Researcher:
Akkaya, Ayşe Deniz

Profile Picture
ORCID

Job Title

Doctor

First Name

Ayşe Deniz

Last Name

Akkaya

Name

Name Variants

Akkaya, Ayşe Deniz

Email Address

Birth Date

Filters

2016 - 20194

Advanced Search

Filter by

Settings

Researcher Of Publications: search.filters.isAuthorOfPublication.9aa2cbd7-b006-4198-b447-08af5124f6dd

Search Results

Now showing 1 - 4 of 4
  • Placeholder
    PublicationMetadata only
    Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings
    (Wiley, 2019) Demirkesen, Cuyan; N/A; N/A; N/A; N/A; N/A; Azaklı, Hülya; Akkaya, Ayşe Deniz; Aygün, Murat Serhat; Eraslan, Serpil; Kayserili, Hülya; PhD Student; Doctor; Teaching Faculty; Researcher; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); Graduate School of Health Sciences; School of Medicine; School of Medicine; School of Medicine; School of Medicine; N/A; 274199; 291692; N/A; 7945
    Terminal osseous dysplasia with pigmentary defects (TODPD; MIM #300244) is an extremely rare, X-linked dominant, in utero male-lethal disease, characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibromatosis of childhood. Delayed/abnormal ossification of bones of the hands and feet, joint contractures, and dysmorphic facial features may accompany. A single recurrent mutation (c.5217 G>A) of the FLNA gene which causes cryptic splicing was identified as the cause of the disease. We here present the first TODPD case from Turkey with full-blown phenotype who exhibit unique additional findings, hypopigmented patch on the lower extremity following Blaschko's lines and smooth muscle hamartoma of the scalp in review of all the previously reported TODPD cases.
  • Placeholder
    PublicationMetadata only
    Long-term results in low-fluence 1064-nm Q-Switched Nd:YAG laser for melasma: is it effective?
    (Wiley, 2016) Oram, Yasemin; N/A; N/A; Gökalp, Hilal; Akkaya, Ayşe Deniz; Doctor; Doctor; N/A; N/A; Koç University Hospital; Koç University Hospital; N/A; 274199
    Objective This study assessed the safety and clinical efficacy of a low-fluence 1064-nm Q-switched neodymium-doped: yttrium aluminum garnet (QS-Nd:YAG) laser in the treatment of patients with melasma. Methods The study evaluated 34 melasma patients treated at a single institution using a 1064-nm QS-Nd: YAG laser. The laser parameters were 6 mm spot size and 2.5 J/cm(2) fluence with multiple passes for 6-10 (median 8) sessions at 2-week intervals. Outcomes were evaluated using photography, the modified Melasma Area and Severity Index (mMASI) score, and patient satisfaction interviews after the last treatment and 1 year after the last treatment. Results After the low-fluence 1064-nm QS-Nd:YAG laser treatments, the mean mMASI score decreased from 6.7 +/- 3.3 to 3.2 +/- 1.6 (P < 0.01). After treatment completion, 20 of 34 patients (58.8%) rated themselves as having at least a 50% reduction in melasma severity. One year after the last treatment, recurrence was observed in 20 patients (58.8%) and the mean mMASI score increased from 3.2 +/- 1.6 to 5.8 +/- 1.9 in all patients. Conclusion The recurrence of low-fluence 1064-nm QS-Nd:YAG laser rates in melasma was high when the long-term results were considered. This result may be attributed to certain patient and treatment-related factors.
  • Placeholder
    PublicationMetadata only
    Excessive food elimination by pediatricians in food allergic infants and their mothers
    (Wiley, 2017) Buyuktiryaki, B.; Nacaroglu, T.; Dut, R.; Soyer, O. U.; Sahiner, U. M.; Erkocoglu, M.; Yilmaz, Arik E.; N/A; Melek, Hacer Efnan; Akkaya, Ayşe Deniz; Kızılkan, Nuray Uslu; Saçkesen, Cansın; Doctor; Doctor; Undergraduate Student; Faculty Member; Faculty Member; N/A; N/A; School of Medicine; School of Medicine; School of Medicine; Koç University Hospital; Koç University Hospital; N/A; Koç University Hospital; N/A; 178110; 274199; N/A; 221274; 182537
    N/A
  • Thumbnail Image
    PublicationOpen Access
    Expanding the genotypic spectrum of bathing suit ichthyosis
    (American Medical Association (AMA), 2017) Marukian, Nareh V.; Hu, Rong-Hua; Craiglow, Brittany G.; Milstone, Leonard M.; Zhou, Jing; Theos, Amy; Kaymakcalan, Hande; Uitto, Jouni J.; Vahidnezhad, Hassan; Youssefian, Leila; Bayliss, Susan J.; Paller, Amy S.; Boyden, Lynn M.; Choate, Keith A.; Akkaya, Ayşe Deniz; Doctor; Koç University Hospital
    Importance: Bathing suit ichthyosis (BSI) is a rare congenital disorder of keratinization characterized by restriction of scale to sites of relatively higher temperature such as the trunk, with cooler areas remaining unaffected. Fewer than 40 cases have been reported in the literature. Bathing suit ichthyosis is caused by recessive, temperature-sensitive mutations in the transglutaminase-1 gene (TGM1). Clear genotype-phenotype correlations have been difficult to establish because several of the same TGM1 mutations have been reported in BSI and other forms of congenital ichthyosis. We identify novel and recurrent mutations in 16 participants with BSI. Objective: To expand the genotypic spectrum of BSI, identifying novel TGM1 mutations in patients with BSI, and to use BSI genotypes to draw inferences about the temperature sensitivity of TGM1 mutations. Design, setting, and participants: A total of 16 participants with BSI from 13 kindreds were identified from 6 academic medical centers. A detailed clinical history was obtained from each participant, including phenotypic presentation at birth and disease course. Each participant underwent targeted sequencing of TGM1. Main outcomes and measures: Phenotypic and genotypic characteristics in these patients from birth onward. Results: Of the 16 participants, 7 were male, and 9 were female (mean age, 12.6 years; range, 1-39 years). We found 1 novel TGM1 indel mutation (Ile469_Cys471delinsMetLeu) and 8 TGM1 missense mutations that to our knowledge have not been previously reported in BSI: 5 have been previously described in non-temperature-sensitive forms of congenital ichthyosis (Arg143Cys, Gly218Ser, Gly278Arg, Arg286Gln, and Ser358Arg), and 3 (Tyr374Cys, Phe495Leu, and Ser772Arg) are novel mutations. Three probands were homozygous for Arg264Trp, Arg286Gln, or Arg315Leu, indicating that these mutations are temperature sensitive. Seven of 10 probands with a compound heterozygous TGM1 genotype had a mutation at either arginine 307 or 315, providing evidence that mutations at these sites are temperature sensitive and highlighting the importance of these residues in the pathogenesis of BSI. Conclusions and relevance: Our findings expand the genotypic spectrum of BSI and the understanding of temperature sensitivity of TGM1 mutations. Increased awareness of temperature-sensitive TGM1 genotypes should aid in genetic counseling and provide insights into the pathophysiology of TGM1 ichthyoses, transglutaminase-1 enzymatic activity, and potential therapeutic approaches.