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Am J Case Rep
January 2025
Department of Neonatology, The Fifth Affiliated Hospital of Zunyi Medical University, Zhuhai, Guangdong, China.
BACKGROUND Cleidocranial dysplasia (CCD) is a rare (1: 1 000 000) autosomal dominant congenital skeletal dysplasia characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. Only a minority of the cases are diagnosed early after birth. We present another case of proven CCD presenting with typical neonatal phenotype to promote awareness of this rare disorder.
View Article and Find Full Text PDFJ Med Case Rep
January 2025
Department of Dermatology and Venereology, Faculty of Medicine, University of Aleppo, Aleppo, Syria.
Background: Basal cell nevus syndrome, also known as Gorlin or Gorlin-Goltz syndrome, is a hereditary condition caused by mutation in the PATCHED gene. The syndrome presents with a wide range of clinical manifestations, including basal cell carcinomas, jaw cysts, and skeletal anomalies. Diagnosis is based on specific criteria, and treatment typically includes surgical removal of basal cell carcinomas.
View Article and Find Full Text PDFBMC Pulm Med
January 2025
Universal Scientific Education and Research Network (USERN), Tehran, Iran.
Objective: Lung cancer (LC), the primary cause for cancer-related death globally is a diverse illness with various characteristics. Saliva is a readily available biofluid and a rich source of miRNA. It can be collected non-invasively as well as transported and stored easily.
View Article and Find Full Text PDFSci Rep
January 2025
Information Institute of the Ministry of Emergency Management of PR China, Beijing, 100029, People's Republic of China.
Slopes influenced by multiple faults are prone to large-scale landslides triggered by multi-regional failures. Understanding the failure process and sequence is essential for the sustainable development of mining operations. This paper presents a method combining InSAR monitoring and numerical simulation to analyze the failure processes of slopes affected by multiple faults.
View Article and Find Full Text PDFNat Commun
January 2025
Department of Physics and Astronomy, Michigan State University, East Lansing, MI, USA.
DEAD-box RNA-dependent ATPases are ubiquitous in all domains of life where they bind and remodel RNA and RNA-protein complexes. DEAD-box ATPases with helicase activity unwind RNA duplexes by local opening of helical regions without directional movement through the duplexes and some of these enzymes, including Ded1p from Saccharomyces cerevisiae, oligomerize to effectively unwind RNA duplexes. Whether and how DEAD-box helicases coordinate oligomerization and unwinding is not known and it is unclear how many base pairs are actively opened.
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