keyword
MENU ▼
Read by QxMD icon Read
search

congenital anomalies

keyword
https://www.readbyqxmd.com/read/27911245/use-of-magnetic-resonance-imaging-to-detect-occult-spinal-dysraphism-in-infants
#1
Brent R O'Neill, Danielle Gallegos, Alex Herron, Claire Palmer, Nicholas V Stence, Todd C Hankinson, C Corbett Wilkinson, Michael H Handler
OBJECTIVE Cutaneous stigmata or congenital anomalies often prompt screening for occult spinal dysraphism (OSD) in asymptomatic infants. While a number of studies have examined the results of ultrasonography (US) screening, less is known about the findings when MRI is used as the primary imaging modality. The object of this study was to assess the results of MRI screening for OSD in infants. METHODS The authors undertook a retrospective review of all infants who had undergone MRI of the lumbar spine to screen for OSD over a 6-year period (September 2006-September 2012)...
December 2, 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27910299/native-and-aberrant-left-anterior-descending-artery-arising-from-left-and-right-coronary-sinus-respectively-a-very-rare-congenital-coronary-anomaly
#2
Hiten Patel, Krishna Nemani, Priyank Shah, Arthur Millman, Fayez Shamoon, Meherwan Joshi
No abstract text is available yet for this article.
February 2017: Minerva Cardioangiologica
https://www.readbyqxmd.com/read/27909860/tibial-hemimelia-new-classification-and-reconstructive-options
#3
REVIEW
Dror Paley
Tibial hemimelia is a rare congenital lower limb deficiency presenting with a wide spectrum of associated congenital anomalies, deficiencies and duplications. Reconstructive options have been limited, and the gold standard for treatment has remained amputation with prosthetic fitting. There is now a better understanding of the genetics, etiology and pathoanatomy of tibial hemimelia. Armed with this knowledge, I present here a new classification to guide treatment and prognosis and then discuss new treatment strategies and techniques for limb reconstruction based on this new classification scheme...
December 1, 2016: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/27909773/magnetic-resonance-imaging-of-fetal-pelvic-cysts
#4
REVIEW
Styliani Archontaki, Yvan Vial, Sylviane Hanquinet, Reto Meuli, Leonor Alamo
The detection of fetal anomalies has improved in the last years as a result of the generalization of ultrasound pregnancy screening exams. The presence of a cystic imaging in the fetal pelvis is a relatively common finding, which can correspond to a real congenital cystic lesion or result from the anomalous liquid accumulation in a whole pelvic organ, mainly the urinary bladder, the uterus, or the vagina. In selected cases with poor prognosis and/or inconclusive echographic findings, magnetic resonance may bring additional information in terms of the characterization, anatomical location, and real extension of the pathology...
December 1, 2016: Abdominal Radiology
https://www.readbyqxmd.com/read/27907933/evaluation-of-pregnant-and-postpartum-women-s-knowledge-about-toxoplasmosis-in-rio-grande-rs-brazil
#5
Lis Maurente Lehmann, Paula Costa Santos, Carlos James Scaini
Introduction Toxoplasmosis a parasitic zoonosis of global distribution, responsible for disorders during gestation can cause fetal death or congenital anomalies. Objective To evaluate the knowledge of toxoplasmosis among pregnant and postpartum women treated at the University Hospital of the city of Rio Grande, Rio Grande do Sul, Brazil. Methods This was a cross-sectional study of 100 pregnant and postpartum women at the University Hospital. Participants answered a self-administered questionnaire and gave consent for data relating to serological examinations to be abstracted from their medical records...
