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https://www.readbyqxmd.com/read/29331982/a-false-carrier-state-for-the-c-579g-a-mutation-in-the-ncf1-gene-in-ashkenazi-jews
#1
Martin De Boer, Ronit Gavrieli, Karin van Leeuwen, Haike Reznik Wolf, Maya Dushnitzki, Yifaat Bar-Yosef, Anat Bar-Ziv, Doron Behar, Shlomo Lipitz, Tal Elkan Miller, Anton T J Tool, Taco W Kuijpers, Timo K van den Berg, Baruch Wolach, Dirk Roos, Elon Pras
BACKGROUND: Mutations in the NCF1 gene that encodes p47phox, a subunit of the NADPH oxidase complex, cause chronic granulomatous disease (CGD). In Kavkazi Jews, a c.579G>A (p.Trp193Ter) mutation in NCF1 is frequently found, leading to CGD. The same mutation is found in about 1% of Ashkenazi Jews, although Ashkenazi CGD patients with this mutation have never been described. METHODS: We used Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), gene scan analysis and Ion Torrent Next Generation Sequencing for genetic analysis, and measured NADPH oxidase activity and p47phox expression...
January 13, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29331320/zika-dengue-and-yellow-fever-viruses-induce-differential-anti-viral-immune-responses-in-human-monocytic-and-first-trimester-trophoblast-cells
#2
Huanle Luo, Evandro R Winkelmann, Ildefonso Fernandez-Salas, Li Li, Sandra V Mayer, Rogelio Daniz-Lozano, Rosa Ma Sanchez-Casas, Nikos Vasilakis, Robert Tesh, Alan D Barrett, Scott C Weaver, Tian Wang
Zika virus (ZIKV) is a mosquito-borne flavivirus associated with severe neonatal birth defects, but the causative mechanism is incompletely understood. ZIKV shares sequence homology and early clinical manifestations with yellow fever virus (YFV) and dengue virus (DENV) and are all transmitted in urban cycles by the same species of mosquitoes. However, YFV and DENV have been rarely reported to cause congenital diseases. Here, we compared infection with a contemporary ZIKV strain (FSS13025) to YFV17D and DENV-4 in human monocytic cells (THP-1) and first-trimester trophoblasts (HTR-8)...
January 10, 2018: Antiviral Research
https://www.readbyqxmd.com/read/29331003/oral-sildenafil-use-in-neonates-with-persistent-pulmonary-hypertension-of-newborn
#3
Ali Shabbir Hussain, Rehan Ali, Shakeel Ahmed, Farah Naz, Anila Haroon
BACKGROUND: The prevalence of PPHN has been estimated at 1.9 per 1000 live births. After the discovery of iNO's, its efficacy and benefit in PPHN is well established. Even in the best of centers equipped with iNo and ECMO the mortality is around 20%. Also, iNO is expensive and difficult to administer and monitor which makes it difficult choice in our part of the world. Furthermore About 40% of patients do not respond or have rebound pulmonary hypertension after discontinuation. Owing to these reasons, other treatment modalities like phosphodiesterase inhibitors such as Sildenafil need to be evaluated...
October 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/29329542/relative-validity-of-a-web-based-food-frequency-questionnaire-for-danish-adolescents
#4
Anne A Bjerregaard, Thorhallur I Halldorsson, Freja B Kampmann, Sjurdur F Olsen, Inge Tetens
BACKGROUND: With increased focus on dietary intake among youth and risk of diseases later in life, it is of importance, prior to assessing diet-disease relationships, to examine the validity of the dietary assessment tool. This study's objective was to evaluate the relative validity of a self-administered web-based FFQ among Danish children aged 12 to 15 years. METHODS: From a nested sub-cohort within the Danish National Birth Cohort, 124 adolescents participated...
January 12, 2018: Nutrition Journal
https://www.readbyqxmd.com/read/29329526/definitions-measurements-and-prevalence-of-fear-of-childbirth-a-systematic-review
#5
C Nilsson, E Hessman, H Sjöblom, A Dencker, E Jangsten, M Mollberg, H Patel, C Sparud-Lundin, H Wigert, C Begley
BACKGROUND: Fear of Childbirth (FOC) is a common problem affecting women's health and wellbeing, and a common reason for requesting caesarean section. The aims of this review were to summarise published research on prevalence of FOC in childbearing women and how it is defined and measured during pregnancy and postpartum, and to search for useful measures of FOC, for research as well as for clinical settings. METHODS: Five bibliographic databases in March 2015 were searched for published research on FOC, using a protocol agreed a priori...
