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Öğe Cerebral creatine deficiency syndrome with a novel missense variant in SLC6A8 gene(Wiley, 2023) Turan, Betul; Goktas, Emine; Sonmez, F. Mujgan; Aydin, Halil Ibrahim; Aydogdu, Demet; Zamani, Ayse Gul; Yildirim, Mahmut SelmanCerebral creatine deficiency syndromes (CCDS) are three metabolic diseases characterized by loss of function in three proteins (GATM, GAMT, and SLC6A8) that required in creatine (Cr) synthesis pathway and transport. In this study, we aimed to identify the causal variant in a male who was 12-year-old manifesting intellectual disability (ID), seizures, expressive dysphasia and autism-like behavior. Urinary Cr metabolite measurements and MRI-spectroscopy (MRS) findings were consistent with CCDS. Molecular analysis revealed de novo hemizygous SLC6A8 (NM_005629.4): c.1400 T > G (p.Met467Arg) variant. The variant was not found in ClinVar, (the date of access: April 23th, 2023) and population databases (ExAC, gnomAD, 1000 Genomes, ESP 6500, Turkish Variome, GenomeAsia, Iranome, GME Variome, TOPMed Bravo and 4.7KJPN), it alters the physicochemical properties of the amino acid, the region is moderately conserved across species and in-silico prediction tools (REVEL, CADD, SIFT, PolyPhen2, Mutation Taster, MetaLR, MCAP, MetaRNN and MutPred) unanimously emphasize pathogenicity. Based on this evidence, the variant was interpreted as likely pathogenic according to the ACMG criteria (PS2, PM2,PP3, and PP4-S). This report may further elucidate the nature and phenotypic consequences of SLC6A8 variants.Öğe The Effect of RAS/BRAF Mutation Status on Prognosis and Relapse Pattern in Early Stage Colon Cancers(Springer, 2023) Kunt, Nazli; Araz, Murat; Yildirim, Mahmut Selman; Findik, Siddika; Kocak, Mehmet Zahid; Eryilmaz, Melek Karakurt; Artac, MehmetPurposeIt is known that the RAS and BRAF mutations are predictive for targeted therapies in treating metastatic colon cancer and negatively affect the prognosis of the disease. However, there are limited studies in early-stage colon cancer about the relationship of this mutational condition with the prognosis and relapse pattern of the disease. In this study, we evaluated the effects of mutational status on the clinical pattern of recurrence and survival in early-stage colon cancer in addition to classical risk factors.MethodsPatients with early-stage colon cancer at the first time of diagnosis and developing recurrence or metastasis on following up were included in this study. Patients were divided into two groups according to the at the time of relapse RAS/BRAF mutation status: mutant or non-mutant/wild types. Then, mutation analysis was performed again from the early-stage tissue of the patients if available. The relationship between early-stage mutation status and progression-free survival (PFS), overall survival (OS), and relapse pattern was analyzed.ResultsThe number of patients with mutant and non-mutations in the early stage was 39 and 40, respectively. Mutant and non-mutant patients with stage 3 disease were similar (69% and 70%, respectively). OS (47.27 months vs. 67.53 months; p = 0.02) and PFS (25.12 vs. 38.13 months; p = 0.049) were statistically significantly lower in mutant patients, respectively. Most patients had distant metastases on both sides at recurrence (61.5% vs. 62.5%, respectively). There was no significant difference between mutant and non-mutant patients regarding distant metastasis and local recurrence rates (p = 0.657). A discordance of 11.4% between early-stage and late-stage tissue mutation status.ConclusionThe presence of mutation in early-stage colon cancer is associated with shorter OS and PFS. The mutational status did not have a significant effect on the recurrence pattern. Because of the discordance of early-stage and late-stage mutational status, it is recommended to perform mutation analysis from tissue at relapse.