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Öğe Apoptosis-associated Speck-like Protein Containing a CARD (ASC), TNF Like Factor 1a(TL-1a) and B Cell Chemoattractant Chemokine Ligand 13(CXCL-13) Expression Profiles in Familial Mediterranean Fever (FMF) Patients(Duzce Univ, Fac Medicine, 2023) Kurt, Fatih; Eroz, Recep; Kocabay, KenanObjective: This study was carried out to compare the expression levels of ASC(Apoptosis Associated Speck Like Protein Containing a CARD), TL-1a(TNF Like Factor 1a) and CXCL 13(B Cell Chemoattractant Chemokine Ligand 13) genes in FMF patients According to Tell-Hashomer Criteria and Genetic analysis result in Duzce University Research and Application Hospital with healthy controls and to determine their clinical significance in FMF.Method: 36 patients (20 girls, 16 boys) and 12 healthy controls (7 girls, 5 boys) were included in the study. RNA was isolated from the peripheral blood of each individual and expression levels of ASC, TL-1a and CXCL 13 genes were determined. Routine biochemical parameters were also determined.Results: CXCL 13 and TL-1a gene expression levels were significantly increased in patients with FMF, the expression level of the ASC gene was found to be increased in FMF patients, but not significantly.Conclusion: The expression levels of these genes may be related to the pathogenesis of the disease and these genes could be used as a marker in the early diagnosis of the disease.Öğe Argyrophilic nucleolar organizing regions in patients with Xeroderma Pigmentosum Group E(Wiley, 2021) Karagun, Ebru; Eroz, Recep[Abstract Not Available]Öğe Bialelic pathogenic (c.830g>a(p.r277q)) variant disrupting the GNE gene function and causes Nonaka myopathy phenotype(Pleiades Publishing Inc, 2023) Dogan, Mustafa; Akbulut, Ekrem; Gezdirici, Alper; Eroz, Recep; Bozdogan, Sevcan TugNonaka myopathy (MIM 605820) is caused by homozygous pathogenic variants in the GNE gene. It is a recessively inherited early adult-onset myopathy that usually preserves the quadriceps and presents with bilateral foot drop, usually caused by anterior tibialis weakness. In patients with Nonaka myopathy, serum creatine kinases are slightly elevated, muscle weakness progresses slowly, and ambulation loss develops after 15-20 yr. The current study aims to raise awareness of Nonaka myopathy that occurs as a rare phenotype due to pathogenic variants in GNE gene. Detailed family histories and clinical data were recorded. Whole exome sequencing was performed and co-segregation analysis of the family were done by Sanger sequencing. Also the homology model of the mutant protein was created with the ProMod3 algorithm. We identified a bialelic pathogenic variant (c.830G>A) in GNE gene, which explain the patients' clinical status. We present the main findings of two siblings with Nonaka myopathy together with detailed clinical and genetic profiles of the patients together with a three-dimensional mutant GNE protein model. We think that the clinical characteristics and the effect of the (c.830G>A) variant will facilitate our understanding of GNE gene in Nonaka myopathy pathogenesis.Öğe Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene(Taylor & Francis Inc, 2021) Dogan, Mustafa; Eroz, Recep; Ozturk, EmrahPurpose: The current study aims to raise awareness of Boucher - Neuhauser syndrome (BNHS) that occurs as a rare phenotype due to biallelic pathogenic variants in the PNPLA6 gene. Methods: Detailed family histories and clinical data were recorded. Whole exome sequencing was performed and co-segregation analysis of the family was done by sanger sequencing. Also, review of 28 molecularly confirmed patients with BNHS from the literature was evaluated. Results: We identified a missense homozygous variant (c.3524 C > G (p.Ser1175Cys)) in the PNPLA6 gene, which explains the phenotype of the patient and neurologic, ophthalmologic, endocrine, and genetic evaluations established a diagnosis of BNHS. Symptoms, ethnicity, clinical and genetic findings of 28 molecularly confirmed patients with BNHS from the literature were also presented. Conclusion: We present the main findings of a Turkish family with BNHS together with detailed clinical and genetic profiles of patients diagnosed as BNHS that have been molecularly confirmed in the literature so far.