Results 91 to 100 of about 32,206 (257)

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat

Journal of Clinical Laboratory Analysis, EarlyView.
Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Ma. Guadalupe Domínguez‐Quezada, Horacio Rivera, Luis E. Figuera, Patricio Barros‐Núñez, José Luis Castrillo, Carlos Córdova‐Fletes, Thania Alejandra Aguayo‐Orozco   +6 more
wiley   +1 more source

Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities

npj Genomic Medicine
We identified two homozygous truncating variants in GON4L [NM_001282860.2:c.62_63del, p.(Gln21Argfs*12) and c.5517+1G>A] in two unrelated families who presented prenatal-onset growth impairment, microcephaly, characteristic face, situs inversus, and ...
Simo Li, Sanami Takada, Ghada M. H. Abdel-Salam, Mohamed S. Abdel-Hamid, Maha S. Zaki, Mahmoud Y. Issa, Aida M. S. Salem, Eriko Koshimizu, Atsushi Fujita, Ryoko Fukai, Toshio Ohshima, Naomichi Matsumoto, Noriko Miyake   +12 more
doaj   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Genetics in Dental Education: A Cross‐Sectional Study of Instruction and Clinical Integration

Journal of Dental Education, EarlyView.
ABSTRACT Purpose Advances in genomic science and biomedical technology have positioned dentists as key contributors to evidence‐based care, including recognizing oral and craniofacial conditions that may warrant referral or interprofessional evaluation.
Tiffany Saba, Emily Hansen‐Kiss, Walid D. Fakhouri, Tala Hasbini, Richard Halpin, Anita Joy‐Thomas   +5 more
wiley   +1 more source

Identifying High‐Risk Children Safe for Same‐Day Discharge After Tonsillectomy

The Laryngoscope, EarlyView.
ABSTRACT Objective Current guidelines recommend overnight admission for children with severe obstructive sleep apnea (OSA) and obesity undergoing tonsillectomy, although most have uneventful postoperative courses. We aimed to identify low‐risk subgroups within this high‐risk population who may be candidates for same‐day discharge. Methods Retrospective
Amy Ho, Yann‐Fuu Kou, Christopher Liu, Cynthia S. Wang, Felicity Lenes‐Voit, Stephen R. Chorney, Kenneth Lee, Seckin Ulualp, Ron B. Mitchell, Romaine F. Johnson   +9 more
wiley   +1 more source

The Natural History of Residual and Recurrent Disease in Advanced Juvenile Nasopharyngeal Angiofibroma: A Systematic Review

The Laryngoscope, EarlyView.
Residual and recurrent disease in advanced juvenile nasopharyngeal angiofibromas (JNAs) demonstrate spontaneous involution, reduction in size, or long‐term stability following initial treatment in 95% of patients. In this systematic review of 131 patients with advanced JNA, only 2% of patients demonstrated disease progression during surveillance, but ...
Shivani Angelique Kumar, Peter Petocz, Raewyn G. Campbell   +2 more
wiley   +1 more source

Synaptic Dysfunction in the Anterior Cingulate Cortex Underlies Pain‐Anxiety Comorbidity in a Mandibular Asymmetry Mouse Model

Advanced Science
Structural craniofacial abnormalities, particularly mandibular asymmetry (MA), are increasingly recognized as key drivers of orofacial pain and emotional comorbidities, although the underlying neural mechanisms remain unclear.
Zhaoyichun Zhang, Yanran Zhang, Jialin Si, Honghui Mao, Feng He, Jin Ning, Guaiguai Ma, Xiaohua Chen, Haoxiang Xiao, Yuanyuan Zhu, Haifeng Zhang, Yifan Lu, Qian Liu, Meng Nian, Shiquan Sun, Shibin Yu, Shengxi Wu, Ze Fan, Zuolin Jin, Jing Huang   +19 more
doaj   +1 more source

Safety Profile of Nebulized Ciprofloxacin‐Dexamethasone After Pediatric Airway Surgery

The Laryngoscope, EarlyView.
ABSTRACT Objective To evaluate the safety profile and patterns of use of nebulized ciprofloxacin–dexamethasone (CPD) in pediatric patients undergoing airway surgery. Methods A retrospective chart review was performed of patients who underwent airway surgery at a tertiary pediatric center between 2019 and 2023 and received nebulized CPD 0.3%–0.1 ...
Abbey L. Landini, Cyrus W. Abrahamson, Maya Frost, David Spielberg, Inbal Hazkani, Dana M. Thompson, Jonathan B. Ida, Sarah Maurrasse, Taher Valika   +8 more
wiley   +1 more source

Eustachian Tube Opening in Children With and Without Cleft Palate and Association With Otitis Media

The Laryngoscope, EarlyView.
Using transnasal endoscopy in 50 children, structural abnormalities of the torus tubarius—particularly the posterior lip—were significantly more common in children with cleft palate than in those without (52% vs. 20%). Adenoid size, dynamic Eustachian tube opening visibility, and the Eustachian Tube Inflammation Scale correlated with middle ear status ...
Kawin Atipas, Kitirat Ungkanont, Archwin Tanphaichitr, Vannipa Vathanophas, Thanakrit Wannarong   +4 more
wiley   +1 more source

Utility of Preoperative Cardiac Workup for Children With Very Severe Obstructive Sleep Apnea

The Laryngoscope, EarlyView.
In this retrospective study, we aimed to examine the prevalence and utility of obtaining a preoperative cardiac workup in children with very severe obstructive sleep apnea (OSA) prior to adenotonsillectomy. Of 144 patients with very severe OSA, 38 patients (26.4%) underwent a preoperative cardiac workup, and three of those 38 had abnormal findings ...
Danny A. Elias, Amber D. Shaffer, Zachary Bennett, Rachel Whelan   +3 more
wiley   +1 more source