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https://www.readbyqxmd.com/read/28432995/eye-disorder-differentiates-seasonality-outcomes-in-persons-with-severe-visual-impairment
#1
Heller Madsen, Henrik Dam, Ida Hageman
BACKGROUND: Light plays a crucial role in both the pathogenesis and treatment of seasonal affective disorder (SAD). Consequently decreased retinal sensitivity to light has been suggested to be a risk factor for SAD. In a population of persons with severe visual impairment we recently found a highly increased prevalence of SAD. We now aimed to identify eye disorders or anatomical locations with specific association to seasonality. METHODS: In 912 cases (33%) from our prior seasonal pattern assessment questionnaire (SPAQ) screening study, we retrieved eye diagnoses from the Danish National Patient Registry and analyzed for specific eye disorders or anatomical locations that significantly differentiated SPAQ outcomes (global seasonality score, (GSS) and SPAQ-SAD prevalence)...
April 13, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28432975/vaccination-strategies-against-zika-virus
#2
REVIEW
Estefania Fernandez, Michael S Diamond
The epidemic emergence of Zika virus (ZIKV) in 2015-2016 has been associated with congenital malformations and neurological sequela. Current efforts to develop a ZIKV vaccine build on technologies that successfully reduced infection or disease burden against closely related flaviviruses or other RNA viruses. Subunit-based (DNA plasmid and modified mRNA), viral vectored (adeno- and measles viruses) and inactivated viral vaccines are already advancing to clinical trials in humans after successful mouse and non-human primate studies...
April 19, 2017: Current Opinion in Virology
https://www.readbyqxmd.com/read/28432740/novel-3q27-2-qter-deletion-in-a-patient-with-diamond-blackfan-anemia-and-immunodeficiency-case-report-and-review-of-literature
#3
Ebba Alkhunaizi, Brett Schrewe, Reza Alizadehfar, Catherine Vézina, Grant S Stewart, Nancy Braverman
3q27.2-qter deletion syndromes feature an overlapping set of terminal and interstitial deletions with variable congenital malformations. Diamond-Blackfan anemia (DBA) is etiologically heterogeneous disorder in which one cause is dominant mutations of the RPL35A gene on 3q29. We report a child with a 3q27.2-qter deletion that contains the RPL35A gene. She had clinical and laboratory features consistent with DBA and as well, an unexplained immunodeficiency disorder. Given these unusual findings, we reviewed other patients in the literature with overlapping genomic deletions...
April 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28432734/monogenic-diabetes-syndromes-locus-specific-databases-for-alstr%C3%A3-m-wolfram-and-thiamine-responsive-megaloblastic-anaemia
#4
Dewi Astuti, Ataf Sabir, Piers Fulton, Malgorzata Zatyka, Denise Williams, Carol Hardy, Gabriella Milan, Francesca Favaretto, Patrick Yu-Wai-Man, Julia Rohayem, Miguel López de Heredia, Tamara Hershey, Lisbeth Tranebjaerg, Jian-Hua Chen, Annabel Chaussenot, Virginia Nunes, Bess Marshall, Susan McAfferty, Vallo Tillmann, Pietro Maffei, Veronique Paquis-Flucklinger, Tarekign Geberhiwot, Wojciech Mlynarski, Kay Parkinson, Virginie Picard, Gema Esteban Bueno, Renuka Dias, Amy Arnold, Caitlin Richens, Richard Paisey, Fumi Urano, Robert Semple, Richard Sinnott, Timothy G Barrett
We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease associated variants (December 2016) for: WFS1 (n = 309), CISD2 (n = 3), ALMS1 (n = 268), and SLC19A2 (n = 48) for Wolfram type 1, Wolfram type 2, Alström and Thiamine-responsive megaloblastic anaemia syndromes respectively; and included 23 previously unpublished novel germline variants in WFS1 and 17 variants in ALMS1...
