Search

Aim: Coronavirus disease 2019 (COVID-19) is a severe acute respiratory syndrome with a high mortality rate and has been labeled a global pandemic in March 2020. Gaucher Disease (GD) is one of the rare inherited lysosomal storage diseases (LSDs). We aimed to call attention to the frequency, susceptibility of COVID-19 infection, and the factors that prevent this infection in patients with GD as compared to other LSDs. Material and Methods: The study was conducted retrospectively between September and December 2020. Participants were divided into two groups: GD group (19 patients) and the control group (19 patients, those with other LSDs). All patients were contacted by phone to collect data about their health status, and any possible contact with Covid-19 patients. Results: Six of the GD patients (36.8%) had contacted a confirmed COVID-19 infected person but only three (15.8%) had developed a mild COVID-19 with fever and fatigue that did not require hospital admission. Four of the control group patients (21.1%) had experienced contact with a person with a confirmed COVID-19 infection. Three of the control group patients, that comprised of patients with various LSDs other than GD (15.8%) were positive on COVID-19 PCR tests and two of them had developed a mild COVID-19 infection. One of these (with Mucopolysaccharidosis type 1) had severe symptoms and required hospitalization. Conclusion: There is no consensus on the management of rare diseases such as lysosomal storage diseases during the COVID-19 pandemic. Developing plans regarding the management of COVID-19 infections in LSDs will be useful when drawing up consensus guidelines.

Introduction: Neuronal ceroid lipofuscinoses (NCLs) are a broad class of inherited lysosomal storage disorders. Known mutations in at least 13 different genes can result in NCL with variable ages of onset, symptoms, and pathologic findings. Generally, these patients experience cognitive and motor decline, seizures, visual impairment, and premature death. Pathologically, NCL patients display heterogeneous histologic abnormalities, but consistently exhibit neuronal loss, reactive gliosis, and lysosomal accumulation of autofluorescent storage material or lipopigment. Juvenile-onset NCL has been classically referred to as Batten disease. By far the most prevalent NCL is CLN3-associated disease. It is an autosomal recessive condition that is usually caused by mutations in the ceroid-lipofuscinosis, neuronal 3 (CLN3) gene. CLN3 encodes battenin, a ubiquitously expressed transmembrane protein of unknown function that is associated with cellular homeostasis and neuronal survival. The initial clinical symptom of CLN3-associated NCL is central vision loss, which is usually detected between 4 and 9 years of age. Seizures typically begin early in the second decade of life, and affected individuals rarely live beyond their mid-20ies. Case Presentation: Herein, we describe a 16-year-old patient with CLN3-related juvenile NCL with a preliminary diagnosis of Niemann Pick Type C disease. The proband showed characteristic clinical signs, including epilepsy, ataxia, psychomotor regression, dementia, and visual impairment with an unusual elevation of lyso-sphingomyelin-509 (Lyso­SM-509; 812 nmol/L, normal 1–33 nmol/L). A homozygous NM_001042432.2(CLN3):c.233dup (p.Thr80fs) variant was detected at exon 4 of CLN3. Diagnosis of NCL was difficult due to the pronounced elevation of LysoSM-509. Discussion: LysoSM-509 is a biomarker which is elevated especially in Niemann Pick Type C. We can consider that a high LysoSM-509 level might be also an indicator of NCL, especially NCL type 3.

Acinar cystic transformation (ACT) of the pancreas is a rare non-neoplastic cystic lesion. It is most frequently observed in the head of the pancreas. Despite advances in radiologic imaging methods, preoperative diagnosis of acinar cystic transformation is difficult, it is often confused with other cystic lesions. Here, we report three cases of acinar cystic transformation, one of which showed diffuse involvement of the pancreas, and the remaining two were multilocular localized cystic lesions. We analyzed their histomorphologic and immunohistochemical features. The patients’ ages ranged between 15 and 43 years and the ratio of females to males was 2:1. On microscopic examination, the cysts were lined by a single layer of flattened-cuboidal or columnar epithelial cells. The epithelial cells were diffusely positive with trypsin and keratin 7, but patchy with keratin 19. Due to its rarity and lack of radiologic and clinical awareness compared with other pancreatic cystic lesions, preoperative diagnosis of acinar cystic transformation is difficult and not definitive. All cases reported to date have been clinically benign and there is no evidence of recurrence or malignant transformation. The optimal treatment and whether to perform surgery remain controversial.

