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ŞEKER, ÜMMÜHAN

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ŞEKER

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ÜMMÜHAN

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2019 - 201912020 - 20221
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    Publication
    A novel homozygous nonsense mutation in CAST associated with PLACK syndrome
    (Springer, 2019-07-08) Temel, Şehime Gülsün; Karakaş, B.; Şeker, U.; Türkgenç, B.; Zorlu, O.; Sarıcaoğlu, H.; Ögür, C.; Kutuk, O.; Kelsell, D. P.; Yakıcıer, M. C.; TEMEL, ŞEHİME GÜLSÜN; ŞEKER, ÜMMÜHAN; Zorlu, Özge; SARICAOĞLU, HAYRİYE; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Histoloji ve Embriyoloji Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Dermatoloji Anabilim Dalı.; 0000-0001-5555-130X; AAG-8385-2021; JCN-9554-2023; ABD-1191-2021; DPU-8534-2022
    Peeling skin syndrome is a heterogeneous group of rare disorders. Peeling skin, leukonychia, acral punctate keratoses, cheilitis and knuckle pads (PLACK syndrome, OMIM616295) is a newly described form of PSS with an autosomal recessive mode of inheritance. We report a 5.5-year-old boy with features of PLACK syndrome. Additionally, he had mild cerebral atrophy and mild muscle involvements. Whole exome sequencing was performed in genomic DNA of this individual and subsequent analysis revealed a homozygous c.544G > T (p.Glu182*) nonsense mutation in the CAST gene encoding calpastatin. Sanger sequencing confirmed this variant and demonstrated that his affected aunt was also homozygous. Real-time qRT-PCR and immunoblot analysis showed reduced calpastatin expression in skin fibroblasts derived from both affected individuals compared to heterozygous family members. In vitro calpastatin activity assays also showed decreased activity in affected individuals. This study further supports a key role for calpastatin in the tight regulation of proteolytic pathways within the skin.
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    Efficacy of omalizumab treatment in patients with asthma-chronic obstructive pulmonary disease overlap (aco)
    (Bilimsel Tip Yayinevi, 2022-01-19) Ediger, Dane; EDİGER, DANE; Erbay, Müge; ERBAY, MÜGE; Şeker, Ümmühan; ŞEKER, ÜMMÜHAN; Bursa Uludağ Üniversitesi/Tıp Fakültesi.; 0000-0002-2954-4293; AAE-9142-2019; HJA-1363-2022; JCN-9554-2023
    Objective: Although the precise definition of asthma-chronic obstructive pulmonary disease overlap (ACO) is still controversial, patients sharing common features of both diseases are frequently seen in clinical practice. Current literature suggests that patients with ACO have higher risk of morbidity and mortality than those with asthma or chronic obstructive pulmonary disease (COPD) alone. Omalizumab, a monoclonal anti-IgE monoclonal antibody, has proven to be effective in moderate-to-severe allergic asthma, but data on the efficacy of omalizumab in patients with ACO are limited. To determine the efficacy of omalizumab in patients with ACO.Materials and Methods: We assessed the effectiveness of omalizumab on 12 patients who met the criteria of ACO, using data from medical files of patients with severe allergic asthma who were treated with omalizumab between 2013 and 2018 at a University hospital.Results: Five (41.7%) patients responded well and seven (58.3%) patients responded partially to omalizumab treatment. Decreased number of hospitalizations and exacerbations (p = 0.016 and p = 0.003, respectively) and increased asthma control test results (ACT) (p=0.003) were observed after omalizumab treatment. No significant improvement in pulmonary function tests (FEV1%, FEV1(liter), FEV1/FVC) was found (p=0.444, p=0.208, p=0.510, respectively).Conclusion: Omalizumab was found to reduce asthma exacerbations and improve asthma control in a group of patients with ACO.