Browsing by Subject "Adolescent"
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Item Open Access Adjuvant autologous melanoma vaccine for macroscopic stage III disease: survival, biomarkers, and improved response to CTLA-4 blockade(Hindawi Limited, 2016) Lotem, M.; Merims, S.; Frank, S.; Hamburger, T.; Nissan, A.; Kadouri, L.; Cohen, J.; Straussman, R.; Eisenberg, G.; Frankenburg, S.; Carmon, E.; Alaiyan, B.; Shneibaum, S.; Ayyildiz, Z. O.; Isbilen, M.; Senses, K. M.; Ron, I.; Steinberg, H.; Smith, Y.; Shiloni, E.; Gure, A. O.; Peretz, T.Background. There is not yet an agreed adjuvant treatment for melanoma patients with American Joint Committee on Cancer stages III B and C. We report administration of an autologous melanoma vaccine to prevent disease recurrence. Patients and Methods. 126 patients received eight doses of irradiated autologous melanoma cells conjugated to dinitrophenyl and mixed with BCG. Delayed type hypersensitivity (DTH) response to unmodified melanoma cells was determined on the vaccine days 5 and 8. Gene expression analysis was performed on 35 tumors from patients with good or poor survival. Results. Median overall survival was 88 months with a 5-year survival of 54%. Patients attaining a strong DTH response had a significantly better (p = 0.0001) 5-year overall survival of 75% compared with 44% in patients without a strong response. Gene expression array linked a 50-gene signature to prognosis, including a cluster of four cancer testis antigens: CTAG2 (NY-ESO-2), MAGEA1, SSX1, and SSX4. Thirty-five patients, who received an autologous vaccine, followed by ipilimumab for progressive disease, had a significantly improved 3-year survival of 46% compared with 19% in nonvaccinated patients treated with ipilimumab alone (p = 0.007). Conclusion. Improved survival in patients attaining a strong DTH and increased response rate with subsequent ipilimumab suggests that the autologous vaccine confers protective immunity.Item Open Access Assessment of diagnostic enzyme-linked immunosorbent assay kit and serological markers in human brucellosis(2008) Cakan G.; Bezirci F.B.; Kacka, A.; Cesur, S.; Aksaray, S.; Tezeren, D.; Saka, D.; Ahmed, K.This study was performed to evaluate commercial brucella immunoglobulin G and M-enzymelinked immunosorbent assay (IgG and IgM ELISA) kits for the diagnosis of human brucellosis and to suggest a candidate prognostic marker for human brucellosis. We determined the serum levels of brucella IgG, IgM, C-reactive protein (CRP), soluble CD14 (sCD 14), and neopterin in patients with brucellosis and compared them with those of normal healthy persons, patients with tuberculosis, and patients with other diseases. It was found that the sensitivity of ELISA to diagnose brucellosis was high when both IgG and IgM ELISA were used together. This study showed that serum CRP, sCD14, or neopterin levels were significantly high during the course of human brucellosis. The above markers, alone or in combination, might have the potential to evaluate treatment outcomes in human brucellosis. The markers that can predict the variability of agglutination titer was also determined. It was found that the titer value alone does not fully represent disease status.Item Open Access Asymmetric dimethylarginine concentrations are elevated in women with gestational diabetes(2010) Akturk, M.; Altinova, A.; Mert I.; Dincel, A.; Sargin, A.; Buyukkagnici, U.; Arslan, M.; Danisman, N.As shown in the previous studies, asymmetric dimethylarginine (ADMA) is related to endothelial dysfunction, whereas high-sensitive C-reactive protein (hCRP) is the marker of inflammation. In our study, we investigated ADMA, hCRP, and homocysteine concentrations in women with gestational diabetes mellitus (GDM) and normal glucose tolerance (NGT) during late pregnancy. Fifty-four women with GDM and 69 women with NGT between 32 and 39 weeks of gestation were included in this study. ADMA, hCRP, homocysteine, lipid parameters, glycated