Öğe Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder(Springer, 2021) Dogan, Mustafa; Terali, Kerem; Eroz, Recep; Demirci, Huseyin; Kocabay, KenanElongator is a multi-subunit protein complex bearing six different protein subunits, Elp1 to -6, that are highly conserved among eukaryotes. Elp2 is the second major subunit of Elongator and, together with Elp1 and Elp3, form the catalytic core of this essential complex. Pathogenic variants that affect the structure and function of the Elongator complex may cause neurodevelopmental disorders. Here, we report on a new family with three children affected with a severe form of intellectual disability along with spastic tetraparesis, choreoathetosis, and self injury. Molecular genetic analyses reveal a homozygous missense variant in the ELP2 gene (NM_018255.4 (ELP2): c.1385G > A (p.Arg462Gln)), while in silico studies suggest a loss of electrostatic interactions that may contribute to the overall stability of the encoded protein. We also include a comparison of the patients with ELP2-related neurodevelopmental disorder to those previously reported in the literature. Apart from being affected with intellectual disability, we have extremely limited clinical knowledge about patients harboring ELP2 variants. Besides providing support to the causal role of p.Arg462Gln in ELP2-related neurodevelopmental disorder, we add self-injurious behavior to the clinical phenotypic repertoire of the disease.Öğe Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity(Springer, 2021) Dogan, Mustafa; Eroz, Recep; Terali, Kerem; Gezdirici, Alper; Bolu, SemihMucolipidosis III gamma (ML III gamma) is a slowly progressive disorder that affects multiple parts of the body such as the skeleton, joints, and connective tissue structures. It is caused by pathogenic variants in the GNPTG gene that provides instructions for producing the gamma subunit of GlcNAc-1-phosphotransferase. In this study we aim to characterize clinical findings and biological insights on two novel GNPTG variants causing ML III gamma phenotypes with varying severity. We report on two siblings with ML III gamma bearing the previously undescribed c.477C > G (p.Y159*) nonsense variant in a homozygous state as well as a patient with ML III gamma bearing the novel c.110 + 19_111-17del variant in a homozygous state. These variants were revealed by whole-exome sequencing and Sanger sequencing, respectively. Their parents, who are heterozygotes for the same mutation, are healthy. The clinical and radiographic presentation of ML III gamma in our patients who had c.477C > G (p.Y159*) variant is consistent with a relatively severe form of the disease, which is further supported by a working three-dimensional model of the GlcNAc-1-phosphotransferase gamma subunit. On the other hand, it is seen that our patient who carries the c.110 + 19_111-17del variant has a milder phenotype. Our findings help broaden the spectrum of GNPTG variants causing ML III gamma and offer structural and mechanistic insights into loss of GlcNAc-1-phosphotransferase gamma subunit function.Öğe Combination of Novel c.3484G > T/p.Glu162Ter Variant in ABCB11 and c.208G > A/p.Asp70Asn Variant in ATP8B1 Are Associated with Severe Symptoms in Progressive Family Intrahepatic Cholestasis(Georg Thieme Verlag Kg, 2020) Bekdas, Mervan; Can, Guray; Eroz, Recep; Duzcu, Selma ErdoganProgressive family intrahepatic cholestasis (PFIC) is an autosomal recessive disease that causes chronic cholestasis. It is associated with pathogenic variants in genes that encode proteins involved in bile secretion to canaliculus from hepatocytes. In this study, we present a 16-year-old boy who presented with severe pruritus and cholestatic jaundice. All possible infectious etiologies were negative. A liver biopsy was consistent with intrahepatic cholestasis and portal fibrosis. DNA was isolated from a peripheral blood sample, and whole exome sequencing was performed. A novel c.3484G > T/p.Glu162Ter variant in theABCB11gene and a c.208G> A/p.Asp70Asn variant in theATP8B1gene were detected. Despite traditional treatment, the patient's recurrent severe symptoms did not improve. The patient was referred for a liver transplantation. This novel c.3484G > T/p.Glu162Ter variant is associated with a severe and recurrent presentation, and the two compound variants could explain the severity of PFIC.Öğe Congenital nephrotic syndrome secondary to pertussis(Soc Espanola Nefrologia Dr Rafael Matesanz, 2020) Bekdas, Mervan; Eroz, Recep; Cihan, Busra[Abstract Not Available]Öğe Do all Familial Mediterranean Fever (FMF) patients with recurrent chest pain have cardiac problems?