Öğe Evaluation of immunological abnormalities in patients with rare syndromes(Termedia Publishing House Ltd, 2022) Gul, Yahya; Kapakli, Hasan; Aytekin, Selma Erol; Guner, Sukru Nail; Keles, Sevgi; Zamani, Ayse Gul; Yildirim, Mahmut SelmanIntroduction: Recurrent infections are important problems in syndromic patients. This study aimed to evaluate immunological abnormalities in patients who presented with recurrent infections and were diagnosed with rare syndromes. Material and methods: This retrospective analysis included 14 patients with complaints of recurrent infections, all of whom were diagnosed with a rare syndrome. Results: The study group consisted of patients with Aicardi syndrome, Brugada syndrome, Phelan-McDermid syndrome, trichothiodystrophy, LEOPARD syndrome, Prader-Willi syndrome, Seckel syndrome, trisomy 18 (Edwards' syndrome), Wiedemann-Steiner syndrome, West syndrome, Williams syndrome, 47,XYY syndrome, 16p13 deletion syndrome, and 13q1.3 deletion syndrome. Seven patients (50%) were girls and seven (50%) were boys (mean age, 56.7 +/- 32.9 months; median [range] age: 45.5 [27-153] months). There were high rates of consanguinity (50%), cesarean section delivery (71%), and hospitalization in the intensive care unit (78.5%). No patients had a family history of immunodeficiency. On admission, all patients exhibited humoral and/or cellular immune system abnormalities. During the follow-up period, all T-cell abnormalities were improved after immunoglobulin replacement therapy (IGRT), while B-cell abnormalities persisted. These findings suggested that the patients predominantly had antibody deficiencies associated with mild T- cell abnormalities because of recurrent infections. The rates of infections and hospitalizations were significantly reduced after IGRT (p < 0.001); the rate of intensive care unit admission also significantly decreased (from 78.5% to 21.4%). Two of the three oxygen-dependent patients exhibited improvement therein. IGRT was discontinued in two patients with significant clinical improvement during follow-up. Conclusions: An immunological evaluation should be considered in pediatric patients with rare syndromes and recurrent infections. IGRT may help to improve the prognoses of these patients.Öğe GAPO syndrome: Four new patients with congenital glaucoma and myelinated retinal nerve fiber layer(Wiley, 2013) Bozkurt, Banu; Yildirim, Mahmut Selman; Okka, Mehmet; Bitirgen, GulfidanThis article reports on the ophthalmological features of four Turkish children with GAPO syndrome, a very rare autosomal recessive condition characterized by growth retardation (G), alopecia (A), pseudoanodontia (P) (failure of tooth eruption), and optic atrophy (O). The children were from two unrelated families born to consanguineous parents. They had the characteristic facial appearance of alopecia, rarefaction of eyebrows and eyelashes, frontal bossing, high forehead, midfacial hypoplasia, hypertelorism, and thickened eyelids and lips. Two children had severe end-stage glaucoma in both eyes and unilateral corneal opacity, whereas other two children had myelinated retinal nerve fiber layer; one with bilateral optic atrophy and the other one with persistent pupillary membrane in the left eye. (c) 2013 Wiley Periodicals, Inc.Öğe Inspection of Endothelial Nitric Oxide Synthase Gene Polymorphism in Patients With Henoch Schonlein Purpura(Turkish League Against Rheumatism, 2014) Somuncu, Makbule Nihan; Yildirim, Mahmut Selman; Zamani, Aysegul; Peru, HarunObjectives: This study aims to investigate the effect of Glu298Asp polymorphism, which is observed at endothelial nitric oxide synthase isoform particularly, having a significant impact on endothelial functions of nitric oxide synthase gene and on vascular system in patients with Henoch Schonlein purpura (HSP). Patients and methods: Ninety-five patients who were diagnosed with HSP and 93 healthy controls without any previous vascular disease, hypertension and other cardiovascular diseases were included in this study. The patient group was compared with the controls for Glu298Asp genotype and allele frequencies. The patients were classified according to the clinical complications and were compared with controls and also each other for allele and genotype frequencies. Real-time polymerase chain reaction and LightCycler (R) 2.0 system were used. Results: There was no statistically significant difference in the genotype frequencies between the HSP patients and healthy controls. No significant differences in Glu298Asp gene polymorphism among the patient groups were observed. However, polymorphism had an significant effect on patients with all involvements statistically (P-TT=0.001, P-GG=0.000). Conclusion: We conclude that Glu298Asp polymorphism has no effect on the development of HSP vasculitis; however, it may have an impact on the clinical progress of the existing disease.