Relevant bibliographies by topics / Orhpan diseases

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Academic literature on the topic 'Orhpan diseases'

Author: Grafiati
Published: 9 March 2023

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Journal articles on the topic "Orhpan diseases"

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Veselovska, Nataliia, and Zoya Veselovska. "Вasic research in ophthalmology – the modern perspective of new approaches to primary and secondary prevention of vascular diseases of the eye." Ukrainian journal Ophthalmology, no. 1 (01) (June 2015): 11–17. http://dx.doi.org/10.30702/ophthalmology.2015/06.1(01)/0211-17(612.08).

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This paper is presenting the literary materials about the necessity and importance of basic research in the field of medicine, particularly ophthalmology. These data revealed the analysis of well-known studies conducted by our famous scientists from different branches of medicine to explore different aspects of the functioning of the retina, to investigate the mechanisms of formation of the visual image, to define the role of individual cells in the function of color vision with different methods, to reveal the effects of ionizing radiation on the lens after Chernobyl disaster. This article contains the information about the results of learning the peculiarities of physiological and pathological processes in retina cells on the intracellular and membrane levels using the unique experimental techniques. The history aspects of some basic research in medicine and ophthalmology are revealed too. On these data the authors demonstrate the evidence of high information content and the importance of interdisciplinary research in the resolving of complex medical problems for the future of ophthalmology with involving the more informative methods of different subjects of medicine.
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Civi Karaaslan, T., S. Ugurlu, and E. Tarakci. "AB0860-HPR IS THERE A RELATIONSHIP BETWEEN PHYSICAL ACTIVITY, SLEEP QUALITY, ANXIETY AND DEPRESSION IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER?" Annals of the Rheumatic Diseases 80, Suppl 1 (May 19, 2021): 1453.2–1453. http://dx.doi.org/10.1136/annrheumdis-2021-eular.1290.

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Background:Maintenance of regular physical activity is associated with better physical and mental health (1). In addition, sleep disturbances and mood disorders are common in chronic inflammatory diseases (2).Objectives:The aim of this study was to determine the relationship between physical activity, sleep quality, anxiety and depression in patients with FMF.Methods:A total of 56 patients (30 female, 26 male) with Familial Mediterranean Fever (FMF) were enrolled in the study. They were diagnosed with FMF based on the Livneh diagnostic criteria (3). International Physical Activity Questionnaire - Short Form (IPAQ) was used to evaluate health-related physical activity. Patient-reported sleep quality was evaluated with the Pittsburgh Sleep Quality Index (PSQI). Hospital Anxiety and Depression Scale (HADS) was used to evaluate anxiety and depression in FMF patients. Patients who were 20-55 years old was included in the study.Results:The mean age was 32.23±9.87 years. The mean disease duration of the patients was 12.24±7.61 years. The education level of 51.8% (n=29) of the participants was undergraduate and above. The rate of those who did not work was 32.1% (n=18) and 48.2% (n=27) of the participants were married. The mean of scores of IPAQ was 2333.99±2640.29, the mean of PSQI was 6.14±3.66, the mean of HADS-Anxiety was 7.89±5.03 and HADS-Depression was 7.01±4.44. The patients were classified according to physical activity categories as low (25.0%, n=14), moderate (41,1% n=23) and high (33.9%, n=19). Physical activity categories were not found associated with PSQI (p=0.437), HADS-Anxiety (p=0.363) and HADS-Depression (p=0.861). The relationships of scores of IPAQ, PSQI and HADS were demonstrated Table 1.Conclusion:This study confirmed that patients with FMF suffer from sleep disturbances, anxiety and depression. In addition, sleep disturbances, anxiety and depression were not associated with physical activity category.References:[1]Sokka, Tuulikki, et al. Physical inactivity in patients with rheumatoid arthritis: data from twenty-one countries in a cross-sectional, international study. Arthritis Care & Research: Official Journal of the American College of Rheumatology, 2008, 59.1: 42-50.[2]Kucuksahin, Orhan, et al. Incidence of sleep disturbances in patients with familial Mediterranean fever and the relation of sleep quality with disease activity. International journal of rheumatic diseases, 2018, 21.10: 1849-1856.[3]Bashardoust, Bahman. Familial Mediterranean fever; diagnosis, treatment, and complications. Journal of nephropharmacology, 2015, 4.1: 5.Table 1.The correlations of IPAQ, PSQI and HADS scores.HADS-DepressionHADS-AnxietyPSQIIPAQr-0.091-0.142-0.002p0.5050.2950.990PSQIr0.6890.615p0.0010.001HADS-Anxietyr0.681p0.001-Pearson CorrelationDisclosure of Interests:None declared
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Bilgin, E., Ö. Bayindir, E. Kasapoğlu, S. Bakirci, D. Solmaz, G. Kimyon, A. Doğru, et al. "AB0743 DISEASE CHARACTERISTICS OF PSORIATIC ARTHRITIS PATIENTS MAY DIFFER ACCORDING TO AGE AT PSORIASIS ONSET: CROSS-SECTIONAL ANALYSIS OF PSORIATIC ARTHRITIS-INTERNATIONAL DATABASE." Annals of the Rheumatic Diseases 79, Suppl 1 (June 2020): 1667.2–1668. http://dx.doi.org/10.1136/annrheumdis-2020-eular.519.

