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https://www.readbyqxmd.com/read/28346712/comparison-of-three-methods-to-analyze-detrusor-contraction-during-micturition-in-men-over-50-years-of-age
#1
Celine Ten Donkelaar S, Peter Rosier, Laetitia de Kort
AIMS: To grade detrusor voiding contraction three parameters are used: the Schäfer pressure-flow nomogram (LinPURR), the bladder contractility index (BCI) and the maximum Watt factor (Wmax ). Because these methods to quantify detrusor contraction and/or to diagnose detrusor underactivity (DU) have not yet been mutually compared, this study compares these three methods of grading detrusor contraction. MATERIALS AND METHODS: Evaluated were 1420 urodynamic pressure-flow studies from 1222 men (aged >50 years) with lower urinary tract symptoms (LUTS)...
March 27, 2017: Neurourology and Urodynamics
https://www.readbyqxmd.com/read/28346476/reduced-dosage-of-%C3%AE-catenin-provides-significant-rescue-of-cardiac-outflow-tract-anomalies-in-a-tbx1-conditional-null-mouse-model-of-22q11-2-deletion-syndrome
#2
Silvia E Racedo, Erica Hasten, Mingyan Lin, Gnanapackiam Sheela Devakanmalai, Tingwei Guo, Ertugrul M Ozbudak, Chen-Leng Cai, Deyou Zheng, Bernice E Morrow
The 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome; DiGeorge syndrome) is a congenital anomaly disorder in which haploinsufficiency of TBX1, encoding a T-box transcription factor, is the major candidate for cardiac outflow tract (OFT) malformations. Inactivation of Tbx1 in the anterior heart field (AHF) mesoderm in the mouse results in premature expression of pro-differentiation genes and a persistent truncus arteriosus (PTA) in which septation does not form between the aorta and pulmonary trunk...
March 27, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28346292/bilateral-labyrinthine-and-internal-auditory-canal-enhancement-in-an-infant-with-severe-labyrinthine-dysplasia-a-previously-unreported-phenomenon
#3
Charles L Anzalone, Mai Lan Ho, Neil S Patel, Lisa A Schimmenti, Melissa D DeJong, Matthew L Carlson
OBJECTIVE: To describe a novel case of congenital profound bilateral sensorineural hearing loss in a patient with bilateral nodular internal auditory canal and labyrinthine enhancement and temporal bone dysplasia. PATIENTS: A 76-day-old female was referred to the authors' center for evaluation of congenital deafness. Behavioral observations and objective audiometric evaluation demonstrated bilateral profound sensorineural hearing loss and a comprehensive multidisciplinary evaluation identified compound heterozygous pathogenic variants in MYO7A, a gene associated with Usher Syndrome Type 1B or DFNB2...
March 24, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28346274/the-effect-of-disease-activity-on-birth-outcomes-in-a-nationwide-cohort-of-women-with-moderate-to-severe-inflammatory-bowel-disease
#4
Heidi Kammerlander, Jan Nielsen, Jens Kjeldsen, Torben Knudsen, Sonia Friedman, Bente Nørgård
BACKGROUND: Active inflammatory bowel disease (IBD) during conception and pregnancy may increase the risk of adverse birth outcomes. Former studies have examined heterogeneous groups of women with varying degrees of IBD severity. We aimed to examine the effect of active IBD on birth outcomes in a more homogeneous group of women with a moderate to severe disease course. Since in Denmark, moderate to severe IBD is an indication for use of anti-tumor necrosis factor-α therapy, we examined all women who used anti-tumor necrosis factor therapy during pregnancy...
March 24, 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28345573/clinical-correlation-of-imaging-findings-in-congenital-cranial-dysinnervation-disorders-involving-abducens-nerve
#5
Chanchal Gupta, Pradeep Sharma, Rohit Saxena, Ajay Garg, Sanjay Sharma
PURPOSE: High-resolution magnetic resonance imaging (MRI) of intracranial parts of sixth nerve and seventh nerve and the extraocular muscles (EOMs) in orbit to correlate the clinical characteristics in patients with two special forms of strabismus in congenital cranial dysinnervation disorders which are Duane's retraction syndrome (DRS) and Mobius syndrome. MATERIALS AND METHODS: Morphological analysis by 3T MRI of orbit (using surface coils) and brain (using 32 channel head coil) was performed on 6 patients with clinical DRS (1 bilateral), 2 cases with Mobius syndrome, and 1 case with congenital sixth nerve palsy...
