Results 151 to 160 of about 39,956 (278)

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

Delayed diagnosis of mucopolysaccharidosis type I in a patient with spinopelvic instability, short stature, and skeletal dysplasia. [PDF]

JBMR Plus
Windels O, Lindschau M, Boschann F, Oheim R, Muschol N.   +4 more
europepmc   +1 more source

Musculo-skeletal modelling and parameterisation in vivo [PDF]

This thesis describes the development of an anatomically meaningful musculo-skeletal model of the human arm, incorporating two modified Hill muscle models representing the elbow flexor and extensor muscles.
Yu, Tung Fai
core  

Acute symptoms of depression and traumatic stress in men and women who terminate pregnancy after the detection of fetal anomaly: A prospective observational study

BJOG: An International Journal of Obstetrics &Gynaecology, Volume 133, Issue 8, Page 1539-1546, July 2026.
Abstract Objective To assess acute and long‐term stress in men and women after the detection of fetal anomalies leading to pregnancy termination. Design Prospective observational study. Setting Tertiary referral centre for fetal medicine. Population From the initial sample of 180 pregnant women with a fetal anomaly detected by ultrasound examination, a
Mona Bekkhus, Aurora Oftedal, Guttorm Haugen, Berit Mortensen, Anne Kaasen   +4 more
wiley   +1 more source

FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype. [PDF]

Clin Genet
Arduç A, Zuurbier LC, van Maarle MC, Lauffer P, Verbeke JIML, Bax CJ, van Tuyl M, Hochstenbach R, Pajkrt E.   +8 more
europepmc   +1 more source

Engineering Extracellular Vesicles for Anti‐Aging Therapy: Mechanisms, Applications, and Perspectives

Aging Cell, Volume 25, Issue 7, July 2026.
This review systematically elucidates the multifactorial anti‐aging mechanisms of extracellular vesicles (EVs). By bridging fundamental biology with advanced bioengineering, scalable manufacturing, and clinical translation, it establishes a comprehensive framework for developing next‐generation EVs‐based precision nanotherapeutics to combat systemic ...
Xian Huang, Qiujie Li, Guofang Tao, Xulin Gan, Jiangjie Lu, Sergei Krasny, Liyun Shi   +6 more
wiley   +1 more source

Novel Compound Heterozygous Variants in the COG5 Gene Causing Fetal Hydrops and Skeletal Dysplasia. [PDF]

Mol Genet Genomic Med
Yang Q, He W, Zhang Q, Yi S, Zhou X, Wang L, Yi S, Qin Z, Luo J.   +8 more
europepmc   +1 more source

Clinical Challenges in Transition to Adult Care for Young People With Endocrinopathies

Clinical Endocrinology, Volume 105, Issue 1, Page 14-21, July 2026.
ABSTRACT The complexity of transition of pediatric patients to adult care is well recognized, with a multidisciplinary approach widely agreed to be essential. Despite extensive existing literature in this area, practical guidance as to the management of specific medical aspects and how to address these with patients and families is lacking, with little
Margaret Zacharin, Quynh‐Nhu Nguyen
wiley   +1 more source

Small molecule inhibition rescues the skeletal dysplasia phenotype of Trpv4 mutant mice. [PDF]

JCI Insight
Nevarez L, Ismaili TK, Zieba J, Martin J, Wachtell D, Diaz D, Ramirez JA, Aceves V, Ito J, Gray RS, Goldstein D, Sahdeo S, Krakow D, Cohn DH.   +13 more
europepmc   +1 more source

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, Volume 110, Issue 1, Page 125-130, July 2026.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source