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https://www.readbyqxmd.com/read/29352562/cbs-mutations-are-good-predictors-for-b6-responsiveness-a-study-based-on-the-analysis-of-35-brazilian-classical-homocystinuria-patients
#1
Soraia Poloni, Fernanda Sperb-Ludwig, Taciane Borsatto, Giovana Weber Hoss, Maria Juliana R Doriqui, Emília K Embiruçu, Ney Boa-Sorte, Charles Marques, Chong A Kim, Carolina Fischinger Moura de Souza, Helio Rocha, Marcia Ribeiro, Carlos E Steiner, Carolina A Moreno, Pricila Bernardi, Eugenia Valadares, Osvaldo Artigalas, Gerson Carvalho, Hector Y C Wanderley, Johanna Kugele, Melanie Walter, Lorena Gallego-Villar, Henk J Blom, Ida Vanessa D Schwartz
BACKGROUND: Classical homocystinuria (HCU) is a monogenic disease caused by the deficient activity of cystathionine β-synthase (CβS). The objective of this study was to identify the CBS mutations in Brazilian patients with HCU. METHODS: gDNA samples were obtained for 35 patients (30 families) with biochemically confirmed diagnosis of HCU. All exons and exon-intron boundaries of CBS gene were sequenced. Gene expression analysis by qRT-PCR was performed in six patients...
January 20, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29352479/contrasting-effects-of-specialist-and-generalist-herbivores-on-resistance-evolution-in-invasive-plants
#2
Zhijie Zhang, Xiaoyun Pan, Dana Blumenthal, Mark van Kleunen, Mu Liu, Bo Li
Invasive alien plants are likely to be released from specialist herbivores and at the same time encounter biotic resistance from resident generalist herbivores in their new ranges. The Shifting Defense Hypothesis predicts that this will result in evolution of decreased defense against specialist herbivores and increased defense against generalist herbivores. To test this, we performed a comprehensive meta-analysis of 61 common garden studies that provide data on resistance and/or tolerance for both introduced and native populations of 32 invasive plant species...
January 20, 2018: Ecology
https://www.readbyqxmd.com/read/29352080/functional-analysis-of-cancer-associated-dna-polymerase-%C3%AE%C2%B5-variants-in-saccharomyces-cerevisiae
#3
Stephanie R Barbari, Daniel P Kane, Elizabeth A Moore, Polina V Shcherbakova
DNA replication fidelity relies on base selectivity of the replicative DNA polymerases, exonucleolytic proofreading, and post-replicative DNA mismatch repair (MMR). Ultramutated human cancers without MMR defects carry alterations in the exonuclease domain of DNA polymerase ε (Polε). They have been hypothesized to result from defective proofreading. However, modeling in yeast of the most common variant, Polε-P286R, produced an unexpectedly strong mutator effect that exceeded the effect of proofreading deficiency by two orders of magnitude and indicated the involvement of other infidelity factors...
January 19, 2018: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29351181/cleft-palate-repair-description-of-an-approach-its-evolution-and-analysis-of-post-operative-fistulas
#4
Raymond W Tse, Babette Siebold
BACKGROUND: Fistulas following cleft palate repair impair speech, health, and hygiene and occur in up to 35% cases. The purpose of this study was to (1) describe the evolution of a surgical approach to cleft palate repair; (2) assess the rates, causes, and predictive factors of fistulas; (3) assess the temporal association of modifications to fistula rates during six years of a single surgeon experience. METHODS: Consecutive patients (N=146) undergoing cleft palate repair were included...
January 12, 2018: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29351126/incidence-and-risk-factors-for-falls-in-women-with-end-stage-hip-osteoarthritis
#5
Hisashi Ikutomo, Koutatsu Nagai, Keiichi Tagomori, Namika Miura, Norikazu Nakagawa, Kensaku Masuhara
BACKGROUND AND PURPOSE: Fall-induced injuries and resulting deaths are a serious health problem among older adults. The most common risk factors for falls in older adults are muscle weakness, gait deficiencies, and balance deficits. Patients with end-stage hip osteoarthritis (OA) also have many hip dysfunctions, and these all have the potential to increase the risk of falls. However, the incidence and risk factors for falls in patients with end-stage hip OA remain unclear. The aim of this study was to determine the incidence of falls in women with end-stage hip OA and to identify risk factors for falls in this patient population...
