Results 31 to 40 of about 7,571 (244)

Early results of a low-profile stent-graft for thoracic endovascular aortic repair.

PLoS ONE, 2020
PurposeTo assess outcomes of a low-profile thoracic stent-graft in the treatment of thoracic aortic pathologies.MethodsA retrospective analysis of all consecutive patients with aortic thoracic pathologies treated with the RelayPro device in two ...
Hazem El Beyrouti, Mario Lescan, Marco Doemland, Migdat Mustafi, Florian Jungmann, Tobias Jorg, Nancy Halloum, Bernhard Dorweiler   +7 more
doaj   +1 more source

Clinical discussion of the arteria lusoria: a case report

Jornal Vascular Brasileiro, 2017
The right subclavian artery may originate from the left portion of the aortic arch. This aberrant vessel is known as the arteria lusoria. Its course to its usual site runs behind the esophagus, which may cause a disease known as dysphagia lusoria ...
Tulio Fabiano de Oliveira Leite, Lucas Alves Sarmento Pires, Rafael Cisne, Marcio Antonio Babinski, Carlos Alberto Araujo Chagas   +4 more
doaj   +1 more source

6q21–22 deletion syndrome with interrupted aortic arch [PDF]

Human Genome Variation, 2015
Interstitial deletion of 6q21-22 has been previously reported in 11 individuals, who presented with intellectual disability, facial dysmorphism, cardiac abnormality, cerebellar hypoplasia and dysplasia of the corpus callosum. Here, we report the first instance of a patient with 6q21-22 deletion presenting with interrupted aortic arch in addition to the
Takaomi Minami, Ayumi Matsumoto, Hirohiko Shiraishi, Takanori Yamagata, Yasuyuki Nozaki, Eriko F. Jimbo   +5 more
openaire   +3 more sources

Cervical aortic arch in a patient with Turner's syndrome.

Diagnostic and Interventional Radiology, 2008
We report a case of a young girl with Turner syndrome presenting with a pulsatile left-sided supraclavicular swelling since birth, which proved to be the rare anomaly of a cervical aortic arch. Though elongation of the transverse aortic arch is well known in Turner syndrome, to the best of our knowledge, a cervical aortic arch has not been described in
Elizabeth Joseph, Shyamkumar N. Keshava, Oommen George, Rekha S Cherian   +3 more
openaire   +2 more sources

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter, Kristin Schneider, Nkiru Ezeakudo, Darcy A. Krueger, Tomoyuki Mizuno, Timothy K. Knilans, David N. Franz   +6 more
wiley   +1 more source

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat   +8 more
wiley   +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

Isolation of the left brachiocephalic artery revisited: A 52-year literature review and introduction of a novel anatomic-clinical-prognostic classification

Annals of Pediatric Cardiology, 2019
Isolation of the left brachiocephalic artery (ILBA) is an extremely rare anomaly of aortic arch with diverse manifestations in the neurologic system, heart, and left upper arm.
Elaheh Malakan Rad, Hamid Reza Pouraliakbar   +1 more
doaj   +1 more source