Yazar "Onay H." seçeneğine göre listele
Listeleniyor 1 - 20 / 73
Sayfa Başına Sonuç
Sıralama seçenekleri
Öğe Acquired partial lipodystrophy is associated with increased risk for developing metabolic abnormalities(W.B. Saunders, 2015) Akinci B.; Koseoglu F.D.; Onay H.; Yavuz S.; Altay C.; Simsir I.Y.; Ozisik S.; Demir L.; Korkut M.; Yilmaz N.; Ozen S.; Akinci G.; Atik T.; Calan M.; Secil M.; Comlekci A.; Demir T.Objective Acquired partial lipodystrophy (APL) is a rare disorder characterized by progressive selective fat loss. In previous studies, metabolic abnormalities were reported to be relatively rare in APL, whilst they were quite common in other types of lipodystrophy syndromes. Methods In this nationwide cohort study, we evaluated 21 Turkish patients with APL who were enrolled in a prospective follow-up protocol. Subjects were investigated for metabolic abnormalities. Fat distribution was assessed by whole body MRI. Hepatic steatosis was evaluated by ultrasound, MRI and MR spectroscopy. Patients with diabetes underwent a mix meal stimulated C-peptide/insulin test to investigate pancreatic beta cell functions. Leptin and adiponectin levels were measured. Results Fifteen individuals (71.4%) had at least one metabolic abnormality. Six patients (28.6%) had diabetes, 12 (57.1%) hypertrigylceridemia, 10 (47.6%) low HDL cholesterol, and 11 (52.4%) hepatic steatosis. Steatohepatitis was further confirmed in 2 patients with liver biopsy. Anti-GAD was negative in all APL patients with diabetes. APL patients with diabetes had lower leptin and adiponectin levels compared to patients with type 2 diabetes and healthy controls. However, contrary to what we observed in patients with congenital generalized lipodystrophy (CGL), we did not detect consistently very low leptin levels in APL patients. The mix meal test suggested that APL patients with diabetes had a significant amount of functional pancreatic beta cells, and their diabetes was apparently associated with insulin resistance. Conclusions Our results show that APL is associated with increased risk for developing metabolic abnormalities. We suggest that close long-term follow-up is required to identify and manage metabolic abnormalities in APL. © 2015 Elsevier Inc.Öğe Analysis of the ß-glucocerebrosidase gene in Turkish Gaucher disease patients: Mutation profile and description of a novel mutant allele(2012) Karaca E.; Kalkan S.; Onay H.; Aykut A.; Coker M.; Özkınay F.Gaucher disease (GD) is the most frequent autosomal recessive lysosomal glycolipid storage disorder characterized by a decreased lysosomal activity of the enzyme ß-glucocerebrosidase (GBA; EC 3.2.1.45). The aim of this study was to evaluate the spectrum of the GBA gene mutations in Turkish GD patients and to explore genotype/phenotype associations. The molecular characterization of 32 unrelated Turkish GD patients with three types of the disease was defined. Mutation analysis identified 96.9 % of the GD alleles. The N370S mutation had the highest prevalence (50 % ) followed by the L444P (35.5 % ) alleles. We identified a novel L385R missense mutation that is associated with type 1 GD.Öğe Assessment of toll-like receptor-4 gene polymorphism on pyelonephritis and renal scar(2012) Akil I.; Özkınay F.; Onay H.; Canda E.; Gumuser G.; Kavukcu S.The aim of this study was to evaluate the effect of the TLR-4 gene TLR4 c.896AÖğe Association between IL4 (-590), ACE (I)/(D), CCR5 (?32), CTLA4 (+49) and ILl-RN (VNTR in intron 2) gene polymorphisms and vitiligo(2009) Sacide Pehlivan; Özkınay F.; Alper S.; Onay H.; Yuksel E.; Pehlivan M.; Özkınay, CihangirVitiligo is a common skin disorder characterized by patterned depig-mentation, because of a decrease of melanin pigment resulting from apparent melanocyte loss. The aim of this study was to investigate interleukin 4 (IL4), Angiotensin Converting Enzyme (ACE), C-C Che-mocine Receptor 5 (CCR5), Cytotoxic T Lymphocyte-associated