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https://www.readbyqxmd.com/read/28231614/risk-factors-for-the-development-of-post-traumatic-stress-disorder-and-coping-strategies-in-mothers-and-fathers-following-infant-hospitalization-in-the-neonatal-intensive-care-unit
#1
Anna Aftyka, Beata Rybojad, Wojciech Rosa, Aleksandra Wróbel, Hanna Karakuła-Juchnowicz
OBJECTIVE: The development of Neonatal Intensive Care Units (NICUs) has increased the survival rate of infants. However, one of the major parental problems is post-traumatic stress disorder (PTSD). The aim of this study was to identify the potential risk factors for the development of PTSD in mothers and fathers following infant hospitalization in the NICU. DESIGN: An observational study covered 125 parents (72 mothers and 53 fathers) of infants aged three to 12 months who were hospitalized in the NICU during the neonatal period...
February 23, 2017: Journal of Clinical Nursing
https://www.readbyqxmd.com/read/28231309/improving-molecular-diagnosis-of-aniridia-and-wagr-syndrome-using-customized-targeted-array-based-cgh
#2
Fiona Blanco-Kelly, María Palomares, Elena Vallespín, Cristina Villaverde, Rubén Martín-Arenas, Camilo Vélez-Monsalve, Isabel Lorda-Sánchez, Julián Nevado, María José Trujillo-Tiebas, Pablo Lapunzina, Carmen Ayuso, Marta Corton
Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases. First-tier genetic testing for newborn with aniridia, to detect 11p13 rearrangements, includes Multiplex Ligation-dependent Probe Amplification (MLPA) and karyotyping. However, neither of these approaches allow obtaining a complete picture of the high complexity of chromosomal deletions and breakpoints in aniridia. Here, we report the development and validation of a customized targeted array-based comparative genomic hybridization, so called WAGR-array, for comprehensive high-resolution analysis of CNV in the WAGR locus...
2017: PloS One
https://www.readbyqxmd.com/read/28231076/congenital-vascular-malformations-of-the-liver-an-association-with-trisomy-21
#3
Mark Davenport
No abstract text is available yet for this article.
March 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28231075/congenital-vascular-malformations-are-associated-with-trisomy-21
#4
Henrik Arnell, Björn Fischler
No abstract text is available yet for this article.
March 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28230890/effect-of-testosterone-replacement-therapy-on-vitamin-d-and-fgf-23-levels-in-congenital-hypogonadism
#5
Cem Haymana, Alper Sonmez, Aydogan Aydogdu, Serkan Tapan, Yalcin Basaran, Coskun Meric, Kamil Baskoy, Abdullah Taslipinar, Mahmut Ilker Yilmaz, Omer Azal
INTRODUCTION: Patients with hypogonadism are at increased risk of cardiac and metabolic diseases and osteoporosis. Vitamin D and Fibroblast growth factor-23 (FGF-23) play role in the regulation of bone mineral metabolism and endothelial functions. Low vitamin D levels are reported in hypogonadism, while there is no data about the effect of testosterone replacement therapy (TRT). We investigated the effect of TRT on vitamin D and FGF-23 levels along with endothelial functions and insulin resistance in hypogonadal patients...
February 23, 2017: Endokrynologia Polska
https://www.readbyqxmd.com/read/28230834/risk-stratification-for-congenital-diaphragmatic-hernia-by-factors-within-24%C3%A2-h-after-birth
#6
K Terui, K Nagata, Y Kanamori, S Takahashi, M Hayakawa, H Okuyama, N Inamura, H Yoshida, T Taguchi, N Usui
OBJECTIVE: To establish a simple risk stratification system for patients with congenital diaphragmatic hernia (CDH) based on postnatal information within 24 h after birth. STUDY DESIGN: A multi-institutional retrospective cohort study was conducted including 348 neonates who had isolated CDH born between 2006 and 2010. Based on the two most powerful variables for 90-day survival selected by multivariate analyses, a risk stratification system was established. RESULTS: Multiple logistic regression analysis identified two adverse prognostic factors: an Apgar score at 1 min (Ap1) of 0-4 (odds ratio (OR) 3...
