Results 261 to 270 of about 601,034 (337)

The Head Circumference Height Index (HCH‐I) to Quantify Relative Macrocephaly and Aid Identification of Hypochondroplasia in Children

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypochondroplasia (HCH) is a rare skeletal dysplasia caused by pathogenic variants in the FGFR3 gene. We hypothesized that the relative disproportion between head circumference and height in HCH might be diagnostically informative and generated a simple index of head‐stature disproportion to help pediatricians diagnose HCH.
Moira S. Cheung, Ruggero Lanzafame, Karen J. Low, Tim J. Cole   +3 more
wiley   +1 more source

Sexual Shape Variation and Allometric Effects in Guinea Pig (<i>Cavia porcellus</i>) Skulls. [PDF]

Animals (Basel)
Yalin EE, Szara T, Günay E, Pešić A, Manuta N, Güzel BC, Temir MT, Gündemir O.   +7 more
europepmc   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

Atypical acute subdural hematoma caused by skull base fracture lacerating the middle meningeal artery: illustrative case. [PDF]

J Neurosurg Case Lessons
Choucha A, Bulteau H, Thijs D, Simone M, Baroncini M, Santurro A, Iaconetta G.   +6 more
europepmc   +1 more source

Sinonasal Sarcomas Management: An International Consensus Statement

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Introduction Sinonasal sarcomas are exceedingly rare entities, constituting less than 7% of head and neck sarcomas. Their complex histology needs specialized treatment, which is often based on multimodal approaches including surgery, radiation therapy, and/or chemotherapy.
Alessandro Vinciguerra, Francesca Caspani, Marco Valentini, Anna Maria Camarda, Salvatore Provenzano, Eric W. Wang, Cem Meço, Marco Ferrari, Pavol Surda, Semi Harrabi, Fernando Augusto Batista Campos, Javier Martin Broto, B. Ashleigh Guadagnolo, Pierina Navarria, Ali Hosni, Nadia Hindi, Antoine Italiano, Daniel M. Trifiletti, Bernd Kasper, Benjamin Verillaud, Alberto Schreiber, Paolo Castelnuovo, Piero Nicolai, Iacopo Dallan, Matias Chacon, Shirley Y. Su, Juliette Thariat, Claudia Valverde, Matt Lechner, Jean Yves Blay, Maria Rosaria Fiore, Jean Anderson Eloy, Mehdi Brahmi, James N. Palmer, Victor Castro Oliden, Daniela Greto, Iwona Lugowska, Angelo Paolo Dei Tos, Thibaut van Zele, Alkis J. Psaltis, Paolo Giovanni Casali, Armelle Dufresne, Claudia Sangalli, Christos Georgalas, Ester Orlandi, Peter‐John Wormald, Philippe Herman, Ricardo Carrau, Ehab Y. Hanna, Lisa Licitra, Mario Turri‐Zanoni, Paolo Battaglia   +51 more
wiley   +1 more source

Anatomic Diagram as a Novel Assessment Strategy for Subclinical Local Residual Disease in Sinonasal Squamous Cell Carcinoma and Intestinal‐type Adenocarcinoma

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective In the last two decades, transnasal endoscopic surgery (TES) has become pivotal in the management of sinonasal tumors. This approach involves a multiblock tumor resection, adding complexity to the interpretation of surgical margins after pathological examination.
Piergiorgio Gaudioso, Leonardo Calvanese, Stefano Taboni, Giacomo Contro, Diego Cazzador, Tommaso Saccardo, Gloria Schiavo, Vittorio Rampinelli, Alberto Schreiber, Gabriele Testa, Cesare Piazza, Enzo Emanuelli, Davide Mattavelli, Piero Nicolai, Marco Ferrari   +14 more
wiley   +1 more source

Simple rigid skull base reconstruction with resorbable unsintered hydroxyapatite/poly-l-lactide plate in endoscopic endonasal skull base tumor surgery: illustrative case. [PDF]

J Neurosurg Case Lessons
Manthawornsiri K, Morisako H, Nagahama A, Ikegami M, Hazunga R, Liew BS, Goto T.   +6 more
europepmc   +1 more source

Mechanisms of Mitochondrial Toxicity and Cytotoxicity Caused by Pseudomonas aeruginosa Pyocyanin in Human Nasal Epithelial Cells

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Pseudomonas aeruginosa is an opportunistic pathogen in cystic fibrosis‐related chronic rhinosinusitis (CF‐CRS) that produces phenazine metabolites pyocyanin and 1‐hydroxyphenazine (1‐HP), which may have detrimental effects on mitochondria, reactive oxygen species (ROS), Ca2+ signaling, and apoptosis.
Joel C. Thompson, April Park, Yobouet Ines Kouakou, Zoey A. Miller, Nabil F. Darwich, Nithin D. Adappa, James N. Palmer, Ryan M. Carey, Robert J. Lee   +8 more
wiley   +1 more source

Vasospasm following resection of olfactory groove meningiomas via orbitozygomatic craniotomy: illustrative cases. [PDF]

J Neurosurg Case Lessons
Mousa AH, Hafiz B, Aref M.
europepmc   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source