Öğe Interchromosomal effect: Report of a father and son, bearing different translocations of the same chromosome, and a review of the current literature(Wiley, 2021) Yildirim, Mahmut Selman; Arslan, Ahmet Burak; Zamani, Ayse GulInterchromosomal effect is a controversial phenomenon postulating that during gametogenesis of translocation carriers, aside from the unbalanced segregation of chromosomes involved in the translocation, other, structurally normal chromosomes might also be affected and segregated abnormally. Here, we present a balanced reciprocal translocation carrier t(15;20)(q11;p13), and his son, bearing a different translocation of chromosome 15, t(15;Y)(q11;q12). To further elucidate the so-far-controversial interchromosomal effect phenomenon, published original articles and case reports about interchromosomal effect were reviewed. The father was a carrier of t(15;20)(q11;p13). His wife's karyotype was normal. During a pregnancy occurred without any preceding procedure, amniocentesis was recommended to the family and performed. Result of the amniocentesis revealed a different translocation of chromosome 15; t(15;Y)(q11;q12). To our knowledge, this is the first report of two generations within a family, bearing different translocations of a chromosome. On top of all previous studies investigating ICE, our case adds an important finding, showing not only the rate of aneuploidies of structurally normal chromosomes, but also the rate of this 'alternating translocations' might be increased in translocation carriers, and this could be an important clue about interchromosomal effects.Öğe NAT2 Gene Polymorphisms in Turkish Patients with Psoriasis Vulgaris(Hindawi Ltd, 2018) Dursun, Recep; Dursun, Hatice Gul; Zamani, Ayse Gul; Yildirim, Mahmut Selman; Cinar, ElknurPsoriasis is a common, chronic, and autoimmune skin disease. Factors that play a role in etiopathogenesis of psoriasis include internal factors such as genetic susceptibility and immunological factors and external factors such as stress, infection, trauma, drug, and environmental compounds. N-acetyltransferase 2 ( NAT2) is a xenobiotic enzyme that is involved in the metabolism of drugs, environmental toxins, and carcinogens. In this study, we aimed to demonstrate whether the variations in the NAT2 gene lead to a predisposition to psoriasis by affecting the enzyme's ability to metabolize drugs and environmental components or not. Three polymorphisms (rs1799929, rs1799930, and rs1799931) in NAT2 gene were genotyped and compared by real-time PCR method in 260 psoriasis vulgaris patients and 200 healthy controls. There was no difference in the genotype distributions and allele frequencies of polymorphisms between psoriasis vulgaris patients and controls. When the effects of polymorphisms on the clinical features of the disease, such as onset age and severity, are assessed, it has been found that rs1799930 and rs1799929 are, respectively, associated with early onset age and severity of the disease. In conclusion, rs1799929, rs1799930, and rs1799931 polymorphisms of the NAT-2 gene do not appear to be a risk factor for the development of psoriasis. Conversely, they may have an effect on either more severe or early onset cases of the disease.