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Congenital malformation

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https://www.readbyqxmd.com/read/29792975/bladder-agenesis-and-associated-pelvic-arterial-anomaly-in-two-female-pediatric-patients
#1
Thomas Lowrey, Shellie Josephs, Linda A Baker
Bladder agenesis is an extremely rare congenital anomaly of the genitourinary tract. Two female patients with known diagnoses of bladder agenesis presented for pre-renal transplant evaluation and neobladder creation. Similar unique pelvic arterial malformations were identified through pre-operative imaging and intraoperative examination. With these similar findings, it could be proposed that such anatomical variants are products of the same insult or involve a causal relationship, with vascular aberrancies potentially provoking pelvic organ maldevelopment...
May 21, 2018: Urology
https://www.readbyqxmd.com/read/29792180/screening-for-congenital-fetal-anomalies-in-low-risk-pregnancy-the-kenyatta-national-hospital-experience
#2
Callen Kwamboka Onyambu, Norah Mukiri Tharamba
BACKGROUND: Congenital malformations contribute significantly to the disease burden among children globally. A study conducted in Kenya on understanding the burden of surgical congenital anomalies, highlights the need for Kenyan health systems to go beyond the medical dimensions of illness. This could be achieved by linking knowledge of the severe congenital anomalies (CAs) and their impact of varying disability to the delivery of local health services and public health program planning...
May 23, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29791932/b3galnt2-related-dystroglycanopathy-expansion-of-the-phenotype-with-novel-mutation-associated-with-muscle-eye-brain-disease-walker-warburg-syndrome-epileptic-encephalopathy-west-syndrome-and-sensorineural-hearing-loss
#3
Muna A Al Dhaibani, Ayman W El-Hattab, Omar Ismayl, Jehan Suleiman
Mutations in B3GALNT2 , encoding a glycosyltransferase enzyme involved in α-dystroglycan glycosylation, have been recently associated with dystroglycanopathy, a well-recognized subtype of congenital muscular dystrophy (CMD). Only a few cases have been reported with B3GALNT2 -related dystroglycanopathy with variable severity ranging from mild CMD to severe muscle-eye-brain disease. Here, we describe a child with a novel homozygous nonsense mutation in B3GALNT2 . The affected child has severe neurological disease since birth, including muscle disease manifested as hypotonia, muscle weakness, and wasting with elevated creatine kinase, eye disease including microphthalmia and blindness, brain disease with extensive brain malformations including massive hydrocephalus, diffuse cobblestone-lissencephaly, deformed craniocervical junction, and pontocerebellar hypoplasia...
May 23, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29791621/speech-language-pathology-aspects-in-a-pediatric-case-of-head-and-neck-arthrogryposis
#4
Jennifer Alvares Trindade, Jordana da Silva Freitas, Liliane Menzen, Carolina Laux, Lisiane de Rosa Barbosa, Maria Cristina de Almeida Freitas Cardoso
Arthrogryposis is a rare, multiple, congenital syndrome of non-progressive nature characterized by a series of genetic malformations, as well as stiffness and joint contractures. This is a clinical case study whose objective is to describe speech-language pathology disorders through the evaluation process in a case of arthrogryposis in Pediatrics. The medical records of a patient were analyzed from birth. A complete clinical evaluation of pediatric dysphagia was performed, establishing a diagnosis of severe oropharyngeal dysphagia evidenced by functional and structural impairments...
2018: CoDAS
https://www.readbyqxmd.com/read/29790673/n-terminal-probrain-natriuretic-peptide-as-a-biomarker-of-moderate-to-severe-bronchopulmonary-dysplasia-in-preterm-infants-a-prospective-observational-study
#5
Silvia Rodríguez-Blanco, Ignacio Oulego-Erroz, Paula Alonso-Quintela, Sandra Terroba-Seara, Aquilina Jiménez-González, Maite Palau-Benavides
OBJECTIVE: N-terminal-probrain natriuretic peptide (NT-proBNP) is a marker of hemodynamically significant patent ductus arteriosus (HsPDA) in preterm infants. In this study, we assessed whether NT-proBNP levels could predict the risk of moderate to severe bronchopulmonary dysplasia (BPD) and/or death. METHODS: This was an observational prospective study of preterm infants with GA ≤32 weeks. Infants who died within the first 48 h or who had major congenital malformations or incomplete information were excluded...
