Objective: Most new confirmed cases in our country consist of young people in the 20-35 age group, which corresponds to the reproductive age in women. This study evaluated the impact of diagnosing and treating human immunodeficiency virus (HIV) during pregnancy on vertical transmission and birth outcomes.
Methods: This multicentred descriptive study assessed the pregnancy and delivery process, prevention and treatment practices, breastfeeding and perinatal transmission rate.
Results: Of the 55 pregnancies in women living with HIV, only 58.2% had HIV status, 81.2% were under antiretroviral therapy, and 46.2% needed treatment change. Lamivudine/zidovudine + lopinavir/ritonavir (32.7%) and tenofovir/emtricitabine + lopinavir/ritonavir (24.5%) were the two most used regiments. The mean duration of treatment in women starting the treatment during pregnancy was 19.5±7.9 weeks. Viral suppression at the delivery was similar among women who initiated treatment before and during pregnancy (p=0.659). Additionally, 89.1% of women were undetectable status (<50 copies/mL); however, 2% of them had >400 copies/mL at the delivery, and three newborns (5.5%) had HIV infections. None of the newborns had congenital anomalies.
Conclusion: Our study findings revealed that addressing HIV status within routine pregnancy follow-ups and providing effective treatment before or starting from the early stage of the pregnancy have a crucial effect on protecting from the vertical transmission.

Objective: The current study determines the causes of mortality in cases of human immunodeficiency virus/ acquired immunodeficiency syndrome (HIV/AIDS) in a developing country where there is no difficulty in accessing antiretroviral therapy and to determine the measures that can be taken to reduce mortality.
Methods: The study was conducted between 2003 and 2018. Patient data were extracted from patient files until 2007 and, after that date, from patient files and hospital information software. The cause of mortality was determined based on the patients’ complaints at admission, clinical, radiological, microbiological, and pathological findings. The causes of mortality were studied in three groups as “HIV-related”, “HIV-associated” and “other.”
Results: The study enrolled 31 (10.8%) cases resulting in mortality from 287 patients followed up in our outpatient clinic. The average age of the cases was 47 (25-68) years and 27 (90%) of them were men. The cause of death of most of our patients was opportunistic infections, notably disseminated tuberculosis. Among the malignancies, AIDS-defining ones such as lymphoma and Kaposi's sarcoma were identified as the most common causes of death.
Conclusion: Deaths were most frequently caused by “HIV-related” causes such as AIDS-related opportunistic infection and AIDS-defining malignancies. For an early diagnosis of HIV/AIDS, more efforts should be made to screen risk groups and keep diagnosed patients in follow-up and treatment.

Objective: Refractive errors and their inappropriate correction may not only lead to deterioration visual acuity (VA) but also deteriorate binocular functions and then lead to strabismus since the binocular single vision (BOV) and VA are important in ensuring the parallelism of the eyes. In this study, we evaluated the changes in best corrected visual acuity (BCVA), BOV and refraction in anisohypermetropic children.
Methods: The records of anisohypermetropic children who were followed up between January 1999 and June 2019 were retrospectively reviewed. Detailed ophthalmological examination findings of the initial and last control with at least one year follow-up were obtained. BCVA was determined by the Snellen-chart letters and transformed to the logarithm of the minimum angle of resolution (logMAR). Binocular vision functions were evaluated using the Titmus and Worth 4-dot tests. The changes in BCVA, BOV and refraction were evaluated.
Results: Seventy-one patients were included in the study. While 39 patients were male, 32 patients were female. The mean age of patients was 74.31±40.51 (24-180) months at the first admission, the mean follow-up time was 67.75±47.8 (12-204) months. Amblyopia was seen in 68 (95.77%) eyes with higher refractive error and 38 (53.52%) eyes with lower refractive error at the first examination. The median BCVA of the eye with higher refractive error was 0.52 logMAR at the first examination and 0.10 logMAR for the last control (p<0.001). The median BCVA of the eye with lower refractive error was 0.10 logMAR at the first examination and 0.00 logMAR at the last control (p<0.001). BOV was detected in 7 patients (9.9%) at the first examination, while BOV vision was detected in 22 (31%) patients at the last examination (p<0.001).
Conclusion: The results show the importance of close follow-up and early treatment in anisometropic cases because of the negative influence of anisometropia on visual functions.

Amaç: Astım, çocukluk çağı kronik hastalıkları arasında en sık görülen ve reversibl hava yolu obstrüksiyonu ile karakterize enflamatuvar bir hastalıktır. Çalışmamızda astım tanısı kesinleştirilen çocukların ilk kez astım semptomlarının hangi yaşta başladığının ve ailelerin ilk kez çocuklarının tanısı ile ilgili ne zaman bilgilendirildiklerinin belirlenmesi, dolayısıyla hastaların kesin astım tanısı almaları için geçen sürenin tespit edilmesi amaçlanmıştır.
Yöntem: Kesitsel çalışmamıza, Nisan 2010-Mart 2019 tarihleri arasında İzmir Sağlık Bilimleri Üniversitesi, Dr. Behçet Uz Çocuk Hastalıkları ve Cerrahisi Eğitim ve Araştırma Hastanesi ile Balıkesir Üniversitesi Tıp Fakültesi, Çocuk Alerji Poliklinikleri'mizde takipli, astım tanısı solunum fonksiyon testinde reversibilite ile kanıtlanmış 6-18 yaşları arasındaki hastalar dahil edildi. Poliklinik başvuruları sırasında, 1 Ağustos-1 Aralık 2019 tarihleri arasında ebeveynleri ile çalışmaya dahil edilmeleri için görüşülenler ve olgu sorgulama formunu doldurmayı kabul edenler çalışmaya dahil edildi.
Bulgular: Hastaların astım tanısı alma yaşı ise ortalama 7,19±3,07 yıl olarak tespit edildi. Çocukların ilk öksürük ataklarının kesin astım tanısı almadan ortalama 3,7±2,6 yıl önce ortaya çıktığı, ilk nefes darlığı/hışıltı şikayetlerinin ortalama 3,4±2,6 yıl önce, sık hastalanma dönemlerinin ortalama 3,7±2,5 yıl önce ve ilk nebülizer/inhaler tedavi alma zamanının ortalama 3,1±2,6 yıl önce ortaya çıktığı belirlendi. Nonatopik astım tanılı çocuklarda ilk semptomların ortaya çıkması ile astım tanısı konulana kadar geçen sürenin atopiklere göre anlamlı olarak daha kısa olduğu tespit edildi.
Sonuç: Astım tanısı kesinleştirilen çocukların ilk kez astım semptomlarının, astım tanısından, daha erken yaşta başladığı ve tanıda bir gecikme yaşandığı görülmektedir. Bu nedenle kontrol edici tedavi gecikmekte, uzun dönem prognoz ve yaşam kalitesi etkilenmektedir.

