Nanoindentation was used to compare the intrinsic mechanical properties of bone tissue (iliac crest biopsy) from children with type III and type IV osteogenesis imperfecta (OI). Young's modulus and hardness values were not significantly different between the two clinical severity groups on either cortical or trabecular measurement. In comparing the ratio of modulus over hardness (E/H) between OI type III and IV. The type III bone showed a marginally significant decrease for cortical bone and significant decrease for trabecular bone, which indicated that the OI type III bone was more brittle than OI type IV bone at the tissue level. In addition, nanoindentation measurements of the bone tissue harvested at femur/tibia from the same patients were compared with the results from the iliac crest biopsy. Young's modulus and hardness values were not significantly different between the two anatomic locations in either cortical or trabecular measurements. The ratio of E/H was not significantly different between the two groups. Results indicate that intrinsic modulus, hardness, and indentation deformation pattern (E/H) of OI bone tissues are not significantly different at long bone (midshaft of femur/tibia) and iliac crest. We observed that age (1.9 to 13.2 years) did not influence OI bone tissue intrinsic mechanical properties.
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http://dx.doi.org/10.1080/03008200601090949 | DOI Listing |
Orphanet J Rare Dis
January 2025
Department of Pediatrics, Guangdong Provincial People's Hospital, The Second School of Clinical Medicine, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, 510080, China.
Background: Hepatic glycogen storage diseases (GSD) are inborn errors of metabolism with abnormal storage or utilization of glycogen, a complex disease with significant genetic heterogeneity and similar clinical manifestations. This study aimed to describe the gastrointestinal symptoms and endoscopic features of hepatic GSD, including types Ia, Ib, III, VI, and IX, to provide evidence for etiology and treatment.
Methods: A national cohort survey questionnaire was distributed to patients diagnosed with GSD type Ia, Ib, III, VI, and IX through genetic testing or their parents in mainland China in May 2022.
Reprod Sci
January 2025
Department of Zoology, Zakir Husain Delhi College (University of Delhi), J.L.N. Marg, New Delhi, 110002, India.
Polycystic Ovary Syndrome (PCOS) is among the most prevalent endocrinological abnormalities of young females, posing a grave public health challenge to the society. The objective of the present literature review is to analyze the enormous amount of information available by way of numerous multi-omic studies, and to explore a meaningful relationship between various factors such as genetic, proteomic, environmental etc. to understand the multifactorial metabolic disorder in a proper manner.
View Article and Find Full Text PDFInt J Surg Case Rep
January 2025
School of postgraduate, Amoud University, Somalia; Faculty of Science, Charles University, Czechia. Electronic address:
Introduction: Giant inguinoscrotal hernias (GIH), defined as hernias extending below the inner thigh midpoint in a standing position, are rare and often seen in resource-limited settings due to delayed medical care. These hernias pose surgical challenges, particularly in low- and middle-income countries (LMICs), where standardized management protocols are lacking, and risks such as cardiorespiratory compromise are significant.
Case Presentation: A 55-year-old male presented with a large, irreducible right inguinoscrotal hernia of 1.
Wiad Lek
January 2025
EXPERT-ANALYTICAL MEDICAL CENTER FOR MOLECULAR GENETICS, SHUPYK NATIONAL HEALTHCARE UNIVERSITY OF UKRAINE, KYIV, UKRAINE.
Objective: Aim: To determine the influence of maternal and neonatal variants of the eNOS (G894T, rs1799983) and IL1B (C3953T, rs1143634) genes and their intergenic interactions on the development of HIE in newborns.
Patients And Methods: Materials and Methods: The study included a cohort of 105 newborns and their 99 mothers. Determination of variants of the genes eNOS (G894T, rs1799983) and IL1B (C3953T, rs1143634) was carried out for the patients of study groups.
ACS Appl Mater Interfaces
January 2025
Department of Chemistry, Indian Institute of Technology Delhi, Hauz Khas, New Delhi 110016, India.
Hydrogen production via water-splitting or ammonia electrolysis using transition metal-based electrodes is one of the most cost-effective approaches. Herein, ca. 1-4% of Pt atoms are stuffed into a wolframite-type NiWO lattice to improve the electrocatalytic efficiency.
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