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1. GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway

Author

Park, Ann Y., Leney-Greene, Michael, Lynberg, Matthew, Gabrielski, Justin Q., Xu, Xijin, Schwarz, Benjamin, Zheng, Lixin, Balasubramaniyam, Arasu, Ham, Hyoungjun, Chao, Brittany, Zhang, Yu, Matthews, Helen F., Cui, Jing, Yao, Yikun, Kubo, Satoshi, Chanchu, Jean Michel, Morawski, Aaron R., Cook, Sarah A., Jiang, Ping, Ravell, Juan C., Cheng, Yan H., George, Alex, Faruqi, Aiman, Pagalilauan, Alison M., Bergerson, Jenna R. E., Ganesan, Sundar, Chauvin, Samuel D., Aluri, Jahnavi, Edwards-Hicks, Joy, Bohrnsen, Eric, Tippett, Caroline, Omar, Habib, Xu, Leilei, Butcher, Geoffrey W., Pascall, John, Karakoc-Aydiner, Elif, Kiykim, Ayca, Maecker, Holden, Tezcan, İlhan, Esenboga, Saliha, Heredia, Raul Jimenez, Akata, Deniz, Tekin, Saban, Kara, Altan, Kuloglu, Zarife, Unal, Emel, Kendirli, Tanıl, Dogu, Figen, Karabiber, Esra, Atkinson, T. Prescott, Cochet, Claude, Filhol, Odile, Bosio, Catherine M., Davis, Mark M., Lifton, Richard P., Pearce, Erika L., Daumke, Oliver, Aytekin, Caner, Şahin, Gülseren Evirgen, Aksu, Aysel Ünlüsoy, Uzel, Gulbu, Koneti Rao, V., Sari, Sinan, Dalgıç, Buket, Boztug, Kaan, Cagdas, Deniz, Haskologlu, Sule, Ikinciogullari, Aydan, Schwefel, David, Vilarinho, Silvia, Baris, Safa, Ozen, Ahmet, Su, Helen C., and Lenardo, Michael J.

Published
2024
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2. Author Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway

Author

Park, Ann Y., Leney-Greene, Michael, Lynberg, Matthew, Gabrielski, Justin Q., Xu, Xijin, Schwarz, Benjamin, Zheng, Lixin, Balasubramaniyam, Arasu, Ham, Hyoungjun, Chao, Brittany, Zhang, Yu, Matthews, Helen F., Cui, Jing, Yao, Yikun, Kubo, Satoshi, Chanchu, Jean Michel, Morawski, Aaron R., Cook, Sarah A., Jiang, Ping, Ravell, Juan C., Cheng, Yan H., George, Alex, Faruqi, Aiman, Pagalilauan, Alison M., Bergerson, Jenna R. E., Ganesan, Sundar, Chauvin, Samuel D., Aluri, Jahnavi, Edwards-Hicks, Joy, Bohrnsen, Eric, Tippett, Caroline, Omar, Habib, Xu, Leilei, Butcher, Geoffrey W., Pascall, John, Karakoc-Aydiner, Elif, Kiykim, Ayca, Maecker, Holden, Tezcan, İlhan, Esenboga, Saliha, Heredia, Raul Jimenez, Akata, Deniz, Tekin, Saban, Kara, Altan, Kuloglu, Zarife, Unal, Emel, Kendirli, Tanıl, Dogu, Figen, Karabiber, Esra, Atkinson, T. Prescott, Cochet, Claude, Filhol, Odile, Bosio, Catherine M., Davis, Mark M., Lifton, Richard P., Pearce, Erika L., Daumke, Oliver, Aytekin, Caner, Şahin, Gülseren Evirgen, Aksu, Aysel Ünlüsoy, Uzel, Gulbu, Koneti Rao, V., Sari, Sinan, Dalgıç, Buket, Boztug, Kaan, Cagdas, Deniz, Haskologlu, Sule, Ikinciogullari, Aydan, Schwefel, David, Vilarinho, Silvia, Baris, Safa, Ozen, Ahmet, Su, Helen C., and Lenardo, Michael J.

Published
2024
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4. Macroscopic hematuria in a child with portal hypertension: Answers

Author

Leventoglu, Emre, Büyükkaragöz, Bahar, Kenan, Bahriye Uzun, Sari, Sinan, and Bakkaloglu, Sevcan A.

Subjects
Children -- Diseases, Portal hypertension -- Complications and side effects -- Care and treatment, Hematuria -- Diagnosis -- Risk factors -- Care and treatment, Health
Abstract

Author(s): Emre Leventoglu [sup.1] , Bahar Büyükkaragöz [sup.1] , Bahriye Uzun Kenan [sup.1] , Sinan Sari [sup.2] , Sevcan A. Bakkaloglu [sup.1] Author Affiliations: (1) grid.25769.3f, 0000 0001 2169 7132, [...]