December 1, 2016: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/27906972/selective-serotonin-reuptake-inhibitor-ssri-antidepressants-in-pregnancy-and-congenital-anomalies-analysis-of-linked-databases-in-wales-norway-and-funen-denmark
#6
Sue Jordan, Joan K Morris, Gareth I Davies, David Tucker, Daniel S Thayer, Johannes M Luteijn, Margery Morgan, Ester Garne, Anne V Hansen, Kari Klungsøyr, Anders Engeland, Breidge Boyle, Helen Dolk
BACKGROUND: Hypothesised associations between in utero exposure to selective serotonin reuptake inhibitors (SSRIs) and congenital anomalies, particularly congenital heart defects (CHD), remain controversial. We investigated the putative teratogenicity of SSRI prescription in the 91 days either side of first day of last menstrual period (LMP). METHODS AND FINDINGS: Three population-based EUROCAT congenital anomaly registries- Norway (2004-2010), Wales (2000-2010) and Funen, Denmark (2000-2010)-were linked to the electronic healthcare databases holding prospectively collected prescription information for all pregnancies in the timeframes available...
2016: PloS One
https://www.readbyqxmd.com/read/27905648/-a-new-fetal-death-classification-system
#7
Alfredo Ovalle, Ariel Fuentes, Valentina Chacón, Carolina Espinoza, Rodrigo González, Manuel Ramos, Jorge Geraldo, Letsy Osses, Elena Kakarieka
BACKGROUND: Stillbirth is the mayor contributor to perinatal mortality. AIM: To report a system for classification of fetal deaths. MATERIAL AND METHODS: Retrospective cohort study of 29,916 births with 258 fetal deaths that occurred in a public hospital. Data were obtained from audit reports of stillbirths. The method for classification “obstetric condition relevant to the death” was applied, based on obstetric and placental pathological findings analyzed exclusively by a single obstetrician and a single pathologist...
August 2016: Revista Médica de Chile
https://www.readbyqxmd.com/read/27905212/multicystic-seminal-vesicle-with-ipsilateral-renal-agenesis-two-cases-of-zinner-syndrome
#8
Pablo Naval-Baudin, Elena Carreño García, Ana Sanchez Marquez, Joana Valcárcel José, Natalia M Romero
The association of ipsilateral renal agenesis and cystic seminal vesicle is a rare congenital syndrome described by Zinner in 1914. The cases of two patients with this syndrome are presented, one of them associated with infertility, the other with cryptorchidism and testicular pain. A brief review of the literature is undertaken, regarding the main clinical and imaging implications, and the developmental anomalies that are involved in this unusual congenital anomaly are analyzed.
December 1, 2016: Scandinavian Journal of Urology
https://www.readbyqxmd.com/read/27904209/branchial-cleft-cyst
#9
Vaishali Nahata
Branchial cleft cyst, sinuses, and fistulae are among the most commonly encountered congenital anomalies in pediatric otolaryngic practice. They can present difficulty in diagnosis and surgical management. Here, I report a case of 14-year-old boy who presented with asymptomatic, congenital swelling located just below the jawline in the lateral part of the neck. The lesion was excised surgically. Histopathology showed the cyst lined by squamous as well as columnar ciliated epithelium, which was a characteristic finding of branchial cleft cyst...
November 2016: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/27900349/symptomatic-bilateral-coronary-artery-fistula-to-pulmonary-artery-in-elderly-patient
#10
Francisco Pereira da Silva, Paulo Donato, Henrique Donato, Elisabete Jorge, Maria Joao Ferreira, Filipe Caseiro-Alves
We report the imaging findings of an uncommon coronary vascular termination anomaly, with fistula to the pulmonary artery. This 70 year old female patient presented unstable angina, showing a coronary artery fistula depicted in coronary angiogram from the left coronary to the pulmonary artery, with no significant atherosclerotic pathology. Due to development of ventricular tachycardia in stress echocardiogram examination, she was proposed for coronary fistula closure. Coronary CT was performed for procedure planning and allowed the identification of a second unsuspected fistula from the right coronary to the right pulmonary artery...
