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.
Objective To investigate the effect of inflammation on the conducting system of the heart in patients diagnosed with brucellosis. Methods A total of 42 patients diagnosed with brucellosis and 39 age and sex-matched healthy children were enrolled into the study. Pre- and post-treatment electrocardiographic parameters in brucellosis and control group were recorded from an electrocardiogram for each patient. Results The results indicated that the parameters including Pmax, Pdis, QTmax, QTdis, QTcdis, Tp-edis interval and Tp-emax/QTmax and Tp-emax/QTcmax ratios, which are known to be key indicators for the prediction of severe atrial or ventricular arrhythmia and sudden cardiac death and also important parameters used as the indicators for the non-invasive evaluation of the transmural heterogeneity were significantly longer in the study group compared with the control group (p < 0.05). Conclusion In this study, it was determined that the brucella disease had more cardiac involvement than thought, and this was more in the subclinical form of cardiac involvement.
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.
Background The purpose of this study was to compare the clinical symptoms and pathological consequences of Helicobacter pylori (H. pylori) infection between children and adults and determine the levels of expression of FOX3P and IL‐17A to examine the Th17/Treg balance. Methods Forty pediatric and 40 adult patients who were followed up at the Pediatric Gastroenterology and Internal Medicine Gastroenterology Departments were enrolled in the study. In our case‐control study, gastric tissue specimens were evaluated using the updated Sydney system, and the number of cells expressing FOXP3/IL‐17A (Treg and Th17 cell markers) was analyzed immunohistochemically. In addition, each case was evaluated using a clinical follow‐up questionnaire. Results Clinical signs and symptoms of children and adults were similar. IL‐17A and FOXP3 levels were significantly higher in children and adults with H. pylori (+) than in those without H. pylori (−) (p < .001). In patients with H. pylori (+), the mean FOXP3 level was significantly higher, whereas the mean IL‐17A level was significantly lower in children than in adults (p < 0001 for both groups). In children with H. pylori (+), bacterial density was negatively correlated with IL‐17A level and positively correlated with FOXP3 level. In adults with H. pylori (+), there was a statistically significant, highly positive correlation between bacterial density and levels of IL‐17A and FOXP3. Conclusions Treg cells are suggested to more predominant in children than in adults, IL‐17A levels decrease as H. pylori bacterial density increases. In conclusion, immune responses incline toward Treg, which increases the susceptibility to persistent infections.
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
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