In addition to the socio-economic change and industrialization experienced in Turkey in the 1950’s, the course of the country’s international relations increased the need for foreign language-speaking personnel. Some of the decisive reasons for the Ministry of National Education for opening the Maarif Colleges include the fact that foreign language education in secondary education institutions was not adequately efficient and the schools that teach foreign languages were inadequate in number and were located in certain centers. The Maarif Colleges, established in 1955, were public schools with paid boarding facilities that provided education in Turkish and English languages. In the first stage, the Maarif Colleges were opened in Istanbul, Izmir, Samsun, Konya, Eskişehir and Diyarbakır. Turkey’s membership in NATO and its close ties with the United States after the Second World War also played an important role in the establishment and operation of the colleges. The Maarif Colleges became attractive educational institutions in a short period since they provided education in foreign language and generally high-quality education in other fields. The number of Anatolian High school built on the Maarif College experience has gradually increased over time and these schools have become the most common type of school in secondary education.

Objective: This study aims to evaluate respiratory functions in patients Coronavirus disease-2019 (COVID-19) with and without pneumonia. Material and Methods: This single-center, prospective study included a total of 72 patients who were diagnosed with COVID-19 infection as confirmed by real-time reverse transcriptase polymerase chain reaction (rtPCR). The patients were divided into two groups according to the physical and thoracic computed tomography (CT) findings as mild symptomatic patients without COVID-19 pneumonia (n=26) and symptomatic cases with COVID-19 pneumonia (n=46). Respiratory functions were evaluated by spirometry in the second and fourth months of the disease onset. Results: The average age of 72 patients, 41 of whom were men, was 40.5±12.27 years. Thoracic CT revealed infiltrations compatible with COVID-19 pneumonia in 46 (63.9%) patients. Hypertension (12.5%) and diabetes (5.6%) were the most common comorbidities. When the results of the patients with and without pneumonia at the second and fourth months were compared, there was no significant difference between the forced expiratory volume in the first second (FEV1) (p1=0,975, p2=0,291), forced vital capacity (FVC) (p1=0,668,p2=0,481) and FEV1/FVC ratio (FER) (p1=0,378, p2=0,980) values. When the repeated anova test was used in the comparison of the two visit differences between the groups, it was seen that there was no difference in any heading (FVC: p=0.077; FEV1: p=0.150; FER: p=0.355). Conclusions: Our study results show no significant difference in the pulmonary function tests of patients with mild and moderate COVID-19 pneumonia at two and four months, compared to those without pneumonia However, additional studies are needed for severe and critical cases.

Introduction Flexible bronchoscopy (FB) is frequently used for assessment and treatment of patients with respiratory diseases. Our aim was to investigate the contribution of FB to diagnosis and therapy in children admitted to the intensive care units (ICU) and to evaluate the safety of FB in this vulnerable population. Methods Children less than 18 years of age who underwent FB in the five neonatal and pediatric ICUs in Istanbul between July 1st, 2015 and July 1st, 2020 were included to the study. Demographic and clinical data including bronchoscopy indications, findings, complications, and the contribution of bronchoscopy to the management were retrospectively reviewed. Results One hundred and ninety-six patients were included to the study. The median age was 5 months (range 0.3-205 months). The most common indication of FB was extubation failure (38.3%), followed by suspected airway disease. Bronchoscopic assessments revealed at least one abnormality in 90.8% patients. The most common findings were airway malacia and the presence of excessive airway secretions (47.4% and 35.7%, respectively). Positive contribution of FB was identified in 87.2% of the patients. FB had greater than 1 positive contribution in 138 patients and 80.6% of the patients received a new diagnosis. Medical therapy was modified after the procedure in 39.8% and surgical interventions were pursued in 40% of the patients. Therapeutic lavage was achieved in 18.9%. There were no major complications. Conclusion Flexible bronchoscopy is a valuable diagnostic and therapeutic tool in neonatal and pediatric ICUs and is not associated with major complications.

Objectives Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by a deficiency in aldolase B that can result in hypoglycemia, nausea, vomiting, abdominal pain, liver and kidney dysfunction, coma, and even death. This study aims to represent the clinical features and molecular genetic analysis data of the patients diagnosed with HFI in our study population. Methods The medical records of the 26 patients with HFI were evaluated retrospectively. Age, gender, clinical findings, metabolic crises, and the results of molecular analyses were recorded. Results The patients with HFI had a good prognosis and the aversion to sugar-containing foods was the main complaint. Seven different variants were identified in the Aldolase B (ALDOB) gene in HFI patients. The most frequent mutations were p.Ala150Pro, p.Ala175Asp had a prevalence of 61 and 30%, respectively, in agreement with the literature and other known variants were found with minor frequencies c.360-363del4(3.8%), p.Asn335Lys(3.8%), and three novel mutations c.113-1_15del4 (3.8%), p.Ala338Val(7.6%), and p.Asp156His(3.8%) were identified at a heterozygous, homozygous, or compound heterozygous level. Conclusions This study results revealed three novel mutations in patients with HFI. On the basis of age of presentation, clinical symptoms, and metabolic crisis, there was no clear-cut genotype-phenotype correlation. This article also demonstrates the importance of screening suspected infants in cases of acute liver failure for prompt diagnosis and treatment of HFI.

