Results 71 to 80 of about 9,353 (210)

Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Mucopolysaccharidosis II is a rare, X‐linked disease, with very few reports of affected female patients. Natural history data describe a predominantly male population, and appropriate disease characterization in female patients is lacking. This analysis explores the somatic disease burden and clinical progression of female patients with MPS II
Barbara K. Burton, Hernan Amartino, Roberto Giugliani, Christoph Kampmann, Julian Raiman, Maurizio Scarpa, Anna Tylki‐Szymańska, Jennifer Audi, Jaco Botha, Siddarth Jain, Joseph Muenzer   +10 more
wiley   +1 more source

Combining Detailed Fetal Anatomy Scanning in the NT Window Versus Early Second Trimester Scanning at 14–16 Weeks

Journal of Ultrasound in Medicine, Volume 45, Issue 1, Page 105-113, January 2026.
Objectives First‐trimester ultrasound has evolved to incorporate a detailed fetal anatomy scan (FAS) with nuchal translucency (NT) screening. Many institutions use a 2‐visit protocol: NT followed by detailed FAS at 14–16 weeks. We aimed to evaluate whether integrating detailed FAS into the NT window (12 + 5 to 13 + 6 weeks) is non‐inferior in ...
Tomer Shwartz, Sarah M. Cohen, Michal Lipschuetz, Hila Hochler, Yaron Zalel, Dan V. Valsky, Simcha Yagel   +6 more
wiley   +1 more source

Amniotic fluid volume: Rapid MR-based assessment at 28-32 weeks gestation. [PDF]

, 2016
OBJECTIVES: This work evaluates rapid magnetic resonance projection hydrography (PH) based amniotic fluid volume (AFV) estimates against established routine ultrasound single deepest vertical pocket (SDVP) and amniotic fluid index (AFI) measurements, in ...
Graves, MJ, Hawkes, R, Hilliard, NJ, Hunter, S, Lees, C, Lomas, DJ, Patterson, AJ, Priest, AN, Set, PA   +8 more
core   +4 more sources

A Newborn with a Large Umbilical Cord Pseudocyst with Hemangioma: A Case Report and Review of the Literature

Gynecology Obstetrics & Reproductive Medicine, 2012
Umbilical cord pseudocysts in a newborn are very rare. They may be associated with patent urachus and hemangioma. Generally, they are localized in a particular section of the cord.
İbrahim Akkoyun, Ethem Ömeroğlu, Musa Göncü, Hicran Kanat, Emel Ebru Özçimen   +4 more
doaj  

Long-term complications of continent catheterizable channels: a problem for transitional urologists. [PDF]

, 2018
A majority of the transitional urology patient population have neurogenic bladder and many of these patients have undergone creation of continent catheterizable channels (CCCs) to facilitate bladder emptying.
Baradaran, Nima, Elliott, Sean P, Hampson, Lindsay A   +2 more
core  

The effect of mesenchymal stem cells combined with platelet-rich plasma on skin wound healing [PDF]

, 2018
INTRODUCTION: Mesenchymal stem cells (MSCs) are multipotent stem cells that have the potential of proliferation, high self-renewal, and the potential of multilineage differentiation.
Abd-Allah, Aggarwal, Akingboye, Argôlo Neto, Arno, Badiavas, Boulton, Burnouf, Burnouf, Bus, Caliari-Oliveira, Cervelli, Cervelli, Chen, Church, Clark, Clover, D'Esposito, Demidova-Rice, El Sadik, Elder, Eming, Eslaminejad, Falanga, Fukaya, Gnecchi, Goedecke, Griffin, Gu, Guo, Heffner, Hosni, Iacono, Intini, Jackson, Jia, Jun, Kado, Kamolz, Kato, Kazakos, Kim, Kocaoemer, Kofidis, Krampera, Lacci, Lau, Lee, Lee, Li, Li, Lian, Liu, Lubkowska, Maharlooei, Martinello, Mendez, Middleton, Murphy, Nakagawa, Newman, Nie, Nikolidakis, Nomura, Oprea, Pardue, Park, Qi, Rasulov, Reger, Roubelakis, Saheli, Schwartz-Arad, Singer, Smith, Spotnitz, Stessuk, Stoff, Tayer, Tong, Tsay, Walter, Wang, Wang, Wang, Wei, Wu, Wu, Xue, Yang, Yang, Yang, Yao, Yew, Yun, Zaminy, Zhang, Zhang, Zhang, Zhang, Zhao   +100 more
core   +1 more source

Exploration of the Pathogenic Mechanism of the Factor XIII A Subunit in a Patient With Congenital Factor XIII Deficiency

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
This study identifies a novel Ser414Leu variant in the F13A1 gene associated with congenital FXIII deficiency, demonstrating its potential to destabilize the protein structure. ABSTRACT Background Congenital factor XIII (FXIII) deficiency is an extremely rare autosomal recessive blood clotting disorder with an incidence of approximately one in two ...
Min Wang, Nan Wei, Tianping Chen, Aoshuang Jiang, Yinghui Zhao, Chenglin Zhu, Lijuan Zhu, Lijun Qu, Hongjun Liu   +8 more
wiley   +1 more source

Hernia of Umbilical Cord: Report of Three Unusual Cases

Journal of Neonatal Surgery, 2015
Congenital hernia of umbilical cord is a less frequent entity in newborns and occasionally associated with other maladies. Herein, we report three cases of hernia of umbilical cord. First case was associated with in-utero evisceration of entire small bowel through the presumably ruptured hernia of umbilical cord and other two cases had associated ...
Bilal, Mirza, Afzal, Mirza, Imran, Hashim, Muhammad, Saleem   +3 more
openaire   +3 more sources

Can Prenatal Ultrasonographic Markers Predict Enteral Feeding Tolerance in Neonates With Fetal Omphalocele?

Prenatal Diagnosis, Volume 46, Issue 1, Page 21-29, January 2026.
ABSTRACT Objective This study aimed to identify prenatal ultrasonographic predictors of enteral feeding tolerance in neonates with omphaloceles. Method This retrospective cohort study included all live‐born neonates prenatally diagnosed with omphalocele at Emma Children's Hospital/Amsterdam UMC approximately 2004–2024.
Maaike Hogerwerf, Hanna Heinrich, Merit M. Tabbers, Ramon R. Gorter, Bart G. P. Koot, Jos W. R. Twisk, Eva Pajkrt, Joep P. M. Derikx   +7 more
wiley   +1 more source

Airway tissue engineering for congenital laryngotracheal disease [PDF]

, 2016
Regenerative medicine offers hope of a sustainable solution for severe airway disease by the creation of functional, immunocompatible organ replacements. When considering fetuses and newborns, there is a specific spectrum of airway pathologies that could
Butler, CR, Coppi, PD, Deprest, JA, Hewitt, R, Hynds, RE, Janes, SM, Lesage, F, Maughan, E   +7 more
core   +1 more source