hemoglobin (HbA1c) levels, insulin, and homeostasis model assessment for insulin resistance (HOMA-IR) were measured. The plasma ADMA concentrations were significantly higher in GDM patients than in NGT subjects (P = 0.03) and the hCRP levels were also significantly increased in GDM group when compared with those in the NGT group (P = 0.008). However, plasma homocysteine levels did not differ between the groups (P = 0.4), while HOMA-IR, insulin, and triglyceride levels were higher in the GDM group than in the NGT group (P = 0.001, 0.002, and 0.02, respectively). The ADMA concentrations in the third trimester were positively correlated with the glucose levels the 50-g glucose challenge test (GCT) during 24-28 weeks in the whole group (r = 0.21, P = 0.02). Our results demonstrate that ADMA and hCRP are elevated in women with GDM during late pregnancy. Further studies are needed to clarify the significance and the underlying mechanisms of the elevated ADMA and hCRP levels in women with GDM. © 2010 Springer Science+Business Media, LLC.Item Open Access Beyond the 'East-West' dichotomy: Global variation in cultural models of selfhood(American Psychological Association Inc., 2016) Vignoles, V. L.; Owe, E.; Becker, M.; Smith, P. B.; Easterbrook, M. J.; Brown, R.; González, R.; Didier, N.; Carrasco, D.; Cadena, M. P.; Lay, S.; Schwartz, S. J.; Rosiers, S. E. D.; Villamar, J. A.; Gavreliuc, A.; Zinkeng, M.; Kreuzbauer, R.; Baguma, P.; Martin, M.; Tatarko, A.; Herman, G.; de Sauvage, I.; Courtois, M.; Gardarsdóttir, R. B.; Harb, C.; Gallo, I. S.; Gil, P. P.; Clemares, R. L.; Campara, G.; Nizharadze, G.; Macapagal, M. E. J.; Jalal, B.; Bourguignon, D.; Zhang, J.; Lv, S.; Chybicka, A.; Yuki, M.; Zhang X.; Espinosa, A.; Valk, A.; Abuhamdeh, S.; Amponsah, B.; Özgen E.; Guner, E. Ü.; Yamakoglu, N.; Chobthamkit, P.; Pyszczynski, T.; Kesebir, P.; Trujillo, E. V.; Balanta, P.; Ayala, B. C.; Koller, S. H.; Jaafar, J. L.; Gausel, N.; Fischer, R.; Milfont, T. L.; Kusdil, E.; Çağlar, S.; Aldhafri, S.; Ferreira, M. C.; Mekonnen, K. H.; Wang, Q.; Fülöp, M.; Torres, A.; Camino, L.; Lemos, F. C. S.; Fritsche, I.; Möller, B.; Regalia, C.; Manzi, C.; Brambilla, M.; Bond, M. H.Markus and Kitayama's (1991) theory of independent and interdependent self-construals had a major influence on social, personality, and developmental psychology by highlighting the role of culture in psychological processes. However, research has relied excessively on contrasts between North American and East Asian samples, and commonly used self-report measures of independence and interdependence frequently fail to show predicted cultural differences. We revisited the conceptualization and measurement of independent and interdependent self-construals in 2 large-scale multinational surveys, using improved methods for cross-cultural research. We developed (Study 1: N = 2924 students in 16 nations) and validated across cultures (Study 2: N = 7279 adults from 55 cultural groups in 33 nations) a new 7-dimensional model of self-reported ways of being independent or interdependent. Patterns of global variation support some of Markus and Kitayama's predictions, but a simple contrast between independence and interdependence does not adequately capture the diverse models of selfhood that prevail in different world regions. Cultural groups emphasize different ways of being both independent and interdependent, depending on individualism-collectivism, national socioeconomic development, and religious heritage. Our 7-dimensional model will allow future researchers to test more accurately the implications of cultural models of selfhood for psychological processes in diverse ecocultural contexts. © 2016 American Psychological Association.Item Open Access Coagulation factor V gene mutation increases the risk of venous thrombosis in Behcet's disease(Oxford University Press, 1996) Gül, A.; Özbek, U.; Öztürk, C.; Inanç, M.; Koniçe, M.; Özçelik, T.We investigated the prevalence of the