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Öğe Autoantibody Positivity in Children with Chronic Diarrhea(2020) Tuhan, Hale; Aslan, Aslı; Ecevit, Çiğdem Ömür; Azarsız, Elif; Karaca, Neslihan Edeer; Çetin, Funda; Aksu, GüzideAim: We aimed to determine the frequency of autoantibody antinuclear (ANA), peripheral anti-neutrophil cytoplasmic antibody (p-ANCA), antisaccharomyces cerevisiae antibody (ASCA), anti-pancreatic exocrine gland antibody (PAb), goblet cell antibody (GAb) positivities in children with the complaint of chronic diarrhea and inflammatory bowel disease (IBD). We also purposed to explore the role of these autoantibodies in the differential diagnosis of IBD. Materials and Methods: In our study, serum samples of 51 patients with the complaint of chronic diarrhea and 35 healthy controls were analyzed. Clinical and laboratory data at the time of serum sampling were collected and a differential diagnosis was made as the results of performed tests were recorded. For all patients, ANA, p-ANCA, ASCA, GAb, PAb positivities were evaluated by indirect immunofluorescence. The chronic diarrhea group was divided into two groups, namely, the IBD group and non-IBD group. Results: In the chronic diarrhea group, 11 (21.6%) patients had ANA, 3 (5.9%) had p-ANCA, 1 (2%) had PAb, 1 (2%) had Gab and 1 (2%) had ASCA positivity. From the 35 cases of the control group, 8 (22.9%) had ANA, 7 (20%) had ASCA positivity. In the control group, ASCA was found to be high (p=0.007). Six cases were diagnosed as IBD; 1 (16.7%) had ANA, 1 (16.7%) had p-ANCA, 1 (2%) had Gab and 1 (2%) had ASCA positivity. ASCA and GAb positivities were significantly more frequent in the IBD group (p=0.006, p=0.006, respectively). Conclusion: ASCA was determined to be significantly higher in the control group. High positivity in the control group showed that the percentage of nonspecific positivity may be high for this test. ASCA and GAb of those patients with a diagnosis of IBD were found significantly higher. The serologic tests which depend on p-ANCA, ASCA, PAb, GAb can be supportive of diagnoses and differential diagnoses of IBD. Autoantibodies in IBD may be used as a supportive diagnostic tool in selected cases, rather than as the diagnosis of IBD as routine practice.Öğe Autoantibody Positivity in Children with Chronic Diarrhea(Galenos Yayincilik, 2020) Tuhan, Hale; Aslan, Asli; Ecevit, Cigdem; Azarsiz, Elif; Karaca, Neslihan; Cetin, Funda; Aksu, GuzideAim: We aimed to determine the frequency of autoantibody antinuclear (ANA), peripheral anti-neutrophil cytoplasmic antibody (p-ANCA), anti-saccharomyces cerevisiae antibody (ASCA), anti-pancreatic exocrine gland antibody (PAb), goblet cell antibody (GAb) positivities in children with the complaint of chronic diarrhea and inflammatory bowel disease (IBD). We also purposed to explore the role of these autoantibodies in the differential diagnosis of IBD. Materials and Methods: in our study, serum samples of 51 patients with the complaint of chronic diarrhea and 35 healthy controls were analyzed. Clinical and laboratory data at the time of serum sampling were collected and a differential diagnosis was made as the results of performed tests were recorded. For all patients, ANA, p-ANCA, ASCA, GAb, PAb positivities were evaluated by indirect immunofluorescence. the chronic diarrhea group was divided into two groups, namely, the IBD group and non-IBD group. Results: in the chronic diarrhea group, 11 (21.6%) patients had ANA, 3 (5.9%) had p-ANCA, 1 (2%) had PAb, 1 (2%) had Gab and 1 (2%) had ASCA positivity. From the 35 cases of the control group, 8 (22.9%) had ANA, 7 (20%) had ASCA positivity. in the control group, ASCA was found to be high (p=0.007). Six cases were diagnosed as IBD; 1 (16.7%) had ANA, 1 (16.7%) had p-ANCA, 1 (2%) had Gab and 1 (2%) had ASCA positivity. ASCA and GAb positivities were significantly more frequent in the IBD group (p=0.006, p=0.006, respectively). Conclusion: ASCA was determined to be significantly higher in the control group. High positivity in the control group showed that the percentage of nonspecific positivity may be high for this test. ASCA and GAb of those patients with a diagnosis of IBD were found significantly higher. the serologic tests which depend on p-ANCA, ASCA, PAb, GAb can be supportive of diagnoses and differential diagnoses of IBD. Autoantibodies in IBD may be used as a supportive diagnostic tool in selected cases, rather than as the diagnosis of IBD as routine practice.