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Congenital malformation

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https://www.readbyqxmd.com/read/29166461/presumed-zika-virus-related-congenital-brain-malformations-the-spectrum-of-ct-and-mri-findings-in-fetuses-and-newborns
#1
José Daniel Vieira de Castro, Licia Pacheco Pereira, Daniel Aguiar Dias, Lindenberg Barbosa Aguiar, Joanira Costa Nogueira Maia, Jesus Irajacy Fernandes da Costa, Eveline Campos Monteiro de Castro, Francisco Edson de Lucena Feitosa, Francisco Herlânio Costa Carvalho
OBJECTIVE: The new epidemic of Zika virus infection raises grave concerns, especially with the increasingly-recognized link between emerging cases of microcephaly and this infectious disease. Besides small cranial dimensions, there are striking morphologic anomalies in the fetal brain. Key anomalies include cortical developmental malformations and a peculiar distribution of pathologic calcifications. These potentially indicate a new pattern of congenital central nervous system infection...
October 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/29164811/congenital-heart-defects-in-ivf-icsi-pregnancy-a-systematic-review-and-meta-analysis
#2
REVIEW
Veronica Giorgione, Fabio Parazzini, Vlasta Fesslova, Sonia Cipriani, Massimo Candiani, Annalisa Inversetti, Cristina Sigismondi, Francesca Tiberio, Paolo Cavoretto
OBJECTIVE: There is no consensus in current practice guidelines whether IVF/ICSI conception represents an indication for performing a fetal echocardiogram. The aim of the study is to assess whether CHD occurs more often with the use of in-vitro-fertilization (IVF)/ intracytoplasmic sperm injection (ICSI) techniques as compared to spontaneous pregnancies. METHODS: A systematic search for studies in PubMed/MEDLINE, Embase and Scopus from inception to September 2017 was conducted...
November 22, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29164568/cystic-hygroma-of-the-neck-single-center-experience-and-literature-review
#3
C Damaskos, N Garmpis, M Manousi, A Garmpi, G-A Margonis, E Spartalis, C Doula, C Michail-Strantzia, N Patelis, D Schizas, P-T Arkoumanis, N Andreatos, G Tsourouflis, N Zavras, K Markatos, K Kontzoglou, E A Antoniou
OBJECTIVE: Malformations of the lymphatic system are recognized as benign congenital tumors that affect infant and children in the perinatal era. In children, these abnormalities usually found in the neck and the axillary region, but they can present in other parts of the body such as mediastinum, pelvis, retroperitoneum as well as in solid organs (e.g., adrenal glands, pancreas, stomach). Our aim is to report our experience on cystic hygromas via two cases and review the literature. MATERIALS AND METHODS: Herein we present two cases of cystic hygroma, the first of female children and the second of a female adult patient respectively...
November 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29164323/safety-of-intranasal-corticosteroid-sprays-during-pregnancy-an-updated-review
#4
REVIEW
Ahmed H Alhussien, Riyadh A Alhedaithy, Saad A Alsaleh
INTRODUCTION: Rhinitis and rhinosinusitis are commonly encountered in pregnant women. Intranasal corticosteroid (INCS) sprays are generally safe and effective in the treatment of these conditions in the general population. However, the use of some of these INCS sprays during pregnancy is still controversial. OBJECTIVE: To review the current literature about the safety of intranasal corticosteroid sprays during pregnancy. METHODOLOGY: Using different search engines, each type of INCS was reviewed separately (triamcinolone, beclomethasone, budesonide, fluticasone propionate, fluticasone furoate, mometasone, and ciclesonide)...
November 21, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/29163663/an-unusual-and-rare-form-of-truncus-arteriosus-in-an-asymptomatic-woman
#5
Maryam Nabati
Persistent truncus arteriosus is a rare congenital cardiac malformation. It is characterized by a single great artery arising from the heart which supplies the aorta, the origin of coronary arteries and pulmonary arteries. Without surgery, prognosis is poor and 90% of these patients die before one year of age. We report a rare case of an asymptomatic 35-year-old woman with uncorrected persistent truncus arteriosus and hypoplastic right and left pulmonary arteries. Hypoplastic branch pulmonary arteries prevented the development of severe pulmonary arterial hypertension...
