Results 91 to 100 of about 55,583 (346)

Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo‐epi‐metaphyseal dysplasia

open access: yesClinical Genetics, Volume 103, Issue 1, Page 45-52, January 2023., 2023
We describe the first patient with biallelic loss‐of‐function variants in the SLC13A1 gene, encoding a renal and intestinal sulfate transporter. The consequential loss of renal sulfate reabsorption leads to hypersulfaturia and hyposulfatemia which is associated with a mild Spondylo‐Epi‐Metaphyseal skeletal Dysplasia. Abstract Sulfate is the fourth most
Jiddeke M. van de Kamp   +13 more
wiley   +1 more source

Fracture of base of skull [PDF]

open access: yesTransactions of the Royal Academy of Medicine in Ireland, 1894
n ...
openaire   +3 more sources

Exosome‐shuttled mitochondrial transcription factor A mRNA promotes the osteogenesis of dental pulp stem cells through mitochondrial oxidative phosphorylation activation

open access: yesCell Proliferation, Volume 55, Issue 12, December 2022., 2022
Exosomes increase mitochondrial transcription factor A (TFAM) expression in DPSCs by transferring TFAM mRNA. Moreover, highly expressed TFAM in DPSCs enhances GDH expression and OXPHOS activity. Meanwhile, glutamate metabolism provides amounts of NADH to OXPHOS.
Jia Guo   +9 more
wiley   +1 more source

A Baseline Approach for AutoImplant: the MICCAI 2020 Cranial Implant Design Challenge [PDF]

open access: yesarXiv, 2020
In this study, we present a baseline approach for AutoImplant (https://autoimplant.grand-challenge.org/) - the cranial implant design challenge, which, as suggested by the organizers, can be formulated as a volumetric shape learning task. In this task, the defective skull, the complete skull and the cranial implant are represented as binary voxel grids.
arxiv  

A rare case of depressed skull fractures at the anterior cranial fossa associated with communicating hydrocephalus resulting a progressive vision loss

open access: yesInterdisciplinary Neurosurgery, 2019
Although an open depressed skull fractures at the anterior cranial fossa is relatively common, comorbidity with a progressive vision loss at initial presentation, with acute communicating hydrocephalus is rare. Here we report a rare case of a progressive
Ahmad Faried, MD., PhD   +3 more
doaj  

Management of head injury in children less than 2 years of age : high time for a guideline [PDF]

open access: yes, 2007
The assessment of children aged less than two years who present with head injury poses a challenge to the examining doctor due to the inability of the patient to give a history.
Borg, Malcolm, Cachia Pickard, Agnes
core  

A method for automatic forensic facial reconstruction based on dense statistics of soft tissue thickness [PDF]

open access: yes, 2018
In this paper, we present a method for automated estimation of a human face given a skull remain. The proposed method is based on three statistical models. A volumetric (tetrahedral) skull model encoding the variations of different skulls, a surface head model encoding the head variations, and a dense statistic of facial soft tissue thickness (FSTT ...
arxiv   +1 more source

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