Pubmed Ek Yayınlar
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Publication Metadata only A clinical variant in SCN1A inherited from a mosaic father cosegregates with a novel variant to cause Dravet syndrome in a consanguineous family.(2015-06-30T21:00:00Z) Tuncer, Feyza N; Gormez, Zeliha; Calik, Mustafa; Altiokka Uzun, Gunes; Sagiroglu, Mahmut S; Yuceturk, Betul; Yuksel, Bayram; Baykan, Betul; Bebek, Nerses; Iscan, Akin; Ugur Iseri, Sibel A; Ozbek, UgurA consanguineous family from Turkey having two children with intellectual disability exhibiting myoclonic, febrile and other generalized seizures was recruited to identify the genetic origin of these phenotypes. A combined approach of SNP genotyping and exome sequencing was employed both to screen genes associated with Dravet syndrome and to detect homozygous variants. Analysis of exome data was extended further to identify compound heterozygosity. Herein, we report identification of two paternally inherited genetic variants in SCN1A (rs121917918; p.R101Q and p.I1576T), one of which was previously implicated in Dravet syndrome. Interestingly, the previously reported clinical variant (rs121917918; p.R101Q) displayed mosaicism in the blood and saliva of the father. The study supported the genetic diagnosis of affected children as Dravet syndrome possibly due to the combined effect of one clinically associated (rs121917918; p.R101Q) and one novel (p.I1576T) variants in SCN1A gene. This finding is important given that heterozygous variants may be overlooked in standard exome scans of consanguineous families. Thus, we are presenting an interesting example, where the inheritance of the condition may be misinterpreted as recessive and identical by descent due to consanguinity and mosaicism in one of the parents.Publication Metadata only A comprehensive health effects assessment of the use of sanitizers and disinfectants during COVID-19 pandemic: a global survey.(2023-05-10T21:00:00Z) Hashemi, Fallah; Hoepner, Lori; Hamidinejad, Farahnaz Soleimani; Haluza, Daniela; Afrashteh, Sima; Abbasi, Alireza; Omeragić, Elma; Imamović, Belma; Rasheed, Narin A; Taher, Taqi M J; Kurniasari, Fitri; Wazqar, Dhuha Youssef; Apalı, Özge Ceren; Yildirim, Ayca Demir; Zhao, Bo; Kalikyan, Zaruhi; Guo, Cui; Valbuena, Andrea Chong; Mititelu, Magdalena; Pando, Carolina Martínez; Saridi, Maria; Toska, Aikaterini; Cuba, Magalys Lopez; Kwadzokpui, Precious Kwablah; Tadele, Niguse; Nasibova, Tohfa; Harsch, Stefanie; Munkh-Erdene, Luvsan; Menawi, Wafaa; Evangelou, Efi; Dimova, Antoniya; Marinov, Dimitar; Dimitrova, Teodora; Shalimova, Anna; Fouly, Howieda; Suraya, Anna; da Silva Faquim, Juliana Pereira; Oumayma, Bouadil; Annunziato, Maria Antonieta; Lalo, Rezarta; Papastavrou, Evridiki; Ade, Anju D; Caminada, Susanna; Stojkov, Svetlana; Narvaez, Carmen Gloria; Mudau, Lutendo Sylvia; Rassas, Ines; Michel, Daphnee; Kaynar, Nur Sema; Iqbal, Sehar; Elshwekh, Halla; Hossain, Irin; Al-Fayyadh, Sadeq; Sydorchuk, Aniuta; Alnusairat, Dua'a M H; Abdullahi, Asli Mohamed; Iqbal, Neelam; Pandey, Apsara; Gómez-Gómez, Brenda; Akyildiz, Aysenur Gunaydin; Morosan, Elena; Dwarica, Daniella; Dorj, Gantuya; Hasan, Sumaya Yusuf; Al-Shdayfat, Noha M; Knezevic, Bojana; Valladares, Wendy; Severi, Cecilia; Fuentes, Sofia Cuba; Augusto, Sofia; Sidorova, Elizaveta; Moelyaningrum, Anita Dewi; Alawad, Tafaul; Khalid, Atiqa; Elehamer, Nafisa M K; Mihaylova, Anna; Tsigengagel, Oxana; Menouni, Aziza; Wojtecka, Agnieszka; Hod, Rozita; Idayat, Yusuf Banke; Othman, Khadija; Harfouch, Rim M; Paunov, Tsonco; Omar, Meruyert; Benderli, Nana Christine; Nurika, Globila; Amjad, Sana; Elnoamany, Salma; Elesrigy, Fatma; Shaban, Marwa Mamdouh; Acevedo-López, Doménica; Kartashova, Maria; Khalaf, Atika; Jaafar, Sabah Abdullah; Kadhim, Taisir A; Hweissa, Nada Ab; Teng, Yulong; Mohammed, Fatima E; Sasikumar, Thayahlini; Hikaambo, Christabel Nangandu; Kharat, Aditi; Lyamtseva, Ulyana; Aldeeb, Maya Arfan; Pawlas, Natalia; Khorolsuren, Lkhagvasuren; Koonjul, Roopeshwaree Pallavi; Maïnassara, Halima Boubacar; Chahal, Priyanka; Wangeci, Rose W; Kumar, Ainur B; Zamora-Corrales, Irina; Gracy, Stella; Mahamat, Maimouna; Adamczyk, Jakub; Rahman, Haliza Abdul; Matiashova, Lolita; Elsherif, Omneya Ezzat; Alkhateeb, Nazdar E; Aleaga, Yamilé; Bahrami, Shima; Al-Salihy, Shaimaa Rahem; Cabrera-Galeana, Paula; Lalic-Popovic, Mladena; Brown-Myrie, Eugenie; Bhandari, Divya; Mayaboti, Cinderella Akbar; Stanišić, Svetlana; Pestic, Sanda Kreitmayer; Bektay, Muhammed