(1) Introduction: Medical malpractice claims against both health institutions and physicians are a crucial topic in Italy, as well as in other countries, particularly regarding civil proceedings. Our study reports an analysis of all of the malpractice judgments concerning plastic surgery decided in the Civil Court of Rome between 2012 and 2016. (2) Methods: the database of the Observatory Project on Medical Responsibility (ORMe) was analyzed, which collects all of the judgments of the Civil Court of Rome, that is, the first instance district court. Therefore, neither the jurisprudence of the second level court nor that of the Supreme Court was taken into account. (3) Results: 144 judgments concerning plastic surgery were delivered in the five-year period of 2012–2016 (corresponding to 10.6% of total professional liability verdicts of the Civil Court of Rome in the same period). In 101/144 cases (70.14%), the claim was accepted. A total of €4,727,579.00 was paid in compensation for plastic surgery malpractice claims, with a range from a minimum amount of €1555.96 to a maximum amount of €1,425,155.00 and an average compensation of €46,807.71 per claim that was significantly lower compared to other surgical disciplines. (4) Conclusions: Our data confirm that the analyzed branch has a high litigation rate, with a prevalence of convictions for cosmetic procedures over reconstructive ones, both for malpractice and for violation of the informed consent. Plastic surgery is also confirmed among those branches in which the professionals are more frequently sued compared to health institutions.
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease, and it is typically caused by PKD1 and PKD2 heterozygous variants. Nonetheless, the extensive phenotypic variability observed among affected individuals, even within the same family, suggests a more complex pattern of inheritance. We describe an ADPKD family in which the proband presented with an earlier and more severe renal phenotype (clinical diagnosis at the age of 14 and end-stage renal disease aged 24), compared to the other affected family members. Next-generation sequencing (NGS)-based analysis of polycystic kidney disease (PKD)-associated genes in the proband revealed the presence of a pathogenic PKD2 variant and a likely pathogenic variant in PKD1, according to the American College of Medical Genetics and Genomics (ACMG) criteria. The PKD2 nonsense p.Arg872Ter variant was segregated from the proband’s father, with a mild phenotype. A similar mild disease presentation was found in the proband’s aunts and uncle (the father’s siblings). The frameshift p.Asp3832ProfsTer128 novel variant within PKD1 carried by the proband in addition to the pathogenic PKD2 variant was not found in either parent. This report highlights that the co-inheritance of two or more PKD genes or alleles may explain the extensive phenotypic variability among affected family members, thus emphasizing the importance of NGS-based techniques in the definition of the prognostic course.
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