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Background:Psoriasis and psoriatic arthritis (PsA) are heterogenous diseases with various disease manifestations and phenotypes. Psoriasis has a bimodal age of onset being early (before the age of 40, type 1) and late. The impact of this classification on the PsA features is not well understood.Objectives:To compare the PsA characteristics of patients with early- and late-onset psoriasis in a large, multicenter databaseMethods:PSART-ID (Psoriatic Arthritis-International Database) is a prospective, multicenter web-based registry (www.trials-network.org) of patients with PsA. A detailed data collection was performed including demographics (sex, age, duration of education, smoking status, BMI), skin features (psoriasis onset date, type, initially involved site of skin, nail involvement (ever) and family history) and PsA characteristics (type of articular involvement and presence of axial, dactylitis (ever), enthesitis (ever), family history) and indices for disease activity and function (DAPSA, Leeds enthesitis index, BASDAI, BASFI, patient and physician global assessment, pain, HAQ-DI). We grouped according to the age at psoriasis onset (early onset, psoriasis before the age of 40 (EOPsO); late-onset, psoriasis after the age of 40 (LOPsO)), patient and disease characteristics of the groups were compared (1). Due to the differences among groups, following adjustments weer made: BMI for age, nail involvement for PsO disease duration, axial PsA for PsA disease duration.Results:A total of 1634 (62.8% females; EOPsO, 1108 (67.8%); LOPsO, 526 (32.2%)) patients with PsA was recruited. Rate of over-weight patients was higher in LOPsO group (66.8% vs. 86.8%, p<0.001; adjusted for age - aOR 1.55 (1.11-2.20; % 95 CI)). The EOPsO group had the scalp involvement as the initial site of skin disease more often than the LOPsO group (56.7% vs. 43.0%, p<0.001), whereas extremity involvement was more frequent as the initial finding in the LOPsO group (EOPsO vs. LOPsO 63.8% vs. 74.2%, p<0.001). Nail involvement (ever) was more prominent in EOPsO group, however, the significance was disappeared when adjusted for psoriasis duration. Interaction between gender and both axial disease and psoriatic disease family history were found (axial disease in man; EOPsO vs LOPsO; 38.0% vs. 25.4%; p=0.005; adjusted for PsA duration - aOR 0.56 (0.38-0.84; %95 CI) // psoriatic disease family history in females; EOPsO vs LOPsO; 39.5% vs. 30.1%; p=0.003; OR 0.65 (0.50-0.86; %95 CI)). Duration between PsO and PsA was significantly longer in EOPsO group (148 vs. 24 months, p<0.001). In EOPsO group, more patients had PsO preceeding PsA than LOPsO group (81.8% vs. 60.6%, p<0.001), however, synchronous disease -defined as the diagnosis of PsO and PsA within the same year- was more common in LOPsO group (16.6% vs. 30.3%, p<0.001) (Table 1). Psoriatic disease activity parameters, patient and physician reported outcomes and HAQ-DI scores were similar in both groups.Table 1.Comparison of psoriatic arthritis patients‘ characteristics according to age at psoriasis onsetConclusion:Clinical features of PsA may be affected by the age at the onset of psoriasis. As the genetic background is different in early and late-onset psoriasis, this may suggest a different pathogenetic mechanism based on the psoriasis phenotype, also affecting the PsA features. Further prospective studies are needed to define whether the classification of PsA requires including psoriasis phenotypes as well.References:[1]Henseler T, Christophers E. Psoriasis of early and late onset: characterization of two types of psoriasis vulgaris. J Am Acad Dermatol. 1985;13(3):450-6.Disclosure of Interests:Emre Bilgin: None declared, Özün Bayindir: None declared, esen kasapoğlu: None declared, Sibel Bakirci: None declared, Dilek Solmaz: None declared, Gezmiş Kimyon: None declared, Atalay Doğru: None declared, Ediz Dalkiliç: None declared, Cem Özişler: None declared, Meryem Can: None declared, Servet Akar: None declared, Emine Figen Tarhan: None declared, Şule Yavuz: None declared, Levent Kiliç: None declared, Orhan Küçükşahin: None declared, Ahmet Omma: None declared, Emel Gönüllü: None declared, Fatih Yildiz: None declared, Duygu Ersözlü: None declared, abdurrahman tufan: None declared, Muhammet Çinar: None declared, Abdulsamet Erden: None declared, Sema Yilmaz: None declared, Seval Pehlevan: None declared, Tuncay Duruöz: None declared, Sibel Aydin: None declared, Umut Kalyoncu Consultant of: Abbvie, Amgen, Janssen, Lilly, Novartis, UCB
