Publications by authors named "Hizli S"

Article Synopsis
  • Congenital diarrhea can be tough to diagnose, especially when standard tests don't give clear results.
  • A female infant presented symptoms of osteopetrosis along with unexplained diarrhea, leading to genetic testing that uncovered a significant deletion on chromosome 16p13.3.
  • This case highlights the need to investigate genetic factors, like 16p13.3 deletions, when diagnosing conditions that seem to involve multiple symptoms.
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Background: Reading medical papers is a challenging and time-consuming task for doctors, especially when the papers are long and complex. A tool that can help doctors efficiently process and understand medical papers is needed.

Objective: This study aims to critically assess and compare the comprehension capabilities of large language models (LLMs) in accurately and efficiently understanding medical research papers using the STROBE (Strengthening the Reporting of Observational Studies in Epidemiology) checklist, which provides a standardized framework for evaluating key elements of observational study.

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Background: Benign recurrent intrahepatic cholestasis (BRIC) is a rare cause of cholestasis with recurrent episodes of jaundice and pruritus without extrahepatic bile duct obstruction. A mutation in the USP53 gene is known to cause BRIC-like cholestasis with normal serum gamma-glutamyltransferase (GGT) levels.

Case: We report a 16-year-old boy with recurrent episodes of cholestasis since 6 months of age with normal serum GGT levels.

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The Çanakkale-Kirazlı region (Turkey) is enriched with minerals, especially aluminum (Al), which dangerously get transported into aquatic media due to several mining and geological activities in recent years. In this study, Al and other potentially toxic metals (PTMs) including B, Ba, Cd, Co, Cr, Cu, Fe, Mn, Ni, Pb, Si, and Zn, in both water and soil samples, were measured for quality determination. Selected metals were also analyzed by the enrichment factor (EF), the geoaccumulation index ( ), the contamination factor (CF), and the pollution load index (PLI) to evaluate both water and soil pollution geogenically or anthropogenically.

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Background: Multisystem inflammatory syndrome in children (MIS-C) is hyperinflammation following coronavirus disease 2019 (COVID-19), which affects many organs. The retina and choroid are affected by COVID-19 through microangiopathy and thrombosis but the literature on MISC-C is limited.

Methods: Thirty children (60 eyes) with MIS-C (the study group, or SG) and 32 age-and gender-matched healthy children (64 eyes) (the control group, or CG) were included in the prospective case-control study.

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Background: The purpose of this study was to compare the demographic, clinical and laboratory characteristics of patients with enthesitis-related arthritis (ERA), familial Mediterranean fever (FMF) and inflammatory bowel disease (IBD), which are inflammatory diseases that may develop sacroiliitis. Thus, it was aimed to reveal various findings that may indicate primary disease in patients with sacroiliitis.

Methods: Pediatric patients aged 6-18 years, who were being followed with a diagnosis of ERA (n = 62), FMF (n = 590), and IBD (n = 56) over the period 2013-2021 were included in the study.

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Background: Celiac disease rarely presents with edema, hypoalbuminemia, acute metabolic deterioration, and electrolyte imbalances. This life-threatening condition is defined as a celiac crisis and may mimic disorders with metabolic derangement and sepsis. The crisis may present at onset or develop in celiac disease patients with poor compliance to a gluten-free diet.

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Background: Pediatric celiac disease (CeD) and type 1 diabetes mellitus (T1DM) have well established effects on eye health but comorbid effect is not known.

Aim: To evaluate the eye health of children with T1DM and CeD to predict microvascular retinal pathologies by diagnosis of probable intraocular pressure increase which is an important glaucoma trigger.

Patients And Methods: In this case-controlled study, 28 eyes of 14 children both T1DM and CeD, with a mean age of 12.

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Due to limited knowledge on the etiopathogenesis of infantile colic (IC) and the insufficiency of data regarding current treatments, different approaches emerge in terms of diagnosis, and treatment modalities globally and also in Turkey. The objective of this study was to observe how infantile colic is diagnosed and treated by paediatricians in Turkey. An anonymous electronic questionnaire was used to collect the respondents' opinions.

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Background: The non-classic presentation of paediatric celiac disease (CeD) becomes increasingly common in daily practice, which requires an awareness of eye findings. The purpose of this study was to evaluate eye involvement and effect of gluten-free diet on ocular involvement in paediatric CeD patients by measuring the thicknesses of choroid and ganglion cell complex (GCC) composed of retinal nerve fibre layer, ganglion cell layer and inner plexiform layer using enhanced depth imaging optical coherence tomography.

Methods: Forty-three CeD patients aged between four and 16 years (mean age: 9.

