Article
Rheumatology
Yonatan Butbul Aviel, Silman Rawan, Shafe Fahoum, Isaiah Wexler, Yackov Berkun
Summary: This study described a group of pediatric patients with FMF who discontinued colchicine therapy following a relatively long attack-free period, with a longer attack-free period prior to discontinuation predicting success; patients with arthritis or myalgia prior to cessation were more likely to have an attack after stopping colchicine therapy.
JOURNAL OF RHEUMATOLOGY
(2021)
Article
Immunology
Yoshitaka Honda, Yukako Maeda, Kazushi Izawa, Takeshi Shiba, Takayuki Tanaka, Haruna Nakaseko, Keisuke Nishimura, Hiroki Mukoyama, Masahiko Isa-Nishitani, Takayuki Miyamoto, Hiroshi Nihira, Hirofumi Shibata, Eitaro Hiejima, Osamu Ohara, Junko Takita, Takahiro Yasumi, Ryuta Nishikomori
Summary: This study established and validated a new functional assay to evaluate the pathogenicity of MEFV variants. Disease-associated MEFV variants induced abnormal pyrin inflammasome activation and pyroptotic cell deaths, leading to pyrin-associated autoinflammatory diseases (PAADs). The pathogenicity analysis of MEFVP257L variants showed consistent results between different assay methods.
JOURNAL OF CLINICAL IMMUNOLOGY
(2021)
Article
Medicine, General & Internal
Mehmet Agin, Atil Bisgin, Mustafa Yilmaz, Aylin Kont Ozhan, Ferid Mammadov, Gokhan Tumgor
Summary: The study aimed to determine the cumulative effects of Mediterranean fever gene polymorphisms and mutations in patients with inflammatory bowel diseases. The results showed that the Mediterranean fever gene variant was more frequently found in cases with ulcerative colitis compared to the controls.
JOURNAL OF THE PAKISTAN MEDICAL ASSOCIATION
(2021)
Article
Rheumatology
Limor Marko, Asaf Shemer, Merav Lidar, Chagai Grossman, Amit Druyan, Avi Livneh, Shaye Kivity
Summary: Treatment with anakinra is beneficial for the majority of colchicine-resistant FMF patients and is relatively safe, as evidenced by a significant improvement in the Global Assessment Score. However, some patients experienced adverse effects such as hospitalizations and injection site reactions.
Review
Physiology
Bo-Zong Shao, Yi Yao, Jun-Shan Zhai, Jian-Hua Zhu, Jin-Ping Li, Kai Wu
Summary: IBD, including UC and CD, is an idiopathic intestinal inflammatory disease, where autophagy plays a vital role. Understanding the regulation of autophagy in IBD is crucial for developing novel therapeutic strategies.
FRONTIERS IN PHYSIOLOGY
(2021)
Article
Pediatrics
Ahmed Omran, Ahmed Abdelrahman, Yasmine Gabr Mohamed, Mohamed Osama Abdalla, Eman R. Abdel-Hamid, Samar Elfiky
Summary: This study describes the genetic and clinical features of familial Mediterranean fever (FMF) in a group of Egyptian children. The study found that recurrent fever with oral lesions could be an important atypical presentation of FMF in these children.
Review
Immunology
Jianli Zhou, Qiao Zhang, Yuzhen Zhao, Yuchen Song, Yanan Leng, Moxian Chen, Shaoming Zhou, Zhaoxia Wang
Summary: Inflammatory bowel disease (IBD) is a group of chronic diseases including Crohn's disease and ulcerative colitis, which have a global impact on both children and adults. The burden of IBD is increasing worldwide, and the costs associated with it are high. The pathogenesis of IBD is still unclear, but is believed to be related to environmental factors, gut microbiota, immune imbalance, and genetic susceptibility. This article reviews the research progress on alternative splicing events, splicing factors, and splicing mutations associated with IBD.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Rheumatology
Merve Ozkilinc Onen, Umut Onat, Serdal Ugurlu, Ahmet C. Timucin, Devrim Oz Arslan, Elif Everest, Huri Ozdogan, Eda Tahir Turanli
Summary: This study identified a rare PSTPIP1 mutation in a family with an FMF and MKD overlapping phenotype but no MEFV and MVK pathogenic variants, suggesting that this variant may cause inflammation response through enhanced PSTPIP1-pyrin interaction and pyrin inflammasome activation.