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Zengin, Çağatay. "Aortic stiffness index and diurnal variability (dipper/non-dipper) in hypertensive patients Original Article March 2018 402 Views Aim: Aortic stiffness is an independent predictor of primary coronary events in hypertensive patients. In this study, we aimed to evaluate how aortic elasticity parameters [aortic distensibility (AD), aortic stiffness index (ASI), aortic strain (AS)] is affected by the diurnal rhythm of the blood pressure in hypertensive and normotensive individuals without a known cardiovascular disease. Material and Method: In this… Additional Info Recieved 30.11.2017 Accepted 05.01.2018 Published Online 07.01.2018 Printed 01.03.2018 DOI 10.4328/JCAM.5547 Author Turgay Aslan, Özge Kurmuş, Cemal Köseoğlu, Ahmet Göktuğ Ertem, Mehmet Erdoğan, Tolga Han Efe, Mehmet Bilge Identifier J Clin Anal Med. 2018;9(2):128-132 Index Page 128-132 Citations in Google Scholar Google Scholar How to Cite Turgay Aslan, Özge Kurmuş, Cemal Köseoğlu, Ahmet Göktuğ Ertem, Mehmet Erdoğan, Tolga Han Efe, Mehmet Bilge. Aortic stiffness index and diurnal variability (dipper/non-dipper) in hypertensive patients. J Clin Anal Med. 2018;9(2):128-132 Running Title Aortic stiffness and hypertension Download attachments: JCAM-5547.pdf Read more... Intraoperative ultrasound use in intracranial lesion surgery: An initial institution experience? Original Article March 2018 351 Views Aim: Intraoperative ultrasound imaging is used in brain tumor surgery to identify tumor remnants. In this study, we aimed to evaluate the resection successof the brain lesions in different nature using ultrasonography (USG) and to analyze the effects of USG. Material and Method: USG assisted surgical resectionwas performed in 23 patients who had a preliminary diagnosis of brain tumors in… Additional Info Recieved 09.11.2017 Accepted 06.01.2018 Published Online 07.01.2018 Printed 01.03.2018 DOI 10.4328/JCAM.5498 Author Hasan Emre Aydın, İsmail Kaya, Nevin Aydın, Ceren Kızmazoğlu, Orhan Kalemci, Tayfun Aydın Identifier J Clin Anal Med. 2018;9(2):121-124 Index Page 121-124 Citations in Google Scholar Google Scholar How to Cite Hasan Emre Aydın, İsmail Kaya, Nevin Aydın, Ceren Kızmazoğlu, Orhan Kalemci, Tayfun Aydın. Intraoperative ultrasound use in intracranial lesion surgery: An initial institution experience. J Clin Anal Med. 2018;9(2):121-124 Running Title Ultrasound use in intracranial lesion Download attachments: JCAM-5498.pdf Read more... A case of brucellosis presenting with mastoiditis and hearing loss Case Report March 2018 372 Views Brucellosis is a zoonotic, systemic infection which can involve any organ or system of the body. It is necessary to investigate in etiology of fever unknown. The signs and symptoms of Brucella infections can mimic those of many other diseases. Atypical findings may be seen in chronic disease and diagnosis and treatment may be delayed. In this case report, we… Additional Info Recieved 17.12.2017 Accepted 05.01.2018 Published Online 07.01.2018 Printed 01.03.2018 DOI 10.4328/JCAM.5584 Author Yeşim Alpay, Arzu İrvem, Haşmet Yazıcı Identifier J Clin Anal Med. 2018;9(2):174-176 Index Page 174-176 Citations in Google Scholar Google Scholar How to Cite Yeşim Alpay, Arzu İrvem, Haşmet Yazıcı. A case of brucellosis presenting with mastoiditis and hearing loss. J Clin Anal Med. 2018;9(2):174-176 Running Title Brusella mastoiditis and hearing loss Download attachments: JCAM-5584.pdf Read more... Efficacy of splint treatment or splint plus gabapentin treatment in idiopathic carpal tunnel syndrome Original Article March 2018 424 Views Aim: The aim of the present study was to evaluate the efficiency of gabapentin treatment combined with splint application in idiopathic carpal tunnel syndrome (CTS) and to determine clinically and electroneurophysiologically if the combined treatment is Additional Info Recieved 07.11.2017 Accepted 05.01.2018 Published Online 06.01.2018 Printed 01.03.2018 DOI 10.4328/JCAM.5483 Author Ozlem Mehmetoglu, Funda Tascioglu, Fulya Bakilan, Onur Armagan Identifier J Clin Anal Med. 2018;9(2):116-120 Index Page 116-120 Citations in Google Scholar Google Scholar How to Cite Ozlem Mehmetoglu, Funda