Results 51 to 60 of about 4,013 (133)

Safety and Effectiveness of Pharmacy Compounded Chenodeoxycholic Acid Capsules for Patients With Cerebrotendinous Xanthomatosis

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Chenodeoxycholic acid (CDCA) is an essential drug for patients with rare metabolic disease cerebrotendinous xanthomatosis (CTX). To ensure continuation of treatment, the Amsterdam UMC hospital pharmacy developed pharmacy compounded CDCA capsules when the authorized CDCA capsules were no longer available for Dutch patients.
Natalja Bouwhuis, Soumia Majait, Yasmin Polak, Aylene de Jong, Bart A. W. Jacobs, Frédéric M. Vaz, Willemijn G. Leen, E. Marleen Kemper, Eleonora L. Swart, Carla E. M. Hollak   +9 more
wiley   +1 more source

Long-standing, Untreated Case of Autosomal Recessive Hypercholesterolemia in a Child

Indian Pediatrics Case Reports
Background: Autosomal recessive hypercholesterolemia (ARH), a genetic disorder of the affecting lipid metabolism. We present a child with this disorder wo was long undiagnosed, for many years.
Neha Goel, Akash Kumar, Suhail Chhabra, Nidhi Chopra, Meetu Agrawal   +4 more
doaj   +1 more source

Necrotising Infundibular Crystalline Folliculitis: A Rare Case With a Microscopic Abundance of Yeasts

JEADV Clinical Practice, Volume 5, Issue 1, Page 231-233, March 2026.
ABSTRACT A 66‐year‐old man presented with a 5‐year history of recurrent pruritic, waxy folliculocentric papules on his trunk which worsened during winter and minimally responded to selenium sulphide shampoo and topical corticosteroids. Skin biopsy demonstrated a dilated follicular infundibulum containing abundant yeasts and amorphous material with ...
Brandon Tan, Karen Cheung, Alexis Daniel Lara Rivero   +2 more
wiley   +1 more source

CLINICAL GUIDELINES FOR FAMILIAL HYPERCHOLESTEROLEMIA

Атеросклероз, 2019
These guidelines represent all current aspects of etiology, diagnosis, and treatment of the clinical and statistical group of familial hypercholesterolemia in both adults and children in accordance with the requirements of the Ministry of Health of ...
M. V. Ezhov, S. S. Bazhan, A. I. Ershova, A. N. Meshkov, A. A. Sokolov, V. V. Kukharchuk, V. S. Gurevich, M. I. Voevoda, I. V. Sergienko, E. V. Shakhtshneider, S. N. Pokrovsky, G. A. Konovalov, I. V. Leontyeva, V. O. Konstantinov, M. Yu. Shcherbakova, I. N. Zakharova, T. V. Balakhonova, A. E. Filippov, N. M. Akhmedzhanov, O. Yu. Aleksandrova, B. M. Lipovetsky   +20 more
doaj  

Artificial Intelligence in Gastrointestinal Disease Diagnosis: A Systematic Review of Endoscopy, Histology, and Radiology Applications

WIREs Data Mining and Knowledge Discovery, Volume 16, Issue 1, March 2026.
Overview of artificial intelligence applications in gastrointestinal disease diagnosis across multiple imaging modalities. The workflow illustrates the progression from image acquisition through preprocessing, feature extraction/learning, and classification/segmentation to clinical applications.
Sameena Pathan, Alen Shahini, Massimo Salvi, Tanweer Ali, Jovita Relasha Lewis, Filippo Molinari, U. Rajendra Acharya   +6 more
wiley   +1 more source

Early‐onset familial hypercholesterolemia: A case of extensive xanthomas and premature coronary artery disease

Clinical Case Reports
Key Clinical Message Early recognition and management of familial hypercholesterolemia (FH) are crucial, especially in patients with extensive xanthomas and premature coronary artery disease.
Harsimran Kalsi, Ankur Singla, Sukhjot Kaur, Amogh Verma, Nathnael Abera Woldehana, Sarvesh Rustagi, Mahendra Pratap Singh   +6 more
doaj   +1 more source

Development and Validation of an Individualized Nomogram to Identify Undifferentiated‐Predominant Mixed‐Type Early Gastric Cancer

Journal of Digestive Diseases, Volume 27, Issue 3-4, Page 118-128, March-April 2026.
This study identified open‐type atrophic gastritis, flat or depressed morphology, faded appearance, tumor location on the greater curvature or anterior wall, xanthoma, and previous Helicobacter pylori eradication as independent risk factors for undifferentiated‐type‐predominant mixed‐type early gastric cancer (UM‐EGC).
Lin Lin Shao, Yu Miao Zheng, Qian Zhang, Chuan Guo Guo, Peng Li   +4 more
wiley   +1 more source

Cerebrotendinous xanthomatosis-a case report with novel compound heterozygous mutation of CYP27A1 gene

Dermatologica Sinica, 2018
Cerebrotendinous xanthomatosis (CTX), a rare autosomal recessive lipid storage disorder which is caused by mutations in gene CYP27A1 leads to deficiency of enzyme sterol 27-hydroxylase.
Jeng Yuan, Pi-Shan Sung, Julia Yu-Yun Lee, Sheau-Chiou Chao   +3 more
doaj   +1 more source

Two Cases of Rectal Xanthoma Presenting as Yellowish to Whitish Lesions during Colonoscopy

Case Reports in Gastrointestinal Medicine, 2017
Two cases of rectal xanthomas are described. One case is that of a 56-year-old Japanese man in whom multiple yellowish spots measuring approximately 3 to 5 mm were observed in the rectum during colonoscopy.
Masaya Iwamuro, Takehiro Tanaka, Daisuke Takei, Yuusaku Sugihara, Keita Harada, Sakiko Hiraoka, Yoshiro Kawahara, Hiroyuki Okada   +7 more
doaj   +1 more source

Xanthomas Regression in an 8-Year-Old Boy Treated With Lomitapide

JACC: Case Reports, 2019
This case reports on an 8-year-old boy with homozygous familial hypercholesterolemia with large tuberous xanthomas over his hands, elbows, buttocks, knees, and feet.
Genovefa Kolovou, MD, PhD, Aleksandros Tsoutsinos, MD, Irene Mastorakou, MD, MSc, PhD, Sophie Mavrogeni, MD, PhD, George Hatzigeorgiou, MD   +4 more
doaj   +1 more source