April 21, 2017: Human Mutation
https://www.readbyqxmd.com/read/28432659/current-role-of-blood-and-urine-biomarkers-in-the-clinical-care-of-adults-with-congenital-heart-disease
#5
REVIEW
Saurabh Rajpal, Laith Alshawabkeh, Alexander R Opotowsky
PURPOSE OF REVIEW: There is an increasing number of adult patients with congenital heart disease (CHD). While several biomarkers have been validated and integrated into general cardiology clinical practice, these tests are often applied to adults with CHD in the absence of disease-specific validation. Although these patients are often grouped into a single population, there is heterogeneous pathophysiology, variable disease chronicity, extensive multisystem involvement, and a low event rate relative to acquired heart disease...
June 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28432402/predictors-of-missed-appointments-in-patients-referred-for-congenital-or-pediatric-cardiac-magnetic-resonance
#6
Jimmy C Lu, Ray Lowery, Sunkyung Yu, Maryam Ghadimi Mahani, Prachi P Agarwal, Adam L Dorfman
BACKGROUND: Congenital cardiac magnetic resonance is a limited resource because of scanner and physician availability. Missed appointments decrease scheduling efficiency, have financial implications and represent missed care opportunities. OBJECTIVE: To characterize the rate of missed appointments and identify modifiable predictors. MATERIALS AND METHODS: This single-center retrospective study included all patients with outpatient congenital or pediatric cardiac MR appointments from Jan...
April 21, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28432216/embryonic-cholecystitis-and-defective-gallbladder-contraction-in-the-sox17-haploinsufficient-model-of-biliary-atresia
#7
Hiroki Higashiyama, Aisa Ozawa, Hiroyuki Sumitomo, Mami Uemura, Ko Fujino, Hitomi Igarashi, Kenya Imaimatsu, Naoki Tsunekawa, Yoshikazu Hirate, Masamichi Kurohmaru, Yukio Saijoh, Masami Kanai-Azuma, Yoshiakira Kanai
The gallbladder excretes cytotoxic bile acids to the duodenum through the cystic duct and common bile duct system. Sox17 haploinsufficiency causes the biliary atresia-like phenotypes and hepatitis in late organogenesis mouse embryos. However, the molecular and cellular mechanisms in the Sox17-haploinsufficient gallbladder and liver in the etiology of biliary atresia remain unclear. In this study, transcriptomic analyses revealed the early onset of cholecystitis in the Sox17(+/-) embryos, together with the appearance of ectopic cystic duct-like epithelia in their gallbladders...
April 21, 2017: Development
https://www.readbyqxmd.com/read/28431661/hwang-jh-do-ys-park-kb-chung-hh-park-hs-hyun-d-embolization-of-congenital-renal-arteriovenous-malformations-using-ethanol-and-coil-depending-on-angiographic-types-j-vasc-interv-radiol-2017-28-64-70
#8
(no author information available yet)
No abstract text is available yet for this article.
May 2017: Journal of Vascular and Interventional Radiology: JVIR
https://www.readbyqxmd.com/read/28431326/incidentally-detected-splenogonadal-fusion-in-a-laparoscopic-transabdominal-preperitoneal-hernia-repair-operation-a-case-report
#9
Yuichi Akama, Kimiyoshi Shimanuki, Shuji Asahi, Yohei Watanabe, Kazuhide Ko, Ryotaro Takano, Hodaka Amano, Takanori Kawaguchi, Eiji Uchida
INTRODUCTION: Splenogonadal fusion (SGF) is a rare congenital malformation in which the spleen is connected to the gonad. Few SGF cases have been reported in the English scientific literature, and we are unaware of any previous case reports of SGF with inguinal hernia by laparoscopic transabdominal preperitoneal hernia repair (TAPP). Here, we report a case of SGF that was incidentally detected during a TAPP procedure, with an uneventful postoperative course without complications. PRESENTATION OF CASE: A 76-year-old male presented with a 10-year history of left inguinal swelling...
April 5, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28431283/zika-virus-infection-of-adult-and-fetal-stat2-knock-out-hamsters
#10
Venkatraman Siddharthan, Arnaud J Van Wettere, Rong Li, Jinxin Miao, Zhongde Wang, John D Morrey, Justin G Julander
Zika virus (ZIKV) infection was investigated in adult and fetal STAT2 knock-out (KO) hamsters. Subcutaneous injection of ZIKV of adults resulted in morbidity, mortality, and infection of the uterus, placenta, brain, spinal cord, and testicles, thus providing an opportunity to evaluate congenital ZIKV infection in a second rodent species besides mice. ZIKV-infected cells with morphologies of Sertoli cells and spermatogonia were observed in the testes, which may have implications for sexual transmission and male sterility...