Anti-gen Receptor 4 (CTLA4) and Interleukin 1 Receptor Antagonist (ILl-RN) gene polymorphisms in 48 Turkish vitiligo patients and 50 healthy controls. Polymorphisms for the genes ACE insertion(I)/dele- tion(D), CCR5 (A32), ILl-RN (VNTR in intron 2) were detected by PCR methods. IL4 (-590) and CTLA4 (+49) gene polymorphisms were typed using PCR-RFLP methods. No significant differences in either the genotype distribution or allele frequencies of IL4, CCR5 and ACE gene polymorphisms were observed. GG genotype and G allele in CTLA4 genes were found to be significantly higher in vitiligo patients compared to the controls. (0.002, 0.000). CTLA4 (AA) and ILl-RN (1/5) genotypes and 5 allele frequency in the ILl-RN gene were found to be significantly lower in vitiligo patients compared to healthy controls (p: 0.014, 0.015, 0.016, respectively). As a conclu-sion, CTLA4 and ILl-RN genes might play roles in the genetic etiology of vitiligo.Öğe Association of mannose binding lectin codon 54 polymorphism with predisposition to Henoch-Schönlein purpura in childhood(Blackwell Publishing, 2014) Durmaz B.; Aykut A.; Hursitoglu G.; Bak M.; Serdaroglu E.; Onay H.; Özkınay F.Aim: Immune and inflammatory response activation is a common feature of systemic vasculitis. There is a protein called mannose binding lectin (MBL) that was reported to play an important role in innate immunity. MBL polymorphisms in the MBL gene cause predisposition to infectious and autoimmune diseases. There is no study in the literature investigating the association between MBL polymorphisms and Henoch-Schönlein purpura (HSP) to date. Therefore, the aim of this study is to determine the presence of any association between MBL gene variants and HSP in a child population. Method: Codon 54 polymorphism in exon 1 of the MBL gene was investigated by polymerase chain reaction - restriction fragment length polymorphism method in 100 children diagnosed as having HSP and 100 age-matched healthy controls. Results: The mutant B allele frequency was not significantly higher in the patient group (16%) compared to the control group (14%). AB genotype was found to be 28% and 26% in the patient group and healthy control group, respectively. AA genotype was found in 70% of the children with HSP and 73% of the healthy control group. Conclusion: These results suggest that codon 54 polymorphism in the MBL gene may hardly play a role in susceptibility to HSP in children, the first time this has been reported in the literature. © 2014 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd.Öğe Associations of interleukin (IL)-1ß, IL-1 receptor antagonist, and IL-10 with dental caries(Nihon University, School of Dentistry, 2015) Cogulu D.; Onay H.; Ozdemir Y.; Aslan G.I.; Özkınay F.; Kutukculer N.; Eronat C.Streptococcus mutans is important in dental caries. Although the role of cytokines in the pathogenesis of dental caries is not clear, components of S. mutans were found to stimulate production of pro-inflammatory cytokines. We examined the associations of interleukin (IL)-1ß, IL-1 receptor antagonist (IL-1ra), and IL-10 with dental caries. Unstimulated whole saliva and blood samples were obtained from 108 children aged 6-12 years with high caries (decayed, missing, or filled teeth [dmft/DMFT] index >4, n = 37), moderate caries (dmft/DMFT = 1-4, n = 37), or caries-free (dmft/DMFT = 0, n = 34). S. mutans level was classified as low (<105colony-forming units [CFU]/mL) or high (?105CFU/mL). Saliva and serum concentrations of IL-1ß, IL-1ra, and IL-10 were determined by ELISA. IL-1ß, IL-1ra, and IL-10 gene polymorphisms were genotyped using PCR and restriction fragment length polymorphism analysis. The chi-square, Mann-Whitney U, one-way ANOVA, posthoc, Fisher’s exact, and t tests were used in statistical analysis. Dental caries was not correlated with salivary or serum concentrations of the studied cytokines. S. mutans level positively correlated with saliva IL-1ß concentration and inversely correlated with saliva IL-1ra concentration. There was no correlation of IL-1ß, IL-1ra, or IL-10 gene polymorphisms with dental caries. S. mutans is important in stimulating saliva IL-1ß and inhibiting IL-1ra. Future studies of associations between cytokines and dental caries should investigate additional cytokines and enroll a larger number of participants. © 2015, Journal of Oral Science. All rights reserved.