/decreased-levels-of-serum-fibroblast-growth-factor-2-in-children-with-autism-spectrum-disorder
#3
Erman Esnafoglu, Sema Nur Ayyıldız
The neurodevelopment and functioning of the central nervous system, and especially the cerebral cortex, have basic importance to understand neuropsychiatric disorders like autism. Fibroblast growth factor-2 (FGF-2) plays a very important role in the development and functioning of the cortex. FGF-2 is related to developmental processes in the central nervous system such as neurogenesis, migration, differentiation and survival. This study researched the serum FGF-2 levels in children with autism spectrum disorder (ASD)...
July 14, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28734192/trajectories-of-risk-behaviors-across-adolescence-and-young-adulthood-the-role-of-race-and-ethnicity
#4
Eunhee Park, Thomas P McCoy, Jennifer Toller Erausquin, Robin Bartlett
INTRODUCTION: Despite important advances of longitudinal research in substance use behaviors, most studies stratify analyses by gender or race, which limits the ability to directly compare the likelihood of a particular developmental pathway across demographic groups. Thus, there is critical need for well-designed research to examine the associations of race/ethnicity with developmental trajectories of substance use behaviors across adolescence through adulthood. METHODS: Using an accelerated longitudinal design, we examined behaviors across ages 12-31 from Waves I-IV of the National Longitudinal Study of Adolescent to Adult Health...
July 15, 2017: Addictive Behaviors
https://www.readbyqxmd.com/read/28734178/subcortical-surface-shape-in-youth-at-familial-high-risk-for-schizophrenia
#5
Kathryn Hill, Nicolas Bolo, Suraj Sarvode Mothi, Paulo Lizano, Synthia Guimond, Neeraj Tandon, Elena Molokotos, Matcheri Keshavan
Abnormalities in the subcortical brain regions that support cognitive functions have been reported in schizophrenia. Relatives of those with schizophrenia often present with psychosis-like traits (schizotypy) and similar cognition as those with schizophrenia. To evaluate the relationships between subcortical structure, schizotypy, and cognitive function, we assessed shape and volume of the hippocampus, amygdala and thalamus in untreated youth at familial high risk for schizophrenia (HRSZ). The sample consisted of 66 HRSZ and 69 age-matched healthy controls (HC)...
July 14, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28734119/a-systematic-review-of-patient-oncofertility-support-needs-in-reproductive-cancer-patients-aged-14-to-45-years-of-age
#6
REVIEW
S Logan, J Perz, J M Ussher, M Peate, A Anazodo
OBJECTIVE: Decline in fertility potential brought about by a cancer diagnosis or cancer treatment is one of the biggest impacts to cancer patients' long term quality of life. As such, the current manuscript aimed to systematically review the literature on oncofertility support needs for cancer patients of a reproductive age (14-45 years of age). METHODS: A systematic review of the literature was conducted in May 2016 through the searching of electronic databases Medline, EMBASE, PSYCH Info, Web of Science and SCOPUS, alongside the screening of relevant reference lists...
July 22, 2017: Psycho-oncology
https://www.readbyqxmd.com/read/28732435/the-effect-of-oral-levamisole-co-administration-on-the-level-of-immune-response-to-hepatitis-b-vaccine-in-healthy-individuals-a-randomized-clinical-trial
#7
Mousalreza Hosseini, Payman Shalchiantabrizi, Maliheh Dadgarmoghaddam, Saeideh Ahmady-Simab, Azizollah Behjati, Masoumeh Salari
Despite its proven efficacy, the hepatitis B vaccine requires improvements in immune enhancement and durability, especially in the elderly. Levamisole, an immune modulator, has been tested as an adjuvant to hepatitis B vaccine in several studies in immune-compromised populations. However, we aimed to evaluate the effect of levamisole on the immune response to hepatitis B vaccine in healthy subjects. In this randomized clinical trial, healthy family members of chronic hepatitis B patients were given twenty-microgram intramuscular injections of hepatitis B vaccine at 0, 1, and 6 months and 50 miligrams of oral  levamisole twice a day for two weeks with every vaccination dose...
June 2017: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/28732433/the-effect-of-salt-space-on-clinical-findings-and-peak-expiratory-flow-in-children-with-mild-to-moderate-asthma-a-randomized-crossover-trial
#8
Saeideh Mazloomzadeh, Niousha Bakhshi, Akefeh Ahmadiafshar, Mehdi Gholami
The asthma treatment and control might be associated with significant burden on family and community' thus exploring other therapeutic plans could be desirable. The aim of this study was to investigate the effect of salt space on clinical findings and peak expiratory flow rate among children with asthma. In this randomized crossover trial, 34 patients aged 6-14 years old with mild to moderate asthma were selected and randomly divided into two groups. The first group went through a period of salt therapy by staying in the salt room for one hour, three times a week for 3 consecutive weeks and then was under observation for three weeks...
