179 results match your criteria: "Child Health and Diseases Training and Research Hospital[Affiliation]"

Background: Patients diagnosed with congenital kidney malformations are at an increased risk of developing hypertension, proteinuria, and progressing to chronic kidney disease (CKD). The present study aimed to determine the frequency of masked hypertension and ambulatory arterial stiffness index (AASI) in patients with congenital kidney malformations.

Methods: The study included 174 patients with congenital kidney malformations (48 patients with unilateral renal agenesis (URA), 40 patients with ectopic kidney (EK), 36 patients with horseshoe kidney (HK), 31 patients with multicystic dysplastic kidney (MCDK), 19 patients with unilateral renal hypoplasia (URH), and 45 healthy controls.

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Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency.

J Clin Res Pediatr Endocrinol

January 2025

University of Health Sciences Turkey, Dr. Sami Ulus Child Health and Diseases Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey

Although the most common cause of congenital adrenal hyperplasia (CAH) worldwide is 21-hydroxylase deficiency (21-OHD), which accounts for more than 95% of cases, other rare causes of CAH such as 11-beta-hydroxylase deficiency (11β-OHD), 3-beta-hydroxy steroid dehydrogenase (3β-HSD) deficiency, 17-hydroxylase deficiency and lipoid CAH (LCAH) may also be encountered in clinical practice. 11β-OHD is the most common type of CAH after 21-OHD, and CYP11B1 deficiency in adrenal steroidogenesis causes the inability to produce cortisol and aldosterone and the excessive production of adrenal androgens. Although the clinical and laboratory features are similar to 21-OHD, findings of mineralocorticoid deficiency are not observed.

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Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).

J Exp Med

December 2024

Section of Paediatric Infectious Disease, Department of Infectious Disease, Faculty of Medicine, Imperial College London, London, UK.

Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized a novel statistical framework of gene burden analysis, "burdenMC," which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.

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Background: The most common indication for cholecystectomy in children is cholelithiasis, and routine histopathological examination is performed on all gallbladder specimens. Currently, selective histopathological examination is suggested instead of routine examination due to the low frequency of gallbladder cancer in adults. The purpose of this study was to evaluate the indications, clinical, laboratory and histopathological findings of the cholecystectomy in children.

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Article Synopsis
  • The study investigates the role of genetic factors in infantile hypertrophic pyloric stenosis and its associated rare diseases.
  • It involves a retrospective analysis of neonates from 2000 to 2022 who underwent surgery for this condition and had additional health complications.
  • The findings indicate that 9.8% of these patients had a rare disease, emphasizing the need for early diagnosis and treatment to improve health outcomes.
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  • - Enteroviruses (EV) are the leading cause of aseptic meningitis in children, and their detection in cerebrospinal fluid (CSF) using PCR can help confirm diagnoses and guide treatment.
  • - A study of patients aged 1 month to 17 years revealed that 38.2% had PCR-confirmed EV meningitis, with pleocytosis present in 70.5% of these cases, while convulsions were notably more common in PCR-positive patients without pleocytosis.
  • - The research suggests that accurate diagnosis of EV meningitis through PCR can reduce unnecessary hospital stays and antibiotic usage, ultimately minimizing complications related to care.
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Background/aim: Cytomegalovirus (CMV) is the most common congenital viral infection. Although most children with congenital CMV (approximately 85%-90%) are asymptomatic at birth, findings such as sensorineural hearing loss, microcephaly, and neurodevelopmental retardation can be observed during the follow-up. Among the brain magnetic resonance imaging (MRI) findings of CMV are white matter abnormalities, polymicrogyria, and periventricular calcification.

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Article Synopsis
  • This study focuses on 17α Hydroxylase/17,20 Lyase Deficiency (17OHD), a rare form of adrenal hyperplasia, highlighting its clinical features such as delayed puberty and hypertension commonly diagnosed in late adolescence.
  • Researchers analyzed data from 97 cases across the country, revealing that hypertension was present in 65% and hypokalemia in 34% of patients, with a significant number requiring antihypertensive treatment.
  • The findings suggest that early diagnosis can be guided by hypertension and hypokalemia, while the final heights of patients generally fall within normal ranges, though the connection between genetic mutations and clinical outcomes remains unclear.
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Article Synopsis
  • * A study conducted whole-exome sequencing (WES) on 303 IEI patients in Türkiye, achieving likely genetic diagnoses for 41.1% and discovering 52 novel variants, as well as new potential IEI genes in six patients.
  • * The findings emphasize the importance of cross-cohort outcomes in IEI research and aim to enhance collaboration between clinical and scientific communities.
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Objective: To determine inequalities in access to diabetes technologies and the effect of socioeconomic factors on families with children with type 1 diabetes.

Methods: In this multicenter cross-sectional study, parents of children with type 1 diabetes completed a questionnaire about household sociodemographic characteristics, latest HbA1c values, continuous glucose monitoring (CGM) and insulin pump use of children, the education and working status of parents. These characteristics were compared between technology use (only-CGM, only-pump, CGM+pump, no technology use).