BACKGROUND: The National Safety Reporting System, which is developed for Turkey, aims to classify medical errors with a coding methodology that handles errors in subcategories. Error entries done via the system are added to the statistics immediately by advanced live data reporting capabilities of the software. OBJECTIVE: Our aim was to provide information about the Turkey local reporting system to ensure patient safety by detecting medical errors. METHODS: The data used for analyses were obtained from https://www.grs.saglik.gov.tr and the web service used by hospital information systems. The error reporting time, most commonly reported errors, errors by professions and errors by location were examined under the major error categories and percentages that have been used in relevant data. RESULTS: In total, 53,477 errors were submitted to the National Safety Reporting System in 2016. When these entries were split into relevant categories such as drug errors, laboratory errors, surgical errors and patient safety errors, the most common errors were wrong dosage order, hemolyzed sample, not marking the side to be operated on and patient fall (patient/caretaker related), respectively. CONCLUSION: In order to reduce medical errors and provide patient safety, every institution must first of all do its own self-assessment. New user-friendly systems can be developed in order to increase medical error notifications and thus institutions can improve their healthcare quality.

Tarih öğretimde birçok farklı araç kullanılmaktadır. Bu araçlardan biri de gazetelerdir. Gazeteler tarih derslerinde hem ders içinde hem de ders dışında kullanılabilen ucuz, etkili, kullanışlı ve ulaşılması kolay yaygın araçlardır. Öğrencilerin araştırma becerilerini geliştirebileceği kaynaklardan biri olan gazeteler onların ufuklarını genişletebilir. Bu çalışmada gazetelerin tarih derslerinin öğretimde bir araç olarak kullanımı irdelenmiş, öğrencilerin gazetelerin eğitimde bir araç olarak kullanımlarına yönelik algıları, bakışları ve görüşleri ortaya konulmuş ve onların kütüphane kullanımına yönelik düşünceleri değerlendirilmiştir. Çalışma ile ayrıca öğrencilerin birinci el kaynak olarak gazetelerden nasıl yararlandıkları incelenmiştir. Araştırma, İstanbul ili Fatih ilçesindeki Fatih Gelenbevi Anadolu Lisesi 11.sınıfta okuyan 151 kişi ile yürütülmüştür. 1929 yılından 2000 yılına kadar Türkiye’de yayımlanan Akşam, Cumhuriyet, Hürriyet, Milliyet, Sabah, Türkiye, Ulus ve Zafer gazeteleri bu çalışma kapsamında incelenmiştir. Veri toplama aracı olarak her bir öğrenciden 5 sorudan oluşan yazılı değerlendirme raporu alınmıştır. Verilerin analizi betimsel çözümleme tekniği kullanılarak yapılmış, verilerin sayısal dökümü ve karşılaştırılmaları yapılmıştır. Tarih derslerinin öğretiminde gazetelerin kullanımına yönelik başta öğrencilerin çoğunda endişe ve önyargı olduğu görülmüş ancak araştırma ödevinin sonunda öğrencilerin olumsuz bakış açılarında büyük değişim olduğu tespit edilmiştir. Öğrencilerin kütüphane kullanımlarına yönelik düşüncelerin değiştiği, kütüphaneden yararlanma becerilerinin arttığı ve daha çok sosyalleştikleri gözlemlenmiştir., Many different tools are used in history teaching. One of these tools is newspapers. Newspapers are common tools that are cheap, effective, useful and easy to access, which can be used both in and outside the class. Newspapers, one of the sources where students can improve their research skills, can broaden their horizons. In this study, the use of the history lessons of newspapers as a tool in teaching has been examined, students' perceptions, views and opinions about the use of newspapers as a tool in education have been revealed and their thoughts on library use have been evaluated. The study also examined how students used newspapers as primary sources. The research was carried out with 151 students who were studying at the 11th grade of Fatih Gelenbevi Anatolian High School in the district of Fatih in Istanbul. From 2000 until 1929, Evening published in Turkey, Cumhuriyet, Hürriyet, Milliyet, Sabah, Turkey, Ulus and Zafer newspapers were examined in this study. As a data collection tool, a written evaluation report consisting of 5 questions was taken from each student. The analysis of the data was done using descriptive analysis technique, and the numerical breakdown and comparison of the data was done. Anxiety and prejudice were observed in the majority of students, especially for the use of newspapers in the teaching of history lessons. However, at the end of the research assignment, it was determined that there was a big change in the negative perspectives of the students. It has been observed that students' thoughts about library use have changed, their ability to use the library has increased and they have become more social.