Objective: Asthma is the most common childhood chronic disease characterized by reversible airway obstruction. We aimed to determine the age of onset of asthma symptoms and when families were informed about the diagnosis of their children for the first time and the time it took for patients to get a definitive diagnosis of asthma.
Methods: Our cross-sectional study was conducted between April 2010 and March 2019 in İzmir University of Health Sciences Turkey, Dr. Behçet Uz Pediatric Diseases and Surgery Training and Research Hospital and Balıkesir University Faculty of Medicine, between the ages of 4-18 years, who were followed-up in our Outpatient Clinics of Pediatric Allergy with a diagnosis of asthma, proved by reversibility in pulmonary function test were included. Those interviewed with their parents for inclusion in the study between August 1 and December 1, 2019 and those who accepted to fill out the case inquiry form were included in the study.
Results: The mean age of diagnosis of asthma was 7.19±3.07 years. The mean age of first cough attacks was 3.7±2.6 years, the mean age of the first shortness of breath/wheezing complaints was 3.4±2.6 years. The mean age of the first initial history of frequent respiratory infection periods was 3.7±2.5 years and it was determined that the mean age of first nebulizer/inhaler treatment was 3.1±2.6 years ago before they were diagnosed with asthma. Also, we found the period between the first symptoms and diagnosis asthma was significantly shorter in children with nonatopic asthma compared to atopic asthma.
Conclusion: In children who diagnoses with asthma, the first symptoms start early ages and there was a delay in diagnosing asthma. Therefore, controlling treatment is delayed, long-term prognosis and quality of life are affected.

Amaç: Türkiye depremlerin sık meydana geldiği ülkelerden biridir. Bu çalışmanın amacı 30 Ekim 2020 tarihli İzmir depremi sonrası Sağlık Bilimleri Üniversitesi Tepecik Eğitim ve Araştırma Hastanesi Erişkin ve Çocuk Acil Kliniklerine depremden zarar görme şikayeti ile başvuran hastaların klinik özelliklerinin ve sonlanışlarının incelenmesidir.
Yöntem: Çalışmaya 30.10.2020-05.11.2020 tarihleri arasında Sağlık Bilimleri Üniversitesi Tepecik Eğitim ve Araştırma Hastanesi Erişkin ve Çocuk Acil Kliniklerine depremden zarar görme şikayeti ile başvuran hastalar dahil edildi. Hastalara ait demografik bilgiler, istenen laboratuvar ve görüntüleme tetkikleri, uygulanan tedaviler, istenen konsültasyonlar, son tanılar, acil servis sonlanışları ve yatırıldıkları servislerdeki klinik durumları ile ilgili bilgiler hastane otomasyon sisteminden geriye dönük olarak incelendi.
Bulgular: Hastanemiz acil servislerine toplam 115 depremzede başvurusu oldu. Hastaların %74’ü (n=85) depremden sonraki 24 saat içinde başvurdu. Acil serviste en sık tespit edilen tanı yumuşak doku travması (n=79, %68,7) oldu. Acil serviste en sık uygulanan tedavi bandaj, alçı ve atel işlemleri, en sık konsültasyon istenen klinik Ortopedi ve Travmatoloji Kliniği idi. Hastaneye yatış oranı %9,6 (n=11) olarak tespit edildi. Acil serviste ölen hasta olmazken, yatan hastalardan biri hayatını kaybetti.
Sonuç: Deprem sonrası hastane başvuruları sıklıkla ilk 24 saat içinde olmakta ve etkilenen olguların hemen tamamı acil servislerde değerlendirilmektedir. Yaralanmalar sıklıkla basit yumuşak doku travması şeklinde olmakla birlikte mortalite ile sonuçlanabilecek ezilme (crush) sendromu da akılda tutulmalıdır.

Objective: Turkey is a country where earthquakes occur frequently. The aim of this study was to examine the clinical characteristics and outcomes of patients who applied to the adult and pediatric emergency departments of Health Sciences University Turkey, İzmir Tepecik Education and Research Hospital after the İzmir earthquake dated October 30th, 2020, with the disease of earthquake damage.
Methods: Patients who were admitted to the Adult and Pediatric Emergency Departments of Health Sciences University Turkey, İzmir Tepecik Education and Research Hospital between 30.10.2020-05.11.2020 with the complaint of earthquake injury were included in the study. The demographic information of the patients, laboratory and imaging tests, treatments, consultations, diagnoses, emergency department outcomes and clinical conditions in the hospitals were analyzed retrospectively from the hospital automation system.
Results: A total of 115 earthquake victims were admitted to the emergency departments of our hospital. 74% of the patients (n=85) admitted within 24 h after the earthquake. The most common diagnosis in the emergency department was soft tissue trauma (n=79, 68.7%). The most common treatments applied in the emergency department were bandages, plaster and splint procedures, the most common consultation requested was Orthopedics and Traumatology. The rate of hospitalization was 9.6% (n=11). While no patient died in the emergency department, one of the hospitalized patients died.
Conclusion: Hospital admissions are frequently made within the first 24 h after an earthquake and almost all the victims are evaluated in the emergency departments. Although the injuries are often in the form of simple soft tissue injuries, crush syndrome that may result in mortality, should also be kept in mind.

