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Öğe 8q22.3 q24.23 duplication in a patient with oral frenulum and normal intellectual development(BIOMED CENTRAL LTD, 2017) Kurtulgan, Hande Kucuk; Yildirim, Malik Ejder; Baser, Burak; Sezgin, Ilhan…Öğe Analysis of PKD1 and PKD2 Gene Mutations for Autosomal Dominant Polycystic Kidney Disease Cases in Turkish Population(Aves, 2020) Sezgin, Ilhan; Kayatas, Mansur; Kurtulgan, Hande Kucuk; Yildirim, Malik Ejder; Baser, Burak; Timucin, Meryem; Bagci, GokhanObjective: Autosomal dominant polycystic kidney disease (ADPKD), one of the most common causes of end-stage renal disease, is a monogenic, multisystemic disease characterized by renal cysts and various extrarenal findings. ADPKD is caused by mutations in the polycystic kidney disease 1 (PKD1) (16p13.3) and PKD2 (4q22.1) genes. The genetic analysis of the PKD1 gene is complex because of its large size, the presence of 6 pseudogenes, and allelic heterogeneity. In this study, we aimed to identify the mutations of the PKD1 gene in patients with ADPKD in Sivas, Turkey. Materials and Methods: A total of 27 patients who were diagnosed with ADPKD were included in this study. Their mean age and body mass indices were determined. The gene variants were analyzed by targeted next-generation sequencing method. Results: In 17 (64.3%) of the 27 patients, the variants were detected in PKD1 and/or PKD2 genes. There were 13 patients (48.1%) with PKD1 gene variants and 5 (18.5%) with PKD2 gene variants. Of the 17 patients, 1 had both PKD1 and PKD2 gene variants. We observed that 16 patients with ADPKD (66.6%) had hypertension, and liver cysts were detected in 9 (33.3%) patients. Conclusion: PKD1 gene mutations were found in a significant number of patients with ADPKD, and hypertension is a frequently observed finding in them. In some patients, liver cysts may accompany the clinical picture of ADPKD. Our findings provide important insights for the genetic counseling of these patients.Öğe A case of weill-marchesani syndrome with a novel mutation and vitamin d deficiency(DERMAN MEDICAL PUBL, 2018) Yildirim, Malik Ejder; Vural, Ayse; Kurtulgan, Hande Kucuk; Kilicgun, Hasan; Baser, BurakWeill-Marchesani syndrome is an inherited connective tissue disorder. It is characterized by various ocular abnormalities and some skeletal problems. It is rarely seen in the world, but the clinical complications are significant and may require some interventions such as eye surgery, physical therapy or orthopedic procedures. Here we report on an eleven year old female with glaucoma, ectopia lentis, microspherophakia, brachydactyly and vitamin D deficiency from Sivas, Turkey. She was suffering from Weill-Marchesani syndrome with ADAMTS10 mutation.Öğe Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in Which a Different De Novo Actg2 Mutation was Detected: A Case Report(TAYLOR & FRANCIS INC, 2018) Korgali, Elif Unver; Yavuz, Amine; Simsek, Cemile Ece Caglar; Guney, Cengiz; Kurtulgan, Hande Kucuk; Baser, Burak; Atalar, Mehmet Haydar; Ozer, Hatice; Egilmez, Hatice ReyhanIntroduction: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is characterized by bladder distension without urinary tract obstruction, decreased or absent intestinal peristalsis and microcolon. Although the definitive cause remains unknown, changes in the ACTG2 gene are thought to be responsible for the intestinal and bladder hypoperistalsis. Case report. This female newborn with MMIHS had a c.532C > A /p.Arg178Ser heterozygous de novo mutation detected in the ACTG2 gene. Normal immature ganglion cells, normal calretinin punctate positivity, maintence of smooth muscle actin immunoreactivity, and decreased numbers of interstitial cells of Cajal(ICCs) were detected. Conclusion: This previously unreported c.532C >A /p.Arg178Ser heterozygous de novo mutation in the ACTG2 gene may lead to a severe form of MMIHS.