Yunus; Al Sabbah, Haleama; Hashemi, Saber; Assia, Bouchetara; Merritt, Anne-Sophie; Ramzi, Zhian; Baboolal, Himawatee; Isstaif, Juman; Shami, Rula; Saad, Rahma; Nyirongo, Temwanani; Hoseini, MohammadCOVID-19 has affected all aspects of human life so far. From the outset of the pandemic, preventing the spread of COVID-19 through the observance of health protocols, especially the use of sanitizers and disinfectants was given more attention. Despite the effectiveness of disinfection chemicals in controlling and preventing COVID-19, there are critical concerns about their adverse effects on human health. This study aims to assess the health effects of sanitizers and disinfectants on a global scale. A total of 91,056 participants from 154 countries participated in this cross-sectional study. Information on the use of sanitizers and disinfectants and health was collected using an electronic questionnaire, which was translated into 26 languages via web-based platforms. The findings of this study suggest that detergents, alcohol-based substances, and chlorinated compounds emerged as the most prevalent chemical agents compared to other sanitizers and disinfectants examined. Most frequently reported health issues include skin effects and respiratory effects. The Chi-square test showed a significant association between chlorinated compounds (sodium hypochlorite and per-chlorine) with all possible health effects under investigation (p-value <0.001). Examination of risk factors based on multivariate logistic regression analysis showed that alcohols and alcohols-based materials were associated with skin effects (OR, 1.98; 95%CI, 1.87-2.09), per-chlorine was associated with eye effects (OR, 1.83; 95%CI, 1.74-1.93), and highly likely with itching and throat irritation (OR, 2.00; 95%CI, 1.90-2.11). Furthermore, formaldehyde was associated with a higher prevalence of neurological effects (OR, 2.17; 95%CI, 1.92-2.44). Furthermore, formaldehyde was associated with a higher prevalence of neurological effects (OR, 2.17; 95%CI, 1.92-2.44). The use of sodium hypochlorite and per-chlorine also had a high chance of having respiratory effects. The findings of the current study suggest that health authorities need to implement more awareness programs about the side effects of using sanitizers and disinfectants during viral epidemics especially when they are used or overused.Publication Metadata only A different approach to the treatment of the lateral malleolar fractures with syndesmosis injury: the ANK nail.Kara, A N; Esenyel, C Z; Sener, B T; Merih, EThis retrospective study was conducted on a total of 139 cases of fractured ankles involving the fibula above the syndesmosis which were treated with open reduction and internal fixation with the intramedullary ANK nail at the Department of Orthopaedic Surgery at Vakif Gureba Teaching Hospital from 1990 to 1997. We were able to review 128 of these patients after a mean follow-up of 3.1 years (range, 1 - 7 years) including 60 with Weber type B and 68 with Weber type C fractures. The results were evaluated using objective, subjective, and roentgenographic criteria described by Cedell. Ninety-three patients (73%) have obtained good objective results, 28 (22%) fair, and seven (5%) have obtained poor objective results. Subjective rating were 94 patients (74%), good; 26 patients (20%), fair; and eight patients (6%), poor. Good radiological results were found in 99 patients (77%), fair radiological results in 21 patients (17%), and poor radiological results were found in eight patients (6%). It is concluded that the ANK nail could be used for the fixation of the lateral malleolar fracture with tear of the syndesmosis ligament.Publication Metadata only A novel EGFR Inhibitor, HNPMI regulates apoptosis and oncogenesis by modulating BCL-2/BAX and p53 in colon cancer.(2023-05-14T21:00:00Z) Kandhavelu, Jeyalakshmi; Subramanian, Kumar; Naidoo, Vivash; Sebastianelli, Giulia; Doan, Phuong; Mani, Saravanan Konda; Yapislar, Hande; Haciosmanoglu, Ebru; Arslan, Leman; Ozer, Samed; Thiyagarajan, Ramesh; Candeias, Nuno R; Penny, Clement; Kandhavelu, Meenakshisundaram; Murugesan, AkshayaColorectal cancer (CRC) is the second most devastating disease leading to higher mortality due to its heterogeneity and chemo-resistance. Epidermal growth factor receptor (EGFR) is an effective therapeutic target and the focus of this study. Polyphenols modulate several key signaling mechanisms including EGFR-signaling associated with anti-proliferative and anti-metastatic properties.Publication Metadata only A novel reconstruction method for giant incisional hernia: Hybrid laparoscopic technic.