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Congenital malformations

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https://www.readbyqxmd.com/read/29777883/atypical-presentation-of-giant-aneurysm-in-a-pediatric-patient-with-duane-syndrome
#1
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
#2
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
https://www.readbyqxmd.com/read/29776403/rostral-cranial-fossa-as-a-site-for-cerebrospinal-fluid-drainage-volumetric-studies-in-dog-breeds-of-different-size-and-morphotype
#3
Wojciech Sokołowski, Norbert Czubaj, Michał Skibniewski, Karolina Barszcz, Marta Kupczyńska, Wojciech Kinda, Zdzisław Kiełbowicz
BACKGROUND: Hydrocephalus is a multifactorial condition, whose aetiology is not fully understood. Congenital hydrocephalus frequently occurs in small and brachycephalic dog breeds. Although it is widely accepted that the cribriform plate located in the rostral cranial fossa (RCF) is a site of cerebrospinal fluid (CSF) drainage, the RCF has not been studied extensively. Literature reports indicate that a decreased caudal cranial fossa (CCF) volume in the course of the Chiari-like malformation may obstruct CSF circulation...
May 18, 2018: BMC Veterinary Research
https://www.readbyqxmd.com/read/29775803/assisted-reproductive-technologies-and-imprinting-disorders-results-of-a-study-from-a-french-congenital-malformations-registry
#4
Audrey Uk, Sophie Collardeau-Frachon, Quentin Scanvion, Lucas Michon, Emmanuelle Amar
INTRODUCTION: Assisted Reproductive Technologies (ART) is increasingly used to help infertile couples to have children around the world. A number of studies have been published reporting an increased risk of major malformations in children born following ART, especially an increased incidence of epigenetic diseases (ED). This study aimed to assess the incidence of epigenetic diseases with affected imprinting genes in infants or children from pregnancies obtained through IVF/ICSI compared to infants or children from pregnancies obtained spontaneously...
May 15, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29775450/-congenital-megacalycosis-in-a-girl-with-unilateral-renal-agenesis
#5
Agnieszka Szmigielska, Grażyna Krzemień, Anna Zacharzewska, Teresa Dudek-Warchoł, Stanisław Warchoł
Renal agenesis occurs in pediatric population with the incidence 1:500- 2000 children. It is more often diagnosed in boys and on the left side of the body. Renal agenesis may be isolated or it may be a part of complex malformation syndrome. Megacalycosis is a very rare anomaly of urinary tract associated with abnormal structure of the kidney pyramids. AIM: The aim of the study was to present for the first time in the medical literature the case of a girl with unilateral renal agenesis and megacalycosis...
April 23, 2018: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29775000/-the-treatment-efficiency-of-a-new-ear-moding-device-in-the-infants-with-congenital-ear-abnormalities
#6
P W Chen, J Li, S Q Zhao, J S Yang, J M Dou, C Y Wei
Objective: To observe the nonsurgical treatment effciency of a new ear moding device on congenital auricle deformities in order to promote clinical application. Method: Twenty-nine patients (38 ears) from Beijing Tongren Hospital Outpatient received ear molding treatment using the EarWell Infant Ear Correction System. We keep regular follow-up and close observation during the moding period. The treatment effciency was judged by the otologist, plastic surgeons and parents based on the preprocedure and postprocedure photographs and divided into 3 grades: excellent, good and poor...
June 5, 2017: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
https://www.readbyqxmd.com/read/29773423/management-of-giant-embryonic-vein-in-klippel-tr%C3%A3-naunay-syndrome
#7
Animesh Rathore, Peter Gloviczki, Haraldur Bjarnason
Klippel-Trénaunay syndrome is a rare mixed malformation characterized by congenital varicose veins, low-flow venous and lymphatic malformations, hypertrophy of soft tissue and bone, and capillary malformations. A 35-year-old man with a diagnosis of Klippel-Trénaunay syndrome presented to the clinic with significant pain and swelling in the left leg. Initial conservative management with compression therapy failed. He was then managed surgically with preoperative placement of an inferior vena cava filter (because of a history of deep venous thrombosis and pulmonary embolism), followed by resection of the lateral embryonic vein, ligation of large perforators, and excision of smaller varicosities...
May 14, 2018: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/29773306/factors-associated-with-timing-and-adverse-outcomes-in-patients-with-biliary-atresia-undergoing-kasai-hepatoportoenterostomy
#8
Michael Ross Townsend, Adeeb Jaber, Hanina Abi Nader, Shaker M Eid, Kathleen Schwarz
OBJECTIVE: To assess factors associated with timing of hepatoportoenterostomy (HPE) and adverse perioperative outcomes in patients with biliary atresia in the US. STUDY DESIGN: We examined hospitalizations in infants aged <1 year using the National Inpatient Sample database for 2000-2011. We identified cases using the International Classification of Diseases, Ninth Revision, Clinical Modification codes for biliary atresia and HPE. Multivariable logistic regression models were used to examine association between select factors and age at HPE, as well as adverse perioperative outcomes...