Öğe Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes(S. Karger AG, 2022) Bolat H.; Sa?er S.G.; Türkyllmaz A.; Çebi A.H.; Akln Y.; Onay H.; Özklnay F.Introduction: Autosomal recessive primary microcephaly (MCPH) is a disorder characterized by congenital microcephaly and intellectual disability without extra-central nervous system malformation. MCPH is a disease with heterogeneity in genotype and phenotype. For this reason, it is important to determine the genetic causes and genotype-phenotype relationship in MCPH, which causes lifelong impairment. In this study, we aimed to evaluate the clinical, genetic, and brain imaging findings of cases diagnosed with MCPH. Methods: Electroencephalogram and brain magnetic resonance imaging were performed for all cases. We evaluated genetic results of the 39 families including cases with suspected MCPH diagnosis. Results: Genetic diagnosis related to MCPH was provided in 11/39 (28.2%) of these families including 13/41 cases (31.7%). Variants of the WDR62 gene were the most common (61.5%) cause, and variants of the ASPM gene were the second most common cause (38.5%). We have found 6 novel variants and 4 previously reported variants in ASPM and WDR62 genes. Main brain imaging findings in our cases were lissencephaly, polymicrogyria, schizencephaly, pachygyria, and cortical dysplasia. Genetic counseling in 2 families whose genetic diagnosis was determined prevented them from having another child with MCPH. Discussion/Conclusion: Detection and reporting of novel variants is an important step in eliminating this disorder by providing families with appropriate genetic counseling. © 2022Öğe Both granulocytic and non-granulocytic blood cells are affected in patients with severe congenital neutropenia and their non-neutropenic family members: An evaluation of morphology, function, and cell death [Ciddi konjenital nötropenisi olan hastalarda ve nötropenik olmayan ebeveynlerinde hem granülositik hem granülositik olmayan kan hücreleri etkilenir: Morfoloji, fonksiyon ve hücre ölümü yönünden bir değerlendirme](Turkish Society of Hematology, 2018) Olcay L.; Ünal Ş.; Onay H.; Erdemli E.; Öztürk A.; Billur D.; İkincioğulları A.Objective: To examine granulocytic and non-granulocytic cells in children with severe congenital neutropenia (SCN) and their non-neutropenic parents. Materials and Methods: Fifteen patients with SCN and 21 non-neutropenic parents were evaluated for a) CD95, CD95 ligand, annexin V, propidium iodide, cell cycle, and lymphocyte subsets by flow cytometry; b) rapid cell senescence (of leukocytes) by senescence-associated ?-galactosidase stain; c) aggregation tests by aggregometer; d) in vitro bleeding time by PFA-100 instrument; e) mepacrine-labeled dense granule number of thrombocytes by fluorescence microscope; and f) hematomorphology by light and electron microscope. HAX1, ELANE, G6PC3, CSF3R, and JAGN1 mutations associated with SCN were studied in patients and several parents. Results: Significant increase in apoptosis and secondary necrosis in monocytes, lymphocytes, and granulocytes of the patients and parents was detected, irrespective of the mutation type. CD95 and CD95 ligand results implied that apoptosis was non-CD95-mediated. Leukocytes of 25%, 12.5%, and 0% of patients, parents, and controls showed rapid cell senescence. The cell cycle analysis testable in four cases showed G1 arrest and apoptosis in lymphocytes of three. The patients had HAX1 (n=6), ELANE (n=2), G6PC3 (n=2), and