Review
Pediatrics
Asha Jois, George Alex
Summary: Inflammatory bowel disease is a common cause of chronic diarrhea in children and has been increasing worldwide. It includes different subtypes, such as Crohn's disease and ulcerative colitis. Diagnosis requires various investigations including imaging and endoscopy. Treatment depends on the severity and subtype, involving immunosuppressive therapies. Poorly controlled disease can lead to psychosocial impacts, growth impairment, and long-term risks. A multidisciplinary team is recommended for managing the disease. This review focuses on the latest clinical practices for diagnosis and management of inflammatory bowel disease in children.
INDIAN JOURNAL OF PEDIATRICS
(2023)
Review
Immunology
Susanna Esposito, Giulia Antoniol, Marialuisa Labate, Lucrezia Passadore, Patrizia Alvisi, Valeria Dacco, Chiara Ghizzi, Carla Colombo, Nicola Principi
Summary: The incidence of inflammatory bowel diseases (IBDs) is rising globally, leading to a higher risk of infections in children with dysfunctional immune systems. Vaccines are essential for preventing these infections, and should be administered according to specific immunization guidelines for IBD patients. Compliance with vaccination recommendations is generally low, highlighting the need for multidisciplinary educational programs to improve vaccination coverage and protect children with IBD from vaccine-preventable diseases.
Review
Nutrition & Dietetics
Lewis Steell, Stuart R. Gray, Richard K. Russell, Jonathan MacDonald, John Paul Seenan, Sze Choong Wong, Daniel R. Gaya
Summary: Musculoskeletal deficits are commonly reported in patients with inflammatory bowel disease (IBD), particularly Crohn's disease. The adverse effects on bone and muscle are multifactorial, including inflammation, nutritional deficits, and therapies, leading to increased risk of osteoporosis and sarcopenia. Ib children with IBD, these factors may impact optimal bone and muscle accrual.
Article
Rheumatology
Murat Bektas, Nevzat Koca, Emin Oguz, Selma Sari, Gizem Dagci, Burak Ince, Pelin Karaca Ozer, Besim Fazil Agargun, Yasemin Yalcinkaya, Bahar Artim-Esen, Lale Ocal, Murat Inanc, Ahmet Gul
Summary: This study evaluated the clinical, laboratory, and genetic characteristics of patients with AA amyloidosis in Turkey. It found that FMF is the most common cause of AA amyloidosis and patients with homozygous or compound heterozygous MEFV exon 10 variants tend to develop the disease earlier. Patients with a low estimated glomerular filtration rate at admission had a higher risk of progressing to end-stage renal disease. The study also found that the mortality rate increased with the amyloid burden.
Article
Gastroenterology & Hepatology
Nafiye Urganci, Funda Ozgenc, Zarife Kuloglu, Hasan Yuksekkaya, Sinan Sari, Tulay Erkan, Zerrin Onal, Gonul Caltepe, Mustafa Akcam, Duran Arslan, Nur Arslan, Reha Artan, Aysen Aydogan, Necati Balamtekin, Masallah Baran, Gokhan Baysoy, Murat Cakir, Buket Dalgic, Yasar Dogan, Ozlem Durmaz, Cigdem Ecevit, Makbule Eren, Selim Gokce, Fulya Gulerman, Figen Gurakan, Samil Hizli, Ishak Isik, Ayhan Gazi Kalayci, Aydan Kansu, Tufan Kutlu, Hamza Karabiber, Erhun Kasirga, Gunsel Kutluk, Ferdag Ozbay Hosnut, Hasan Ozen, Tanju Ozkan, Yesim Ozturk, Ozlem Bekem Soylu, Engin Tutar, Gokhan Tumgor, Fatih Unal, Meltem Ugras, Gonca Ustundag, Aytac Yaman
Summary: This study evaluated FMF mutation analysis in pediatric patients with IBD. The most common mutation was E148Q in UC and CD, and M694V in IC. Mutations did not have a high impact on inflammatory response and clinical outcome of the disease in UC patients with low PUCAI scores.
TURKISH JOURNAL OF GASTROENTEROLOGY
(2021)
Article
Nutrition & Dietetics
Julie Rempel, Kanika Grover, Wael El-Matary
Summary: Children and adolescents with inflammatory bowel disease (IBD) are at risk of developing anemia and various micronutrient deficiencies at diagnosis and one year follow-up. Factors such as age and albumin levels may play a role in predicting anemia in these patients.