(2016-06-01T21:00:00Z) Gokmen, Ozturk; Umit, Malya Fatma; Cenk, Ersavas; Yasar, Ozdenkaya; Huseyin, Bektasoglu; Bulent, Citgez; Oguzhan, KaratepeLaparoscopic reconstruction of ventral hernia is a popular technic today. Patients with large defects have various difficulties of laparoscopic approach. In this study, we aimed to present a new reconstruction technic that combines laparoscopic and open approach in giant incisional hernias.Publication Metadata only A Perspective on Prostate Carcinogenesis and Chemoprevention.(2015-07-31T21:00:00Z) Bosland, Maarten C; Ozten, Nur; Eskra, Jillian N; Mahmoud, Abeer MIn this perspective, modifiable carcinogenic factors for the prostate are summarized. This is followed by a discussion of how current knowledge about causation of prostate cancer and chemoprevention of prostate cancer can be used to develop preventive strategies. Prostate cancer is a slowly developing cancer which offers opportunities for preventive interventions. Only a few randomized clinical trials of prostate cancer prevention have been completed. The SELECT study with selenium and vitamin E did not find protective effects, but in two trials with 5α-reductase inhibitors risk was reduced about 25%, showing that chemoprevention is possible and indicating that the androgen receptor is a suitable target. Besides smoking cessation and reduction of obesity, there are no known dietary or life style interventions that will have a major impact on prostate cancer risk. Inflammation of the prostate is an attractive target and aspirin may be a promising candidate agent, but has not been addressed yet in preclinical and clinical studies. Antioxidants other than selenium and vitamin E are unlikely to be very effective and data on several dietary supplements are not encouraging. More candidate agents need to be identified and tested in relevant and adequate preclinical models and Phase II trials that have predictive value for outcome of Phase III randomized studies. Doing this will require a systematic approach comparing preclinical and clinical study outcomes to determine their predictive value of preventive efficacy.Publication Metadata only A rare case of acute rheumatic fever with three different types of atrioventricular blocks in the same patient.Yakut, Kahraman; Eybek, Busra; Erolu, Elif; Karacan, MehmetAcute rheumatic fever (ARF) is a systemic autoimmune disease that results from abnormal immune response to group A streptococcus pharyngitis. Although first-degree atrioventricular (AV) block is the most common rhythm problem associated with the disease, other conduction abnormalities also could be seen. We reported three different types of conduction defects (first-degree AV block, second-degree AV block, and complete AV block) in a 15-year-old case diagnosed with ARF. A 15-year-old male patient presented with palpitation. Physical examination findings were unremarkable except dysrhythmic heart sounds. Acute phase reactants were positive, and electrocardiogram showed second-degree type I AV block at hospital admission. In the 2 day of admission, right first metatarsophalangeal arthritis as well as arthralgia involved both knees and ankles developed. Echocardiography revealed moderate rheumatic mitral regurgitation. First-degree AV block with brief complete AV block episode was seen on 24 h rhythm Holter recordings. Based on clinical and laboratory findings, ARF diagnosis was made and anti-inflammatory therapy (naproxen sodium) with benzathine penicillin G was started to the patient. First-degree AV block lasted 3 weeks and other conduction disorders were not seen again first, second, and complete AV block which could be seen during ARF episode and ARF should be considered as a one of the causes of arrhythmias.Publication Metadata only A Rare Complication of Microwave Ablation for Renal Cell Carcinoma; Nephrocolic Fistula.Yilmaz, Temel Fatih; Sari, Lutfullah; Aykan, Mahmut Esat; Gultekin, Mehmet Ali; Oz, Ibrahim IlkerNephrocolic fistula is a pathological connection between the kidney and colon. Percutaneous tumour ablation therapy is a rare cause of iatrogenic nephrocolic fistulain in the literature.Publication Metadata only A Rare Coronary Artery Anomaly: Single Coronary Artery Originate From Right Sinus Valsalva R-IIP Sub-Group Type.