Amaç: Yenidoğanlarda hipoksi ve stres durumunda laktat düzeyi yükselmektedir. Tiyol ise hücrelerde herhangi bir oksidatif stres durumunun oluşumunu önlemede kritik role sahip organik bir bileşiktir. Fetal distress bulgusu olmayan ve farklı doğum şekilleri ile doğan term yenidoğanlarda yeni bir oksidatif stres parametresi olan tiyol-disülfit dengesinin laktat düzeyi ile ilişkisini göstermeyi amaçladık.
Yöntem: Bu prospektif çalışmaya canlı doğan 60 term yenidoğan bebek dahil edildi. Term yenidoğanlar doğum şekline göre vajinal doğum (VD; n=21) ve sezaryen doğum (SD; n=39) olmak üzere 2 gruba ayrıldı. Doğumu takiben umblikal korddan alınan kan örneğinde kan gazı parametreleri ve tiyol-disülfit dengesi analiz edildi. Yenidoğanlar laktat düzeyine göre de, laktat >4 mmol/L ve laktat ≤4 mmol/L olarak iki gruba ayrılarak subgrup analizi yapıldı.
Bulgular: Doğum ağırlığı, gebelik haftası, Apgar skoru her iki doğum grubunda benzerdi. VD grubunun laktat, nativ tiyol, total tiyol, disülfit ve albumin düzeyleri SD grubuna göre istatiksel olarak anlamlı yüksekti. Laktat düzeyleri ile kordon kanı disülfit (r=0,408 ve p<0,001) arasında pozitif korelasyon, kordon kanı pH (r=-0,461 ve p<0,001) ve baz açığı (r=-0,471 ve p<0,001) arasında negatif korelasyon tespit edildi. Laktat >4 mmol/L olan subgrupta disülfit düzeyi anlamlı olarak yüksek saptandı.
Sonuç: Bu çalışma kordon kanında laktat düzeyi ile tiyol-disülfit homeostazı arasında anlamlı bir korelasyon olduğunu gösteren alanındaki az çalışmadan biridir. Tiyol-disülfit parametreleri ve özellikle laktat ile pozitif korelasyonu saptanan disülfit düzeyi, yenidoğanlarda oksidatif stresin değerlendirilmesinde alternatif bir biyobelirteç olarak kullanılabilir.

Objective: In the human fetus, an increased lactate level can is anticipated due to hypoxia and stress. Thiol-disulfide homeostasis is essential for the body to maintain effective antioxidant defense mechanisms. We showed the relationship between thiol-disulfide homeostasis and lactate levels in newborns without fetal distress.
Methods: In this prospective study, the participants were grouped according to the mode of delivery: Vaginal delivery group (n=21) and cesarean group (n=39). Serum samples were collected from the cord blood and pH, base excess, lactate levels and thiol-disulfide homeostasis in cord blood were determined in both groups of newborn. Cut-off values for lactate were taken as 4 mmol/L. Above this value is defined as a high lactate level. Infants were also divided into two groups according to lactate levels as group I: lactate levels more than 4 mmol/L and group II: lactate levels ≤4 mmol/L.
Results: Birthweight, gestational age, the first minute and the fifth minute Apgar score were having no difference in both groups. There were significant correlations between lactate levels and cord blood native thiol (r=-0.461 and p<0.001), lactate levels and cord blood total thiol (r=-0.453 and p<0.001).
Conclusion: High lactate levels are multifactorial and usually indicate impairment of tissue perfusion. Our study is one of the rare studies on this subject; it was shown that lactate levels showed were significantly correlated with cord blood native thiol and total thiol. The related parameters might be new markers for the diagnosis of tissue hypoxia in newborn.

Amaç: Koronavirüs hastalığı-2019 (COVID-19) pandemisi, hem tüm sağlık sistemlerinin hem de cerrahi kliniklerininin yönetimini zorlaştırmıştır. Genel cerrahi klinikleri yeniden yapılandırılmıştır. Bu çalışmada kurumumuzda, pandeminin erken döneminde genel cerrahi kliniğindeki elektif kanser cerrahisi ve acil genel cerrahi hastalarının yönetimiyle ilgili sonuçlarımızı sunmaktayız.
Yöntem: Kliniğimizde 11 Mart 2020 ile 1 Haziran 2020 tarihleri arasında takip edilen tüm hastalar (covid dönemi) çalışmaya alındı. Karşılaştırma grubunda geçen yılın aynı döneminde (non-covid dönem) takip edilen acil olgular ve elektif kanser olguları yer aldı.
Bulgular: Pandemi döneminde pandemi ve non-pandemi hastanelerimizde toplam 173 hasta takip edildi. %44,5’si onkoloji, %55,5’i acil olgulardı. Geçen yıla göre tüm hastaların ortalama hastanede yatış süresi anlamlı olarak daha kısaydı. Pandemi döneminde, geçen yıla göre komplikasyon ve mortalite gelişimi açısından anlamlı bir fark yoktu. COVID-19 döneminde acil yapılan ameliyatların en sık nedeni akut apandisit olguları, onkolojik ameliyatların en sık nedeniyse meme kanseriydi. Pandemi döneminde özellikle acil travma vakalarının ve onkolojik tiroid kanseri ameliyatlarının sayısında önemli bir düşüş mevcuttu.
Sonuç: Pandemi dönemlerinde “pandemi hastanesi” ve “non-pandemi hastanesi” kurulmalı ve sağlık personeli çalışma düzeni buna göre ayarlanmalıdır. Kurumumuzda bu yapılanmaya hızlıca gidilmiş ve pandeminin erken dönem sonuçları incelendiğinde başarılı bir organizasyon kurulmuştur.

Objective: The Coronavirus disease-2019 (COVID-19) pandemic has made it difficult to manage both all healthcare systems and surgical clinics. General surgery clinics have been restructured. In this study, we present our results regarding the management of elective cancer surgery and emergency general surgery patients in the general surgery clinic in the early phase of the pandemic.
Methods: All patients (covid period) followed in our clinic between March 11, 2020 and June 1, 2020 were included in the study. Emergency cases and elective cancer cases were followed up in the same period last year (non-covid period) in the comparison group.
Results: A total of 173 patients were followed up in our pandemic and non-pandemic hospitals during the pandemic period. 44.5% were oncology, 55.5% were emergency cases. The average length of stay in the hospital was significantly shorter for all patients compared to last year. During the pandemic period, there was no significant difference in terms of complications and mortality development compared to the previous year. In the COVID-19 period, the most common reason for emergency operations was acute appendicitis cases, and the most common cause of oncological surgery was breast cancer. During the pandemic period, there was a significant decrease in the number of emergency trauma cases and oncological thyroid cancer surgeries.
Conclusion: During pandemic periods, “pandemic hospital” and “non-pandemic hospital” should be established and health personnel working order should be adjusted accordingly. At our institution, this structure was been created quickly and a successful organization has been established when the early results of the pandemic are examined.