January 12, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29329371/alcohol-use-in-adolescence-and-later-working-memory-findings-from-a-large-population-based-birth-cohort
#6
Liam Mahedy, Matt Field, Suzanne Gage, Gemma Hammerton, Jon Heron, Matt Hickman, Marcus R Munafò
Aims: The study aimed to examine the association between adolescent alcohol use and working memory (WM) using a large population sample. Methods: Data from the Avon Longitudinal Study of Parents and Children were used to investigate the association between alcohol use at age 15 years and WM 3 years later, assessed using the N-back task (N ~ 3300). A three-category ordinal variable captured mutually exclusive alcohol groupings ranging in order of severity (i.e. low alcohol users, frequent drinkers and frequent/binge drinkers)...
January 10, 2018: Alcohol and Alcoholism: International Journal of the Medical Council on Alcoholism
https://www.readbyqxmd.com/read/29327941/infection-is-not-required-for-mucoinflammatory-lung-disease-in-cftr-knockout-ferrets
#7
Bradley H Rosen, T Idil Apak Evans, Shashanna R Moll, Jaimie S Gray, Bo Liang, Xingshen Sun, Yulong Zhang, Chandler W Jensen-Cody, Anthony M Swatek, Weihong Zhou, Nan He, Pavana G Rotti, Scott R Tyler, Nicholas W Keiser, Preston J Anderson, Leonard Brooks, Yalan Li, R Marshall Pope, Maheen Rajput, Eric A Hoffman, Kai Wang, J Kirk Harris, Kalpaj R Parekh, Katherine N Gibson-Corley, John F Engelhardt
RATIONALE: Classical interpretation of cystic fibrosis (CF) lung disease pathogenesis suggests that infection initiates disease progression, leading to an exuberant inflammatory response, excessive mucus, and ultimately bronchiectasis. While symptomatic antibiotic treatment controls lung infections early in disease, life-long bacterial residence typically ensues. Processes that control the establishment of persistent bacteria in the CF lung, and the contribution of non-infectious components to disease pathogenesis, are poorly understood...
January 12, 2018: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/29327300/cant%C3%A3%C2%BA-syndrome-with-coexisting-familial-pituitary-adenoma
#8
Pedro Marques, Rupert Spencer, Patrick J Morrison, Ian M Carr, Mary N Dang, David T Bonthron, Steven Hunter, Márta Korbonits
CONTEXT: Pseudoacromegaly describes conditions with an acromegaly related physical appearance without abnormalities in the growth hormone (GH) axis. Acromegaloid facies, together with hypertrichosis, are typical manifestations of Cantú syndrome. CASE DESCRIPTION: We present a three-generation family with 5 affected members, with marked acromegaloid facies and prominent hypertrichosis, due to a novel missense variant in the ABCC9 gene. The proband, a 2-year-old girl, was referred due to marked hypertrichosis, noticed soon after birth, associated with coarsening of her facial appearance...
January 11, 2018: Endocrine
https://www.readbyqxmd.com/read/29325466/the-correlation-between-birth-weight-and-insulin-like-growth-factor-binding-protein-1-igfbp-1-kisspeptin-1-kiss-1-and-three-dimensional-fetal-volume
#9
Gunsu Kimyon Comert, Sertac Esin, Gamze Sinem Caglar, Bulent Yirci, Sedat Ozdemir, Selda Demirtas, Omer Kandemir
PURPOSE: This study aimed to determine the relationship between birth weight, and maternal serum insulin-like growth factor binding protein-1 (IGFBP-1) and kisspeptin-1 (KISS-1) levels, and first-trimester fetal volume (FV) based on three-dimensional ultrasonography. MATERIALS AND METHODS: The study included 142 pregnant women at gestational week 110-136. All fetuses were imaged ultrasonographically by the same physician. Maternal blood samples were collected at the time of ultrasonographic evaluation and analyzed for IGFBP-1 and KISS-1 levels via enzyme-linked immunosorbent assay (ELISA)...
