Browsing by Subject "Ptosis"

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    Breast Implant Reconstruction in the Ptotic Patient: Evaluation of Wise and Vertical Skin Sparing Mastectomy
    (Sage, 2024-03-12) Holohan, M. Margaret; Diaz, Stephanie M.; Newsom, Keeley; Smith, Alex; Fan, Betty; Imeokparia, Folasade O.; Fisher, Carla S.; Ludwig, Kandice K.; Lester, Mary E.; Hassanein, Aladdin H.; Surgery, School of Medicine
    Introduction: Post-mastectomy reconstruction in patients with severe breast ptosis can be challenging. Traditionally, a skin sparing mastectomy (SSM) with a circumareolar incision or a horizontal elliptical extension results in a long, horizontally-oriented scar in the central breast. The Wise pattern SSM with an inferiorly-based dermal flap addresses skin redundancy and provides added vascularized implant coverage in ptotic patients with macromastia. The purpose of this study is to compare outcomes in ptotic patients undergoing SSM with Wise pattern and a modified vertical technique which also uses de-epithelialized excess skin under the incision. Methods: A retrospective chart review was performed on patients that underwent SSM using a Wise or vertical skin reducing technique. The Wise pattern was performed using an inferiorly-based dermal flap and the vertical method used a laterally-based dermal flap covering the implant/tissue expander (TE). Results: SSM with the use of autoderm was performed in 42 patients (67 breasts) using either the Wise (n = 49 breasts) or vertical (n = 18 breasts) method. Both groups had similar BMI (35.4). The prepectoral plane was used in 93.5% of Wise pattern patients and all vertical patients. All cases of seroma and hematoma occurred in the Wise pattern group (10.2%). Mastectomy skin necrosis requiring unplanned return to surgery for debridement occurred in 20.4% of those undergoing Wise pattern SSM and 11.1% undergoing the vertical pattern (p = 0.49). Conclusion: Severely ptotic patients undergoing SSM have a high risk of skin necrosis. A dermal flap under the closure has the advantage of vascularized tissue reinforcing the wound in implant based reconstruction. The vertical pattern SSM using a laterally-based dermal flap may be a safe, simple alternative to the Wise pattern in select patients.
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    UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism
    (Cell Press, 2021-01-07) Li, Chunmei; Beauregard-Lacroix, Eliane; Kondratev, Christine; Rousseau, Justine; Heo, Ah Jung; Neas, Katherine; Graham, Brett H.; Rosenfeld, Jill A.; Bacino, Carlos A.; Wagner, Matias; Wenzel, Maren; Al Mutairi, Fuad; Al Deiab, Hamad; Gleeson, Joseph G.; Stanley, Valentina; Zaki, Maha S.; Kwon, Yong Tae; Leroux, Michel R.; Campeau, Philippe M.; Medical and Molecular Genetics, School of Medicine
    The ubiquitin-proteasome system facilitates the degradation of unstable or damaged proteins. UBR1-7, which are members of hundreds of E3 ubiquitin ligases, recognize and regulate the half-life of specific proteins on the basis of their N-terminal sequences ("N-end rule"). In seven individuals with intellectual disability, epilepsy, ptosis, hypothyroidism, and genital anomalies, we uncovered bi-allelic variants in UBR7. Their phenotype differs significantly from that of Johanson-Blizzard syndrome (JBS), which is caused by bi-allelic variants in UBR1, notably by the presence of epilepsy and the absence of exocrine pancreatic insufficiency and hypoplasia of nasal alae. While the mechanistic etiology of JBS remains uncertain, mutation of both Ubr1 and Ubr2 in the mouse or of the C. elegans UBR5 ortholog results in Notch signaling defects. Consistent with a potential role in Notch signaling, C. elegans ubr-7 expression partially overlaps with that of ubr-5, including in neurons, as well as the distal tip cell that plays a crucial role in signaling to germline stem cells via the Notch signaling pathway. Analysis of ubr-5 and ubr-7 single mutants and double mutants revealed genetic interactions with the Notch receptor gene glp-1 that influenced development and embryo formation. Collectively, our findings further implicate the UBR protein family and the Notch signaling pathway in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism that differs from JBS. Further studies exploring a potential role in histone regulation are warranted given clinical overlap with KAT6B disorders and the interaction of UBR7 and UBR5 with histones.