Article
Biochemistry & Molecular Biology
Paulina Krawiec, Elzbieta Pac-Kozuchowska
Summary: This study aimed to evaluate the level of serum elafin in children with inflammatory bowel disease (IBD) and its relationship with disease activity. The results showed that serum elafin levels were significantly elevated in children with IBD, especially during active phases. ROC analysis suggested that serum elafin could be a potential biomarker for ulcerative colitis.
Article
Pediatrics
Asuman Nur Karhan, Saliha Esenboga, Ersin Gumus, Betul Karaatmaca, Deniz Cagdas, Hulya Demir, Inci Nur Saltik Temizel, Hasan Ozen, Aysel Yuce, Ilhan Tezcan
Summary: The nutritional status of patients with primary immunodeficiencies (PID) was evaluated in this study. Malnutrition was found to be common among PID patients, with chronic, acute, and mixed-type malnutrition detected in a significant portion of the patients. Hospitalization history was inversely related to body mass index and weight for age Z-scores, and patients with malnutrition had daily caloric intake below requirements.
PEDIATRICS INTERNATIONAL
(2022)
Article
Gastroenterology & Hepatology
Asuman Nur Karhan, Yusuf Aydemir, Numan Demir, Selen Serel Arslan, Ersin Gumus, Hulya Demir, Hasan Ozen, Aysel Yuce, Aynur Ayse Karaduman, Inci Nur Saltik-Temizel, Asuman Nur Karhana
Summary: The study aimed to evaluate swallowing function in pediatric patients with Wilson's disease, and found that some patients exhibited swallowing dysfunction. The results suggest that subclinical swallowing dysfunction may be observed in patients with either neurological or hepatic Wilson's disease.
ARAB JOURNAL OF GASTROENTEROLOGY
(2021)
Article
Dentistry, Oral Surgery & Medicine
Buket Acar, Ersin Gumus, Selcen Ozcan-Bulut, Cansu Ozsin-Ozler, Meryem Seda Boyraz, Cagman Tan, Ismail Yaz, Begum Ozbek, Deniz Cagdas, Inci Nur Saltik-Temizel, Hulya Demir, Hasan Ozen, Erdem Karabulut, Ilhan Tezcan, Aysel Yuce, Ezel Berker
Summary: The cytokine profile in gingival crevicular fluid and serum of pediatric inflammatory bowel disease (IBD) patients was evaluated, with 50 IBD patients and 21 healthy children enrolled in the study. Patients with IBD were categorized into subgroups based on disease activity and response to treatment, and the levels of pro- and anti-inflammatory cytokines were measured. Results showed that disease activity might impact gingival inflammation in pediatric patients with IBD due to increased cytokine interactions and severity of inflammation.
JOURNAL OF PERIODONTOLOGY
(2022)
Article
Pediatrics
Pinar Simsek Onat, Duygu Demirtas, Hayriye Hizarcioglu Gulsen, Ersin Gumus, Inci Nur Saltik Temizel, Hasan Ozen, Hulya Demir, Erkan Parlak
Summary: A retrospective analysis of 46 pediatric patients who underwent ERCP at Hacettepe University revealed a strong correlation between levels of neurotensin and obesity-related markers. Chronic pancreatitis and acute pancreatitis were the most common indications for ERCP in these patients, with endoscopic sphincterotomy being the most common treatment method.
GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS
(2021)
Article
Gastroenterology & Hepatology
Pinar Simsek-Onat, Hayriye Hizarcioglu-Gulsen, Yasin Maruf Ergen, Ersin Gumus, Hasan Ozen, Hulya Demir, Seza Ozen, Inci Nur Saltik-Temizel
Summary: This study found that neutrophil-to-lymphocyte ratio (NLR) values in pediatric inflammatory bowel disease (IBD) were significantly higher during diagnosis and active disease compared to the remission period. NLR can be used as a non-invasive inflammatory biomarker for initial evaluation and follow-up of disease activity in children with IBD.
DIGESTIVE DISEASES AND SCIENCES
(2023)
Article
Transplantation
Hayriye Hizarcioglu-Gulsen, Ersin Gumus, Hulya Demir, Inci N. Saltik-Temizel, Ali Varan, Hilmi Anil Dincer, Ahmet Bulent Dogrul, Hasan Ozen
Summary: Immunosuppressive therapy carries risks for complications, including opportunistic infections and posttransplant lymphoproliferative disease. This case report highlights the development of posttransplant lymphoproliferative disease in a 3.5-year-old boy who was seropositive for Epstein-Barr virus after liver transplant.