May 23, 2018: Pediatric Pulmonology
https://www.readbyqxmd.com/read/29790255/risk-of-major-congenital-malformations-following-first-trimester-exposure-to-vaginal-azoles-used-for-treating-vulvovaginal-candidiasis-a-population-based-retrospective-cohort-study
#6
Reut Rotem, Boris Fishman, Sharon Daniel, Gideon Koren, Eitan Lunenfeld, Amalia Levy
OBJECTIVE: To evaluate the risk for major malformations following first trimester exposure to vaginal azoles. DESIGN: A population based retrospective cohort study of women exposed to vaginal azoles from the first day of the last menstrual period Until the 90th gestational day. SETTING: A combination of four computerized databases: medications, birth, infant hospitalizations and pregnancy terminations. POPULATION: All women who gave birth or undergone a pregnancy termination at Soroka Medical Center, Beer-Sheva, Israel, between 1999 to 2009...
May 22, 2018: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29789951/sleep-in-children-with-congenital-malformations-of-the-central-nervous-system
#7
REVIEW
Jacqueline F Yates, Matthew M Troester, David G Ingram
PURPOSE OF REVIEW: Congenital malformations of the central nervous system may be seen in isolation or in association with syndromes that have multiorgan involvement. Among the potential health challenges these children may face, sleep concerns are frequent and may include chronic insomnia, sleep-related breathing disorders, and circadian rhythm disorders. RECENT FINDINGS: In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika syndrome...
May 23, 2018: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/29788402/internationally-adopted-children-not-only-infectious-diseases
#8
Camilla Totaro, Barbara Bortone, Pasqua Putignano, Sara Sollai, Luisa Galli, Maurizio de Martino, Elena Chiappini
Information on prevalence of special needs in internationally adopted children (IAC) is incomplete. We reviewed data from 422 IAC screened at a single Centre in Italy in 2015-16. Prevalence of special needs reached 17.1% (n = 72). Among these children, the most frequent conditions were fetal alcohol spectrum disorders (FASD; n = 30; 7.1%), cleft lip palate (n = 8; 1.9%) and other congenital malformations (n = 20; 4.7%). Worrisomely, 25 out of 52 (48.1%) Russian children presented with FASD.
January 1, 2018: Journal of Travel Medicine
https://www.readbyqxmd.com/read/29787960/late-presentation-of-ectopia-vesica-with-malignant-transformation-a-case-report-and-review
#9
Sami Eldirdiri, Rehab M Elmushly, Sami G Elazhary
INTRODUCTION: Exstrophy of the bladder is a rare congenital anomaly usually treated in neonatal or childhood period. When combined with renal agenesis and presents for the first time in the adulthood with malignant transformation, is an extreme rarity. CASE PRESENTATION: We present a case of 65 years single male who presented with a right irreducible inguinal hernia and an unreconstructed Ectopia Vesicae with fungating tumor. He was anemic with impaired renal function, left renal agenesis and right sided hydronephrosis, hydroureter and distal ureteric stricture...