Tascioglu, Fulya Bakilan, Onur Armagan. Efficacy of splint treatment or splint plus gabapentin treatment in idiopathic carpal tunnel syndrome. J Clin Anal Med. 2018;9(2):116-120 Running Title Splint or splint plus gabapentin in carpal tunnel syndrome Download attachments: JCAM-5483.pdf Read more... A single-center, cross-sectional prevalence of stress, anxiety, and depression in patients prior to elective coronary angiography Original Article March 2018 372 Views Aim: Coronary angiography is one of the definitive diagnostic tests for evaluating coronary artery disease. Patients undergoing this test suffer from psychological strains as well as life-threatening complications that cause many problems for patients. The aim of this study was to evaluate the level of stress, anxiety, and depression of patients prior to elective coronary angiography. Material and Method: This… Additional Info Recieved 12.12.2017 Accepted 28.12.2017 Published Online 05.01.2018 Printed 01.03.2018 DOI 10.4328/JCAM.5616 Author Majid Najafi Identifier J Clin Anal Med. 2018;9(2):143-146 Index Page 143-146 Citations in Google Scholar Google Scholar How to Cite Majid Najafi. A single-center, cross-sectional prevalence of stress, anxiety, and depression in patients prior to elective coronary angiography. J Clin Anal Med. 2018;9(2):143-146 Running Title Stress, anxiety, and depression in patients prior to coronary angiography Download attachments: JCAM-5616.pdf Read more... Why vaccination frequency is low in elderly patients? Original Article March 2018 377 Views Aim: The aim of the study is to investigate the frequency of vaccination in elderly outpatients, the reasons for not vaccinated despite vaccination recommendations and the related factors. Material and Method: The prospective study has done between June 2013- March 2015 and included patients who applied to outpatient clinic for the first time, regularly attending to the controls and having… Additional Info Recieved 11.12.2017 Accepted 29.12.2017 Published Online 05.01.2018 Printed 01.03.2018 DOI 10.4328/JCAM.5611 Author Mehmet Yuruyen, Gizem Ayan, Filiz Demirdağ, Zehra Kara, Suna Avcı, Hakan Yavuzer, Alper Döventaş, Deniz Suna Erdinçler Identifier J Clin Anal Med. 2018;9(2):138-142 Index Page 138-142 Citations in Google Scholar Google Scholar How to Cite Mehmet Yuruyen, Gizem Ayan, Filiz Demirdağ, Zehra Kara, Suna Avcı, Hakan Yavuzer, Alper Döventaş, Deniz Suna Erdinçler. Why vaccination frequency is low in elderly patients?. J Clin Anal Med. 2018;9(2):138-142 Running Title Vaccination in elderly patients Download attachments: J-5611.pdf Read more... PTEN, PAX2 and PINCH protein expression in normal endometrium, endometrial hyperplasia, and endometrioid adenocarcinomas Original Article March 2018 360 Views Aim: The purpose of this study was to investigate the role of PTEN, PAX2 and PINCH protein expressions in endometrial carcinogenesis. Material and Method: In this study 27 proliferative endometrium, 24 complex atypical hyperplasia, 10 complex hyperplasia without atypia, 30 simple hyperplasia without atypia, and 89 endometrioid type endometrial adenocarcinoma cases were enrolled. PTEN, PAX2 and PINCH antibodies were applied… Additional Info Recieved 09.12.2017 Accepted 01.01.2018 Published Online 05.01.2018 Printed 01.03.2018 DOI 10.4328/JCAM.5606 Author Esra Karakuş, Özlem Erdem, Çağatay Taşkıran, Anıl Onan, Resul Karakuş Identifier J Clin Anal Med. 2018;9(2):133-137 Index Page 133-137 Citations in Google Scholar Google Scholar How to Cite Esra Karakuş, Özlem Erdem, Çağatay Taşkıran, Anıl Onan, Resul Karakuş. PTEN, PAX2 and PINCH protein expression in normal endometrium, endometrial hyperplasia, and endometrioid adenocarcinomas. J Clin Anal Med. 2018;9(2):133-137 Running Title PTEN, PAX2 and PINCH protein expression Download attachments: J-5606.pdf Read more... Variations of coronary arteries in cadavers referred to Tehran forensic medicine organization Original Article March 2018 321 Views Aim: Coronary artery disease is the most common cause of death worldwide and is a major cause of hospitalization. The aim of this study was to determine variations in the coronary arteries for use in diagnosis and treatment. Material and Method: In this observational study, we evaluated the data on 1,001 cadavers referred to the Tehran Legal Medicine Organization during… Additional Info Recieved 10.11.2018 