Öğe A new case with a rare nonrandom chromosomal abnormality der(1;15)(q10;q10) associated with trisomy 9 in essential thrombocythemia(Springer, 2013) Acar, Aynur; Bilgin, Aynur Ugur; Zamani, Ayse Gul; Tuncez, Ebru; Yildirim, Mahmut Selman[Abstract Not Availabe]Öğe Novel findings, mini-review and dysmorphological characterization of 16p13.11 microduplication syndrome(Wiley, 2022) Arslan, Ahmet Burak; Zamani, Ayse Gul; Yildirim, Mahmut SelmanThe short arm of chromosome 16 and especially the region 16p13.11 is a chromosome region where many structural variants, especially deletions and duplications, can be observed. Although deletions of this region are clinically well defined, duplications are rare, and so far, there is no established clinical consensus in regard with its clinical picture, and especially the dysmorphic perspective of the disease is far from being clear. A 5-year-and-2-month-old patient who presented with epilepsy, autism and late speech onset complaints was evaluated in our genetics department. On physical examination, unilateral preauricular skin tag and upslanting palpebral fissures were noted. Microarray analysis was performed and reported as ([hg19]: 16p13.11 (14.897.804-16.730.375) x3). The literature review revealed only a few reports about the syndrome, but some dysmorphological findings appear to recur in different reports, which enables a possible characterization. Dysmorphic findings were discussed.Öğe A Novel Pathogenic Variant of the CFTR Gene in a Patient with Cystic Fibrosis Phenotype-c.4096A > T(Georg Thieme Verlag Kg, 2020) Arslan, Ahmet Burak; Zamani, Ayse Gul; Pekcan, Sevgi; Yildirim, Mahmut SelmanCystic fibrosis is a chronic multisystemic disease originating from functional alterations in CFTR (cystic fibrosis transmembrane conductance regulator) protein. To date, more than 300 pathogenic variants have been described in the literature. However, the diagnosis of CF, which was thought to become easier after the CFTR gene was identified, became more complicated due to the enormous amount of variations. In this study, we present a patient whose clinical findings were consistent with cystic fibrosis (CF) and showed a homozygous missense change that is not previously reported in the CFTR gene as pathogenic. In the next-generation sequencing analysis, homozygous c.4096A > T single-nucleotide exchange (I1366F [p.Ile1366Phe], missense) was shown in both alleles of the patient' CFTR gene. According to our database analysis, this variant has not yet been previously reported (VarSome, ClinVar, MutationTaster, Ensembl, dbSNP, PubMed). We do consider the change as pathogenic since the patient's findings were compatible with CF and the data analysis was in favor of pathogenicity. The most recent consensus report published in 2017 emphasized the importance of CFTR gene analysis, and this study emphasizes the difficulties of associating CFTR gene variations with a clinical picture and constitutes a new data on the genotype-phenotype correlation of CFTR variants. Also, considering the frequency of CF (according to World Health Organization data, every 1 out of 2,000-3,000 infants is born with CF in European Union countries and every 1 out of 3,500 in the United States) as well as the increasing rate of molecular studies performed on CF patients worldwide, reporting novel variation has an additional value.Öğe OCULAR FINDINGS IN 22Q11.2 DELETION SYNDROME(Springer/Plenum Publishers, 2014) Gokturk, Bahar; Bozkurt, Banu; Yildirim, Mahmut Selman; Reisli, Ismail[Abstract Not Availabe]Öğe Ocular Findings in Children With 22q11.2 Deletion Syndrome(Slack Inc, 2016) Gokturk, Bahar; Topcu-Yilmaz, Pinar; Bozkurt, Banu; Yildirim, Mahmut Selman; Guner, Sukru Nail; Sayar, Esra Hazar; Reisli, IsmailPurpose: To identify the ocular features of children diagnosed as having 22q11.2 deletion syndrome in a Turkish population, which is the most common microdeletion syndrome with a wide range of facial and ocular abnormalities. Methods: Sixteen children aged between 4 months and 18 years with a microdeletion in chromosome 22q11.2 underwent a detailed ophthalmological examination including uncorrected and best corrected visual acuity testing, stereoscopic vision examination, biomicroscopic and indirect fundus examination, and ocular motility testing. Results: All patients had at least one ocular abnormality. The major abnormalities were eyelid abnormalities (eye hooding, narrow palpebral fissure, telecanthus, hypertelorism, sparse and thin eyebrows and eyelashes, blepharitis, and distichiasis), posterior embryotoxon, and tortuous retinal vessels in at least half of the patients. Other ophthalmological disorders were refractive errors, iris remnants, and strabismus. Conclusions: The chromosome 22q11.2 deletion syndrome is associated with a wide range of ocular disorders, which necessitates a comprehensive eye examination for appropriate treatment and follow-up. Ocular findings sometimes can provide a clue to the diagnosis of 22q11.2 deletion.