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https://www.readbyqxmd.com/read/28211974/whole-exome-sequencing-identified-1-base-pair-novel-deletion-in-bcl2-associated-athanogene-3-bag3-gene-associated-with-severe-dilated-cardiomyopathy-dcm-requiring-heart-transplant-in-multiple-family-members
#1
Muhammad Arshad Rafiq, Ayeshah Chaudhry, Melanie Care, Danna A Spears, Chantal F Morel, Robert M Hamilton
Dilated cardiomyopathy (DCM) is characterized by dilation and impaired contraction of the left ventricle or both ventricles. Among hereditary DCM, the genetic causes are heterogeneous, and include mutations encoding cytoskeletal, nucleoskeletal, mitochondrial, and calcium-handling proteins. We report three severely affected males, in a four-generation pedigree, with DCM phenotype who underwent cardiac transplant. Cardiomegaly with marked biventricular dilation and fibrosis were noticeable histopathological findings...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211648/cognitive-development-in-preterm-infants-multi-faceted-deficits-reflect-vulnerability-of-rigorous-neurodevelopmental-pathways
#2
Jessie R Maxwell, Tracylyn R Yellowhair, Akosua Y Oppong, Jenny E Camacho, Jean R Lowe, Lauren L Jantzie, Robin K Ohls
Prematurity remains the major cause of neonatal morbidity and mortality, with 15 million preterm births occurring worldwide in 2010. Infants born less than 37 weeks gestation are at high risk of abnormal neurodevelopmental outcomes, given that the central nervous system is extremely sensitive to an abnormal intra- and extra-uterine environment. Children born preterm have multiple neurodevelopmental sequelae involving dynamic and complex cognitive deficits. Former preterm infants have difficulty with each domain of cognition, including executive function, language, learning and memory, complex attention, perceptual-motor function and social cognition when compared to children born at term...
February 17, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28211642/biomechanical-strain-exacerbates-inflammation-on-a-progeria-on-a-chip-model
#3
João Ribas, Yu Shrike Zhang, Patrícia R Pitrez, Jeroen Leijten, Mario Miscuglio, Jeroen Rouwkema, Mehmet Remzi Dokmeci, Xavier Nissan, Lino Ferreira, Ali Khademhosseini
Organ-on-a-chip platforms seek to recapitulate the complex microenvironment of human organs using miniaturized microfluidic devices. Besides modeling healthy organs, these devices have been used to model diseases, yielding new insights into pathophysiology. Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disease showing accelerated vascular aging, leading to the death of patients due to cardiovascular diseases. HGPS targets primarily vascular cells, which reside in mechanically active tissues...
February 17, 2017: Small
https://www.readbyqxmd.com/read/28211497/the-inflammatory-cytokine-tnf-%C3%AE-promotes-the-premature-senescence-of-rat-nucleus-pulposus-cells-via-the-pi3k-akt-signaling-pathway
#4
Pei Li, Yibo Gan, Yuan Xu, Lei Song, Liyuan Wang, Bin Ouyang, Chengmin Zhang, Qiang Zhou
Premature senescence of nucleus pulposus (NP) cells and inflammation are two common features of degenerated discs. This study investigated the effects of the inflammatory cytokine TNF-α on the premature senescence of NP cells and the molecular mechanism behind this process. Rat NP cells were cultured with or without different concentrations of TNF-α for 1 and 3 days. The inhibitor LY294002 was used to determine the role of the PI3K/Akt pathway. NP cells that were incubated with TNF-α for 3 days followed by 3 days of recovery in the control medium were used to analyze cellular senescence...
February 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28211317/primary-human-cytomegalovirus-hcmv-infection-in-pregnancy
#5
Horst Buxmann, Klaus Hamprecht, Matthias Meyer-Wittkopf, Klaus Friese
BACKGROUND: In 0.5-4% of pregnancies, the prospective mother sustains a primary infection with human cytomegalovirus (HCMV). An HCMV infection of the fetus in the first or second trimester can cause complex post-encephalitic impairment of the infant brain, leading to motor and mental retardation, cerebral palsy, epilepsy, retinal defects, and progressive hearing loss. METHODS: This review is based on pertinent publications from January 2000 to October 2016 that were retrieved by a selective search in PubMed employing the terms "cytomegalovirus and pregnancy" and "congenital cytomegalovirus...