June 2017: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/28732431/the-efficacy-of-oral-immunotherapy-in-patients-with-cow-s-milk-allergy
#9
Mohsen Ebrahimi, Mohammad Gharagozlou, Ali Mohebbi, Nasim Hafezi, Gholamreza Azizi, Masoud Movahedi
Cow's milk allergy is the most common type of food allergy that decrease the quality of life of patients and their families. The aim of this study was to evaluate the efficacy of oral immunotherapy in patients with cow's milk allergy. 14 patients above 3 years of age with a history of cow's milk allergy confirmed by positive double blind placebo controlled food challenge (DBPCFC) test, presence of serum IgE against cow's milk and positive SPT (skin prick test) were enrolled in this study. During the immunotherapy all patients received increasing amounts of cow's milk during three phases...
June 2017: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/28732387/the-micrornas-mir-200b-3p-and-mir-429-5p-target-the-limk1-cfl1-pathway-to-inhibit-growth-and-motility-of-breast-cancer-cells
#10
Dengfeng Li, Hong Wang, Hongming Song, Hui Xu, Bingkun Zhao, Chenyang Wu, Jiashu Hu, Tianqi Wu, Dan Xie, Junyong Zhao, Qiang Shen, Lin Fang
Triple-negative breast cancer (TNBC) has the worst prognosis of all subtypes of breast cancer (BC), with limited options for conventional therapy and no targeted therapies. MicroRNAs (miRNAs) are small noncoding RNAs that negatively regulate gene expression. In this study, we aimed to determine whether two members of the miR-200 family, miR-200b-3p and miR-429-5p, are involved in BC cell proliferation and motility and to elucidate their target genes and pathways. We performed a meta-analysis that reveals down-regulated expression of miR-200b-3p and miR-429-5p in BC tissues and cell lines, consistent with a lower expression of miR-200b-3p and miR-429-5p in MDA-MB-231 and HCC1937 cells than in MCF-7 and MCF-10 cells...
July 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/28732380/characteristics-survival-and-risk-factors-of-chinese-young-lung-cancer-patients-the-experience-from-two-institutions
#11
Jianjie Li, Fan Yang, Xiao Li, Min Zhang, Ruozi Fu, Xiaodan Yin, Jun Wang
Limited data is available regarding lung cancer in Chinese young adults. This study was aimed to determine the characteristics, survival, and prognostic factors of young lung cancer patients in China. We reviewed demographic and clinical data, and survival information of 420 young patients (20-45 years old) diagnosed with lung cancer in two Chinese hospitals between 2000 and 2013. The results showed that lung cancer occurred more frequently (70%) and affected more males than females (43.8% vs 26.7%) in patients older than 36; whereas, more females were affected under age 35 (16...
July 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/28732377/thrombospondin-1-is-a-multifaceted-player-in-tumor-progression
#12
REVIEW
Tingting Huang, Li Sun, Xianglin Yuan, Hong Qiu
Thrombospondins are a family of extracellular matrix (ECM) proteins. Thrombospondin-1 (TSP1) was the first member to be identified and is a main player in tumor microenvironment. The diverse functions of TSP1 depend on the interactions between its structural domains and multiple cell surface molecules. TSP1 acts as an angiogenesis inhibitor by stimulating endothelial cell apoptosis, inhibiting endothelial cell migration and proliferation, and regulating vascular endothelial growth factor bioavailability and activity...
July 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28732364/a-novel-heterozygous-germline-deletion-in-msh2-gene-in-a-five-generation-chinese-family-with-lynch-syndrome
#13
Bin Wu, Wuyang Ji, Shengran Liang, Chao Ling, Yan You, Lai Xu, Min-Er Zhong, Yi Xiao, Hui-Zhong Qiu, Jun-Yang Lu, Santasree Banerjee
Lynch syndrome (LS) is one of the most common familial forms of colorectal cancer predisposing syndrome with an autosomal dominant mode of inheritance. LS is caused by the germline mutations in DNA mismatch repair (MMR) genes including MSH2, MLH1, MSH6and PMS2. Clinically, LS is characterized by high incidence of early-onset colorectal cancer as well as endometrial, small intestinal and urinary tract cancers, usually occur in the third to fourth decade of the life. Here we describe a five generation Chinese family with LS clinically diagnosed according to the Amsterdam II criteria...
