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View article: Condition-Specific Growth Charts for Children With Alagille Syndrome
Condition-Specific Growth Charts for Children With Alagille Syndrome Open
Importance Different degrees of growth delay have been reported in children with Alagille syndrome (ALGS), yet these patients are routinely evaluated using standard growth charts. Objective To develop condition-specific growth charts for A…
View article: Elevated Serum Bile Acids Predict Poor Liver Outcomes in Children With Alagille Syndrome: Results From the <scp>GALA</scp> Study Group
Elevated Serum Bile Acids Predict Poor Liver Outcomes in Children With Alagille Syndrome: Results From the <span>GALA</span> Study Group Open
Background and Aim Alagille syndrome (ALGS) is a rare disorder characterised by cholestasis and extrahepatic manifestations. Given the current era of ileal bile acid transporter (IBAT) inhibitor therapies that reduce serum bile acid (SBA) …
View article: Diagnostic Value of Leukocyte Count, C-Reactive Protein, and Procalcitonin in Pediatric Liver Transplant Patients During the First Week Postoperative: A Longitudinal Study from a Tertiary Center and a New Diagnostic Method for Predicting Systemic Infection
Diagnostic Value of Leukocyte Count, C-Reactive Protein, and Procalcitonin in Pediatric Liver Transplant Patients During the First Week Postoperative: A Longitudinal Study from a Tertiary Center and a New Diagnostic Method for Predicting Systemic Infection Open
Background/Objectives: Infection is a major complication during the early postoperative period following pediatric liver transplantation (LT). Prompt diagnosis and treatment are essential to prevent death. We aimed to assess the diagnostic…
View article: Phenotypic Divergence of <i>JAG1</i> ‐ and <i>NOTCH2</i> ‐Associated Alagille Syndrome & Disease‐Specific <i>NOTCH2</i> Variant Classification Guidelines
Phenotypic Divergence of <i>JAG1</i> ‐ and <i>NOTCH2</i> ‐Associated Alagille Syndrome & Disease‐Specific <i>NOTCH2</i> Variant Classification Guidelines Open
Background & Aims Alagille syndrome (ALGS) is a rare, autosomal dominant disorder with high phenotypic heterogeneity. Disease‐causing variants are primarily identified in Jagged1 ( JAG1 ), with fewer reported in NOTCH2 . JAG1 variants caus…
View article: The Consequences of <scp>HLA</scp> Screening in the Prevention of Graft‐Versus‐Host Disease in Living Donor Liver Transplantation
The Consequences of <span>HLA</span> Screening in the Prevention of Graft‐Versus‐Host Disease in Living Donor Liver Transplantation Open
Aims To study the effects of routine HLA screening and the policy of avoiding donor‐dominant one‐way HLA match to prevent graft‐versus‐host disease (GVHD) after living donor liver transplantation (LDLT). Patients and Methods The records of…
View article: OP-050 Assessing growth and nutritional status of children with inflammatory bowel disease: a single center experience
OP-050 Assessing growth and nutritional status of children with inflammatory bowel disease: a single center experience Open
Aim To assess growth and nutritional status of children with inflammatory bowel disease (IBD) at diagnosis & during follow-up and to investigate possible risk factors associated with malnutrition Material and Method This is a retrospective…
View article: Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA
Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA Open
Background and Aims: Alagille syndrome (ALGS) is characterized by chronic cholestasis with associated pruritus and extrahepatic anomalies. Maralixibat, an ileal bile acid transporter inhibitor, is an approved pharmacologic therapy for chol…
View article: JAG1 MUTATION SPECTRUM IN CASES WITH ALAGILLE SYNDROME FROM TURKIYE
JAG1 MUTATION SPECTRUM IN CASES WITH ALAGILLE SYNDROME FROM TURKIYE Open
Amaç: Arteriyohepatik displazi olarak da bilinen Alagille sendromu (ALGS), çoğunlukla JAG1 genindeki mutasyonların neden olduğu otozomal dominant kalıtılan bir multisistem hastalığıdır. Karaciğer, kalp, göz, vertebra ve yüz morfolojisinde …
View article: A Rare Cause of Hypergonadotropic Hypogonadism: Transaldolase Deficiency in Two Siblings
A Rare Cause of Hypergonadotropic Hypogonadism: Transaldolase Deficiency in Two Siblings Open