Accepted 27.12.2017 Published Online 05.01.2018 Printed 01.03.2018 DOI 10.4328/JCAM.5502 Author Fares Najari, Zahra Sheikhveisi, Ideh Baradaran Kayal Identifier J Clin Anal Med. 2018;9(2):125-127 Index Page 125-127 Citations in Google Scholar Google Scholar How to Cite Fares Najari, Zahra Sheikhveisi, Ideh Baradaran Kayal. Variations of coronary arteries in cadavers referred to Tehran forensic medicine organization. J Clin Anal Med. 2018;9(2):125-127 Running Title Variations of coronary arteries Download attachments: JCAM502.pdf Read more... Giant epidermal cyst of the upperarm: A rare case report Case Report March 2018 346 Views Subcutaneous epidermal cysts are commonly related to the scalp, face, neck, trunk and back. Fewer than 10% is seen in the extremities at any age and more common in men. Epidermoid cysts are benign, 3-20 mm in diameter and usually asymptomatic until they become infected or have become enlarged enough to cause damage to adjacent anatomic structures. The histopathological examination… Additional Info Recieved 19.11.2017 Accepted 02.01.2018 Published Online 03.01.2018 Printed 01.03.2018 DOI 10.4328/JCAM.5523 Author Omer Cengiz Identifier J Clin Anal Med. 2018;9(2):171-173 Index Page 171-173 Citations in Google Scholar Google Scholar How to Cite Omer Cengiz. Giant epidermal cyst of the upperarm: A rare case report. J Clin Anal Med. 2018;9(2):171-173 Running Title Giant epidermal cyst Download attachments: JCAM-5523.pdf Read more... Multipl skeletal muscle metastases from renal cell carcinoma after radical nephrectomy." Journal of Clinical and Analytical Medicine 9, no. 2 (March 1, 2018). http://dx.doi.org/10.4328/jcam.5459.

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Bedel, Cihan. "Investigation of thiol/disulfide homeostasis in familial mediterranean fever patients Original Article May 2018 611 Views Aim: To determine the thiol/disulfide homeostasis in patients with familial Mediterranean fever (FMF) and its correlation with the levels of inflammatory markersconsisting of white blood cell count, erythrocyte sedimentation rate, C-reactive protein and fibrinogen. Material and Method: This study was performed inthe internal Medicine department of Mustafa Kemal University Hospital in Turkey. A total of 27 FMF patients in the… Additional Info Recieved 26.02.2018 Accepted 11.03.2018 Published Online 13.03.2018 Printed 01.05.2018 DOI 10.4328/JCAM.5789 Author Cakirca G, Celik MM, Erdal H, Neselioglu S, Erel O, Basarali MK, Cakirca TD Identifier J Clin Anal Med 2018;9(3): 231-4. Index Page 231-4 Citations in Google Scholar Google Scholar How to Cite Cakirca G, Celik MM, Erdal H, Neselioglu S, Erel O, Basarali MK, Cakirca TD. Investigation of thiol/disulfide homeostasis in familial mediterranean fever patients. J Clin Anal Med 2018;9(3): 231-4. Running Title Thiol/disulfide homeostasis in FMF Download attachments: JCAM-5789.pdf Read more... Neonatal septicemia in tertiary hospitals in Konya, Turkey Original Article May 2018 365 Views Aim: Neonatal sepsis is one of the leading causes of mortality and morbidity in the developing world. The present study aims to determine the incidence andrisk factors of neonatal sepsis in a single center over a four-year period. Material and Method: This is a retrospective study of all cases of culture-proven neonatalsepsis admitted in the neonatal intensive care unit of… Additional Info Recieved 19.02.2018 Accepted 04.03.2018 Published Online 09.03.2018 Printed 01.05.2018 DOI 10.4328/JCAM.5774 Author Nuriye Tarakcı, Murat Konak Identifier J Clin Anal Med 2018;9(3): 187-91 Index Page 187-91 Citations in Google Scholar Google Scholar How to Cite Nuriye Tarakcı, Murat Konak. Neonatal septicemia in tertiary hospitals in Konya, Turkey. J Clin Anal Med 2018;9(3): 187-91 Running Title Sepsis and newborn Download attachments: JCAM-5774.pdf Read more... A hidden etiology in a case of recurrent carpal tunnel syndrome: Giant cell tumor of the tendon sheath Case Report May 2018 487 Views Giant cell tumors of the tendon sheath are the second most common neoplasms of ?hand ?and are one of the rare ?reasons of carpal tunnel syndrome.? Additional Info Recieved 24.01.2018 Accepted 23.02.2018 Published Online 25.02.2018 Printed 01.05.2018 DOI 10.4328/JCAM.5721 Author Galip Beltir, Sefik Murat Arikan, Omer Faruk Ates, Fusun Ardic Yukruk, Sadettin Dolar Identifier J Clin Anal Med 