Öğe Ocular and Genetic Characteristics Observed in Two Cases of Fish-Eye Disease(LIPPINCOTT WILLIAMS & WILKINS, 2019) Ustaoglu, Melih; Solmaz, Nilgun; Baser, Burak; Kurtulgan, Hande Kucuk; Onder, FeyzaPurpose: To present ocular findings and anterior segment-optical coherence tomography (AS-OCT) imaging findings of 2 cases of fish-eye disease (FED) involving 2 novel genetic variants of the lecithin-cholesterol acyltransferase (LCAT) gene. Methods: A case report. Results: A 46-year-old woman and 63-year-old man presented with blurred vision, burning sensation, and whitening of both eyes for 2 and 3 years, respectively. Ophthalmologic examination revealed slightly decreased visual acuity, yellowish-white diffuse corneal opacities causing corneal clouding, and dry eye disease bilaterally in both patients. AS-OCT imaging demonstrated diffuse hyperreflective corneal opacities predominantly located in the anterior stroma. On systemic examination, both patients had very low plasma high-density lipoprotein cholesterol levels. However, they did not have any systemic associations with familial LCAT deficiency or Tangier disease, which are differential diagnoses for corneal clouding and low plasma high-density lipoprotein cholesterol. Both patients were diagnosed with FED based on clinical findings. Furthermore, genetic analysis, in which novel variants of c.86A>G (p.Asn29Ser) in the first exon and c.1052A>G (p.Tyr351Cys) in the sixth exon on the LCAT gene were detected, confirmed the diagnosis. Conclusions: Although it is a rare genetic disorder, FED should be considered in the differential diagnosis of corneal clouding. Corneal lipid deposits, visible on AS-OCT are suggestive of FED, and genetic analysis can be used to confirm the clinical diagnosis. Finally, there may be a relationship between dry eye disease and LCAT enzyme deficiency disorders, which should be investigated in further studies.Öğe Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia(K Faisal Spec Hosp Res Centre, 2019) Yildirim, Malik Ejder; Kurtulgan, Hande Kucuk; Ozdemir, Ozturk; Kilicgun, Hasan; Aydemir, Didem S.; Baser, Burak; Sezgin, IlhanBACKGROUND: Familial Mediterranean fever (FMF), an autosomal recessive, autoinflammatory disease that is common in Arabs, Jews, Armenians and Turks, is caused by mutations in the MEFV gene, which encodes a protein called pyrin. The disease is characterised by recurrent fever, peritonitis, pleuritis, abdominal pain and arthralgia. OBJECTIVE: Determine the distributions of MEFV mutations and their relationship with clinical manifestations. DESIGN: Retrospective, descriptive. SETTING: Turkish community. SUBJECTS AND METHODS: The study included patients with complaints related to FMF who were admitted to the research hospital of Cumhuriyet University between 2005 and 2017. FMF was diagnosed by physical examination using the Tel-Hashomer criteria. MEFV mutations were detected by reverse hybridization strip assay and pyrosequencing. MAIN OUTCOME MEASURE: The prevalence of specific MEFV gene mutations in a large cohort of Middle Anatolia. SAMPLE SIZE: 10033 patients admitted, 1223 with confirmed mutations. RESULTS: Of 1684 patients diagnosed by Tel-Hashomer criteria, mutation screening confirmed that 1223 patients (72.6%) had FMF. Male/female ratio of the FMF patients was 1.3:1. One or more FMF mutations were found in 4497 patients (44.8%). 3262 had heterozygous or carrier mutations, 821 had compound heterozygous mutation, 381 had homozygous mutations, and 21 had triple mutations. Sixty-six percent had a family history of the disease and 13.7% of the patients had parental consanguinity. Main symptoms found in the patients were abdominal pain (85.2%), fever (84%), chest pain (30.2%), arthralgia (28.6%), rash or erysipelas-like erythema (8.2%). The most common mutation in this population was M694V (39%) of 5753 alleles. CONCLUSION: M694V was the most frequent mutation in our population (Middle Anatolia, Turkey) and cause severe forms of the disease. Patients with El 480, V726A and R761 H mutations may have milder FMF symptoms. There was a high rate of carriers in our study group.