Amaç: Çalışmada mental retardasyon, gelişim geriliği, otizm ve farklı dismorfik bulguları olan 9 pediatrik hastanın array karşılaştırmalı genomik hibridizasyon (aCGH) sonuçları retrospektif olarak değerlendirilmiştir.
Yöntem: Tüm olgularda periferik kan örneklerinden kromozom analizi ve aCGH analizi yapılmıştır.
Bulgular: Tüm olgularda kromozom analizi sonuçları normal olarak saptanmıştır. aCGH analizi sonuçlarında ise, 5 olguda kromozomal bölge kaybı (1p33/7q11.23/10q25.3q26.13/15 q11.2/22q11.21), 3 olguda kromozomal bölge artışı (2p15/6q22.31/Xp22.2), 1 olguda 7q11.23 kromozomal kaybı, 9p24.3 ve 22q11.22 kromozomal bölgelerinde artış birlikte saptanmıştır.
Sonuç: Ailesel kromozom anomalisi ve dismorfik özellikleri nedeniyle kolayca tanınan konjenital malformasyon sendromları dışında, mental retardasyon, otizm ve konjenital anomalilerde aCGH analizi diyagnostik çözünürlüğü yüksek olan bir birinci basamak testtir.

Objective: In this study, array comparative genomic hybridization (aCGH) results of 9 pediatric patients with mental retardation, developmental retardation, autism and different dysmorphic findings were evaluated retrospectively.
Methods: Chromosome analysis and aCGH analysis were performed from peripheral blood samples in all cases.
Results: Chromosome analysis results were normal in all cases. In aCGH analysis results, chromosomal region losses in 5 cases (1p33/7q11.23/10q25.3q26.13/15 q11.2/22q11.21), chromosomal region gains in 3 cases (2p15/ 6q22.31/Xp22.2), 7q11.23 chromosomal loss, gains in 9p24.3 and 22q11.22 chromosomal regions were detected together in 1 case.
Conclusion: Except for familial chromosome anomalies and congenital malformation syndromes that are easily recognized due to dysmorphic features, aCGH analysis is a first-step test with high diagnostic resolution in mental retardation, autism and congenital anomalies.

Amaç: Bu çalışmanın amacı infantil koliği olan bebeklerin annelerinin deneyimlerinin incelenmesi ile infantil kolik etiyolojisi, annenin bebeğinde görülen infantil koliği ortadan kaldırmak için uygulanan girişimler ve etkileri konusunda bilgi sahibi olunmasıdır.
Yöntem: Araştırma tanımlayıcı tipte, kesitsel olarak yapılmıştır. Bu çalışma, bir eğitim ve araştırma hastanesinin sağlıklı çocuk polikliniğine bebeğini muayeneye getiren, 0-6 aylık infantil kolik bebeği olan, gönüllü olarak araştırmaya katılmayı kabul eden 140 anne ile yürütülmüştür. Araştırmanın verileri Anne Bebek Bilgi Formu kullanılarak toplanmıştır.
Bulgular: Annelerin %65’i (n=91) emzirme döneminde bazı besinlerden kaçındığını, besinden kaçınma davranışı sonrası bebeklerin %56,7’sinin (n=51) kolik ağrılarında azalma olduğu saptanmıştır. Annelerin %71,1'inin (n=101) kolik tedavisi için bebeklerine farmakolojik bir yöntem uyguladığı, en çok kullandığı ilaç türünün simeticon olduğu (%39,6, n=40) görülmüştür. Annelerin %88,6'sının (n=124) kolik tedavisi için bebeklerine non-farmakolojik bir yöntem uyguladığı, en çok kullandığı non-farmakolojik yöntemin masaj uygulaması olduğu (%45,2 n=56) görülmüştür. Çalışmaya katılan annelerin koliğin azaltılması amacıyla kullandıkları non-farmakolojik yöntemler ile bu yöntemlerin etkinliği arasındaki ilişki değerlendirildiğinde, bebeklerine masaj uygulayan anneler, uygulama sonrasında bebeklerinin durumunda değişiklik olduğunu bildirmişlerdir (χ2=7,513; p=,023).
Sonuç: İnfantil kolik tedavisinde annelerin büyük çoğunluğunun tıbbi ve tamamlayıcı tedavileri birlikte kullandığı ve tamamlayıcı tedavilerden yararlanan annelerin oranının medikal tedaviye göre daha yüksek olduğu görülmüştür.

Objective: This study aims to examine the experiences of mothers of infants with infantile colic and to obtain information about the etiology of infantile colic, the attempts to eliminate infantile colic and its effects on the mother and baby.
Methods: The research was conducted in a descriptive, cross-sectional designer. This study was conducted with 140 mothers who voluntarily agreed to participate in the study, who brought their babies to the healthy pediatric outpatient clinic of a training and research hospital, had a 0-6-month-old infantile colic baby. Research data; was collected using the Mother Baby Information Form.
Results: It was found that 65% (n=91) of the mothers avoided certain foods during the breastfeeding period, and 56.7% (n=51) of the babies had a decrease in colic pain after the food avoidance behavior. It was observed that 72.1% (n=101) of the mothers applied a pharmacological method to their babies for treating colic, and the most used drug type was simeticon (39.6%, n=40). It was observed that 88.6% (n=124) of the mothers applied a nonpharmacological method to their babies for treating colic, and the most used non-pharmacological method was massage (45.2% n=56). When the relationship between non-pharmacological methods used by mothers participating in the study to reduce colic and the effectiveness of these methods was evaluated, mothers who applied massage to their babies reported that there was a change in the condition of their babies after the application (χ2=7.513; p =.023).
Conclusion: The treatment of infantile colic, it was observed that most mothers used medical and complementary therapies together and the rate of mothers who benefited from complementary therapies was higher than medical treatment.

