Results 61 to 70 of about 73,086 (343)

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Is medical therapy succesful in hemodynamically significant patent ductus treatment in term newborns?

Northwestern Medical Journal
Aim: To investigate the clinical success of medical patent ductus arteriosus closure treatment for hemodynamically significant patent ductus arteriosus in term babies.
Akan Yaman, İbrahim Kandemir, Zeynep Alp Ünkar, Sinem Gülcan Kersin, Mehmet Tolga Köle, Aslı Çınar Memişoğlu   +5 more
doaj   +1 more source

Unusual Presentation of Patent Ductus Arteriosus in Elderly Patient [PDF]

Brazilian Journal of Cardiovascular Surgery, 2020
We presented a case of a 56-year-old man with giant pulmonary artery aneurysm caused by a misdiagnosed patent ductus arteriosus, severe multivalvular disease and active aortic valve endocarditis successfully treated by surgery.
Slobodan V. Micovic, Ivan M. Nesic, Miroslav D. Milicic, Petar M. Vukovic   +3 more
doaj   +1 more source

Percutaneous closure of the small patent ductus arteriosus using occluding spring coils [PDF]

, 1994
Objectives. This report summarizes our experience with the use of occluding spring coils to close the small patent ductus arteriosus.Background. Several patent ductus arteriosus occluders (most notably the Rashkind device) have been developed and studied.
Cambier, Patrick A., George, Lily, Kirby, William C., Kirkpatrick, Stanley E., Mathewson, James W., Moore, John W., Rothman, Abraham, Slack, Michael C., Spicer, Robert L., Uzark, Karen   +9 more
core   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

Change of size and type of patent ductus arteriosus in a one year old infant during routine echocardiographic study [PDF]

, 2008
There are only very few publications which document reactivity of patent ductus arteriosus. This report documentes the reactivity of a patent arterial duct in a one year old infant, 6.5 kg weight during a routine echocardiographic color Doppler study.
Galal, Mohammed Omar, Sultan, A., Turkistani, H.   +2 more
core   +1 more source

Transcatheter closure of a calcified patent ductus arteriosus in an elderly man [PDF]

, 1988
Successful transcatheter closure of a calcified patent ductus arteriosus was performed in a symptomatic 78 year old man. Cardiac catheterization revealed a left to right shunt across the patent ductus arteriosus with a pulmonary to systemic flow ratio of
Bittl, John A., Lock, James E., Selwyn, Andrew P., Vita, Joseph A.   +3 more
core   +1 more source

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

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source

Tratamiento farmacológico del conducto arterioso permeable en recién nacidos prematuros

Revista de la Facultad de Medicina, 2019
Introducción. Por lo general, el manejo farmacológico del conducto arterioso permeable (CAP) comprende inhibidores no selectivos de la enzima ciclooxigenasa, en especial indometacina e ibuprofeno.
Hellmann Adrián Escobar, Gyhill Meneses-Gaviria, Nataly Revelo-Jurado, Julián Felipe Villa-Rosero, Jhon Edison Ijají Piamba, Alexander Burbano-Imbachí, Anuar Alonso Cedeño-Burbano   +6 more
doaj   +1 more source