February 23, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28230720/role-of-vitamin-a-retinoic-acid-in-regulation-of-embryonic-and-adult-hematopoiesis
#7
REVIEW
Ana Cañete, Elena Cano, Ramón Muñoz-Chápuli, Rita Carmona
Vitamin A is an essential micronutrient throughout life. Its physiologically active metabolite retinoic acid (RA), acting through nuclear retinoic acid receptors (RARs), is a potent regulator of patterning during embryonic development, as well as being necessary for adult tissue homeostasis. Vitamin A deficiency during pregnancy increases risk of maternal night blindness and anemia and may be a cause of congenital malformations. Childhood Vitamin A deficiency can cause xerophthalmia, lower resistance to infection and increased risk of mortality...
February 20, 2017: Nutrients
https://www.readbyqxmd.com/read/28230609/adolescent-presentation-of-congenital-tracheoesophageal-fistula
#8
Graciela Wetzler, Iris Jo, Keith Breglio, Mikhail Kazachkov
No abstract text is available yet for this article.
March 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28230599/a-targeted-next-generation-genetic-sequencing-study-on-tetralogy-of-fallot-combined-with-cleft-lip-and-palate
#9
Lin Liu, Haisong Bu, Yifeng Yang, Zhiping Tan, Fei Zhang, Shijun Hu, Tianli Zhao
BACKGROUND: Congenital heart disease (CHD), plus cleft lip and palate (CLP) are currently the most common types of structural malformation in infants. Many genes have been investigated for their involvement in CHD with CLP. Targeted next-generation sequencing can analyze large amounts of genetic information rapidly, and thus address this question. METHODS: The authors designed a targeted, next-generation sequencing gene panel for 455 genes previously implicated in CHD or CLP...
February 22, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28230264/isolated-aneurysms-of-the-membranous-ventricular-septum-without-residual-shunts-systematic-review-and-description-of-3-cases-in-adults
#10
REVIEW
Ali Abdul Jabbar, Omar Mufti, Wojciech Mazur, Muhammad Bilal Quraishi, Bal K Srivastava, Vijay Tivakaran
A ventricular septal defect is the most common congenital cardiac abnormality encountered in infants and children. Many of them survive through adulthood before diagnosis. Two-thirds of the cases involve the membranous part of the septum. In the absence of an interventricular shunt or concomitant cardiac surgery, guidelines for surgical intervention or resection of isolated aneurysms of the membranous septum are not well established. In this report, we discuss a multi-imaging modality approach for the diagnosis and assessment of membranous ventricular septal aneurysms and review the experts' consensuses for follow-up and treatment strategies...
February 23, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28229981/postprocedural-outcomes-and-risk-factors-for-arrhythmias-following-transcatheter-closure-of-congenital-perimembranous-ventricular-septal-defect-a-single-center-retrospective-study
#11
Li-Jian Zhao, Bo Han, Jian-Jun Zhang, Ying-Chun Yi, Dian-Dong Jiang, Jian-Li Lyu
BACKGROUND: Currently, transcatheter closure of perimembranous ventricular septal defect (pmVSD) is a widely accepted therapeutic modality. However, arrhythmias, especially postprocedural heart blocks, are a concern and outcomes are not very clear. This study explored the outcomes and risk factors of arrhythmias associated with transcatheter device closure of pmVSD. METHODS: A total of 395 patients diagnosed with pmVSD who successfully underwent transcatheter intervention between January 2010 and December 2015 in our center were retrospectively reviewed...
