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https://www.readbyqxmd.com/read/28434210/changes-in-perinatal-hospital-deaths-occurring-outside-the-neonatal-intensive-care-unit-over-a-decade
#1
Amélie Du Pont-Thibodeau, Keith Barrington, Catherine Taillefer, Annie Janvier
AIM: Perinatal deaths occurring outside the neonatal intensive care unit (NICU) are rarely recorded in outcome studies, despite having a direct impact on perinatal statistics. Our aim was to investigate the timing and modes of perinatal deaths that occurred outside the NICU and changes over time. METHOD: We reviewed all perinatal deaths from 22 weeks of gestation onwards, without NICU admissions, during two periods in a Canadian tertiary mother and baby hospital and categorised deaths according to nine specific categories...
April 23, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28434134/pregnancy-outcomes-following-in-utero-exposure-to-lamotrigine-a-systematic-review-and-meta-analysis
#2
REVIEW
Gali Pariente, Tom Leibson, Talya Shulman, Thomasin Adams-Webber, Eran Barzilay, Irena Nulman
INTRODUCTION: Lamotrigine is used in pregnancy to control epilepsy and mood disorders. The reproductive safety of this widely used drug remains undefined and may represent a significant public health concern. OBJECTIVE: We aimed to perform a systematic review and meta-analysis of existing knowledge related to malformation rates and maternal-neonatal outcomes after in utero exposure to monotherapy with lamotrigine. METHODS: Relevant studies were identified through systematic searches conducted in MEDLINE (Ovid), Embase (Ovid), CENTRAL (Ovid), and Web of Science (Thomson Reuters) from database inception to July 2016; no language or date restrictions were applied...
April 22, 2017: CNS Drugs
https://www.readbyqxmd.com/read/28434104/mullerian-dysgenesis-a-critical-review-of-the-literature
#3
REVIEW
Souzana Choussein, Dimitrios Nasioudis, Dimitrios Schizas, Konstantinos P Economopoulos
PURPOSE: To present an update of the genetic, clinical, diagnostic, and therapeutic aspects of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. METHODS: Studies were considered eligible if they have evaluated patients with MRKH syndrome. Eligible articles were identified by a search of MEDLINE bibliographical database from 1950 to August 2016. A purely descriptive approach was adopted concerning all outcomes examined by the individual studies. RESULTS: MRKH syndrome is defined as congenital aplasia of the upper vagina and impairment of uterine development in normal 46XX females...
April 22, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28434050/prevalence-of-toxoplasma-gondii-infection-in-hiv-infected-patients-and-food-animals-and-direct-genotyping-of-t-gondii-isolates-southern-ghana
#4
Faustina Pappoe, Weisheng Cheng, Lin Wang, Yuanling Li, Dorcas Obiri-Yeboah, Samuel Victor Nuvor, Henock Ambachew, Xiaodong Hu, Qingli Luo, Deyong Chu, Yuanhong Xu, Jilong Shen
Toxoplasma gondii is of public health and veterinary importance causing severe diseases in immunocompromised individuals including HIV/AIDS patients and in congenital cases and animals. There is limited information on the epidemiology of T. gondii infection in humans, particularly HIV patients and food animals and the parasite genotypes in Ghana. A total of 394 HIV-infected patients from three hospitals were screened for T. gondii anti-IgG and IgM using ELISA. DNAs from blood samples of seropositve participants and 95 brain tissues of food animals were PCR assayed to detect Toxoplasma gra6...
April 22, 2017: Parasitology Research
https://www.readbyqxmd.com/read/28433712/common-phox2b-poly-alanine-contractions-impair-ret-gene-transcription-predisposing-to-hirschsprung-disease
#5
Eleonora Di Zanni, Annalisa Adamo, Elga Belligni, Margherita Lerone, Giuseppe Martucciello, Girolamo Mattioli, Alessio Pini Prato, Roberto Ravazzolo, Margherita Silengo, Tiziana Bachetti, Isabella Ceccherini
HSCR is a congenital disorder of the enteric nervous system, characterized by the absence of neurons along a variable length of the gut resulting from loss-of-function RET mutations. Congenital Central Hypoventilation Syndrome (CCHS) is a rare neurocristopathy characterized by impaired response to hypercapnia and hypoxemia caused by heterozygous mutations of the PHOX2B gene, mostly polyalanine (polyA) expansions but also missense, nonsense, and frameshift mutations, while polyA contractions are common in the population and believed neutral...
April 19, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28433574/serodiagnosis-of-toxoplasmosis-the-effect-of-measurement-of-igg-avidity-in-pregnant-women-in-rabat-in-morocco
#6
Majda Laboudi, Abderrahim Sadak
BACKGROUND: The diagnosis of toxoplasmosis in pregnant women during the early first trimester of pregnancy is very important for preventing congenital infection of the fetus; it will not only prevent the risk of transmitting the infection to the fetus but it will also enable to give these women a preventive treatment. In this study, the avidity test was performed on pregnant women during their first prenatal visit at the National Institute of Hygiene in Rabat, Morocco. FINDINGS: One hundred and twenty-eight sera samples were collected from 128 pregnant women between august 2015 and June 2016; these women were chosen retrospectively and were in their first 4 months of pregnancy...
April 19, 2017: Acta Tropica
https://www.readbyqxmd.com/read/28433477/novel-mutations-in-the-c-terminal-region-of-gmppb-causing-limb-girdle-muscular-dystrophy-overlapping-with-congenital-myasthenic-syndrome
#7
Sushan Luo, Shuang Cai, Susan Maxwell, Dongyue Yue, Wenhua Zhu, Kai Qiao, Zhen Zhu, Lei Zhou, Jianying Xi, Jiahong Lu, David Beeson, Chongbo Zhao
Mutations in the GMPPB gene may underlie both limb girdle muscular dystrophy (LGMD) and congenital myasthenic syndrome (CMS). Forty-one cases have been reported to date and hotspot mutations are emerging in the Caucasian population. Clinical and pathological features of 5 patients with compound heterozygous GMPPB mutations were collected and retrospectively reviewed. In vitro functional analysis was performed to investigate the pathogeneity of GMPPB variants. The patients presented with proximal limb weakness in their first to second decades...
March 10, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28433207/correlation-of-frontal-sinus-recess-anatomy-with-ethnicity-gender-and-pathology
#8
Laura K House, Scott P Stringer, Samantha Seals
PURPOSE: Research on frontal sinus cells has been conflicting regarding relationship between frontal sinus cells and frontal sinus disease. There are no published studies regarding gender differences in frontal sinus disease. No comparisons between African Americans and Caucasians and frontal sinus disease have been published. This study attempts to define the above relationships as well as the relationship between number and types of cells and disease. METHODS: A retrospective chart review was performed on sinus CT scans done from 2003 to 2011 at an academic medical center...
April 12, 2017: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/28432995/eye-disorder-differentiates-seasonality-outcomes-in-persons-with-severe-visual-impairment
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
(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
#17
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
#18
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
#19
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
#20
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
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