Amaç: Sağlık sektöründe yaşanan şiddetin sayısı ve ciddiyeti her geçen gün artmaktadır. Sağlık sektöründe şiddet konusunda yapılan birçok çalışmada hastanelerde çalışan güvenlik ve destek hizmetleri personeli görmezden gelinmiştir. Ancak bu kişiler de önemli ölçüde şiddete maruz kalmaktadır. Bu çalışmanın amacı, acil servis (AS) ve diğer sağlık birimlerinde çalışan güvenlik ve destek hizmetleri personelinin maruz kaldığı şiddetin sıklığını ve özelliklerini araştırmaktır.
Yöntem: Anket tabanlı, kesitsel ve tanımlayıcı bir çalışmadır. Çalışmaya güvenlik ve destek hizmetleri personelleri (veri-giriş, temizlik, hasta taşıma personelleri) dahil edildi. Araştırmacılar anket formunu yüz yüze doldurdu. Bu çalışmada şiddet dört kategoride incelenmiştir: Fiziksel, sözlü, psikolojik ve cinsel şiddet.
Bulgular: Katılmayı kabul eden 439 gönüllü çalışmaya dahil edildi. Çalışma hayatı boyunca en az bir kez şiddete maruz kalanların sayısı 283 (%64,5), son bir yıl içinde şiddete maruz kalanların sayısı 220 (%50,1) idi. Son bir yıl içinde herhangi bir şiddete maruz kalma oranı güvenlik personelleri için %75,7, hasta taşıma personelleri için %42,9, temizlik personellleri için %32,5 ve veri girişi personelleri için %47,5 olarak tespit edildi. Güvenlik görevlisi olmak ve AS’de çalışmak şiddete maruz kalmanın en önemli faktörleri olarak belirlendi. Katılımcılar (n=335,%76,3) sağlık kuruluşlarındaki şiddetin artmasının nedeninin en çok “hastanelerdeki yoğunluk/kalabalık ve buna bağlı uzun bekleme süreleri” olduğunu belirtmişlerdir. AS’de çalışanlarda şiddete maruz kalma kaygısı diğer birimlerde çalışanlara göre daha yüksek tespit edildi (Likert tipi ölçekte 5 puan; %36,1’e %23,7; p=0,033).
Sonuç: Güvenlik ve destek hizmetleri personeli de sıklıkla şiddete maruz kalmaktadır. Personelin maruz kaldığı şiddeti en aza indirmek için alınacak önlemler arasında caydırıcı ve daha sert cezalar olmalı ve derhal uygulanmalıdır.

Objective: The number and severity of violence in the health sector are increasing day by day. In many studies on violence in the healthcare sector, security and support service staff working in hospitals have been ignored. However, these people are also exposed to violence significantly. This study’s primary purpose is to determine the frequency and characteristics of violence that the security and support service staffs are exposed to in the emergency department (ED) and other healthcare units.
Methods: This is a survey based, cross-sectional and descriptive study. Security staff and support services staff (data-entry clerk, cleaning, and patient transfer) were included in the study. Surveyors filled out the survey form face-to-face method. The violence was analyzed in four categories in this study: Physical, verbal, psychological, and sexual violence.
Results: After agreeing to participate, 439 volunteers included the study. The number of participants exposed to violence at least once during their work-life was 283 (64.5%), and exposed in the last year was 220 (50.1%). The rate of exposure to any violence in the last year was 75.7% for security staff, 42.9% for patient transfer staff, 32.5% for cleaning staff, and 47.5% for data-entry clerks. Being a security guard and working in the ED were identified as the most important factors for exposure to violence. Participants (n=335, 76.3%) mostly stated that the reason for the increase in violence in healthcare settings is the “density/crowd in hospitals and the related long waiting durations”. The anxiety level about being exposed to violence while working was found to be higher in the ED staff (5 points on Likert type scale; 36.1% versus 23.7%; p=0.033).
Conclusion: The security and support service staff are frequently exposed to violence. Cautions should be taken to minimize the violence to which the staff is exposed; harsher punishments should be deterrent and applied immediately.

Objective: Low back pain is the fifth most common reason for visiting a family physician. Only in the 15% of the patients there is a reason to explain the reason for low back pain. This study aimed to evaluate the knowledge of the family medicine research assistants’ approach to the low back pain in primary care.
Methods: The universe of this descriptive cross-sectional study consisted of 161 family medicine research assistants in İzmir. After obtaining written consent, a questionnaire consisting of 20 questions evaluating their demographic information, general information about low back pain, physical examination findings and clinical information was applied to the participants. Statistical analysis of data was performed using SPSS version 22.
Results: A total of 114 assistants were included in the study with a mean age of 29.18±3.020 years. Twenty three (20.2%) of them had made the physical treatment and rehabilitation rotation while with the increase in working years as a physician the number of correct answers is decreasing. The number of correct answers increased with the increase in the working years in the family medicine specialization program and with rotation in physical treatment and rehabilitation. There was no statistically significant difference between the correct answers given according to the profession, year in the specialization program and physical treatment and rehabilitation rotation (p>0.05).
Conclusion: Family medicine research assistants should be encouraged to perform physical therapy and rehabilitation rotation, and physicians should be provided vocational training at certain periods after their graduation.

Objective: The surgical site infection (SSI) is one of the most common healthcare-associated infections in hospitalized patients. However, the most important factor in reducing SSIs is the appropriate selection of antimicrobial prophylaxis. Our aim was to evaluate the surgeons’ attitudes toward preoperative antimicrobial prophylaxis.
Methods: A set of questions were organized on Google Docs’ form by creating a survey to determine the surgeons’ preoperative surgical prophylaxis approaches. Survey links were delivered to the surgeons online. Their answers were recorded on the Google Questionnaire and analyzed with Microsoft Excel and SPSS 15.
Results: A total of 111 surgeons participated in the study. Forty nine of the surgeons (44.1%) stated that they did not receive preoperative antibiotic prophylaxis training. Eighty-one surgeons (73.1%) stated that they used preoperative antibiotic prophylaxis to prevent surgical site-related morbidity. It was determined that 94 surgeons (84.7%) used cefazolin for antibiotic prophylaxis. In case of allergy to cefazolin, ciprofloxacin was the antibiotic preferred by 40 surgeons (36.7%). Fifty-two of the surgeons (46.8%) applied the antibiotics they used for prophylaxis only for 24 h. Seventy one of the surgeons (64%) said that they were informed on SSI surveillance by the Infection Control Committee in their hospitals and 40 of them (36%) stated otherwise.
Conclusion: The results of the study indicate that all physicians in surgical branches should be informed about the importance of preoperative antibiotic prophylaxis and the application recommendations of the guidelines.

