Biomedical subjects

Stefano Sartori

Publications and source records attributed to Stefano Sartori.

5 recordsLinked to original sources

PubMed2025

COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management.

PURPOSE: Collagen type 4 alpha 1 (COL4A1) and alpha 2 (COL4A2) chains, encoded by COL4A1 and COL4A2, are essential for basement membrane integrity, contributing to structural stability and cell regulation. Pathogenic variants in these genes cause a spectrum of autosomal dominant and, more rarely, autosomal recessive disorders, which are collectively known as COL4A1/A2-related disorders. These multisystem disorders can include neurologic, ophthalmologic, renal, and other organ system pathology and vary widely in symptoms, complicating diagnosis and management. METHODS: Using a modified eDelphi method, we obtained consensus from international experts across medical subspecialties on the evaluation and management of COL4A1/A2-related disorders, with consensus set at ≥70% agreement. RESULTS: Consensus was achieved on recommendations for evaluating and managing these conditions. CONCLUSION: Genetic testing and counseling are advised for individuals showing symptoms of COL4A1/A2-related disorders and for at-risk relatives. Given the complexity and rarity of these disorders, management requires a multidisciplinary approach informed by current understanding of disease mechanisms. Recommended care includes neurological and ophthalmological imaging and monitoring of cardiovascular and renal function. Ongoing research is critical to uncover genotype-phenotype links and potential modifiers, with clinical research participation encouraged to advance knowledge and treatments.

Humans↗

PubMed2006

A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease.

Pelizaeus-Merzbacher disease (PMD) and Pelizaeus-Merzbacher-like disease (PMLD) are hypomyelinating disorders of the central nervous system with a very similar phenotype. PMD is an X-linked disorder caused by mutations in PLP1. PMLD is an autosomal recessive condition caused by mutations in GJA12. We report a 5-year-old girl with a complex neurological syndrome and severe hypomyelination on brain magnetic resonance imaging. She harbored a homozygous 34-bp deletion in the coding region of GJA12. There are no distinctive features for the differential diagnosis of PMD/PMLD. GJA12 should be analyzed in all patients without PLP1 mutations but should also be considered the initial genetic test in women and in patients with consanguineous parents.

Base Sequence↗

PubMed2003

Ten-year follow-up in a maxillary sinus augmentation using anorganic bovine bone (Bio-Oss). A case report with histomorphometric evaluation.

Several bone grafting materials have been used in sinus augmentation procedures. Bio-Oss (deproteinized and sterilized bovine bone) has shown to have osteoconductive properties and no inflammatory or adverse responses have been published. In spite of these successful results, histologic data regarding bone augmentation using Bio-Oss in humans is scarce. The purpose of this study was to analyse the amount of Bio-Oss ossification in a case of maxillary sinus augmentation, recording and comparing histomorphometric data 8 months, 2 and 10 years after surgery. This long-term histologic evaluation of retrieved specimens has been performed, comparing histomorfometric measures at different times. Eight months after surgery we observed in 20 different thin sections of the specimen a mean amount of bone tissue (including medullar spaces) of 29.8% (and 70.2% of Bio-Oss) +/- 2.6. At 2 years the bone tissue increased to 69.7% + 2.7 and 10 years after surgery it was 86.7% +/- 2.8. The comparison of the means for each time has shown a highly significant increasing trend in bone formation associated with Bio-oss resorption: at 8 months, 2 and 10 years.

Alveolar Ridge Augmentation↗

PubMed2003

Comparison of infrabony defects treated with enamel matrix derivative versus guided tissue regeneration with a nonresorbable membrane.

AIM: The purpose of the present multicenter clinical trial was to compare the efficacy of two different procedures in the treatment of infrabony defects: guided tissue regeneration (GTR) with nonresorbable membranes and enamel matrix derivative (EMD). MATERIAL AND METHODS: Six centers participated in this study. Ninety-eight patients with an interproximal infrabony defect were selected. All patients were treated with an initial phase of scaling and root planing, and at the study's baseline the selected defects presented a value of probing depth (PD) > or =6 mm with an infrabony component > or =4 mm. Forty-nine patients were treated with GTR procedures (using ePTFE membranes (Gore-Tex W.L. Gore and Associates, Flagstaff, AZ, USA)) and forty-nine with EMDs (Emdogain (U Biora AB Malm, Sweden)). The efficacy of each treatment modality was investigated through covariance analysis. RESULTS: The patients were reevaluated at one year postop. Probing attachment level (PAL) gain and PD reduction were analyzed. In the Emdogain group the PAL before surgery (PAL 0) and the PD before surgery (PD 0) were respectively 9.9+/-1.4 and 8.5+/-1.6 mm. The PAL gain and the PD reduction at 1 year postsurgery were respectively 4.1+/-1.8 and 5.3+/-1.9 mm. The group of patients treated with membranes showed that PAL 0 and PD 0 were respectively 8.9+/-1.9 and 8.1+/-1.9. The PAL gain was 4.3+/-1.9 mm and the PD reduction was 5.6+/-1.5 mm. The mean PAL gain expressed by percentage (PAL gain/PAL 0) for the group treated with EMD was 41%, while it was 48% for the group treated with GTR. Results from our analysis suggest that there is no statistically significant difference between GTR and EMD treatments in terms of PAL gain, PD reduction and recession variation. Applying the regression model to a group of patients with a PAL 0 > or =8 mm, we observed a better clinical outcome in terms of PAL gain (difference of 0.3 mm) in patients treated with the GTR procedure compared to those treated with EMD. Covariance analysis showed a strong correlation in both groups of patients between PAL gain and full mouth bleeding score, and between PAL gain and defect morphology and depth.

Adult↗

PubMed2002

Endoperiodontal lesion. A case report.

The purpose of this case report is to present an unusual endoperiodontal lesion on tooth 46 in an 8-year-old child. The absence of any carious process and the presence of the typical radiographic aspect of an infrabony defect, led us to consider the periodontal aetiopathogenesis. In spite of all this, an accurate periodontal probing of all the teeth and the use of the pulp tester for teeth 46 and 36 led us to diagnose properly a truly endodontic lesion. The endodontic treatment of the involved tooth achieved the complete healing of the lesion.

Child↗