2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28229912/mid-diastolic-left-ventricular-volume-and-mass-normal-values-for-coronary-computed-tomography-angiography
#12
Daniel Juneau, Fernanda Erthal, Owen Clarkin, Atif Alzahrani, Ali Alenazy, Alomgir Hossain, Joao R Inacio, Girish Dwivedi, Alexander J Dick, Frank J Rybicki, Benjamin J W Chow
BACKGROUND: The adoption of prospectively ECG-triggered acquisition coronary computed tomography angiography (CTA) has resulted in the inability to measure left ventricle (LV) end-diastolic volume and LV ejection fraction. However other prognostic measures such as LV mass and LV mid-diastolic volume (LVMDV) can still be assessed. The objective of this study is to establish normal reference values for LVMDV and LV mass. METHODS: Left ventricular mid-diastolic volumes and LV mass were prospectively measured in 2647 consecutive 'normal' patients undergoing prospectively ECG-triggered coronary CTA...
February 10, 2017: Journal of Cardiovascular Computed Tomography
https://www.readbyqxmd.com/read/28229514/mutations-in-genes-encoding-polycomb-repressive-complex-2-subunits-cause-weaver-syndrome
#13
Eri Imagawa, Ken Higashimoto, Yasunari Sakai, Chikahiko Numakura, Nobuhiko Okamoto, Satoko Matsunaga, Akihide Ryo, Yoshinori Sato, Masafumi Sanefuji, Kenji Ihara, Yui Takada, Gen Nishimura, Hirotomo Saitsu, Takeshi Mizuguchi, Satoko Miyatake, Mitsuko Nakashima, Noriko Miyake, Hidenobu Soejima, Naomichi Matsumoto
Weaver syndrome is a rare congenital overgrowth disorder caused by heterozygous mutations in EZH2 (enhancer of zeste homolog 2) or EED (embryonic ectoderm development). EZH2 and EED are core components of the polycomb repressive complex 2 (PRC2), which possesses histone methyltransferase activity and catalyzes trimethylation of histone H3 at lysine 27. Here, we analyzed eight probands with clinically suspected Weaver syndrome by whole exome sequencing and identified three mutations: a 25.4-kb deletion partially involving EZH2 and CUL1 (individual 1), a missense mutation (c...
February 22, 2017: Human Mutation
https://www.readbyqxmd.com/read/28229475/first-cases-of-zika-virus-infected-us-blood-donors-outside-states-with-areas-of-active-transmission
#14
Phillip C Williamson, Jeffrey M Linnen, Debra A Kessler, Beth H Shaz, Hany Kamel, Ralph R Vassallo, Valerie Winkelman, Kui Gao, Rainer Ziermann, Juscilene Menezes, Stephen Thomas, Jerry A Holmberg, Sonia Bakkour, Mars Stone, Kai Lu, Graham Simmons, Michael P Busch
BACKGROUND: Zika virus (ZIKV) is transmitted by Aedes mosquitos and can result in severe congenital and adult neurologic abnormalities. ZIKV has rapidly spread northward through Central America and the Caribbean and autochthonous cases have been identified in the continental United States. High rates of ZIKA RNA positivity were detected in blood donors during previous epidemics. ZIKV transmission by transfused blood from healthy donor components has been a growing concern. STUDY DESIGN AND METHODS: Individual-donation aliquots of plasma from volunteer blood donors were tested individually with an investigational Procleix ZIKV assay...
February 23, 2017: Transfusion
https://www.readbyqxmd.com/read/28229397/emerging-causes-of-arbovirus-encephalitis-in-north-america-powassan-chikungunya-and-zika-viruses
#15
REVIEW
Christopher T Doughty, Sigal Yawetz, Jennifer Lyons
Arboviruses are arthropod-borne viruses transmitted by the bite of mosquitoes, ticks, or other arthropods. Arboviruses are a common and an increasing cause of human illness in North America. Powassan virus, Chikungunya virus, and Zika virus are arboviruses that have all recently emerged as increasing causes of neurologic illness. Powassan virus almost exclusively causes encephalitis, but cases are rare, sporadic, and restricted to portions of North America and Russia. Chikungunya virus has spread widely across the world, causing millions of infections...
