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1986 1
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Page 1
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.
Colombi M, Dordoni C, Chiarelli N, Ritelli M. Colombi M, et al. Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. Am J Med Genet C Semin Med Genet. 2015. PMID: 25821090 Review.
In this review, we revise the differential diagnosis of JHS/EDS-HT with those heritable connective tissue disorders which show a significant overlap with the former and mostly include EDS classic, vascular and kyphoscoliotic types, osteogenesis imperfecta, Marfan syndrome, …
In this review, we revise the differential diagnosis of JHS/EDS-HT with those heritable connective tissue disorders which show a significant …
Single Ventricle and Total Anomalous Pulmonary Venous Connection: Implications of Prenatal Diagnosis.
Hancock HS, Romano JC, Armstrong A, Yu S, Lowery R, Gelehrter S. Hancock HS, et al. World J Pediatr Congenit Heart Surg. 2018 Jul;9(4):434-439. doi: 10.1177/2150135118771344. World J Pediatr Congenit Heart Surg. 2018. PMID: 29945508
RESULTS: Thirty-four eligible infants with SV/TAPVC were identified (mean birth weight: 3.0 kg). The TAPVC types were supracardiac (59%), infracardiac (21%), mixed (12%), and cardiac (9%). ...There were two preoperative deaths. Overall survival for the cohort was 65 …
RESULTS: Thirty-four eligible infants with SV/TAPVC were identified (mean birth weight: 3.0 kg). The TAPVC types were supracar …
Diagnosis and management of congenital vascular rings: a 22-year experience.
Chun K, Colombani PM, Dudgeon DL, Haller JA Jr. Chun K, et al. Ann Thorac Surg. 1992 Apr;53(4):597-602; discussion 602-3. doi: 10.1016/0003-4975(92)90317-w. Ann Thorac Surg. 1992. PMID: 1554267 Free article.
Right arch with aberrant left subclavian artery and double aortic arch were the most common types (11 each). Treatment of an aortic diverticulum was documented in 19 patients; the aortic diverticulum was excised (9), managed by aortopexy (7), or left in situ (3). .. …
Right arch with aberrant left subclavian artery and double aortic arch were the most common types (11 each). Treatment of an aortic d …
Dynamic evolution of practice guidelines: analysis of deviations from assessment and management plans.
Farias M, Friedman KG, Powell AJ, de Ferranti SD, Marshall AC, Brown DW, Kulik TJ. Farias M, et al. Pediatrics. 2012 Jul;130(1):93-8. doi: 10.1542/peds.2011-3811. Epub 2012 Jun 4. Pediatrics. 2012. PMID: 22665413 Free PMC article.
For 3 different pediatric cardiac diagnoses managed by SCAMPs, we determined the frequency of, types of, and reasons for DEVs, which are considered to be a valuable source of information and innovation. ...CONCLUSIONS: The overall low rate of NJ DEV suggests that pr …
For 3 different pediatric cardiac diagnoses managed by SCAMPs, we determined the frequency of, types of, and reasons for DEVs, …
Improving maternal-infant bonding after prenatal diagnosis of CHD.
Barker PCA, Tatum GH, Campbell MJ, Camitta MGW, Milazzo AS, Hornik CP, French A, Miller SG. Barker PCA, et al. Cardiol Young. 2018 Nov;28(11):1306-1315. doi: 10.1017/S104795111800121X. Epub 2018 Aug 6. Cardiol Young. 2018. PMID: 30079851 Free PMC article.
BACKGROUND: Infants with prenatally diagnosed CHD are at high risk for adverse outcomes owing to multiple physiologic and psychosocial factors. Lack of immediate physical postnatal contact because of rapid initiation of medical therapy impairs maternal-infant bondin …
BACKGROUND: Infants with prenatally diagnosed CHD are at high risk for adverse outcomes owing to multiple physiologic and psychosocia …
Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe.
Wellesley D, Dolk H, Boyd PA, Greenlees R, Haeusler M, Nelen V, Garne E, Khoshnood B, Doray B, Rissmann A, Mullaney C, Calzolari E, Bakker M, Salvador J, Addor MC, Draper E, Rankin J, Tucker D. Wellesley D, et al. Eur J Hum Genet. 2012 May;20(5):521-6. doi: 10.1038/ejhg.2011.246. Epub 2012 Jan 11. Eur J Hum Genet. 2012. PMID: 22234154 Free PMC article.
The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. ...In all, 473 cases (5%) had a sex chromosome trisomy, and 778 (8%) had …
The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusi …
Prenatal ultrasonic diagnosis of fetal thoracic and intrathoracic abnormalities.
Meizner I, Bar-Ziv J, Insler V. Meizner I, et al. Isr J Med Sci. 1986 May;22(5):350-4. Isr J Med Sci. 1986. PMID: 3528048
Seventeen cases of different types of fetal thoracic and intrathoracic abnormalities were diagnosed prenatally by ultrasound: nonimmune hydrops (5 cases), diaphragmatic hernia (3), Potter's syndrome (3), chylothorax (1), exstrophy of the cloaca (1), the extre …
Seventeen cases of different types of fetal thoracic and intrathoracic abnormalities were diagnosed prenatally by ultrasound: nonimmu …
Pregnancy outcomes of reciprocal translocation carriers with two or more unfavorable pregnancy histories: before and after preimplantation genetic testing.
Huang C, Jiang W, Zhu Y, Li H, Lu J, Yan J, Chen ZJ. Huang C, et al. J Assist Reprod Genet. 2019 Nov;36(11):2325-2331. doi: 10.1007/s10815-019-01585-9. Epub 2019 Sep 14. J Assist Reprod Genet. 2019. PMID: 31522368 Free PMC article.
Of these pregnancies, 13 (11.0%) were miscarriages, 101 (85.6%) were normal live births, and 4 (3.4%) had birth defects. In total, 14 different disorders were noted in the prenatal and postnatal examinations. Before the PGT-SR treatment, multiple birth def …
Of these pregnancies, 13 (11.0%) were miscarriages, 101 (85.6%) were normal live births, and 4 (3.4%) had birth defects. In to …
Impact of prenatal diagnosis on livebirth prevalence of children with congenital anomalies.
Stoll C, Alembik Y, Dott B, Roth MP. Stoll C, et al. Ann Genet. 2002 Jul-Sep;45(3):115-21. doi: 10.1016/s0003-3995(02)01130-9. Ann Genet. 2002. PMID: 12381440
Sensitivity varied with the type of malformations: it was high for neural tube defect (79.7%) and urinary anomalies (50.7%) and low for congenital heart defects (16.4%). In conclusion, the introduction of routine prenatal diagnosis has resulted in a significa …
Sensitivity varied with the type of malformations: it was high for neural tube defect (79.7%) and urinary anomalies (50.7%) and low for c …
The prospective follow-up of the natural course of interatrial communications diagnosed in 847 newborns.
Bostan OM, Cil E, Ercan I. Bostan OM, et al. Eur Heart J. 2007 Aug;28(16):2001-5. doi: 10.1093/eurheartj/ehm268. Epub 2007 Jul 10. Eur Heart J. 2007. PMID: 17623678
METHODS AND RESULTS: Between 2000 and 2001, a total of 1100 asymptomatic and term newborns were evaluated. Those who had congenital heart diseases and failed to attend the follow-up visits were excluded from the study. ...Those with ASA should be followed-up regular …
METHODS AND RESULTS: Between 2000 and 2001, a total of 1100 asymptomatic and term newborns were evaluated. Those who had congenital …
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