Gazeteler insanlara bilgi ulaştıran önemli kaynaklardandır. Bu kaynaklar tarihsel kanıt olma özelliğini ancak tarihçilerin onun karşısındaki tutumlarıyla edinirler. Tarihsel bir kaynak olarak gazeteler yayınladıkları dönemin anlaşılmasına yardımcı olurlar. Ayrıca bu kaynaklar okuyuculara bilginin nasıl sunulduğunun görülmesi ve dönemin algılarını göstermesi bakımından önemlidir. Hiç şüphesiz, yirminci yüzyılın ilk en önemli olayı Birinci Dünya Savaşı’dır. Bu savaşın da en önemli cephesi Çanakkale Cephesi’dir. Çanakkale’nin savaşın kaderine etki edecek kilit bir konumda olması dünya kamuoyunun dikkatini çekmesine sebep olmuştur. Bu yüzden savaş başladığı andan itibaren, Türk ve dünya basını bu konuyla yakından ilgilenmiş ve gelişmeleri kendi ülkelerine bildirmiştir. Amerikan basını da Çanakkale Cephesi’nde yaşanan gelişmeleri okuyucularına aktarmıştır. Birinci Dünya Savaşı’nın başlarında ABD’nin tarafsız bir ülke olması sebebiyle Amerikan basını her iki tarafta yaşanan gelişmeleri aktarmıştır. Çanakkale Savaşları’nda yaşanan gelişmelerin Amerikan basınında nasıl yer aldığı ve okuyuculara burada yaşanan olayların nasıl aktarıldığını incelemek bu çalışmanın asıl amacıdır. Bunun için Amerika’da yayımlanmış gazetelerin Çanakkale Savaşlarıyla ilgili yaptıkları haberler doküman analizi yöntemiyle incelenmiştir. Amerika basınında Çanakkale Savaşlarında Müttefik Devletlerin kazanmak için neredeyse her yola başvurdukları görülmektedir. Bu saldırılar karşında Türklerin ise büyük bir mücadele verdikleri görülmektedir.

Objectives This study aimed to investigate the frequency and status of depression and anxiety among mothers of children with inborn errors of metabolism (IEM) who were on a restricted diet and previously experienced metabolic crises. Methods This cross-sectional multicenter descriptive study included 93 children with IEM who were on restricted diet. The patients were divided into two groups: those who had experienced metabolic crises (n=44, urea cycle defect, organic acidemia, maple syrup urine disease, hereditary fructose intolerance) and those who had not experienced previous metabolic crises (n=49; phenylketonuria, galactosemia, and non-ketotic hyperglycinemia). The control group comprised 37 healthy children. The mothers of the patients and control participants answered a questionnaire about their and their children's demographic and clinical characteristics and completed the Beck Depression Inventory (BDI) and the State-Trait Anxiety Inventory (STAI-S and STAI-T). Results The maternal BDI, STAI-S, and STAI-T scores were 6.3±5.2, 36.1±11.2, and 39.9±8.8, respectively, in the control group. The maternal BDI, STAI-S, and STAI-T scores of the children who had experienced (19.2±9.7; 44.0±12.4; 47.9±10.6) and those who had not experienced (13.9±9.1; 40.7 ±8.6; 45.3±8.3) a crisis were significantly higher than for the controls. The BDI score was significantly higher for the mothers of children who had experienced a crisis (p=0.011), whereas no significant difference was determined between the two patient groups regarding STAI-S and STAI-T scores. The mothers of four children who had experienced metabolic crises were on antidepressant therapy. Conclusion Although their children were on a similar restricted diet, the mothers of children who previously experienced or who had the risk of experiencing metabolic crises had higher depression scores as compared with the mothers of children who did not experience a previous crisis. Early supportive therapy may be required for the families of these patients to lower the burden of stress.

