Results 141 to 150 of about 41,241 (254)

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients

Clinical Genetics, Volume 108, Issue 3, Page 334-346, September 2025.
This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut, Umut Altunoglu, Şahin Avcı, Tuğba Kalaycı, Ayça Dilruba Aslanger, Volkan Karaman, Zehra Oya Uyguner, Hülya Kayserili   +7 more
wiley   +1 more source

Patent Ductus Arteriosus [PDF]

Proceedings of the Royal Society of Medicine, 1952
openaire   +3 more sources

Recent Advances in Deciphering Normal and Diseased Aortic Valve Biology Using Transcriptomic Technologies

Journal of Cellular and Molecular Medicine, Volume 29, Issue 17, September 2025.
ABSTRACT Calcific aortic valve disease (CAVD) is a growing global health burden, with no approved pharmacological treatments to date, indicating a substantial therapeutic gap and the need for deeper insight into its underlying mechanisms. Transcriptomic approaches, particularly RNA sequencing (RNAseq) and single‐cell sequencing (scRNAseq), are emerging
Monica Madalina Tucureanu, Ileana Manduteanu   +1 more
wiley   +1 more source

Hyperglycemia as an atypical finding of malignant hyperthermia: A case report and literature review

Journal of Diabetes Investigation, Volume 16, Issue 9, Page 1767-1770, September 2025.
A 13‐month‐old toddler presented with an atypical symptom – hyperglycemia – during a malignant hyperthermia crisis. During MH, hyperglycemia may result from intracellular calcium leakage in muscle cells, suggesting a potential association between MH susceptibility and hyperglycemia.
Huai‐Jhih Sun, Yuan‐Yi Chia, Yung‐Yun Huang, Jun‐Chen Sun, Chun‐Hsien Wen   +4 more
wiley   +1 more source

Evaluation of Modified Fasting Protocols to Shorten Fasting Time Before Sedation in Children: A Prospective Randomized Noninferiority Trial

Pediatric Anesthesia, Volume 35, Issue 9, Page 753-760, September 2025.
ABSTRACT Backgrounds Guidelines for fasting before procedural sedation aim to prevent pulmonary aspiration and are primarily targeted for deep sedation. Our study explored whether a shortened fasting protocol is noninferior to the standard protocol by comparing gastric contents evaluated by ultrasound.
Eunah Cho, Jinyoung Song, June Huh, I‐Seok Kang, Hyun Ju Kim, In Young Youn, Hyebin Lee, Ji Hee Kwak   +7 more
wiley   +1 more source

Wandering Spleen in a Pediatric Lung Transplant Patient With Filamin A Deficiency: An Incidental Finding

Pediatric Transplantation, Volume 29, Issue 6, September 2025.
ABSTRACT Background Filamin A (FLNA) deficiency is a known cause of progressive lung disease and need for pediatric lung transplant; however, what may be less well known to lung transplant providers are the extrapulmonary complications of FLNA deficiencies, such as wandering spleen.
Savannah Ellis Knight, Mayel Yepez Donado, Maria Carolina Gazzaneo   +2 more
wiley   +1 more source

How to apply the 20 + 2‐planes method for identification of 65 fetal abnormalities during routine second‐trimester fetal ultrasound examination

Ultrasound in Obstetrics &Gynecology, Volume 66, Issue 3, Page 383-396, September 2025.
T. Chudleigh, T. E. Cohen‐Overbeek, for the ISUOG Basic Training Sub‐Committee   +2 more
wiley   +1 more source

Large Patent Ductus Arteriosus in an Adult With Severe Pulmonary Hypertension and Polycythemia: PDA With Severe Pulmonary Hypertension. [PDF]

JACC Case Rep
Langenfeld TL, Sati M, Bocks ML, Agarwal AK.   +3 more
europepmc   +1 more source

Correlation analysis between patent ductus arteriosus and bronchopulmonary dysplasia in premature infants. [PDF]

Ital J Pediatr
Luo H, Liu Y, Yan C, Weng B, Zhao L, Cai C.   +5 more
europepmc   +1 more source

Pulmonary valve endocarditis in the setting of a patent ductus arteriosus: A rare clinical case. [PDF]

Radiol Case Rep
Nour El Houda L, El Ouafi N, Ismaili N.
europepmc   +1 more source