(2012-05-31T21:00:00Z) Ozyurtlu, Ferhat; Acet, Halit; Bilik, Mehmet Zihni; Tasal, AbdurrahmanWe reported a single coronary artery case that in the R-IIP sub-group which is a rare sub-group comparing with other sub-groups of single coronary artery originating from right sinus valsalva.Publication Metadata only A systematic bioinformatics approach for large-scale identification and characterization of host-pathogen shared sequences.(2021-09-27T21:00:00Z) James, Stephen Among; Ong, Hui San; Hari, Ranjeev; Khan, Asif MBiology has entered the era of big data with the advent of high-throughput omics technologies. Biological databases provide public access to petabytes of data and information facilitating knowledge discovery. Over the years, sequence data of pathogens has seen a large increase in the number of records, given the relatively small genome size and their important role as infectious and symbiotic agents. Humans are host to numerous pathogenic diseases, such as that by viruses, many of which are responsible for high mortality and morbidity. The interaction between pathogens and humans over the evolutionary history has resulted in sharing of sequences, with important biological and evolutionary implications.Publication Metadata only A very rare case of coexistence of ventricular noncompaction cardiomyopathy, myocardial bridging and atherosclerosis.Erdogan, Ercan; Akkaya, Mehmet; Bacaksiz, Ahmet; Tasal, Abdurrahman; Sevgili, EmrahNoncompaction of the ventricular myocardium is a rare congenital heart disease, presumably caused by the intrauterine arrest of the myocardial compaction process at the beginning of fetal development. It could remain asymptomatic or manifest with congestive heart failure, arrhythmias, and systemic thromboemboli. Here we report a 55-year-old man who was admitted to hospital with chest pain and dyspnea, whose further evaluation revealed left ventricular noncompaction cardiomyopathy accompanying myocardial bridging and stenosis of the right coronary artery.Publication Metadata only A Watershed Infarct Case Presenting Treatment Resistant Depressive Symptoms.Kilicarslan, Tezer; Sahbaz, CigdemPublication Metadata only Abbreviated and Standard Breast MRI in Neoadjuvant Chemotherapy Response Evaluation: A Comparative Study.Yirgin, Inci Kizildag; Engin, Gulgun; Yildiz, Şeyma; Aydin, Esra Cureoglu; Karanlik, Hasan; Cabioglu, Neslihan; Tukenmez, Mustafa; Emiroglu, Selman; Onder, Semen; Yildiz, Sevda Ozel; Yavuz, Ekrem; Saip, Pınar; Aydiner, Adnan; Igci, Abdullah; Muslumanoglu, MahmutThis study aims to investigate the efficacy of abbreviated breast magnetic resonance imaging (MRI) in neoadjuvant chemotherapy (NAC) response evaluation.Publication Metadata only Abdominal Wall Endometriosis.(2020-10-31T21:00:00Z) Destek, SabahattinPublication Metadata only Abnormal subcortical activity in congenital mirror movement disorder with RAD51 mutation.(2018-10-31T21:00:00Z) Demirayak, Pınar; Onat, Onur Emre; Gevrekci, Aslıhan Örs; Gülsüner, Süleyman; Uysal, Hilmi; Bilgen, Rengin S; Doerschner, Katja; Özçelik, Tayfun S; Boyacı, HüseyinCongenital mirror movement disorder (CMMD) is characterized by unintended, nonsuppressible, homologous mirroring activity contralateral to the movement on the intended side of the body. In healthy controls, unilateral movements are accompanied with predominantly contralateral cortical activity, whereas in CMMD, in line with the abnormal behavior, bilateral cortical activity is observed for unilateral motor tasks. However, task-related activities in subcortical structures, which are known to play critical roles in motor actions, have not been investigated in CMMD previously.Publication Metadata only [Accidental hypothermia (a case report)].(2006-06-30T21:00:00Z) Erkalp, Kerem; Yangin, Zehra; Başaranoğlu, Gökçen; Erden, VeyselSevere accidental hypothermia (core body temperature of less than 28 degrees C) is a life threatening state and a medical emergency associated with a high mortality rate. The prognosis depends on underlying diseases, advanced or very early age, the duration prior to treatment, the degree of hemodynamic deterioration, and especially, the methods of treatment, including active external or internal rewarming. We report a 70-year-old male patient with severe accidental hypothermia (core temperature 28 degrees C). The homeless man was found in the street. He died, in spite of all resuscitation efforts and rewarming methods. In this case report reviews the epidemiology, pathophysiology, clinical presentation, and treatment of accidental hypothermia.Publication Metadata only Accuracy of aMMP-8 point-of-care test in indicating periodontal treatment outcomes in stage III/IV periodontitis: A 24-week follow-up study.