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Biomedical subjects

Rui Fernandes

Publications and source records attributed to Rui Fernandes.

17 recordsLinked to original sources
PubMed2026

Virtual surgical planning-assisted versus free-hand head and neck reconstruction: Systematic review, meta-analysis, and a novel classification.

Virtual surgical planning (VSP)-assisted reconstruction is increasingly used as an alternative to conventional free-hand (FH) techniques in mandibular and maxillary free-flap reconstruction. This systematic review and meta-analysis compared clinical outcomes and proposed a Reconstruction Complexity-Completeness classification. PubMed/MEDLINE, Scopus, Web of Science, Google Scholar, and reference lists were searched from inception to 20 June 2026. Comparative studies were eligible. Risk of bias was assessed using RoB 2 or the Newcastle-Ottawa Scale. Random-effects meta-analyses used restricted maximum likelihood estimation and Hartung-Knapp adjustment. Forty-two studies included 2763 patients (1204 VSP; 1559 FH). VSP significantly reduced operative time (33 studies; MD -64.75 min, 95% CI -83.51 to -46.00), ischemia time (15 studies; MD -37.40 min, 95% CI -48.97 to -25.82), and hospital stay (16 studies; MD -1.75 days, 95% CI -3.43 to -0.08). VSP was associated with significantly lower odds of bony non-union (OR 0.31, 95% CI 0.16-0.59) and malocclusion (OR 0.14, 95% CI 0.03-0.64), whereas flap loss, surgical site infection, and plate exposure did not differ significantly. VSP-assisted reconstruction was associated with improved operative efficiency, shorter hospitalization, and lower odds of bony non-union and malocclusion, while no statistically significant differences were detected in flap loss, surgical site infection, or plate exposure. The proposed classification may support complexity-adjusted reporting and comparison.

Humans↗
PubMed2006

Repair of nasal complex fractures and the need for secondary septo-rhinoplasty.

PURPOSE: This study was undertaken to evaluate the efficacy of closed reduction of nasal fractures and determine the incidence of the need for post-traumatic septo-rhinoplasty in the management of residual nasal deformities. PATIENTS AND METHODS: Medical records of all patients with nasal fractures evaluated and treated by the Division of Oral and Maxillofacial Surgery at the University of Florida Health Science Center, Jacksonville, FL between January 2001 and October 2004 were retrospectively evaluated. Out of a total of 344 patients, 50 patients met the inclusion criteria. Forty-four patients (group A) underwent closed reduction of nasal bones and septum along with a septoplasty if needed within 2 weeks of initial injury. Six patients (group B) could not tolerate any surgical intervention because of multisystem injury or comorbidities. All 50 patients were then followed up in the Division of Oral and Maxillofacial Surgery to determine overall efficacy of the initial treatment modality, as well as the need for secondary post-traumatic septo-rhinoplasty. Group A was then further subdivided into groups A1 and A2. Group A1 consisted of patients who underwent a closed reduction of their nasal complex fracture without a residual deformity or the need for a secondary post-traumatic septo-rhinoplasty. Group A2 consisted of patients who underwent a closed reduction of their nasal complex fracture and developed a secondary nasal deformity significant enough to require a septo-rhinoplasty. RESULTS: The follow-up period ranged from 1 week to 12 months. Nine patients in group A were lost to follow-up. Patients in group A1 (31 patients) were pleased with their results and did not require a secondary surgery. Four patients developed a post-traumatic nasal deformity requiring a post-traumatic septo-rhinoplasty (group A2). All patients in group B required post-traumatic septo-rhinoplasty. CONCLUSION: Closed reduction of nasal fractures appears to be an effective method of treatment as long as careful attention is paid to the key regions in the nasal complex, including the septum at the initial time of treatment. Ideal results are obtained when surgery is performed within 2 weeks of initial injury. Factors such as timing of surgery, the status of the nasal septum, delay in treatment, and other associated injuries may influence the overall result.

Adolescent↗
PubMed2006

Desmoplastic fibroma of the jaw: a case report and review of literature.

Desmoplastic fibroma is a benign intraosseous neoplasm that is recognized as the intraosseous counterpart of soft tissue fibromatosis in both gnathic and extragnathic sites. It has a propensity for locally aggressive behavior and local recurrence. In the present report, we define the clinicopathological and radiographic features of a desmoplastic fibroma of the mandible in an 8-year-old white boy who initially presented with a 2-month history of a rapidly expanding, painless mass along the right inferior border of his mandible. A critical and comprehensive review of the English language literature is also provided.

Actins↗
PubMed2006

Immunization in familial amyloidotic polyneuropathy: counteracting deposition by immunization with a Y78F TTR mutant.