EXPERIMENTAL AND CLINICAL TRANSPLANTATION
(2022)
Article
Pediatrics
Ersin Gumus, Asuman Nur Karhan, Numan Demir, Tutku Soyer, Hasan Ozen, Feridun Cahit Tanyel
Summary: This study assessed the role of intraluminal impedance (MII-pH) in evaluating GERD in children with repaired esophageal atresia (EA). The results showed that the majority of reflux episodes in these patients were non-acidic and could not be detected with standard pH monitoring. Therefore, MII-pH monitoring should be preferred over conventional pH monitoring in the surveillance of EA patients.
GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS
(2022)
Article
Medicine, General & Internal
Zeynelabidin Ozturk, Hulya Demir, Asuman Nur Karhan, Inci Nur Saltik Temizel, Hasan Ozen
Summary: This study analyzed 158 children who received 179 episodes of individualized parenteral nutrition. The most common indications were hematological malignancies, gastrointestinal surgery, and hematopoietic stem cell transplantation. The most common metabolic complications included electrolyte imbalances and elevated liver enzymes. Central venous catheters were more efficient for providing targeted energy. Maintaining blood glucose, lipids, and electrolyte levels within the normal range is crucial for individualized parenteral nutrition.
IRISH JOURNAL OF MEDICAL SCIENCE
(2023)
Editorial Material
Pediatrics
Demet Baltu, Eda Didem Kurt Sukur, Ersin Gumus, Tugba Tastemel Ozturk, Yasin Maruf Ergen, Duygu Demirtas, Bora Gulhan, Fatih Ozaltin, Diclehan Orhan, Hasan Ozen, Ali Duzova
PEDIATRIC NEPHROLOGY
(2023)
Editorial Material
Pediatrics
Demet Baltu, Eda Didem Kurt Sukur, Ersin Gumus, Tugba Tastemel Ozturk, Yasin Maruf Ergen, Duygu Demirtas, Bora Gulhan, Fatih Ozaltin, Diclehan Orhan, Hasan Ozen, Ali Duzova
PEDIATRIC NEPHROLOGY
(2023)
Review
Pediatrics
Merve Guvenoglu, Pelin Ozlem Simsek-Kiper, Can Kosukcu, Ekim Z. Taskiran, Inci Nur Saltik-Temizel, Safak Gucer, Eda Utine, Koray Boduroglu
Summary: Congenital diarrheal disorders are rare intestinal diseases that occur in infants and have a genetic basis. This study reports a case of a 17-month-old male infant with congenital diarrhea, and molecular autopsy and histopathological examination revealed that the patient had intestinal epithelial tufting enteropathy.
PEDIATRIC GASTROENTEROLOGY HEPATOLOGY & NUTRITION
(2022)
Article
Pediatrics
Gulnar Agakisiyeva, Damla Yildirim, Hayriye Hizarcioglu-Gulsen, Ersin Gumus, Asuman N. Karhan, Erdem Karabulut, Hasan Ozen, Hulya Demir, Inci N. Saltik-Temizel
Summary: Dietary habits may be a risk factor for functional constipation, especially during rapid growth period. Higher carbohydrate and lower fat intake may be associated with an increased risk of functional constipation. Longer duration of breastfeeding and more frequent use of squatting toilet may be related to a lower risk of functional constipation.
MINERVA PEDIATRICS
(2022)
Article
Pediatrics
Asuman Nur Karhan, Hayriye Hizarcioglu-Gulsen, Ersin Gumus, Zuhal Akcoren, Hulya Demir, Inci Nur Saltik-Temizel, Diclehan Orhan, Hasan Ozen
Summary: This study identified the etiologies of hepatic steatosis in children through a retrospective review of liver biopsies. The most common diagnoses were inborn errors of metabolism and nonalcoholic fatty liver disease/steatohepatitis. Patients with inborn errors of metabolism had higher rates of consanguineous marriage and positive family history compared to those with NAFLD/NASH, along with common clinical and biochemical findings.
PEDIATRIC GASTROENTEROLOGY HEPATOLOGY & NUTRITION
(2021)