unidentified (n=5) mutations. The CD3, CD4, and NK lymphocytes were below normal levels in 16.6%, 8.3%, and 36.4% of the patients and in 0%, 0%, and 15.4% of the parents (controls: 0%, 0%, 5.6%). The thrombocytes aggregated at low rates, dense granule number/ thrombocyte ratio was low, and in vitro bleeding time was prolonged in 37.5%-66.6% of patients and 33.3%-63.2% of parents (vs. 0% in controls). Under electron and/or light microscope, the neutrophils, monocytes, lymphocytes, and thrombocytes in the peripheral blood of both patients and parents were dysplastic and the bone marrow of patients revealed increased phagocytic activity, dysmegakaryopoiesis, and necrotic and apoptotic cells. Ultrastructurally, thrombocyte adhesion, aggregation, and release were inadequate. Conclusion: In cases of SCN, patients’ pluripotent hematopoietic stem cells and their non-neutropenic parents are both affected irrespective of the genetic defect. © 2018 by Turkish Society of Hematology.Öğe Both granulocytic and non-granulocytic blood cells are affected in patients with severe congenital neutropenia and their non-neutropenic family members: An evaluation of morphology, function, and cell death [Ciddi konjenital nötropenisi olan hastalarda ve nötropenik olmayan ebeveynlerinde hem granülositik hem granülositik olmayan kan hücreleri etkilenir: Morfoloji, fonksiyon ve hücre ölümü yönünden bir değerlendirme](Turkish Society of Hematology, 2018) Olcay L.; Ünal Ş.; Onay H.; Erdemli E.; Öztürk A.; Billur D.; Metin A.; Okur H.; Yıldırmak Y.; Büyükaşık Y.; İkincioğulları A.; Falay M.; Özet G.; Yetgin S.Objective: To examine granulocytic and non-granulocytic cells in children with severe congenital neutropenia (SCN) and their non-neutropenic parents. Materials and Methods: Fifteen patients with SCN and 21 non-neutropenic parents were evaluated for a) CD95, CD95 ligand, annexin V, propidium iodide, cell cycle, and lymphocyte subsets by flow cytometry; b) rapid cell senescence (of leukocytes) by senescence-associated ß-galactosidase stain; c) aggregation tests by aggregometer; d) in vitro bleeding time by PFA-100 instrument; e) mepacrine-labeled dense granule number of thrombocytes by fluorescence microscope; and f) hematomorphology by light and electron microscope. HAX1, ELANE, G6PC3, CSF3R, and JAGN1 mutations associated with SCN were studied in patients and several parents. Results: Significant increase in apoptosis and secondary necrosis in monocytes, lymphocytes, and granulocytes of the patients and parents was detected, irrespective of the mutation type. CD95 and CD95 ligand results implied that apoptosis was non-CD95-mediated. Leukocytes of 25%, 12.5%, and 0% of patients, parents, and controls showed rapid cell senescence. The cell cycle analysis testable in four cases showed G1 arrest and apoptosis in lymphocytes of three. The patients had HAX1 (n=6), ELANE (n=2), G6PC3 (n=2), and unidentified (n=5) mutations. The CD3, CD4, and NK lymphocytes were below normal levels in 16.6%, 8.3%, and 36.4% of the patients and in 0%, 0%, and 15.4% of the parents (controls: 0%, 0%, 5.6%). The thrombocytes aggregated at low rates, dense granule number/ thrombocyte ratio was low, and in vitro bleeding time was prolonged in 37.5%-66.6% of patients and 33.3%-63.2% of parents (vs. 0% in controls). Under electron and/or light microscope, the neutrophils, monocytes, lymphocytes, and thrombocytes in the peripheral blood of both patients and parents were dysplastic and the bone marrow of patients revealed increased phagocytic activity, dysmegakaryopoiesis, and necrotic and apoptotic cells. Ultrastructurally, thrombocyte adhesion, aggregation, and release were inadequate. Conclusion: In cases of SCN, patients’ pluripotent hematopoietic stem cells and their non-neutropenic parents are both affected irrespective of the genetic defect. © 2018 by Turkish Society of Hematology.