2018;9(3): 260-3 Index Page 260-3 Citations in Google Scholar Google Scholar How to Cite Galip Beltir, Sefik Murat Arikan, Omer Faruk Ates, Fusun Ardic Yukruk, Sadettin Dolar. A hidden etiology in a case of recurrent carpal tunnel syndrome: Giant cell tumor of the tendon sheath. J Clin Anal Med 2018;9(3): 260-3 Running Title A hidden etiology of the recurrent carpal tunnel syndrome Download attachments: JCAM-5721.pdf Read more... If no suspection, then no diagnosis: A case report Case Report May 2018 561 Views In this study, we examined the history and examination outcomes with differential diagnosis and further investigations of a 17-year old female patient with left wrist pain for about 3 years. It was reported the difficulty in diagnosis of a disease which can be presented in the wrist with atypical findings and that it must be considered in the differential diagnosis.? Additional Info Recieved 19.01.2018 Accepted 20.02.2018 Published Online 22.02.2018 Printed 01.05.2018 DOI 10.4328/JCAM.5713 Author Emin Kursat Bulut, Omer Faruk Ates, Galip Beltir Identifier J Clin Anal Med 2018;9(3): 257-9 Index Page 257-9 Citations in Google Scholar Google Scholar How to Cite Emin Kursat Bulut, Omer Faruk Ates, Galip Beltir. If no suspection, then no diagnosis: A case report. J Clin Anal Med 2018;9(3): 257-9 Running Title No suspection, no diagnosis Download attachments: JCAM-5713.pdf Read more... A very rare case of sphenoid lymphoma presenting as cavernous sinus syndrome Case Report May 2018 428 Views A 4-year-old boy admitted to our clinic with unilateral ophthalmoplegia, ptosis, and proptosis. He has been suffering the symptoms of a headache, nausea, dyspnea,fatigue, weakness, and loss of appetite for about three months. Complete blood count showed an increased white blood cell count with 77% blast cells, anemia, andthrombocytopenia. Magnetic resonance imaging (MRI) examination revealed the mass was obliterating the… Additional Info Recieved 23.01.2018 Accepted 20.02.2018 Published Online 22.02.2018 Printed 01.05.2018 DOI 10.4328/JCAM.5669 Author Taylan Gun, Aslan Guzel Identifier J Clin Anal Med 2018;9(3): 248-50 Index Page 248-50 Citations in Google Scholar Google Scholar How to Cite Taylan Gun, Aslan Guzel. A very rare case of sphenoid lymphoma presenting as cavernous sinus syndrome. J Clin Anal Med 2018;9(3): 248-50 Running Title Sphenoid lymphoma Download attachments: JCAM-5669.pdf Read more... A case of Fahr s disease presenting with seizures Case Report May 2018 576 Views Fahr’s disease is a rare idiopathic bilateral and symmetrical calcification of the basal ganglia, thalami, subcortical hemispheric white matter and deep cerebellar nuclei.We report an unusual case of Fahr’s disease in a 53-year-old man who presented with generalized seizure in our emergency department. Based on clinical, radiologicaland endocrinological appearance, the patient was diagnosed with Fahr’s disease associated with hypoparathyroidism. Parenteral… Additional Info Recieved 14.01.2018 Accepted 14.02.2018 Published Online 16.02.2018 Printed 01.05.2018 DOI 10.4328/JCAM.5687 Author Cihan Bedel, Goker Coskun Identifier J Clin Anal Med 2018;9(3): 251-3 Index Page 251-3 Citations in Google Scholar Google Scholar How to Cite Cihan Bedel, Goker Coskun. A case of Fahr s disease presenting with seizures. J Clin Anal Med 2018;9(3): 251-3 Running Title Fahr’s disease Download attachments: JCAM-5687.pdf Read more... Lneonatal meningitis due to streptoccocus dysgalactiae subspecies equisimilis: a case report and literature review Case Report May 2018 461 Views Streptococcus dysgalactiae subsp. equisimilis (SDSE) was firstly reported as a toxon among human streptococcal pathogens in the year 1996. Diseases caused by SDSE may vary from milder skin involvements including wound infection, erysipelas, and cellulitis to life-threatening clinical pictures as streptococcal toxic shock syndrome and necrotizing fasciitis. We describe a case of SDSE sepsis and meningitis in a 2-day-old newborn.