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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460991 | PMC |
| http://dx.doi.org/10.1111/imj.14980 | DOI Listing |
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Trichothiodystrophy Identified in a Child with an Odontogenic Infection.
J Dent Child (Chic)
September 2024
Department of Oral and Maxillofacial Surgery, Tufts University School of Dental Medicine, Boston, Mass., USA.
Article Synopsis
- Trichothiodystrophy (TTD) is a rare genetic disorder that presents with brittle hair, photosensitivity, scaly skin, and stunted growth, leading to a high mortality rate in children mainly due to infections.
- A case report highlights a five-year-old boy with these symptoms who was diagnosed with TTD after genetic testing during treatment for a dental infection.
- The report emphasizes the need for comprehensive evaluation of pediatric patients to improve diagnosis and care for genetic disorders like TTD, involving a collaborative approach among healthcare providers.
Anterior Cutaneous Nerve Entrapment Syndrome Presenting as Chronic Abdominal Pain.
Cureus
December 2024
Anesthesiology, Baylor Scott and White Allsaints, Fort Worth, USA.
Abdominal pain is one of the most common chief complaints that patients present with to healthcare facilities across specialties. Unfortunately for clinicians, the differential diagnosis for abdominal pain is vast. Abdominal pain can be broken down into two broad categories: visceral and non-visceral causes.
View Article and Find Full Text PDFWith big data comes big responsibility: Strategies for utilizing aggregated, standardized, de-identified electronic health record data for research.
Clin Transl Sci
January 2025
The Center for Clinical Informatics Research and Education, The MetroHealth System, Cleveland, Ohio, USA.
Electronic health records (EHRs), though they are maintained and utilized for clinical and billing purposes, may provide a wealth of information for research. Currently, sources are available that offer insight into the health histories of well over a quarter of a billion people. Their use, however, is fraught with hazards, including introduction or reinforcement of biases, clarity of disease definitions, protection of patient privacy, definitions of covariates or confounders, accuracy of medication usage compared with prescriptions, the need to introduce other data sources such as vaccination or death records and the ensuing potential for inaccuracy, duplicative records, and understanding and interpreting the outcomes of data queries.
View Article and Find Full Text PDFHow Can One Metal Power Nucleic Acid Phosphodiester Bond Cleavage by a Nuclease? Multiscale Computational Studies Highlight a Diverse Mechanistic Landscape.
J Phys Chem B
December 2024
Department of Chemistry and Biochemistry, University of Lethbridge, 4401 University Drive West, Lethbridge, Alberta, Canada T1K 3M4.
Despite the remarkable resistance of the nucleic acid phosphodiester backbone to degradation affording genetic stability, the P-O bond must be broken during DNA repair and RNA metabolism, among many other critical cellular processes. Nucleases are powerful enzymes that can enhance the uncatalyzed rate of phosphodiester bond cleavage by up to ∼10-fold. Despite the most well accepted hydrolysis mechanism involving two metals (M to activate a water nucleophile and M to stabilize the leaving group), experimental evidence suggests that some nucleases can use a single metal to facilitate the chemical step, a controversial concept in the literature.
View Article and Find Full Text PDFWhich is more priority, substrate type or food quality? A case study on a tropical coral reef sea cucumber Stichopus chloronotus revealed by prokaryotic biomarker.
BMC Microbiol
December 2024
School of Marine Biology and Fisheries, Hainan University, Haikou, 570228, China.
Background: Different species of sea cucumbers in various regions have diverse preferred habitats and feeding habits. However, detailed research on the correlation between food selection and habitat preference of sea cucumbers, as well as their adaptive adjustments to specific habitat types, is still lacking.
Methods: A field study was carried out to explore the relationship between food selection and habitat preference, as well as the adaptation process, of the tropical sea cucumber Stichopus chloronotus, which has specific food preferences.
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