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https://www.readbyqxmd.com/read/28874154/the-center-for-epidemiologic-studies-depression-scale-is-an-adequate-screening-instrument-for-depression-and-anxiety-disorder-in-adults-with-congential-heart-disease
#1
Ju Ryoung Moon, June Huh, Jinyoung Song, I-Seok Kang, Seung Woo Park, Sung-A Chang, Ji-Hyuk Yang, Tae-Gook Jun
BACKGROUND: The Center for Epidemiological Studies Depression Scale (CES-D) is an instrument that is commonly used to screen for depression in patients with chronic disease, but the characteristics of the CES-D in adults with congenital heart disease (CHD) have not yet been studied. The aim of this study was to investigate the criterion validities and the predictive powers of the CES-D for depression and anxiety disorders in adults with CHD. METHODS: Two hundred patients were screened with the CES-D and secondarily interviewed with a diagnostic instrument, i...
September 5, 2017: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/28869276/amniocentesis-and-chorionic-villus-sampling-for-prenatal-diagnosis
#2
REVIEW
Zarko Alfirevic, Kate Navaratnam, Faris Mujezinovic
BACKGROUND: During pregnancy, fetal cells suitable for genetic testing can be obtained from amniotic fluid by amniocentesis (AC), placental tissue by chorionic villus sampling (CVS), or fetal blood. A major disadvantage of second trimester amniocentesis is that the results are available relatively late in pregnancy (after 16 weeks' gestation). Earlier alternatives are chorionic villus sampling (CVS) and early amniocentesis, which can be performed in the first trimester of pregnancy. OBJECTIVES: The objective of this review was to compare the safety and accuracy of all types of AC (i...
September 4, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28716319/establishing-a-multidisciplinary-approach-to-the-management-of-neurologic-disease-affecting-the-urinary-tract
#3
REVIEW
Shree Agrawal, Ravi R Agrawal, Hadley M Wood
Neurologic diseases often affect the urinary tract and may be congential or acquired. The progressive nature of many neurologic diseases necessitates routine surveillance and treatment with a multidisciplinary approach. Urologic treatments may interact with pharmacologic or procedural interventions planned by other specialists, mandating close coordination of care and communication among providers. Primary care and nursing often can serve as the quarterbacks of the multidisciplinary team by identifying when a slowly progressive condition warrants further investigation and management by specialists...
August 2017: Urologic Clinics of North America
https://www.readbyqxmd.com/read/28624326/randomized-trial-on-illuminated-microcatheter-circumferential-trabeculotomy-versus-conventional-trabeculotomy-in-congenital-glaucoma
#4
RANDOMIZED CONTROLLED TRIAL
Jyoti Shakrawal, Shveta Bali, Talvir Sidhu, Saurabh Verma, Ramanjit Sihota, Tanuj Dada
PURPOSE: To compare 1-year outcomes of illuminated microcatheter-assisted circumferential trabeculotomy (IMCT) vs conventional partial trabeculotomy (CPT) for primary congenital glaucoma (PCG). DESIGN: Randomized clinical trial. METHODS: Forty eyes of 31 patients with unilateral or bilateral primary congenital glaucoma aged less than 2 years were randomized to undergo IMCT (20 eyes) or CPT (20 eyes). Primary outcome measure was intraocular pressure (IOP) reduction...
August 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28592017/-a-case-of-severe-congential-neutropenia-induced-by-ela2-gene-mutation
#5
W H Zhao, Y Hua, Q Sun
No abstract text is available yet for this article.
June 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28472301/new-gain-of-function-mutation-shows-cacna1d-as-recurrently-mutated-gene-in-autism-spectrum-disorders-and-epilepsy
#6
Alexandra Pinggera, Luisa Mackenroth, Andreas Rump, Jens Schallner, Filippo Beleggia, Bernd Wollnik, Jörg Striessnig
CACNA1D encodes the pore-forming α1-subunit of Cav1.3, an L-type voltage-gated Ca2+-channel. Despite the recent discovery of two de novo missense gain-of-function mutations in Cav1.3 in two individuals with autism spectrum disorder (ASD) and intellectual disability CACNA1D has not been considered a prominent ASD-risk gene in large scale genetic analyses, since such studies primarily focus on likely-disruptive genetic variants. Here we report the discovery and characterization of a third de novo missense mutation in CACNA1D (V401L) in a patient with ASD and epilepsy...
August 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28390414/factors-associated-with-recovery-from-1%C3%A2-minute-apgar-score-4-in-live-singleton-term-births-an-analysis-of-malaysian-national-obstetrics-registry-data-2010-2012
#7
Ravichandran Jeganathan, Shamala D Karalasingam, Julia Hussein, Pascale Allotey, Daniel D Reidpath
BACKGROUND: The neonatal Apgar score at 5 min has been found to be a better predictor of outcomes than the Apgar score at 1 min. A baby, however, must pass through the first minute of life to reach the fifth. There has been no research looking at predictors of recovery (Apgar scores ≥7) by 5 min in neonates with 1 min Apgar scores <4. METHODS: An analysis of observational data was conducted using live, singleton, term births recorded in the Malaysian National Obstetrics Registry between 2010 and 2012...