February 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28344955/association-of-citalopram-with-congenital-anomalies-a-meta-analysis
#6
Hyun-Hye Kang, Ki Hoon Ahn, Soon-Cheol Hong, Bo Yong Kwon, Eun Hee Lee, Ji-Sung Lee, Min-Jeong Oh, Hai-Joong Kim
OBJECTIVE: The antenatal use of citalopram, a widely prescribed selective serotonin reuptake inhibitor, has been suspected to be associated with congenital, particularly cardiac, anomalies. This study aimed to prove the association between citalopram use and congenital anomalies. METHODS: We searched the English literature from July 1998 to July 2015, by using the search terms ' citalopram', ' pregnancy', ' birth defects', ' congenital anomalies', and ' malformations' in PubMed, Embase, Web of Science, and the Cochrane Library...
March 2017: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/28344916/pentalogy-of-cantrell-is-echocardiography-sufficient-in-the-neonatal-period
#7
Elke Zani-Ruttenstock, Augusto Zani, Osami Honjo, Priscilla Chiu
Pentalogy of Cantrell is a rare syndrome that is characterized by varying degrees of midline wall defects and congenital cardiac anomalies. A left ventricular diverticulum (LVD) is defined as partial ectopia cordis, can be part of the pentalogy of Cantrell, and can put the patient at risk of severe complications. Early diagnosis and ligation/resection of the LVD is important to prevent complications. We report on a case of pentalogy of Cantrell, in which a LVD was diagnosed only at 2 months of age despite preceding pre- and postnatal echocardiography...
January 2017: European Journal of Pediatric Surgery Reports
https://www.readbyqxmd.com/read/28344020/the-incidence-of-isolated-penile-torsion-in-north-india-a-study-of-5-018-male-neonates
#8
Amilal Bhat, Mahakshit Bhat, Vinay Kumar, Suresh Goyal, Akshita Bhat, Madhu Patni
OBJECTIVE: Congenital penile torsion is a three-dimensional deformity with helical rotation of the distal corporal bodies with the penile crurae remaining fixed to the pubic rami. The first case of congenital penile torsion (hypospadias) was described in 1857. Isolated penile torsion is an under-reported anomaly. The reported incidence of isolated penile torsion is 1.7-27% and severe torsion is 0.7%. There are no studies available from Indian subcontinent on the incidence of isolated penile torque...
March 1, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28341737/abnormal-bone-marrow-microenvironment-contributes-to-hematopoietic-dysfunction-in-fanconi-anemia
#9
Yuan Zhou, Yongzheng He, Wen Xing, Peng Zhang, Hui Shi, Shi Chen, Jun Shi, Jie Bai, Steven D Rhodes, Fengkui Zhang, Jin Yuan, Xianlin Yang, Xiaofan Zhu, Yan Li, Helmut Hanenberg, Mingjiang Xu, Kent A Robertson, Weiping Yuan, Grzegorz Nalepa, Tao Cheng, D Wade Clapp, Feng-Chun Yang
Fanconi anemia is a complex heterogeneous genetic disorder with a high incidence of bone marrow failure, clonal evolution to acute myeloid leukemia and mesenchymal-derived congenital anomalies. Increasing evidence in Fanconi anemia and other genetic disorders points towards an interdependence of skeletal and hematopoietic development, yet the impact of the marrow microenvironment in the pathogenesis of the bone marrow failure in Fanconi anemia remains unclear. Here we demonstrated that mice with double knockout of both Fancc and Fancg gene had decreased bone formation at least partially due to impaired osteoblast differentiation from mesenchymal stem/progenitor cells...
March 24, 2017: Haematologica
https://www.readbyqxmd.com/read/28341515/computerised-interpretation-of-fetal-heart-rate-during-labour-infant-a-randomised-controlled-trial
#10
(no author information available yet)
BACKGROUND: Continuous electronic fetal heart-rate monitoring is widely used during labour, and computerised interpretation could increase its usefulness. We aimed to establish whether the addition of decision-support software to assist in the interpretation of cardiotocographs affected the number of poor neonatal outcomes. METHODS: In this unmasked randomised controlled trial, we recruited women in labour aged 16 years or older having continuous electronic fetal monitoring, with a singleton or twin pregnancy, and at 35 weeks' gestation or more at 24 maternity units in the UK and Ireland...