May 10, 2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29786584/effect-of-atmospheric-technogenic-emissions-on-health-indicators-of-child-population
#10
Olha M Toronchenko, Viktor I Bredun, Natalia O Smoliar
OBJECTIVE: Introduction:The identification of scientifically grounded dependency of the atmospheric pollution effect on the health level of the child population within particular area makes it possible to assess the degree of district environmental safety and provides the possibility for implementation of targeted programs and risk preventing strategies associated with atmospheric emissions. The aim of the study is to assess the dependence of child morbidity rate development caused by atmospheric chemical pollution, which resulted from the stationary and mobile sources activity in terms of the Poltava region (Ukraine) as a model...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29786408/impact-of-additional-tricuspid-valve-annuloplasty-in-tof-patients-undergoing-pulmonary-valve-replacement
#11
Sabrina Lueck, Eike Bormann, Kathrin Rellensmann, Sven Martens, Andreas Rukosujew
BACKGROUND: Many patients with tetralogy of Fallot (TOF) who underwent surgical correction of their congenital cardiac malformation during infancy develop right ventricular dysfunction and exercise intolerance in the long term. The right ventricle (RV) dilates due to the development of severe pulmonary regurgitation (and secondary tricuspid insufficiency). To reduce RV dilation and improve exercise tolerance pulmonary valve replacement (PVR) is the common therapeutic strategy. Whether concomitant tricuspid valve repair (TVR) is beneficial in these pure volume-overload conditions is still unknown...
May 22, 2018: Journal of Cardiovascular Surgery
https://www.readbyqxmd.com/read/29785155/the-volume-of-the-cerebellum-in-the-second-semester-of-gestation
#12
Damiana Vulturar, Alexandru Fărcăşanu, Flaviu Turcu, Dan Boitor, Carmen Crivii
Background and aims: The cerebellum ("little brain"), the largest part of hind brain, lies in the posterior cranial fossa, beneath the occipital lobe and dorsal to the brainstem. It develops over a long period: it is one of the first structures in the brain to begin to differentiate, but one of the last to mature. The use of ultrasonography has significantly improved the evaluation of fetal growth and development and has permitted prenatal diagnosis of a variety of congenital malformations...
2018: Clujul Medical (1957)
https://www.readbyqxmd.com/read/29784122/treatment-of-venous-malformations-the-data-where-we-are-and-how-it-is-done
#13
Anthony N Hage, Jeffrey Forris Beecham Chick, Ravi N Srinivasa, Jacob J Bundy, Nikunj R Chauhan, Michael Acord, Joseph J Gemmete
Venous malformations are the most common type of congenital vascular malformation. The diagnosis and management of venous malformations may be challenging, as venous malformations may be located anywhere in the body and range from small and superficial to large and extensive lesions. There are many treatment options for venous malformations including systemic targeted drugs, open surgery, sclerotherapy, cryoablation, and laser photocoagulation. This article reviews the natural history, clinical evaluation, imaging diagnosis, and treatment modalities of venous malformations...
June 2018: Techniques in Vascular and Interventional Radiology
https://www.readbyqxmd.com/read/29782340/fatal-airway-obstruction-in-a-man-with-a-cystic-hygroma
#14
Cassandra Maria Wygant, Stephen D Cohle
We describe a 24-year-old man with a cystic hygroma of the left side of the lower neck that led to sudden death. Cystic hygroma (cystic lymphangioma) is a congenital malformation of the lymphatic system. The patient, who had a tracheostomy because of airway obstruction from the cystic hygroma, was found dead with his tracheostomy tube on the floor next to him. Complications of cystic hygroma include infiltration of the neck causing airway obstruction, dysphagia, pain, and obstructive sleep apnea.
May 3, 2018: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/29782301/lymphangioma-circumscriptum-post-radiotherapy-for-penile-cancer-treated-with-co%C3%A2-laser
#15
Dietmar Schulz, Andreas Lein, Ancuta Proca Nicula, Katrin Schierle, Caius Solovan
Lymphangioma circumscriptum (LC) is a rare, benign condition, predominantly characterized by the malformation of lymphatic skin vessels. Its onset may be congenital or due to secondary causes such as radiotherapy, infections, or surgical procedures. We present the case of a 55-year-old patient with a pathologic history of squamous cell carcinoma of the penis followed by radical penectomy. Due to metastasis to the locoregional lymph nodes, the entire affected area was subsequently treated with radiation therapy, receiving a total dose of 55...