Published
2021
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5. Broadly effective metabolic and immune recovery with C5 inhibition in CHAPLE disease

Author

Ozen, Ahmet, Kasap, Nurhan, Vujkovic-Cvijin, Ivan, Apps, Richard, Cheung, Foo, Karakoc-Aydiner, Elif, Akkelle, Bilge, Sari, Sinan, Tutar, Engin, Ozcay, Figen, Uygun, Dilara Kocacik, Islek, Ali, Akgun, Gamze, Selcuk, Merve, Sezer, Oya Balci, Zhang, Yu, Kutluk, Gunsel, Topal, Erdem, Sayar, Ersin, Celikel, Cigdem, Houwen, Roderick H. J., Bingol, Aysen, Ogulur, Ismail, Eltan, Sevgi Bilgic, Snow, Andrew L., Lake, Camille, Fantoni, Giovanna, Alba, Camille, Sellers, Brian, Chauvin, Samuel D., Dalgard, Clifton L., Harari, Olivier, Ni, Yan G., Wang, Ming-Dauh, Devalaraja-Narashimha, Kishor, Subramanian, Poorani, Ergelen, Rabia, Artan, Reha, Guner, Sukru Nail, Dalgic, Buket, Tsang, John, Belkaid, Yasmine, Ertem, Deniz, Baris, Safa, and Lenardo, Michael J.

Published
2021
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6. Macroscopic hematuria in a child with portal hypertension: Questions

Author

Leventoglu, Emre, Büyükkaragöz, Bahar, Kenan, Bahriye Uzun, Sari, Sinan, and Bakkaloglu, Sevcan A.

Subjects
Children -- Diseases, Portal hypertension -- Diagnosis -- Complications and side effects -- Care and treatment, Hematuria -- Diagnosis -- Risk factors -- Care and treatment, Health
Abstract

Author(s): Emre Leventoglu [sup.1] , Bahar Büyükkaragöz [sup.1] , Bahriye Uzun Kenan [sup.1] , Sinan Sari [sup.2] , Sevcan A. Bakkaloglu [sup.1] Author Affiliations: (1) grid.25769.3f, 0000 0001 2169 7132, [...]

Published
2021
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12. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