The mechanism of amyloid formation in familial amyloidotic polyneuropathy (FAP), a hereditary disorder associated with mutant transthyretin (TTR), is still unknown. It is generally believed that altered conformations exposing cryptic regions are intermediary steps in this mechanism. A TTR mutant--Y78F (transthyretin mutant with phenylalanine replacing tyrosine at position 78)--designed to destabilize the native structure has been shown to expose a cryptic epitope recognized by a monoclonal antibody that reacts only with highly amyloidogenic mutants presenting the amyloid fold or with amyloid fibrils. To test whether TTR deposition in FAP can be counteracted by antibodies for cryptic epitopes, we immunized with TTR Y78F, transgenic mice carrying the most common FAP-associated TTR mutant--V30M (transthyretin mutant with methionine replacing valine at position 30)--at selected ages that present normally with either nonfibrillar or TTR amyloid deposition. Compared to age-matched control nonimmunized mice, Y78F-immunized mice had a significant reduction in TTR deposition usually found in this strain, in particular in stomach and intestine; by contrast, animals immunized with V30M did not show differences in deposition in comparison with nonimmunized mice. Immunohistochemical analyses of tissues revealed that immunization with Y78F lead to infiltration by lymphocytes and macrophages at common deposition sites, but not in tissues such as liver, choroid plexus, and Langerhans islets, in which TTR is produced. These results suggest that Y78F induced production of an antibody that reacts specifically with deposits and leads to an immune response effective in removing/preventing TTR deposition. Therefore, TTR immunization with selected TTR mutants has potential application in immune therapy for FAP.

Amyloid Neuropathies, Familial↗
PubMed2005

Oral plasmablastic lymphoma in an HIV-negative patient: a case report and review of the literature.

Plasmablastic lymphoma is an HIV-associated non-Hodgkin's lymphoma that primarily affects the oral cavity and jaws. The purpose of this report is to describe the first case of plasmablastic lymphoma occurring in an HIV-negative, nonimmunocompromised individual, and to review the histopathologic and immunohistochemical phenotype of this lymphoma. Histopathologically, our case exhibited a dense, diffuse lymphocytic infiltrate of noncohesive large lymphocytes with plasmacytoid features. Immunohistochemical analysis revealed positivity for the B-cell marker CD79a, VS38c, Epstein-Barr virus latent membrane protein (LMP), immunoglobulin G (IgG), and lambda light chain restriction. Neoplastic cells were negative for leukocyte common antigen, CD20, CD3, CD10, CD138, Bcl-2, Bcl-6, desmin, actin, EMA, S-100, HMB45, Alk-1, HHV8, IgA, IgM, and cytokeratin. The features of this rare disease are summarized based on a comprehensive review of the epidemiologic, clinical and immunohistochemical findings of previously reported cases.

HIV Seronegativity↗
PubMed2004

Resorbable mesh as a containment system in reconstruction of the atrophic mandible fracture.

PURPOSE: The purpose of this article is to introduce the use of a resorbable material (L-lactide, Co DL-lactide) to help contain the bone graft used during the reconstruction of the edentulous atrophic mandibular fracture. TECHNIQUE: After the mandibular fracture was reduced and fixated with a large reconstruction plate, the resorbable mesh was contoured with scissors and a hot water bath. The mesh was secured into position with 1.5-mm tacks to the inferior border or buccal cortical plate of the mandible. The material was then filled with particulate bone graft harvested from the medial aspect of the anterior iliac crest. RESULTS: Two patients had augmentation of the superior aspect of the mandible and one patient had augmentation of the inferior aspect of the mandible. All patients were augmented at least 10 to 12 millimeters. The mean follow-up was 25 months. All went on to heal to complete bony union. CONCLUSION: This material can be used as a containment system when bone grafting the edentulous atrophic mandible fracture.

Absorbable Implants↗
PubMed2004

Deposition and passage of transthyretin through the blood-nerve barrier in recipients of familial amyloid polyneuropathy livers.

Familial amyloid polyneuropathy (FAP) is characterized by deposition of mutated transthyretin (TTR) in the peripheral nervous system. Prior to amyloid fibrils, nonfibrillar TTR aggregates are deposited inducing oxidative stress with increased nitration (3-NT). As the major source of TTR is the liver, liver transplantation (LT) is used to halt FAP. Given the shortage of liver donors, domino LT (DLT) using FAP livers is performed. The correlation between TTR deposition in the skin and nerve was tested in biopsies from normal individuals, asymptomatic carriers (FAP 0) and FAP patients; in FAP 0, nonfibrillar TTR was observed both in the skin and nerve in the same individuals; in patients, amyloid was detected in both tissues. The occurrence of amyloidosis in recipients of FAP livers was evaluated 1-7 years after DLT: TTR deposition occurred in the skin 3 years after transplantation either as amyloid or aggregates; in one of the recipients, fibrillar TTR was present in the epineurium 6 years after DLT. Deposits were scarce and 3-NT immunostaining was irrelevant. Nerve biopsies from DLT recipients had no FAP-related neuropathy. Our findings suggest that TTR amyloid formation occurs faster than predicted and that TTR of liver origin can cross the blood-nerve barrier. Recipients of FAP livers should be under surveillance for TTR deposition and tissue damage.