January 11, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29324614/subsequent-pregnancy-outcomes-in-patients-with-peripartum-cardiomyopathy
#10
Elisabeth Codsi, Carl H Rose, Lori A Blauwet
OBJECTIVE: To describe cardiac and obstetric outcomes in subsequent pregnancies of patients with peripartum cardiomyopathy and to report demographic and clinical characteristics of index pregnancies. METHODS: We conducted a retrospective cohort study of all pregnant patients with prior peripartum cardiomyopathy seen at the Mayo Clinic from January 2000 through March 2017. Maternal and neonatal outcome data of index and all subsequent pregnancies were abstracted, and all echocardiography examinations were individually reviewed...
January 9, 2018: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29324610/risk-factors-for-the-development-of-obstetric-anal-sphincter-injuries-in-modern-obstetric-practice
#11
Olga Ramm, Victoria G Woo, Yun-Yi Hung, Hsuan-Chih Chen, Miranda L Ritterman Weintraub
OBJECTIVE: To characterize the rate of obstetric anal sphincter injuries and identify key risk factors of obstetric anal sphincter injuries, including duration of the second stage of labor. METHODS: This retrospective cohort study included all singleton, term, cephalic vaginal deliveries within Kaiser Permanente Northern California between January 2013 and December 2014 (N=22,741). Incidence of obstetric anal sphincter injuries, defined as third- or fourth-degree perineal lacerations, was the primary outcome...
January 9, 2018: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29324608/quality-assurance-practices-in-obstetric-care-a-survey-of-hospitals-in-california
#12
Lisbet S Lundsberg, Henry C Lee, Grace Villarin Dueñas, Kimberly D Gregory, Holly K Grossetta Nardini, Christian M Pettker, Jessica L Illuzzi, Xiao Xu
OBJECTIVE: To assess hospital practices in obstetric quality management activities and identify institutional characteristics associated with utilization of evidence-supported practices. METHODS: Data for this study came from a statewide survey of obstetric hospitals in California regarding their organization and delivery of perinatal care. We analyzed responses from 185 hospitals that completed quality assurance sections of the survey to assess their practices in a broad spectrum of quality enhancement activities...
January 9, 2018: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29324603/pregnancy-associated-hypertension-and-offspring-cardiometabolic-health
#13
Madeline Murguia Rice, Mark B Landon, Michael W Varner, Brian M Casey, Uma M Reddy, Ronald J Wapner, Dwight J Rouse, Alan T N Tita, John M Thorp, Edward K Chien, George Saade, Alan M Peaceman, Sean C Blackwell
OBJECTIVE: To evaluate whether pregnancy-associated hypertension (gestational hypertension and preeclampsia) was associated with the cardiometabolic health of young offspring. METHODS: This was a prospective observational follow-up study from 2012 to 2013 of children born to women previously enrolled in a mild gestational diabetes mellitus treatment trial or nongestational diabetes mellitus observational study. At 5-10 years after birth, children were examined and fasting blood samples obtained to determine the following cardiometabolic risk factors: blood pressure (BP), high-density lipoprotein cholesterol, triglycerides, glucose, homeostatic model assessment of insulin resistance, waist circumference, and body mass index (BMI)...
January 9, 2018: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29324602/antecedents-of-abnormally-invasive-placenta-in-primiparous-women-risk-associated-with-gynecologic-procedures
#14
Heather J Baldwin, Jillian A Patterson, Tanya A Nippita, Siranda Torvaldsen, Ibinabo Ibiebele, Judy M Simpson, Jane B Ford
OBJECTIVE: To evaluate the association between prior invasive gynecologic procedures and the risk of subsequent abnormally invasive placenta (ie, placenta accreta, increta, and percreta). METHODS: We conducted a population-based data linkage study including all primiparous women who delivered in New South Wales, Australia, between 2003 and 2012. Data were obtained from linked birth and hospital admissions with a minimum lookback period of 2 years. Prior procedures invasive of the uterus were considered including gynecologic laparoscopy with instrumentation of the uterus; hysteroscopy, including operative hysteroscopy; curettage, including suction curettage and surgical termination; and endometrial ablation...
January 9, 2018: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29323398/night-shift-work-and-hematological-cancers-a-population-based-case-control-study-in-three-nordic-countries
#15
Madar Talibov, Eero Pukkala, Jan Ivar Martinsen, Laufey Tryggvadottir, Elisabete Weiderpass, Johnni Hansen
Objective The aim of this case-control study was to assess the effect of night-shift work on the risk of hematological cancers. Methods The study included 39 371 leukemia, 56 713 non-Hodgkin lymphoma, 9322 Hodgkin lymphoma, and 26 188 multiple myeloma cases diagnosed between 1961 and 2005 in Finland, Sweden, and Iceland. Five controls for each case were selected from the Nordic Occupational Cancer Study (NOCCA) cohort, matched by year of birth, sex and country. Night-shift exposure was assessed by using the NOCCA job-exposure matrix (JEM)...
