Results 81 to 90 of about 22,207 (205)

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1719-1724, July 2026.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, Volume 136, Issue 7, Page 3240-3245, July 2026.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Magnetic resonance imaging findings in Ménière’s disease: the impact of radiologist experience on hydrops imaging

Diagnostic and Interventional Radiology
PURPOSE: This study investigates the competence of a newly certified radiologist in reporting hydrops imaging and examines the role of magnetic resonance imaging (MRI) findings in diagnosing definite and probable Ménière’s disease (MD).
Çağatay Cihan, Uğur Toprak, Emre Emekli, Armağan İncesulu, Hamit İpek   +4 more
doaj   +1 more source

Pathophysiology of hydrops fetalis

Seminars in Perinatology, 1995
Hydrops fetalis occurs when the rate of interstitial fluid production by capillary ultrafiltration exceeds the rate of interstitial fluid return to the circulation via lymphatic vessels. Developmental differences in the microcirculation and lymphatic system of the fetus, as compared with mature subjects, renders the fetus susceptible to interstitial ...
openaire   +2 more sources

hydrops

Citation: 'hydrops' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10818 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
openaire   +2 more sources

Trametinib Therapy for Hypertrophic Cardiomyopathy and Pulmonary Hypertension in a Child With RAF1‐Related Noonan Syndrome (p.Ser257Leu): A Case Report

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT This case describes a female infant with RAF1‐related Noonan syndrome who developed severe hypertrophic obstructive cardiomyopathy, pulmonary hypertension, and cardiorespiratory failure that responded to trametinib treatment but ultimately progressed to death following dose tapering and discontinuation of therapy. To the best of our knowledge,
C. Noah Nilsson, Othman A. Aljohani, Michael A. Smith, Rachelle Durand, Inger Norlyk Sheyanth, Hythem Nawaytou, Elliot Stieglitz, Russel Valle, Sanjeev A. Datar   +8 more
wiley   +1 more source

EHA Recommendations for preconceptual and antenatal screening and prenatal diagnosis for hemoglobinopathies

HemaSphere, Volume 10, Issue 6, June 2026.
Abstract Thalassemia and sickle cell disease (SCD) are among the most common monogenic disorders worldwide. They cause chronic hemolytic anemia, the consequences and prognosis of which vary considerably depending on the genetic characteristics of patients and the healthcare system in their country of residence.
Mariane de Montalembert, Maria D. Cappellini, Achille Iolascon, Lucia de Franceschi, Eda Ömur, Michele Abi Saad, Immacolata Andolfo, Celeste Bento, Maria Berghs, Doris Bonnet, Andreas Glenthoj, Beatrice Gulbis, Tuphan K. Dolai, Jorge Lima, Irene Motta, Roberta Russo, Ali Taher, Leon Tshilolo, Antonio Almeida, David Rees   +19 more
wiley   +1 more source

The relationship between endolymphatic hydrops features and hearing loss in Bilateral Meniere's disease

Head & Face Medicine
Background This study aimed to investigate the relationship between the features of endolymphatic hydrops and hearing loss in patients with Bilateral Meniere's Disease.
Xu Liu, Dan Wang, Yue-Lin Hsieh, Suming Shi, Wuqing Wang   +4 more
doaj   +1 more source

Adjunctive Hyperbaric Oxygen Therapy or Intratympanic Steroids in Sudden Sensorineural Hearing Loss?

The Laryngoscope, Volume 136, Issue 6, Page 2708-2718, June 2026.
Sudden sensorineural hearing loss is traditionally treated with steroids, either orally and/or via intratympanic injections, and hyperbaric oxygen treatment (HBOT) has resurged in popularity as an adjunctive therapy. The study has not found any additional treatment benefit with adjunctive concurrent HBOT; however, HBOT might be of value to patients ...
Jennifer L. Spiegel, Michael J. De Biasio, Gianluca Sampieri, Omer J. Ungar, Munir D. Bajin, Vincent Y. W. Lin, Joseph M. Chen, Chris Idestrup, Jordan Tarshis, Trung N. Le   +9 more
wiley   +1 more source

Keratoconus as a Rare Manifestation of Hypohidrotic Ectodermal Dysplasia

Delhi Journal of Ophthalmology
Hypohidrotic ectodermal dysplasia (HED) is a rare X-linked disorder primarily affecting ectoderm-derived tissues. While ocular manifestations such as dry eye, blepharitis, and corneal changes are well-documented, keratoconus has rarely been reported in ...
Tanvi Chandel, Aman Gupta, Gaurav Sharma, K. S. Mehta, Ashwani Negi, Sejal Katoch, Rakesh Kumar, Akanksha Sharma   +7 more
doaj   +1 more source