2016: European Journal of Radiology Open
https://www.readbyqxmd.com/read/27899864/right-ventricle-mimics-right-atrium-at-first-glance-a-rare-case-of-congenital-right-sided-partial-pericardial-defect
#11
Meitzu Wang, Tien-Yu Chang, Wei-Hsian Yin, Yung-Nien Yang
Among heart irregularities, congenital pericardial defect is an unusual anomaly, and is typically left dominant. However, cases of right pericardial defect with heart herniation are extremely rare. This is a case of congenital right pericardial defect with herniation of the right ventricle free wall and right ventricular outflow tract. The patient is asymptomatic and refused further intervention but even indolent discomfort underscores the risks of iatrogenic injuries to the heart and sudden death caused by mechanical pathogenesis due to changes in anatomical positions of the cardiac structures...
November 2016: Acta Cardiologica Sinica
https://www.readbyqxmd.com/read/27899416/peritoneal-dialysis-access-revision-in-children-causes-interventions-and-outcomes
#12
Dagmara Borzych-Duzalka, T Fazil Aki, Marta Azocar, Colin White, Elizabeth Harvey, Sevgi Mir, Marta Adragna, Erkin Serdaroglu, Rajiv Sinha, Charlotte Samaille, Juan Jose Vanegas, Jameela Kari, Lorena Barbosa, Arvind Bagga, Monica Galanti, Onder Yavascan, Giovanna Leozappa, Maria Szczepanska, Karel Vondrak, Kei-Chiu Tse, Franz Schaefer, Bradley A Warady
BACKGROUND AND OBJECTIVES: Little published information is available about access failure in children undergoing chronic peritoneal dialysis. Our objectives were to evaluate frequency, risk factors, interventions, and outcome of peritoneal dialysis access revision. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Data were derived from 824 incident and 1629 prevalent patients from 105 pediatric nephrology centers enrolled in the International Pediatric Peritoneal Dialysis Network Registry between 2007 and 2015...
November 29, 2016: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/27899160/physiopathology-of-vesico-ureteral-reflux
#13
REVIEW
Salvatore Arena, Roberta Iacona, Pietro Impellizzeri, Tiziana Russo, Lucia Marseglia, Eloisa Gitto, Carmelo Romeo
Vescico-Ureteral Reflux (VUR) is a common condition in childhood, caused by a congenital anomaly at the Vescico-Ureteral Junction (VUJ) level. It seems that the main cause could be an abnormal embryological development occurred during the early stage of fetal life.Refluxing ureteral endings show structural and functional anomalies: previous studies have shown a significant decrease in alfa actin, miosin and desmin contents as well as an high rate of atrophy and muscular degeneration with disorganized muscular fibres...
November 29, 2016: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/27897086/pattern-of-clefts-and-dental-anomalies-in-six-year-old-children-a-retrospective-observational-study-in-western-norway
#14
Paul Sæle, Eirik Østhus, Sondre Ådalen, Elwalid F Nasir, Manal Mustafa
OBJECTIVES: Clefts of the lip and/or palate (CL/P) are the most common congenital disorders of the head and neck. In Norway, the incidence is 1.9/1000 live births. The aim of this study was to investigate the frequency and distribution of various types of clefts and dental anomalies in patients treated by the cleft lip and palate (CLP) team in Bergen, Norway. MATERIAL AND METHODS: The material comprised the records of patients 6 years of age, examined by the CLP team in Bergen from spring 1993 to autumn 2012, incomplete records were excluded...
