Inci Nur Saltik-Temizel

Background/Objectives: Dysphagia leads to severe complications, but data on patient profiles are limited in Türkiye. In this study, we present swallowing characteristics across etiologies and examine the association between a history of pneumonia and videofluoroscopic swallowing study (VFSS) findings. Methods: This retrospective study included 1055 adults, comprising a large, heterogeneous outpatient population, referred for swallowing evaluation between 2015 and 2018. Clinical data (demographics, diagnoses, feeding status, etc.) and VFSS findings (Penetration–Aspiration Scale, PAS; pharyngeal residue) for liquid and semisolid consistencies were recorded from our electronic database. Associations were initially assessed using the chi-square test. A logistic regression analysis was performed to identify factors associated with pneumonia history. Results: Neurologic diseases (62.1%) were the most frequent diagnosis. VFSS identified liquid aspiration in 53.9% (61.8% silent) and semisolid aspiration in 20.1% (72.5% silent) of patients. Pharyngeal residue occurred in up to 10.6% of patients for liquids and 24.3% for semisolids. Diet recommendations were modified for 43.3% of patients (p < 0.05). Overall, 26.6% of patients had a history of pneumonia. In unadjusted, exploratory comparisons, pneumonia history was significantly associated with higher frequencies of aspiration and silent aspiration (p < 0.001), while pharyngeal residue was comparable between groups (p > 0.05). Multivariable logistic regression analysis showed that nonsilent aspiration (PAS 6–7) and silent aspiration (PAS 8) were associated with pneumonia history in both liquid (OR = 2.18 and 3.06) and semisolid consistencies (OR = 2.32 and 3.71), and that pharyngeal residue in semisolid consistency was also associated with pneumonia history (OR = 1.57). Conclusions: This study provides a comprehensive clinical profile of dysphagia in Türkiye, highlighting high rates of silent aspiration and the role of instrumental assessment in guiding safe feeding. While a significant association was observed between pneumonia history and impaired swallowing safety and efficiency, the retrospective nature of this study precludes causal interpretations.

Background/Objectives: This study aims to identify genetic variants associated with early-onset inflammatory bowel disease (IBD) and to improve diagnostic and therapeutic approaches. In selected monogenic IBD cases, treatment included colchicine, interleukin-1 inhibitors, and hematopoietic stem cell transplantation. Methods: This study included patients with early-onset IBD, defined as IBD diagnosed before the age of 10, who were under follow-up at the Department of Pediatric Gastroenterology, Hacettepe University, and agreed to participate between December 2018 and April 2021. Whole-exome sequencing (WES) was performed prospectively in patients without a prior diagnosis of monogenic disease, while clinical and laboratory data were reviewed retrospectively. Identified variants were evaluated for pathogenicity using standard bioinformatics tools. Results: A total of 47 patients were enrolled, including 33 boys (70.2%) and 14 girls (29.8%). The median age at symptom onset was 36 months (IQR: 10–72), and the median age at diagnosis was 3.7 years (IQR: 1.5–7.6). Crohn’s disease was diagnosed in 53.2% (n = 25), ulcerative colitis in 38.3% (n = 18), and unclassified IBD in 8.5% (n = 4). Monogenic IBD was identified in 36.2% (n = 17) of patients, including nine with Familial Mediterranean Fever and others with glycogen storage disease type 1b (n = 2), XIAP deficiency, chronic granulomatous disease, DOCK8 deficiency, IL10 receptor alpha defect, LRBA deficiency, and NFKB2 deficiency (n = 1 each). A novel SLC29A3 gene variant (c.480_481delTGinsCA, p.V161I) (transcript ID: ENST00000479577.2) was identified in 76.6% (n = 36) of patients. Conclusions: This study underscores the importance of genetic variants in early-onset IBD, particularly MEFV and the novel NFKB2. The frequent detection of the SLC29A3 variant may suggest its potential involvement in the pathogenesis of the disease.

Hemophagocytic lymphohistiocytosis (HLH) is a rare, potentially fatal, severe condition of hyperinflammation caused by the uncontrolled proliferation of activated lymphocytes and histiocytes secreting high amounts of inflammatory cytokines. Here we report a fatal hemophagocytic syndrome in a 11-year-old boy with a diagnosis of both Crohn's disease receiving immunosuppressive therapy and familial Mediterrenean fever. It is important to evaluate the patients with inflammatory bowel disease receiving immunosuppressive therapy presenting with unexplained fever, cytopenia, progression of organomegaly and biochemical changes for the investigation of HLH for diagnosis and treatment. (C) 2009 European Crohn's and Colitis Organisation. Published by Elsevier B.V. All rights reserved.