November 2017: Ultrasound: Journal of the British Medical Ultrasound Society
https://www.readbyqxmd.com/read/29162597/prevalence-and-clinical-profile-of-microcephaly-in-south-america-pre-zika-2005-14-prevalence-and-case-control-study
#6
Iêda M Orioli, Helen Dolk, Jorge S Lopez-Camelo, Daniel Mattos, Fernando A Poletta, Maria G Dutra, Flavia M Carvalho, Eduardo E Castilla
Objective To describe the prevalence and clinical spectrum of microcephaly in South America for the period 2005-14, before the start of the Zika epidemic in 2015, as a baseline for future surveillance as the Zika epidemic spreads and as other infectious causes may emerge in future.Design Prevalence and case-control study.Data sources ECLAMC (Latin American Collaborative Study of Congenital Malformations) database derived from 107 hospitals in 10 South American countries, 2005 to 2014. Data on microcephaly cases, four non-malformed controls per case, and all hospital births (all births for hospital based prevalence, resident within municipality for population based prevalence)...
November 21, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/29161808/renal-outcome-of-congenital-anomalies-of-the-kidney-and-urinary-tract-system-a-singe-center-retrospective-study
#7
Rahime Renda
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) have been defined in 20 to 50% of all fetal anomalies. The aim of this study was to determine the demographic and clinical characteristics of such patients, as well as to describe the outcome and risk factors that affect the prognosis. METHODS: The analysis investigated retrospective data from 303 patients diagnosed with CAKUT between January 2015 and April 2017. Demographic data, clinical history, diagnosis, investigations, disease outcomes, and treatment procedures were evaluated...
November 21, 2017: Minerva Urologica e Nefrologica, the Italian Journal of Urology and Nephrology
https://www.readbyqxmd.com/read/29160006/kaufman-oculocerebrofacial-syndrome-novel-ube3b-mutations-and-clinical-features-in-four-unrelated-patients
#8
Rüstem Yilmaz, Katalin Szakszon, Anna Altmann, Umut Altunoglu, Leyli Senturk, Marianne McGuire, Olga Calabrese, Suneeta Madan-Khetarpal, Lina Basel-Vanagaite, Guntram Borck
The "blepharophimosis-mental retardation" syndromes (BMRS) consist of a group of clinically and genetically heterogeneous congenital malformation syndromes, where short palpebral fissures and intellectual disability associate with a distinct set of other morphological features. Kaufman oculocerebrofacial syndrome represents a rare and recently reevaluated entity within the BMR syndromes and is caused by biallelic mutations of UBE3B. Affected individuals typically show microcephaly, impaired somatic growth, gastrointestinal and genitourinary problems, ectodermal anomalies and a characteristic face with short, upslanted palpebral fissures, depressed nasal bridge...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29160005/investigation-of-parameters-predicting-the-need-for-diagnostic-imaging-beyond-computed-tomography-in-the-evaluation-of-dogs-with-thoracolumbar-myelopathy-retrospective-evaluation-of-555-dogs
#9
Lee Emery, Silke Hecht, Xiaocun Sun
Thoracolumbar myelopathy encompasses a number of disease processes such as intervertebral disc disease, discospondylitis, trauma, congenital malformations, neoplasia, and intramedullary spinal cord disease. Compressive disc herniations are most common in dogs and require imaging procedures such as myelography, computed tomography (CT), and/or magnetic resonance imaging (MRI) to determine the need and location for decompressive surgery. The purposes of this retrospective, cross-sectional study were to evaluate all dogs undergoing thoracolumbar CT imaging as the initial diagnostic step between 2010 and 2015 and determine whether any of the imaging characteristics could be used to predict the need for additional imaging in the form of myelography, CT myelography, and/or MRI...