(Kuwait Medical Assoc, 2021) Damar, Ibrahim Halil; Eroz, RecepObjectives: Familial Mediterranean Fever (FMF) is a hereditary autosomal recessive autoinflammatory genetic disorder. One of the important complications of FMF is cardiac disorder. We aimed to research the evaluation of cardiological parameters in FMF cases who had chest pain and MEFV gene variant. Design: Experimental study Setting: This study was conducted at Department of Cardiology and Medical Genetics of Duzce University, Turkey. Subject: Totally, thirty-four individuals with recurrent sharp retrosternal chest pain that exacerbate with deep inspiration and clinically diagnosed as FMF and at least one variant on MEFV gene were included in the study. Interventions: Physical and cardiological evaluation were performed and MEFV gene sequenced for each case. Main outcome measures: To determine if the chest pain is caused by cardiac problems or derived from other problems such as tendonitis, myalgia, etc. in cases with FMF Result: Seven cases (20.5%) had previous history of pericarditis. Two of these cases had small pericardial effusion and one had pericardial thickness. All three were adults. Also, one case (2.9%) had aortic regurgitation, eight cases (23.5%) had mitral regurgitation, thirteen cases (38.2%) had tricuspid regurgitation and one case (2.9%) had pulmonary regurgitation. Valvular disease is seen in over half of the cases. Conclusions: We concluded that cases with FMF who had chest pain and at least one MEFV gene variant have increased risk for cardiac problems. These cases should be routinely followed up life long for cardiac problems.Öğe The evaluation of both the expression and serum protein levels of Caspase-3 gene in patients with different degrees of SARS-CoV2 infection(Wiley, 2021) Gulhan, Pinar Yildiz; Eroz, Recep; Ataoglu, Ozlem; Ince, Nevin; Davran, Fatih; Ozturk, Cihadiye Elif; Balbay, Oner AbidinTo evaluate the effects of Caspase-3 (CASP3) gene expression and serum levels on preventing severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. A total of 41 individuals (male: 21; female: 20) with SARS-CoV-2 infection were included in the current study. Hemograms were examined from patient blood samples, and CASP3 gene expression levels were detected. Also, human CASP3 levels were determined from the serum samples of patients. The mean age of patients was 56.220 +/- 18.937 years. Significant differences were detected among all groups for CASP3 2-Delta Delta Ct (p = 0.014) and CASP3 concentration (p = 0.024). The relationship between CASP3 2-Delta Delta Ct levels and hemoglobin (p = 0.023), between CASP3 2-Delta Delta Ct levels and C-reactive protein (CRP) (p = 0.001), between CASP3 2-Delta Delta Ct levels and ferritin (p = 0.003), between CASP3 2-Delta Delta Ctlevels and lactate dehydrogenase (p = 0.001), and between CASP3 2-Delta Delta Ct levels and SpO(2) (p = 0.006) were statistically significant. Also, the relationship between CASP3 concentration levels and SpO(2) was statistically significant (p < 0.046). The CASP3 gene and/or its products have an important function to prevent injury caused by SARS-CoV-2 infection. They play crucial roles in maintaining cellular homeostasis and viability. Perhaps CASP3 levels may provide information about the severity of the disease.Öğe The Evaluation of the Genetic Variation Types of the Uridine Diphosphate Glucuronosyl Transferase 1A1 Gene by Next-Generation Sequencing and Their Effects on Bilirubin Levels in Obese Children(Mary Ann Liebert, Inc, 2024) Aslantas, Merve; Kilicaslan, Onder; Eroz, Recep; Kocabay, KenanBackground and Objectives: Obesity is a major nutritional problem with an increasing prevalence among children and adolescents. The uridine-diphosphate-glucuronosyl-transferase1A1 (UGT1A1) gene encodes the UDP-glucuronosyl transferase enzyme, converting the toxic form of bilirubin to a soluble, nontoxic form. There are yet to be studies on the evaluation of the UGT1A1 variant types detected by next-generation sequencing (NGS) and their effects on bilirubin levels in nonsyndromic obese children. Methods: Forty-five children with body mass index (BMI) >95 percentile (p) constituted the obesity group and fourteen healthy children with BMI <85p constituted the control group. Anthropometric, clinical features, and biochemical parameters were evaluated. Furthermore, the UGT1A1 gene was sequenced by NGS. Results: The obese patients had lower total, direct, and indirect bilirubin levels (p = 0.422, 0.026, and 0.568, respectively). In addition, obese patients had more genetic variations in the UGT1A1 gene compared with the control group (62.2% and 50%, respectively). We found that children with variations had higher total direct and indirect bilirubin levels compared with those without variation (p = 0.016, 0.028, and 0.015, respectively). Children diagnosed with obesity in the first two years of their life had fewer genetic variations and lower total bilirubin levels (p = 0.000 and 0.013, respectively). Conclusions: It is assumed that bilirubin can be protective against many chronic diseases. Although bilirubin levels are found to be lower in obese children compared with the control group, some variations in the UGT1A1 gene may be supported by raising bilirubin. We suggest that high bilirubin levels caused by those UGT1A1 variations may be protective against obesity and its many negative effects.