Author

Leiding, Jennifer W., primary, Vogel, Tiphanie P., additional, Santarlas, Valentine G.J., additional, Mhaskar, Rahul, additional, Smith, Madison R., additional, Carisey, Alexandre, additional, Vargas-Hernández, Alexander, additional, Silva-Carmona, Manuel, additional, Heeg, Maximilian, additional, Rensing-Ehl, Anne, additional, Neven, Bénédicte, additional, Hadjadj, Jérôme, additional, Hambleton, Sophie, additional, Ronan Leahy, Timothy, additional, Meesilpavikai, Kornvalee, additional, Cunningham-Rundles, Charlotte, additional, Dutmer, Cullen M., additional, Sharapova, Svetlana O., additional, Taskinen, Mervi, additional, Chua, Ignatius, additional, Hague, Rosie, additional, Klemann, Christian, additional, Kostyuchenko, Larysa, additional, Morio, Tomohiro, additional, Thatayatikom, Akaluck, additional, Ozen, Ahmet, additional, Scherbina, Anna, additional, Bauer, Cindy S., additional, Flanagan, Sarah E., additional, Gambineri, Eleonora, additional, Giovannini-Chami, Lisa, additional, Heimall, Jennifer, additional, Sullivan, Kathleen E., additional, Allenspach, Eric, additional, Romberg, Neil, additional, Deane, Sean G., additional, Prince, Benjamin T., additional, Rose, Melissa J., additional, Bohnsack, John, additional, Mousallem, Talal, additional, Jesudas, Rohith, additional, Santos Vilela, Maria Marluce Dos, additional, O’Sullivan, Michael, additional, Pachlopnik Schmid, Jana, additional, Průhová, Štěpánka, additional, Klocperk, Adam, additional, Rees, Matthew, additional, Su, Helen, additional, Bahna, Sami, additional, Baris, Safa, additional, Bartnikas, Lisa M., additional, Chang Berger, Amy, additional, Briggs, Tracy A., additional, Brothers, Shannon, additional, Bundy, Vanessa, additional, Chan, Alice Y., additional, Chandrakasan, Shanmuganathan, additional, Christiansen, Mette, additional, Cole, Theresa, additional, Cook, Matthew C., additional, Desai, Mukesh M., additional, Fischer, Ute, additional, Fulcher, David A., additional, Gallo, Silvanna, additional, Gauthier, Amelie, additional, Gennery, Andrew R., additional, Gonçalo Marques, José, additional, Gottrand, Frédéric, additional, Grimbacher, Bodo, additional, Grunebaum, Eyal, additional, Haapaniemi, Emma, additional, Hämäläinen, Sari, additional, Heiskanen, Kaarina, additional, Heiskanen-Kosma, Tarja, additional, Hoffman, Hal M., additional, Gonzalez-Granado, Luis Ignacio, additional, Guerrerio, Anthony L., additional, Kainulainen, Leena, additional, Kumar, Ashish, additional, Lawrence, Monica G., additional, Levin, Carina, additional, Martelius, Timi, additional, Neth, Olaf, additional, Olbrich, Peter, additional, Palma, Alejandro, additional, Patel, Niraj C., additional, Pozos, Tamara, additional, Preece, Kahn, additional, Lugo Reyes, Saúl Oswaldo, additional, Russell, Mark A., additional, Schejter, Yael, additional, Seroogy, Christine, additional, Sinclair, Jan, additional, Skevofilax, Effie, additional, Suan, Daniel, additional, Suez, Daniel, additional, Szabolcs, Paul, additional, Velasco, Helena, additional, Warnatz, Klaus, additional, Walkovich, Kelly, additional, Worth, Austen, additional, Seppänen, Mikko R.J., additional, Torgerson, Troy R., additional, Sogkas, Georgios, additional, Ehl, Stephan, additional, Tangye, Stuart G., additional, Cooper, Megan A., additional, Milner, Joshua D., additional, Forbes Satter, Lisa R., additional, Aleshkevich, Svetlana, additional, Allende, Luis M., additional, Atkinson, T. Prescott, additional, Atschekzei, Faranaz, additional, Aydemir, Sezin, additional, Aygunes, Utku, additional, Barlogis, Vincent, additional, Baumann, Ulrich, additional, Belko, John, additional, Bezrodnik, Liliana, additional, Biebl, Ariane, additional, Broderick, Lori, additional, Bunin, Nancy J., additional, Caldirola, Maria Soledad, additional, Castelle, Martin, additional, Celmeli, Fatih, additional, Charbonnier, Louis-Marie, additional, Chatila, Talal A., additional, Chellapandian, Deepak, additional, Cokugras, Haluk, additional, Conlon, Niall, additional, Cox, Fionnuala, additional, Crickx, Etienne, additional, Dalgic, Buket, additional, ASH Dalm, Virgil, additional, Danielian, Silvia, additional, Dominguez-Pinilla, Nerea, additional, Dujovny, Tal, additional, Ebbo, Mikael, additional, Eken, Ahmet, additional, Esty, Brittany, additional, Fabre, Alexandre, additional, Fischer, Alain, additional, Hannibal, Mark, additional, Huppert, Laura, additional, Ikeda, Marc D., additional, Jolles, Stephen, additional, Jolly, Kent W., additional, Jones, Neil, additional, Kanariou, Maria, additional, Karakoc-Aydiner, Elif, additional, Karamantziani, Theoni, additional, Kelaidi, Charikleia, additional, Keogan, Mary, additional, Pac Kisaarslan, Ayşenur, additional, Kiykim, Ayca, additional, Kotsonis, Kosmas, additional, Kuzmenko, Natalia, additional, Leroy, Sylvie, additional, Lianou, Dimitra, additional, Longhurst, Hilary, additional, Lorenz, Myriam Ricarda, additional, Maffucci, Patrick, additional, Manson, Ania, additional, Marchal, Sarah, additional, Malphettes, Marion, additional, Marega, Lia Furlaneto, additional, Mauracher, Andrea A., additional, Miller, Holly, additional, Mombourquette, Joy, additional, Morgan, Noel G., additional, Mukhina, Anna, additional, Nathalie, Aladjidi, additional, Nelken, Brigitte, additional, Nolan, David, additional, Norlin, Anna-Carin, additional, Oleastro, Matias, additional, Ozcan, Alper, additional, Pasquet, Marlene, additional, Pegler, José Roberto, additional, Picard, Capucine, additional, Polychronopoulou, Sophia, additional, Quartier, Pierre, additional, Quesada, Juan Francisco, additional, Ramakers, Jan, additional, Randall, Katrina L., additional, Rao, V. Koneti, additional, Remiker, Allison, additional, Resin, Geraldine, additional, Richmond, Peter, additional, Rieux-Laucat, Frederic, additional, Rodina, Yulia, additional, Rohrlich, Pierre, additional, Sachs, Johnathan, additional, Sakovich, Inga, additional, Santarlas, Christopher, additional, Sari, Sinan, additional, Sawicki, Gregory, additional, Schauer, Uwe, additional, Scheffler Mendoza, Selma C., additional, Schvetz, Oksana, additional, Schmidt, Reinhold Ernst, additional, Schwarz, Klaus, additional, Sediva, Anna, additional, Sinclair, Kyle, additional, Slatter, Mary, additional, Sleasman, John, additional, Stergiou, Katerina, additional, Suratannon, Narissara, additional, Tanita, Kay, additional, Thompson, Grace, additional, Travis, Stephen, additional, Trojan, Timothy, additional, Tsinti, Maria, additional, Unal, Ekrem, additional, Urdinez, Luciano, additional, Vazquez-Gomez, Felisa, additional, Villa, Mariana, additional, Weinrich, Michael, additional, Weiss, Mitchell J., additional, Wright, Benjamin, additional, Yilmaz, Ebru, additional, Zachova, Radana, additional, and Zhang, Yu, additional