January 18, 2018: Journal of Geriatric Physical Therapy
https://www.readbyqxmd.com/read/29351075/pathological-and-molecular-studies-of-the-renal-trematode-paratanaisia-bragai-in-indian-peafowls-pavo-cristatus
#6
M Asok Kumar, Deepak Kumar, Munuswamy Palanivelu, Latchumikanthan Annamalai, Karikalan Mathesh, Rajendra Singh, Anil Kumar Sharma, Kuldeep Dhama
Endoparasitic diseases are commonly encountered in free-ranging birds. Although not all endoparasites cause disease, persistent infection with large numbers of parasites almost always affects normal physiological functions, leading to deleterious effects on the host. This paper describes the anatomopathological alterations caused by the renal trematode Paratanaisia bragai in Indian peafowl (n = 3) and examines the phylogeny of these and related parasites. Peafowl from forests in and around the Bareilly region, Uttar Pradesh, India, were necropsied, and microscopic and molecular investigations were performed...
March 26, 2018: Acta Parasitologica
https://www.readbyqxmd.com/read/29350418/species-differences-in-circulation-and-inflammatory-responses-in-children-with-common-respiratory-adenovirus-infections
#7
Haruna Nakamura, Takao Fujisawa, Shigeru Suga, Kiyosu Taniguchi, Mizuho Nagao, Masahiro Ito, Hitoshi Ochiai, Masami Konagaya, Nozomu Hanaoka, Tsuguto Fujimoto
BACKGROUND: Human adenoviruses (HAdVs) cause severe inflammatory respiratory infections, but previous epidemiological studies lacked analysis of the characteristics of the inflammation. METHODS: Consecutive patients <13 years old with acute febrile illness during a 2-year period were tested. HAdV strains were isolated from nasopharyngeal swabs, and molecular identification was performed by hexon, fiber and species-specific PCR methods. Blood inflammatory markers, including the white blood cell (WBC) count, CRP and 29 cytokines, were measured...
January 19, 2018: Journal of Medical Virology
https://www.readbyqxmd.com/read/29350365/characteristics-of-pediatric-and-adult-cases-with-open-globe-injury-and-factors-affecting-visual-outcomes-a-retrospective-analysis-of-294-cases-from-turkey
#8
Işıl Kutlutürk Karagöz, Esin Söğütlü Sarı, Anıl Kubaloğlu, Ahmet Elbay, Ümit Çallı, David P Pinero, Yusuf Özertürk, Titap Yazıcıoğlu
BACKGROUND: This study aimed to evaluate 1-year follow-up results of cases that were diagnosed with open globe injury (OGI), to compare trauma-related characteristics between pediatric and adult cases, and to determine risk factors for a poor final visual acuity. METHODS: This study enrolled 294 cases that met the OGI definition and were followed up for at least 1 year. Demographic and clinical features regarding ocular trauma were recorded. The cases were divided into two groups according to age: pediatric (≤16 years) and adult (>16 years) groups...
January 2018: Ulusal Travma Ve Acil Cerrahi Dergisi, Turkish Journal of Trauma & Emergency Surgery: TJTES
https://www.readbyqxmd.com/read/29350364/a-retrospective-analysis-of-2713-hospitalized-burn-patients-in-a-burns-center-in-turkey
#9
Yavuz Albayrak, Ayetullah Temiz, Ayşe Albayrak, Rıfat Peksöz, Fatih Albayrak, Yusuf Tanrıkulu
BACKGROUND: Burn trauma is a significant health problem that has physical, psychological, and economic repercussions on affected patients. The aim of this study was to present epidemiological and demographic characteristics of patients treated over an 8-year period at a reference burn treatment center located in the northeast of Turkey and serving a population of approximately four million people. METHODS: Each patient's medical record was reviewed, and demographic features, source of burns, place of residence, total body surface area (TBSA), surgical treatment, duration of hospital stay, and mortality rates were analyzed...
January 2018: Ulusal Travma Ve Acil Cerrahi Dergisi, Turkish Journal of Trauma & Emergency Surgery: TJTES
https://www.readbyqxmd.com/read/29349936/preeclampsia-increases-the-incidence-of-postpartum-cerebrovascular-disease-in-korean-population
#10
Yejin Park, Geum Joon Cho, Log Young Kim, Tae Seon Lee, Min Jeong Oh, Young Han Kim
BACKGROUND: Multiple studies have been reported regarding preeclampsia as a possible risk factor of cerebrovascular disease (CVD). However, the correlation of preeclampsia and CVD, whether it is a cause-effect relationship or they are sharing common predisposing condition, is not well understood. Therefore, the aim of this study was to investigate the association between the preeclampsia during pregnancy and development of postpartum CVD. METHODS: A total of 1,384,550 Korean women who had a delivery between January 1, 2010 and December 31, 2012, were enrolled...