Öğe A rare case in literature: Isochromosome Xq in Klinefelter syndrome(Wiley, 2019) Simsek, Levent; Zamani, Ayse Gul; Taskapu, Hakan Hakki; Yildirim, Mahmut SelmanBackground: Klinefelter syndrome(KS), affecting 1 in 500-1,000 newborn males, is the most common sex chromosome aneuploidy among males with primary hypogonadism. Isochromosome Xq on the other hand is a rare variant of Klinefelter syndrome, accounting approximately 0.3% of all KS and associated with normal height and androgenisation compared to classical KS. Here, we present a case of isochromosome Xq variant of KS with similar clinical and cytogenetic findings with the few cases reported before. Materials and Methods: A 25-year-old male patient referred to our clinic with complaint of infertility. He is the son of a consanguineous couple who are first cousins and there was no family history of reproductive difficulty. In physical examination synophrys, prominent ear and small testicles noted. The patient's spermiogram showed azoospermia and scrotal USG revealed testicular atrophy. Results: Karyotype analysis using G-banding resulted as 47, X, i(X)(q10), Y, and STR analysis showed no deletion in AZF and SRY loci of interest. Conclusion: Although several isochromosome Xq variant of KS cases can be found in literature, it is our duty to emphasise the importance of karyotyping for patients with reproductive difficulty who may not have all features of classical Klinefelter syndrome.Öğe A Shwachman-Diamond Syndrome patient with AML and a del(10p) clone in bone marrow(Springer, 2013) Zamani, Ayse Gul; Tokgoz, Huseyin; Tuncez, Ebru; Caliskan, Umran; Acar, Aynur; Yildirim, Mahmut Selman[Abstract Not Availabe]Öğe A Special Chromosome Imbalance Jumping translocation of 1q in Burkitt Lymphoma(Gazi Univ, Fac Med, 2022) Turan, Betul; Goktas, Emine; Zamani, Ayse Gul; Tokgoz, Huseyin; Yildirim, Mahmut SelmanChromosome 1q gain that confers clonal expansion advantage to tumor cells has been reported in many solid tissue and hematological cancers, in many different forms; sometimes as a derivative chromosome, as isochromosome, or less frequently, due to an imbalance created by a jumping translocation. Although it is known that chromosome 1q gain provide the advantage of clonal expansion to the tumor cells and is relatively common in Burkitt lymphoma/leukemia, its detection in the form of jumping translocation is extraordinarily rare and results of JT containing 1q are controversial. Bone marrow cytogenetic examination performed on a case diagnosed with stage 4 Burkitt lymphoma/leukemia resulted in 46,XY,dup(1)(q21q42),t(8;14)(q24;q32)[5]/46,XY,der(6)t(1;6)(q21;q27),t(8;14)(q 24;q32)[4]/46,XY,t(8;14)(q24;q32), der(11)t(1;11)(q21;q23 )[2]/46,XY[3]. We present the clinical features of the case that was found to have 1q gain in the jumping translocation form to contribute to the literature.Öğe A Special Chromosome Imbalance Jumping translocation of 1q in Burkitt Lymphoma(Gazi Univ, Fac Med, 2022) Turan, Betul; Goktas, Emine; Zamani, Ayse Gul; Tokgoz, Huseyin; Yildirim, Mahmut SelmanChromosome 1q gain that confers clonal expansion advantage to tumor cells has been reported in many solid tissue and hematological cancers, in many different forms; sometimes as a derivative chromosome, as isochromosome, or less frequently, due to an imbalance created by a jumping translocation. Although it is known that chromosome 1q gain provide the advantage of clonal expansion to the tumor cells and is relatively common in Burkitt lymphoma/leukemia, its detection in the form of jumping translocation is extraordinarily rare and results of JT containing 1q are controversial. Bone marrow cytogenetic examination performed on a case diagnosed with stage 4 Burkitt lymphoma/leukemia resulted in 46,XY,dup(1)(q21q42),t(8;14)(q24;q32)[5]/46,XY,der(6)t(1;6)(q21;q27),t(8;14)(q 24;q32)[4]/46,XY,t(8;14)(q24;q32), der(11)t(1;11)(q21;q23 )[2]/46,XY[3]. We present the clinical features of the case that was found to have 1q gain in the jumping translocation form to contribute to the literature.