Results 221 to 230 of about 926,540 (312)

Reframing Trisomy 13 and 18 Care: Moving Beyond the Myth of “Incompatibility With Life” in a South African and Low‐and Middle‐Income Country Context

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13 (T13) and trisomy 18 (T18) have historically been described as “lethal” or “incompatible with life,” contributing to diagnosis‐based limitations of care. Contemporary evidence demonstrates greater heterogeneity in survival and outcomes than previously recognized, including among selected children receiving intensive care or cardiac ...
H. L. Malherbe, M. Araujo, L. Balimba, J. A. Joshi, P. Makhetha, M. Meiring, M. T. Mpe, D. Reddy, B. Shingwenyana, J. C. Carey   +9 more
wiley   +1 more source

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy, Pascal Joset, H. E. Veenstra‐Knol, Nicole Corsten‐Janssen, Tuula Rinne, Irene Valenzuela, Marta Codina‐Solà, Carlota Rodó, Marjolaine Willems, Constance Wells, Renaud Touraine, Maayke de Koning, Gijs Santen, Iris Hollink, André Travessa, Alessandro Mauro Spinelli, Paolo Peruzzo, Moneef Shoukier, Roland Axt‐Fliedner, Thomas Menter, Gwendolin Manegold‐Brauer, Isabel Filges   +21 more
wiley   +1 more source

Non-traumatic acute mediastinitis secondary to acute phlegmonous esophagitis: a rare case report. [PDF]

J Surg Case Rep
Biza MH, Degife EK, Tadesse SZ, Mengistie CT, Atsbha EM, Mengistie BT.   +5 more
europepmc   +1 more source

Silk Fibroin for Cardiovascular Medical Devices: Review of Material Properties, Applications, and Clinical Potential

Advanced NanoBiomed Research, EarlyView.
Silk fibroin is an attractive natural biomaterial that can be engineered into diverse cardiovascular constructs, including vascular grafts, cardiac patches, heart valves, and stent coatings. Its tunable biological and mechanical properties have driven substantial preclinical progress; however, widespread clinical translation in cardiovascular ...
Mahsa Haghighattalab, Matt Govendir, Kristina Andelovic, Zachary Och, Fatemeh Karimi, Munira Xaymardan, Tomasz Jungst, Jelena Rnjak‐Kovacina, Nona Farbehi   +8 more
wiley   +1 more source

Long-term neurological stability after decompression with duraplasty without resection of a non-dysraphic thoracic spinal lipoma: a 30-year follow-up case report. [PDF]

J Surg Case Rep
Ueno T, Murata S, Iwasaki H, Nomura K, Yoshida M, Yamada H.   +5 more
europepmc   +1 more source

Revisiting paravertebral muscles in European rabbits (Oryctolagus cuniculus) and European brown hares (Lepus europaeus) (Leporidae; Lagomorpha)

The Anatomical Record, EarlyView.
Abstract Domesticated European rabbits (Oryctolagus cuniculus) have long been chosen as laboratory model organisms. Despite this, there has been no definitive study of the vertebral musculature of wild rabbits. Relevant descriptions of well‐studied veterinary model mammals (such as dogs) are generally applicable, but not appropriate for a species ...
Nuttakorn Taewcharoen, Emma Sherratt, Philip Stott, Rachel Norris   +3 more
wiley   +1 more source

Evaluation of surgical approaches to segmentectomy in lung cancer: A survey study. [PDF]

Turk Gogus Kalp Damar Cerrahisi Derg
Cansever L, Erk M, Canavar A, Bozan AU, Akçıl AM, Akgül AG.   +5 more
europepmc   +1 more source

Multi‐method analysis for the three‐dimensional reconstruction of muscle fascicles from DiceCT datasets

The Anatomical Record, EarlyView.
Abstract Muscle architecture is a major determinant of muscle performance and, in mammalian lineages, has been correlated with both feeding ecology and locomotor behaviors. Over the past decade, contrast‐enhanced micro‐CT (DiceCT) has emerged as an alternative to traditional dissection‐based measurement.
Aleksandra Ratkiewicz, Michael C. Granatosky, Cassidy E. Davis, Julia Molnar, Adam Hartstone‐Rose, Edwin Dickinson   +5 more
wiley   +1 more source