Browsing by Author "Diniz, G"
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Item Histopathological and Genetic Features of Patients with Limb Girdle Muscular Dystrophy Type 2CDiniz, G; Hazan, F; Yildirim, HT; Ünalp, A; Polat, M; Serdaroglu, G; Güzel, O; Bag, O; Seçil, Y; Özgönül, F; Türe, S; Akhan, G; Tükün, AObjective: In this study, it was aimed to describe the clinical, histopathological and genetic features of 20 patients with gamma sarcoglycanopathy confirmed by muscle biopsies and genetic analysis. Material and Method: We retrospectively reviewed 20 patients from whom muscle biopsy specimens were obtained between 2007 and 2012. All patients were clinically diagnosed as muscular dystrophy and biopsy materials were collected from five different centers of neurological disorders. All DNAs were extracted from muscle tissues or blood samples of patients and genetic tests (mutation analyses for gamma sarcoglycan gene and deletion-duplication analyses for all 4 sarcoglycan genes) were performed. Results: The mean age of the patients was 7.6 years (2 - 21 years). Only one case (5%) was older than 14 years. The mean CPK level was 10311 U/L (1311 - 35000 U/L). There were 4 siblings in these series. Expression defects of gamma sarcoglycan staining were determined in (15 males, and 5 females) all patients with muscle biopsy specimens. But only in 9 of them, disease-causing defects could be determined with genetic analyses. Conclusion: The present study has demonstrated that both examination of muscle biopsy specimens and DNA analysis remain important methods in the differential diagnosis of muscular dystrophies. Because dystrophinopathies and sarcoglycanopathies have similar clinical manifestation.Item Allergic Rhinitis and Its Relationship with IL-10, IL-17, TGF-β, IFN-γ, IL 22, and IL-35Degirmenci, PB; Aksun, S; Altin, Z; Bilgir, F; Arslan, IB; Colak, H; Ural, B; Kahraman, DS; Diniz, G; Ozdemir, B; Kirmaz, CBackground. We aimed in our study to research the role of new cytokines such as IL-35, IL-22, and IL-17 that may form a target for novel treatment approaches. Methods. IL-10, IL-17, TGF-beta, IFN-gamma, IL-22, and IL-35 serum levels of allergic rhinitis (AR) patients were measured using ELISA method. Allergic sensitization was demonstrated by the skin prick test. Patients only with olive tree sensitivity were evaluated for seasonal AR (SAR). Patients only with mite sensitivity were included in the study for perennial AR (PAR). AR clinic severity was demonstrated by the nasal symptom scores (NSS). Results. In total, 65 AR patients (patient group), having 31 PAR and 34 SAR patients, and 31 healthy individuals (control group) participated in the study. Cytokine levels between the patient group and the control group were compared; IL-17 (p = 0 038), IL-22 (p = 0 001), and TGF-beta (p = 0 031) were detected as high in the patient group, and IFN-gamma (p < 0 001) was detected as low in the patient group. When correlation analysis was made between age, gender, prick test result, NSS, AR duration, and cytokine levels in the patient group, a negative correlation was detected only between IFN-gamma (p = 0 032/r = -0 266) level and NSS. Conclusions. Accompanied by the literature information, these results made us think that T cell subgroups and cytokines have an important role in AR immunopathogenesis. It is thought that future studies to be conducted relating to this subject will form new targets in treatment.Item The evaluation of muscle biopsy findings in children with neuromuscular disordersDiniz, G; Yildirim, HT; Ünalp, A; Barutçuoglu, M; Güzel, O; Polat, M; Türe, S; Özgönül, F; Serdaroglu, GObjective: The studies considering the clinical and histopathological features of childhood muscle disease are scarce in number worldwide. This study aims to examine the histopathological profile of the children's muscle biopsies evaluated at the Behcet Uz Children's Hospital (BUCH) and determine their correlation with clinical diagnosis. Methods: We retrospectively reviewed 323 children who underwent muscle biopsy examination between 2004 and 2011 at pathology laboratory of Izmir BUCH. All patients were clinically diagnosed as neuromuscular disorders and biopsy specimens were collected from 5 different centers of neurological disorders. Results: The mean age of the patients was 6.15 years (3 weeks-18 years). Only 22 cases (6.8%) were older than 14 and 39 (12.07%) were younger than twelve months. Spinal muscular atrophy (n=11; 28.2%) was the most common disease in the infantile group. Dystrophies were diagnosed in 148 (45.7%) patients and 102 of them were dystrophinopathies. Other disorders were 23 primary, 16 inflammatory and 19 metabolic/mitochondrial myopathies and 28 neuropathies. Seventy three (22.9%) patients had similarly affected family members. Consanguinity rate was 25.1%. Serum enzymes alterations, EMG pathologies and fiber type disproportion were determined in 109 (33.7%), 188 (58.2%) and 85 (26.3%) of the patients respectively. There were statistical significant correlations between the types of disease and serum enzyme levels (p=0.001), and age (p=0.015) of the patients. Conclusion: The present study revealed the panorama of the childhood muscle diseases in western Turkey. We conclude that if avoidance from unnecessary diagnostic and therapeutic interventions was desired, we must be aware of the