November 20, 2017: Veterinary Radiology & Ultrasound
https://www.readbyqxmd.com/read/29159998/summary-of-the-first-inaugural-joint-meeting-of-the-international-consortium-for-scoliosis-genetics-and-the-international-consortium-for-vertebral-anomalies-and-scoliosis-march-16-18-2017-dallas-texas
#10
Philip F Giampietro, Olivier Pourquie, Cathy Raggio, Shiro Ikegawa, Peter D Turnpenny, Ryan Gray, Sally L Dunwoodie, Christina A Gurnett, Benjamin Alman, Kenneth Cheung, Kenro Kusumi, Nancy Hadley-Miller, Carol A Wise
Scoliosis represents the most common musculoskeletal disorder in children and affects approximately 3% of the world population. Scoliosis is separated into two major phenotypic classifications: congenital and idiopathic. Idiopathic scoliosis is defined as a curvature of the spine of 10° or greater visualized on plane radiograph and does not have associated vertebral malformations (VM). "Congenital" scoliosis (CS) due to malformations in vertebrae is frequently associated with other birth defects. Recently, significant advances have been made in understanding the genetic basis of both conditions...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159576/an-experience-of-second-trimester-anhydramnios-salvaged-by-single-amnioinfusion
#11
Shingo Io, Eiji Kondoh, Yoshitsugu Chigusa, Hirohiko Tani, Junzo Hamanishi, Ikuo Konishi
Second-trimester anhydramnios, which is primarily caused by ruptured membranes, placental dysfunction, or congenital renal malformations, is associated with high perinatal morbidity and mortality. Although amnioinfusion temporarily increases amniotic fluid volume, it does not generally provide a fundamental solution. We describe a case of second-trimester anhydramnios with an umbilical cord factor, wherein single amnioinfusion may have successfully broken a vicious circle involving non-reassuring fetal status...
November 20, 2017: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/29159461/severe-hyperammonemic-encephalopathy-requiring-dialysis-aggravated-by-prolonged-fasting-and-intermittent-high-fat-load-in-a-ramadan-fasting-month-in-a-patient-with-cptii-homozygous-mutation
#12
P Phowthongkum, C Ittiwut, V Shotelersuk
BACKGROUND: Carnitine palmitoyltransferase II (CPTII) deficiency is a mitochondrial fatty acid oxidation disorder that can present antenatally as congenital brain malformations, or postnatally with lethal neonatal, severe infantile, or the most common adult myopathic forms. No case of severe hyperammonemia without liver dysfunction has been reported. CASE PRESENTATION: We described a 23-year-old man who presented to the emergency department with seizures and was found to have markedly elevation of serum ammonia...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29159008/caroli-s-disease-as-a-cause-of-chronic-epigastric-abdominal-pain-two-case-reports-and-a-brief-review-of-the-literature
#13
REVIEW
Pedro Cabral Correia, Bruno Morgado
Caroli's disease is a very rare congenital malformation, currently included in cystic diseases of the biliary tract, and is characterized by ectasia and dilatation of the intrahepatic bile ducts. Two clinical entities can be distinguished, Caroli's disease in which congenital hepatic impairment is limited to cystic dilatation and Caroli's syndrome in which congenital hepatic fibrosis coexists. We present two cases of atypical presentations of Caroli's disease. Case one was a 76-year-old man who was referred to our hospital for chronic non-remitting epigastric pain prior to diagnosis...
September 20, 2017: Curēus
https://www.readbyqxmd.com/read/29157538/mast-cells-in-calcific-aortic-stenosis
#14
Ivo Šteiner, Václav Stejskal, Pavel Žáček
In developed countries, calcific aortic stenosis (CAS) has become the most common acquired valvular disease and reason for aortic valve replacement. It is considered a form of atherosclerosis and, like the latter, of inflammatory origin, with presence in the calcified aortic valves of blood vessels, lymphatics, lymphocytes, plasma cells, histiocytes, and sometimes also of metaplastic bone tissue. This study is aimed at examining the presence of CD117 - positive mast cells in CAS. In 56 examined calcified aortic valves excised by cardiac surgery, mast cells were constantly present as a part of the polymorphous cellular infiltrate; in individual cases, their numbers were 1-90 (median 24)...