coagulation factor V gene G1691A mutation in 64 patients with Behcet's disease (BD) and in 107 apparently healthy individuals. The mutation was present in the heterozygous state in 37.5% of the patients with a history of deep vein thrombosis (12/32) and in 9.4% of the patients without any thrombotic event (3/32). Eleven healthy individuals were also heterozygous for the mutation (10.3%). The prevalence of the mutation in BD patients with and without thrombosis was significantly different (P = 0.0079). We conclude that the factor V gene mutation may play a major role in the development of venous thrombosis in BD.Item Restricted Çocuk ruh sağlığı ve psikiyatrisini Türkiye’ye tanıtan doktor: Atalay Yörükoğlu(Bilkent University, 2020) Yörükoğlu, Emel Yasemin; Çimşit, Deniz; Bayar, Utku; Acar, Alara; Kınay, Emre CanÇocuk ve Ergen Psikiyatrisi, çocukluk ve ergenlik dönemindeki bireylerin akıl sağlığıyla ilgilenir. Bu Anabilim Dalının Türkiye’de kuruculuğunu üstlenen Profesör Doktor Atalay Yörükoğlu’nun hayatı, makalemizin ana konusudur. Konumuz akademik kariyerinin yanında Atalay Yörükoğlu’nun kim olduğunu ve bu ilki nasıl gerçekleştirdiğini de kapsamaktadır. Bu açıdan tıpkı kendisinin çocuk ruh sağlığını inceleyerek insanın temeline inmeyi amaçladığı gibi biz de onun hayat hikayesinin ve Türk toplumuna sağladığı katkıların temellerine inmeyi amaçladık. Makalemizde sırasıyla Çocuk Psikiyatrisinin dünyadaki ve Türkiye’deki tarihinden başlayarak Atalay Yörükoğlu’nun kişisel hayatı, eğitim süreci, kariyeri hayatı, ortaya koyduğu eserler ve Türkiye’ye sağladığı katkılar incelenmiştir.Item Open Access Cognitive and emotional representations of terror attacks: a cross-cultural exploration(Wiley-Blackwell Publishing, 2007) Shiloh, S.; Güvenç, G.; Önkal D.A questionnaire measuring cognitive and affective representations of terror risk was developed and tested in Turkey and Israel. Participants in the study were university students from the two countries (n = 351). Four equivalent factors explained terror risk cognitions in each sample: costs, vulnerability, trust, and control. A single negative emotionality factor explained the affective component of terror risk representations in both samples. All factors except control could be measured reliably. Results supported the validity of the questionnaire by showing expected associations between cognitions and emotions, as well as indicating gender differences and cultural variations. Current findings are discussed in relation to previous results, theoretical approaches, and practical implications.Item Open Access Cultural Bases for Self-Evaluation: Seeing Oneself Positively in Different Cultural Contexts(SAGE Publications Inc., 2014) Becker, M.; Vignoles, V. L.; Owe, E.; Easterbrook, M. J.; Brown, R.; Smith, P. B.; Bond, M. H.; Regalia, C.; Manzi, C.; Brambilla, M.; Aldhafri, S.; González, R.; Carrasco, D.; Cadena, M. P.; Lay, S.; Gallo I. S.; Torres, A.; Camino L.; Özgen E.; Güner, Ü.E.; Yamakoğlu, N.; Lemos, F. C. S.; Trujillo, E. V.; Balanta, P.; Macapagal, M. E. J.; Ferreira, M. C.; Herman, G.; de Sauvage, I.; Bourguignon, D.; Wang, Q.; Fülöp, M.; Harb, C.; Chybicka, A.; Mekonnen, K. H.; Martin, M.; Nizharadze, G.; Gavreliuc, A.; Buitendach J.; Valk, A.; Koller, S. H.Several theories propose that self-esteem, or positive self-regard, results from fulfilling the value priorities of one's surrounding culture. Yet, surprisingly little evidence exists for this assertion, and theories differ about whether individuals must personally endorse the value priorities involved. We compared the influence of four bases for self-evaluation (controlling one's life, doing one's duty, benefitting others, achieving social status) among 4,852 adolescents across 20 cultural samples, using an implicit, within-person measurement technique to avoid cultural response biases. Cross-sectional and longitudinal analyses showed that participants generally derived feelings of self-esteem from all four bases, but