May 14, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29772208/influence-of-blood-flow-on-cardiac-development
#9
REVIEW
Katherine Courchaine, Graham Rykiel, Sandra Rugonyi
The role of hemodynamics in cardiovascular development is not well understood. Indeed, it would be remarkable if it were, given the dauntingly complex array of intricately synchronized genetic, molecular, mechanical, and environmental factors at play. However, with congenital heart defects affecting around 1 in 100 human births, and numerous studies pointing to hemodynamics as a factor in cardiovascular morphogenesis, this is not an area in which we can afford to remain in the dark. This review seeks to present the case for the importance of research into the biomechanics of the developing cardiovascular system...
May 14, 2018: Progress in Biophysics and Molecular Biology
https://www.readbyqxmd.com/read/29769508/total-colonic-duplication-associated-with-anorectal-malformation-in-a-male-boy
#10
L H Chowdhury, U K Nag, N A Sheuli, U Roy
Complete colorectal tubular duplication is very rare congenital anomaly and its association with anorectal malformation is extremely rare. Preoperative diagnosis is very difficult and management is also challenging. We report a case of a newborn present as a bucket handle variety of anorectal malformation which was per-operatively diagnosed as an ARM with rectal duplication. At his 14th months of age on laparotomy patient was diagnosed as a case of ARM with total colonic duplication with single appendix. We managed the case successfully without extensive bowel resection in staged procedure...
April 2018: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/29767906/use-of-crack-in-pregnancy-repercussions-for-the-newborn
#11
Daiani Modernel Xavier, Giovana Calcagno Gomes, Juliane Portella Ribeiro, Marina Soares Mota, Simone Quadros Alvarez
OBJECTIVES: To know the effects for the newborn of the use of crack in pregnancy. METHODS: This is a qualitative study conducted in a university hospital in southern Brazil, in the first half of 2014. Fifteen mothers crack users and five grandparents participated. The data were produced through semi-structured interviews and later submitted to content analysis. RESULTS: It was found that the use of crack in pregnancy leads to repercussions related to the health of the newborn and repercussions related to family restructuring...
October 2017: Investigación y Educación en Enfermería
https://www.readbyqxmd.com/read/29767556/hydronephrosis-is-associated-with-elevated-plasmin-in-urine-in-pediatric-patients-and-rats-and-changes-in-ncc-and-%C3%AE-enac-abundance-in-rat-kidney
#12
Rikke Zachar, Ammar Al-Mashhadi, Henrik Dimke, Per Svenningsen, Boye L Jensen, Mattias Carlström
Obstruction of urine flow at the level of the pelvo-ureteric junction (UPJO) and subsequent development of hydronephrosis is one of the most common congenital renal malformations. UPJO is associated with development of salt-sensitive hypertension, which is set by the obstructed kidney, and with a stimulated renin-angiotensin-aldosterone system (RAAS) in rodent models. This study aimed at investigating the hypothesis that i) in pediatric patients with UPJO the RAAS is activated prior to surgical relief of the obstruction; ii) in rats with UPJO the RAAS activation is reflected by increased abundance of renal aldosterone-stimulated Na+ transporters; and iii) the injured UPJO kidney allows aberrant filtration of plasminogen leading to proteolytic activation of the epithelial sodium channel gamma subunit (γ-ENaC)...
May 16, 2018: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29766597/a-functional-assay-for-the-clinical-annotation-of-genetic-variants-of-uncertain-significance-in-diamond-blackfan-anemia
#13
Anna Aspesi, Marta Betti, Marika Sculco, Chiara Actis, Cristina Olgasi, Marcin W Wlodarski, Adrianna Vlachos, Jeffrey M Lipton, Ugo Ramenghi, Claudio Santoro, Antonia Follenzi, Steven R Ellis, Irma Dianzani
Diamond-Blackfan anemia (DBA) is a rare genetic hypoplasia of erythroid progenitors characterized by mild to severe anemia and associated with congenital malformations. Clinical manifestations in DBA patients are quite variable and genetic testing has become a critical factor in establishing a diagnosis of DBA. The majority of DBA cases are due to heterozygous loss-of-function mutations in ribosomal protein (RP) genes. Causative mutations are fairly straightforward to identify in the case of large deletions and frameshift and nonsense mutations found early in a protein coding sequence, but diagnosis becomes more challenging in the case of missense mutations and small in-frame indels...
May 15, 2018: Human Mutation
https://www.readbyqxmd.com/read/29762087/genomics-and-epigenomics-of-congenital-heart-defects-expert-review-and-lessons-learned-in-africa
#14
Nicholas Ekow Thomford, Kevin Dzobo, Nana Akyaa Yao, Emile Chimusa, Jonathan Evans, Emmanuel Okai, Paul Kruszka, Maximilian Muenke, Gordon Awandare, Ambroise Wonkam, Collet Dandara
Congenital heart defects (CHD) are structural malformations found at birth with a prevalence of 1%. The clinical trajectory of CHD is highly variable and thus in need of robust diagnostics and therapeutics. Major surgical interventions are often required for most CHDs. In Africa, despite advances in life sciences infrastructure and improving education of medical scholars, the limited clinical data suggest that CHD detection and correction are still not at par with the rest of the world. But the toll and genetics of CHDs in Africa has seldom been systematically investigated...