July 23, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/29157049/small-for-gestational-age-as-an-independent-risk-factor-for-long-term-pediatric-gastrointestinal-morbidity-of-the-offspring
#15
N Steiner, T Wainstock, E Sheiner, I Segal, D Landau, A Walfisch
OBJECTIVE: The concept of neonatal programing has begun to emerge as an important component of adult health. Scarce data exist regarding perinatal risk factors for long-term gastrointestinal (GI) morbidity of the offspring. We aimed to evaluate the association between birthweight (BW) at term and long-term pediatric GI morbidity. STUDY DESIGN: A population-based cohort analysis was performed, comparing the risk of long-term GI morbidity (up to the age of 18 years) in children delivered at term according to their BW...
November 20, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29153187/otoplasty-for-congenital-auricular-malformations
#16
REVIEW
Jiahui Lin, Anthony P Sclafani
Among the less common congenital auricular anomalies are cryptotia, Stahl ear, constricted ear, and macrotia. The vast majority of these occur spontaneously without accompanying syndromes or other deformities. This article provides a comprehensive overview of these anomalies, as well as common techniques to correct these anomalies.
February 2018: Facial Plastic Surgery Clinics of North America
https://www.readbyqxmd.com/read/29153066/-age-related-prevalence-of-toxoplasmosis-among-pregnant-women-in-hatay-estimation-depending-on-model
#17
Meryem Çetin, Şirin Çetin
Toxoplasmosis, caused by the obligate intracellular protozoan Toxoplasma gondii, is a common parasitic infection affecting approximately one-third of the world population. T.gondii infections are usually acquired by ingesting raw or insufficiently cooked meat and from unwashed fruits and vegetables contaminated with soil or water with cat feces. Primary infection acquired during pregnancy can cause severe congenital abnormalities in the fetus such as neurologic and ocular malformations, abortion, or stillbirth according to the degree of infection...
October 2017: Mikrobiyoloji Bülteni
https://www.readbyqxmd.com/read/29153045/treatment-of-clubfoot-with-the-modified-copenhagen-method-a-10-year-follow-up
#18
Elia Utrilla-Rodríguez, Pedro V Munuera-Martínez, Manuel Albornoz-Cabello
BACKGROUND: Clubfoot is one of the most frequent congenital malformations in the world. Non-operative methods follows limiting surgery to a minimum. The modified Copenhagen method has not been studied enough. STUDY DESIGN: longitudinal retrospective study. OBJECTIVES: To evaluate prognostic factors for clinical rehabilitation with the modified Copenhagen method in a 10-year follow-up period. METHODS: A retrospective study was carried out on a 10-year follow-up of 82 children diagnosed with clubfoot at birth and treated with the modified Copenhagen method...
November 1, 2017: Prosthetics and Orthotics International
https://www.readbyqxmd.com/read/29152426/an-overview-of-infant-mortality-trends-in-qatar-from-2004-to-2014
#19
Mohammed Al-Thani, Al-Anoud Al-Thani, Amine Toumi, Shams Eldin Khalifa, Hammad Akram
Background Infant mortality is an important health indicator that estimates population well-being. Infant mortality has declined globally but is still a major public health challenge. This article provides the characteristics, causes, burden, and trends of infant mortality in Qatar. Methods Frequencies, percentages, and rates were calculated using data from birth-death registries over 2004-2014 to describe infant mortality by nationality, gender, and age group. We calculated the relative risks of the top causes of infant mortality among subgroups according to the 10(th) Revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10, Version 2016)...
September 9, 2017: Curēus
https://www.readbyqxmd.com/read/29150347/-perineal-groove-case-report-and-review-of-the-literature
#20
Y de La Monneraye, G Benoist, L Marchesi, A-S Crosnier, V Guinard-Samuel
Perineal groove is a rare anoperineal congenital malformation, usually occurring in girls, unknown to many pediatricians. We report the case of a 17-day-old girl admitted for urinary infection, who presented a wet sulcus with mucous membrane, extending from the vaginal fourchette to the anterior border of the anus. The diagnosis of perineal groove was clinically confirmed, after elimination of misdiagnosis such as infection or trauma. This benign malformation tends to be self-epithelialized in the 1st year of life, and no surgical treatment is recommended, except for cosmetic reasons or for recurrent infections...
November 14, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
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