February 5, 2018: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/29349911/identification-of-fish-source-vibrio-alginolyticus-and-evaluation-of-its-bacterial-ghosts-vaccine-immune-effects
#11
Ji Cao, Jiajun Zhang, Lin Ma, Lin Li, Wenchang Zhang, Jinnian Li
Vibrio alginolyticus (V. alginolyticus) is a common pathogen for humans and marine aquatic animals. Vibriosis of marine aquatic animals, caused by V. alginolyticus, has become more prevalent globally in recent years. Hence, a safe and effective vaccine is urgently needed for the control of this disease. Here, the strain 16-3 isolated from the large yellow croaker (Larimichthys crocea) suffered from canker was identified as V. alginolyticus based on morphological, biochemical, and 16S rDNA sequencing analysis...
January 19, 2018: MicrobiologyOpen
https://www.readbyqxmd.com/read/29349876/effectiveness-of-a-body-shape-index-absi-in-predicting-chronic-diseases-and-mortality-a-systematic-review-and-meta-analysis
#12
REVIEW
M Ji, S Zhang, R An
Anthropometric measures are simple, inexpensive, noninvasive tools to assess the risk of morbidity and mortality. This systematic review assessed the performance of A Body Shape Index (ABSI) in predicting hypertension, cardiovascular disease, type 2 diabetes and all-cause mortality and compared the differential predictability between ABSI and two other common anthropometric measures - body mass index and waist circumference. A keyword and reference search were conducted in the PubMed and Web of Science for articles published until 1 November 2017...
January 19, 2018: Obesity Reviews: An Official Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29349811/genetic-analysis-of-interleukin-18-gene-polymorphisms-in-alopecia-areata
#13
Sumeyya Deniz Celik, Omer Ates
BACKGROUND: Alopecia areata (AA), which appears as nonscarring hair shedding on any hair-bearing area, is a common organ-specific autoimmune condition. Cytokines have important roles in the development of AA. Interleukin (IL) 18 is a significant proinflammatory cytokine that was found higher in the patients with AA. We aimed to investigate whether the IL-18 (rs187238 and rs1946518) single nucleotide polymorphisms (SNPs) may be associated with AA and/or clinical outcome of patients with AA in Turkish population...
January 18, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29349693/anti-tumor-necrosis-factor-%C3%AE-induced-dermatological-complications-in-a-large-cohort-of-inflammatory-bowel-disease-patients
#14
P Andrade, S Lopes, R Gaspar, A Nunes, S Magina, G Macedo
BACKGROUND/AIMS: The broader use of anti-tumor necrosis factor (TNF) agents in inflammatory bowel disease (IBD) has been associated with a high rate of adverse reactions. Dermatological complications are among the most common adverse events. We assessed the incidence, risk factors, management, and outcome of anti-TNF-induced dermatological complications in a large cohort of IBD patients. METHODS: This was an observational retrospective study at a single tertiary referral center...
January 18, 2018: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/29348854/acid-ceramidase-and-its-inhibitors-a-de-novo-drug-target-and-a-new-class-of-drugs-for-killing-glioblastoma-cancer-stem-cells-with-high-efficiency
#15
Ninh B Doan, Hisham Alhajala, Mona M Al-Gizawiy, Wade M Mueller, Scott D Rand, Jennifer M Connelly, Elizabeth J Cochran, Christopher R Chitambar, Paul Clark, John Kuo, Kathleen M Schmainda, Shama P Mirza
Glioblastoma remains the most common, malignant primary cancer of the central nervous system with a low life expectancy and an overall survival of less than 1.5 years. The treatment options are limited and there is no cure. Moreover, almost all patients develop recurrent tumors, which typically are more aggressive. Therapeutically resistant glioblastoma or glioblastoma stem-like cells (GSCs) are hypothesized to cause this inevitable recurrence. Identifying prognostic biomarkers of glioblastoma will potentially advance knowledge about glioblastoma tumorigenesis and enable discovery of more effective therapies...
December 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29348523/antibiotic-resistance-mutations-induced-in-growing-cells-of-bacillus-related-thermophiles
#16
Hirokazu Suzuki, Tatsunari Taketani, Jyumpei Kobayashi, Takashi Ohshiro
Stress-induced mutagenesis can assist pathogens in generating drug-resistant cells during antibiotic therapy; however, if and how antibiotics induce mutagenesis in microbes remains poorly understood. A non-pathogenic thermophile, Geobacillus kaustophilus HTA426, efficiently produces derivative cells resistant to rifampicin and streptomycin via rpoB and rpsL mutations, respectively. Here, we examined this phenomenon to suggest a novel mutagenic mode induced by antibiotics. Fluctuation analysis indicated that mutations occurred via spontaneous mutations during culture...