… Additional Info Recieved 17.01.2018 Accepted 14.02.2018 Published Online 16.02.2018 Printed 01.05.2018 DOI 10.4328/JCAM.5697 Author Nuriye Tarakci, Fatma Hilal Yilmaz, Nazli Dilay Gultekin, Huseyin Altunhan, Rahmi Ors Identifier J Clin Anal Med. 2018;9(3):254-6 Index Page 254-6 Citations in Google Scholar Google Scholar How to Cite Nuriye Tarakci, Fatma Hilal Yilmaz, Nazli Dilay Gultekin, Huseyin Altunhan, Rahmi Ors. Lneonatal meningitis due to streptoccocus dysgalactiae subspecies equisimilis: a case report and literature review. J Clin Anal Med. 2018;9(3):254-6 Running Title Neonatal streptoccocal menengitis Download attachments: JCAM-5697.pdf Read more... Publication rate of abstracts presented in national congress of Turkish society of anesthesiology Original Article May 2018 585 Views Aim: This study aimed to determine the rate of conversion to scientific publication of abstracts presented at the annual congress of Turkish Society of Anesthesia and Reanimation (TARD) between the period of 2011-2013.Material and Method: The abstracts presented at TARD Congresses in 2011, 2012, 2013 and published in various peer-reviewed medical journals were identified using PubMed and Google Scholar. In… Additional Info Recieved 19.12.2017 Accepted 19.01.2018 Published Online 25.01.2018 Printed 01.05.2018 DOI 10.4328/JCAM.5630 Author Kutlu Hakan Erkal, Yucel Yuce Identifier J Clin Anal Med 2018;9(3): 195-9 Index Page 195-9 Citations in Google Scholar Google Scholar How to Cite Kutlu Hakan Erkal, Yucel Yuce. Publication rate of abstracts presented in national congress of Turkish society of anesthesiology. J Clin Anal Med 2018;9(3): 195-9 Running Title Publication rate of abstracts presented in national congress of Turkish society of anesthesiology Download attachments: JCAM-5630.pdf Read more... Assessment of platelet reactivity after the anthracycline-based chemotherapy via mean platelet volume: Does it act on anthracycline-induced cardiotoxicity? Original Article May 2018 560 Views Aim: Anthracycline-induced cardiotoxicity is the most frequent dose-limited toxicity. There has been numerous hypothesis about this matter. As an indicator of platelet size, mean platelet volume (MPV) is correlated with platelet reactivity, aggregation, and long-term atherosclerosis. We aimed to study whether the anthracycline triggers the elevation of MPV. Material and Method: Patients who had breast carcinoma and received anthracycline-based chemotherapy… Additional Info Recieved 12.12.2017 Accepted 23.01.2018 Published Online 25.01.2018 Printed 01.05.2018 DOI 10.4328/JCAM.5499 Author Gokmen Aktas, Tulay Kus, Emre Kus, Murat Sucu, Handan Haydaroglu Sahin, Mustafa Pehlivan Identifier J Clin Anal Med 2018;9(3): 183-6 Index Page 183-6 Citations in Google Scholar Google Scholar How to Cite Gokmen Aktas, Tulay Kus, Emre Kus, Murat Sucu, Handan Haydaroglu Sahin, Mustafa Pehlivan . Assessment of platelet reactivity after the anthracycline-based chemotherapy via mean platelet volume: Does it act on anthracycline-induced cardiotoxicity? J Clin Anal Med 2018;9(3): 183-6 Running Title Assessment of anthracycline-induced cardiotoxicity via MPV Download attachments: JCAM-5499.pdf Read more... The effect of high volume adrenalin solution infiltration on blood loss in reduction mammaplasty Original Article May 2018 457 Views Aim: One of the important complications during and after the reduction mammoplasty operation is blood loss. The most implemented method to decrease the amount of bleeding is adrenaline infiltration, but adrenalin is mostly infiltrated with the fluid in the volume less than 250cc in the clinic. It is expected that adrenaline will accumulate more in the tissue and thus, exhibit… Additional Info Recieved 25.12.2017 Accepted 16.01.2018 Published Online 17.01.2018 Printed 01.05.2018 DOI 10.4328/JCAM.5641 Author Erkan Orhan Identifier J Clin Anal Med 2018;9(3): 213-7 Index Page 213-7 Citations in Google Scholar Google Scholar How to Cite Erkan Orhan. The effect of high volume adrenalin solution infiltration on blood loss in reduction mammaplasty. J Clin Anal Med 2018;9(3): 213-7 Running Title High volume infiltration in mammaplasty Download attachments: JCAM-5641.pdf Read more... Cecal diverticulitis mimicking acute appendicitis: Management and short-term results of surgery Original Article May 2018 359 Views Aim: Caecal diverticulum is an infrequent cause of acute abdomen, and caecal diverticulitis usually presents in a behavior similar to acute appendicitis. This study aims to review our experience with surgical or nonsurgical management of cecal diverticulitis mimicking acute appendicitis in our department. Material and Method: From January 2012 to April 2017, fourteen patients were treated for cecal diverticulitis at… Additional Info