Öğe Early-Onset Isolated Bilateral Pheochromocytoma As a Major Clinical Manifestation of von-Hippel Lindau Syndrome Type 2C(Galenos Yayincilik, 2018) Acar, Sezer; Tuhan, Hale; Demir, Korcan; Aykut, Ayca; Durmaz, Asude; Karaarslan, Unal Utku; Inci, Gozde; Ates, Oguz; Bober, Ece; Abaci, AyhanPheochromocytoma is a rare disease that is characterized by the increased production and secretion of catecholamines from the adrenal medulla. The disease is autosomal dominant, and frequently sporadic and unilateral. Pheochromocytoma, which is diagnosed during childhood, mostly arises as a part of cancer susceptibility syndromes. Among these syndromes, von-Hippel Lindau (VHL) syndrome is dominantly inherited, and is frequently identified in childhood pheochromocytoma. VHL syndrome is clinically characterized with hemangioblastomas of the central nervous system and retina, renal cell carcinoma, and pheochromocytoma, and has been demonstrated to have a strong genotype-phenotype correlation. In this case report, we presented an 11-year-old male who was found to have early-onset isolated bilateral pheochromocytoma and V84L mutation in VHL. We aimed to emphasize that this rarely reported mutation is associated with VHL Type 2C that classically manifests with early-onset isolated bilateral pheochromocytoma.Öğe Identification of an AR mutation in Klinefelter syndrome during evaluation for penoscrotal hypospadias(Hellenic Endocrine Soc, 2017) Acar, Sezer; Tuhan, Hale; Bora, Elcin; Demir, Korcan; Onay, Huseyin; Ercal, Derya; Bober, Ece; Abaci, AyhanGenital anomalies, ranging from female genitalia to milder degrees of undervirilization, are rarely reported in Klinefelter syndrome, in which a male is classically expected to be born with male external genitalia. Though androgen insensitivity syndrome (AIS) is one of the possible pathogenic mechanisms also in Klinefelter syndrome with genital anomalies, to date the AR gene has not been analyzed in any of the published cases of Klinefelter syndrome of the milder phenotype, except for those patients presenting with a severe phenotype, such as female external genitalia. Lack of interest in considering androgen insensitivity in Klinefelter syndrome with a milder phenotype of genital anomalies may impede its identification through an accurate diagnosis. We present a 14-month-old boy with penoscrotal hypospadias, micropenis, and a ventral penile chordee abnormality who was observed to have both a 47, XXY karyotype and a known missense mutation in the AR gene that was inherited from his mother. Although it is recommended that Klinefelter syndrome be considered in the differential diagnosis of penoscrotal abnormalities, mutations in specific genes involved in androgen synthesis or responsiveness should also be investigated.Öğe Identification of an AR Mutation in Klinefelter's Syndrome during Evaluation for Penoscrotal Hypospadias(Karger, 2016) Acar, Sezer; Tuhan, Hale; Bora, Elcin; Demir, Korcan; Onay, Huseyin; Ercal, Derya; Bober, Ece; Abaci, Ayhan...Öğe Intratubular large cell hyalinizing Sertoli cell tumor of the testis presenting with prepubertal gynecomastia: a case report(Taylor & Francis Ltd, 2017) Tuhan, Hale; Abaci, Ayhan; Sarsik, Banu; Ozturk, Tulay; Olguner, Mustafa; Catli, Gonul; Anik, Ahmet; Olgun, Nur; Bober, EceIntratubular large cell hyalinizing Sertoli cell neoplasia (ITLCHSCN) resulting from Sertoli cells of the testis are mainly reported in young adults and these are rarely seen in childhood. The most common presenting symptoms of the patients diagnosed with ITLCHSCN are gynecomastia, enlargement in the testicles, increase in growth velocity, and advanced bone age. Symptoms are basically resulting from increased aromatase enzyme activity in Sertoli cells. In this case report, an eight-and-a-half-year-old case presenting with complaint of bilateral gynecomastia since two years, showing no endocrine abnormality in laboratory during two years of follow-up, determined to have progression in bilateral gynecomastia, increase in testicular volumes, advanced bone age, increase in growth velocity in the clinical follow-up, and diagnosed with ITLCHSCN after testis biopsy was presented.Öğe Intratubular Large Cell Hyalinizing Sertoli Cell Tumor of the Testis Presenting with Prepubertal Gynecomastia: A Case Report(Karger, 2016) Tuhan, Hale; Abaci, Ayhan; Sarsik, Banu; Ozturk, Tulay; Olguner, Mustafa; Catli, Gonul; Anik, Ahmet; Olgun, Nur; Bober, Ece
