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Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Dise...

Ouahed, J; Kelsen, JR; Spessott, WA; Kooshesh, K; Sanmillan, ML; Dawany, N; Sullivan, KE; Hamilton, KE; Slowik, V; Nejentsev, S; Farela Neves, J

Background 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...


Autologous Fat Transfer with SEFFI (Superficial Enhanced Fluid Fat Injection) T...

Riesco, B; Abascal, C; Duarte, A; Flores, RM; Rouaux, G; Sampayo, R; Bernardini, F; Devoto, M

PURPOSE: 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 hemi...


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