especially from those that were most consistent with the value priorities of others in their cultural context. Multilevel analyses confirmed that the bases of positive self-regard are sustained collectively: They are predictably moderated by culturally normative values but show little systematic variation with personally endorsed values. © 2014 by the Society for Personality and Social Psychology, Inc.Item Open Access Determinants of choosing withdrawal over modern contraceptive methods in Turkey(Taylor & Francis, 2008) Cindoglu, D.; Sirkeci, I.; Sirkeci, R. F.Objectives The determinants of the use of withdrawal in Turkey are examined using a multinomial logistic model. Methods Data were drawn from a nation-wide population-based cross-sectional study, the Turkish Demographic Health Surveys that took place in 1998 and 2003. Detailed interviews were conducted with 8576 women aged 15-49 and analysed using SPSS. Results Contextual, cultural and demographic characteristics define women's choice of withdrawal over modern methods. Socio-economic status, education, employment status, and past fertility behaviour are among key determinants. First-ever used contraception method has a very strong impact on later choices. Urban women, the more educated, those with better socioeconomic status, and those living in less crowded households resort less to withdrawal. Experience and empowerment positively linked to modern contraceptive use among women in Turkey. Conclusions The use of contraceptive methods in Turkey differs greatly. Empowerment of women in terms of better socioeconomic status, better education, modern and liberal attitudes towards women and family planning seem to reduce withdrawal use as the main method of contraception. The results suggest the need for education (particularly targeting young women and couples), information and provision of modern contraceptive services particularly for disadvantaged groups.Item Open Access Diagnosis of gastric carcinoma by classification on feature projections(Elsevier, 2004) Güvenir, H. A.; Emeksiz, N.; İkizler, N.; Örmeci, N.A new classification algorithm, called benefit maximizing classifier on feature projections (BCFP), is developed and applied to the problem of diagnosis of gastric carcinoma. The domain contains records of patients with known diagnosis through gastroscopy results. Given a training set of such records, the BCFP classifier learns how to differentiate a new case in the domain. BCFP represents a concept in the form of feature projections on each feature dimension separately. Classification in the BCFP algorithm is based on a voting among the individual predictions made on each feature. In the gastric carcinoma domain, a lesion can be an indicator of one of nine different levels of gastric carcinoma, from early to late stages. The benefit of correct classification of early levels is much more than that of late cases. Also, the costs of wrong classifications are not symmetric. In the training phase, the BCFP algorithm learns classification rules that maximize the benefit of classification. In the querying phase, using these rules, the BCFP algorithm tries to make a prediction maximizing the benefit. A genetic algorithm is applied to select the relevant features. The performance of the BCFP algorithm is evaluated in terms of accuracy and running time. The rules induced are verified by experts of the domain. © 2004 Elsevier B.V. All rights reserved.Item Open Access Discrimination against teenagers in the mall environment: a case from Ankara, Turkey(Libra Publishers, 2009-02) Mugan, G.; Erkip, F.Teenagers spend much of their leisure time at shopping malls which is a result of factors such as parental constraint due to the incivility of the streets, financial dependence, and limited financial resources. Migros, a shopping mall in Ankara was chosen as the sit for this research wiht the main purpose of studying discrimination patterns against teenagers in the mall