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Article Synopsis
  • - The study explored the link between FMF mutations and inflammatory bowel disease (IBD) in children, examining 597 pediatric patients with conditions like ulcerative colitis (UC) and Crohn's disease (CD).
  • - Results revealed that 41.9% of patients had FMF mutations, with E148Q and M694V being the most common mutations associated with different types of IBD, and differences in disease characteristics were noted based on mutation types.
  • - The findings suggested that while FMF mutations appeared relevant in UC (showing lower disease activity scores), they did not significantly affect the inflammatory response or clinical outcomes in patients with IBD overall, particularly those with CD.
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Objective: Although the initial reports of COVID-19 cases in children described that children were largely protected from severe manifestations, clusters of paediatric cases of severe systemic hyperinflammation and shock related to severe acute respiratory syndrome coronavirus 2 infection began to be reported in the latter half of April 2020. A novel syndrome called "multisystem inflammatory syndrome in children" (MIS-C) shares common clinical features with other well-defined syndromes, including Kawasaki disease, toxic shock syndrome and secondary hemophagocytic lymphohistiocytosis/macrophage activation syndrome. Our objective was to develop a protocol for the evaluation, treatment and follow-up of patients with MIS-C.

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Background: The aim of this study was to assess the performance of a score-based diagnostic approach (SBDA) proposed in the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) 2012 guideline, and the usefulness of bone mineral density (BMD) measurement in SBDA as an objective finding in the diagnosis of celiac disease (CD).

Methods: The SBDA scores of 153 biopsy-proven celiac diagnosed children (derived from symptomatology, serology, human leukocyte antigen [HLA] analysis, histology) were calculated. Additionally, BMD Z scores obtained at diagnosis were also investigated.

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Objectives: Hepatitis A (HepA) virus is a common infection worldwide that causes inflammation of the liver. Platelet index, particularly plateletcrit (PCT) which shows percentage of blood occupied by platelets, is thought to be potential marker of inflammation. Therefore, we aimed to investigate the changes in PCT percentages during HepA infection.

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Stigma poses an additional burden for people suffering from mental illness, one that often impairs their social participation and can prevent them from seeking adequate help. It is therefore crucial to understand how stigma develops in order to counteract it by setting up effective evidence-based anti-stigma interventions. The present study examines the effect of causal beliefs on stigmatizing behavioral intentions, namely people's desire to distance themselves from persons with mental illness.

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Right atrial aneurysms were first described in 1955, and subsequently, only a few cases have been reported. The etiology of this condition is unknown. Its comorbidity with cholestasis has not previously been reported in the literature.

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The evaluation of the medial clavicular epiphysis via CT plays an important role in the determination of age, particularly the 19th and 22nd ages. Several authors have recommended the use of the Schmeling and Kellinghaus methods in conjunction in the evaluation of the medial clavicular epiphysis. The aim of this retrospective study was to evaluate thin section CT scan images of the medial clavicular epiphysis according to the Schmeling and Kellinghaus method, and to discuss the obtained data in the light of the literature.

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Ecthyma gangrenosum is a rare, necrotizing, bacterial infection of the skin most commonly caused by Pseudomonas aeruginosa. It has a characteristic clinical picture starting with maculopapular eruption followed by hemorrhagic vesicle and evolving into gangrenous ulcer. Although direct skin inoculation without septicemia is also probable, usually ecthyma gangrenosum is pathognomonic for Pseudomonas septicemia, which has a mortality rate of 38-96%.

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Background: Obesity is an important risk factor for non-alcoholic fatty liver disease. Few studies have evaluated the association between vitamin D and non-alcoholic fatty liver disease in obese children. Therefore, we conducted a study to examine the relationship of vitamin D levels and hepatosteatosis in obese children.

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Background: Fetuin A is an inhibitor of insulin action and have been found to be related with subcutaneous lipid accumulation and insulin resistance. The relation of cardiac lipid accumulation, fetuin A and insulin resistance parameters in obese children is not well-known. The aim of the study was to evaluate the relation of serum fetuin A levels with subcutaneous and cardiac lipid accumulation, and insulin resistance parameters in Turkish obese children.

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To determine the prevalence of celiac disease in children and adolescents with migraine, the authors investigated serum levels of tissue transglutaminase antibody immunoglobulin A and total immunoglobulin A from 81 children with migraine and in a healthy control group of 176 children. Study participants who were positive for tissue transglutaminase immunoglobulin A antibodies underwent a duodenal biopsy. Two patients in the migraine group (2.

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Background: Celiac disease is an autoimmune systemic disorder in genetically predisposed individuals precipitated by gluten ingestion.

Objective: In this study, we aimed to determine asymptomatic spike-and-wave findings on electroencephalography in children with celiac disease.

Methods: A total of 175 children with the diagnosis of celiac disease (study group) and 99 age- and sex-matched healthy children as controls (control group) were included in the study.

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Background: The involvement of the peripheral nervous system in children with celiac disease is particularly rare.

Objective: The aim of this study was to assess the need for neurophysiological testing in celiac disease patients without neurological symptoms in order to detect early subclinical neuropathy and its possible correlations with clinical and demographic characteristics.

Methods: Two hundred and twenty consecutive children with celiac disease were screened for neurological symptoms and signs, and those without symptoms or signs were included.

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