January 18, 2018: Journal of Antibiotics
https://www.readbyqxmd.com/read/29348495/preclinical-evaluation-of-antitumor-activity-of-the-proteasome-inhibitor-mln2238-ixazomib-in-hepatocellular-carcinoma-cells
#17
Giuseppa Augello, Martina Modica, Antonina Azzolina, Roberto Puleio, Giovanni Cassata, Maria Rita Emma, Caterina Di Sano, Antonella Cusimano, Giuseppe Montalto, Melchiorre Cervello
Hepatocellular carcinoma (HCC) is one of the common malignancies and is an increasingly important cause of cancer death worldwide. Surgery, chemotherapy, and radiation therapy extend the 5-year survival limit in HCC patients by only 6%. Therefore, there is a need to develop new therapeutic approaches for the treatment of this disease. The orally bioavailable proteasome inhibitor MLN2238 (ixazomib) has been demonstrated to have anticancer activity. In the present study, we investigated the preclinical therapeutic efficacy of MLN2238 in HCC cells through in vitro and in vivo models, and examined its molecular mechanisms of action...
January 18, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29348322/long-term-risk-of-myocardial-infarction-compared-to-recurrent-stroke-after-transient-ischemic-attack-and-ischemic-stroke-systematic-review-and-meta-analysis
#18
REVIEW
Marion Boulanger, Yannick Béjot, Peter M Rothwell, Emmanuel Touzé
BACKGROUND: Uncertainties remain about the current risk of myocardial infarction (MI) after ischemic stroke or transient ischemic attack. METHODS AND RESULTS: We undertook a systematic review to estimate the long-term risk of MI, compared to recurrent stroke, with temporal trends in ischemic stroke/transient ischemic attack patients. Annual risks and 95% confidence intervals (95% CI) of MI and recurrent stroke were estimated using random-effect meta-analyses. We calculated incidence ratios of MI/recurrent stroke, for fatal and nonfatal events, using similar analyses...
January 18, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29347987/determinants-of-long-term-outcome-in-icu-survivors-results-from-the-frog-icu-study
#19
Etienne Gayat, Alain Cariou, Nicolas Deye, Antoine Vieillard-Baron, Samir Jaber, Charles Damoisel, Qin Lu, Xavier Monnet, Isabelle Rennuit, Elie Azoulay, Marc Léone, Heikel Oueslati, Bertrand Guidet, Diane Friedman, Antoine Tesnière, Romain Sonneville, Philippe Montravers, Sébastien Pili-Floury, Jean-Yves Lefrant, Jacques Duranteau, Pierre-François Laterre, Nicolas Brechot, Karine Chevreul, Morgane Michel, Bernard Cholley, Matthieu Legrand, Jean-Marie Launay, Eric Vicaut, Mervyn Singer, Matthieu Resche-Rigon, Alexandre Mebazaa
BACKGROUND: Intensive care unit (ICU) survivors have reduced long-term survival compared to the general population. Identifying parameters at ICU discharge that are associated with poor long-term outcomes may prove useful in targeting an at-risk population. The main objective of the study was to identify clinical and biological determinants of death in the year following ICU discharge. METHODS: FROG-ICU was a prospective, observational, multicenter cohort study of ICU survivors followed 1 year after discharge, including 21 medical, surgical or mixed ICUs in France and Belgium...
January 18, 2018: Critical Care: the Official Journal of the Critical Care Forum
https://www.readbyqxmd.com/read/29347927/prevalence-of-hypertensive-disorders-of-pregnancy-in-ethiopia-a-systemic-review-and-meta-analysis
#20
Abadi Kidanemariam Berhe, Getachew Mullu Kassa, Gedefaw Abeje Fekadu, Achenef Asmamaw Muche
BACKGROUND: Although hypertensive disorders of pregnancy are the leading cause of poor perinatal outcomes in Ethiopia, there is no study that shows the national prevalence. Therefore, the aim of this study was to estimate the national pooled prevalence of hypertensive disorders of pregnancy from studies conducted in different parts of the country. METHODS: Databases; MEDLINE, PubMed, HINARI, EMBASE, Google Scholar and African Journals Online were searched by using different search terms on HDP and Ethiopia...
January 18, 2018: BMC Pregnancy and Childbirth
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