environment. The research was carried out through observation and in-depth interviews with 104 teenagers. Results indicate that, although they have some complaints, most of the teenagers do not perceive discrimination in the mall, unlike their foreign counterparts.Item Open Access Distinct regulation of tonsillar immune response in virus infection(Wiley-Blackwell Publishing Ltd., 2014) Jartti, T.; Palomares, O.; Waris, M.; Tastan, O.; Nieminen, R.; Puhakka, T.; Rückert, B.; Aab, A.; Vuorinen, T.; Allander, T.; Vahlberg, T.; Ruuskanen, O.; Akdis, M.; Akdis, C. A.Background: The relationships between tonsillar immune responses, and viral infection and allergy are incompletely known. Objective To study intratonsillar/nasopharyngeal virus detections and in vivo expressions of T-cell- and innate immune response-specific cytokines, transcription factors, and type I/II/III interferons in human tonsils. Methods: Palatine tonsil samples were obtained from 143 elective tonsillectomy patients. Adenovirus, bocavirus-1, coronavirus, enteroviruses, influenza virus, metapneumovirus, parainfluenza virus, rhinovirus, and respiratory syncytial virus were detected using PCR. The mRNA expression levels of IFN-α, IFN-β, IFN-γ, IL-10, IL-13, IL-17, IL-28, IL-29, IL-37, TGF-β, FOXP3, GATA3, RORC2, and Tbet were directly analyzed by quantitative RT-PCR. Results Fifty percentage of subjects reported allergy, 59% had ≥1 nasopharyngeal viruses, and 24% had ≥1 intratonsillar viruses. Tonsillar virus detection showed a strong negative association with age; especially rhinovirus or parainfluenza virus detection showed positive association with IFN-γ and Tbet expressions. IL-37 expression was positively associated with atopic dermatitis, whereas IFN-α, IL-13, IL-28, and Tbet expressions were negatively associated with allergic diseases. Network analyses demonstrated strongly polarized clusters of immune regulatory (IL-10, IL-17, TGF-β, FOXP3, GATA3, RORC2, Tbet) and antiviral (IFN-α, IFN-β, IL-28, IL-29) genes. These two clusters became more distinctive in the presence of viral infection or allergy. A negative correlation between antiviral cytokines and IL-10, IL-17, IL-37, FOXP3, and RORC2 was observed only in the presence of viruses, and interestingly, IL-13 strongly correlated with antiviral cytokines. Conclusions: Tonsillar cytokine expression is closely related to existing viral infections, age, and allergic illnesses and shows distinct clusters between antiviral and immune regulatory genes. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.Item Open Access Effects of coloured lighting on the perception of interior spaces(SAGE, 2015-02-01) Odabaşioğlu, S.; Olguntürk, N.Use of coloured lighting in interior spaces has become prevalent in recent years. Considerable importance is ascribed to coloured lighting in interior and lighting design. The effects of colour on the perception of interior spaces have been studied as surface colour; but here, the effects of three different types of chromatic light were investigated. The lighting differed in colour (red, green and white) and perceptions of interior space were assessed. 97 participants (59 women, 38 men; M age = 21.4 yr.) evaluated the experiment room on a questionnaire assessing eight evaluative factors: Pleasantness, Arousal, Aesthetics, Usefulness, Comfort, Spaciousness, Colour, and Lighting quality. Perceptions of the room differed by colour of lighting for some of the evaluative factors, but there was no sex difference in perceptions. Interior spaces may be perceived as equally pleasant under white, green and red lighting. Under white lighting a space is perceived as more useful, spacious, clear, and luminous. Green lighting would make the same effect. Green and white lighting were perceived equally comfortable in an interior space. Chromatic coloured lighting was perceived to be more aesthetic than white lighting. The results support previous findings for some evaluative factors, but differed