Microsurgical Reconstruction of Lower Extremity in Homozygosity of C677t MTHFR Gene Mutation: Case Report and Review of the Literature

Longo, Benedetto; Giacalone, Martina; D’Orsi, Gennaro; Gagliano, Elettra; Vannucchi, Lisa; Ferracci, Antonella; Iundusi, Riccardo; Tarantino, Umberto; Cervelli, Valerio

doi:10.57604/prrs-160

Cited by 6 publications

(3 citation statements)

References 27 publications

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“…The collaboration between the two departments (i.e., the Department of Transfusion Medicine and the Department of Reconstructive Surgery) resulted in the application of a therapeutic protocol with erythropoietic stimulating agents (ESAs) (Binocrit 6000 UI/week) and intravenous iron every other day, starting from the second day after surgery [32]. Thirteen patients received ESAs and ferric carboxymaltose (FCM) (500-1000 mg per session), and three patients received ESAs and iron gluconate (1 vial every other day).…”

Section: Resultsmentioning

confidence: 99%

Patient Blood Management in Microsurgical Procedures for Reconstructive Surgery

Rondinelli,

Weltert,

Ruocco

et al. 2023

Diagnostics

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Introduction: The main purpose of reconstructive surgery (RS) is to restore the integrity of soft tissues damaged by trauma, surgery, congenital deformity, burns, or infection. Microsurgical techniques consist of harvesting tissues that are separated from the vascular sources of the donor site and anastomosed to the vessels of the recipient site. In these procedures, there are some preoperative modifiable factors that have the potential to influence the outcome of the flap transfer and its anastomosis. The management of anemia, which is always present in the postoperative period and plays a decisive role in the implantation of the flap, covers significant importance, and is associated with clinical and laboratory settings of chronic inflammation. Methods: Chronic inflammatory anemia (ACD) is a constant condition in patients who have undergone RS and correlates with the perfusion of the free flap. The aim of this treatment protocol is to reduce the transfusion rate by maintaining both a good organ perfusion and correction of the patient’s anemic state. From January 2017 to September 2019, we studied 16 patients (16 males, mean age 38 years) who underwent microsurgical procedures for RS. Their hemoglobin (Hb) levels, corpuscular indexes, transferrin saturation (TSAT) ferritin concentrations and creatinine clearance were measured the first day after surgery (T0), after the first week (T1), and after five weeks (T2). At T0, all the patients showed low hemoglobin levels (average 7.4 g/dL, STD 0.71 range 6.2–7.4 g dL−1), with an MCV of 72, MCH of 28, MCHC of 33, RDW of 16, serum iron of 35, ferritin of 28, Ret% of 1.36, TRF of 277, creatinine clearance of 119 and high ferritin levels (range 320–560 ng mL−1) with TSAT less than 20%. All the patients were assessed for their clinical status, medical history and comorbidities before the beginning of the therapy. Results: A collaboration between the two departments (Department of Transfusion Medicine and Department of Reconstructive Surgery) resulted in the application of a therapeutic protocol with erythropoietic stimulating agents (ESAs) (Binocrit 6000 UI/week) and intravenous iron every other day, starting the second day after surgery. Thirteen patients received ESAs and FCM (ferric carboxymaltose, 500–1000 mg per session), three patients received ESAs and iron gluconate (one vial every other day). No patients received blood transfusions. No side effects were observed, and most importantly, no limb or flap rejection occurred. Conclusions: Preliminary data from our protocol show an optimal therapeutic response, notwithstanding the very limited scientific literature and data available in this specific surgical field. The enrollment of further patients will allow us to validate this therapeutic protocol with statistically sound data.