April 8, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28326677/implantation-and-positioning-of-a-transcutaneous-magnetic-bone-conduction-hearing-system-for-children-with-microtia-in-preparation-for-auricular-reconstruction
#8
S Sharma, N Bulstrode, A Marshall
No abstract text is available yet for this article.
March 22, 2017: Clinical Otolaryngology
https://www.readbyqxmd.com/read/28138191/intestinal-obstruction-due-to-congenital-malrotation-complicating-a-multiple-pregnancy-a-rare-case-report
#9
Yuzhu Yin, Chuo Li, Chengfang Xu, Lingling Wu, Ni Deng, Hongying Hou, Bin Wu
Intestinal obstruction due to congenital intestinal malrotation is usually diagnosed in neonates but may, in rare cases, occur during pregnancy. The absence of specific symptoms in combination with its low incidence makes timely detection of intestinal malrotation-related obstruction difficult in expectant mothers. We present a rare case of a 23-year-old woman with a twin pregnancy following in vitro fertilization-embryo transfer (IVF-ET) who presented with symptoms of intestinal obstruction at 22+4 weeks of gestation...
February 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28079678/sound-localization-in-patients-with-congenital-unilateral-conductive-hearing-loss-with-a-transcutaneous-bone-conduction-implant
#10
Erich Vyskocil, Rudolfs Liepins, Alexandra Kaider, Michaela Blineder, Sasan Hamzavi
OBJECTIVE: There is no consensus regarding the benefit of implantable hearing aids in congenital unilateral conductive hearing loss (UCHL). This study aimed to measure sound source localization performance in patients with congenital UCHL and contralateral normal hearing who received a new bone conduction implant. STUDY DESIGN: Evaluation of within-subject performance differences for sound source localization in a horizontal plane. SETTING: Tertiary referral center...
March 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/27433255/ultrasound-diagnosis-of-bilateral-cataracts-in-a-fetus-with-possible-cerebro-ocular-congential-muscular-dystrophy-during-the-routine-second-trimester-anomaly-scan
#11
Alexandra Drought, Ruwan Wimalasundera, Susan Holder
The finding of bilateral congenital cataracts in the fetus is rare. We report bilateral congenital cataracts detected during the routine second trimester anomaly scan, which subsequently were found to be associated with other congenital anomalies and the parents opted for a termination of pregnancy. At post-mortem, Muscle-Eye Brain disease or Walker-Warburg Syndrome was considered likely, which are autosomal recessive congenital muscular dystrophy disorders associated with cerebral, cerebellar, muscle and eye anomalies...
August 2015: Ultrasound: Journal of the British Medical Ultrasound Society
https://www.readbyqxmd.com/read/27350828/mechanisms-of-interstrand-dna-crosslink-repair-and-human-disorders
#12
REVIEW
Satoru Hashimoto, Hirofumi Anai, Katsuhiro Hanada
Interstrand DNA crosslinks (ICLs) are the link between Watson-Crick strands of DNAs with the covalent bond and prevent separation of DNA strands. Since the ICL lesion affects both strands of the DNA, the ICL repair is not simple. So far, nucleotide excision repair (NER), structure-specific endonucleases, translesion DNA synthesis (TLS), homologous recombination (HR), and factors responsible for Fanconi anemia (FA) are identified to be involved in ICL repair. Since the presence of ICL lesions causes severe defects in transcription and DNA replication, mutations in these DNA repair pathways give rise to a various hereditary disorders...
2016: Genes and Environment: the Official Journal of the Japanese Environmental Mutagen Society
https://www.readbyqxmd.com/read/27292716/epas1-p-m535t-mutation-in-a-bulgarian-family-with-congenital-erythrocytosis
#13
Tzvetan Alaikov, Milena Ivanova, Velizar Shivarov
OBJECTIVES: In the last decade the identification of germline mutations in several genes such as EPOR, VHL, EGLN1, and EPAS1, helped the definition of several different subtypes of familial (congenital) erythrocytosis. Being rare disorders these entities often remain unrecognized or misdiagnosed, which necessitates the extensive reporting of newly identified cases. METHODS: We applied a genetic approach including whole exome sequencing and Sanger sequencing for the identification of the causative germline mutation in a Bulgarian family with congential erythrocytosis...
December 2016: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/27044215/-effectiveness-of-ilizarov-technique-in-treatment-of-old-dislocation-of-radial-head
#14
Yujing Cao, Yang Li, Xinwu Ming, Xinyue Ming, Keda Fu, Huijuan Lian, Shouren Shen, Hailiang Dong
OBJECTIVE: To explore the effectiveness of modified Ilizarov semi-ring external fixator combined with an ulnar osteotomy lengthening in the treatment of old dislocation of the radial head in children. METHODS: A retrospective analysis was made on the data of 14 patients with old dislocation of the radial head treated by the modified Ilizarov semi-ring external fixator combined with ulnar osteotomy lengthening between March 2012 and January 2015. The age ranged from 2 to 13 years (mean, 7...