Öğe Genotype-Phenotype Characteristics of Turkish Children With Glucokinase Mutations Associated Maturity-Onset Diabetes of the Young(Springer India, 2020) Bolu, Semih; Eroz, Recep; Dogan, Mustafa; Arslanoglu, Ilknur; Dundar, IsmailObjective To investigate phenotype-genotype correlations in Turkish children with glucokinase gene mutations leading to Maturity-onset diabetes in young (GCK-MODY). Methods Retrospective analysis of 40 patients (16 girls) aged under 18 with GCK-MODY. Results Mean (SD) serum fasting blood glucose level was 6.79 (0.59) mmol/L and the mean (SD) HbA1c level at diagnosis was 6.3% (0.5). Sixteen different variations were detected in the GCK genes of the 40 cases; 33 missense mutations, 6 deletions, and one nonsense mutation. The birthweight of infants with deletion mutation was significantly lower than that of infants with other mutations [2460 (353.66) g vs 2944.11 (502.08) g]. Conclusion GCK-MODY patients with deletion mutation inherited from mothers had lower birthweight and higher fasting blood glucose than those with other inherited mutations but similar HbA1c values.Öğe An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants(Springernature, 2021) Gezdirici, Alper; Terali, Kerem; Gulec, Elif Yilmaz; Bornaun, Helen; Dogan, Mustafa; Eroz, RecepMarfan syndrome (MFS) is an autosomal dominant genetic condition that mainly affects connective tissue in many parts of the body. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. The diagnosis of MFS relies on the revised Ghent criteria, outlined by international expert opinion to facilitate accurate recognition of this syndrome as well as to improve patient management and counseling. However, it may not always be possible to make a definitive diagnosis according to these criteria in each patient and thus molecular confirmation is necessary in subjects with suspected MFS. This debilitating, if not fatal, disorder is caused by mutations in FBN1, which encodes a major constitutive element of extracellular microfibrils. Here, we present a detailed clinical and molecular analysis of 76 Turkish patients with definitive or suspected MFS diagnosed at our center between 2014 and 2019. We were able to identify a total of 51 different FBN1 variants in our cohort, 31 of which have previously been reported in the relevant scientific literature. The remaining 20 variants have not been documented to date. In one patient, we detected a large deletion including the entire FBN1 gene using the array CGH approach. Currently, there are very few studies on the genotype-phenotype correlation of patients with MFS, and no clear genotype-phenotype maps for MFS have been constructed so far, except for some cases. We believe that our findings will make a rich and peculiar contribution to the elusive genotype-phenotype relationship in MFS, especially in this large and populous ethnic group.Öğe May Argyrophilic Nucleolar Organizer Regions be the New Marker of a Hypoxic Response in Non ST Elevation Myocardial Infarction?(Duzce Univ, Fac Medicine, 2022) Damar, Ibrahim Halil; Eroz, RecepObjective: Non-ST elevation myocardial infarction (NSTEMI) is a type of acute coronary syndrome and its' incidence is similarly high to ST-elevation myocardial infarction. Nucleolar organizing regions (NORs) are located of the secondary structure of acrocentric chromosome and composed of proteins and ribosomal DNA (rDNA) some of which are argyrophilic. We aimed to investigate the change of AgNOR proteins, which increase in hypoxia, in patients with NSTEMI. Methods: A total of 125 participants, 63 patients with NSTEMI and 62 volunteers without any acute coronary syndrome were included in the study. Echocardiography was performed and both mean AgNOR Number and total AgNOR area/total nuclear area (TAA/TNA) were detected for each individuals. Results: The mean AgNOR number and TAA/TNA ratio were significantly higher in the NSTEMI group than control (p<0.001). Also, statistically significant relations between TAA/TNA and all of creatinine, hemoglobin, WBC(mu l/ml), monocyte, neutrophil, neutrophil /lymphocyte ratio, monocyte/lymphocyte ratio were detected (p<0.05 for all). Also, statistically significant relations between mean AgNOR number and all of fasting blood sugar, HDL, WBC(mu l/ml), monocyte, neutrophil, EF were detected (p<0.001). Conclusions: Both AgNOR protein amounts may be used as a marker for NSTEMI. It may also contribute to the prediction of the outcomes by providing some prognostic information in NSTEMI.