0000000000203899

AUTHOR

C. Giuseppe

showing 3 related works from this author

PROBLEMS OF DIFFERENTIAL DIAGNOSIS IN PALEOPATHOLOGY

2021

This work discusses on the problems of the differential diagnosis in paleopathology, describing one case of intense modification observed in a skeletal sample from the archaelogical site of Baucina (Sicily, VI century BCE). Difficulties in this setting originate mainly from the aspecificity or absence of pathological markers on ancient bones and confounding features arising from clinical phenocopies or taphonomic artifacts. On the base of an in-depth morphological analysis of the find, with aid of CT scan imaging and wide revision of the medical and paleopathological literature, we arrived to a convincing diagnosis.

Differential diagnosisanthropologySettore BIO/08 - Antropologia
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Current epidemiological trends and outcome in a large cohort of acute hepatitis C patients.

2005

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Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial…

2022

: Background A significant proportion of individuals clinically diagnosed with familial hypercholesterolemia (FH), but without any disease-causing mutation, are likely to have polygenic hypercholesterolemia. We evaluated the distribution of a polygenic risk score, consisting of 12 low-density lipoprotein cholesterol (LDL-C)-raising variants (polygenic LDL-C risk score), in subjects with a clinical diagnosis of FH. Methods and Results Within the Lipid Transport Disorders Italian Genetic Network (LIPIGEN) study, 875 patients who were FH-mutation positive (women, 54.75%; mean age, 42.47±15.00 years) and 644 patients who were FH-mutation negative (women, 54.21%; mean age, 49.73±13.54 years) wer…

MaleAdultMultifactorial InheritanceSettore MED/09 - Medicina Internafamilial hypercholesterolemia; molecular diagnosis; polygenic risk score; Adult; Cholesterol LDL; Female; Humans; Middle Aged; Multifactorial Inheritance; Mutation; Gene Regulatory Networks; Hyperlipoproteinemia Type IIfamilial hypercholesterolemiaCholesterol LDLMiddle AgedLDLHyperlipoproteinemia Type IICholesterolmolecular diagnosispolygenic risk scoreMutationHumansFemaleGene Regulatory Networksmolecular diagnosifamilial hypercholesterolemia; molecular diagnosis; polygenic risk score
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