Transaldolase deficiency is a rare inborn autosomal recessive disorder caused by biallelic mutations in the TALDO1 gene. It is characterized by intrauterine growth restriction, dysmorphism, cytopenia, hepatosplenomegaly, liver cirrhosis, e…
View article: Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study Open
Background and Aims: Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real‐world data are lacking. This study aimed to elucidate the natu…
View article: Evolution and long‐term outcomes of combined immunodeficiency due to CARMIL2 deficiency
Evolution and long‐term outcomes of combined immunodeficiency due to CARMIL2 deficiency Open
Background Biallelic loss‐of‐function mutations in CARMIL2 cause combined immunodeficiency associated with dermatitis, inflammatory bowel disease (IBD), and EBV‐related smooth muscle tumors. Clinical and immunological characterizations of …
View article: Familial Mediterranean Fever Mutation Analysis in Pediatric Patients With İnflammatory Bowel Disease: A Multicenter Study
Familial Mediterranean Fever Mutation Analysis in Pediatric Patients With İnflammatory Bowel Disease: A Multicenter Study Open
Although FMF mutations are unrelated to CD patients, but observed in UC patients with low PUCAI scores, it was established that mutations do not have a high impact on inflammatory response and clinical outcome of the disease.
View article: The Investigation of Gastroesophageal Reflux in Children with Portal Hypertention
The Investigation of Gastroesophageal Reflux in Children with Portal Hypertention Open
Objective: To investigate the effect of the portal hypertension on gastroesophageal reflux disease in childhood. Methods: A total of 30 patients with portal hypertension were included in the study. The patients were divided into 3 main gro…
View article: Retrospective Evaluation of the Clinical Findings and Bone Mineral Densitometry Results of Children with Celiac Disease
Retrospective Evaluation of the Clinical Findings and Bone Mineral Densitometry Results of Children with Celiac Disease Open
Objective:Children diagnosed with Celiac disease should be closely followed-up for osteoporosis that may develop. We aimed to evaluate the osteoporosis conditions through bone densitometry in patients with the diagnosis of celiac disease, …
View article: Two years experience of a multidisciplinary approach for pediatric thrombosis in a tertiary referral center
Two years experience of a multidisciplinary approach for pediatric thrombosis in a tertiary referral center Open
Pediatric thrombosis has unique characteristics due to its epidemiology, pathophysiology and treatment considerations. Children diagnosed with thrombosis should be evaluated by a multidisciplinary team at the level of diagnosis, treatment,…
View article: The Frequency of Lysosomal Acid Lipase Deficiency in Children With Unexplained Liver Disease
The Frequency of Lysosomal Acid Lipase Deficiency in Children With Unexplained Liver Disease Open
Objectives: Evidence suggests that lysosomal acid lipase deficiency (LAL‐D) is often underdiagnosed because symptoms may be nonspecific. We aimed to investigate the prevalence of LAL‐D in children with unexplained liver disease and to iden…
View article: Autoimmunity and intestinal colonization by Candida albicans in patients with type 1 diabetes at the time of the diagnosis
Autoimmunity and intestinal colonization by Candida albicans in patients with type 1 diabetes at the time of the diagnosis Open
Through this study, we suggest that the presence of intestinal C. albicans colonization at the time of the diagnosis of T1DM may indicate impairment of normal intestinal microbiota. We also suggest that there may be a tendency of T1DM in p…
View article: Evaluation of Cases with Neonatal Cholestasis
Evaluation of Cases with Neonatal Cholestasis Open
Amaç: Çalışmanın amacı, neonatal kolestaz nedeniyle takip edilen çocuk hastaların etiyoloji, tanı yöntemleri, laboratuvar bulguları, tedavi şekilleri ve uzun dönem prognozları açısından geriye dönük olarak incelenmesi amaçlandı.Gereç ve Yö…
View article: Evaluation of malnutrition development risk in hospitalized children
Evaluation of malnutrition development risk in hospitalized children Open
Use of anthropometric measurements in addition to screening tools to identify hospital malnutrition (such as PYMS, STRONGkids) will prevent some nutritional risk patients from being overlooked.