April 18, 2017: Virology
https://www.readbyqxmd.com/read/28431249/macrophages-facilitate-electrical-conduction-in-the-heart
#11
Maarten Hulsmans, Sebastian Clauss, Ling Xiao, Aaron D Aguirre, Kevin R King, Alan Hanley, William J Hucker, Eike M Wülfers, Gunnar Seemann, Gabriel Courties, Yoshiko Iwamoto, Yuan Sun, Andrej J Savol, Hendrik B Sager, Kory J Lavine, Gregory A Fishbein, Diane E Capen, Nicolas Da Silva, Lucile Miquerol, Hiroko Wakimoto, Christine E Seidman, Jonathan G Seidman, Ruslan I Sadreyev, Kamila Naxerova, Richard N Mitchell, Dennis Brown, Peter Libby, Ralph Weissleder, Filip K Swirski, Peter Kohl, Claudio Vinegoni, David J Milan, Patrick T Ellinor, Matthias Nahrendorf
Organ-specific functions of tissue-resident macrophages in the steady-state heart are unknown. Here, we show that cardiac macrophages facilitate electrical conduction through the distal atrioventricular node, where conducting cells densely intersperse with elongated macrophages expressing connexin 43. When coupled to spontaneously beating cardiomyocytes via connexin-43-containing gap junctions, cardiac macrophages have a negative resting membrane potential and depolarize in synchrony with cardiomyocytes. Conversely, macrophages render the resting membrane potential of cardiomyocytes more positive and, according to computational modeling, accelerate their repolarization...
April 20, 2017: Cell
https://www.readbyqxmd.com/read/28431165/corrigendum-to-glial-fibrillary-acidic-protein-plasma-levels-are-correlated-with-degree-of-hypothermia-during-cardiopulmonary-bypass-in-congenital-heart-disease-surgery-interact-cardiovasc-thorac-surg-2017-%C3%A2
#12
Luca Vedovelli, Massimo Padalino, Sara D'Aronco, Giovanni Stellin, Carlo Ori, Virgilio P Carnielli, Manuela Simonato, Paola Cogo
No abstract text is available yet for this article.
April 17, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28431056/long-term-outcome-of-transvenous-pacemaker-implantation-in-infants-a-retrospective-cohort-study
#13
Laura M Vos, Janneke A E Kammeraad, Matthias W Freund, Andreas C Blank, Johannes M P J Breur
Aim: Evaluation of long-term outcome of transvenous pacemaker (PM) implantation in infants. Methods and Results: A retrospective analysis of all transvenous PM implantations in infants <10 kg between September 1997 and October 2001 was made. Indications for PM implantation, age at implantation, and determinants of long-term outcome including cardiac function, PM function, and PM (system) complications were noted. Seven patients underwent transvenous VVI(R) PM implantation...
April 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28430973/biological-functions-of-fucose-in-mammals
#14
Michael Schneider, Esam Al-Shareffi, Robert S Haltiwanger
Fucose is a 6-deoxy hexose in the L-configuration found in a large variety of different organisms. In mammals, fucose is incorporated into N-glycans, O-glycans and glycolipids by thirteen fucosyltransferases, all of which utilize the nucleotide charged form, GDP-fucose, to modify targets. Three of the fucosyltransferases, FUT8, FUT12/POFUT1, and FUT13/POFUT2, are essential for proper development in mice. Fucose modifications have also been implicated in many other biological functions including immunity and cancer...
April 18, 2017: Glycobiology
https://www.readbyqxmd.com/read/28430913/prediction-of-adverse-events-after-catheter-based-procedures-in-adolescents-and-adults-with-congenital-heart-disease-in-the-impact-registry
#15
Ada C Stefanescu Schmidt, Aimee Armstrong, Kevin F Kennedy, David Nykanen, Jamil Aboulhosn, Ami B Bhatt
Aims: We sought to identify factors associated with major adverse events (MAE) after cardiac catheterization in adolescents and adults with congenital heart disease (CHD), and create the first model to individualize risk discussions in this growing population. Methods and results: Improving Pediatric and Adult Congenital Treatment (IMPACT), a National Cardiovascular Data Registry, contains congenital catheterization data from over 87 hospitals in the United States...