Objective: Left ventricular ejection fraction (LVEF) measurement through transthoracic echocardiography is the recommended parameter for evaluating LV systolic functions. This retrospective study aimed to evaluate the association of LVEF with inflammatory biomarkers and indexes including neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), systemic immune-inflammation index (SII) and systemic inflammation response index (SIRI).
Methods: After the application of exclusion criteria, 854 patients remained for statistical analyses. NLR, PLR, SII and SIRI were calculated from admission complete blood count test. Patients with LVEF ≥50% were defined as preserved LVEF (pLVEF), LVEF 41-49% mildly reduced LVEF (mrLVEF) and LVEF ≤40% reduced LVEF (rLVEF). LVEF <50% was defined as impaired LVEF.
Results: Patients were classified into three groups with respect to their LVEF namely pLVEF (n=784), mrLVEF (n=24) and rLVEF (n=46). PLR and SII levels were comparable between groups. Patients with mrLVEF and rLVEF had higher NLR and SIRI levels compared to pLVEF patients. The area under the curve (AUC) values for NLR, PLR, SII and SIRI to predict impaired LVEF were 0.59, 0.54, 0.55, and 0.63, respectively. The AUC values for NLR, PLR, SII and SIRI for predicting mrLVEF were 0.61, 0.55, 0.55, and 0.65, respectively. The AUC values for NLR, PLR, SII and SIRI to predicting rLVEF were 0.58, 0.53, 0.54, and 0.61, respectively. Multivariate regression analysis revealed age, coronary artery disease (CAD) and SIRI (odds ratio: 1.39, 95% confidence interval (CI): 1.09-1.76, p=0.007) as independent predictors of impaired LVEF. Multinomial logistic regression analysis performed for evaluating predictors of mrLVEF and rLVEF in contrast to pLVEF demonstrated that CAD independently predicts mrLVEF, whereas CAD and SIRI (odds ratio: 1.42, 95% CI: 1.09-1.84, p=0.009) are independent predictors of rLVEF.
Conclusion: SIRI is a novel biomarker that is associated with impaired LVEF and rLVEF but not mrLVEF.

Objective: Childhood cancers are a relatively rare group of diseases. In addition to conventional treatment, the use of alternative medicine methods is increasing. Especially during the diagnostic and treatment process, families ask doctors about alternative medicine practices. In this study, we evaluated the knowledge and opinions of the parents of childhood cancer patients about alternative medicine methods.
Methods: The volunteer parents of patients were interviewed and a questionnaire was applied to them. They were asked about which alternative medicine practices they had information about, where they had information about these practices, and what they thought about.
Results: A total of 135 people participated; the parents of children who were treated at the Dokuz Eylül University and University of Health Sciences Turkey, İzmir Tepecik Education and Research Hospital Pediatric Oncology Clinics in İzmir. They completed a questionnaire about their opinions and knowledge about alternative medicine methods. 80% of the respondents stated that they had heard about alternative medicine before and 60% of them stated that they were recommended alternative methods at any time of treatment. We found that 21.5% of the respondents used alternative methods. The most commonly used methods were herbal cures, propolis, donkey milk, turtle blood, silver water, kefir, reiki mushrooms.
Conclusion: The methods known by the participants were in a wide range. We have seen that parents with a higher education level are more inclined toward alternative medicine methods. We concluded that we should evaluate the tendency of patients to alternative medicine methods and guide them correctly.

Objective: Social phobia is the name given to intense feelings of anxiety, fear, self-awareness and shame that arise due of the fear of being observed or judged by others in the process of daily normal interactions. Clinicians also need to be successful in managing their social phobias due to their profession.
Methods: Therefore, 151 medical school students were asked about their socio-demographic characteristics and Liebowitz Social Avoidance Scale via e-survey.
Results: The results showed that the place where the students lived and the period they studied made a significant difference in the level of social phobia of medical school students. Social phobia scale scores of term 1 students were found to be significantly higher than those of term 3 students. Additionally, the social phobia scale scores of the term 1 students were found to be significantly higher than the term 4 students; and the social phobia scale scores of the term 2 students were found to be significantly higher than the term 3 students. Again, according to the data of our study: It was seen that the social phobia scale scores of those who stayed in private dormitories were significantly higher than those who stayed in their own house. Additionally, those who stayed with their families had a significantly higher social phobia scale score than those who stayed in their own house.
Conclusion: There are very few studies in the literature on the frequency of social phobia among medical school students. We believe that the results of our study will contribute to the literature.

Objective: The proteome is all the proteins produced or modified by an organism or system. Proteomics, which is an important component of functional genomics, describes the detection and characterization of a complete set of proteins present in a cell, organ, or organism at a given time. The katanin-like 2 (KATNAL2) gene encodes a protein with a microtubule-severing function, based on studies in cell cultures and lower organisms. However, there are no functional studies investigating the function of this gene in humans, yet. In this study, we aimed to perform proteomic analysis to investigate the effects of the variant in the KATNAL2 gene on the binding of various proteins to microtubules in the fibroblasts of a patient with epilepsy, autistic symptoms and intellectual disability with a homozygous pathogenic variant in the KATNAL2 gene.
Methods: Fibroblasts obtained from the patient by skin biopsy were grown in cell culture and protein isolation was performed from them. Following pelleting of microtubules and associated proteins, proteomic analysis was performed using liquid chromatography followed by tandem mass spectrometry.
Results: Quantitative data analysis was performed using the SAINTexpress tool on 5 different fractions cut from the gel, identifying 1246 proteins, 38 of which differentially bound to microtubules between patient and control cells. The data obtained from the proteomic and the bioinformatic analyzes indicate that because of the mutation in the KATNAL2 gene in the patient, the extracellular matrix proteins such as collagens that interact with the cytoskeleton are organized differently from those in normal cells.
Conclusion: Here, we leveraged the power of proteomics to identify the altered interactome of the microtubules in skin fibroblasts with a missense mutation in KATNAL2. Our results point to altered extracellular matrix-cell interactions in KATNAL2-mutant fibroblasts.

Ciddi solunum sistemi sendromuna neden olan yeni Koronavirüs hastalığı-2019 (COVID-19) enfeksiyonu salgını, 11 Mart 2020 tarihinde Dünya Sağlık Örgütü tarafından pandemi olarak ilan edildi. Palyatif bakım merkezleri, pandemi gibi kriz durumlarında sağlık bakımının önemli bileşenleridir. Böyle bir kriz sırasında, palyatif bakım kliniklerinin işlevleri ve pandeminin palyatif bakım hizmetleri üzerindeki etkisi ile ilgili veriler sınırlıdır. Birçok sağlık kurumunda katı temizlik ve enfeksiyon kontrol önlemlerinin alındığı mevcut pandemi devam ederken, palyatif bakım hastalarına iyi bakım hizmetleri verilmeye devam edilmeli, şiddetli akut solunum yolu sendromu Koronavirüs-2 ile enfekte olan palyatif hastalarının ihtiyaçları dikkate alınmalıdır. Bu makalede, COVID-19 pandemisi ile mücadele etmek üzere Türkiye Cumhuriyeti Sağlık Bakanlığı’nın sağlık kurumlarındaki kliniklerin işleyişi ile ilgili önerileri doğrultusunda, Sağlık Bilimleri Üniversitesi, İzmir Tepecik Eğitim ve Araştırma Hastanesi Palyatif Bakım Merkezi’nde gerçekleştirilen sağlık personeli eğitimleri, enfeksiyon kontrol önlemleri ve stratejik planlamalar ele alınmıştır.