July 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28732347/histone-demethylase-jmjd2c-epigenetic-regulators-in-tumors
#14
REVIEW
Chengcheng Zhang, Zhongqi Wang, Qing Ji, Qi Li
Histone methylation is one of the major epigenetic modifications, and various histone methylases and demethylases participate in the epigenetic regulating. JMJD2C has been recently identified as one of the histone lysine demethylases. As one member of the Jumonji-C histone demethylase family, JMJD2C has the ability to demethylate tri- or di-methylated histone 3 and 2 in either K9 (lysine residue 9) or K36 (lysine residue 36) sites by an oxidative reaction, thereby affecting heterochromatin formation, genomic imprinting, X-chromosome inactivation, and transcriptional regulation of genes...
July 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/28732325/epidemiology-and-pathophysiology-of-pregnancy-associated-breast-cancer-a-review
#15
REVIEW
Rossana Ruiz, Carmen Herrero, Kathrin Strasser-Weippl, Diego Touya, Jessica St Louis, Alexandra Bukowski, Paul E Goss
The interactions between pregnancy and breast cancer (BC) are complex. Overall, parity is associated with long-term protective effects against BC, however in a small group of susceptible patients, pregnancy can lead to the development of a form of BC with a particularly poor prognosis. Pregnancy-associated breast cancer (PABC) remains an under-studied but important and growing clinical problem worldwide. Several aspects of PABC, including risk factors and mechanisms involved in its occurrence and aggressiveness, are incompletely understood...
July 18, 2017: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/28732259/dravet-syndrome-characteristics-comorbidities-and-caregiver-concerns
#16
Nicole Villas, Mary Anne Meskis, Sue Goodliffe
The Dravet Syndrome Foundation (DSF) conducted the largest in-depth survey of parents and caregivers of patients with Dravet syndrome (DS) to date, in order to (1) identify top concerns among caregivers, (2) establish an approximate frequency of characteristics and comorbidities of DS beyond seizures, and (3) provide direction for clinicians and researchers looking to study the effects of DS on the patient and family unit. Two hundred fifty-six responses were received representing a patient age range of 9months to 32years with a median age group of 7-10years (IQR=8)...
July 18, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28732235/medication-takeovers-covert-druggings-and-behavioral-control-in-alzheimer-s
#17
Brandon Berry, Ester Carolina Apesoa-Varano
Older adults consume the most prescription medication in the U.S. For those who develop Alzheimer's disease, risk of medication misuse increases with the progression of the disease. Family members commonly intervene to lessen risks by taking over the management and administering of a medication regimen. Despite the potential for grave harm around the misuse of powerful drugs, few studies provide insight into the household social context of medication use for this disease. Drawing on 60 in-depth interviews conducted in four waves over 2...
July 6, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28732205/unique-roles-of-the-non-identical-mcm-subunits-in-dna-replication-licensing
#18
REVIEW
Yuanliang Zhai, Ningning Li, Hanlun Jiang, Xuhui Huang, Ning Gao, Bik Kwoon Tye
A family of six homologous subunits, Mcm2, -3, -4, -5, -6, and -7, each with its own unique features, forms the catalytic core of the eukaryotic replicative helicase. The necessity of six similar but non-identical subunits has been a mystery since its initial discovery. Recent cryo-EM structures of the Mcm2-7 (MCM) double hexamer, its precursors, and the origin recognition complex (ORC)-Cdc6-Cdt1-Mcm2-7 (OCCM) intermediate showed that each of these subunits plays a distinct role in orchestrating the assembly of the pre-replication complex (pre-RC) by ORC-Cdc6 and Cdt1...
July 20, 2017: Molecular Cell
https://www.readbyqxmd.com/read/28732196/sam68-offers-selectively-aimed-modulation-of-transcription-in-cancer-stem-cells
#19
Kai Fu, Fengyi Wan
In this issue of Cell Chemical Biology,Benoit et al. (2017) report the selective targeting of cancer stem cells (CSCs) by the ICG-001/CWP family of molecules. Their findings reveal that Sam68 is a transcriptional modulator uniquely required for the dysregulated Wnt/β-catenin signaling in CSCs over healthy stem cells.
July 20, 2017: Cell Chemical Biology
https://www.readbyqxmd.com/read/28732178/reproductive-plasticity-in-the-nematode-gyrinicola-batrachiensis-does-an-intermediate-reproductive-strategy-exist-in-sexually-reproducing-didelphic-pinworms
#20
Jasmine N Childress, Sean C Rogers, Matthew G Bolek, Gabriel J Langford
Phenotypic plasticity is a process in which multiple phenotypes arise from one genotype due to environmental selection pressures. Gyrinicola batrachiensis has a heterogeneous reproductive strategy such that females reproduce either via parthogenesis with thick-shelled eggs in a single uterus or sexual reproduction with thick and thin-shelled eggs in separate uterine horns. No evidence exists that strains of G. batrachiensis are able to switch between parthenogenetic and sexual reproduction. Thin-shelled eggs are autoinfective while thick-shelled eggs act as transmission agents once shed into the aquatic environment...
July 21, 2017: Journal of Parasitology
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