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

Autor: Aydan Kansu, Zarife Kuloglu, Gökhan Tümgör, Didem Gülcü Taşkın, Buket Dalgıç, Gönül Çaltepe, Kaan Demirören, Güzide Doğan, Ceyda Tuna Kırsaçlıoğlu, Duran Arslan, İshak Abdurrahman Işık, Hülya Demir, Özlem Bekem, Yasin Şahin, Nevzat Aykut Bayrak, Mukadder Ayşe Selimoğlu, Sibel Yavuz, İbrahim Ethem Taşkaya, Derya Altay, the VICTORIA Study Group, Ayşegül Bükülmez, Arzu Meltem Demir, Yavuz Tokgöz, Zarife Kuloğlu, Hasret Ayyıldız, Günsel Kutluk, Meryem Keçeli Başaran, Oya Balcı Sezer, Tanju Başarır Özkan, Taner Özgür, Gonca Handan Üstündağ, Eda Somuncu, Ali İşlek, Ferda Özbay Hoşnut, Gülseren Evirgen Şahin, Yaşar Doğan, Uğur Deveci, Kamercan Ceylan, Ahmet Baştürk, Necati Balamtekin, Melike Arslan, Hayriye Hızarcıoğlu Gülşen, Atakan Comba, İlknur Varol, Sebahat Çam, Eylem Sevinç, Erkan Doğan, Murat Çakır, Burcu Güven, Suna Selbuz, Hacer Fulya Gülerman, Zeynep Arslan, Ayşen Uncuoğlu, Neslihan Gürcan Kaya, Deniz Ertem, Engin Tutar, Burcu Volkan, Yusuf Usta, Asuman Nur Karhan, Halil Kocamaz, Tuğba Gürsoy Koca, Fatih Ünal, Birol Öztürk, Cansu Altuntaş, Halil Haldun Emiroğlu, Meltem Gümüş, Mustafa Akçam, Yeliz Çağan Appak, Betül Aksoy, Elif Sağ, Ulaş Emre Akbulut, Cahit Barış Erdur, Nafiye Urgancı, Ayşe Merve Usta, Coşkun Çeltik, Nelgin Gerenli

Publikováno v: Frontiers in Pediatrics, Vol 11 (2023)

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 Pom

Externí odkaz: https://doaj.org/article/017a5b24b62a45e585ae24595455e694

Phenotypic Pattern of Early Versus Later-Onset Pediatric Inflammatory Bowel Disease in a Eurasian Country

Autor: Bilge S. Akkelle, Deniz Ertem, Burcu Volkan, Engin Tutar

Publikováno v: Journal of Pediatric Gastroenterology & Nutrition. 75:e61-e66

It is not clear whether the characteristics of pediatric inflammatory bowel disease (IBD) differ between Eastern and Western countries. The aim of this study was to analyze the characteristics of PIBD in Turkey, according to the age at diagnosis.The

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::285e39023fcd7983b58e06f9c265a464
https://doi.org/10.1097/mpg.0000000000003557

A common IL‐4 receptor variant promotes asthma severity via a T reg cell GRB2‐IL‐6‐Notch4 circuit

Autor: Mehdi Benamar, Hani Harb, Qian Chen, Muyun Wang, Tsz Man Fion Chan, Jason Fong, Wanda Phipatanakul, Amparito Cunningham, Deniz Ertem, Carter R. Petty, Amirhosein J. Mousavi, Constantinos Sioutas, Elena Crestani, Talal A. Chatila

Publikováno v: Allergy. 77:3377-3387

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ed22e2c06adaa0e0065a4679356dc2bf
https://doi.org/10.1111/all.15444

The PURPLE N study: objective and perceived nutritional status in children and adolescents with cerebral palsy

Autor: Andras, Fogarasi, Elisa, Fazzi, Ana R P, Smorenburg, Maria, Mazurkiewicz-Beldzinska, Argirios, Dinopoulos, Alena, Pobiecka, Dea, Schröder-van den Nieuwendijk, Josef, Kraus, Hasan, Tekgül, Maria, Koutsaki, Giovanni, Baranello, Simona, Bertoli, Elisa, Caramaschi, Duccio Maria, Cordelli, Ramona, De Amicis, Maria Luisa, Forchielli, Azzurra, Guerra, Althea, Lividini, Maddalena, Marchiò, Andrea, Rossi, Dea Schröder-van den, Nieuwendijk, Jędrzej, Fliciński, Barbara, Gurda, Anna, Lemska, Agnieszka, Matheisel, Zuzanna, Niwinska, Małgorzata, Pawłowicz, Agnieszka, Sawicka, Barbara, Steinborn, Marta, Szmuda, Anna, Winczewska-Wiktor, Marta, Zawadzka, Ebru, Arhan, Kursad, Aydin, Erhan, Bayram, Kursat Bora, Carman, Pinar, Edem, Deniz, Ertem, Özben Akıncı, Goktas, Serdal, Gungor, Goknur, Haliloglu, Aydan, Kansu, Mustafa, Kömür, Akmer, Mutlu, Ceyda Tuna, Kırsaçlıoğlu, Çetin, Okuyaz, Bilge, Özgör, Yesim, Ozturk, Safiye Gunes, Sager, Esra, Sarıgeçili, Mukadder Ayse, Selimoglu, Hepsen Mine Öztürk, Serin, Serap Tıraş, Teber, Gülten, Thomas, Dilsad, Turkdogan, Burcu, Volkan, Coşkun, Yarar, Sanem Keskin, Yilmaz

Purpose: To obtain information on characteristics, management, current objective nutritional status and perception of nutritional status of children with cerebral palsy (CP) from healthcare professionals (HCPs) and caregivers. Materials and methods:

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9727200483ce29407dbc20f7e3e3d6a8
https://avesis.deu.edu.tr/publication/details/824a25c6-3f2f-4d7f-94fc-9d7cf13de9ea/oai

Characteristics of Siblings With Celiac Disease Diagnosed by Family Screening

Autor: Bilge S. Akkelle, Burcu Volkan, Engin Tutar, Deniz Ertem

Publikováno v: Indian pediatrics. 59(11)

The aim of this study was to evaluate the features of asymptomatic siblings of index celiac patients who were diagnosed with celiac disease (CD) at the initial screening.We reviewed hospital records of 210 children with CD. The characteristics of sib

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76827049626f1f734affa3146d4c218f
https://pubmed.ncbi.nlm.nih.gov/36148747