Published
2023
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14. Oropharyngeal Dysphagia in Children with Eosinophilic Esophagitis

Author

Elbasan, Bülent, Bakirtas, Arzu, Ertoy Karagol, HACER İLBİLGE, Sari, SİNAN, Keles, MÜŞERREFE NUR, Serel Arslan, Selen, Egritas Gurkan, ÖDÜL, and Dalgic, Buket

Subjects
Speech and Hearing, Otorhinolaryngology, Gastroenterology
Abstract

Dysphagia is the most troublesome symptom of eosinophilic esophagitis (EoE). This study aimed to investigate oropharyngeal dysphagia in children with EoE and possible related factors. Children with a definite diagnosis of EoE were included in the study. Medical and feeding histories were recorded. A disease control level was determined for each child. An oral structure examination, the Turkish version of the Mastication and Observation Evaluation (T-MOE), the Pediatric version of the Eating Assessment Tool-10 (PEDI-EAT-10) and the 3-oz water swallow test were applied in screening for oropharyngeal dysphagia. Fifty-two children participated in the study. Oropharyngeal dysphagia took the form of abnormal swallowing (PEDI-EAT-10 score >= 4) and increased aspiration risk (PEDI- EAT-10 score >= 13) in 51.9% and 25.0% of the children, respectively. Seven children failed the 3-oz water swallow test. Abnormal swallowing and aspiration risk were significantly higher in children with prolonged mealtimes, impaired chewing function, and uncontrolled disease (p < 0.05). Chewing function was the most important risk factor for abnormal swallowing and increased aspiration (R-2 = 0.36, R-2 = 0.52, p < 0.001, respectively). Oropharyngeal dysphagia is common in children with EoE and associated with increased aspiration risk in a subpopulation. Uncontrolled disease, prolonged mealtimes, and impaired chewing function may provide clues for oropharyngeal dysphagia in EoE.

Published
2023

16. Is the Pediatric Eosinophilic Esophagitis Symptom Score v2.0 reliable for telemedicine?

Author

POLAT TERECE, Sinem, YAPAR, Dilek, ERTOY KARAGÖL, Hacer İlbilge, KÖKEN, Gizem, TEKER DÜZTAŞ, Demet, EĞRİTAŞ GÜRKAN, Ödül, SARI, Sinan, DALGIÇ, Buket, and BAKIRTAŞ, Arzu

Subjects
EOSINOPHILIC esophagitis, TELEMEDICINE, INTRACLASS correlation, SYMPTOMS, TEST reliability
Abstract

Background/aim: Eosinophilic esophagitis (EoE) is a chronic immune-mediated disease. Telemedicine is a healthcare technology used when a patient is separated by distance. The reliability of the Pediatric Eosinophilic Esophagitis Symptom Score, version 2.0 (PEESS v2.0) for telemedicine applications, has not been studied yet. Therefore, we aimed to evaluate the reliability of PEESS v2.0 for telemedicine. Materials and methods: We sent a telesurvey using questionnaires via electronic telecommunication as the telemedicine method. Children with EoE and their parents were asked to complete PEESS v2.0 with the telesurvey method (unsynchronized with the physician) and attend in-person visits one week apart. Intraclass correlation (ICC), Wilcoxon, and Bland-Altman tests were used as reliability analyses. Reliability was defined as a strong agreement between the measurements in ICC ≥ 0.8 and a p-value of ≤0.05 and no statistically significant difference between the scores of the two methods in the Wilcoxon and Bland-Altman analyses, i.e. a p-value of >0.05. Results: The total scores of children and parents were higher in in-person visits than in the telesurvey (Wilcoxon tests, p ≤ 0.05). Bland-Altman analysis showed that the mean difference in total scores between the two methods was significant for both children and parents (p ≤ 0.05). ICC levels for the children and parent scores for the entire group ranged from 0.595 to 0.763 (moderate agreement). Conclusion: Unsynchronized telesurvey use of PEESS v2.0 is unreliable both for children and parents. We suggest testing the reliability of chosen telemedicine methods before using them in clinical and research practice. [ABSTRACT FROM AUTHOR]

Published
2023
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17. A novel pediatric Eosinophilic Esophagitis Symptoms and Adaptive Behavior Scale for different ages: GaziESAS v2.0.

