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https://www.readbyqxmd.com/read/28064285/unusual-duplication-in-the-pericentromeric-region-of-chromosome-9-in-a-patient-with-phenotypic-alterations
#1
Andréa C M Malinverni, Mileny E Colovati, Ana B A Perez, Thamy P Caneloi, Hélio R Oliveira, Nadezda Kosyakova, Thomas Liehr, Ahmed B Hamid, Maria I Melaragno
Several alterations involving the pericentromeric region of chromosome 9 are considered as normal population variants. These heterochromatic variants or heteromorphisms can include 9qh+, 9cen+, 9ph+, 9ph-, inv(9)(p11q13), and other patterns which can only be defined by FISH studies. However, some heteromorphisms have been found more frequently in patients with several clinical disorders. Here, we report on a patient with intellectual disability, language and neurodevelopmental delay, as well as facial dysmorphism and an unusual chromosome 9...
January 7, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28064241/associations-between-racial-discrimination-smoking-during-pregnancy-and-low-birthweight-among-roma
#2
Teresa Janevic, Theresa Osypuk, Kristefer Stojanovski, Janko Jankovic, Daniel Gundersen, Maggie Rogers
BACKGROUND: Racial discrimination may increase the risk of low birthweight (LBW), but has not been studied among Roma, the largest minority population in Europe. Moreover, few studies test both institutional and interpersonal forms of racial discrimination on health. Our objective was to examine associations between institutional and interpersonal racial discrimination with LBW, and to test potential mediation by smoking during pregnancy. METHODS: In 2012-2013, Romani women interviewers surveyed 410 Romani women in Serbia and Macedonia...
January 7, 2017: European Journal of Public Health
https://www.readbyqxmd.com/read/28052269/observational-study-of-switching-from-natalizumab-to-immunomodulatory-drugs
#3
Ramón Villaverde-González, Julia Gracia Gil, Angel Pérez Sempere, Jorge Millán Pascual, José Marín Marín, María Carcelén Gadea, Laura Gabaldón Torres, Antonio Moreno Escribano, Antonio Candeliere Merlicco
OBJECTIVE: To determine the effect of disease-modifying drugs (DMDs) on disease activity rebound in patients discontinuing natalizumab (NTZ). METHODS: Twenty-one patients with relapsing-remitting multiple sclerosis (RRMS) treated with NTZ for ≥1 year and who switched to DMDs (glatiramer acetate [GA] or interferon) were followed up for 12 months in clinical practice. Clinical outcomes after NTZ cessation were assessed every 3 months for 1 year and MRI was performed at 12 months...
January 5, 2017: European Neurology
https://www.readbyqxmd.com/read/28043434/aortic-root-surgery-does-high-surgical-volume-and-a-consistent-perioperative-approach-improve-outcome
#4
Rajdeep Bilkhu, Pouya Youssefi, Gopal Soppa, Rajan Sharma, Anne Child, Mark Edsell, Jean-Pierre van Besouw, Marjan Jahangiri
There is evidence that high surgical volume and team consistency improve outcomes. Mortality of 4%-12% for aortic root surgery has been reported in the United States and UK. We aim to assess outcomes of patients undergoing aortic root surgery by a consistent, high-volume team. Data on patients undergoing elective or urgent aortic root replacement (ARR) were collected prospectively. Patients undergoing emergency surgery were excluded. A standardized perioperative approach was maintained and was achieved by delivering training to team members, including surgical trainees, anesthetic, nursing, and perfusion staff, whenever there was a change of team...
July 2016: Seminars in Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28042676/vitamin-d-insufficiency-in-the-first-6-months-of-infancy-and-challenge-proven-ige-mediated-food-allergy-at-1-year-of-age-a-case-cohort-study
#5
John Molloy, Jennifer J Koplin, Katrina J Allen, Mimi L K Tang, Fiona Collier, John B Carlin, Richard Saffery, David Burgner, Sarath Ranganathan, Terence Dwyer, Alister C Ward, Margarita Moreno-Betancur, Michael Clarke, Anne Louise Ponsonby, Peter Vuillermin
BACKGROUND: Ecological evidence suggests vitamin D insufficiency (VDI) due to lower ambient ultraviolet radiation (UVR) exposure may be a risk factor for IgE-mediated food allergy. However there are no studies relating directly measured VDI during early infancy to subsequent challenge-proven food allergy. OBJECTIVE: To prospectively investigate the association between VDI during infancy and challenge-proven food allergy at 1 year. METHODS: In a birth cohort (n=1074), we used a case-cohort design to compare 25-hydroxy-vitamin-D3 (25(OH)D3 ) levels among infants with food allergy versus a random subcohort (n=274)...