December 2015: Chinese Journal of Reparative and Reconstructive Surgery
https://www.readbyqxmd.com/read/26631416/optimizing-age-of-cytomegalovirus-screening-and-vaccination-to-avert-congenital-disease-in-the-us
#15
Jorge A Alfaro-Murillo, Jeffrey P Townsend, Alison P Galvani
Cytomegalovirus (CMV) infection is the leading cause of congenital cognitive deficit, visual impairment and hearing loss in the US. Clinical trials are underway to evaluate the efficacy of CMV vaccine candidates in seronegative females. The optimal age of such vaccination depends on the interplay among age-specific transmission dynamics, vaccine efficacy and vaccine waning. We developed an age-structured model of CMV transmission dynamics in the US and estimated age-specific transmission rates of CMV based on age-stratified CMV prevalence, congenital infections per birth, breastfeeding patterns and demographic data...
January 4, 2016: Vaccine
https://www.readbyqxmd.com/read/26538103/minimally-invasive-ivor-lewis-oesophagogastrectomy-in-a-patient-with-situs-inversus-totalis%C3%A2
#16
Gopal Singh, Joseph Costa, Marc Bessler, Joshua Sonett
Situs inversus totalis (SIT) is a rare congenital condition in which the internal organs of the thoracic and abdominal cavities experience a right-to-left reflection across the sagittal plane. We describe a case of locally advanced adenocarcinoma of the oesophagus treated with minimally invasive oesophagectomy using a laparoscopic and left video-assisted thoracoscopic surgery approach in a patient with situs inversus totalis.
February 2016: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/25878418/primary-squamous-cell-carcinoma-of-bladder-exstrophy-in-an-adult
#17
Suresh Bhat, Manjunatha Sathyanarayanaprasad, Fredrick Paul
Exstrophy of the urinary bladder is a rare congential anomaly. The most common malignancy is an adenocarcinoma in these patients. Squamous cell carcinoma (SCC) occurring in these patients is uncommon and usually has a bad prognosis. The management of these patients is challenging and may require extensive reconstructive procedures. We report a case of SCC in a corrected bladder exstrophy patient who presented with an ulcerated mass in the lower abdomen extending to the base of the penis. Six months after extensive radical ablative surgery with reconstruction of the abdominal wall, the patient remained free of recurrence...
April 2015: Indian Journal of Urology: IJU: Journal of the Urological Society of India
https://www.readbyqxmd.com/read/25526433/scoliosis-in-herlyn-werner-wunderlich-syndrome-a-case-report-and-literature-review
#18
REVIEW
Zheng Li, Xin Yu, Jianxiong Shen, Jinqian Liang
Herlyn-Werner-Wunderlich syndrome (HWWS) is a congenital Müllerian duct anomaly characterized by uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. Little is reported about spinal deformity associated with this syndrome. This study presents a case of scoliosis occurring in the setting of HWWS and explores the possible association between the 2 diseases. A previously unreported scoliosis in HWWS is described. The patient is a 12-year-old Chinese female with scoliosis that underwent a posterior correction at thoracic 5-thoracic 12 (T5-T12) levels, using the Moss-SI (Johnson & Johnson, American) spinal system...
December 2014: Medicine (Baltimore)
https://www.readbyqxmd.com/read/25452981/c%C3%AE-ngenital-diaphragmatic-hernia-in-dakar-senegal
#19
O Ndour, A Faye, Na Ndoye, Dramé A, F Gassama, Pa Mbaye, G Ngom, M Ndoye
BACKGROUND: Congential diaphragmatic herniae pose serious challenges in their management in this environment.Aim & Objective: To determine the pattern, as well as the diagnostic and management challenges of congenital diaphragmatic hernia in Dakar, Senegal. PATIENTS AND METHODS: This is a retrospective review of 14 children with congenital diaphragmatic hernia (CDH) managed within eleven years in Dakar, Senegal. RESULTS: There were nine boys and five girls with the age range of one day to 22 months and a mean of 5 months...
April 2012: Journal of the West African College of Surgeons
https://www.readbyqxmd.com/read/25252715/congential-scoliosis-in-wilson-s-disease-case-report-and-review-of-the-literature
#20
REVIEW
Zheng Li, Xin Yu, Jianxiong Shen, Jinqian Liang
BACKGROUND: Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism, which leads to the accumulation of this metal in liver, brain, cornea and kidney. Little is reported about spinal deformity associated with this syndrome. This study is to present a case of thoracic kyphosis occurring in the setting of Wilson'disease and explore the possible association between the two diseases. CASE PRESENTATION: Case report and literature review. A previously unreported thoracic kyphosis in Wislon's disease is decribed...
September 24, 2014: BMC Surgery
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