Results 61 to 70 of about 16,518 (257)

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Artificial cranial deformation and fossil Australians revisited

Journal of Human Evolution, 1999
Based on cranial characters shared by Homo erectus in Java and Homo sapiens in Australia, Australasia is widely considered the strongest case for a regional origin of modern humans. However, artificial vault deformation has been suggested to be the cause of "archaic" characters such as frontal recession in key fossil Australian crania.
Department of Anthropology, University of Florida, Gainesville, Florida, U.S.A.anton@nervm.nerdc.ufl.eduf1 ( host institution ), Antón, Susan C., Weinstein, Karen J.   +2 more
openaire   +3 more sources

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

How Lumbar Disc Geometrics Affect the Risk for Rod Fracture in Patients Undergoing Adult Spinal Deformity Surgery: An Initial Report

Global Spine Journal, 2016
Introduction Rod fracture (RF) may have significant consequences for patients, including pain, loss of deformity correction, and the need for revision surgery.
David Briski, Joseph Zavatsky, Brandon Cook   +2 more
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Regression models to predict cranial vault thickness for subadults: A computed tomography study

Asian Journal of Surgery
Background and Objective: Correlations between cranial vault thickness (CVT) and age, sex, and ethnicity have been extensively researched. Still, the potential to utilize these biological parameters to estimate CVT in a clinical setting has yet to be ...
Goh Xu You, Dominic Eng Lu Jue, Melissa Humphries, Sharifah Nabilah Syed Mohd Hamdan, Meghna Gohain, Mohammed Rafiq Abdul Kadir, Rabiah Al-Adawiyah Rahmat, Norliza Ibrahim   +7 more
doaj   +1 more source

Holographic model of craniosynostosis for HoloLens [PDF]

Acta Cirúrgica Brasileira
Purpose: To develop a holographic skull model of a deformity resulting from craniosynostosis for the HoloLens. Methods: The methodology for product creation and prototyping was the design thinking structured with the double diamond.
Mauricio Mitsuru Yoshida, André Luiz Pires de Freitas, José da Conceição Carvalho Júnior, Julio Sergio de Souza, Vinicius Santos Baptista, Lydia Masako Ferreira   +5 more
doaj   +1 more source

North American Delphi Consensus Study on Sinonasal Malignancy Survivorship Care

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Survival for patients with sinonasal cancers has improved over the past decades, but there are no dedicated survivorship guidelines for this cohort. Objective To understand experts’ priorities and perspectives on key survivorship tenets (surveillance, second tumor screening, toxicity, and symptom management).
Matheus Sewastjanow‐Silva, Samagra Jain, Rita Snyder, Erin L. McKean, Ralph Abi Hachem, Nithin D. Adappa, J. Ken Byrd, Ricardo L. Carrau, Marc A. Cohen, Ivan H. El‐Sayed, Mathew N. Geltzeiler, Ehab Y. Hanna, Edward C. Kuan, Nyall R. London Jr., Zoukaa B. Sargi, Carl H. Snyderman, Marilene B. Wang, Ian J. Witterick, Shirley Y. Su   +18 more
wiley   +1 more source

Piezoelectric Nanocomposite Hydrogel for Wireless Neural Stimulation and Tissue Augmentation

Advanced NanoBiomed Research, EarlyView.
A cell/tissue supporting piezoelectric hydrogel system (PZ‐gel) that incorporates ferroelectric, pyroelectric, and piezoelectric ceramic material barium titanate into an alginate/carboxymethyl chitosan hydrogel. The PZ‐gel can be sonoactivated for wireless neural cell and tissue stimulation, with the potential to be used as a stimulatory cell substrate
Mohammad Mohammadi, Eva Tomaskovic‐Crook, Peter C. Innis, Jeremy M. Crook   +3 more
wiley   +1 more source