Results 151 to 160 of about 369,336 (315)

Pulmonary artery aneurysm: case report and experience of our center [PDF]

This is a case report about pulmonary artery aneurysm. Surgery is inadequate for patients with severe primary pulmonary hypertension, in whom there is widespread injury to the pulmonary arterioles; in these patients the only solution is lung ...
Daniele Trombetti, Pisano, Calogera, Laura Asta, Altieri, Claudia, Claudia Altieri, Maria Ferrante, Calogera Pisano, Asta, Laura, Giovanni Rivolo, Trombetti, Daniele, Rivolo, Giovanni, Paolo Nardi, Nardi, Paolo, Ferrante, Maria   +13 more
core   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

One and a half ventricle repair: clinical and animal study [PDF]

, 2013
SUMMARY Since the first description of the so called “one and a half ventricle repair”, published by Billingsly et al. in 1989 1, this type of correction has been applied to several complex congenital cardiac anomalies.
Bhattarai, Anil
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Multiple Venous and Pulmonary Artery Thrombosis as a Presenting Complaint of Nephrotic Syndrome-Case Report and Challenges in Management

, 2022
Hawa Nuradin Mohamed,1 Ahmed Muhammad Bashir,1 Yahye Garad Mohamed2 1Department of Internal Medicine, Mogadishu Somali Turkey, Training and Research Hospital, Mogadishu, Somalia; 2Department of Radiology, Mogadishu Somali Turkey, Training and Research ...
Mohamed HN, Bashir AM, Mohamed YG
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Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Acute necrotising pulmonary vasculitis and pulmonary hypertension in a juvenile dog

, 2008
A five-month-old female Jack Russell terrier was presented for investigation of acute lethargy, anorexia, coughing, respiratory distress and weakness. Examination findings included cyanosis, a grade 3 of 6 systolic heart murmur and prolonged capillary ...
Russell, N.J., Nicholls, P.K., Olivry, T., Irwin, P.J., Hopper, B.J.   +4 more
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Consolidation in the right middle lobe in pediatric bronchial–pulmonary artery shunt: radiology’s Aunt Minnie? [PDF]

PURPOSE: By retrospectively studying the chest computed tomography (CT) data of children with bronchial artery (BA)–pulmonary artery fistula, this study summarizes the characteristic imaging features of the disease and provides imaging support for the ...
Chi Wang, Yuchun Yan, Yun Peng, Zihan Wang, Xinyu Yuan, Rongchang Wu, Shuai Ma   +6 more
core   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source