January 2, 2017: Allergy
https://www.readbyqxmd.com/read/28041830/luteal-phase-hcg-support-for-unexplained-recurrent-pregnancy-loss-a-low-hanging-fruit
#6
Chelsea Fox, Denise Azores-Gococo, Linda Swart, Kristin Holoch, Ricardo F Savaris, Creighton E Likes, Paul B Miller, David A Forstein, Bruce A Lessey
Recurrent pregnancy loss (RPL) is defined by two or more failed pregnancies and accounts for only 1-5% of pregnancy failures. Treatment options for unexplained RPL (uRPL) are limited. Previous studies suggest a link between delayed implantation and pregnancy loss. Based on this, a timely signal for rescue of the corpus luteum (CL) using human chorionic gonadotrophin (HCG) could improve outcomes in women with uRPL. This retrospective cohort study included 98 subjects with uRPL: 45 underwent 135 monitored cycles without HCG support; and 53 underwent 142 cycles with a single mid-luteal HCG injection...
December 21, 2016: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28040882/unbranched3-regulates-branching-by-modulating-cytokinin-biosynthesis-and-signaling-in-maize-and-rice
#7
Yanfang Du, Lei Liu, Manfei Li, Shuang Fang, Xiaomeng Shen, Jinfang Chu, Zuxin Zhang
UNBRANCHED3 (UB3), a member of the SQUAMOSA promoter binding protein-like (SPL) gene family, regulates kernel row number by negatively modulating the size of the inflorescence meristem in maize. However, the regulatory pathway by which UB3 mediates branching remains unknown. We introduced the UB3 into rice and maize to reveal its effects in the two crop plants, respectively. Furthermore, we performed transcriptome sequencing and protein-DNA binding assay to elucidate the regulatory pathway of UB3. We found that UB3 could bind and regulate the promoters of LONELY GUY1 (LOG1) and Type-A response regulators (ARRs), which participate in cytokinin biosynthesis and signaling...
January 1, 2017: New Phytologist
https://www.readbyqxmd.com/read/28040719/cancer-type-and-risk-of-newly-diagnosed-depression-among-elderly-medicare-beneficiaries-with-incident-breast-colorectal-and-prostate-cancers
#8
Monira Alwhaibi, Usha Sambamoorthi, Suresh Madhavan, Thomas Bias, Kimberly Kelly, James Walkup
BACKGROUND: Elderly individuals (age >65 years) with cancer are at high risk for newly diagnosed depression after a cancer diagnosis. It is not known whether the risk of newly diagnosed depression varies by cancer type. PURPOSE: To examine the variations in the risk of newly diagnosed depression by cancer type among elderly individuals with cancer. METHODS: This study used a retrospective cohort study design and data from the linked SEER-Medicare files...