Öğe Novel mutation identified in the DDB2 gene in patients with xeroderma pigmentosum group-E(Wiley, 2020) Karagun, Ebru; Eroz, Recep; Gamsizkan, Mehmet; Baysak, Sevim; Eyup, Yavuz; Ozcan, YunusBackground Xeroderma pigmentosum (XP) is a rare photosensitive syndrome, which is divided into eight complementation groups (XP-A to XP-G and XPV) and characterized by skin cancers diagnosed at early age. A family of seven members (age range between 5 and 47 years) with carriers of the novel nonsense mutation that causes XP-E type were included in the current study. Methods DNA was isolated from peripheral blood samples of the proband, and cancer predisposition genes were sequenced with next-generation sequencing. The demographic features and the laboratory, clinical, and histopathological findings of patients were evaluated. Results In the proband, squamous cell carcinoma was first diagnosed in the right-eye cornea at the age of 13 years and then in the left-eye cornea at the age of 15 years. Later, the patient was diagnosed with basosquamous cell carcinoma on the dorsum of the nose at the age of 18 years. After genetic analysis, a novel nonsense c.1063C>T(p.Arg355Ter) pathogenic variation that causes XP-E type was detected as homozygous in the DDB2 gene of the proband and her siblings, 11 and 5 years of age, and as heterozygous in her parents and a 22-year-old brother. Conclusion Because of the occurrence of early termination codon, truncated nonfunctional proteins or proteins with deleterious loss or gain-of-function activities are synthesized in nonsense mutation. Thus, to avoid the development of pathological lesions, it is important that such patients with nonsense mutation stay away from agents that might cause DNA damage and develop an appropriate lifestyle according to this condition.Öğe A novel pathogenic variant in the 3MODIFIER LETTER PRIME end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype?(Springer, 2021) Turay, Sevim; Eroz, Recep; Basak, A. NazliChildhood-onset neurodegeneration with cerebellar atrophy (CONDCA) is a recently described form of the large group of infantile hereditary lower motor neuron diseases (Teoh et al. 2017), resulting from biallelic damaging variants in the AGTPBP1 gene, first described by Shashi et al. in EMBO J 37(23):e100540, 2018. AGTPBP-related neurodegeneration is a severe neurodevelopmental disorder that progresses with global developmental delay and intellectual disability, often accompanied with peripheral nerve damage and lower motor degeneration and a fatal course in the early years of life. The encoded protein is ATP/GTP-Binding Protein1, also known as cytosolic carboxypeptidase 1 (CCP1) or nervous system nuclear protein induced by axotomy (NNA1). Here we report a consanguineous family with four offspring, two of whom are affected. The index patient is a 21-month-old male with global developmental delay and hypotonia. The proband's 17-year-old sister, diagnosed with cerebral palsy, had severe hypotonia accompanied by motor and cognitive retardation. WES analysis revealed a novel homozygous c.3293G > A variant in the AGTPBP1 gene with high pathogenicity scores. Targeted Sanger sequencing confirmed the variant in both affected children and in heterozygous form in the parents. The affected siblings present with hypotonia and motor and cognitive retardation, in line with the studies previously reported. However, in our patients, no signs of cerebellar atrophy in cranial MRI were present, so the acronym CONDCA is not applicable; lower motor neuron findings were also absent. The matching and distinguishing aspects of our patients will add to the present literature and expand our understanding of this rare genetic neurodegenerative disease of early childhood.