Results 81 to 90 of about 28,339 (193)

Beyond the Negative: Insights From Postnatal Medical Genetics Follow‐Up After Nondiagnostic Prenatal Exome Sequencing

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate postnatal medical genetic reassessment and reinterpretation of prenatal exome sequencing (pES) in liveborn children with prenatally identified structural anomalies and nondiagnostic prenatal genetic testing. Method We performed a retrospective chart review of 61 liveborn children with fetal structural anomalies who had ...
Sophie Albert, Anne Swenerton, Kirsten M. Niles, Sylvie Langlois, Jessica L. Zambonin   +4 more
wiley   +1 more source

Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP)

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Expert prenatal focused gene‐disease curation is necessary to accurately inform clinical care in the setting of rapidly expanding prenatal genomic sequencing. Methods An international Prenatal Gene Curation Expert Panel assembled and systematically reviewed genes asserted to be associated with prenatal hydrops, stillbirth, or severe ...
Stephanie N. Galloway, Jessica L. Giordano, Carrie Shawber, Natalie Chandler, Lauren Westerfield, Prenatal GCEP Panel members, Ronald J. Wapner, Wendy Chung, Ignatia B. Van den Veyver, Shagun Aggarwal, Caitlin Baptiste, Brenna Boyd, Amanda Buchanan, Alicia Byrne, Imen Chakchouk, David Chitayat, Lyn Chitty, Pinal Dalwadi, Avinash Dharmadhikari, Lilian Downie, Stephanie Dukhovny, Mythily Ganapathi, Kelly Gilmore, Elena Greenfeld, Lylach Haizler‐Cohen, Vaidehi Jobanputra, Gabrielle Litteken, Hannah Perrin, Julie Ratliff, Rebecca Reimers, Erin Riggs, Teresa Sparks, Samantha Stover, Amanda Thomas‐Wilson, Leandra Tolusso, Neeta Vora, Tsegaselassie Workalemahu, Roni Zemet‐Lazar   +37 more
wiley   +1 more source

Unveiling Otolith Mystery: Contemporary Testing Approaches and Their Clinical Significance

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Objective Otolith is a critical component of the peripheral vestibular system responsible for detecting linear acceleration. Dysfunction of the otolith organs can lead to vertigo, balance disturbances, and gaze instability. By elucidating the physiological foundations and evaluating both current and emerging methods for assessing otolith ...
Shun Zhou, E Tian, Hua‐Jing Yang, Jun Wang, Zhao‐Qi Guo, Jing‐Yu Chen, Wan‐Di Xu, Jia‐Qi Guo, Zhang‐Hong Zhou, Shi‐Yu Shi, Xi‐Xi Yu, Xin‐Bo Gao, Ni Zhai, Xin Ma, Qing Zhang, Yi‐Sheng Lu, Su‐Lin Zhang   +16 more
wiley   +1 more source

Acute Corneal Hydrops in Crosslinked Corneas

Purpose: To characterize incident acute corneal hydrops (hydrops) in keratoconus after corneal crosslinking (CXL).
Andrew Cimino, Rimsha Paneru, Joseph B. Ciolino, Eric J. Yang, Levi N. Kanu   +4 more
core   +1 more source

Characterizing Differences in Endolymphatic Hydrops Signatures Among Meniere’s Disease Patients with and Without Migraine

Medical Sciences
Background/Objectives: Migraine is frequently comorbid with Meniere’s disease, which may complicate interpretation of inner ear imaging and clinical diagnosis.
Yoshiyuki Sasano, Fumihiro Mochizuki, Yusuke Ito, Erin Williams, Izumi Koizuka, Michael E. Hoffer, Manabu Komori   +6 more
doaj   +1 more source

Characterization of the Middle Ear Microbiome in Meniere's Disease by 16S rRNA Gene Sequencing Compared to Chronic Suppurative Otitis Media

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Objective To investigate the middle ear microbiome in Meniere's disease (MD) patients. Methods Middle ear smears from 10 MD patients (ME group) and 10 chronic suppurative otitis patients (OE group) were collected during surgery and processed via 16S rRNA gene sequencing.
Yu‐Ting Tao, Lin Wang, Hong‐wei Zheng, Li‐Sheng Yu   +3 more
wiley   +1 more source

Fetal hydrops and anemia as signs of Down syndrome [PDF]

, 2011
Before the 20th week of gestation, the most common cause of nonimmune hydrops fetalis is chromosomal abnormalities. Herein, we report a case of fetal hydrops, anemia, and intrauterine growth retardation that presented at 27 weeks of gestation with a ...
Bayramov, Vugar, Murat Gözüküçük, Acar Koç, Yavuz Emre Şükür, Vugar Bayramov, Şükür, Yavuz Emre, Gözüküçük, Murat, Koç, Acar   +7 more
core   +1 more source

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

Andrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding, Jannie Traberg, Inger Lily Hjuler Dorf, Anne Skakkebæk   +3 more
wiley   +1 more source

Congenital disorder of glycosylation type Ia presenting with hydrops fetalis. [PDF]

, 2006
Contains fulltext : 53596.pdf (Publisher’s version ) (Open Access)There is a growing awareness that inborn errors of metabolism can be a cause of non-immune hydrops fetalis. The association between congenital disorders of glycosylation (
G J G Ruijter, van de Kamp, J. M., Wevers, RA, Ruijter, G J G, Ruijter, G.J., Ruijter, G. J. G., J M van de Kamp, Willems, S M, S J Steggerda, Poorthuis, BJHM, van de Kamp, J M, Willems, SM, Steggerda, S.J., Wevers, R. A., Hollander, NS, Steggerda, S. J., D J Lefeber, Wevers, R.A., Steggerda, S J, G Matthijs, Lefeber, D. J., den Hollander, N S, N S den Hollander, Lefeber, DJ, B J H M Poorthuis, Lefeber, D J, Lefeber, D.J., S M Willems, R A Wevers, den Hollander, N. S., Matthijs, G., Poorthuis, B. J. H. M., van de Kamp, JM, Poorthuis, B J H M, Hollander, N.S., Willems, S.M., Steggerda, SJ, Kamp, J.M. van de, Poorthuis, B.J.H.M., Matthijs, G, Wevers, R A, Willems, S. M., Ruijter, George   +42 more
core   +1 more source

Corneal transplantation: Restoring sight to the blind

Acta Ophthalmologica, EarlyView.
Abstract Corneal blindness is one of the leading causes of vision loss worldwide. Transplantation of the cornea can restore vision and make blind patients see again. Corneal transplant surgery has undergone major evolution in recent decades with the advent of minimally invasive lamellar surgical approaches such as DMEK and DALK.
Claus Cursiefen
wiley   +1 more source