January 11, 2018: Scandinavian Journal of Work, Environment & Health
https://www.readbyqxmd.com/read/29321019/a-qualitative-study-on-coping-behaviors-and-influencing-factors-among-mothers-in-japan-raising-children-under-three-years-old-while-experiencing-physical-and-mental-subjective-symptoms
#16
Misato Kaso, Kikuko Miyazaki, Takeo Nakayama
BACKGROUND: No studies illustrating the coping behaviors of mothers experiencing physical and mental subjective symptoms, or the factors that contribute to these behaviors, have been investigated. Therefore, the present study sought to develop a conceptual framework on the coping behaviors and contributing factors of mothers experiencing physical and mental subjective symptoms. METHODS: This qualitative study involved theoretical sampling and semi-structured interviews of mothers who were raising children under 3 years of age in Japan and had experienced physical and mental subjective symptoms since giving birth...
January 10, 2018: BMC Women's Health
https://www.readbyqxmd.com/read/29321012/adaptation-of-child-oral-health-education-leaflets-for-arabic-migrants-in-australia-a-qualitative-study
#17
Amit Arora, Ibrahim Al-Salti, Hussam Murad, Quang Tran, Rhonda Itaoui, Sameer Bhole, Shilpi Ajwani, Charlotte Jones, Narendar Manohar
BACKGROUND: The purpose of this study was to gain an in-depth understanding of Arabic-speaking mothers views on the usefulness of existing oral health education leaflets aimed at young children and also to record their views on the tailored versions of these leaflets. METHODS: This qualitative study was nested within a large ongoing birth cohort study in South Western Sydney, Australia. Arabic-speaking mothers (n = 19) with young children were purposively selected and approached for a semi-structured interview...
January 10, 2018: BMC Oral Health
https://www.readbyqxmd.com/read/29320998/the-perceptions-and-experiences-of-women-who-achieved-and-did-not-achieve-a-waterbirth
#18
Lucy Lewis, Yvonne L Hauck, Caroline Crichton, Courtney Barnes, Corrinne Poletti, Helen Overing, Louise Keyes, Brooke Thomson
BACKGROUND: There is a gap in knowledge and understanding relating to the experiences of women exposed to the opportunity of waterbirth. Our aim was to explore the perceptions and experiences of women who achieved or did not achieve their planned waterbirth. METHODS: An exploratory design using critical incident techniques was conducted between December 2015 and July 2016, in the birth centre of the tertiary public maternity hospital in Western Australia. Women were telephoned 6 weeks post birth...
January 10, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29320806/experiences-of-living-kidney-donors-during-the-donation-process
#19
Hanne Agerskov, Claus Bistrup, Mette S Ludvigsen, Birthe D Pedersen
BACKGROUND: The shortage of organs from deceased donors has led to more living donation. Furthermore, immunological developments have made it possible to perform kidney transplantation despite preformed antibodies against the donor organ. This has led to a broader recruitment base of living donors. OBJECTIVE: The objective was to investigate experiences and considerations on becoming, and during the process of being, a living kidney donor. MATERIALS AND METHODS: Interviews and participant observation were conducted before, during and after the donation...
January 10, 2018: Journal of Renal Care
https://www.readbyqxmd.com/read/29320800/risks-of-preterm-premature-rupture-of-membranes-and-preterm-birth-post-fetoscopy-based-on-location-of-trocar-insertion-site
#20
Ramen H Chmait, Andrew H Chon, Lisa M Korst, Arlyn Llanes, Eftichia V Kontopoulos, Ruben A Quintero
OBJECTIVE:  The objective of this study was to assess whether the location of the trocar insertion site for laser treatment of twin-twin transfusion syndrome was associated with preterm-premature rupture of membranes (PPROM) and preterm birth (PTB). STUDY DESIGN:  In this study trocar location was documented in the operating room. Lower uterine segment (LUS) location was defined as any insertion <10 cm vertically from the pubic symphysis. Lateral location was defined as ≥5 cm horizontally from the midline...
January 10, 2018: American Journal of Perinatology
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