Öğe The Association of MCP-1 Level and MCP-1 -2518 A/G and CCR2 190 G/A Gene Polymorphisms with COPD and Pulmonary Hypertension(Gazi Univ, Fac Med, 2021) Yildirim, Malik Ejder; Berk, Serdar; Kurtulgan, Hande Kucuk; Tekin, Gulacan; Tekin, Yusuf Kenan; Baser, Burak; Bagci, GokhanObjective: Chronic obstructive pulmonary disease (COPD) is a chronic inflammatory disease characterized by obstructed airflow in the lungs. Pulmonary hypertension (PH) is a common complication of COPD and it is associated with pulmonary vascular remodelling. Monocyte chemoattractant protein-1 (MCP-1/CCL2) is one of the key chemokines associated with migration of monocytes and macrophages. Both MCP-1 and its receptor CCR2 have been declared to be involved in various diseases. We aimed to research a possible association of MCP-1 level, MCP-1-2518 A/G and CCR2 190 A/G polymorphisms with COPD and pulmonary hypertension in this study. Material and methods: Eighty patients and eighty controls were included in the study. Serum MCP-1 levels were measured by ELISA method. Restriction fragment length polymorphism (RFLP) procedure was used to detect the genotypes of patients and control group. Results: MCP-1 levels were found to be significantly higher in COPD patients than in healthy controls (P=0.001) and patients with COPD + PH had higher serum MCP-1 levels than COPD patients (P=0.005). No association was found between MCP-1/CCR2 gene polymorphisms and patient groups (COPD and COPD + PH). Conclusion: MCP-1 level seems to be associated with both COPD and pulmonary hypertension. Increased MCP-1 expression may most likely to be involved in the pathogenesis of these diseases.Öğe The type and prevalence of chromosomal abnormalities in couples with recurrent first trimester abortions: A Turkish retrospective study(Elsevier Masson, Corp Off, 2019) Yildirim, Malik Ejder; Karakus, Savas; Kurtulgan, Hande Kucuk; Baser, Burak; Sezgin, IlhanObjective: Chromosomal abnormalities are more common in the first trimester abortions. We aimed to investigate the types and prevalence of chromosomal abnormalities in couples with recurrent first trimester miscarriages in Sivas, Turkey. Materials and medhods: Three hundred couples (600 individuals) who had a story of recurrent abortion were included in the study. Chromosome analysis was performed after the preparation of lymphocyte culture with the standard method. Karyotype analyses were supported by FISH and aCGH studies. Results: Total 26 chromosome abnormalities (8.7%) were found in the couples (19 females and 7 males). Fifteen cases (57.7%) were structural anomalies and eleven cases (42.3%) were numerical chromosomal aberrations. We detected 5 balanced translocations (33.3%), 4 Robertsonian translocations (26.7%), 3 inversions (20%), 2 duplications (13.3%) and one deletion (6.7%) among the structural anomalies. Mosaic monosomy X in five cases (45.4%), the combination of mosaic monosomy-trisomy X in three cases (27.3%), the combination of mosaic monosomy-trisomy and tetrasomy X in two cases (18.2%) and mosaic pentasomy X in only one individual (9.1%) were encountered as numerical chromosome aberrations. 19 cases had heterochromatic changes or other chromosomal variations (satellite increments and inv9). Conclusion: Chromosome analysis in couples with recurrent miscarriage is necessary for possible preimplantation genetic diagnosis. As well as numerical and structural chromosome abnormalities, some chromosomal variations (heterochromatin and satellite increments etc.) may also contribute to recurrent miscarriages. Numerical chromosomal abnormalities are often associated with sex chromosomes and usually seen in females. (C) 2019 Elsevier Masson SAS. All rights reserved.