April 18, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28430874/developmental-sall2-transcription-factor-a-new-player-in-cancer
#16
Viviana E Hermosilla, Matias I Hepp, David Escobar, Carlos Farlas, Elizabeth N Riffo, Ariel F Castro, Roxana Pincheira
SALL2, also known as Spalt-like transcription factor 2, is a member of the SALL family of transcription factors involved in development and conserved through evolution. Since its identification in 1996, findings indicate that SALL2 plays a role in neurogenesis, neuronal differentiation and eye development. Consistently, SALL2 deficiency associates with neural tube defects and coloboma, a congenital eye disease. Relevant to cancer, clinical studies indicate that SALL2 is deregulated in various cancers, and is a specific biomarker for Synovial Sarcoma...
April 18, 2017: Carcinogenesis
https://www.readbyqxmd.com/read/28430330/long-term-visual-outcomes-in-children-with-primary-congenital-glaucoma
#17
Sanaa A Yassin
PURPOSE: To determine the long-term visual outcomes and risk factors for visual loss in children with primary congenital glaucoma (PCG) who underwent angle surgery over a 21-year period. METHODS: This was a retrospective study of patients who underwent trabeculotomy, trabeculectomy, or combined trabeculotomy-trabeculectomy for PCG. Visual acuity (VA), surgeries, and underlying cause of visual impairment were recorded and compared. Main outcome measures were final best-corrected good VA (20/20 to 20/50), moderate VA (<20/50 to 20/200), or poor VA (<20/200); age at surgery, sex, laterality, type of initial glaucoma surgery, and number of surgeries were recorded...
April 20, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28430328/outcome-of-various-hydrophobic-acrylic-intraocular-lens-implantations-in-children-with-congenital-cataract
#18
Jaspreet Sukhija, Savleen Kaur, Jagat Ram, Sonam Yangzes, Siddharth Madan, Jitender Jinagal
PURPOSE: To evaluate performance of different intraocular lenses (IOLs) after cataract surgery in children aged less than 2 years with regards to rates of visual axis opacification (VAO). METHODS: This was a retrospective chart review of children <2 years of age undergoing cataract surgery with primary posterior capsulotomy, anterior vitrectomy, and IOL over a period of 5 years with minimum follow-up of 1 year at a tertiary care institute. Children with microphthalmos, persistent fetal vasculature, traumatic cataract, aphakia, secondary IOLs, or any other coexisting ocular disease were excluded...
April 13, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28430286/clinical-presentation-and-outcomes-of-patients-with-acute-rheumatic-fever-and-rheumatic-heart-disease-seen-at-a-tertiary-hospital-setting-in-port-elizabeth-south-africa
#19
Zongezile Masonwabe Makrexeni, Lungile Pepeta
BACKGROUND: The incidence of acute rheumatic fever (ARF) and rheumatic heart disease (RHD) has waned in Western countries, however that is not the situation in developing nations. METHODS: Records were reviewed of patients from the Eastern Cape municipal districts who presented to the Paediatric Cardiology Unit with ARF and RHD from January 2008 to August 2015. RESULTS: Total of 56 patients with ARF/RHD was reviewed. The majority of patients (n = 52) presented for the first time with RHD...
April 20, 2017: Cardiovascular Journal of Africa
https://www.readbyqxmd.com/read/28430115/a-systematic-review-of-3-d-printing-in-cardiovascular-and-cerebrovascular-diseases
#20
Zhonghua Sun, Shen Yuan Lee
OBJECTIVE: The application of 3-D printing has been increasingly used in medicine, with research showing many applications in cardiovascular disease. This systematic review analyzes those studies published about the applications of 3-D printed, patient-specific models in cardiovascular and cerebrovascular diseases. METHODS: A search of PubMed/Medline and Scopus databases was performed to identify studies investigating the 3-D printing in cardiovascular and cerebrovascular diseases...
April 10, 2017: Anatolian Journal of Cardiology
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