Familial Mediterranean fever (FMF) and inflammatory bowel disease (IBD) concordance has been investigated in a few studies. We investigated MEFV mutations and prevalence of FMF disease in Turkish children with IBD and their relationship with the disease severity. Sixteen patients with ulcerative colitis (UC), 14 with Crohn’s disease (CD) and three with indeterminate colitis (IC) were enrolled in the study (median age 13 years, range 0.6–16 years, n = 19 boys). Demographic, clinical and laboratory characteristics of the patients were evaluated as well as the parameters of disease severity. All patients were screened for 12 common MEFV mutations. MEFV mutations were detected in 17 of 66 (25.7%) alleles. Seven patients (four patients with CD, two with IC, and one with UC) were also diagnosed as FMF. FMF disease was found in seven of all IBD patients (21.2%) and four of them had CD. M694V was the leading mutation, and as a disease-causing mutation, it was found to be significantly more frequent in CD patients than UC patients (Fisher’s exact test P = 0.03). Demographics, laboratory evaluations, growth parameters, extraintestinal manifestations, and treatment with immunosuppressive agents other than steroids were comparable between the patients with and without FMF in most aspects. Although this is a small cohort, disease-causing MEFV mutations and FMF disease rate were increased among our patients with IBD. The increase was prominent among CD patients, whereas in UC the rate was similar to the Turkish healthy control population.

Bone demineralization is a significant problem in pediatric inflammatory bowel disease. Contributing factors include inadequate nutrition, corticosteroid therapy and decreased physical activity. Although zinc is needed for osteoblastic activity and collagen synthesis, its role in bone development is uncertain. The aim of this study was to investigate the relation between the serum zinc level and bone mineral indexes of 28 children with inflammatory bowel disease. Bone mineral content and bone mineral density at lumbar 1-4 vertebrae were measured by dual energy X-ray absorptiometry in all patients and 56 controls. Serum zinc levels of patients and 31 controls were determined by spectrophotometric method. The mean bone mineral density values of patients and controls were 0.661+/-0.201 g/cm2 and 0.751+/-0.175 g/cm2, the mean bone mineral content values were 33.357+/-17.104 g and 38.968+/-14.663 g, and the mean serum zinc levels were 101.2+/-28.8 microg/dl and 108.9+/-15.9 microg/dl, respectively. All controls had normal serum zinc level; however, 11 (39.3%) patients had low serum zinc level (p=0.000). The ratio of patients with Z-score below the -2SD was higher in patients with low zinc level than in patients with normal zinc level (70% vs. 42.8%). Although insignificant, some of the children with IBD had low levels of serum zinc and these patients had lower Z-scores than the others. Further studies including large numbers of patients may reveal a certain effect of zinc on bone development in patients with inflammatory bowel disease.

Pityriasis lichenoides is an uncommon, benign skin disorder with two major variants: acute and chronic. Autoimmune hepatitis comprises heterogeneous forms of chronic hepatitis that are generally progressive and often fluctuating. Two major forms of this entity are recognized. Herein, we report the concurrence of pityriasis lichenoides chronica with type I autoimmune hepatitis in a child, which, to the best of our knowledge, has not been previously reported. Although it is hard to say whether an etiologic relationship or coincidental coexistence occurred between the two entities in our patient, some common mechanisms may be involved in both diseases.

More than half of the children with chronic hepatitis B infection are nonresponders to interferon-alpha. The aim of this study was to investigate the efficacy of lamivudine and interferon-alpha combination therapy after a 3-month lamivudine induction in children with chronic hepatitis B. Twenty naive children were given lamivudine (4 mg/kg per day; maximum, 100 mg) alone for 3 months; then interferon-alpha (10 MU/m, thrice weekly) was added to lamivudine for 6 months. After interferon-alpha was stopped, lamivudine alone was continued for 6 months. Therapy was stopped 6 months after HBeAg seroconversion. Every 3 months, HBV markers were studied and virologic response was defined as HBV DNA negativity, and HBeAg loss with AntiHBe seroconversion. At the end of 15 months, virologic response was achieved in 11 (55%) of patients and 12 patients (60%) cleared hepatitis B e antigen. Therapy was well tolerated. Preliminary results of our study seem to indicate that lamivudine and high-dose interferon-alpha combination therapy after a 3-month lamivudine induction may represent an effective treatment option for children with chronic hepatitis B.

Liver disease is associated with increased levels of hyaluronic acid (HA). To evaluate serum HA concentrations in children with cirrhosis and its relation with liver function tests and Child-Pugh score. Twenty-two children with biopsy-proven liver cirrhosis were studied. All were assessed for the presence of ascites or encephalopathy and liver function tests were performed. Patients were categorized according to Child-Pugh criteria. Serum HA was measured using microELISA (normal 0-100 ng/mL). Twenty-two children with chronic hepatitis B and no cirrhosis were studied as controls. Serum HA level in the cirrhotic children was 85.2 (72.8) ng/mL; levels were high (166.0 [46.3] ng/mL; range 115-246) in 8 (36.4%) patients. Three of 11 (27.2%) Child-Pugh class A patients, 3 of 8 (37.5%) class B patients, and 2 of 3 (66.7%) class C patients had elevated serum HA values (p=ns). Serum HA levels correlated with direct bilirubin level. The control group had lower levels (4.8 [2.3] ng/mL; p< 0.05), which were in the normal range. Serum HA level may be useful as a diagnostic tool in children with cirrhosis.