Author

Yapar, Dilek, Karagol, Hacer Ilbilge Ertoy, Terece, Sinem Polat, Duztas, Demet Teker, Gurkan, Odul Egritas, Sari, Sinan, Dalgic, Buket, and Bakirtas, Arzu

Subjects
EOSINOPHILIC esophagitis, INTRACLASS correlation, SYMPTOMS, AGE groups, STATISTICAL reliability
Abstract

Background: High‐quality scales (HQS) suitable that measure symptoms and adaptive behaviors (AB) with proven validity and reliability are needed for different age groups of children with eosinophilic esophagitis (EoE). Objective: To develop a high‐quality pediatric EoE symptoms and AB scale for different age groups. Methods: Children (7–11 years), teens (12–18 years), and parents of 2–18‐year‐old children with EoE were included. A HQS should have encompassed: the identification of domain and item generation; content validity (CnV) and field test for construct validity (CsV) and reliability. Convergent validity (CgV) was examined for CsV. Correlations between the Pediatric Eosinophilic Esophagitis Symptom Score, version 2.0 (PEESS v2.0) and Gazi University Eosinophilic Esophagitis Symptoms and Adaptive Behavior Scale (GaziESAS) version 2.0 (v2.0) were examined for CgV. Reliability was determined through internal consistency (Cronbach‐α) and test–retest reliability (intraclass correlation coefficients: ICC). Results: Nineteen children, 42 teens, and 82 parents completed the study. GaziESAS v2.0 was composed of 20 items with two main domains: symptoms (subdomains: dysphagia and nondysphagia) and AB. CnV indexes were excellent for all items. The CgV varied from good to excellent correlation (r = 0.6 to r = 0.9). GaziESAS v2.0 showed good reliability (Cronbach‐α >0.7 and ICC >0.6). Conclusion: GaziESAS v2.0 is the first pediatric HQS that measures the frequency of symptoms and AB in EoE within the last month with separate forms for children, teens, and parents. [ABSTRACT FROM AUTHOR]

Published
2023
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25. Nutritional characteristic of children with inflammatory bowel disease in the nationwide inflammatory bowel disease registry from the Mediterranean region

Author

Doğan, Yaşar, Yücel, Aylin, Yaman, Aytaç, Üstündağ, Gonca Handan, Ünal, Fatih, Korkut Uğraş, Meltem, Tümgör, Gökhan, Tosun, Mahya Sultan, Bekem Soylu, Özlem, KULOĞLU, ZARİFE, Çetin, Funda, Urgancı, Nafiye, Sayar, Ersin, Öztürk, Yeşim, Özkan, Tanju, Özen, Hasan, Önal, Zerrin, SARI, SİNAN, Yüksekkaya, Hasan, Çaltepe, Gönül, Kutluk, Günsel, DUMLUPINAR, EBRU, AKÇAM, Mustafa, Arslan, Duran, Arslan, Nur, Artan, Reha, Uncuoğlu Aydoğan, Ayşen, Balamtekin, Necati, Kasırga, Erhun, Karabiber, Hamza, Kansu, Aydan, Kalaycı, Ayhan Gazi, Baran, Maşallah, Baysoy, Gökhan, Çakır, Murat, Çeltik, Coşkun, Işık, İshak, Özbay Hoşnut, Ferda, Hızlı, Şamil, Gürakan, Figen, Gulerman, Fulya, Gökçe, Selim, Erdemir, Gülin, Eren, Makbule, Ecevit, Çiğdem, Durmaz, Özlem, and Dalgıç, Buket

Subjects
Nutrition and Dietetics, Gender-Differences, Validation, Medicine (miscellaneous), Colitis Activity Index, Body-Mass Index, Growth, Ulcerative-Colitis, Patterns, Pediatric Crohns-Disease
Abstract

BACKGROUND/OBJECTIVES: We analyzed the nationwide pediatric inflammatory bowel disease (PIBD) registry (1998-2016), to evaluate the nutritional status at the time of diagnosis. SUBJECTS/METHODS: Nine types of nutritional status by the combination of weight-for-length (2 years) and length/height-for-age with three categories (2 SD) were described. Malnutrition was defined by WHO criteria. Univariate and multivariate regression analysis was used to identify risk factors for malnutrition. RESULTS: In total, 824 IBD patients (498 Ulcerative colitis (UC); 289 Crohn's Disease (CD); 37 Indeterminate Colitis (IC); 412 male; the median age 12.5 years) were eligible. The prevalence of eutrophy, wasting/thinness, stunting, overweight, tall stature, concurrent wasting/thinness and stunting, tall stature with overweight, tall stature with wasting/thinness, and short stature with overweight were 67.4%, 14.9%, 6.6%, 3.1%, 3.2%, 3.3%, 1.1%, 0.4%, and 0.1%, respectively. The prevalence of malnutrition was 32.7%, indicating a higher prevalence in CD (p < 0.001). Incidence of overweight was less common in the CD than UC and IC (p < 0.001). Multivariate analysis revealed that age of onset (>10 years), prepubertal stage, severe disease activity, perianal involvement, and high C reactive protein level were independently associated with malnutrition in pediatric IBD. CONCLUSION: We showed the frequency of nutritional impairment in PIBD. The percentage of overweight subjects was lower than the other studies. The age of onset, disease activity, CRP level, perianal involvement, and pubertal stage were associated with a higher risk for developing malnutrition. Our results also confirmed that CD patients are particularly vulnerable to nutritional impairment., Society of Turkish Pediatric Gastroenterology, Hepatology, and Nutrition, This research was funded by The Society of Turkish Pediatric Gastroenterology, Hepatology, and Nutrition.