Öğe A cardio-facio-cutaneous syndrome case with tight achilles tendons(2012) Hazan F.; Aykut A.; Hizarcioglu M.; Tavli V.; Onay H.; Özkınay F.Cardio-facio-cutaneous syndrome (CFCS) is a multiple congenital anomaly disorder characterized by craniofacial features, cardiac defects, ectodermal anomalies and neurocognitive delay. Clinical findings of patients with CFCS show similarities to those of patients with Costello Syndrome (CS). CFCS and CS are caused by mutations in genes encoding proteins of the RAS-MAPK signaling pathway. Musculoskeletal findings including tight Achilles tendons and contractures of elbows, shoulders or hips have been reported in CS patients. However, limited extension of joints were observed in some patients with CFCS. According to the literature, no tight Achilles tendons have been reported in CFCS patients so far. In this case report, we present a male CFCS patient with tight Achilles tendons with a de-novo heterozygote N581D mutation in the BRAF gene detected by DNA sequence analysis.Öğe A case diagnosed with biotinidase deficiency in newborn screening test [Yenidogan tarama testinde biotinidaz eksikligi saptanan bir olgu](Turkiye Klinikleri, 2014) Kavasoglu A.N.; Onay H.; Köse M.; Durmaz A.; Kalkan S.; Çoker M.; Özkınay F.Biotinidase deficiency is a hereditary disorder of biotin metabolism. The incidence of biotinidase deficiency is indicated as approximately 1/60 000. However, this disease is seen more frequently in Turkey. This enzyme allows the body to use and to recycle the B vitamin biotin. The main findings in biotinidase deficiency leads to nervous system and skin. Prompt diagnosis and early treatment prevents irreversible complications like hearing loss and optic atrophy. Identification of BTD gene mutations in individual patients is important to give genetic counseling and to browse other family members about this disease. In this study we present a non-symptomatic female patient with biotinidase deficiency who was diagnosed in the newborn screening. Biotinidase activity was determined 3% of the patient. BTD gene mutation analysis was performed and p.Q456H, c.1324delG (p.V442SfsX59) and p.D444H mutations were found. Mutations in the patient were assessed by parental mutation analysis. Copyright © 2014 by Türkiye Klinikleri.Öğe A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA) mutation in exon 1 (D47N)(Elsevier B.V., 2016) Kutbay N.O.; Yurekli B.S.; Onay H.; Altay C.T.; Atik T.; Hekimsoy Z.; Saygili F.; Akinci B.Background Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selective lack of subcutaneous fat which is associated with insulin resistant diabetes. The Dunnigan variety (FPL2) is caused by several missense mutations in the lamin A/C (LMNA) gene, most of which are typically located in exon 8 at the codon position 482. Case report Here, we report on a Turkish family with FPL2 which is caused by a novel heterozygous missense LMNA mutation in exon 1 (D47N, c.139G > A), in the rod domain of lamins A/C. Fat distribution and metabolic features of LMNA D47N mutation were similar to typical codon 482 mutation. Metabolic abnormalities were observed as a form of insulin resistant diabetes, hypertriglyceridemia, low HDL cholesterol and hepatic steatosis. There was no evidence for neuromuscular and cardiac involvement. Conclusion Although it is previously known that alterations in the rod domain of type A lamins are involved in cardiac and neuromuscular diseases, our current observation shows that exon 1 LMNA mutations may be associated with partial lipodystrophy without any cardiac and neurological abnormalities, at least at the time of the presentation. © 2015 European Federation of Internal Medicine.Öğe Cleidocranial dysplasia with new additional findings [2](2004) Cogulu O.; Munanoglu D.; Karaca E.; Onay H.; Özkınay F.