The 7020 aluminum alloy is one of the hardenable Al-Zn-Mg based alloys, which are a family of high strength aluminum alloys. These 7020 alloys are commonly used in the aircraft and automotive industries. The microstructural changes have a significant impact on the mechanical properties of binary and multi-component alloys. For this reason, 7020 aluminum alloys were prepared with different growth rates on account of the changes in the microstructures; thus, directionally solidification processes were actualized with a Bridgman furnace at five various growth rates (V = 8.3-166.0 mu m/s) and at constant temperature gradient (G = 8.3 K/mm). Microhardness (HV), ultimate tensile strength (sigma(U)) and yield strength (sigma(y)) of the solidified alloys were determined. The HV increased from 758.8 to 917.1 N/mm(2), the sigma(U) from 125.4 to 208.1 N/mm(2) and the sigma(y) from 133.7 to 230.8 N/mm(2) with an increase in growth rate from 8.3 to 166.0 mu m/s.

The administrative status of some settlements can be changed by administrative arrangements in Turkey. These administrative arrangements can be made for socio-economic or political reasons. Therefore, the transformation of districts turn into provinces brings some discussions. The Democratic Party changed the status of Adiyaman. Adiyaman district became a province in 1954. In this study, the process of becoming a province in Adiyaman district and the developments in this process and the expectations of the people were examined. Within the scope of the study, the Grand National Assembly of Turkey Minutes, the press of the period and other related studies were examined. There are socio-economic, geographical and political reasons for Adiyaman being a province. These reasons led to controversy between the power and opposition of the period. The inclusion in Besni to Adiyaman is the most important issue in this process. Most of the Besni people desired to join to Gaziantep instead of Adiyaman. However, Besni joined to Adiyaman with the administrative regulation. The opposition claimed that Besni was joined to Adiyaman for political reasons. The ruling party argued that this arrangement was made for socio-economic reasons, not for political reasons. The issue of Adiyaman becaming a province took place in the local press of the period. Therefore Adiyaman is one of the best cases of the transition from the district to the province.

Çalışma Türkiye’nin batısında yer alan Menemen Ovası’nda Uluslararası Tarımsal Araştırma ve EğitimMerkezi arazisinde 2014 yılında yürütülmüştür. Marul bitkisi evsel kaynaklı arıtılmış atıksu ile sulanmış;sulama suyu ise üç farklı sulama yöntemi kullanılarak uygulanmıştır. Bu sulama sistemleri; toprak üstüdamla sulama, toprak altı damla sulama ve karık sulama sistemleridir. Sulama suyunda anyon-katyon,kirlilik ve fekal koliform analizleri yapılmıştır. Toprakta mikrobiyolojik aktivitenin en yoğun olduğu 0-20cm derinlikten alınan örneklerde de patojen mikroorganizma analizleri yapılmıştır. Suyun pH değerleri;7.9-7.79, EC değerleri; 2.7-3.9 dS m-1 ve fekal kolform değerleri 1.456x103-2.568 x103 cfu 100 ml-1arasında bulunmuştur. Arıtılmış atıksu ile sulama yapmadan önce alınan toprak örneklerinde Salmonellaspp. patojenine rastlanılmış olması oldukça ilginçtir. Bunun nedeni, bölgenin Kuş Cennetine oldukçayakın olması nedeniyle toprağın kanatlıların dışkılarıyla kirlenmiş olmasıdır. Hasat edilen marullardayapılan patojen mikroorganizma sonuçları incelendiğinde en az bulaşıklığın 2x101 cfu 100g-1 değeriile toprakaltı damla sulama konusunda, en yüksek bulaşıklığın ise 4.4 x102 cfu 100g-1 değeri ile karıksulama konusunda olduğu tespit edilmiştir., The Research was conducted at International Agricultural Research and Training Centre in Menemen,located western Turkey, in the late summer period in 2014. In this research, lettuce was irrigated by3 different irrigation methods, drip irrigation, subsurface drip irrigation and furrow irrigation, withtreated domestic waste water. Anion-cation, pollution analyses and fecal coliform tests were run. Alsosoil samples, from plots from the depth of 0-20 cm, were taken and analyzed in order to monitor thestatus of the pathogens in soil. Water’s pH values were 7.59-7.79, EC values were 2.7-3.9 dS m-1, fecalcoliform values variety 1.456x103-2.568 x103 cfu 100 ml-1. According to the analyses of soil samplesbefore irrigation by treated waste water salmonella was also uncounted beforehand. It is thoughtthat, this case can be a result of the feces of winged living around the trial area. According to thepathogenic analyses run on harvested lettuce E. coli values were found respectively 2x101 cfu 100g-1for sub-surface drip irrigation, 3 x101 cfu 100g-1 E. for drip irrigation and 4.4 x102 cfu 100g-1 for furrowirrigation. As a conclusion, it was found that pathogenic contamination in subsurface drip irrigation isless than the other methods.