January 27, 2017: Deutsches Ärzteblatt International
https://www.readbyqxmd.com/read/28211095/tooth-loss-among-the-elders-in-an-inner-city-area-of-ibadan-nigeria
#6
Olushola Ibiyemi, Ejiro Idiga
OBJECTIVE: To determine the prevalence and factors associated with tooth loss among elders in an inner city area of Ibadan, Nigeria. BACKGROUND: Tooth loss is an indication of the oral health of a population, and the possible effects of oral health on general health of the elders has been reported. MATERIAL AND METHODS: A cross-sectional study was undertaken among 392 consenting elders in Idikan, Ibadan, Nigeria. Information on socio-demographic characteristics, causes and effects of tooth loss was obtained using a pretested semistructured questionnaire...
February 16, 2017: Gerodontology
https://www.readbyqxmd.com/read/28211086/variation-of-the-rates-of-necrotising-enterocolitis-in-the-neonatal-networks-in-england
#7
Nicholas T Longford
Necrotising enterocolitis is an oft-fatal disease of the intestinal tract in neonates born prematurely and with low birthweight. We study the variation of its rates across the neonatal networks (groups of hospital-based neonatal care units) in England. We illustrate the problematic nature of hypothesis testing for a key decision, which an analysis is meant to inform, and apply an approach based on decision theory. We emphasise the role of sensitivity analysis in dealing with the ambiguity encountered in the process of eliciting information about the perspective of the client or sponsor for whom the analysis is conducted...
February 17, 2017: Statistics in Medicine
https://www.readbyqxmd.com/read/28210995/checkpoint-inhibitors-for-the-treatment-of-renal-cell-carcinoma
#8
REVIEW
Pooja Ghatalia, Matthew Zibelman, Daniel M Geynisman, Elizabeth R Plimack
The advent of checkpoint inhibitors has revolutionized systemic therapy for many malignancies, including renal cell carcinoma (RCC) where multiple PD-1, PD-L1, and CTLA-4 inhibitors have demonstrated responses and improved survival for patients in clinical trials. Durable benefit with manageable toxicity can be achieved with these agents-but unfortunately for only a minority of individuals. Efforts are ongoing to understand mechanisms driving the response and resistance to checkpoint inhibitors in order to personalize therapy and extend benefit to more patients...
January 2017: Current Treatment Options in Oncology
https://www.readbyqxmd.com/read/28210763/artemisinin-and-its-derivatives-in-cancer-therapy-status-of-progress-mechanism-of-action-and-future-perspectives
#9
REVIEW
Archana Bhaw-Luximon, Dhanjay Jhurry
Since the late 1990s, there has been rapid multiplication of data on the anti-cancer properties of artemisinins. This article reviews the status of progress of artemisinin and its derivatives as anti-cancer agents in clinical trials, case reports, and in vitro/in vivo studies. Particular attention is laid on the combinations of artemisinins and synthetic chemodrugs to enhance the latter's efficacy. An attempt is here made to rationalize the synergistic effects of a few common anti-cancer drugs of the anthracycline, taxane, anti-metabolite, and platinum-based drug families...
February 16, 2017: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/28210714/fetal-cholelithiasis-antenatal-diagnosis-and-neonatal-follow-up-in-a-case-of-twin-pregnancy-a-case-report-and-review-of-the-literature
#10
Yannick Hurni, Francesco Vigo, Begoña Lipp von Wattenwyl, Nicole Ochsenbein, Claudia Canonica
Fetal cholelithiasis is a rare finding during a third-trimester ultrasound with an average incidence rate of 0.07-1.15%. We report a case of fetal cholelithiasis in twins, observed in a patient with monochorionic diamniotic twin pregnancy hospitalized at our unit for signs of premature labor. We present the outcome of the 2 neonates with a clinical and sonographic follow-up. In addition, we offer a comprehensive review of the literature available to date.