[No abstract available]Öğe Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations(Elsevier Inc., 2021) Ozkinay F.; Emecen D.A.; Kose M.; Isik E.; Bozaci A.E.; Canda E.; Onay H.Aim: Mucopolysaccharidosis type III B (MPS IIIB) is an autosomal recessive lysosomal storage disease caused by mutations in the NAGLU gene which codes the lysosomal enzyme alpha-N-acetylglucosaminidase. The major symptoms of the disease are cognitive and neurological defects. In this study, the molecular spectrums of 13 MPS IIIB patients were evaluated. Material and methods: Thirteen MPS IIIB patients from 11 families were included in this study. All patients were both clinically and molecularly diagnosed. NAGLU gene sequencing was performed using a next generation sequencing platform (Illumina MiSeq). Demographic, clinical and laboratory findings of the patients were obtained via the hospital records. Results: Ten different mutations from the 13 MPS IIIB patients were identified. Eight of the 10 mutations were missense, one was splice site, and one large deletion was also observed. Two mutations c.509G>T (p.Gly170Val) and c.700C>G (p.Arg234Gly) have been defined for the first time in this study. Conclusion: Our study expanded the mutation spectrum of the NAGLU gene thereby contributing to the improved genetic counselling of MPS IIIB patients. Confirming the literature, missense mutations were also found to be the most common NAGLU mutations in our study. © 2021Öğe Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy(John Wiley and Sons Inc, 2022) Kalkan Uçar S.; Yazıcı H.; Canda E.; Er E.; Bulut F.D.; Eraslan C.; Onay H.Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive mitochondrial disorder characterized by cumulative and progressive gastrointestinal and neurological findings. This retrospective observational study, aimed to explore the time of presentation, diagnosis and clinical follow-up of 13 patients with a confirmed MNGIE disease of Mediterranean origin. The mean age of symptom onset was 7 years (6 months?21 years) and the average diagnosis age was 15.4 years ±8.4. Four of 13 patients (30%) died before 30 years at the mean age of 19.7 years ±6.8. Cachexia and gastrointestinal symptoms were observed in all patients (100%). The mean body mass index standard deviation score at diagnosis was 4.8 ± 2.8. At least three subocclusive episodes were presented in patients who died in last year of their life. The main neurological symptom found in most patients was peripheral neuropathy (92%). Ten patients (77%) had leukoencephalopathy and the remaining three patients without were under 10 years of age. The new homozygous “Mediterranean” TYMP mutation, p.P131L (c.392 C > T) was associated with an early presentation and poor prognosis in nine patients (69%) from five separates families. Based on the observations from this Mediterranean MNGIE cohort, we propose that the unexplained abdominal pain combined with cachexia is an indicator of MNGIE. High-platelet counts and nerve conduction studies may be supportive laboratory findings and the frequent subocclusive episodes could be a negative prognostic factor for mortality. Finally, the homozygous p.P131L (c.392 C > T) mutation could be associated with rapid progressive disease with poor prognosis. © 2022 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.Öğe Clinical variability in two sisters with keutel syndrome due to a homozygous mutation in MGP gene(Editions Medecine et Hygiene, 2015) Tüysüz B.; Çinar B.; Laçiner S.; Onay H.; Mittaz-Crettol L.Clinical variability in two sisters with Keutel syndrome due to a homozygous mutation in MGP gene: Keutel syndrome (KS) is an autosomal recessive disease characterised by abnormal cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenosis, hearing loss and midface retrusion. KS is caused by homozygous mutations in MGP, a gene encoding Matrix Gla protein which acts as a calcification inhibitor in extracellular matrix. We present two Turkish sisters (22 and 13 years old) who had abnormal cartilage calcification, brachytelephalangism, congenital heart defect and chronic asthmatic bronchitis. The patients were homozygous for c.62-2A>G (IVS1-2 A>G) mutation in MGP gene. Abnormal cartilage calcification, brachytelephalangism and midfacial retrusion are the hallmarks of KS. It was observed that the younger sister had striking cartilaginous calcifications, midfacial retrusion and severe brachytelephalangism while her older sister had mild costal cartilaginous calcifications and brachytelephalangism without any midfacial retrusion. Intrafamiliar clinical variability for KS has not been described previously.