April 2018: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/29781080/acquired-uterine-arteriovenous-malformation-a-diagnostic-dilemma
#16
Agata Szpera-Goździewicz, Karolina Gruca-Stryjak, Grzegorz H Bręborowicz, Mariola Ropacka-Lesiak
Uterine arteriovenous malformations are uncommon but potentially life-threatening condition. They can be congenital or acquired and should be suspected in cases of severe or persistent uterine bleeding. In recent years, there has been an increasing number of reports of acquired vascular lesions of the uterus following pregnancy, abortion, caesarean delivery and curettage. This paper presents the case of unexplained vaginal bleeding with subsequent suspicion and diagnosis of uterine arteriovenous malformation...
2018: Ginekologia Polska
https://www.readbyqxmd.com/read/29780758/congenital-pulmonary-airway-malformation
#17
Wlamir Pestana Ursini, Cesar Cilento Ponce
Congenital pulmonary airway malformation (CPAM) is a developmental malformation of the lower respiratory tract. We report the case of a male newborn diagnosed with cystic lung disease during prenatal ultrasound. A cesarean section was performed at the 32nd gestational week because of premature rupture of the membranes, and soon after the delivery the newborn developed respiratory failure and died. The aim of this study is to report an autopsy case because of its rarity, and to briefly discuss the CPAM subtypes and differential diagnosis of cystic lung diseases of childhood...
April 2018: Autopsy & Case Reports
https://www.readbyqxmd.com/read/29779390/-prenatally-diagnosed-case-of-pallister%C3%A2-killian-syndrome
#18
Zsolt Tidrenczel, Erika P Tardy, Edina Sarkadi, Judit Simon, Artúr Beke, János Demeter
Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder that is caused by the mosaic presence of a supernumerary marker chromosome, isochromosome 12p. The syndrome is a polydysmorphic condition characterized by mental retardation, craniofacial dysmorphism, hypotonia, seizures, epilepsy and certain organic malformations (diaphragmatic hernia, congenital heart disease). Prenatal diagnosis is challenging due to the mosaic tissue-specific distribution of the chromosomal disorder and highly variable phenotype...
May 2018: Orvosi Hetilap
https://www.readbyqxmd.com/read/29777883/atypical-presentation-of-giant-aneurysm-in-a-pediatric-patient-with-duane-syndrome
#19
Chao-Hung Kuo, Lynn B McGrath, Joseph A Carnevale, Neena I Marupudi, Jeffery G Ojemann, Richard G Ellenbogen, Anthony C Wang
BACKGROUND: Duane syndrome is a congenital eye movement disorder characterized by congenital malformation of the abducens nucleus. Thrombogenic conditions during development may lead to vascular anomalies in Duane syndrome, however, the presence of a giant aneurysm in this patient population is a rarely documented phenomenon. CASE DESCRIPTION: We reported a case of a large cerebral aneurysm in a pediatric patient with Duane syndrome, and performed a review of the literatures to identify other potential cases and associations...
May 16, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29776801/determinants-of-a-good-perinatal-outcome-in-588-pregnancies-in-women-with-type-1-diabetes
#20
J Lepercq, C Le Ray, C Godefroy, L Pelage, D Dubois-Laforgue, J Timsit
AIM: This study assessed pregnancy outcomes in women with type 1 diabetes (T1D) over the last 15 years and identified modifiable factors associated with good perinatal outcomes. METHODS: Pregnancy outcomes were prospectively assessed in this cohort study of 588 singleton pregnancies (441 women) managed by standardized care from 2000 to 2014. A good perinatal outcome was defined as the uncomplicated delivery of a normally formed, non-macrosomic, full-term infant with no neonatal morbidity...
May 8, 2018: Diabetes & Metabolism
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