Particular fibrinogen g chain mutations occurring in the g-module induce changes that hamper g-g dimerization and provoke intracellular aggregation of the mutant fibrinogen, defective export and plasma deficiency. The hepatic storage predisposes to the development of liver disease. This condition has been termed hereditary hypofibrinogenemia with hepatic storage (HHHS). So far, seven of such mutations in the fibrinogen g chain have been detected. We are reporting on an additional mutation occurring in a 3.5-year-old Turkish child undergoing a needle liver biopsy because of the concomitance of transaminase elevation of unknown origin and low plasma fibrinogen level. The liver biopsy showed an intra-hepatocytic storage of fibrinogen. The molecular analysis of the three fibrinogen genes revealed a mutation (Fibrinogen Trabzon Thr371Ile) at exon 9 of the g chain in the child and his father, while the mother and the brother were normal. Fibrinogen Trabzon represents a new fibrinogen g chain mutation fulfilling the criteria for HHHS. Its occurrence in a Turkish child confirms that HHHS can present in early childhood and provides relevant epidemiological information on the worldwide distribution of the fibrinogen g chain mutations causing this disease. By analyzing fibrinogen crystal structures and calculating the folding free energy change (DDG) to infer how the variants can affect the conformation and function, we propose a mechanism for the intracellular aggregation of Fibrinogen Trabzon and other g-module mutations causing HHHS.

Background Helicobacter pylori antimicrobial resistance is gradually increasing around the world. However, there are a limited number of studies reporting on this issue in the pediatric population. In this study, we aimed to determine H pylori resistance to clarithromycin and fluoroquinolones in the pediatric patients living in Kırıkkale province that were detected with H pylori in gastric biopsies. Moreover, we also aimed to investigate the concordance between the histopathologic and molecular methods used in the diagnosis of H pylori infection. Materials and Methods Patients aged 2‐18 years who had a history of epigastric pain and/or nausea persisting for longer than 1 month underwent upper gastrointestinal endoscopy. Biopsies were taken from the gastric antral mucosa. In the samples detected with H pylori in the histopathologic examination, the presence of H pylori and H pylori resistance to clarithromycin and fluoroquinolones was investigated using the GenoType HelicoDR test which allows the detection of wild‐type and mutant genes. The strains detected with more than one mutant gene are defined as hetero‐resistant strains. Results The 93 patients that underwent DNA extraction and amplification included 68 (73.1%) girls and 25 (26.9%) boys with a median age of 15 ± 2.62 (range 6‐17) years. The overall concordance for the diagnosis of H pylori infection between histopathology and PCR was 94%, and H pylori resistance to clarithromycin and fluoroquinolones was 27% and 15%, respectively. Conclusions The high H pylori resistance to clarithromycin and fluoroquinolones among the pediatric patients in our region implicates that the antibiotic sensitivity of strains should be studied prior to administration in accordance with the recommendations provided in the guidelines. Moreover, the presence of hetero‐resistant strains in our patients may be a reason for treatment failure.

Aim We aimed to analyse the influence of the COVID‐19 pandemic on the frequency and clinical presentation of celiac disease. Methods The study included the patients with celiac disease since January 2008. They were divided into 2 groups (diagnosed in pre‐pandemic [January 2008 and February 2020] [ n = 148] and in pandemic period [March 2020 and June 2021] [ n = 47]). Clinical and histological findings were compared between groups. Additionally, data about severe acute respiratory syndrome coronavirus 2 infection were obtained in subgroup patients ( n = 22) with celiac disease diagnosed during pandemic period. Results The number of patients per year (12.1–37.6) and the percentage of patients who were diagnosed with celiac disease/total endoscopy were increased during the pandemic period (2.2% vs. 10%, p < 0.00001). The association of celiac disease with type 1 diabetes mellitus was significantly high in pandemic period (4% vs. 17%, p = 0.002). Frequency of moderate‐severe mucosal lesions was low in pandemic period (42.4% vs. 81.7%, p = 0.0001). Clinical and laboratory markers for the past severe acute respiratory syndrome coronavirus 2 infection were found in 36.3% of patients diagnosed during the pandemic period. Conclusion It seems that the frequency of celiac disease and its association with type 1 diabetes mellitus is increased during the COVID‐19 pandemic in children.

