Background: There are age- and sex-related increases in the prevalence of osteoporosis. Bone densitometry based on dual energy X-ray absorptiometry (DXA) is the gold standard for the assessment of bone mineral density (BMD). Three-dimensional (3D) analysis of the proximal femur (3D-DXA) allows discrimination between cortical and trabecular compartments, and it has shown a good correlation with computed tomography. We aimed to assess age- and sex-related volumetric density differences in trabecular and cortical bone using 3D-DXA and determine the reference intervals for integral volumetric (v)BMD within the Argentine population. Methods: Healthy female and male adult subjects (N=1,354) from Argentina were included. Hip BMD was measured using DXA, and 3D analysis was performed using 3D-Shaper software. The integral vBMD, cortical surface BMD, and trabecular vBMD (trab vBMD) were measured. Results: The study population included 73.9% women (N=1,001) and 26.13% men (N=353). We found a significant decrease in integral vBMD between 20 and 90 years in both sexes (women, -23.1%; men, -16.6%). Bone loss indicated in the integral vBMD results was mainly due to a decrease in trabecular bone in both sexes (women, -33.4%; men, -27.7%). The age-related loss of cortical bone density was less and was limited to the female population, without no age-related differences in men. Moreover, 3D-DXA allowed us to propose reference intervals for integral vBMD. Conclusions We found age- and sex-related bone loss between 20 and 90 years in an Argentine cohort via integral vBMD measurements using 3D-DXA, mainly due to decreases in trabecular bone in both sexes. The age-related loss of cortical bone density was less and was limited to the female population.

Background: There are age- and sex-related increases in the prevalence of osteoporosis. Bone densitometry based on dual energy X-ray absorptiometry (DXA) is the gold standard for the assessment of bone mineral density (BMD). Three-dimensional (3D) analysis of the proximal femur (3D-DXA) allows discrimination between cortical and trabecular compartments, and it has shown a good correlation with computed tomography. We aimed to assess age- and sex-related volumetric density differences in trabecular and cortical bone using 3D-DXA and determine the reference intervals for integral volumetric (v)BMD within the Argentine population. Methods: Healthy female and male adult subjects (N=1,354) from Argentina were included. Hip BMD was measured using DXA, and 3D analysis was performed using 3D-Shaper software. The integral vBMD, cortical surface BMD, and trabecular vBMD (trab vBMD) were measured. Results: The study population included 73.9% women (N=1,001) and 26.13% men (N=353). We found a significant decrease in integral vBMD between 20 and 90 years in both sexes (women, -23.1%; men, -16.6%). Bone loss indicated in the integral vBMD results was mainly due to a decrease in trabecular bone in both sexes (women, -33.4%; men, -27.7%). The age-related loss of cortical bone density was less and was limited to the female population, without no age-related differences in men. Moreover, 3D-DXA allowed us to propose reference intervals for integral vBMD. Conclusions We found age- and sex-related bone loss between 20 and 90 years in an Argentine cohort via integral vBMD measurements using 3D-DXA, mainly due to decreases in trabecular bone in both sexes. The age-related loss of cortical bone density was less and was limited to the female population.

Background: There are age- and sex-related increases in the prevalence of osteoporosis. Bone densitometry based on dual energy X-ray absorptiometry (DXA) is the gold standard for the assessment of bone mineral density (BMD). Three-dimensional (3D) analysis of the proximal femur (3D-DXA) allows discrimination between cortical and trabecular compartments, and it has shown a good correlation with computed tomography. We aimed to assess age- and sex-related volumetric density differences in trabecular and cortical bone using 3D-DXA and determine the reference intervals for integral volumetric (v)BMD within the Argentine population. Methods: Healthy female and male adult subjects (N=1,354) from Argentina were included. Hip BMD was measured using DXA, and 3D analysis was performed using 3D-Shaper software. The integral vBMD, cortical surface BMD, and trabecular vBMD (trab vBMD) were measured. Results: The study population included 73.9% women (N=1,001) and 26.13% men (N=353). We found a significant decrease in integral vBMD between 20 and 90 years in both sexes (women, -23.1%; men, -16.6%). Bone loss indicated in the integral vBMD results was mainly due to a decrease in trabecular bone in both sexes (women, -33.4%; men, -27.7%). The age-related loss of cortical bone density was less and was limited to the female population, without no age-related differences in men. Moreover, 3D-DXA allowed us to propose reference intervals for integral vBMD. Conclusions We found age- and sex-related bone loss between 20 and 90 years in an Argentine cohort via integral vBMD measurements using 3D-DXA, mainly due to decreases in trabecular bone in both sexes. The age-related loss of cortical bone density was less and was limited to the female population.

Human ; Male ; Adult: 25-44 Yrs Old ; Madura Foot ; Mycetoma

Background: Skin metastases are rare yet crucial indicators of advanced disease. They can mimic various skin conditions, making them challenging to diagnose. Aims and Objectives: To investigate the incidence rate of biopsy-confirmed cutaneous metastasis and explore the clinical presentation, workup, and diagnostic techniques for skin metastases Materials and Methods: Local study involving comprehensive laboratory tests, pathological examination, and immunohistochemistry to identify primary tumors and confirm diagnoses. Results: Nodules were the most common manifestation of skin metastases, particularly in breast carcinoma. The chest wall and abdomen were frequent sites of involvement. Pathological examination and immunohistochemistry played a critical role in confirming diagnoses, revealing various histopathologic patterns. Immunohistochemical markers assisted in determining tumor origin but required careful interpretation. Monitoring tumor behavior over time provided insights into nature and origins. Conclusion Comprehensive workups including laboratory testing, pathology, and immunohistochemistry are essential for accurate diagnosis and management of skin metastases. Careful monitoring of tumor behavior can provide valuable information about its nature and origins.
Diagnosis

The concept of “precision medicine” has been a mainstay in discourses about the future of medicine, although it was not until the completion of the Human Genome Project that genetic associations to Mendelian diseases have risen dramatically. Since genetic variations in most (85%) monogenic or oligogenic diseases reside in exons, whole-exome sequencing (WES) serves as a pivotal tool in the identification of causative variants in genodermatoses and other diseases, leading to efficient and timely diagnosis. Here, we share our current diagnosis protocol for genodermatoses using WES as a first-tier solution. Two cases are presented to demonstrate the process of identifying germline variants and one case for a somatic variant. In the first case, a germline missense mutation in COL7A1 (exon73:c.G6127A) was identified for a patient that presented with clinical symptoms of dystrophic epidermolysis bullosa (DEB). Immunofluorescence study revealed decreased collagen VII expression in the dermal-epidermal junction. In case 2, we detected a germline missense mutation in KRT16 (exon1:c.374A>G) in a patient with palmoplantar keratoderma (PPK) and congenital pachyonychia. Sanger sequencing and segregation analysis confirmed the variant detected in WES. For case 3, a patient with linear nevus comedonicus was found to have a somatic missense mutation in NEK9 (exon4:c.500T>C), which was only detected in the lesional DNA sample. Thus, WES shows great potential as a diagnostic tool for monogenic or oligogenic genodermatoses. Since omics is a technology-driven tool, we expect that reaching precision medicine is ever closer.
Precision Medicine