February 2017: Ultrasound International Open
https://www.readbyqxmd.com/read/28210519/achondroplasia-in-the-premature-infant-an-elusive-diagnosis-in-the-neonatal-intensive-care-unit
#11
Kimberly E Fagen, Anna R Blask, Eva I Rubio, Dorothy I Bulas
Achondroplasia is a difficult prenatal diagnosis to make before the late second and third trimester. We describe two cases where an infant was born prematurely with no overt signs of achondroplasia. Despite multiple chest and abdominal radiographs during the neonatal course, the diagnosis was not made until term equivalent age was reached. We retrospectively reviewed these two cases to highlight the elusive findings of achondroplasia in the premature infant.
January 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/28210479/pregnant-after-assisted-reproduction-a-risk-pregnancy-is-born-18-years-perinatal-outcome-results-from-a-population-based-registry-in-flanders-belgium
#12
W Ombelet, G Martens, L Bruckers
BACKGROUND: Although the increased risk for perinatal morbidity and mortality of babies born after ART is largely attributed to a higher rate of multiple gestations, a significantly worse perinatal outcome for singleton pregnancies following ART compared to pregnancies after natural conception has been reported as well. Most studies only include IVF/ICSI pregnancies; studies describing the perinatal outcome of pregnancies after non-IVF assisted reproduction are scarce. METHODS AND MATERIALS: Population-based cohort study with three exposure groups: a study group of pregnancies (1) after ovarian stimulation (OS), with or without artificial insemination (AI), (2) after IFV or ICSI and (3) a naturally conceived (NC) comparison group...
December 2016: Facts, Views & Vision in ObGyn
https://www.readbyqxmd.com/read/28210452/ewing-sarcoma-of-the-oral-cavity-a-review
#13
REVIEW
Maria Margaix-Muñoz, José Bagán, Rafael Poveda-Roda
OBJECTIVES: A review is made of the clinical, diagnostic, therapeutic and survival characteristics of Ewing sarcoma (ES) of the oral cavity. MATERIAL AND METHODS: A systematic literature search was carried out, with restrictions referred to time (1960-2014), language (English and Spanish) and type of study (case reports, letters, datasets, reviews). The following MeSH terms and boolean operators were used: Ewing AND Sarcoma AND [tongue, jaw, maxilla, cheek, condyle OR temporomandibular, floor AND mouth, gum OR gingiva, palate OR palatal, lip, uvula, head AND neck]...
February 2017: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/28210295/global-impact-of-bronchiectasis-and-cystic-fibrosis
#14
REVIEW
Margarida Redondo, Holly Keyt, Raja Dhar, James D Chalmers
EDUCATIONAL AIMS: To recognise the clinical and radiological presentation of the spectrum of diseases associated with bronchiectasis.To understand variation in the aetiology, microbiology and burden of bronchiectasis and cystic fibrosis across different global healthcare systems. : Bronchiectasis is the term used to refer to dilatation of the bronchi that is usually permanent and is associated with a clinical syndrome of cough, sputum production and recurrent respiratory infections...
September 2016: Breathe
https://www.readbyqxmd.com/read/28210175/association-between-vegf-polymorphisms-460-t-c-and-936-c-t-and-retinopathy-of-prematurity-risk-a-meta-analysis
#15
Swati Shukla, Manzoor Ahmad Malik, Parijat Chandra, Jasbir Kaur
PURPOSE: Vascular endothelial growth factor (VEGF) contributes to the development of retinopathy of prematurity (ROP). A number of studies investigated the association of ROP with VEGF -460 T/C and +936 C/T polymorphisms but the results were conflicting. In order to derive a more precise estimation of the associations, we performed a meta-analysis of the relationship between VEGF -460 T/C and +936 C/T polymorphisms with ROP in all published studies. METHODS: A literature search was performed systematically using electronic databases...
July 2016: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
https://www.readbyqxmd.com/read/28210010/evaluation-and-treatment-of-anemia-in-premature-infants
#16
Edo Hasanbegovic, Nermana Cengic, Snijezana Hasanbegovic, Jasmina Heljic, Ismail Lutolli, Edin Begic
INTRODUCTION: Anemia in preterm infants is the pathophysiological process with greater and more rapid decline in hemoglobin compared to the physiological anemia in infants. There is a need for transfusions and administration of human recombinant erythropoietin. AIM: To determine the frequency of anemia in premature infants at the Pediatric Clinic, University Clinical Center Sarajevo, as well as parameter values in the blood count of premature infants and to explore a relationship between blood transfusions with the advent of intraventricular hemorrhage (determine treatment outcome in preterm infants)...