Öğe Öğe Detection of trisomy 21 in a fetus during the investigation for Tay-Sachs disease [2](2004) Alpman A.; Bora E.; Karaca E.; Cankaya T.; Onay H.; Cogulu O.; Gunduz C.; Kleijer W.J.; Özkınay F.[No abstract available]Öğe Determination of fetal Rhesus D status by maternal plasma DNA analysis(Walter de Gruyter GmbH, 2013) Aykut A.; Onay H.; Sagol S.; Gunduz C.; Özkınay F.; Cogulu O.In this study, we assessed the feasibility of fetal RhD genotyping by analysis of cell-free fetal DNA(cffDNA) extracted from plasma samples of Rhesus (Rh) D-negative pregnant women by using real-time polymerase chain reaction (PCR). Fetal genotyping was performed on 30 RhD-negative women between 9 and 39 weeks of gestation who were referred to us for invasive testing [amniocentesis/ chorionic villi sampling (CVS)]. The fetal RHD genotype was determined based on real-time PCR method. Exons 7 and 10 of the RHD and SRY genes were targeted. Among the pregnant women, 12 were carrying male and 17 were carrying female fetuses. Out of 29 pregnant women, 21 had RhD-positive and nine had RhD-negative fetuses. One sample )case 12, whose blood group was found to be AB Rh [+] (was excluded due to controversial results from repeated serological analyses. All prenatal results were in concordance with postnatal RhD status and fetal sex without false- positive or -negative results. Performing real-time PCR on cffDNA showed accurate, efficient and reliable results, allowing rapid and high throughput non invasive determination of fetal sex and RhD status in clinical samples.Öğe Determining residual adipose tissue characteristics with mri in patients with various subtypes of lipodystrophy(AVES İbrahim KARA, 2017) Altay C.; Seçil M.; Demir T.; Atik T.; Akıncı G.; Kutbay N.Ö.; Temeloğlu E.K.; Şimşir I.Y.; Özışık S.; Demir L.; Eren E.; Tuna E.B.; Aytaç H.; Onay H.; Akıncı B.PURPOSE We aimed to investigate residual adipose tissue with whole-body magnetic resonance imaging to differentiate between subtypes of lipodystrophy. METHODS A total of 32 patients (12 with congenital generalized lipodystrophy [CGL], 1 with acquired generalized lipodystrophy [AGL], 12 with familial partial lipodystrophy [FPLD], and 7 with acquired partial lipodystrophy [APL]) were included. RESULTS Despite generalized loss of metabolically active adipose tissue, patients with CGL1 caused by AGPAT2 mutations had a significant amount of residual adipose tissue in the scalp, earlobes, retro-orbital region, and palms and soles. No residual adipose tissue was noted particularly in the head and neck, palms and soles in CGL2 caused by BSCL2 mutations. CGL4 caused by mutations in the PTRF gene was characterized with well-preserved retro-orbital and bone marrow fat in the absence of any visible residual adipose tissue in other areas. No residual adipose tissue was observed in AGL. Despite loss of subcutaneous fat, periarticular adipose tissue was preserved in the lower limbs of patients with FPLD. Retro-orbital adipose tissue was surprisingly preserved in APL, although they lacked head and neck fat. CONCLUSION Lipodystrophies are a heterogeneous group of disorders characterized by generalized or partial loss of adipose tissue, which can be congenital or acquired. Our results suggest that residual adipose tissue characteristics can help distinguish different subtypes of lipodystrophy. © Turkish Society of Radiology 2017.