Adult↗
PubMed2004

Familial amyloidotic polyneuropathy: protein aggregation in the peripheral nervous system.

The molecular pathology underlying transthyretin (TTR)-related amyloidosis is largely unknown. It is possible that a common factor in the amyloidogenesis process exists among the different forms; this common factor can involve changes produced by mutations in the three-dimensional structure of TTR, rendering it prone to deposition as amyloid. This amyloidogenic potential, together with other yet unidentified factors, contribute to amyloid deposition. The factors that trigger fibril formation and/or neurodegeneration in TTR-related amyloidosis present central questions for which there are still no available clues. We recently showed in vitro that TTR fibrils trigger NF-kappaB activation, and subsequent studies identified some inflammatory and apoptotic pathways opening perspectives to understand the neurodegeneration process in familial amyloidotic polyneuropathy (FAP). It is current opinion that the modified TTR represents an amyloidogenic intermediate, which integrates the fibril structure; analyses of FAP fibrils have proved that TTR in the fibrils maintains a beta-conformation and have suggested that the TTR monomer is the building block in fibrils. This concept has been questioned recently by investigators, and only future studies on native and synthetic TTR fibrils using high-resolution structural techniques will further elucidate fibril structure and the aggregation pathway. Modulators responsible for phenotypic diversity can be addressed by mice transgenic for different human TTR mutations. Different lines are now available; incomplete penetrance and environmental influence on the deposition of mutant TTR has been observed. Therefore, these animals constitute important tools to address modulators of phenotypic expression and pathophysiological consequences of amyloid deposition at cellular/molecular levels. They are pivotal for testing potential drugs for TTR amyloidosis as well.

Amyloid↗
PubMed2003

Gelsolin-related familial amyloidosis, Finnish type, in a Portuguese family: clinical and neurophysiological studies.

We report a Portuguese family with familial amyloid polyneuropathy related to gelsolin. There were no known Finnish ancestors, but the same mutation as described in Finnish patients (G654A) was carried. Clinical and neurophysiological investigations were performed in four patients. Corneal lattice dystrophy affected all four patients; an axonal lesion of the facial nerve occurred in three patients; visual tract involvement was documented in one case; and corticospinal and posterior column dysfunction was present in one patient. Polarizing microscopy of skin and muscle samples demonstrated amyloid deposits in two patients; anti-gelsolin immunohistochemistry was positive for amyloidogenic gelsolin. The Finnish mutation of gelsolin protein (G654A) was detected in five family members. The utility of neurophysiological testing in the evaluation and follow-up of this type of amyloidosis is discussed.

Adult↗
PubMed2002

Evidence for early cytotoxic aggregates in transgenic mice for human transthyretin Leu55Pro.

Familial amyloidotic polyneuropathy (FAP) is a lethal autosomal dominant disorder characterized by systemic extracellular deposition of transthyretin (TTR) amyloid fibrils. Several groups have generated transgenic mice carrying human TTR Val30Met, the most common mutation in FAP. To study amyloidogenicity and cytotoxicity of different TTRs, we produced transgenic mice expressing human TTR Leu55Pro, one of the most aggressive FAP-related mutations. TTR deposition and presence of amyloid fibrils was investigated and compared to animals carrying the human TTR Val30Met gene kept under the same conditions. Deposition in a C57BL/6J background (TTR-Leu55Pro mice) and in a TTR-null background [TTR-Leu55Pro X TTR-knockout (KO) mice] was compared. Animals in a C57BL/6J background presented early (1 to 3 months) nonfibrillar TTR deposition but amyloid was absent. In a TTR-null background, presence of amyloid fibrils was detected starting at 4 to 8 months with a particular involvement of the gastrointestinal tract and skin. This data suggested that TTR homotetramers are more prone to fibril formation than TTR murine wild-type/human mutant heterotetramers. The nature of the deposited material was further investigated by immunocytochemistry. Both amorphous aggregates and small TTR fibrils were present in TTR-Leu55Pro X TTR-KO transgenics. We observed that these TTR deposits mimic the toxic effect of TTR deposits in FAP: animals with TTR deposition, present approximately twofold increased levels of nitrotyrosine in sites related to deposition. The TTR-Leu55Pro X TTR-KO mice here described are an important tool for the dual purpose of investigating factors involved in amyloidogenesis and in cytotoxicity of deposited TTR.

Amyloid↗