Öğe A Turkish Family with Loeys-dietz Syndrome and a Report of a Homozygous Patient with SMAD3 Pathogenic Variation(Galenos Yayincilik, 2022) Altindas, Betul Okur; Zamani, Ayse Gul; Oflaz, Mehmet Burhan; Gunes, Muhammed; Yildirim, Mahmut SelmanLoeys-Dietz syndrome (LDS) is a rare autosomal dominant connective tissue disorder with multisystemic involvement caused by pathogenic genetic variations in the transforming growth factor-beta pathway. Here, we report a homozygous case with LDS. A newborn male patient who had congenital diaphragmatic hernia, aortic dilatation and talipes equinovarus was referred to our medical genetics polyclinic. After clinical evaluation, next generation sequencing analysis showed a homozygous c.859C>T pathogenic missense variation [R287W (p.Arg287Trp)] in the SMAD3 gene. It was confirmed that the parents harbor the variant heterozygously. Due to the autosomal dominant inheritance pattern, rarely seen biallelic individuals are expected to have severe clinical conditions. Since there was only one previous report of an individual harboring a homozygous SMAD3 variant in the literature; this case was presented to further enhance our understanding of LDS.Öğe An Unusual Diagnostic Journey Through MLPA: From Spinal Muscular Atrophy to a Severe Case of Prader-Willi Syndrome(Erciyes Univ Sch Medicine, 2023) Goktas, Emine; Altindas, Betul Okur; Tarim, Hulya; Kayhan, Gulsum; Zamani, Ayse Gul; Yildirim, Mahmut SelmanBackground: Prader-Willi Syndrome (PWS) is a multisystemic disorder characterized by dysmorphic facies, hypotonia, developmental delay, cognitive impairment, hypogonadism, and obesity. It is caused by the absence of expression of paternally derived genes on chromosome 15. Here, we report the diagnostic journey of a case with severe neonatal hypotonia.Case Report: A neonatal patient was referred for the prediagnosis of spinal muscular atrophy (SMA). During the SMA Multiplex Ligation-dependent Probe Amplification (MLPA) analysis, a diminished signal of a reference probe on the 15q11.2 was revealed. Later, it was confirmed that she had a deletion confined to 15q11.2-q13.1, with a methylation pattern compatible with PWS.Conclusion: Since hypotonia might be the only finding in newborns with PWS, this case was presented to emphasize the importance of a comprehensive approach to such patients.Öğe An Unusual Diagnostic Journey Through MLPA: From Spinal Muscular Atrophy to a Severe Case of Prader-Willi Syndrome(Erciyes Univ Sch Medicine, 2023) Goktas, Emine; Altindas, Betul Okur; Tarim, Hulya; Kayhan, Gulsum; Zamani, Ayse Gul; Yildirim, Mahmut SelmanBackground: Prader-Willi Syndrome (PWS) is a multisystemic disorder characterized by dysmorphic facies, hypotonia, developmental delay, cognitive impairment, hypogonadism, and obesity. It is caused by the absence of expression of paternally derived genes on chromosome 15. Here, we report the diagnostic journey of a case with severe neonatal hypotonia.Case Report: A neonatal patient was referred for the prediagnosis of spinal muscular atrophy (SMA). During the SMA Multiplex Ligation-dependent Probe Amplification (MLPA) analysis, a diminished signal of a reference probe on the 15q11.2 was revealed. Later, it was confirmed that she had a deletion confined to 15q11.2-q13.1, with a methylation pattern compatible with PWS.Conclusion: Since hypotonia might be the only finding in newborns with PWS, this case was presented to emphasize the importance of a comprehensive approach to such patients.Öğe Variants of genes related to cardiovascular disease in patients with pulmonary thromboembolism(European Respiratory Soc Journals Ltd, 2018) Zamani, Ayse Gul; Zamani, Adil; Korkmaz, Celalettin; Yosunkaya, Sebnem; Yildirim, Mahmut Selman[Abstract Not Availabe]