for others.Item Open Access Evaluation of chimerism with DNA polymorphisms in bone marrow transplantation(International Children's Center (I C C), 1997) Özbek, U.; Vural, B.; Kalayoǧlu, S.; Soysal, T.; Bilgen, H.; Yavuz, S.; Anak, S.; Sargın, D.; Gedikoǧlu G.; Ferhanoǧlu, Burhan; Akoǧlu, T.; Tangün, Y.; Özçelik, TayfunEvaluation of chimeric status following allogenlc BMT is an Important tool for monitoring the replacement of host cells with donor cells and for determining the risk of relapse. Polymorphic DNA sequences can be used as powerful markers in identification of donor/recipient genotype differences, even between close relatives. Polymerase chain reaction (PCR) amplification of three variable number of tandem repeat (VNTR) loci and five single-locus polymorphisms (SLP) was used to identify chimerism in 40 recipient-donor pairs. Mixed chimerism was present in 11 patients, and complete chimerism in 29. This PCR method is a rapid and sensitive assay to detect engraftment and evaluate relapse potential, and thus is very useful in the clinical management of BMT patients.Item Open Access Exploring the sociotropy-autonomy dimensions in a sample of Turkish psychiatric inpatients(Wiley, 1993) Sahin, N.; Ulusoy, M.; Sahin, N.The present study explored the constructs of sociotropy and autonomy with a group of Turkish depressed inpatients, who were administered the Beck Depression Inventory, the Dysfunctional Attitudes Scale, the Automatic Thoughts Questionnaire, and the Sociotropy-Autonomy Scale. A comparison group of students from three SES levels also were included in the study. Comparisons were made on the scale scores among the non-dysphoric students, the dysphoric students, and the depressed patients. The results seem to support the relationship of sociotropy with other depression measures in both samples. However, several problems were encountered with the construct autonomy as it is conceptualized in the Sociotropy-Autonomy Scale.Item Open Access How the ocean personality model affects the perception of crowds(Institute of Electrical and Electronics Engineers, 2011) Durupınar, F.; Pelechano, N.; Allbeck, J. M.; Güdükbay, Uğur; Badler, N. I.A personality model named High-Density Autonomous Crowds (HiDAC) simulation system provides individual differences by assigning each person different psychological and physiological traits. Users normally set these parameters to model a crowd's nonuniformity and diversity. The approach creates plausible variations in the crowd and enables novice users to dictate these variations by combining a standard personality model with a high-density crowd simulation. HiDAC addresses the simulation of local behaviors and the global wayfinding of crowds in a dynamically changing environment. It directs autonomous agents' behavior by combining geometric and psychological rules. HiDAC handles collisions through avoidance and response forces. Over long distances, the system applies collision avoidance so that agents can steer around obstacles. HiDAC assigns people specific behaviors. The number of actions they complete depends on their curiosity.Item Open Access Increased frequency of extremely skewed X chromosome inactivation in juvenile idiopathic arthritis(John Wiley & Sons, Inc., 2009) Uz, E.; Mustafa, C.; Topaloglu, R.; Bilginer, Y.; Dursun, A.; Kasapcopur, O.; Ozen, S.; Bakkaloglu, A.; Ozcelik, T.Objective. Juvenile idiopathic arthritis (JIA) is a childhood rheumatic disease of unknown etiology. Two subgroups of JIA, i.e., oligoarticular and polyarticular, are thought to have an autoimmune component, and show a higher female:male ratio. Skewed X chromosome inactivation (XCI) has previously been shown to be associated with scleroderma and autoimmune thyroiditis, 2 autoimmune disorders occurring predominantly in females. This study was undertaken to extend the analysis to the pediatric age group and to determine the XCI profiles of patients with JIA.Item Open Access Lack of association