May 2018: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/29761492/c7-vertebra-homeotic-transformation-in-domestic-dogs-are-pug-dogs-breaking-mammalian-evolutionary-constraints
#15
J Brocal, S De Decker, R José-López, E G Manzanilla, J Penderis, C Stalin, S Bertram, J J Schoenebeck, C Rusbridge, N Fitzpatrick, R Gutierrez-Quintana
The number of cervical vertebrae in mammals is almost constant at seven, regardless of their neck length, implying that there is selection against variation in this number. Homebox (Hox) genes are involved in this evolutionary mammalian conservation, and homeotic transformation of cervical into thoracic vertebrae (cervical ribs) is a common phenotypic abnormality when Hox gene expression is altered. This relatively benign phenotypic change can be associated with fatal traits in humans. Mutations in genes upstream of Hox, inbreeding and stressors during organogenesis can also cause cervical ribs...
May 14, 2018: Journal of Anatomy
https://www.readbyqxmd.com/read/29760780/derivative-chromosomes-involving-5p-large-rearranged-segments-went-unnoticed-with-the-use-of-conventional-cytogenetics
#16
Emiy Yokoyama, Victoria Del Castillo, Silvia Sánchez, Sandra Ramos, Bertha Molina, Leda Torres, María José Navarro, Silvia Avila, José Luis Castrillo, Benilde García-De Teresa, Bárbara Asch, Sara Frías
Background: In countries where comparative genomic hybridization arrays (aCGH) and next generation sequencing are not widely available due to accessibility and economic constraints, conventional 400-500-band karyotyping is the first-line choice for the etiological diagnosis of patients with congenital malformations and intellectual disability. Conventional karyotype analysis can rule out chromosomal alterations greater than 10 Mb. However, some large structural abnormalities, such as derivative chromosomes, may go undetected when the analysis is performed at less than a 550-band resolution and the size and banding pattern of the interchanged segments are similar...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29758005/a-review-of-the-ongoing-research-on-zika-virus-treatment
#17
REVIEW
Suely da Silva, Daniel Oliveira Silva Martins, Ana Carolina Gomes Jardim
The Zika fever is an arboviral disease resulting from the infection with Zika virus (ZIKV). The virus is transmitted to humans by the bite of Aedes mosquitos, mainly Aedes aegypti and Aedes albopictus . ZIKV has been detected for decades in African and Asian regions and, since 2007, has spread to other continents; among them, infections are most reported in the Americas. This can be explained by the presence of vectors in highly populated and tropical regions where people are susceptible to contamination. ZIKV has been considered by the World Health Organization a serious public health problem because of the increasing number of cases of congenital malformation and neurological disorders related to its infection, such as microcephaly, Guillain⁻Barré syndrome, meningoencephalitis, and myelitis...
May 14, 2018: Viruses
https://www.readbyqxmd.com/read/29754832/ondansetron-in-pregnancy-and-the-risk-of-congenital-malformations-a-systematic-review
#18
Melissa Lavecchia, Radha Chari, Sandra Campbell, Sue Ross
OBJECTIVE: Ondansetron, not approved for use in pregnancy, is increasingly being prescribed for nausea and vomiting in pregnancy and hyperemesis gravidarum. A number of recent lawsuits have highlighted the possibility that ondansetron may cause congenital malformations. The aim of this study was to systematically review epidemiological evidence on the potential association of prenatal exposure to ondansetron and congenital malformations. METHODS: Systematic searches in Medline and Embase were performed in June 2017 using controlled vocabulary and key words, and references of search results were reviewed...
May 10, 2018: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/29754141/unilateral-lung-agenesis-hiatal-hernia-and-atrioventricular-septal-defect-a-rare-combination-of-congenital-anomalies
#19
Sudheer R Gorla, Josaura Fernandez-Sanchez, Ashish Garg, Sethuraman Swaminathan
Unilateral lung agenesis is a relatively rare congenital anomaly with a reported incidence of 1 in 15 000 births. It is frequently associated with other congenital malformations. Some of the sequelae of lung agenesis are potentially life-threatening. Here, we report a case of left lung agenesis in association with hiatal hernia and atrioventricular septal defect, a rare combination of anomalies which have not been described previously in the literature.
May 12, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29753526/prenatally-versus-postnatally-diagnosed-congenital-diaphragmatic-hernia-side-stage-and-outcome
#20
Carmen Mesas Burgos, Björn Frenckner, Matias Luco, Matthew T Harting, Pamela A Lally, Kevin P Lally
AIM: To compare outcomes between prenatally and postnatally diagnosed CDH in a large multicenter database of prospectively collected data and evaluate factors associated with poorer outcome for prenatally diagnosed CDH. MATERIAL AND METHODS: We used information from the multicenter, multinational CDH Study Group database on patients born between 2007 and 2015. We compared differences between prenatally and postnatally diagnosed CDH with respect to survival, side, size, ECMO needs, associated major cardiac malformations and liver position...
April 14, 2018: Journal of Pediatric Surgery
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