November 29, 2016: Acta Odontologica Scandinavica
https://www.readbyqxmd.com/read/27896282/a-patient-with-lissencephaly-developmental-delay-and-infantile-spasms-due-to-de-novo-heterozygous-mutation-of-kif2a
#15
Guoling Tian, Ana G Cristancho, Holly A Dubbs, Grant T Liu, Nicholas J Cowan, Ethan M Goldberg
BACKGROUND: Microtubules are dynamic polymers of α/β tubulin heterodimers that play a critical role in cerebral cortical development, by regulating neuronal migration, differentiation, and morphogenesis. Mutations in genes that encode either α- or β-tubulin or a spectrum of proteins involved in the regulation of microtubule dynamics lead to clinically devastating malformations of cortical development, including lissencephaly. METHODS: This is a single case report or a patient with lissencephaly, developmental delay, nystagmus, persistent hyperplastic primary vitreous, and infantile spasms, and undertook a neurogenetic workup...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27896188/foot-syndactyly-a-clinical-and-demographic-analysis
#16
Jong Ho Kim, Byung Jun Kim, Sung Tack Kwon
BACKGROUND: Syndactyly of the foot is the second most common congenital foot anomaly. In East Asia, however, no large case study has been reported regarding the clinical features of isolated foot syndactyly. In this study, we report a review of 118 patients during the last 25 years. METHODS: We conducted a chart review of patients who underwent surgical correction for foot syndactyly between January 1990 and December 2014. Operations were performed with a dorsal triangular flap and a full-thickness skin graft...
November 2016: Archives of Plastic Surgery
https://www.readbyqxmd.com/read/27896167/imperforate-anus-with-jejunal-atresia-complicated-by-intestinal-volvulus-a-case-report
#17
Hae Soo Joung, Alexandra Leon Guerrero, Sandra Tomita, Keith A Kuenzler
Anorectal malformations (ARMs) commonly co-occur with other congenital anomalies, particularly VACTERL (vertebral, anorectal, cardiac, tracheal, esophageal, renal, limb, and duodenal) associations. However, this collection of associations is not comprehensive, and other concurrent anomalies may exist that can be missed during the standard work-up of patients with ARMs. We present a rare case of a neonate with a low ARM with concurrent jejuno-ileal atresia that was diagnosed after the correction of the ARM when the patient developed segmental volvulus...
October 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27896163/varied-presentation-of-congenital-segmental-dilatation-of-the-intestine-in-neonates-report-of-three-cases
#18
Binod Kumar Rai, Bilal Mirza, Imran Hashim, Muhammad Saleem
Congenital segmental dilatation (CSD) of the intestine is a rare developmental anomaly characterized by sharply demarcated dilatation of a gastrointestinal segment and may present with intestinal obstruction. We report three cases of CSD of the intestine in neonates with varied presentation. First patient was mistaken as pneumoperitoneum on abdominal radiograph, which led to initial abdominal drain placement. The 2nd patient was a case of anorectal malformation associated with congenital pouch colon (CPC) and CSD of ileum; and the third case presented as neonatal intestinal obstruction and found to have CSD of ileum...
October 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27896162/preduodenal-portal-vein-associated-with-duodenal-obstruction-of-other-etiology-a-case-series
#19
Punit Srivastava, Mishraz Shaikh, Bilal Mirza, Richa Jaiman, Muhammad Arshad
DuodenalPreduodenal portal vein is a rare and interesting entity which often causes duodenal obstruction. It is also associated with other congenital anomalies. We report here three cases of preduodenal portal vein associated with other anomalies causing duodenal obstruction not related to direct compression by portal vein itself.
October 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27896159/intestinal-atresia-experience-at-a-busy-center-of-north-west-india
#20
Shilpi Gupta, Rahul Gupta, Soumyodhriti Ghosh, Arun Kumar Gupta, Arvind Shukla, Vinita Chaturvedi, Praveen Mathur
Objective: To evaluate the presentation, management, complications and outcome of intestinal atresia (IA) managed at our center over a period of 1 year. Materials and methods: Records of patients of IA admitted in our center from January 2015 to December 2015 were retrospectively analyzed. Demographic data, antenatal history, presenting complaints, location (duodenal, jejunoileal, colonic) of atresia, surgery performed and peri-operative complications were noted. Results: Total 78 cases of IA were included in the analyses...
October 2016: Journal of Neonatal Surgery
keyword
keyword
82359
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"