Published
2022

29. GIMAP5 maintains liver endothelial cell homeostasis and

Author

Lifton, Richard P., ÖZEN, AHMET OĞUZHAN, BARIŞ, SAFA, Karakoc-Aydiner, Elif, Jain, Dhanpat, Kleiner, David, Schmalz, Michael, Radhakrishnan, Kadakkal, Zhang, Junhui, Hoebe, Kasper, Su, Helen C., Pereira, Joao P., Lenardo, Michael J., Drzewiecki, Kaela, Choi, Jungmin, Brancale, Joseph, Vilarinho, Silvia, Leney-Greene, Michael A., DALGIÇ, BUKET, Aksu, Aysel Unlusoy, Sahin, Gulseren Lvigen, and SARI, SİNAN

Abstract

Portal hypertension is a major contributor to decompensation and death from liver disease, a global health problem. Here, we demonstrate homozygous damaging mutations in GIMAP5, a small organellar GTPase, in four families with unexplained portal hypertension. We show that GIMAP5 is expressed in hepatic endothelial cells and that its loss in both humans and mice results in capillarization of liver sinusoidal endothelial cells (LSECs); this effect is also seen when GIMAP5 is selectively deleted in endothelial cells. Single-cell RNA-sequencing analysis in a GIMAP5-deficient mouse model reveals replacement of LSECs with capillarized endothelial cells, a reduction of macrovascular hepatic endothelial cells, and places GIMAP5 upstream of GATA4, a transcription factor required for LSEC specification. Thus, GIMAP5 is a critical regulator of liver endothelial cell homeostasis and, when absent, produces portal hypertension. These findings provide new insight into the pathogenesis of portal hypertension, a major contributor to morbidity and mortality from liver disease.

Published
2021

30. Deep mining of oxysterols and cholestenoic acids in human plasma and cerebrospinal fluid : Quantification using isotope dilution mass spectrometry

Author

Yutuc, Eylan, Dickson, Alison L., Pacciarini, Manuela, Griffiths, Lauren, Baker, Paul R.S., Connell, Lisa, Öhman, Anders, Forsgren, Lars, Trupp, Miles, Vilarinho, Sílvia, Khalil, Youssef, Clayton, Peter T., Sari, Sinan, Dalgic, Buket, Höflinger, Philip, Schöls, Ludger, Griffiths, William J., Wang, Yuqin, Yutuc, Eylan, Dickson, Alison L., Pacciarini, Manuela, Griffiths, Lauren, Baker, Paul R.S., Connell, Lisa, Öhman, Anders, Forsgren, Lars, Trupp, Miles, Vilarinho, Sílvia, Khalil, Youssef, Clayton, Peter T., Sari, Sinan, Dalgic, Buket, Höflinger, Philip, Schöls, Ludger, Griffiths, William J., and Wang, Yuqin

Abstract

Both plasma and cerebrospinal fluid (CSF) are rich in cholesterol and its metabolites. Here we describe in detail a methodology for the identification and quantification of multiple sterols including oxysterols and sterol-acids found in these fluids. The method is translatable to any laboratory with access to liquid chromatography – tandem mass spectrometry. The method exploits isotope-dilution mass spectrometry for absolute quantification of target metabolites. The method is applicable for semi-quantification of other sterols for which isotope labelled surrogates are not available and approximate quantification of partially identified sterols. Values are reported for non-esterified sterols in the absence of saponification and total sterols following saponification. In this way absolute quantification data is reported for 17 sterols in the NIST SRM 1950 plasma along with semi-quantitative data for 8 additional sterols and approximate quantification for one further sterol. In a pooled (CSF) sample used for internal quality control, absolute quantification was performed on 10 sterols, semi-quantification on 9 sterols and approximate quantification on a further three partially identified sterols. The value of the method is illustrated by confirming the sterol phenotype of a patient suffering from ACOX2 deficiency, a rare disorder of bile acid biosynthesis, and in a plasma sample from a patient suffering from cerebrotendinous xanthomatosis, where cholesterol 27-hydroxylase is deficient.