March 21, 2017: Lancet
https://www.readbyqxmd.com/read/28341497/congenital-pseudarthrosis-of-the-clavicle-a-report-on-27-cases
#11
Giovanni Luigi Di Gennaro, Mattia Cravino, Alessandro Martinelli, Eleonora Berardi, Anish Rao, Stefano Stilli, Giovanni Trisolino
HYPOTHESIS: We aimed to report our experience in treating congenital pseudarthrosis of the clavicle (CPC). MATERIALS AND METHODS: A retrospective search of the archive of our institute was performed; 27 cases (12 male and 15 female patients) affected by CPC were recorded. Among these patients, 19 underwent surgical intervention for cosmetic appearance between 1960 and 2015. Of 19 patients, 18 were treated by pseudarthrosis resection and stabilization with a Kirschner wire, whereas in 1 case, the osteosynthesis was performed with a plate...
March 2017: Journal of Shoulder and Elbow Surgery
https://www.readbyqxmd.com/read/28341055/obstetric-care-for-women-with-thalassemia
#12
REVIEW
Terence T Lao
Thalassemia is the commonest monogenic disease and manifests as severe anemia. It is increasingly encountered outside the Mediterranean region, Africa, Middle East, and Southeast Asia because of immigration. Pregnancy, previously uncommon in patients with homozygous β-thalassemia, is encountered increasingly because of improved management and assisted reproduction technology; however, preconceptional problems that include anemia, iron overload, cardiac dysfunction, thromboembolism, alloimmunization, infections, and endocrine and bone disorders, could influence maternal and obstetric outcome...
February 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28339567/role-of-biomechanical-forces-in-hyperfiltration-mediated-glomerular-injury-in-congenital-anomalies-of-the-kidney-and-urinary-tract
#13
Tarak Srivastava, Ganesh Thiagarajan, Uri S Alon, Ram Sharma, Ashraf El-Meanawy, Ellen T McCarthy, Virginia J Savin, Mukut Sharma
Congenital anomalies of the kidney and urinary tract (CAKUT) including solitary kidney constitute the main cause of progressive chronic kidney disease (CKD) in children. Children born with CAKUT develop signs of CKD only during adolescence and do not respond to renin-angiotensin-aldosterone system blockers. Early cellular changes underlying CKD progression to end-stage renal disease by early adulthood are not well understood. The mechanism of maladaptive hyperfiltration that occurs from loss of functional nephrons, including solitary kidney, is not clear...
January 17, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28339500/detecting-congenital-malformations-lessons-learned-from-the-mpepu-study-botswana
#14
Gbolahan Ajibola, Rebecca Zash, Roger L Shapiro, Oganne Batlang, Kerapetse Botebele, Kara Bennett, Florence Chilisa, Erik von Widenfelt, Joseph Makhema, Shahin Lockman, Lewis B Holmes, Kathleen M Powis
INTRODUCTION: A large and increasing number of HIV-infected women are conceiving on antiretroviral treatment (ART). While most antiretrovirals are considered safe in pregnancy, monitoring for rare pregnancy and infant adverse outcomes is warranted. METHODS: We conducted a retrospective secondary analysis nested within a clinical trial of infant cotrimoxazole vs. placebo prophylaxis in Botswana (the Mpepu Study). Infants were examined at birth, and at least every 3 months through 18 months of age...
2017: PloS One
https://www.readbyqxmd.com/read/28338586/towards-microsurgical-correction-of-cleft-lip-ex-utero-via-restoration-of-craniofacial-developmental-programs
#15
Xue Dong, Wilmina N Landford, James Hart, Maurizio Risolino, Omer Kaymakcalan, Julia Jin, Yoshiko Toyoda, Elisabetta Ferretti, Licia Selleri, Jason A Spector
BACKGROUND: Cleft Lip with or without Palate (CL/P) is present in approximately 1 in 500-700 live births, representing the most common congenital craniofacial anomaly. Previously, we developed a unique murine model with compound Pbx deficiency that exhibits fully penetrant CL/P. To investigate the possibility of tissue repair at an early gestational stage, we designed a minimally invasive surgical approach suitable for intrauterine repair using Wnt9b-soaked collagen microspheres to restore craniofacial developmental programs for cleft correction...
