Results 91 to 100 of about 7,571 (244)

Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management

American Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.
ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina, Sonia Khirani, Lucie Griffon, Clément Poirault, Raffaella Nenna, Fabio Midulla, Brigitte Fauroux   +6 more
wiley   +1 more source

Vascular Anomalies in Children Misdiagnosed with Asthma : Case series

Sultan Qaboos University Medical Journal, 2015
In most asthmatic children, inhaled steroids can relieve and control the symptoms of asthma. Persistent wheezing and respiratory symptoms in young children despite appropriate treatment may indicate other diagnostic considerations.
Hashim Javad, Khalfan Al-Sineidi, Anas A. Abdelmogheth, Dilip Sankhla, Humoud Al-Dhuhli, Sinan I. Azzawi, Mohamed A. El-Naggari   +6 more
doaj  

Surgery for patients with Marfan syndrome with type A dissection involving the aortic arch using total arch replacement combined with stented elephant trunk implantation: The acute versus the chronic [PDF]

, 2011
Lizhong Sun, Ming Li, Jun‐Ming Zhu, Yongmin Liu, Qian Chang, Jun Zheng, Rui-Dong Qi   +6 more
openalex   +1 more source

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss‐of‐Function Missense Variant in NPR3

American Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.
ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt, Chantal Janelle, Valancy Miranda, Ghalib Bardai, Frank Rauch   +4 more
wiley   +1 more source

Klippel-Feil syndrome and supra-aortic arch anomaly: A case report [PDF]

, 2011
Ayilam S Sudhakar, Vinh Nguyen, John B. Chang   +2 more
openalex   +1 more source

Aortic arch aneurysm with dissection in Cushing syndrome [PDF]

The Journal of Thoracic and Cardiovascular Surgery, 2004
Naomasa Yoshida, Takuya Yamada, Yukio Umeda, Hisato Takagi, Yoshio Mori, Yukiomi Fukumoto, Maiko Furukawa   +6 more
openaire   +3 more sources

Role for inflammatory markers in predicting right ventricular failure in mechanical assist device recipients

ESC Heart Failure, Volume 12, Issue 4, Page 2608-2620, August 2025.
Abstract Right ventricular failure (RVF) is a common complication following left ventricular assist device (LVAD) implantation and increases patient morbidity and mortality. Due to the complex and limited understanding of RVF pathophysiology, efforts to prognosticate RVF after LVAD have been challenging.
Abdul‐Fatawu Osman, Shane S. Scott, Ebubechukwu O. Ezeh, Evans Osuji, Israel O. Ailemen, Mohamed H. Derbala, Salil Kumar, Asvin M. Ganapathi, Daniel B. Sims, Ashrith Guha, Bryan A. Whitson, Sakima A. Smith   +11 more
wiley   +1 more source

Prenatal Characterization of Houge–Janssens Syndrome Type 2: A Case Report and Systematic Review of Fetal Phenotypes Associated With PPP2R1A Mutations

Molecular Genetics &Genomic Medicine, Volume 13, Issue 8, August 2025.
We present the most comprehensive synthesis to date of prenatal phenotypes associated with PPP2R1A‐related neurodevelopmental disorders. Ventriculomegaly, callosal anomalies, and heart defects are key prenatal indicators, supporting early diagnosis and informed genetic counseling.
Jiancheng Hu, Jialun Pang, Lin Zhou, Haiyan Kuang, Wenxian Yu, Ying Peng   +5 more
wiley   +1 more source

Congenital Cardiac, Aortic Arch, and Vascular Bed Anomalies in PHACE Syndrome (from the International PHACE Syndrome Registry) [PDF]

, 2013
Michelle L. Bayer, Peter C. Frommelt, Francine Blei, Johannes M. P. J. Breur, Maria Cordisco, Ilona J. Frieden, Deborah S. Goddard, Kristen E. Holland, Alfons L. Krol, Mohit Maheshwari, Denise W. Metry, Kimberly D. Morel, Paula E. North, Elena Pope, Joseph T.C. Shieh, James F. Southern, Orli Wargon, Dawn H. Siegel, Beth A. Drolet   +18 more
openalex   +1 more source

Breathing and balance: Clinical insights and management strategies of respiratory acid‐base disorders

Nutrition in Clinical Practice, Volume 40, Issue 4, Page 774-792, August 2025.
Abstract Respiratory acidosis and alkalosis are two of the four main acid‐base processes encountered in clinical practice. These two processes are tightly balanced by breathing. Identification and management of respiratory acid‐base disorders are important for clinicians, particularly when caring for patients with underlying pulmonary and neurological ...
Anne M. Tucker, Tami N. Johnson
wiley   +1 more source