January 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/28040137/prenatal-diagnosis-of-familial-transmission-of-17q12-microduplication-associated-with-no-apparent-phenotypic-abnormality
#9
Chih-Ping Chen, Chung-Hu Fu, Yi-Hui Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of familial transmission of 17q12 duplication associated with no apparent phenotypic abnormality. CASE REPORT: A 36-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Cytogenetic analysis revealed a karyotype of 46,XY. Array comparative genomic hybridization of uncultured amniocytes revealed a 1.42-Mb duplication of 17q12 or arr 17q12 (34,822,465-36,243,365) × 3 encompassing 12 Online Mendelian Inheritance in Man (OMIM) genes including LHX1, ACACA, and HNF1B...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28040136/clinical-findings-and-molecular-cytogenetic-study-of-de-novo-pure-chromosome-9p-deletion-pre-and-postnatal-diagnosis
#10
Qiao-Fang Hou, Dong Wu, Yan Chu, Shi-Xiu Liao
OBJECTIVE: The aim of this report is to describe the phenotype-genotype correlation of chromosome 9p deletion syndrome cases, particularly the prenatal cases. MATERIALS AND METHODS: A 30-year-old woman was referred to a hospital at 19(+1) weeks of gestation because of omphalocele detected in the fetus. The conventional karyotyping analysis and array comparative genomic hybridization (aCGH) were utilized for the prenatal diagnosis and genetic counseling in the fetus...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28040133/molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-8-or-r-8-p11-22%C3%A2-q11-21-in-an-18-year-old-female-with-short-stature-obesity-attention-deficit-hyperactivity-disorder-and-intellectual-disability
#11
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chien-Wen Yang, Meng-Shan Lee, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 8. MATERIALS AND METHODS: An 18-year-old female presented with short stature, obesity, developmental delay, speech delay, dyslexia, attention deficit hyperactivity disorder, and intellectual disability. Cytogenetic analysis of the peripheral blood revealed a karyotype of 47,XX,+mar[22]/46,XX[18]. Array comparative genomic hybridization and metaphase fluorescence in situ hybridization analyses were performed on the peripheral blood to determine the origin and mosaicism of the sSMC, and quantitative fluorescent polymerase chain reaction was used to exclude uniparental disomy...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28040132/molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-8-or-r-8-p12%C3%A2-q13-1-associated-with-phenotypic-abnormalities
#12
Chih-Ping Chen, Shuan-Pei Lin, Yi-Hui Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chien-Wen Yang, Wen-Lin Chen, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 8. MATERIALS AND METHODS: A 35-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+mar[20]/46,XY[39]. However, array comparative genomic hybridization analysis on the subcultured amniocytes revealed no genomic imbalance. Prenatal ultrasound showed bilateral ventriculomegaly, intrauterine growth restriction, and an enlarged right atrium...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28034809/trends-in-ventriculostomy-associated-infections-and-mortality-in-aneurysmal-subarachnoid-hemorrhage-data-from-the-nationwide-inpatient-sample
#13
Roy Poblete, Ling Zheng, Ranjita Raghavan, Steven Cen, Arun Amar, Nerses Sanossian, William Mack, May Kim-Tenser
BACKGROUND: Patients with aneurysmal subarachnoid hemorrhage (aSAH) are susceptible to various medical complications, including ventriculostomy-associated infections (VAIs) in those who undergo external ventricular drain (EVD) placement. Many VAI preventative strategies have been utilized over the last 20 years, but their overall effect is unknown. Using the Nationwide (National) Inpatient Sample (NIS), this study examines trends in VAI rates and mortality over a recent 12-year period in the aSAH population...
December 26, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/28027680/comparative-effectiveness-of-interferons-in-relapsing-remitting-multiple-sclerosis-a-meta-analysis-of-real-world-studies
#14
Thomas R Einarson, Basil G Bereza, Márcio Machado
BACKGROUND: Differences between interferons have been evaluated for over 20 years. While RCT data are mainly used for assessments and strong data for causal inferences, they do not necessarily reflect everyday practice. Real-world data may provide additional information. PURPOSE: To assess the results, quality, and representativeness of observational studies directly comparing IFNs in RRMS. METHODS: Medline and Embase were searched for observational studies comparing IFN-beta-1a 30 mcg IM (Avonex), IFN-beta-1a 44 mcg SC (Rebif) and/or IFN-beta-1b 250 mcg SC (Betaseron)...
December 27, 2016: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28027368/effect-of-a-primary-care-based-psychological-intervention-on-symptoms-of-common-mental-disorders-in-zimbabwe-a-randomized-clinical-trial
#15
Dixon Chibanda, Helen A Weiss, Ruth Verhey, Victoria Simms, Ronald Munjoma, Simbarashe Rusakaniko, Alfred Chingono, Epiphania Munetsi, Tarisai Bere, Ethel Manda, Melanie Abas, Ricardo Araya
Importance: Depression and anxiety are common mental disorders globally but are rarely recognized or treated in low-income settings. Task-shifting of mental health care to lay health workers (LHWs) might decrease the treatment gap. Objective: To evaluate the effectiveness of a culturally adapted psychological intervention for common mental disorders delivered by LHWs in primary care. Design, Setting, and Participants: Cluster randomized clinical trial with 6 months' follow-up conducted from September 1, 2014, to May 25, 2015, in Harare, Zimbabwe...