ÖzetAmaç: Non Ketotik Hiperglisinemi(NKH), glisin yıkımında bozukluk sonucunda gelişen, nadir ve ağır seyreden doğumsal bir metabolizma hastalığıdır. Çalışmamızda NKH tanılı hastanın geriye dönük incelenmesi amaçlanmıştır.Gereç ve Yöntemler: Çalışmamızda Ocak 2007-Ağustos 2018 tarihleri arasında Ankara Çocuk Sağlığı ve Hastalıkları Hematoloji Onkoloji Eğitim ve Araştırma Hastanesi’nde tanı alıp, takip ve tedavi edilen Non Ketotik Hiperglisinemi tanılı 12hastanın dosyası geriye dönük olarak tarandı. Hastaların demografik özellikleri, etiyolojiye yönelik yapılan tetkik sonuçları, aldıkları tedaviler kaydedildi.Bulgular: Ocak 2007 ile Ağustos 2018 tarihleri arasında hastanemizde takip ve tedavi edilen NKH tanılı 12 hasta çalışmaya alındı. Hastaların anne ile babası arasında birinci derece akraba evliliği oranı %67 (n:8) olarak saptandı. Hastalarda en sık başvuru nedenleri emmeme idi. Hastaların %92 ‘sinde (n:11) Kranial MRG’da (Kranial magnetik rezonans görüntüleme) santral sinir sistemi anomalileri saptandı. Hastaların tamamında ilk bakılan kan ve BOS glisin düzeyi yüksek olup, BOS/plazma glisin oranının 0,08’in üzerinde o1duğu görüldü. Genetik analiz tetkikinde 3 hastada (%25) Non Ketotik Hiperglisinemi açısından anlamlı mutasyon saptandı. 11 hasta (%92) en az ikili anti epileptik ve glisin azaltıcı tedavi alıyordu. Hastalarımızdan 7si farklı yaşlarda kaybedilirken 4 hasta sekelli olarak yaşamını idame ettirmekteydi.1 hastada ise sekel saptanmadı.Sonuç: Amacımız, özellikle akılda tutulmadığında tanısı zor konulan NKH’nin tanı ve tedavi yaklaşımlarına ve Doğumsal Metabolik Hastalıkların (DMH) önemine vurgu yapmaktır. Akraba evliliğinin yaygın olduğu ülkemizde sağlıklı doğmuş ancak emme güçlüğü, hipotoni, konvülziyon ve ensefalopati tablosu gelişen yeni doğanlarda NKH daima akılda tutulmalıdır, Objective: Non ketotic hyperglycinemia (NKH) is a rare and severe congenital metabolic disorder that develops as a result of impaired glycine destruction. The aim of this study was to evaluate the patient with NKH retrospectively.Materıal and Methods: In our study, the files of 12 patients diagnosed as Non-Ketotic Hyperglycinemia diagnosed and followed in Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital between January 2007 and August 2018 were retrospectively reviewed. Demographic characteristics of the patients, the results of the etiology and the treatments they received were recorded. Results: Twelve patients with NKH who were followed up and treated at our hospital between January 2007 and August 2018 were included in the study. The ratio of first degreeconsanguineous marriages between mother and father was 67% (n: 8). The most commonreasons for admission in patients were not sucking. Central nervous system anomalies weredetected in 92% of patients (n: 11) in cranial MRI (cranial magnetic resonance imaging). Bloodand CSF glycine levels were higher in all patients and CSF / plasma glycine ratio was higherthan 0.08. Genetic analysis revealed that 3 patients (25%) had a significant mutation in termsof Non ketotic Hyperglycinemia 11 patients (92%) received at least two antiepileptic andglycine-reducing treatments. While 7 of our patients died at different ages, 4 patients weremaintaining their life as sequelae No sequela was found in 1 patient.Conclusion: Our aim is to emphasize the diagnosis and treatment approaches of NKH and theimportance of congenital metabolic diseases (DMH). In our country, where consanguineousmarriages are common, congenital metabolic diseases should be kept in mind in new born whoare born healthy, but have difficulty in sucking, hypotonia and convulsion.