Published
2021
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31. Broadly effective metabolic and immune recovery with C5 inhibition in CHAPLE disease

Author

MDL onderzoek 3, Child Health, Ozen, Ahmet, Kasap, Nurhan, Vujkovic-Cvijin, Ivan, Apps, Richard, Cheung, Foo, Karakoc-Aydiner, Elif, Akkelle, Bilge, Sari, Sinan, Tutar, Engin, Ozcay, Figen, Uygun, Dilara Kocacik, Islek, Ali, Akgun, Gamze, Selcuk, Merve, Sezer, Oya Balci, Zhang, Yu, Kutluk, Gunsel, Topal, Erdem, Sayar, Ersin, Celikel, Cigdem, Houwen, Roderick H J, Bingol, Aysen, Ogulur, Ismail, Eltan, Sevgi Bilgic, Snow, Andrew L, Lake, Camille, Fantoni, Giovanna, Alba, Camille, Sellers, Brian, Chauvin, Samuel D, Dalgard, Clifton L, Harari, Olivier, Ni, Yan G, Wang, Ming-Dauh, Devalaraja-Narashimha, Kishor, Subramanian, Poorani, Ergelen, Rabia, Artan, Reha, Guner, Sukru Nail, Dalgic, Buket, Tsang, John, Belkaid, Yasmine, Ertem, Deniz, Baris, Safa, Lenardo, Michael J, MDL onderzoek 3, Child Health, Ozen, Ahmet, Kasap, Nurhan, Vujkovic-Cvijin, Ivan, Apps, Richard, Cheung, Foo, Karakoc-Aydiner, Elif, Akkelle, Bilge, Sari, Sinan, Tutar, Engin, Ozcay, Figen, Uygun, Dilara Kocacik, Islek, Ali, Akgun, Gamze, Selcuk, Merve, Sezer, Oya Balci, Zhang, Yu, Kutluk, Gunsel, Topal, Erdem, Sayar, Ersin, Celikel, Cigdem, Houwen, Roderick H J, Bingol, Aysen, Ogulur, Ismail, Eltan, Sevgi Bilgic, Snow, Andrew L, Lake, Camille, Fantoni, Giovanna, Alba, Camille, Sellers, Brian, Chauvin, Samuel D, Dalgard, Clifton L, Harari, Olivier, Ni, Yan G, Wang, Ming-Dauh, Devalaraja-Narashimha, Kishor, Subramanian, Poorani, Ergelen, Rabia, Artan, Reha, Guner, Sukru Nail, Dalgic, Buket, Tsang, John, Belkaid, Yasmine, Ertem, Deniz, Baris, Safa, and Lenardo, Michael J

Published
2021

34. GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension

Author

Drzewiecki, Kaela, primary, Choi, Jungmin, additional, Brancale, Joseph, additional, Leney-Greene, Michael A., additional, Sari, Sinan, additional, Dalgiç, Buket, additional, Ünlüsoy Aksu, Aysel, additional, Evirgen Şahin, Gülseren, additional, Ozen, Ahmet, additional, Baris, Safa, additional, Karakoc-Aydiner, Elif, additional, Jain, Dhanpat, additional, Kleiner, David, additional, Schmalz, Michael, additional, Radhakrishnan, Kadakkal, additional, Zhang, Junhui, additional, Hoebe, Kasper, additional, Su, Helen C., additional, Pereira, João P., additional, Lenardo, Michael J., additional, Lifton, Richard P., additional, and Vilarinho, Sílvia, additional

Published
2021
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36. Deep mining of oxysterols and cholestenoic acids in human plasma and cerebrospinal fluid: Quantification using isotope dilution mass spectrometry

Author

Yutuc, Eylan, primary, Dickson, Alison L., additional, Pacciarini, Manuela, additional, Griffiths, Lauren, additional, Baker, Paul R.S., additional, Connell, Lisa, additional, Öhman, Anders, additional, Forsgren, Lars, additional, Trupp, Miles, additional, Vilarinho, Sílvia, additional, Khalil, Youssef, additional, Clayton, Peter T., additional, Sari, Sinan, additional, Dalgic, Buket, additional, Höflinger, Philip, additional, Schöls, Ludger, additional, Griffiths, William J., additional, and Wang, Yuqin, additional

Published
2021
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39. Gazi Üniversitesi Tıp fakültesi öğrencileri arasında biliyer atrezi farkındalığının değerlendirilmesi

