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32 results

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Page 1
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.
Chen F, Wei R, Deng D, Zhang X, Cao Y, Pan C, Wang Y, Cao Q, Wang J, Zeng M, Huang L, Gu Y, Yao Z, Li M. Chen F, et al. J Eur Acad Dermatol Venereol. 2023 Feb;37(2):411-419. doi: 10.1111/jdv.18692. Epub 2022 Nov 5. J Eur Acad Dermatol Venereol. 2023. PMID: 36287101
In JEB, unusual phenotypes are frequently observed, notably urinary tract involvement, duodenal atresia and EB nevi. In RDEB, 48.8% of cases with biallelic PTC mutations in COL7A1 exhibited a relatively mild phenotype; they are likely to develop a severe phenotype a …
In JEB, unusual phenotypes are frequently observed, notably urinary tract involvement, duodenal atresia and EB nevi. In RDEB, …
Congenital duodenal obstruction - Advances in diagnosis, surgical management, and associated controversies.
Patterson KN, Cruz S, Nwomeh BC, Diefenbach KA. Patterson KN, et al. Semin Pediatr Surg. 2022 Feb;31(1):151140. doi: 10.1016/j.sempedsurg.2022.151140. Epub 2022 Feb 18. Semin Pediatr Surg. 2022. PMID: 35305801 Review.
Congenital duodenal obstruction (CDO) occurs due to intrinsic and extrinsic mechanisms but is most often caused by intrinsic duodenal atresia and stenosis. ...The clinical presentation, complex diagnostic considerations, and current surgical repair options fo …
Congenital duodenal obstruction (CDO) occurs due to intrinsic and extrinsic mechanisms but is most often caused by intrinsic duode …
Genetic counseling for fetal gastrointestinal anomalies.
Schindewolf E, Moldenhauer JS. Schindewolf E, et al. Curr Opin Obstet Gynecol. 2020 Apr;32(2):134-139. doi: 10.1097/GCO.0000000000000613. Curr Opin Obstet Gynecol. 2020. PMID: 32039977 Review.
However, the genetic cause of how these defects occur and how that may impact a child's lifelong care is less established. Genetic testing has improved significantly in recent years, yet reviews documenting prenatal genetic counseling and testing guidelines have not been c …
However, the genetic cause of how these defects occur and how that may impact a child's lifelong care is less established. Genetic te …
Diagnostic decision-making tool for imaging term neonatal bowel obstruction.
Tsitsiou Y, Calle-Toro JS, Zouvani A, Andronikou S. Tsitsiou Y, et al. Clin Radiol. 2021 Mar;76(3):163-171. doi: 10.1016/j.crad.2020.09.016. Epub 2020 Oct 20. Clin Radiol. 2021. PMID: 33097229 Review.
The commonest causes of low bowel obstruction include anorectal malformations (ARM), Hirschsprung's disease, ileal atresia, meconium ileus, meconium plug, and colonic atresia. The commonest causes of high bowel obstruction include duodenal atresia, …
The commonest causes of low bowel obstruction include anorectal malformations (ARM), Hirschsprung's disease, ileal atresia, meconium …
Prenatal detection of gastrointestinal bubbles since early pregnancy: Clues to correct diagnosis.
Zmora O, Beloosesky R, Khatib N, Ginsberg Y, Gover A, Bronshtein M. Zmora O, et al. Int J Gynaecol Obstet. 2023 Jul;162(1):273-277. doi: 10.1002/ijgo.14666. Epub 2023 Jan 31. Int J Gynaecol Obstet. 2023. PMID: 36637225
Simple cysts represented duodenal atresia (three cases) and a pancreatic cyst (one case). A triple bubble represented duodenal obstruction from Ladd bands in one case. ...Transient bubbles are physiological. Fixed double bubbles might represent either duod …
Simple cysts represented duodenal atresia (three cases) and a pancreatic cyst (one case). A triple bubble represented duode …
Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort.
Altintas B, Giri N, McReynolds LJ, Best A, Alter BP. Altintas B, et al. Haematologica. 2023 Jan 1;108(1):69-82. doi: 10.3324/haematol.2021.279981. Haematologica. 2023. PMID: 35417938 Free PMC article.
Patients with variants in upstream complex pathway had less severe phenotype [lacked VACTERL-H (Vertebral, Anal, Cardiac, Trachea-esophageal fistula, Esophageal/duodenal atresia, Renal, Limb, Hydrocephalus) association and/or PHENOS (Pigmentation, small-Head, small- …
Patients with variants in upstream complex pathway had less severe phenotype [lacked VACTERL-H (Vertebral, Anal, Cardiac, Trachea-esophageal …
Duodenal Atresia: Prenatal Diagnosis and Postnatal Management.
Ogunleye O, Griffin K, Xia J, Jackson J, Etchegaray A, Olutoye O, Diefenbach KA. Ogunleye O, et al. Neoreviews. 2024 Mar 1;25(3):e180-e186. doi: 10.1542/neo.25-3-e180. Neoreviews. 2024. PMID: 38425202 No abstract available.
Primary care of infants and young children with Down syndrome.
Saenz RB. Saenz RB. Am Fam Physician. 1999 Jan 15;59(2):381-90, 392, 395-6. Am Fam Physician. 1999. PMID: 9930130 Free article. Review.
The syndrome has a variable physical expression, but congenital cardiac defects, transient myelodysplasia of the newborn and duodenal atresia are highly specific for this chromosomal disorder. ...Motor, language, social and adaptive skills should be assessed at each …
The syndrome has a variable physical expression, but congenital cardiac defects, transient myelodysplasia of the newborn and duodenal …
Neonatal gastric outlet obstruction by isolated pyloric atresia, an often forgotten diagnosis.
Mboyo A, Clermidi P, Podevin G, Patkowski D, Baglaj M, Gerus S, Lalioui A, Napoli-Cocci Sd, Robert M. Mboyo A, et al. Acta Chir Belg. 2016 Apr;116(2):89-95. doi: 10.1080/00015458.2016.1156930. Acta Chir Belg. 2016. PMID: 27385295
BACKGROUND: Pyloric atresia (PA) is a rare condition, and may be misdiagnosed and especially confused for duodenal atresia pre-operatively. ...Radiological findings were a large gastric air bubble with no gas beyond in all cases. The diagnosis of duodenal …
BACKGROUND: Pyloric atresia (PA) is a rare condition, and may be misdiagnosed and especially confused for duodenal atresia …
Duodenal atresia: associated anomalies, prenatal diagnosis and outcome.
Choudhry MS, Rahman N, Boyd P, Lakhoo K. Choudhry MS, et al. Pediatr Surg Int. 2009 Aug;25(8):727-30. doi: 10.1007/s00383-009-2406-y. Epub 2009 Jun 24. Pediatr Surg Int. 2009. PMID: 19551391
The aim of this study was to describe the prevalence of associated anomalies, prenatal diagnostic accuracy and survival of cases of congenital duodenal atresia in our institution. METHODS: All cases of duodenal atresia registered with our local congeni …
The aim of this study was to describe the prevalence of associated anomalies, prenatal diagnostic accuracy and survival of cases of congenit …
32 results