limitation and diagnostic value of muscle biopsy evaluations in childhood muscle diseases.Item Investigating the Correlation Between Long-Term Response in Patients with Metastatic HER2+Breast Cancer and the Activity of Regulatory T Cells: A Retrospective StudyDegirmenci, M; Diniz, G; Kahraman, DS; Sahbazlar, M; Koral, L; Varol, U; Uslu, RBackground: Trastuzumab is commonly utilized in the management of metastatic HER2-positive breast cancer. Our main goal was to examine the clinical outcomes and immune markers of patients who received trastuzumab and chemotherapy treatment. Methods: Between 1995 and 2012, a total of 98 patients diagnosed with metastatic HER2-positive breast cancer were retrospectively analyzed at Ege University Hospital and Tepecik Training and Research Hospital. The clinicopathological characteristics and clinical outcomes of the patients were assessed, and the associations between response rates, survival and the immune profiles of tumor infiltrating lymphocytes were statistically evaluated. Results: The average age of patients at the time of diagnosis was 50.1 +/- 10.3 (ranging from 30 to 79) years. The mean follow-up period for all patients was 97.9 +/- 53.8 months. Among the patients, complete response was observed in 24.5%, partial response in 61.2%, and stable disease in 8.2% of cases. The average progression-free survival was 50.3 +/- 26.9 months (ranging from 1 to 163 months), and the average overall survival was 88.8 +/- 59.4 months (ranging from 12 to 272 months). After analyzing all cases, it was found that patients who were younger (p=0.006), exhibited higher CD3-positivity (p=0.041), presented with higher FOXP3-positivity (p=0.025), showed complete or at least partial response to treatment (p=0.008), and experienced a long-term response to trastuzumab (and chemotherapy) treatment had longer survival (p=0.001). Conclusion: Patients with HER2-positive breast cancer, who initially respond positively to palliative trastuzumab and chemotherapy treatment, can achieve long-term tumor remission lasting for several years.Item Programmed cell death ligand-1 expression in gastroentero-pancreatic neuroendocrine tumorsOktay, E; Yalcin, GD; Ekmekci, S; Kahraman, DS; Yalcin, A; Degirmenci, M; Dirican, A; Altin, Z; Ozdemir, O; Surmeli, Z; Diniz, G; Ayhan, S; Bulut, G; Erdogan, A; Uslu, RPurpose: Gastroenteropancreatic tumors (GEPNETs) is a heterogeneous disease with variable clinical course. While promising therapeutic options exist for other adult cancers, there are no new molecular-based treatments developed for GEPNETs. One of the main targets of cancer immunotherapy is the Programmed Cell Death Ligand-1 (PD-L1) pathway. Our purpose was to investigate the profile of PD-L1 expression in different organs of GEPNETs and compare the conventional immunohistochemistry (IHC) with the RNA expression analysis via real time polymerase chain reaction (RT-PCR) in order to determine which patients might be appropriate for immune check point-targeted therapy. Methods: A total of 59 surgically or endoscopically resected GEPNET tissues were retrospectively collected. The expression of PD-LI and mRNA was evaluated with IHC. Results: The expression of PD-L1 was significantly associated with the high-grade classification (p=0.012). PD-LI mRNA expression in tumor samples appeared to be higher compared to the corresponding normal tissues. In appendix, stomach and small intestine, the expression of PD-L1 mRNA was higher in the tumor tissues compared to the respective controls. In pancreas and colon, control tissues tend to have a higher PD-L1 mRNA expression compared to tumor tissues. PD-L1 mRNA expression was higher in GEP carcinomas (p=0.0031). Conclusion: RT-PCR was found to be more sensitive in detecting PD-L1 expression than conventional IHC. This study may provide an important starting point and useful background information for future research about immunotherapy for appendix, stomach and small intestine neuroendocrine carcinomas.Item Coincidence of Nemaline Myopathy and Agenesis of Corpus Callosum in a Newborn Infant: Case ReportAkbay, S; Ozer, E; Ilhan, O; Kanar, B; Memur, S; Diniz, G; Cavusoglu, D; Dündar, NOThe diagnosis of the hypotonia during neonatal period is difficult. In the neonatal period, acute illnesses and systemic diseases such as sepsis, congestive heart failure and inborn errors of metabolism should be considered in the differential diagnosis of the patients. Congenital disorders that affect nervous system can be the reason of hypotonia. Nemaline myopathy (NM) is a rare congenital myopathy, characterized with slowly progressive or nonprogressive muscle weakness and the inclusions known as nemaline rods characterized by rod-shaped structures (nemaline bodies) in muscle biopsy specimens. The disease can be presented with hypotonia, feeding problems, repeated respiratory infections, and arthrogryposis. Also, agenesis of corpus callosum (ACC) can result in an interhemispheric disconnection , neurologic problems such as mental retardation, and seizures. Unfortunately, there is no curative treatment for both of them. Herein, we report an infant who was admitted with generalized muscle weakness at the neonatal period and diagnosed as ACC with NM.Item A regional panorama of sarcoglycanopathiesDiniz, G; Hazan, F; Yildirim, HT; Unalp, A; Polat, M; Serdaroglu, G; Ture, S; Akhan, G; Tukun, A