Comparison of echocardiography and 64‐slice spiral computed tomography in the diagnosis of congenital heart disease in children
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Cellular Biochemistry"
DOI: 10.1002/jcb.27682
Abstract: The diagnosis of congenital heart disease in children has been an issue in the medical community. Timely diagnosis and treatment can provide a greater guarantee for children's healthy growth. In recent years, there have been… read more here.
Keywords: diagnosis congenital; diagnosis; heart disease; congenital heart ... See more keywords
Chromosomal microarray in postnatal diagnosis of congenital anomalies and neurodevelopmental disorders in Serbian patients
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.24441
Abstract: Array‐based genomic analysis is a gold standard for the detection of copy number variations (CNVs) as an important source of benign as well as pathogenic variations in humans. The introduction of chromosomal microarray (CMA) has… read more here.
Keywords: neurodevelopmental disorders; microarray postnatal; postnatal diagnosis; chromosomal microarray ... See more keywords
Is renal scintigraphy really a necessity in the routine diagnosis of congenital solitary kidney?
Sign Up to like & getrecommendations! Published in 2019 at "Pediatric Surgery International"
DOI: 10.1007/s00383-019-04478-1
Abstract: BackgroundFor a definitive diagnosis of congenital solitary kidney, renal scintigraphy is suggested as being the gold standard of ruling out ectopic functioning renal tissue, possibly missed by ultrasound. The aim of our study was to… read more here.
Keywords: diagnosis congenital; congenital solitary; renal scintigraphy; solitary kidney ... See more keywords
The utility of next generation sequencing in the correct diagnosis of congenital hypochloremic hypokalemic metabolic alkalosis.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2019.103728
Abstract: Persistent hypokalemic hypochloremic metabolic alkalosis represents a heterogeneous group of genetic disorders of which the most common is Bartter syndrome (BS). BS is an inherited renal tubulopathy caused by defective salt reabsorption in the thick… read more here.
Keywords: alkalosis; diagnosis congenital; metabolic alkalosis; next generation ... See more keywords
Establishing tools for early diagnosis of congenital toxoplasmosis: Flow cytometric IgG avidity assay as a confirmatory test for neonatal screening.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of immunological methods"
DOI: 10.1016/j.jim.2017.08.005
Abstract: The aim of this study was to evaluate the performance of conventional serology (Q-Preven™ and ELFAVIDAS™) and flow cytometry-based serologic tools for early serologic diagnosis of congenital toxoplasmosis. The study groups included prospectively confirmed cases… read more here.
Keywords: avidity; diagnosis congenital; diagnosis; early diagnosis ... See more keywords
Prenatal diagnosis of congenital heart diseases by fetal echocardiography in second trimester: a Chinese multicenter study
Sign Up to like & getrecommendations! Published in 2017 at "Acta Obstetricia et Gynecologica Scandinavica"
DOI: 10.1111/aogs.13085
Abstract: The objective of our study was to evaluate the performance of detailed fetal echocardiography by skilled obstetric physician sonologists in the diagnosis of congenital heart disease (CHD) in a Chinese population. read more here.
Keywords: study; congenital heart; fetal echocardiography; diagnosis congenital ... See more keywords
Prenatal diagnosis of congenital mesoblastic nephroma: a case with poor prognosis
Sign Up to like & getrecommendations! Published in 2019 at "BMJ Case Reports"
DOI: 10.1136/bcr-2019-230297
Abstract: Congenital mesoblastic nephromais a rare tumour found in neonates, with a very small number of cases diagnosed prenatally. We report a case of a fetal renal tumour suspected at 28 weeks’ gestation on routine ultrasound.… read more here.
Keywords: mesoblastic nephroma; weeks gestation; diagnosis congenital; congenital mesoblastic ... See more keywords
Some Limitations for Early Diagnosis of Congenital Chagas Infection by PCR
Sign Up to like & getrecommendations! Published in 2018 at "Pediatrics"
DOI: 10.1542/peds.2016-3719
Abstract: Case report of an infrequent diagnosis of congenital Trypanosoma cruzi infection, causative agent of Chagas disease, negative for parasite diagnosis until 7 months after delivery. Trypanosoma cruzi, the causing agent of Chagas disease, can be… read more here.
Keywords: diagnosis congenital; diagnosis; infection; congenital chagas ... See more keywords