Öğe A Novel Variant in Paired Box 3 Gene-related with Waardenburg Syndrome Type-1 in an Afghan Family(Coll Physicians & Surgeons Pakistan, 2022) Dogan, Mustafa; Eroz, RecepWaardenburg Syndrome (WS) is a congenital auditory-pigmentary syndrome. We, herein, present a case of a 1.5 year girl presenting with bilateral hearing impairment. Detailed examinations and molecular analyses of the proband and other family members were performed. A novel missense, heterozygous variant (c.253A>C (p.Lys85Gln)) was detected in the paired box 3 (PAX3) gene. For interpretation and classification of the variant, the American College of Medical Genetics and Genomics (ACMG) guideline was used. No previous report of this variant was found in the literature and we determined the variant according to the guide published in 2015 as likely pathogenic. We think that the clinical and genetic characterisation of the current family will contribute to knowledge for a better understanding of the genetic background of the Afghan patients with WS.Öğe Radiosensitivity in a newborn with microcephalia: A case report of Nijmegen breakage syndrome(Wiley, 2024) Genc, Gunes Cakmak; Yilmaz, Busra; Celik, Sevim Karakas; Aydemir, Cumhur; Eroz, Recep; Dursun, AhmetAim: Nijmegen breakage syndrome (NBS) is an autosomal recessive DNA repair disorder which is characterized by immunodeficiency and increased risk of lymphoproliferative malignancy. Case: We observed an increase in the rate of chromosomal rearrangements in the cultured cells following an incidental radiograph for craniosynostosis in a newborn who was followed up due to microcephaly. We identified a homozygous deletion of c.657_661delACAAA/p.Lys219fs (rs587776650) in the NBN gene through whole exome sequencing. Conclusion: It is crucial to thoroughly examine the clinical features of newborns with microcephaly and consider chromosomal instability syndromes just like Nijmegen breakage syndrome. Not overlooking radiosensitivity, which is a characteristic feature of this syndrome, is a vital condition to the patient's survival time.Öğe A rare cause of delayed puberty and primary amenorrhea: 17 alpha-hydroxylase enzyme deficiency(Springer, 2021) Bestas, Asli; Bolu, Semih; Unal, Edip; Aktar Karakaya, Amine; Eroz, Recep; Tekin, Mehmet; Haspolat, Yusuf KenanAim 17 alpha-hydroxylase enzyme deficiency is a rare form of congenital adrenal hyperplasia (CAH) and is caused by mutations in the CYP17A1 gene. The main clinical findings are delayed puberty and primary amenorrhea in girls, and disorders of sex development in boys. It can also cause hypertension and hypokalemia in both genders. In this study, we aimed to present the clinical, laboratory and genetic results of 13 patients from eight different families who were diagnosed with complete 17 alpha-hydroxylase enzyme deficiency. Methods The age, symptoms, anthropometric measurements, blood pressure, Tanner stages, and hormonal and chromosome analysis results at the time of admission were recorded from the medical records of the patients. Whole gene next-generation sequencing of CYP17A1 gene was performed to detect mutations. Multiplex ligation dependent probe amplification (MLPA) method were used to detect deletions in the seven patients who had no point mutation were detected in the CYP17A1 gene. Results The average age of the patients at the time of admission was 14.8 (range: 12.9-16.6) years. Also at this time, all patients were in adolescence and were raised as females. The karyotypes of eight patients were 46,XY, and of five patients were 46,XX. Ten patients presented with delayed puberty and primary amenorrhea, one patient with delayed puberty and hypertension, and two patients with hypertension and/or hypokalemia. Hypertension and hypokalemia were detected in nine and seven patients, respectively. Conclusions P450c17 enzyme deficiency should be considered in patients presenting with delayed puberty or primary amenorrhea in the adolescence period and diagnosed with hypergonadotropic hypogonadism, if hypertension and hypokalemia accompany. Early diagnosis prevents the occurrence of important health problems such as hypertension, psychological problems, and gender identity disorders, which affect the majority of these patients.Öğe The Role of Macrophages in Atherosclerosis: An Overview(Erciyes Univ Sch Medicine, 2021) Damar, Ibrahim Halil; Eroz, RecepKnowlege of the mechanism of atherosclerosis in chronic and inflammatory diseases is important in health care management. According to the World Health Organization, approximately 17.9 million people die from atherosclerosis annually. Macrophages played a major role in the immune response and pathophysiology of atherosclerosis. This review presents the role of macrophage in the development of atherosclerosis.