27, 2016: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28017208/subjective-hearing-impairment-after-subarachnoid-haemorrhage-prevalence-and-risk-factors
#16
Erik M Vos, Paut Greebe, J M Anne Visser-Meily, Gabriel J E Rinkel, Mervyn D I Vergouwen
BACKGROUND: Sensorineural hearing impairment is a key symptom in patients with superficial siderosis of the central nervous system, a disease caused by chronic or intermittent haemorrhage into the subarachnoid space. We investigated the prevalence and risk factors of subjective hearing impairment after SAH. METHODS: We systematically interviewed all SAH patients admitted between June 2011 and December 2014, who were able to visit the SAH outpatient clinic six to eight weeks after hospital discharge...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28010993/adverse-events-after-first-single-mesh-and-non-mesh-surgical-procedures-for-stress-urinary-incontinence-and-pelvic-organ-prolapse-in-scotland-1997-2016-a-population-based-cohort-study
#17
Joanne R Morling, David A McAllister, Wael Agur, Colin M Fischbacher, Cathryn M A Glazener, Karen Guerrero, Leanne Hopkins, Rachael Wood
BACKGROUND: Concerns have been raised about the safety of surgery for stress urinary incontinence and pelvic organ prolapse using transvaginal mesh. We assessed adverse outcomes after first, single mesh procedures and comparable non-mesh procedures. METHODS: We did a cohort study of women in Scotland aged 20 years or older undergoing a first, single incontinence procedure or prolapse procedure during 1997-98 to 2015-16 identified from a national hospital admission database...
December 20, 2016: Lancet
https://www.readbyqxmd.com/read/28009947/root-replacement-for-graft-infection-using-an-all-biologic-xenopericardial-conduit
#18
Sabina P W Guenther, Angela Reichelt, Sven Peterss, Maximilian Luehr, Erik Bagaev, Christian Hagl, Maximilian A Pichlmaier, Nawid Khaladj
BACKGROUND: The management of graft infection following ascending aortic replacement (AAR) and/or aortic valve replacement (AVR) with destruction of the root remains a challenge. Besides technical issues, the choice of graft material is controversial. The study aim was to investigate the initial results of aortic root replacement (ARR) as redo-surgery for infection using the xenopericardial all-biologic conduit (BioIntegral) as an alternative to a homograft or prosthetic material. METHODS: Between February 2013 and January 2015, a total of 18 consecutive patients (16 males, two females; mean age 61 ± 14 years) were reoperated on for infection at a mean of 55 ± 61 months (range: 3 to 219 months) following previous AVR (n = 6), supracoronary aortic replacement (SAR, n = 2), AVR + SAR (n = 1), root replacement (n = 7), and root reconstruction (n = 2)...
July 2016: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/27999011/intrinsic-rifamycin-resistance-of-mycobacterium-abscessus-is-mediated-by-adp-ribosyltransferase-mab_0591
#19
Anna Rominski, Anna Roditscheff, Petra Selchow, Erik C Böttger, Peter Sander
OBJECTIVES: Rifampicin, a potent first-line TB drug of the rifamycin group, shows only little activity against the emerging pathogen Mycobacterium abscessus. Reportedly, bacterial resistance to rifampicin is associated with polymorphisms in the target gene rpoB or the presence of enzymes that modify and thereby inactivate rifampicin. The aim of this study was to investigate the role of the MAB_0591 (arrMab)-encoded rifampicin ADP-ribosyltransferase (Arr_Mab) in innate high-level rifampicin resistance in M...
December 20, 2016: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/27998755/circadian-rhythms-accelerate-wound-healing-in-female-siberian-hamsters
#20
Erin J Cable, Kenneth G Onishi, Brian J Prendergast
Circadian rhythms (CRs) provide temporal regulation and coordination of numerous physiological traits, including immune function. CRs in multiple aspects of immune function are absent in rodents that have been rendered circadian-arrhythmic through various methods. In Siberian hamsters, circadian arrhythmia can be induced by disruptive light treatments (DPS). Here we examined CRs in wound healing, and the effects of circadian disruption on wound healing in DPS-arrhythmic hamsters. Circadian entrained/rhythmic (RHYTH) and behaviorally-arrhythmic (ARR) female hamsters were administered a cutaneous wound either 3h after light onset (ZT03) or 2h after dark onset (ZT18); wound size was quantified daily using image analyses...
December 17, 2016: Physiology & Behavior
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