February 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28229343/a-case-of-pancreaticobiliary-maljunction-with-a-connecting-duct-without-a-long-common-channel
#16
Masataka Kikuyama, Terumi Kamisawa, Sawako Kuruma, Kazuro Chiba, Satomi Koizumi, Taku Tabata, Goro Honda
Pancreaticobiliary maljunction (PBM) is a congenital malformation in which the pancreatic and bile ducts join anatomically outside the duodenal wall, usually forming an abnormally long common channel. In PBM, since the long common channel defeats the effect of the sphincter of Oddi, pancreatobiliary reflux frequently occurs, resulting in high rates of biliary tract cancers. We present the case of a 68-year-old female with advanced gallbladder cancer concomitant with bile duct cancer associated with PBM without biliary dilatation that had an extremely rare configuration showing a connecting duct without a long common channel...
February 22, 2017: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/28229291/a%C3%A2-patient-with-myasthenia-gravis-and-a%C3%A2-large-arachnoid-cyst-report-of-a%C3%A2-case
#17
Mira Bucuk, Iva Gasparovic, Ivan Sonnenschein, Olivio Perkovic
Myasthenia gravis is a chronic autoimmune disease characterized by weakening of voluntary muscles during the day and a marked restitution of function during the night and after rest. The symptoms may worsen over days or weeks, sometimes even in a few hours, and are usually well controlled by appropriate therapy. Arachnoid cysts are congenital or acquired deformities of the arachnoid membrane and are usually too small to cause distinct clinical symptomatology. We describe a case of a 76-year-old myasthenia gravis patient with an arachnoid cyst...
February 22, 2017: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/28229185/hamate-and-pisiform-coalition-a-case-report-and-introduction-to-the-carpal-c-sign-on-lateral-radiograph
#18
Jonathan Cortese, Marc Soubeyrand, Leo Razakamanantsoa, Marie-France Bellin, Maud Creze
Hamate-pisiform coalition is an exceptional form of carpal coalition. Case reports are essential to gain a better understanding of this variant. We report a case of congenital bilateral hamate-pisiform coalition in a 20-year-old male discovered in the context of a right wrist trauma. Radiographs also revealed a bilateral scapholunate diastasis. Clinical examination and radiological findings suggested that the right wrist scapholunate diastasis was related to scapholunate instability. Left wrist scapholunate diastasis could be related to (1) a pathological feature or (2) a normal variant associated with hamate-pisiform coalition...
February 22, 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/28229080/small-bowel-obstruction-due-to-a-giant-meckel-s-diverticulum
#19
Andreas Minh Luu, Kirsten Meurer, Torsten Herzog, Waldemar Uhl, Andrea Tannapfel, Chris Braumann
BACKGROUND: Meckel's diverticulum is the most common congenital anomaly of the gastrointestinal tract, with an average length of 3 cm. Complications occur in 6.4% and most commonly include inflammation and gastrointestinal bleeding. Preoperative diagnosis is demanding and achieved in 4%. CASE REPORT: A 34-year-old otherwise healthy patient presented with an acute abdomen due to small bowel obstruction. Computed tomography scan could not identify the underlying cause...
December 2016: Visceral Medicine
https://www.readbyqxmd.com/read/28228880/crossed-nonfused-renal-ectopia-with-variant-blood-vessels-a-rare-congenital-renal-anomaly
#20
Nawal Ebrahim Al-Hamar, Khalid Khan
Crossed renal ectopia is a rare congenital anomaly, where one of the kidneys crosses the midline and lies opposite to the site of its normal ureteral insertion. Ninety percent of crossed ectopic kidneys are fused to their ipsilateral uncrossed kidney. Crossed renal ectopia without fusion is rare. We present the case of a 53-year-old male with an unusual incidental finding of crossed nonfused renal ectopia, with the left ectopic kidney lying anterior to the right kidney without fusion. The ectopic kidney had dual arterial supply: one from the aorta and another from the right renal artery...
March 2017: Radiology case reports
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