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A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.
Eur J Med Genet
April 2024
Department of Pediatric Genetics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
Article Synopsis
- TP63-related disorders involve various symptoms like sparse hair, tooth issues, and cleft lip/palate, linked to mutations in the TP63 gene.
- These disorders include overlapping conditions such as AEC syndrome and EEC3 syndrome, which were diagnosed in patients from five unrelated families.
- Genetic analysis of the TP63 gene revealed multiple variants, indicating a strong genetic link to the observed symptoms, and should prompt doctors to consider these disorders when they see signs of ectodermal abnormalities or clefting.
Ankyloblepharon Filiforme Adnatum in a 3-day-old Neonate: A Case Report.
Sisli Etfal Hastan Tip Bul
June 2023
Department of Neonatal Intensive Care, University of Health Sciences Türkiye, Bagcilar Training and Research Hospital, Istanbul, Türkiye.
Ankyloblepharon filiforme adnatum (AFA) is a rare congenital anomaly consisting of partial or complete fusion of the eyelid margins. It is usually isolated and benign, but its presence should alert the neonatologist as it may rarely be associated with other disorders. We present a case of a 3-day-old newborn presenting with isolated AFA at birth.
View Article and Find Full Text PDF7-[F]Fluoro-8-azaisatoic Anhydrides: Versatile Prosthetic Groups for the Preparation of PET Tracers.
J Med Chem
September 2023
Forschungszentrum Jülich GmbH, Institute of Neuroscience and Medicine, Nuclear Chemistry (INM-5), Wilhelm-Johnen-Straße, 52428 Jülich, Germany.
F-Fluorination of sensitive molecules is often challenging, but can be accomplished under suitably mild conditions using radiofluorinated prosthetic groups (PGs). Herein, 1-alkylamino-7-[F]fluoro-8-azaisatoic anhydrides ([F]AFAs) are introduced as versatile F-labeled building blocks that can be used as amine-reactive or "click chemistry" PGs. [F]AFAs were efficiently prepared within 15 min by "on cartridge" radiolabeling of readily accessible trimethylammonium precursors.
View Article and Find Full Text PDF[A newborn patient with bilateral ankyloblepharon filiforme adnatum: a case report].
Zhonghua Yan Ke Za Zhi
March 2023
Department of Ophthalmology, Eye & ENT Hospital of Fudan University, NHC Key Laboratory of Myopia (Fudan University), Laboratory of Myopia, Chinese Academy of Medical Science, Shanghai 200031, China.
A male neonate who was unable to open both eyes with the adhesion of upper and lower palpebral margins since birth was clinically diagnosed as bilateral ankyloblepharon filiforme adnatum. The fused eyelids were divided surgically under general anesthesia. The neonate can open and close eyes normally with right positions of eyelids and flexible movements of eyeballs to follow light after the surgery.
View Article and Find Full Text PDFIsolated Ankyloblepharon Filiforme Adnatum: A Case Report.
J West Afr Coll Surg
October 2022
Department of Ophthalmology, Jos University Teaching Hospital, Jos, Plateau State, Nigeria.
Ankyloblepharon filiforme adnatum (AFA) is a rare congenital anomaly consisting of partial or complete adhesion of the upper and lower eyelids, and it can be an isolated finding, or associated with other multisystemic anomalies. Its presence should alert the neonatologist of the need for a detailed systemic evaluation. We present a twenty day old baby who presented to our facility on the 8th of August 2019, with bilateral adhesions of the upper and lower eyelids, and had them excised with the use of McPherson's forceps and Vannas scissors, with no sedation or anesthesia.
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