Results 71 to 80 of about 6,036 (217)

Beyond Tuberculosis: A Rare Case of Mounier‐Kuhn Syndrome in an Ethiopian Woman With Chronic Cough and Bronchiectasis

open access: yesClinical 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

A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia. [PDF]

open access: yes, 2015
Inguinal hernia repair is one of the most commonly performed operations in the world, yet little is known about the genetic mechanisms that predispose individuals to develop inguinal hernias.
Ahituv, Nadav   +8 more
core   +2 more sources

Efficacy and Mechanism of Bazi Bushen Capsule on Skin Laxity: A Combination of Clinical and Network Pharmacology Study

open access: yesJournal 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

Acquired Localized Cutis Laxa due to Increased Elastin Turnover

open access: yesCase Reports in Dermatology, 2016
Cutis laxa is a rare disease characterized by abnormal skin wrinkling and laxity, due to decreased elastin synthesis or structural extracellular matrix defects.
Rie Harboe Nygaard   +8 more
doaj   +1 more source

Meretojan taudista uutta tietoa kansallisen potilasrekisterin avulla [PDF]

open access: yes, 2016
Tiedot Meretojan taudin eli suomalaisen perinnöllisen gelsoliiniamyloidoosin taudinkulusta ovat tähän saakka perustuneet suhteellisen pieniin potilassarjoihin.
Atula, Sari   +3 more
core  

Expanded carrier screening: A current perspective [PDF]

open access: yes, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb   +12 more
core   +1 more source

Giant Bladder Diverticulum in A Female Infant Mimicking Intraperitoneal Mass

open access: yesClinical 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

گزارش 1 مورد Cutis Laxa همراه با دررفتگی دو طرفه مفصل ران [PDF]

open access: yes, 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
core  

Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan

open access: yesJIMD 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

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