PubMed İndeksli Açık & Kapalı Erişimli Yayınlar
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Item Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective(2022) Ezgu, Fatih; Alpsoy, Erkan; Bicik Bahcebasi, Zerrin; Kasapcopur, Ozgur; Palamar, Melis; Onay, Huseyin; Ozdemir, Binnaz Handan; Topcuoglu, Mehmet Akif; Tufekcioglu, Omac; 0000-0003-3478-9292; 35236382This consensus statement by a panel of Fabry experts aimed to identify areas of consensus on conceptual, clinical and therapeutic aspects of Fabry disease (FD) and to provide guidance to healthcare providers on best practice in the management of pediatric and adult patients with FD. This consensus statement indicated the clinical heterogeneity of FD as well as a large number of pathogenic variants in the GLA gene, emphasizing a need for an individualized approach to patient care. The experts reached consensus on the critical role of a high index of suspicion in symptomatic patients and screening of certain at-risk groups to reveal timely and accurate diagnosis of FD along with an increased awareness of the treating physician about the different kinds of pathogenic variants and their clinical implications. The experts emphasized the crucial role of timely recognition of FD with minimal delay from symptom onset to definite diagnosis in better management of FD patients, given the likelihood of changing the disease's natural history, improving the patients' quality of life and the prognosis after enzyme replacement therapy (ERT) administered through a coordinated, multidisciplinary care approach. In this regard, this consensus document is expected to increase awareness among physicians about unique characteristics of FD to assist clinicians in recognizing FD with a well-established clinical suspicion consistent with pathogenic variants and gender-based heterogeneous clinical manifestations of FD and in translating this information into their clinical practice for best practice in the management of patients with FD.Item A Rare Lymphoproliferative Disease: Castleman Disease(2021) Karakus, Sema; 34719151Castleman disease is a rare lymphoproliferative disease also known as angiofollicular lymph node hyperplasia. It is classified as hyaline vascular and plasmacytic variants histologically but characteristics of both types can coexist. Most unicentric cases of the disease are hyaline vascular while most multicentric cases are of the plasmacytic type. Although the pathogenesis is not completely understood, the role of interleukin (IL)-6 in unicentric disease and the roles of IL-6 and human herpes virus-8 in multicentric disease are well defined. Unicentric disease is typically localized and symptoms are minimal and treated locally. Multicentric disease is systemic and clinically characterized by generalized lymphadenopathy, splenomegaly, anemia, and systemic inflammatory symptoms. Systemic therapies are primarily given. Several malignant diseases including lymphomas, POEMS syndrome, follicular dendritic cell sarcomas, paraneoplastic pemphigus, Kaposi sarcoma, and amyloidosis can be associated with Castleman disease. In this paper, recent information about Castleman disease, which is a rare disease, is summarized.Item Male Breast Cancer: Clinicopathological, Immunohistochemical and Radiological Study(2020) Hasbay, Bermal; Bolat, Filiz Aka; Aytac, Huseyin Ozgur; Kus, Murat; Pourbagher, Aysin; 0000-0001-6529-7579; 0000-0002-3583-9282; 32525214; AAJ-7870-2021; AAJ-7913-2021Objective: To evaluate the pathological and radiological features, immunohistochemical profile and treatment methods of primary male breast carcinoma cases diagnosed at our center. Material and Method: The pathology archive between 2006 and 2019 was reviewed and the data of 27 male patients diagnosed as primary breast cancer were retrospectively evaluated. Results: The age of the patients ranged between 40-86 years. The left breast was involved in 17 patients. The mean tumor diameter was 2.35 +/- 1.09 cm. Of the 27 cases, 8 were dead and 19 were alive. The mean follow-up duration was 37.45 +/- 24.84 months. The mean estimated life expectancy was 65 +/- 14.7 months. The most common complaint was a swelling in the breast. The time interval between the onset of complaints and admittance to hospital ranged from three months to two years. The most common histopathological diagnosis was invasive carcinoma - no special type. The most common surgical procedure was mastectomy with lymph node dissection. Nine patients had metastatic lymph nodes. In terms of the hormone profiles, 24 were Estrogen receptor positive, 21 were Progesterone receptor positive and six were Her2/neu positive. Three patients had triple-negative tumors. Conclusion: Male breast carcinoma is a rare disease but its frequency has been increasing recently. As breast cancer is more commonly attributed to women, the diagnosis is usually delayed until later stages in males. Public awareness should therefore be increased and breast cancer should be considered in the differential diagnosis especially in the presence of breast swelling and complaints related to the breast skin so that the appropriate biopsy can be obtained without delay.Item Demographic Characteristics, Anatomical Distribution, and Clinical Presentations of Lipomatosis Tumors Arising from Hand and Wrist(2016) Sahin, Mehmet