December 2016: Medical Archives
https://www.readbyqxmd.com/read/28209998/cervical-pessary-for-prevention-of-preterm-birth-a-meta-analysis
#17
Xin-Hang Jin, Dan Li, Li-Li Huang
To investigate the efficacy of cervical pessary placement in preventing preterm birth and perinatal morbidity and mortality in asymptomatic women with a singleton pregnancy and a short cervix, we searched literature in relevant databases. The meta-analysis of the 3 included trials (1412 women) showed cervical pessary placement did not reduce the risk of spontaneous preterm birth <34 weeks in these women (risk ratio (RR), 0.71; 95% confidence interval (CI), 0.21-2.43, P = 0.59; I(2) = 90%). The sensitivity analyses by excluding one trial at one time showed the same results...
February 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28209927/improved-health-span-and-lifespan-in-mtdna-mutator-mice-treated-with-the-mitochondrially-targeted-antioxidant-skq1
#18
Irina G Shabalina, Mikhail Yu Vyssokikh, Natalia Gibanova, Robert I Csikasz, Daniel Edgar, Anne Hallden-Waldemarson, Zinaida Rozhdestvenskaya, Lora E Bakeeva, Valeria B Vays, Antonina V Pustovidko, Maxim V Skulachev, Barbara Cannon, Vladimir P Skulachev, Jan Nedergaard
MtDNA mutator mice exhibit marked features of premature aging. We find that these mice treated from age of ≈100 days with the mitochondria-targeted antioxidant SkQ1 showed a delayed appearance of traits of aging such as kyphosis, alopecia, lowering of body temperature, body weight loss, as well as ameliorated heart, kidney and liver pathologies. These effects of SkQ1 are suggested to be related to an alleviation of the effects of an enhanced reactive oxygen species (ROS) level in mtDNA mutator mice: the increased mitochondrial ROS released due to mitochondrial mutations probably interact with polyunsaturated fatty acids in cardiolipin, releasing malondialdehyde and 4-hydroxynonenal that form protein adducts and thus diminishes mitochondrial functions...
February 15, 2017: Aging
https://www.readbyqxmd.com/read/28209504/myopic-surface-ablation-in-asymmetrical-topographies-refractive-results-and-theoretical-corneal-elastic-response
#19
Luis F Brenner, Antonio Renna, Anna Pandolfi, Francisco C Martínez, Jorge L Alió
PURPOSE: To evaluate refractive results and the theoretical elastic response of photorefractive keratectomy in eyes with asymmetrical corneal surface and to compare such outcomes with a control-matched group of normal topographies. DESIGN: Retrospective interventional case series with matched comparison group. METHODS: 30 eyes with superior-inferior dioptric difference (SI index) > 1.40 D, were compared to 30 eyes with normal topographies...
February 13, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28209491/the-preterm-cervix-reveals-a-transcriptomic-signature-in-the-presence-of-premature-pre-labor-rupture-of-membranes
#20
Sofia Makieva, Aurelija Dubicke, Sara F Rinaldi, Emma Fransson, Gunvor Ekman-Ordeberg, Jane E Norman
BACKGROUND: Premature Pre-labor Rupture of Fetal Membranes (PPROM) accounts for 30% of all premature births and is associated with detrimental long-term infant outcomes. Premature cervical remodeling, facilitated by matrix metalloproteinases (MMPs), may trigger rupture at the zone of the fetal membranes overlying the cervix. The similarities and differences underlying cervical remodeling in PPROM and spontaneous preterm labor with intact membranes (PTL) are unexplored. OBJECTIVES: We aimed a) to perform the first transcriptomic assessment of the preterm human cervix to identify differences between PPROM and PTL and b) to compare the enzymatic activities of MMP-2 and 9 between PPROM and PTL...
February 13, 2017: American Journal of Obstetrics and Gynecology
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