(2023-03-31T21:00:00Z) Yilmaz, Mustafa; Sorsa, Timo; Demir, Esra; Gürsoy, Mervi; Suominen, Auli; Tervahartiala, Taina; Räisänen, Ismo T; Gürsoy, Ulvi KTo analyse the correspondence between aMMP-8 PoC test results and the clinical endpoints of non-surgical periodontal treatment in stage III/IV periodontitis.Publication Metadata only Acetabular index and acetabular depth ratio in newborns and infants aged 6 months or less with the healthy development of hips: A retrospective cross-sectional study.(2023-04-20T21:00:00Z) Sari, Ahmet Sinan; Karakus, Ozgun; Gultekin, Muhammet Zeki; Senaran, HakanRadiographic assessment of the hip may render critical in the diagnosis of developmental dysplasia of the hip (DDH) in newborns and infants aged ≤6 months. There is no complete dataset on the acetabular index (AI) and acetabular depth ratio (ADR) values in this age group. The objective of this study was to assess the AI and ADR values in newborns and infants aged ≤6 months with healthy development. A retrospective analysis was performed on pelvic radiographs of newborns and infants (≤6 months) between August 2020 and September 2021. There were 3000 children with pelvic radiographic imaging. Normal sonographic findings and radiographs without any structural deformity of the hip were inclusion criteria. A total of 1132 newborns and infants (2264 hips) were analyzed. Measurements of AI and ADR (ischium and pubic bone as landmarks for acetabular depth ratio A [ADR-A] and acetabular depth ratio B [ADR-B]) were performed. Correlation and intraclass correlation coefficient (ICC) values were calculated. Left-sided AI values were significantly higher than the right-sided AI values, except in infants aged 4 to ≤5 months (P < .05). ADR-B values differed significantly between male and female newborns and infants both in terms of the side of the hip measured and age (P < .05). AI values were fairly correlated with age (r = -0.286 for left and r = -0.254 for right) in the negative direction and with ADR-A (r = 0.449 and r = 0.469 for left and right) and ADR-B (r = 0.545 and r = 0.592 for left and right) in the positive direction. Inter-observer ICC was 0.845 to 0.989 (excellent) for AI, 0.534 and 0.904 (moderate to excellent) for ADR-A, and -0.014 and 0.774 (slightly good to good) for ADR-B. Intra-observer ICC was 0.811 to 0.996 (excellent) for AI, 0.575 to 0.98 (moderate to excellent) for ADR-A, and 0.023 to 0.954 (slightly good to excellent) for ADR-B. This study features the first complete data set of AI and ADR measurements, which are essential for pelvic radiographic imaging of hip dysplasia, in newborns and infants aged ≤6 months.Publication Metadata only Acute otalgia during sleep (live insect in the ear): a case report.(2008-12-31T22:00:00Z) Erkalp, Kerem; Kalekoğlu Erkalp, Nuran; Ozdemir, HalukForeign bodies in the external auditory canal may cause otalgia, and live insects have been reported among the causes. A number of methods have been used to immobilize the live insects. In our manuscript, we describe immobilization of an insect and provision of analgesia using EMLA cream.Publication Metadata only Acute parkinsonism due to transdermal methanol intoxication: First report.(2023-03-29T21:00:00Z) Gozde, Baran; Ozlem, Gelisin; Gulsen, Yildiz BabacanIntroduction – Methanol is a colorless and highly toxic liquid similar to ethanol in odor and taste. Methanol intake can lead to severe metabolic acidosis, loss of vision, permanent neurological damage, and death.
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Case report – We report a case of a 19-year-old female patient who had no known disease history. A large portion of her back was covered in spirits for back pain and kept on for 2 days. Cranial magnetic resonance imaging (MRI) on the 5th day showed hyperintense pathologic signal changes in the T2 sequence without contrast enhancement in the bilateral frontal corticalsubcortical regions and basal ganglia. Following neurological examination of the patient, she was found to have bradymimia, marked resting tremor, bradykinesia, and dystonia on the right upper and lower extremities. Our case is important because it is the only case where parkinsonism developed as a result of acute transdermal methanol intoxication.