The outbreak of novel Koronavirus disease-2019 (COVID-19) infection causing serious respiratory system syndrome has been declared pandemic by the World Health Organization on March 11, 2020. Palliative care centers are important components of the health care system in crises such as pandemics. During such a crisis, data on the functions of palliative care clinics and the impact of the pandemic on palliative care services are limited. As the current pandemic goes on, where strict hygienic and infection control measures are taken in many health services, good care services should be provided to palliative care patients and the needs of palliative patients infected with severe acute respiratory syndrome Coronavirus-2 should be met caution. In this review, in line with the Turkish government guidance concerning the management of clinics of health institutions to fight against the COVID-19 pandemic, training of healthcare team, infection control procedures and strategic planning conducted at the Palliative Care Center of University of Health Sciences Turkey, İzmir Tepecik Education and Research Hospital were discussed.

Günümüzde fungal idrar yolu enfeksiyonlarına (İYE) her yaş grubunda daha sık oranlarda rastlanmaktadır. Ancak kolonizasyon ile enfeksiyonu ayırt etmedeki zorluk, tanı ve tedaviyi zorlaştırmaktadır. Ayrıca hangi hastanın, ne kadar süreyle ve hangi ajanla tedavi edileceğine dair sorular bulunmaktadır. Bazı olgularda sistemik tedavinin yanı sıra lokal irrigasyon da tercih edilebilir. Ciddi hidronefroz ve üriner sistem obstrüksiyonu nedeniyle nefrostomi kateteri (NK) takılmış olan iki çocuk hastanın başvuruları sırasında, birinde ateşli diğerinde ateşsiz İYE saptandı ve idrar kültürlerinde kandidüri üretildi. Sistemik tedaviye rağmen devam eden dirençli kandüriden dolayı NK aracılığıyla amfoterisin B irrigasyonu planlandı. NK, drenaj torbası ve serum infüzyon seti üç yollu musluk ile bağlandı. Amfoterisin B (salin içinde 50 mg/L) renal pelvise gönderildi ve 60 dakika bekletildikten sonra boşaltıldı. Bu prosedür 24 saat/5 gün sürekli olarak gerçekleştirildi. Bu teknikle ikinci bir NK’ye ihtiyaç duyulmadı ve anti-fungal ajanın mesaneye ulaşması için yeterli zaman verilmiş oldu. Dirençli fungal idrar yolları enfeksiyonlarında mantar topu gelişimini önlemek için lokal anti-fungal tedaviler tercih edilebilir. Bu durumlarda, sadece bir NK kullanılarak üriner sistemin anti-fungal irrigasyonu yararlı olabilir.

Nowadays, fungal urinary tract infections (UTI) are encountered more often at all ages. However, the difficulty in distinguishing between colonization and infection complicates diagnosis and treatment. Besides, there are also questions about which patients should be treated using which agent and for how long. In some cases, local irrigation may be preferred, apart from systemic treatment. Two pediatric patients, who both have a nephrostomy tube (NT) inserted due to severe hydronephrosis with urinary system obstruction, were found to have a UTI at the time of admission, one with fever and the other without fever, and candida species were isolated in urine cultures. Since candiduria persists despite systemic treatment, amphotericin B irrigation was planned. The NT was connected to a drainage bag and serum infusion set with a three-way stopcock. Amphotericin B (50 mg/L in saline) was sent into the renal pelvis and left there for an hour, then drained out. The procedure was performed continuously 24-hours a day for five days. By this way, we didn't need to insert a second NT and gave enough time for the anti-fungal agent to reach the bladder. In children with persistent fungal UTI, local anti-fungal therapy may be preferred to prevent fungus ball development. Usage of only one NT for anti-fungal irrigation of urinary tractus may be useful in these cases.

Lenfanjioma sirkumskriptum, deri ve subkütan dokuları etkileyen nadir bir vasküler malformasyondur. Tedavide cerrahi olarak çıkarma; medikal olarak sklerozan ajanların enjeksiyonu, elektrokoter ile ablasyon, karbondioksit lazer, radyo terapi ve kriyoterapi uygulanabilir. On dokuz yaşında kız hasta 3 yıl önce başlayan sağ meme alt iç kadran ile sternum arasında giderek yayılan deriden kabarık kanamalı lezyonlar nedeniyle dermatoloji polikliniğine başvurdu. Lezyondan alınan biyopsi sonucunda hastaya lenfanjioma sirkumskriptum tanısı konuldu. Lezyon cerrahi olarak eksize edildi. Genellikle ağız mukozası, dil, alt ve üst ekstremitelerin gövdeye yakın alanlarında, kasık, koltukaltı ve göğüs bölgesinde lokalize olan lenfanjioma sirkumskriptum olgumuzda sağ meme iç kadran ile sternum arasında tespit edilmiştir. Yerleşim yeri ve ortaya çıkma yaşı açısından nadir karşılaşılan olgumuzun bu açılardan literatüre katkı sağlayacağına inanıyoruz.

Lymphangioma circumscriptum is a rare vascular malformation that affects the skin and subcutaneous tissues. Surgical removal in treatment; injection of sclerosing agents, ablation with electrocautery, carbon dioxide laser, radiotherapy and cryotherapy can be applied medically. A 19-year-old female patient was admitted to the dermatology outpatient clinic because of bleeding lesions that started 3 years ago and spread gradually between the lower inner quadrant of the right breast and the sternum. Because of the biopsy taken from the lesion, the patient was diagnosed with lymphangioma circumscriptum. The lesion was surgically excised. Lymphangioma circumscriptum, which is generally localized in the oral mucosa, tongue, areas close to the trunk of the lower and upper extremities, inguinal, armpit and chest region, was detected between the right breast inner quadrant and sternum in this study. We believe that our case, which is rarely encountered in terms of location and age of onset, will contribute to the literature in these respects.