Tricyclic antidepressant (TCA) overdose is one of the common causes of drug poisoning and it has cardiovascular, respiratory and neurological side effects. An 18-month male infant was admitted to our pediatric emergency service due to poisoning with amitriptyline. The infant was unconscious. Tachycardia, irregular and shallow breathing, and tonic-clonic seizures were observed on physical examination. An electrocardiogram displayed a narrow complex tachycardia that was consistent with re-entrant supraventricular tachycardia (SVT). Although antiarrhythmic and anticonvulsive agents were administrated, SVT and seizures persisted. Charcoal hemoperfusion (HP) was performed for 4 hours. The infant’s clinical condition has improved after the charcoal HP, seizures and SVT were not observed. It is concluded that charcoal HP can be used efficiently in patients with severe amitriptyline intoxication.

Background Data on peptic ulcers in childhood are insufficient. The aim of this study is to define the frequency and characteristics of peptic ulcer disease (PUD) in children and to compare with PUD due to H.pylori infection and the others. Methods Pediatric patients that underwent upper gastrointestinal endoscopy between July 2008 and July 2019 were examined. Age, gender, clinical presentation, location of peptic ulcer (PU), presence of H.pylori histopathologically and hemoglobine values were recorded for each paient with PUD from the hospital file records. Patients were divided into two groups as patients with PUD associated H.pylori and patients with PUD associated with other etiologies. Then two groups were compared. Results Sixty (0.98%) of 6216 patients were diagnosed with PUD. Sixty patients comprised 32 (53.3%) male and 28 (46.6%) female with a mean age of 10.59±4.89 years. The most common complaint was abdominal pain (n=40; %60.6). H.pylori was detected in 12 (20%) of 60 patients histopathologically. There was no difference between two groups for age, gender, clinical presentation, anemia or location of PU. Conclusion PUD is a rare disorder in childhood. There is no difference between H.pylori related PUD and the others for clinical presentation, anemia or location of PU. For the discrimination of two groups, biopsy should be taken in all patients.

Background: Acute liver failure (ALF) is a rare multisystemic disease occurring in individuals with no history of liver disease, characterized by coagulopathy and / or hepatic encephalopathy secondary to acute liver injury. It is mostly caused by viral infections, drug intoxication, and metabolic diseases (MD), and can also have an indeterminate etiology. In this study, we aimed to evaluate the demographic and clinical characteristics and clinical outcomes of the patients that presented to our clinic with MD-associated ALF. Methods: This retrospective study reviewed age, gender, parental consanguinity, family history, presence of encephalopathy, laboratory parameters, and clinical outcomes of the patients that presented to our clinic between January 2009 and January 2019. Patients with MD-associated ALF were compared with patients in whom ALF was associated with other etiologies. Results: The study included 39 patients (53.8% boys; mean age + SD 6.13 AE 1.43 years). The total and direct bilirubin, international normalized ratio, and ammoniac levels were significantly higher in patients with MD than in the others (P < 0.05). Moreover, the incidences of hypoglycemia, death of a sibling and / or a family history of liver disease were also higher in patients with MD than in the others (P < 0.05). On the other hand, alanine aminotransferase (ALT) levels were significantly higher in patients with other etiologies. Conclusions: Metabolic diseases should be kept in mind in patients with a history of parental consanguinity and a positive family history of liver disease along with less increased alanine aminotransferase than expected, and increased bilirubin, international normalized ratio, and ammoniac levels and hypoglycemia. As the number of these parameters increases, the chance of diagnosis increases.

Çölyak hastalığı (ÇH) genetik olarak duyarlı kişilerde, başlıca buğdaydaki glutenin tetiklediği, proksimal ince bağırsağın inflamasyonuyla karakterize olan kronik bir hastalıktır. 1 Türk Çölyak Hastalığı Çalışma Grubu sağlıklı okul çocuklarında ÇH prevelansını 1:212 (%0,47) olarak bildirmiştir. 2 Tüm dünyada ÇH prevelansı artmasına rağmen klasik ÇH (ishal, karında distansiyon, büyüme geriliği) azalırken, nonklasik formu (anemi, osteoporoz, boy kısalığı) artmaktadır. 3 Özellikle yaş arttıkça nonklasik formu daha sık görülmektedir. 4 Zamanla serolojik testlerin artması, güvenli endoskopi koşulları ve dok

Serum resolvin D1 levels as a marker of inflammation in constipation dominant irritable bowel syndrome