Browsing by Author "Devoto, M"
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- Autologous Fat Transfer with SEFFI (Superficial Enhanced Fluid Fat Injection) Technique in Periocular ReconstructionPublication . Riesco, B; Abascal, C; Duarte, A; Flores, RM; Rouaux, G; Sampayo, R; Bernardini, F; Devoto, MPURPOSE: To evaluate the aesthetic and functional outcomes of autologous fat transfer using the SEFFI (superficial enhanced fluid fat injection) technique for reconstruction of the periocular area. METHODS: Autologous fat injections prepared with the 0.5 mL and 0.8 mL SEFFI technique were used in four patients for periocular rehabilitation. RESULTS: Case 1 (C1): A patient with left-sided progressive facial hemiatrophy underwent ipsilateral volumizing with 0.8 SEFFI in the superior, temporal, and inferior periorbital areas, and 0.5 SEFFI in both eyelids. C2: A 21-year-old female with a post trauma frontal scar, left ptosis, and lower eyelid retraction was treated with 0.5 SEFFI applied in the scar area associated with an upper eyelid conjunctivomullerectomy and resection of the lower eyelid retractors. C3: A patient with previous left-eye evisceration and orbital floor and medial wall fractures underwent socket reconstruction with buccal mucosal graft in the lower fornix and 0.5 SEFFI injections in both superior and inferior eyelids. SEFFI was also applied in the intraorbital space for correction of the enophthalmos. C4: A patient with lower lid retraction post blepharoplasty was treated with 0.8 SEFFI injections in lower eyelids and malar areas, complemented with a bilateral lateral cantopexy. CONCLUSIONS: Autologous fat transfer with SEFFI technique is an effective and safe procedure in cases of periocular rehabilitation.
- Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune DysregulationPublication . Ouahed, J; Kelsen, JR; Spessott, WA; Kooshesh, K; Sanmillan, ML; Dawany, N; Sullivan, KE; Hamilton, KE; Slowik, V; Nejentsev, S; Farela Neves, J; Flores, H; Chung, WK; Wilson, A; Anyane-Yeboa, K; Wou, K; Jain, P; Field, M; Tollefson, S; Dent, MH; Li, D; Naito, T; McGovern, DPH; Kwong, AC; Taliaferro, F; Ordovas-Montanes, J; Horwitz, BH; Kotlarz, D; Klein, C; Evans, J; Dorsey, J; Warner, N; Elkadri, A; Muise, AM; Goldsmith, J; Thompson, B; Engelhardt, KR; Cant, AJ; Hambleton, S; Barclay, A; Toth-Petroczy, A; Vuzman, D; Carmichael, N; Bodea, C; Cassa, CA; Devoto, M; Maas, RL; Behrens, EM; Giraudo, CG; Snapper, SBBackground and aims: Very early onset inflammatory bowel disease [VEOIBD] is characterized by intestinal inflammation affecting infants and children less than 6 years of age. To date, over 60 monogenic aetiologies of VEOIBD have been identified, many characterized by highly penetrant recessive or dominant variants in underlying immune and/or epithelial pathways. We sought to identify the genetic cause of VEOIBD in a subset of patients with a unique clinical presentation. Methods: Whole exome sequencing was performed on five families with ten patients who presented with a similar constellation of symptoms including medically refractory infantile-onset IBD, bilateral sensorineural hearing loss and, in the majority, recurrent infections. Genetic aetiologies of VEOIBD were assessed and Sanger sequencing was performed to confirm novel genetic findings. Western analysis on peripheral blood mononuclear cells and functional studies with epithelial cell lines were employed. Results: In each of the ten patients, we identified damaging heterozygous or biallelic variants in the Syntaxin-Binding Protein 3 gene [STXBP3], a protein known to regulate intracellular vesicular trafficking in the syntaxin-binding protein family of molecules, but not associated to date with either VEOIBD or sensorineural hearing loss. These mutations interfere with either intron splicing or protein stability and lead to reduced STXBP3 protein expression. Knock-down of STXBP3 in CaCo2 cells resulted in defects in cell polarity. Conclusion: Overall, we describe a novel genetic syndrome and identify a critical role for STXBP3 in VEOIBD, sensorineural hearing loss and immune dysregulation.