Results 91 to 100 of about 8,947 (215)

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, Volume 110, Issue 1, Page 64-72, July 2026.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Pubertal development and hypothalamic–pituitary–gonadal axis are altered in male mice lacking Mecp2

Journal of Neuroendocrinology, Volume 38, Issue 7, July 2026.
Abstract Mutations in the MECP2 gene, encoding the epigenetic reader Methyl‐CpG binding protein 2, are the main cause of Rett syndrome, a rare neurodevelopmental disorder. Besides severe symptoms such as profound intellectual disability, loss of speech and motor skills, and epilepsy, loss of function of MECP2 has been associated with pubertal ...
Ana Martín‐Sánchez, Daniela Jiménez‐Díaz, Rafael Esteve‐Pérez, Alexandru Vasile‐Tudorache, Jordan E. Read, Sasha R. Howard, Carmen Agustín‐Pavón   +6 more
wiley   +1 more source

Psychogenic polydipsia in dogs – a review of pathogenesis, diagnosis and treatment

Journal of Small Animal Practice, Volume 67, Issue 7, Page 580-589, July 2026.
Polyuria and polydipsia represent a common clinical presentation in dogs and may result from numerous disorders affecting different body systems. Compulsive water consumption is characteristic of psychogenic polydipsia, a primary polydipsia disorder rooted in neurologic, behavioural or environmental factors.
G. Pavlovsky
wiley   +1 more source

Survival after endovascular therapy in patients with ruptured thoracic aortic diseases : Results from the Global Registry for Endovascular Aortic Treatment Registry

, 2020
Objective: The Global Registry for Endovascular Aortic Treatment is a prospective observational multicenter cohort registry of all Gore aortic endografts for a variety of aortic pathologies.
Ratnathicam A., Napolitano M., Cook K., Wilderman M., Simonian G., Weaver F., Trimarchi S., O'Connor D. J., Walsh K., Cao L.   +9 more
core   +1 more source

TBX1 gene mutation screening in patients with non-syndromic Fallot tetralogy

The Turkish Journal of Pediatrics, 2007
Fallot tetralogy (FT) is the most frequently observed conotruncal heart defect (CTHD) and accompanies 15% of the 22q11 deletion syndromes, DiGeorge/ velocardiofacial (DGS/VCFS) syndromes.
Feryal Cabuk, Halil G Karabulut, Timur Tuncali, Selmin Karademir, Mithat Bozdayi, Ajlan Tükün   +5 more
doaj  

Off-the-Shelf Devices for Treatment of Thoracic Aortic Diseases: Midterm Follow-up of TEVAR With Chimneys or Physician-Made Fenestrations

, 2020
Purpose: To evaluate the midterm outcomes of thoracic endovascular aortic repair (TEVAR) using chimney grafts (ch-TEVAR) or thoracic stent-grafts with fenestrations made on the back table (f-TEVAR) to treat thoracic aortic dissection (TAD) and thoracic ...
Wu, Meng-Tao, Zhu, Guang-Lang, Li, Hai-Yan, Jing, Zai-Ping, Song, Chao, Yeung, Kak Khee, Lu, Qing-Sheng, Zhang, Lei, Feng, Jia-Xuan   +8 more
core   +1 more source

Total endovascular aortic arch repair: a comprehensive review comparing parallel graft techniques and custom-made devices

Angiologia e Cirurgia Vascular
INTRODUCTION: Endovascular approaches have emerged as promising alternatives for treating aortic arch pathology, particularly in high-risk patients. This review provides a comprehensive analysis of total endovascular aortic arch reconstruction, focusing ...
Patrícia Carvalho, Daniel Brandão, Andreia Coelho, Luís Fernandes, Marta Machado, Francisco Basílio, Beatriz Guimarães, Ana Margarida Rocha, Alexandra Canedo   +8 more
doaj   +1 more source

Case Report A Case of Elderly-Onset Ulcerative Colitis with Large-Vessel Giant Cell Arteritis Treated Successfully with Tofocitinib

Inflammatory Intestinal Diseases
Introduction: Large vessel vasculitis, including Takayasu arteritis and giant cell arteritis (GCA), is a recognized extraintestinal manifestation of ulcerative colitis (UC), but its optimal management remains unclear.
Kotaro Mitsui, Yoh Ishiguro, Naoki Higuchi, Satoko Yamaguchi, Ayako Ishiguro   +4 more
doaj   +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  

Current approach to genetic testing and genetic evaluation referrals for adults with congenital heart disease

Frontiers in Genetics
BackgroundCongenital heart disease (CHD) is the most common congenital anomaly. Up to 33% have an identifiable genetic etiology. Improved medical and surgical management of CHD has translated into longer life expectancy and a rapidly growing population ...
Laura B. Oehlman, Laura B. Oehlman, Laura B. Oehlman, Alexander R. Opotowsky, Alexander R. Opotowsky, Kathryn N. Weaver, Kathryn N. Weaver, Kathryn N. Weaver, Nicole M. Brown, Nicole M. Brown, Cara L. Barnett, Erin M. Miller, Erin M. Miller, Erin M. Miller, Hua He, Amy R. Shikany   +15 more
doaj   +1 more source