Genellikle immün yetmezliği olan konakçılarda fırsatçı bir enfeksiyon olarak görülen invaziv aspergilloz (IA), yüksek morbidite ve mortalite ile ilişkilidir. IA, izole olarak solunum sisteminde, nazal sinüslerde, merkezi sinir sisteminde, deride, karaciğerde ve idrar yollarında ortaya çıkar. Extrapulmoner aspergilloz ise genellikle dissemine olarak görülür. Gastrointestinal aspergillozis, IA’nın en az görülen şekli olmasına rağmen ciddi sonuçlara neden olabilir. Bu yazıda, kemoterapi alan ve pulmoner aspergilloz gelişen akut lösemili bir hastada IA’ya bağlı ince bağırsak ileus olgusunu sunduk. Literatürün de sistematik bir incelemesini yaptık. Kemoterapi altında dirençli ve nüks akut lenfoblastik lösemili 3 yaşında bir kız çocuğunda kemoterapiye bağlı şiddetli nötropeni ve pulmoner aspergilloz gelişti. Hasta, ateş ve kusma ile başvurdu. Muayenede soluk görünümde ve batın aşırı derecede distandü, hassas idi. Laparotomi sırasında terminal jejunum ve proksimal ileumda çoklu nekrotik segment saptandı. Aspergillus nekrotik segmentten izole edildi. İleum rezeksiyonu yapıldı. Hastaya vorikonazol ve kaspofungin uygulanmasına rağmen hasta kaybedildi. Literatür derlemesinden bağırsak IA ile ilgili daha önce tek olgu raporlarında veya küçük olgu serilerinde yayınlanmış 12 makale incelendi. Gastrointestinal aspergillozda klinik belirtiler genellikle karın ağrısı gibi non-spesifiktir ve nadiren akut batın görülür. Akciğer tutulumu olan veya olmayan şiddetli ve uzun süreli nötropenik hastalarda doğru tedavi ve acil cerrahi uygulanabilmesi açısından gastrointestinal aspergillozdan şüphelenilmelidir. Bu yazıda, erken cerrahi müdahalenin ve kombine antifungal tedavinin önemini vurgulanmaktadır. Bununla birlikte, antifungal ajanlarla kombinasyon tedavisi, özellikle kaspofungin ve vorikonazol ile kombinasyon tedavisi ile ilgili verilerin tartışmalı olduğu ve prospektif çalışmalara ihtiyaç olduğu vurgulanmalıdır.

In invasive aspergillosis (IA), which is among the opportunistic infections in immunocompromised individuals, high rates of morbidity and mortality can be observed. This disease is most commonly seen in the respiratory tract, but has also been reported in the sinuses, central nervous system, skin, liver, and urinary tract. Aspergillosis, which can be seen outside the lung, is usually seen in disseminated disease. Although aspergillosis, which can be seen in the gastrointestinal tract, is the least common form, it may progress with complications in the follow-up. We present a patient who was followed up with the diagnosis acute leukemia and developed small bowel ileus due to IA after pulmonary aspergillosis while chemotherapy was continuing. We presented our case in a literature review. Pulmonary aspergillosis due to aspergillus was detected in a 3-year-old patient, who was diagnosed with acute lymphoblastic leukemia and relapsed while chemotherapy was continuing. The patient, who was started antifungal due to pulmonary aspergillosis, developed complaints of fever and vomiting in the follow-up. Physical examination revealed distension, defense, and tenderness in the abdominal examination. In the patient who underwent laparotomy, multiple necrotic segments were detected in the terminal jejunum and proximal ileum during the operation. Pathologically, aspergillus was detected in the resected area. Voriconazole and caspofungin were added to the patient who underwent ileum resection, but the patient died. At the time of the literature search, 12 articles on intestinal aspergillus were found. Gastrointestinal manifestations of aspergillosis may not be very specific, except for abdominal pain. If the patient has a prolonged neutropenic period, acute abdomen, gastrointestinal aspergillosis should be kept in mind even if there is no pulmonary involvement. Antifungal treatment should be started in the early period and surgical intervention should be considered in the early period for patients with acute abdomen and ileus. Dual therapy in antifungal therapy, such as combination therapy with caspofungin and voriconazole, is controversial.

Frajil-X-mental retardasyon 1 (FMR1) genini 55 - 200 sitozin-guanin-guanin (CGG) tekrarı ile taşıyan kişiler, frajil-X ile ilişkili tremor/ataksi sendromu (FXTAS) için yüksek risk altındadır. FXTAS klinik bulguları, geç başlangıçlı psikolojik bozukluklar, serebellar yürüyüş ataksisi, bilişsel gerileme ve serebellar intansiyonel tremordur. FMR1 premutasyon taşıyıcı kadınların yaklaşık %8’i ve erkeklerin %75’i FXTAS geliştirir. İkinci X kromozomunun koruyucu etkisi nedeniyle, FXTAS kadınlarda son derece nadir gözlenmiştir. Tremor ve yürüme ataksisi semptomları ile başvuran, oğlunda frajil-X sendromuna bağlı mental retardasyon olan altmış sekiz yaşında FMR1 premutasyon taşıyıcısı kadın olgu sunulmaktadır. Manyetik rezonans görüntülerinde hafif global beyin atrofisi ve beyaz cevher lezyonları mevcuttu. Genetik analiz, premutasyonu 90 CGG tekrar sayısı ile doğruladı. FXTAS, FMR1 geninin premutasyonu ile nörodejeneratif bir hastalıktır. Yürüme ataksisi ve tremoru olan kadın hastalar, aile üyeleriyle birlikte genetik test için sevk edilmelidir.

People carrying a fragile-X-mental retardation 1 (FMR1) expansion between 55 and 200 cytosine-guanine-guanine (CGG) repeats are at increased risk of the fragile-X-associated tremor/ataxia syndrome (FXTAS). FXTAS clinical findings are late-onset psychological disorders, cerebellar gait ataxia, cognitive decline, and cerebellar intentional tremor. About 8% of female and 75% of male FMR1 premutation carriers develop FXTAS. Due to the protective effect of the second X chromosome, FXTAS have rarely been observed in women extremely rare. We describe a sixty-eight-year-old female carrier of the FMR1 premutation who presented with symptoms of tremor and gait ataxia and whose son has mental retardation with fragile-X syndrome. Mild global brain atrophy and white-matter lesions were observed in the magnetic resonance imaging images. Genetic analysis confirmed the premutation with a number of 90 CGG repeats. FXTAS is a neurodegenerative disease with a premutation of the FMR1 gene. Female patients with gait ataxia and tremor should be referred for a genetic test with family members.