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Section: Resultsmentioning

confidence: 99%

Patient Blood Management in Microsurgical Procedures for Reconstructive Surgery

Rondinelli,

Weltert,

Ruocco

et al. 2023

Diagnostics

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“…Cytology and immunohistochemistry, including CD30, ALK, CK 5/6, p63, and flow cytometry to search for T-cells, squamous cells, and keratin, are key to the differential diagnosis. Further investigation with MRI is required in the cases of suspected implant rupture and to outline the presence of periprosthetic masses [63,64]. PEC-CT evaluation is key to assessing the presence of distant metastasis and disease staging in both tumors [65,66].…”

Section: Discussionmentioning

confidence: 99%

BIA-ALCL and BIA-SCC: Updates on Clinical Features and Genetic Mutations for Latest Recommendations

D’Orsi,

Giacalone,

Calicchia

et al. 2024

Medicina

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Breast Implant-Associated Anaplastic Large Cell Lymphoma (BIA-ALCL) and Breast Implant-Associated Squamous Cell Carcinoma (BIA-SCC) are emerging neoplastic complications related to breast implants. While BIA-ALCL is often linked to macrotextured implants, current evidence does not suggest an implant-type association for BIA-SCC. Chronic inflammation and genetics have been hypothesized as key pathogenetic players, although for both conditions, the exact mechanisms and specific risks related to breast implants are yet to be established. While the genetic alterations in BIA-SCC are still unknown, JAK-STAT pathway activation has been outlined as a dominant signature of BIA-ALCL. Recent genetic investigation has uncovered various molecular players, including MEK-ERK, PI3K/AKT, CDK4-6, and PDL1. The clinical presentation of BIA-ALCL and BIA-SCC overlaps, including most commonly late seroma and breast swelling, warranting ultrasound and cytological examinations, which are the first recommended steps as part of the diagnostic work-up. While the role of mammography is still limited, MRI and CT-PET are recommended according to the clinical presentation and for disease staging. To date, the mainstay of treatment for BIA-ALCL and BIA-SCC is implant removal with en-bloc capsulectomy. Chemotherapy and radiation therapy have also been used for advanced-stage BIA-ALCL and BIA-SCC. In-depth characterization of the tumor genetics is key for the development of novel therapeutic strategies, especially for advanced stage BIA-ALCL and BIA-SCC, which show a more aggressive course and poor prognosis.

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“…Despite various techniques described for open calcaneal fractures reconstruction, there is currently no universally accepted gold standard of treatment. Tailored approaches are often employed, taking into consideration the defect type and size, the presence of post-traumatic complications, and patients' comorbidities [3][4][5] . In cases involving calcaneal bone loss requiring bone augmentation, reconstructive strategies might encompass the use of bone autografts or allografts, vascularized or pedicle bone autograft flaps, and composite allograft with vascularized fibula or medial femoral condyle flap [6][7][8][9] .…”

Section: Introductionmentioning

confidence: 99%

Calcaneal Hybrid Reconstruction With Femur Head Allograft Enriched With Bone Marrow and Alt Flap

Longo,

Giacalone,

Iundusi

et al. 2023

PRRS

Self Cite

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Open calcaneal fractures with bone and soft tissue loss often require complex reconstructive strategies aimed at restoring the hind-foot anatomy and physiologic ambulation. Although there is no established gold standard for treatment, the techniques utilized include bone autografts and allografts, composite flaps, and prosthesis. We report the case of a 43-year-old healthy man, who suffered an open fracture of the right calcaneus with bone loss and a wide soft tissue defect, following a motorcycle accident. After the emergency management, a reconstruction with a femur head allograft and free anterolateral thigh flap (ALT) was planned. The allograft was shaped with the aid of 3D-printed models of the defect and residual calcaneal bone. Concentrated bone marrow aspirate (cBMA) was utilized as a biological adjunct to promote osteointegration by enhancing new bone formation. The soft tissue defect was reconstructed with an anterolateral thigh flap (ALT), harvested from the contralateral thigh, and anastomosed with the posterior tibial vessels. Off-label treatment with Teriparatide was initiated postoperatively, to further boost the healing process. The reconstruction was successful, with full weight bearing reached at 6 post-operative months, and no reported complications over the 8 months follow-up.

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Microsurgical Reconstruction of Lower Extremity in Homozygosity of C677t MTHFR Gene Mutation: Case Report and Review of the Literature

Cited by 6 publications

References 27 publications

Patient Blood Management in Microsurgical Procedures for Reconstructive Surgery

Patient Blood Management in Microsurgical Procedures for Reconstructive Surgery

BIA-ALCL and BIA-SCC: Updates on Clinical Features and Genetic Mutations for Latest Recommendations

Calcaneal Hybrid Reconstruction With Femur Head Allograft Enriched With Bone Marrow and Alt Flap

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