EgeUn###, Classical galactosemia is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in the GALT gene. With the benefit of early diagnosis by newborn screening, the acute presentation of galactosemia can be prevented. In this study, we describe the clinical phenotypes, time of diagnosis and GALT genotypes of 76 galactosemia patients from Turkey, where the disease is not yet included in the newborn screening program. The median age at first symptom was 10 days (range 5-20), while the median age at diagnosis was 30 days (range 17-53). Nearly half of the patients (36 patients, 47.4%) were diagnosed later than age 1 month. Fifty-eight individuals were found to have 18 different pathogenic variants in their 116 mutant alleles. In our sample, Q188R variant has the highest frequency with 53%, the other half of the allele frequency of the patients showed 17 different genotypes. Despite presenting with typical clinical manifestations, classical galactosemia patients are diagnosed late in Turkey. Due to the geographical location of our country, different pathogenic GALT variants may be seen in Turkish patients. In the present study, a clear genotype-phenotype correlation could not be established in patients.

In this work, the influence of different heat treatments (HT) processes on the microstructure and mechanical properties of cast Al-4Mg-1.5 Mg alloy was investigated. To investigate the effect of HT, firstly Al-4Cu-1.5Mg samples were homogenized (solution treatment) at 500 degrees C/2h, water quenched at room temperature (RT) and then immediately exposed to an artificial aging process at 200 degrees C for various aging times of 1, 4, 8, 12, 16, 20 and 24 hours. Quantitative examinations after HT processes (solution treatment and aging) have shown that intermetallic phases (Al2Cu and Al2CuMg) were dissolved in the alpha-Al matrix phase and distributed along the grain boundary. Some mechanical properties (HV sigma, sigma(TYS), sigma(UTS), sigma(CYS), E and delta) of a sufficient number of alloy samples exposed to different heat treatments were examined in detail. The data obtained show that the conditions of solution treatment and aging in some conditions show superior mechanical properties than the sample in the form as-cast. The highest microhardness value (126 HV) was obtained for the alpha-Al matrix phase, which was subjected to solution treatment (only homogenization). After aging for 1h at 200 degrees C, the peak value of microhardness was achieved as 289.5 HV for intermetallic phases. The highest tensile strength (sigma(UTS)) was obtained as 328 MPa for the sample which aged for 8h at 200 degrees C after solution treatment for 2h at 500 degrees C.

Amaç: Bu çalışma, ABO ve Rh kan gruplarının çocuklarda COVID-19 sıklığını ve semptom gelişimini etkileyip etkilemediğini araştırmayı amaçlamaktadır.Gereç ve Yöntem: Çalışmaya SARS-CoV-2 PCR testi pozitif 337 çocuk ve kontrol grubu olarak 1286 sağlıklı çocuk dahil edildi.Bulgular: Rh (+) çocuklarda hasta oranı, Rh (-) çocuklara göre anlamlı derecede yüksekti (p=0,006). Kan grubu A'nın, COVID-19 vakalarında semptom geliştirme için bir risk faktörü olduğu ve riski artırdığı bulunmuştur. Rh (+) kan grubunun COVID-19 için bağımsız bir risk faktörü olduğu ve COVID-19 vakalarının semptomatik olma oranını artırdığı bulunmuştur.Sonuç: Çalışmamızdan elde edilen veriler, Rh pozitifliğinin çocukları hem COVID-19'a hem de COVID-19 durumunda semptomların gelişimine duyarlı hale getirdiğini ve kan grubu A'nın COVID-19 pozitif çocuklarda semptom geliştirme riskini artırdığını göstermektedir., Aim: This study aims to investigate whether ABO and Rh blood groups affect the prevalence and symptom development of COVID-19 in children.Materials and Methods: The study included 337 children with positive SARS-CoV-2 PCR test and 1286 healthy children as control group.Results: The rate of patients in Rh (+) children was significantly higher than in Rh (-) children (p=0.006). Blood type A has been found to be a risk factor for developing symptoms in COVID-19 cases and increases the risk. It has been found that the Rh (+) blood group is an independent risk factor for COVID-19 and increases the rate of being symptomatic of COVID-19 cases.Conclusion: The findings of our study show that Rh positivity renders children sensitive to the development of clinical symptoms both against COVID-19 and in the case of COVID-19, and blood type A increases the risk of developing symptoms in children with COVID-19.

