Results 61 to 70 of about 753 (209)

First‐In‐Human Application of Human Umbilical Cord‐Derived Extracellular Vesicles in Tethered Spinal Cord Release Surgery

Journal of Extracellular Vesicles, Volume 14, Issue 6, June 2025.
ABSTRACT Spina bifida is a congenital neural tube defect that has a high risk of secondary neurological deterioration due to tethering of the spinal cord. We present the first application of human umbilical cord‐derived mesenchymal stromal cell‐derived extracellular vesicle (UC‐MSC‐EV) therapy in humans during spina bifida surgery.
Matthias Krause, Janina Gburek‐Augustat, Daniel Gräfe, Roman Metzger, Marco Ginzel, Christoph J. Griessenauer, Lukas Grassner, Daniel Weghuber, Johann Gradl, Daniela Auer, Tanja Schally, Stefan Rund, Carina Kals, Christina Folie, Elisabeth Bayer, Mario Gimona, Eva Rohde   +16 more
wiley   +1 more source

Mosaic KRAS Mutation in Schimmelpenning–Feuerstein–Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features

Pediatric Dermatology, Volume 42, Issue 3, Page 591-595, May/June 2025.
ABSTRACT We report a patient with clinically confirmed Schimmelpenning–Feuerstein–Mims (SFM) syndrome but many overlapping features with oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL). Whole exome sequencing revealed a mosaic KRAS c.436G>A, p.(Ala146Thr) mutation, previously identified in three OES and ECCL patients ...
Hyvönen Hanna, Kettunen Kaisa, Avela Kristiina, Kivirikko Sirpa, Jeskanen Leila, Suominen Sinikka, Salminen Päivi, Hannula‐Jouppi Katariina   +7 more
wiley   +1 more source

Anaesthesia and airway management of occulo auricular vertebral dysplasia: A rare case report

Journal of the Scientific Society, 2012
A 12 year old girl child from the department of Ophthalmology posted for right eye limbal dermoid excision. Opthlamic examination and history revealed bilateral restricted eye movements, limbal dermoids, and decreased vision since birth.
K S Kedareshvara, C S Sanikop, S Shirol, Nidhi Jain   +3 more
doaj   +1 more source

The Australian Corneal Graft Registry 2015 Report [PDF]

, 2015
The Australian Corneal Graft Registry (ACGR) opened in May 1985 and has now been operating for 30 years. Over the years, we have collected information on more than 30,000 corneal grafts.
Coster, Douglas John, Galettis, Rachel A, Jones, Victoria J, Keane, Miriam Claire, Mills, Richard Arthur, Williams, Keryn Anne   +5 more
core  

Clinical evaluation and surgical intervention of limbal dermoid

Indian Journal of Ophthalmology, 1981
Mohan Madan, Mukherjee G, Panda Anita
doaj   +2 more sources

Encephalocraniocutaneous lipomatosis (Haberland syndrome): A case report and review of literature

Indian Journal of Dermatology, 2013
Encephalocraniocutaneous lipomatosis (ECCL) is a rare sporadic neurocutaneous syndrome characterized by presence of central nervous system, ocular and cutaneous anomalies. The exact pathogenesis is still not known.
Kalyan Koti, Vijayalakshmi Bhimireddy, Srinivas Dandamudi, Ramanareddy Gunnamreddy   +3 more
doaj   +1 more source

Encephalocraniocutaneous Lipomatosis Associated with Orbital Cyst: A Variant or New Entity?

Türk Oftalmoloji Dergisi, 2021
Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland or Fishman syndrome, is an extremely rare congenital neurocutaneous disorder that characteristically involves ectomesodermal tissues such as the central nervous system, eyes, and skin ...
Abubakar Garba Farouk, Abubakar Farate, Zainab Yero Musa, Abba Bukar Zarami, Hajja-Falmata Kachallah Monguno   +4 more
doaj   +1 more source

Magnetic resonance imaging and clinical features of Mayer–Rokitansky–Küster–Hauser syndrome: A 10‐year review from a dedicated specialist centre

BJOG: An International Journal of Obstetrics &Gynaecology, Volume 132, Issue 1, Page 64-71, January 2025.
Abstract Objective To correlate the clinical history with imaging findings of women with Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome. Design Retrospective cohort study. Setting A UK IOTA and ESGO‐certified tertiary referral centre for disorders of reproductive development. Population All patients with a diagnosis of MRKH and who had undergone an MRI
Nina Cooper, Maya Al‐Memar, Kristofer Linton‐Reid, Keith Edmonds, Gillian Rose, Nuala Dixon, Cillian McNamara, Christina Fotopoulou, Katherine Van Ree, Nishat Bharwani   +9 more
wiley   +1 more source

ATYPICAL PRESENTATION OF A DIFFUSE LIMBAL DERMOID [PDF]

, 2014
Limbal dermoids are benign congenital tumors that contain choristomatous tissue. They remain localized mostly to the superficial layers of the cornea and sclera.
Ankur, Ankur, Gupta Renu, Gupta Renu, Gupta, Manisha, Vats, Vatsala   +3 more
core   +1 more source

A Rare Nasopharyngeal Hemangioma Presenting as Recurrent Cyanotic Apnea in a Neonate: A Case Report and Literature Review

Case Reports in Medicine, Volume 2025, Issue 1, 2025.
Background: Infantile hemangiomas (IHs) are the most common vascular tumors of infancy, but airway involvement is rare and potentially life‐threatening. While subglottic and laryngeal regions are most frequently affected, nasopharyngeal hemangiomas are exceptionally uncommon, particularly in premature infants presenting with nonspecific symptoms such ...
Pershia Davoodi Karsalari, Samin Mortaheb, Heliya Rafsanjani, Noosha Samieefar, Aslan Ahmadi, Parinaz Alizadeh, Viswanatha Borlingegowda   +6 more
wiley   +1 more source