Author

SARI, SİNAN

Abstract

Biliyer atrezi (BA) yaşamın ilk 3 ayında tıkanma sarılığının en sık görülennedenidir. Kasai hepatoportoenterostomi (HPE) tekniği sayesinde çoğu hastada safradrenajı sağlanabilmektedir. Biliyer atrezinin erken tanısı HPE başarısını artıran enönemli faktörlerden biridir. Sadece öykü ve fizik muayene ile; BA’lı bebekleri annesütü sarılığına bağlı uzamış sarılığı olan bebeklerden ayırmak imkansızdır. Sarılığıolan bebeklerde bilirübin fraksiyonlarının bakılması ve gaita renginin sorgulanmasıBA’nın erken tansında kritik öneme sahiptir. Bu çalışmada Gazi Üniversitesi TıpFakültesi Dönem 6 öğrencileri arasında uzamış sarılığa yaklaşım, akolik gaitafarkındalığı ve bu konuda verilecek eğitimin başarısının değerlendirilmesiamaçlanmıştır.Dönem 6 öğrencilerinin uzamış sarılık, direkt hiperbilirübinemi, kolik –akolik gaita ayrımı ve BA konusundaki bilgileri anket ile değerlendirilmiştir.Öğrenciler anket sonrası eğitimle bu konuda bilgilendirilmiş, eğitimden hemen sonrave 1 ay sonra anketler tekrarlanmıştır.Eğitim öncesi ankette; çalışmaya katılan 312 öğrenciden (ortalama yaş: 23,6± 1,0; %48,4 erkek, %51,6’sı kadın) %61,9’u termlerde, %39,7’si pretermlerdeuzamış sarılığı, %33,9’u direkt hiperbilirübinemiyi doğru tanımlamış, %76,6’sısarılığı olan bebekte serum bilirübin fraksiyonlarının bakılması gerektiğinidüşünmüştür. Öğrencilerin %20,5’i biliyer atrezili bebek senaryosuna doğru yanıt51vermiştir. Öğrencilerin %86,8’i kolik gaita renklerinin tamamını ve %20,5’i akolikgaita renklerinin tamamını doğru tanımlamıştır. Eğitim sonrası yapılandeğerlendirmeler tüm sorulara verilen doğru yanıt oranlarının eğitim öncesine göreanlamlı ölçüde arttığını göstermiştir. Bir ay sonra yapılan anketteki doğru yanıtoranlarının eğitimden hemen sonra yapılan ankete göre daha düşük olduğugörülmüştür.Hekim adaylarının uzamış sarılık, direkt hiperbilirübinemi, kolik – akolikdışkı ayrımı ve BA konusundaki bilgi düzeylerinin yetersizliği BA tanı vetedavisinin gecikmesine neden olabilir. Mezuniyet sonrası eğitimlerin ve taramaprogramlarının BA’nın erken tanı ve tedavisinde yararlı olabileceği düşünülmüştür. Biliary atresia (BA) is the most frequent identifiable cause of obstructivejaundice in the first 3 months of life. With Kasai hepatoportoenterostomy (HPE),most of the patients achieve bile drainage. Timely diagnosis is important to optimizethe response to a HPE aimed at reestablishing bile flow. With only history andphysical examination, it is impossible to distinguish an infant with breast milkjaundice from a cholestatic infant. It is critical to check the color of the stool andhave a fractionated bilirubin for timely diagnosis of BA. In this study; we aimed toassess the approach of the students in Gazi University Medical Faculty to prolongedjaundice, acholic stool awareness and assess the success of education about thesesubjects.Knowledge of the students about prolonged jaundice, directhyperbilirubinemia, acholic stool and BA have been evaluated via questionnaires.After the first questionnaire, all students have been informed about these subjects.Then the questionnaire was repeated after the training and after one month.312 students (mean age: 23.6 ± 1.0 years; 48.4% male, 51.6% female) haveparticipated in this study. The data of the 1st questionnaire indicate that 61.9% ofthem defined prolonged jaundice at term infants, 39.7% of them defined prolongedjaundice at preterm infants correctly. 76.6% of them planned to have fractionatedbilirubin for an infant with prolonged jaundice. 20.5% of them chose correct clinical53presentation for BA. 86.8% of them chose all the stool color that was not acholiccorrectly. 20.5% of them chose all the stool color that was acholic correctly. We sawthat the correct answer rate of participants for all questions have increasedsignificantly after the training. However, the correct answer rate was decreased afterone month.We concluded that lack of knowledge of the candidate physicians aboutprolonged jaundice, direct hyperbilirubinemia, acholic stool and BA may cause delayin diagnosis and treatment. Screen programs and some postgraduate education maycontribute to early diagnosis and surgery of BA.

Published
2020

40. Human immunodeficiency reveals GIMAP5 as lymphocyte-specific regulator of senescence

Author

Park, Ann Y., primary, Leney-Greene, Michael, additional, Lynberg, Matthew, additional, Xu, Xijin, additional, Zheng, Lixin, additional, Zhang, Yu, additional, Matthews, Helen, additional, Chao, Brittany, additional, Morawski, Aaron, additional, Jiang, Ping, additional, Aluri, Jahnavi, additional, Aydiner, Elif Karakoc, additional, Kiykim, Ayca, additional, Pascall, John, additional, Barlan, Isil, additional, Sari, Sinan, additional, Butcher, Geoff, additional, Rao, V. Koneti, additional, Lifton, Richard, additional, Baris, Safa, additional, Ozen, Ahmet, additional, Vilarinho, Silvia, additional, Su, Helen, additional, and Lenardo, Michael J., additional

Published
2021
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