Results 71 to 80 of about 5,906 (226)
Clinical Case Reports, Volume 13, Issue 7, July 2025.ABSTRACT This case highlights the importance of considering rare conditions like Mounier‐Kuhn Syndrome in patients with chronic respiratory symptoms, especially in regions with high tuberculosis prevalence. Enhanced awareness and advanced imaging are vital for accurate diagnosis and effective management of such conditions.
Girma Deshimo, Enguday Demeke
wiley +1 more source
Frontiers in Cardiovascular Medicine, 2021 Aortic diseases requiring surgery in childhood are distinctive and rare. Very few reports in the literature account for the occurrence of multiple thoracic aortic aneurysms in the same pediatric patient because of a genetic cause.
Paul Thomas +8 more
doaj +1 more source
Journal of Cosmetic Dermatology, Volume 24, Issue 7, July 2025.ABSTRACT Purpose This study aims to explore the mechanism of Bazi Bushen Capsule (BZBS) in treating skin laxity by combining network pharmacology and clinical research. Methods The active ingredients and potential drug targets of BZBS were obtained from TCMSP, TCMBANK, and SuperTCM databases.
Mo Zhao +12 more
wiley +1 more source
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities [PDF]
, 2018 Pyrroline-5-carboxylate reductase 1 (PYCR1) catalyzes the last step in proline synthesis. Deficiency of PYCR1, caused by a defect in PYCR1, was recently described in patients with cutis laxa, intrauterine growth retardation, developmental dysplasia of ...
Baumer, Alessandra +9 more
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A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment. [PDF]
, 2017 Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. However, even if pathologic events resulting in both megalencephaly and macrocephaly may coexist, a distinction between these ...
Corsello G +6 more
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Giant Bladder Diverticulum in A Female Infant Mimicking Intraperitoneal Mass
Clinical Case Reports, Volume 13, Issue 6, June 2025.ABSTRACT Urinary bladder diverticula can be either primary (congenital) or secondary (acquired) and are more commonly observed in males, sometimes in association with syndromes. The condition presents with a wide range of symptoms, while some cases may remain asymptomatic.
Jay Lodhia +4 more
wiley +1 more source
Meretojan taudista uutta tietoa kansallisen potilasrekisterin avulla [PDF]
, 2016 Tiedot Meretojan taudin eli suomalaisen perinnöllisen gelsoliiniamyloidoosin taudinkulusta ovat tähän saakka perustuneet suhteellisen pieniin potilassarjoihin.
Atula, Sari +3 more
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From variome to phenome : pathogenesis, diagnosis and management of ectopic mineralization disorders [PDF]
, 2015 Ectopic mineralization - inappropriate biomineralization in soft tissues - is a frequent finding in physiological aging processes and several common disorders, which can be associated with significant morbidity and mortality.
De Vilder, eva, Vanakker, Olivier
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گزارش 1 مورد Cutis Laxa همراه با دررفتگی دو طرفه مفصل ران [PDF]
, 2002 کوتيس لاکسا يک بيماری ارثی است که از 2 طريق اتوزومال غالب و مغلوب منتقل میشود. شکل اکتسابی اين بيماری به دنبال يک بيماری تبدار يا التهاب پوستی ايجاد میشود.
عبدی, علی اکبر
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Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan
JIMD Reports, Volume 66, Issue 3, May 2025.ABSTRACT Congenital disorders of glycosylation (CDG) are a heterogeneous group of diseases caused by defects in various steps of the glycosylation pathway. There are over 200 known human glycosylation‐related disorders. Many of these defects lead to multisystemic manifestations, commonly involving the central nervous system, with symptoms ranging from ...
Nobuhiko Okamoto +2 more
wiley +1 more source