March 3, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28338118/unusual-discovery-after-an-examination-for-abdominal-pain-abernethy-1b-malformation-and-liver-adenomatosis-a-case-report
#16
Romeo Ioan Chira, Adriana Calauz, Simona Manole, Simona Valean, Petru Adrian Mircea
Congenital extrahepatic portosystemic shunt (Abernethy malformation) is a rare condition characterized by developmental abnormalities of the portal venous system resulting in the diversion of the portal blood from the liver to the systemic venous system through a complete or partial shunt of the portomesenteric blood. We report the case of an 18 year-old female examined for abdominal pain, presenting cholestasis syndrome and an elevated serum aspartate aminotransferase level. Liver ultrasound examination revealed the absence of the portal vein with a complete extrahepatic shunt of the portal blood, multiple focal liver lesions, and multiple associated vascular anomalies...
March 2017: Journal of Gastrointestinal and Liver Diseases: JGLD
https://www.readbyqxmd.com/read/28336287/a-unique-case-of-pentaorchidism
#17
Amanda Myers, Bradley Morganstern, Ronnie Fine
Polyorchidism is a rare congenital anomaly with less than 200 case reports in literature. Triorchidism - three testicles - is the most common presentation. We present an unusual case of a patient who was diagnosed with five testicles by magnetic resonance imaging. To the best of our knowledge, this rare presentation has not previously been reported in the medical literature.
March 20, 2017: Urology
https://www.readbyqxmd.com/read/28336264/genomic-imbalances-in-syndromic-congenital-heart-disease
#18
Miriam C Molck, Milena Simioni, Társis P Vieira, Ilária C Sgardioli, Fabíola P Monteiro, Josiane Souza, Agnes C Fett-Conte, Têmis M Félix, Isabella L Monlléo, Vera Lúcia Gil-da-Silva-Lopes
OBJECTIVE: To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). METHODS: 78 patients negative for the 22q11.2 deletion, previously screened by fluorescence in situ hybridization (FISH) and/or multiplex ligation probe amplification (MLPA) were tested by chromosomal microarray analysis (CMA). RESULTS: Clinically significant copy number variations (CNVs ≥300kb) were identified in 10% (8/78) of cases...
March 20, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28334964/mutations-in-the-leukemia-inhibitory-factor-receptor-lifr-gene-and-lifr-deficiency-cause-urinary-tract-malformations
#19
Anne Kosfeld, Frank Brand, Anna-Carina Weiss, Martin Kreuzer, Michaela Goerk, Helge Martens, Stephanie Schubert, Anne-Kathrin Schäfer, Vera Riehmer, Imke Hennies, Jan Hinrich Bräsen, Lars Pape, Kerstin Amann, Lars Krogvold, Anna Bjerre, Christoph Daniel, Andreas Kispert, Dieter Haffner, Ruthild G Weber
Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease in children. As CAKUT is a genetically heterogeneous disorder and most cases are genetically unexplained, we aimed to identify new CAKUT causing genes. Using whole-exome sequencing and trio-based de novo analysis, we identified a novel heterozygous de novo frameshift variant in the leukemia inhibitory factor receptor (LIFR) gene causing instability of the mRNA in a patient presenting with bilateral CAKUT and requiring kidney transplantation at one year of age...
March 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28333155/network-analysis-a-novel-method-for-mapping-neonatal-acute-transport-patterns-in-california
#20
S N Kunz, J A F Zupancic, J Rigdon, C S Phibbs, H C Lee, J B Gould, J Leskovec, J Profit
OBJECTIVE: The objectives of this study are to use network analysis to describe the pattern of neonatal transfers in California, to compare empirical sub-networks with established referral regions and to determine factors associated with transport outside the originating sub-network. STUDY DESIGN: This cross-sectional database study included 6546 infants <28 days old transported within California in 2012. After generating a graph representing acute transfers between hospitals (n=6696), we used community detection techniques to identify more tightly connected sub-networks...
March 23, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
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