Sukru; Ergun, Adviye; Akin, Aslan; Kitis, Ali; 0000-0001-7677-8423; 27999457; AAJ-9972-2021The aim of this study is to analyze demographic characteristics, anatomical distribution, and clinic presentations of the lipomatosis masses in hand and wrist. The hand and wrist magnetic resonance (MR) images of 2,453 patients were evaluated retrospectively. Nineteen cases were included in the study that is seen fat component in mass in MR images. Patients' age, sex, and clinical symptoms were noted. The size and the localization area of the mass were evaluated. Ordinary lipomas were detected in 18 (95%) patients, and fibrolipomatous hamartoma of the median nerve was detected in 1 patient (5%). Benign ordinary lipomas were most frequently observed in palmar and ventral sides. Lipomas located in palmar area tend to be bigger size comparing with other locations. Deep-seated lipoma is localized in central area frequently. In ordinary lipoma cases, patients are generally (78%) asymptomatic. The most frequent clinical symptom is limitation in movement depending on mass dimension.Item A Report of Brugada Syndrome Presenting with Cardiac Arrest Triggered by Verapamil Intoxication(2017) Erdogan, Ilkay; Yakut, Kahraman; Varan, Birgul; Atar, Ilyas; 0000-0001-6887-3033; 0000-0002-6719-8563; 29215340; ABB-2220-2021; AAJ-2305-2021; ABB-1767-2021Background: Brugada syndrome is a disease characterized by a specific electrocardiographic pattern and an increased risk of sudden cardiac death. We present this case with the updated literature to emphasise the need to consider the diagnosis of Brugada syndrome in patients admitted to the emergency ward with sudden cardiac arrest. Case Report: A 16-year-old female patient was admitted to the emergency ward with complaints of weakness and abdominal pain, and she had four cardiac arrests during her evaluation period. She was referred to our clinic for permanent pacemaker implantation. She was on a temporary pace maker after having had C-reactive protein. Her physical exam was normal except for bilaterally decreased lung sounds. Lung x-ray and computed tomography, which were performed by another institution, revealed minimal pleural effusion and nothing else of significance. Blood and peritoneal fluid samples were sterile. Echocardiographic exam and cardiac enzymes were also in the normal ranges. Electrocardiographic showed incomplete right branch block in leads V1 and V2. An ajmaline test revealed specific electrocardiographic findings of the type I Brugada pattern. We proposed implanting an implantable cardioverter defibrillator to the patient as there were positive findings on the ajmaline test as well as a history of sudden cardiac arrest. After this treatment proposal, the patient's family admitted that she had taken a high dose of verapamil and thus, the encountered bradycardia was associated with verapamil overuse. The ajmaline test was repeated as it was contemplated that the previous positive ajmaline test had been associated with verapamil overuse. Implantable cardioverter defibrillator implantation was proposed again as there was a history of sudden cardiac arrest; however, the family did not consent to implantable cardioverter defibrillator, and the patient was discharged and followed up. Conclusion: Brugada syndrome should be considered for patients who are admitted to the emergency ward with sudden cardiac arrest though surface electrocardiographic is normal. If there is a suspicion of Brugada syndrome, repeated electrocardiographic should be performed on different occasions. Diagnosis can be clarified by upper costal electrocardiographic or by administering Na channel blockers during electrocardiographic performance.Item Prospective Observational Study on acute Appendicitis Worldwide (POSAW)(2018) Akkapulu, Nezih; 0000-0001-7392-961X; 29686725; AAM-8548-2021Background: Acute appendicitis (AA) is the most common surgical disease, and appendectomy is the treatment of choice in the majority of cases. A correct diagnosis is key for decreasing the negative appendectomy rate. The management can become difficult in case of complicated appendicitis. The aim of this study is to describe the worldwide clinical and diagnostic work-up and management of AA in surgical departments. Methods: This prospective multicenter observational study was performed in 116 worldwide surgical departments from 44 countries over a 6-month period (April 1, 2016-September 30, 2016). All consecutive patients admitted to surgical departments with a clinical diagnosis of AA were included in the study. Results: A total of 4282 patients were enrolled in the POSAW study, 1928 (45%) women and 2354 (55%) men, with a median age of 29 years. Nine hundred and seven (21.2%) patients underwent an abdominal CT scan, 1856 (43.3%) patients an US, and 285 (6.7%) patients both CT scan and US. A total of 4097 (95.7%) patients underwent surgery; 1809 (42.2%) underwent open appendectomy and 2215 (51.7%) had laparoscopic appendectomy. One hundred eighty-five (4.3%) patients were managed conservatively. Major complications occurred in 199 patients (4.6%). The overall mortality rate was 0.28%. Conclusions: The results of the present study confirm the clinical value of imaging techniques and prognostic scores. Appendectomy remains the most effective treatment of acute appendicitis. Mortality rate is low.