Recieved 30.12.2017 Accepted 10.01.2018 Published Online 14.01.2018 Printed 01.05.2018 DOI 10.4328/JCAM.5650 Author Volkan Oter, Serdar Oter, Mehmet Tolga Kafadar Identifier J Clin Anal Med 2018;9(3): 222-5 Index Page 222-5 Citations in Google Scholar Google Scholar How to Cite Volkan Oter, Serdar Oter, Mehmet Tolga Kafadar. Cecal diverticulitis mimicking acute appendicitis: Management and short-term results of surgery. J Clin Anal Med 2018;9(3): 222-5 Running Title Management of cecal diverticulitis Download attachments: JCAM-5650.pdf Read more... Risk of sharp injuries and mucocutaneous exposures in healthcare workers: ongoing problem despite prevention programs Original Article May 2018 316 Views Aim: The fact that documented cases of sharp injuries and mucocutaneous exposures are still occurring is a reminder of the importance of preventing injuriesand of providing services for the prompt and appropriate management of such incidents. Our study provides an overview of the risks associated with needlestickand sharps injuries and lids a light in prevention strategies to protect the healthcare… Additional Info Recieved 03.01.2018 Accepted 10.01.2018 Published Online 11.01.2018 Printed 01.05.2018 DOI 10.4328/JCAM.5648 Author Zeliha Haytoglu, Ozlem Ozgur Gundeslioglu Identifier J Clin Anal Med 2018;9(3): 218-21 Index Page 218-21 Citations in Google Scholar Google Scholar How to Cite Zeliha Haytoglu, Ozlem Ozgur Gundeslioglu. Risk of sharp injuries and mucocutaneous exposures in healthcare workers: ongoing problem despite prevention programs. J Clin Anal Med 2018;9(3): 218-21 Running Title Sharp injuries and mucocutaneous exposures Download attachments: JCAM-5648.pdf Read more... A rare cause in the differential diagnosis of abdominal pain: stercoral colitis." Journal of Clinical and Analytical Medicine 9, no. 3 (May 1, 2018). http://dx.doi.org/10.4328/jcam.5637.

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Dissertations / Theses on the topic "Orhpan diseases"

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TERRANEO, SILVIA. "WOMEN WITH LYMPANGIOLEIOMYOMATOSIS: FROM RESPIRATORY FUNCTION TO SERUM BIOMARKERS ANALYSIS. PHENOTYPING OF A RARE DISEASE." Doctoral thesis, Università degli Studi di Milano, 2019. http://hdl.handle.net/2434/628877.

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Abstract:
Lymphangioleiomyiomatosis (LAM) is a rare progressive cystic lung disease that affects almost exclusively women. LAM can occur sporadically, or can be associated with tuberous sclerosis complex (TSC); a rare disorder with multiorgan involvement effecting the brain, kidneys, heart, liver, skin and eyes and is associated with intellectual disability, epilepsy and autism spectrum disorders. Dr.Terraneo PhD project was developed with the aim to expand clinical knowledge about diagnosis and follow up as well as to analyze pathogenic aspect of the development of the disease. As a first step of the PhD project, the association between LAM and other features of TSC (e.g. demography, extrapulmonary manifestations, genetic mutations..) was investigated as well as the role of pulmonary function tests (PFTs) for LAM diagnosis. Our results demonstrate that age, but not PFTs, is independently associated with LAM development in patients with TSC. PFTs, even if indicated to assess impairment in lung function, result feasible in a limited number of patients due to cognitive impairment, and are not significantly useful for LAM diagnosis in women with TSC. Successively, the case of a patients with coexistence of three rare diseases (autoimmune hepatitis/primary biliary cirrhosis overlap syndrome, lymphangioleiomyomatosis/tuberous sclerosis complex (LAM-TSC), and sarcoidosis) was described. We speculated that the dysregulation of the pathway involving mTOR and MAPK and their interaction might play a role in the pathogenesis of diseases other than TSC, including sarcoidosis. In the last part of PhD project, the serum levels of VEGF-D, VEGF-C, MMP-2 and MMP-7 were assessed in a cohort of patients affected with S-LAM and TSC with and without LAM. Our results showed that VEGF-D, MMP-2 and MMP7 were higher in patients with LAM than in patients without. VEGF-D was confirmed as the biomarkers with the highest accuracy for LAM diagnosis. MMP-2 and MMP-7 could be a promising biomarker of LAM.
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