AİM: The aim of this study was to compare the vitamin D levels between the group of patients diagnosed with COVID- 19 and healthy controls, and to investigate the relationship between vitamin D levels and various clinical findings. MATERİAL AND METHODS: A total of 262 COVID-19-confirmed patients and 157 healthy controls were included in the study. RESULTS: The mean vitamin D level in the COVID-19 group (12.8±8.9 ng/mL) was significantly lower than the control group (15.2±12.1 ng/mL) (p=0.015). The rate of those with vitamin D levels below 10 ng/mL in the COVID- 19 group (49.6%) was significantly higher than the control group (39.5%) (p=0.044). In the logistic regression analysis, it was found that those with a vitamin D level below 10 ng/mL had a 1.508-fold increased risk of COVID-19 compared to those who had 10 ng/mL and above (Odds ratio: 1.01-2.252). According to the risk analysis, those who have vitamin D levels below 20 ng/mL are 1,224 times higher than those who have 20 ng/mL and above; those under 30 ng/mL were found to have an increased risk of 2.01 times compared to those of 30 ng/mL and above. CONCLUSİONS: From the point of view of the literature data, we think that the findings we obtained may support researches that vitamin D level is significantly associated with both COVID-19 and other infections and many serious autoimmune and malignant diseases. As a result, rehabilitation programs on vitamin D deficiency should be organized and the society should be raised. KEY WORDS: Covid-19, Vitamin D25 (Oh) D.Il nostro scopo è quello di confrontare i livelli di vitamina D tra il gruppo di pazienti con diagnosi di COVID-19 e controlli sani e di indagare la relazione tra i livelli di vitamina D e vari risultati clinici includendo nello studio 262 pazienti confermati COVID-19 e 157 controlli sani. RISULTATI: Il livello medio di vitamina D nel gruppo COVID-19 (12,8 ± 8,9 ng / mL) era significativamente inferiore rispetto al gruppo di controllo (15,2 ± 12,1 ng / mL) (p = 0,015). Il tasso di quelli con livelli di vitamina D inferiori a 10 ng / mL nel gruppo COVID-19 (49,6%) era significativamente più alto rispetto al gruppo di controllo (39,5%) (p = 0,044). Nell’analisi della regressione logistica, è stato scoperto che quelli con un livello di vitamina D inferiore a 10 ng / mL avevano un rischio aumentato di 1,508 volte di COVID-19 rispetto a quelli che avevano 10 ng / mL e oltre (Odds ratio: 1,01-2,252 ). Secondo l’analisi del rischio, coloro che hanno livelli di vitamina D inferiori a 20 ng / mL sono 1.224 volte più alti di quelli che hanno 20 ng / mL e oltre; quelli sotto i 30 ng / mL hanno riscontrato un rischio aumentato di 2,01 volte rispetto a quelli di 30 ng / mL e superiori. CONCLUSIONI: Dal punto di vista dei dati della letteratura, riteniamo che i risultati che abbiamo ottenuto possano supportare le ricerche secondo cui il livello di vitamina D è significativamente associato sia con COVID- 19 che con altre infezioni e molte gravi malattie autoimmuni e maligne. Di conseguenza, dovrebbero essere organizzati programmi di riabilitazione sulla carenza di vitamina D e la società ne dovrebbe essere avvantaggiata.

To evaluate the effect of frequency-shifting techniques recently used in hearing aids for speech discrimination scores and hearing thresholds.Thirty individuals (16 men and 14 women) with sensorineural hearing loss who used normal fitting monaural hearing aids and frequency-shifting feature for at least 2 months and whose 4000-8000 Hz hearing threshold was over 70 dB participated. The average age was 69.73 ± 10 (range: 65-80 years). We detected the types and degree of each participant's hearing loss. Measurements with and without hearing aids were made in a free field. For speech discrimination scores, 6 listings consisting of 25 monosyllables have been used. It has been avoided to learn words thanks to presentation of words in different listings to subjects.Pure-tone averages of the participants were measured using a supra-aural headphone, normal fitting hearing aid, and frequency-shifting feature. The results were 55.93 ± 6.89, 40.47 ± 5.48, and 36.73 ± 5.72 dB, respectively (p˂0.05). Speech discrimination scores for hearing aids worn on the right ear were measured as 67.73 ± 12.42%, 77.33 ± 10.33%, and 82.13 ± 10.46% with supra-aural headphones, normal fitting hearing aids, and frequency-shifting feature, respectively. Scores for hearing aids worn on the left ear were 68 ± 7.56%, 76.80 ± 6.96%, and 82.13 ± 6.67% with supra-aural headphone, normal fitting hearing aid, and frequency-shifting feature, respectively (p˂0.05).Elderly individuals using hearing aids had low speech discrimination scores. The frequency-shifting feature recently used in hearing aids significantly increased the scores, making a significant contribution to the solution of speech reception and communication problems in cases of high-frequency hearing loss caused by presbyacusis in elderly individuals..