The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study

IntroductionElevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.MethodsThis multi-center, prospective study enrolled patients aged 3–216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.ResultsOverall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001).DiscussionQuestioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases. Trial RegistrationClinicaltrials.gov NCT04120168

Molecular detection and characterization of Hepatozoon spp. in dogs from the Central part of Turkey

WOS:000354158100028PubMed:25800100Canine hepatozoonosis is a tick-borne protozoal disease caused by Hepatozoon spp. Two species of Hepatozoon are currently known to infect dogs as Hepatozoon canis and H. americanum. Although H. canis generally causes a chronic infection with relatively mild clinical alterations compared to H. americanum, infection by H. canis can be life-threatening. The disease is widespread in USA, Africa, Europe, South America, and Asia. To determine the frequency of infection with Hepatozoon spp. in stray dogs from Central Anatolia Region of Turkey, a total of 221 blood samples collected over a three-year period were evaluated by using genus specific Polymerase Chain Reaction (PCR) designed to amplify a fragment of 666 bp located in 18 S rRNA gene of Hepatozoon spp. Eight (3.61%) blood samples were positive for Hepatozoon spp. For the classification of species, all positive PCR products were purified with a PCR purification kit and sequenced. Sequencing results of eight representative amplicons indicated that 6 were 98-99% identical to the sequence of H. canis and the other 2 sequences were 95-97% identical to the sequence of Hepatozoon spp. So it was named Hepatozoon sp. MF. A phylogenetic tree was constructed from the sequences of the tick-borne agents identified previously and in this study using the neighbor-joining method. The nucleotide sequences were compared to the H. canis sequences reported in Turkey using the nucleotide Basic Local Alignment Search Tool (BLAST) program. The results of this study are significant in terms of the presence of a novel canine Hepatozoon genotype. (C) 2015 Elsevier GmbH. All rights reserved

Haemoparasitic agents associated with ovine babesiosis: A possible negative interaction between Babesia ovis and Theileria ovis

WOS:000430775000027PubMed:29559137Babesiosis, theileriosis, and anaplasmosis are the most common tick-borne diseases in sheep. The majority of anaplasmosis and theileriosis are subclinical; however, babesiosis causes severe infections in small ruminants. Although there are many reports of co-infections with the agents of these diseases, their clinical severity compared with either of the infections alone is unknown. Within the host, interactions between co-infecting species may cause variations in clinical presentation and response to therapy. The aim of this study was to determine the tick-borne agents in sheep located at sites where fatal disease outbreaks caused by babesiosis have commonly been reported. Two hundred and nine sheep with clinical signs suggestive of ovine babesiosis were included in the study. The initial diagnosis of haemoparasites was based on clinical symptoms and microscopy and was confirmed using PCR assays. The blood samples were examined for the presence of Babesia ovis (B. ovis), Anaplasma ovis (A. ovis), A. phagocytophilum, and Theileria ovis (T. ovis). The results showed 86.12% of the animals were infected with one or more pathogens. B. ovis was the dominant pathogen. Overall, the infection rate of B. ovis, A. ovis, T. ovis, and A. phagocytophilum was 70.81%, 56.94%, 21.05%, and 2.39%, respectively. The infection rate of B. ovis alone (31.11%) was higher than A. ovis (9.44%) or T. ovis (1.67%) alone. Co infections were found at a higher percentage (57.78%) than single infections (42.22%). A. ovis was detected in the blood of a high percentage (98.07%) of co-infected animals. Coexistence of B. ovis and A. ovis (34.45%) was more common than other combinations of species. There was a noticeably low level of co-occurrence between B. ovis and T. ovis (1.11%). During the study, 11 sick animals did not survive despite treatment. Seven were infected with B. ovis alone, three had a dual infection with B. ovis and A. ovis, and one had B. ovis, A. ovis, and T. ovis.Scientific and Technological Research Council of Turkey (TUBITAK)Turkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [TOVAG-113-O-336]The authors would like to thank to The Scientific and Technological Research Council of Turkey (TUBITAK, TOVAG-113-O-336) for financial support

SYMBOLISM AND THE CONCEPT OF IRONY IN CAMUS’ LA CHUTE

Günümüze değin, Albert Camus’nün eserleri, sosyolojik, politik, varoluşçu, psikanalitik açılardan ve üslup bakımından defaaten incelenmiştir. Buna mukabil, ironi sanatı ve bu eleştirel üslubun beraberinde getirdiği kazanımlar ve sınırlılıklar, araştırmacılar tarafından çoğunlukla göz ardı edilmiştir. Aslında Camus’nün muhalifleriyle hatta kendisiyle olan (iç)hesaplaşmasında kullandığı önemli ve tesirli silah, bu ironik üslubun belirsizliği değil midir? Peki, bu durum gün gelip yazarın aleyhine sonuçlanabilir mi? “Ayna” teması, nasıl bir anlatımın temel çıkış noktası olabilir? Dünyanın anlamsızlığını gün yüzüne çıkarmak amacıyla kişinin bünyesinde barındırdığı “ironi algısı”, bu “ayna” temasıyla tasvir edilebilir mi? Dil “ayna” olarak tasavvur edilebilir mi? “Suyla ilişkilendirilen ayna teması”, anlatımın gidişatını ne yönde etkilemektedir? Clamence karakterinde “ironi algısı” nasıl ortaya çıkar? Her şeyi tiye almayı yeğleyen bir yazarın, ekseriyetle başvurduğu kendisine özgün ironi temelli teknikler nelerdir? O halde Camus’nün üslubunda sıkça başvurduğu birçok hiciv tekniği bu şekilde karşımıza çıkmaz mı? İstiare aracılığıyla “ayna” kavramı Albert Camus’de adeta bir katalizör rolü görmektedir. Bu sayede ayna teması birçok görselliği ve diğer muhtelif temaları da bünyesinde barındırarak gerçek bir anlatımı ortaya çıkarır. Çok yönlü bu tema; öyküleme sanatı, psikanaliz, felsefe gibi muhtelif açılardan ve estetik bakımdan da değer kazanır. Çalışmamızda tüm bu sorulara cevap aranmaya çalışılmış ve bu sayede Camus’nün çok fazla incelenmeyen ironik dili de ön plana çıkartılmıştır.Until today, many sociological, political, existential, stylistic and psychoanalytic studies have been carried out on the works of Camus. In contrast, two essential characteristics have often been ignored by the researchers: the irony and its issues. The thing what Camus used to get even with his enemies, maybe more with himself having the role of a highly developed weapon was the ambiguity of this cynic style? Can this cynic style be against the writer? How and why the micro theme as a 'mirror' can become the main axis of a narrative? The mirror can turn into an inevitable tool to reveal cynic “me” and the absurdities of this world? Can the language be conceived as a mirror? How does the aquatic mirror effect the organization of the story? How does the cynic “me” appear in the character of Clamence? What were the preferred techniques of the writer who likes to turn everything into ridiculous? In that case, many ridiculous situations appear in the works of Camus? In effect, the mirror by means of metaphor seems to play a role of a catalyst for Camus. The mirror provides the creation of a real narrative by gradually becoming the center of a network of images and themes. Thus, this multiple meaning theme obtains many aesthetic, narrative, psychoanalytical and philosophical values at the same time. In our study, all of these questions are tried to be answered and thanks to this, Camus’s underestimated ironic language is also highlighted