between RNASEL Arg462Gln variant and the risk of breast cancer(International Institute of Anticancer Research, 2004) Sevinç, A.; Yannoukakos, D.; Konstantopoulou, I.; Manguoglu, E.; Lüleci, G.; Çolak, T.; Akyerli, C.; Çolakoglu, G.; Tez, M.; Sayek, I.; Gerassimos, V.; Nasioulas, G.; Papadopoulou, E.; Florentin, L.; Kontogianni, E.; Bozkurt, B.; Kocabas, N. A.; Karakaya, A. E.; Yulug, I. G.; Özçelik, T.Background: The RNASEL G1385A variant was recently found to be implicated in the development of prostate cancer. Considering the function of RNase L and the pleiotropic effects of mutations associated with cancer, we sought to investigate whether the RNASEL G1385A variant is a risk factor for breast cancer. Patients and Methods: A total of 453 breast cancer patients and 382 age- and sex-matched controls from Greece and Turkey were analyzed. Genotyping for the RNASEL G1385A variant was performed using an Amplification Refractory Mutation System (ARMS). Results: Statistical evaluation of the RNASEL G1385A genotype distribution among breast cancer patients and controls revealed no significant association between the presence of the risk genotype and the occurrence of breast cancer. Conclusion: Although an increasing number of studies report an association between the RNASEL G1385A variant and prostate cancer risk, this variant does not appear to be implicated in the development of breast cancer.Item Open Access Major bacteria of community-acquired respiratory tract infections in Turkey(National Institute Of Infectious Diseases,, 2005) Ozyılmaz, E.; Akan, O. A.; Gulhan, M.; Ahmed, K.; Nagatake, T.To determine the bacterial etiology of lower respiratory tract infections (LRTIs) in Turkey, quantitative cultures of sputum were carried out. The major pathogens for LTRIs were found to be Haemophilus influenzae, followed by Streptococcus pneumoniae and Moraxella catarrhalis. Only 6.1% of the H. inlfuenzae and all strains of M. catarrhalis were β-lactamase producers. An E-test showed that 31.2% of the S. pneumoniae strains had an intermediate resistance to penicillin, and the remaining strains were susceptible; no fully resistant strains were detected.Item Open Access Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: A novel gene related to nuclear envelopathies(Elsevier Ltd, 2014) Kayman-Kurekci G.; Talim, B.; Korkusuz P.; Sayar, N.; Sarioglu, T.; Oncel I.; Sharafi P.; Gundesli H.; Balci-Hayta, B.; Purali, N.; Serdaroglu-Oflazer P.; Topaloglu H.; Dincer P.We performed genome-wide homozygosity mapping and mapped a novel myopathic phenotype to chromosomal region 1q25 in a consanguineous family with three affected individuals manifesting proximal and distal weakness and atrophy, rigid spine and contractures of the proximal and distal interphalangeal hand joints. Additionally, cardiomyopathy and respiratory involvement were noted. DNA sequencing of torsinA-interacting protein 1 (TOR1AIP1) gene encoding lamina-associated polypeptide 1B (LAP1B), showed a homozygous c.186delG mutation that causes a frameshift resulting in a premature stop codon (p.E62fsTer25). We observed that expression of LAP1B was absent in the patient skeletal muscle fibres. Ultrastructural examination showed intact sarcomeric organization but alterations of the nuclear envelope including nuclear fragmentation, chromatin bleb formation and naked chromatin. LAP1B is a type-2 integral membrane protein localized in the inner nuclear membrane that binds to both A- and B-type lamins, and is involved in the regulation of torsinA ATPase. Interestingly, luminal domain-like LAP1 (LULL1)-an endoplasmic reticulum-localized partner of torsinA-was overexpressed in the patient's muscle in the absence of LAP1B. Therefore, the findings suggest that LAP1 and LULL1 might have a compensatory effect on each other. This study expands the spectrum of genes associated with nuclear envelopathies and highlights the critical function for LAP1B in striated muscle. © 2014 Elsevier B.V.