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  • Cardiac rhabdomyoma is the most common benign heart tumor in children, often linked to tuberous sclerosis, and this study analyzed cases diagnosed in newborns at a single center.
  • Over 12 years, 12 newborns were evaluated, revealing that half had tuberous sclerosis and highlighting the average age for diagnosis and treatment experiences with everolimus.
  • The findings indicate that many cardiac rhabdomyomas shrink on their own, but proper monitoring is essential, especially for those with severe cases that could lead to life-threatening issues.
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According to the 2020 CDC criteria, multisystem inflammatory syndrome in children (MIS-C) due to Coronavirus disease-19 (COVID-19) is diagnosed when all of the following criteria are met: fever for+≥+24 hours, laboratory evidence of inflammation, multisystem (+≥+2) organ involvement, evidence of SARS-CoV-2 infection or exposure, and no alternative plausible diagnoses (CDC, 2020). Alternative diagnosis need to be excluded before coming upon an MIS-C diagnosis since there are plenty of infectious diseases that may mimic MIS-C (Dworsky et al., Pediatr Infect Dis J 2021; 40; e159-e161; Yalçinkaya et al.

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Background: Mitral valve prolapse (MVP) is a common valvular disease in children. Symptoms in children with MVP are not explained by the severity of mitral regurgitation alone. Hence, we sought to correlate symptom status with the incidence of anxiety disorder in this population.

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Objective: Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome and familial Mediterranean fever (FMF) are autoinflammatory disorders typically characterized by recurrent fever attacks. These recurrent fever attacks can lead to depression and anxiety in mothers of these patients. This study aimed to compare the depression and anxiety levels in mothers of PFAPA and FMF patients.

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Aim: This study aimed to evaluate aspects of pediatric patients presenting to a hospital in Turkey via emergency ambulance services, including incidence of visits to the hospital, acuity of illness and most common diagnoses, during the one-year period before and after the onset of the coronavrrus dsease 2019 (COVID-19) pandemic.

Methods: This was a retrospective and single center analysis of children, transported by Emergency Medical Services to the Emergency Department (ED) of a children's hospital in Turkey, between 10 March 2019 and 11 March 2021.

Results: Percentage of high acuity group (68.

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Assessment of Heart Rate Variability in Children with Mitral Valve Prolapse.

Pediatr Cardiol

April 2024

Pediatric Cardiology Department, Dr. Sami Ulus Gynecology, Obstetrics, and Child Health and Diseases Training and Research Hospital, Yenimahalle, 06560, Ankara, Turkey.

Background: Mitral valve prolapse (MVP) is a heart valve anomaly with specific electrocardiographic findings and arrhythmia. A predominant sympathetic tone and diminished vagal activity have been reported especially in symptomatic MVP patients.

Objectives: In the current study, we aim to review heart rate variability (HRV) parameters of MVP children in order to determine if there is an impaired autonomic regulation.

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Child abuse and neglect includes any behavior that harms the child or hinders the child's development. The aim of this study was to determine the demographic and clinical characteristics of patients with suspected child abuse or neglect in the pediatric emergency department. Between July 2017 and July 2022, patients admitted to our pediatric emergency department and consulted to the medical social services unit with a preliminary diagnosis of neglect and/or abuse were retrospectively scanned through the registry system.

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Adherence to Growth Hormone Treatment in Children During the COVID-19 Pandemic.

J Clin Res Pediatr Endocrinol

September 2024

İstanbul University, İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey

Objective: Treatment adherence is crucial for the success of growth hormone (GH) therapy. Reported non-adherence rates in GH treatment have varied widely. Several factors may have an impact on adherence.

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Objectives: The aim of this study is to investigate the effect of anti-interleukin (IL)-1/-6 biologics on systemic juvenile idiopathic arthritis (sJIA)-associated macrophage activation syndrome (MAS).

Methods: Demographic, clinical and laboratory data of patients followed up with a diagnosis of sJIA-associated MAS assessed from sixteen paediatric rheumatology centres across the country. The clinical and laboratory features of MAS developing while on biological drugs were compared with those without this treatment.

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Purpose: The purpose of the present paper was to evaluate the clinical and chest radiographic features of pediatric patients with serologically proven Mycoplasma pneumoniae pneumonia.

Materials And Methods: The clinical records and chest radiographs of 55 consecutive patients (28 male, 27 female) with serologically positive IgG mycoplasma pneumonia were reviewed. The pneumonic infiltrates were described on chest radiography into 3 different patterns as a peribronchovascular infiltration, reticulonodular infiltration and consolidation.

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Introduction: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome (PFAPA) is the most common periodic fever condition in children. There is no consensus on treatment to prevent attacks and reduce their frequency. In this study, we aimed to evaluate the effectiveness of colchicine treatment in PFAPA syndrome.

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Tubulointerstitial Nephritis and Uveitis Syndrome During the COVID-19 Pandemic: A Case Series.

Turk J Ophthalmol

February 2024

University of Health Sciences Türkiye, Ulucanlar Eye Training and Research Hospital, Clinic of Ophthalmology, Ankara, Türkiye.

Objectives: To report the ocular findings, laboratory results, and management of patients with tubulointerstitial nephritis and uveitis syndrome (TINU), whose numbers increased during the 2019 coronavirus disease (COVID-19) pandemic.

Materials And Methods: Demographic characteristics, ophthalmic examination findings, laboratory results including polymerase chain reaction (PCR) test for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), serum SARS-CoV-2 immunoglobulin G (IgG) antibody, and treatment of patients diagnosed with TINU between March 2020 and March 2022 were evaluated retrospectively.

Results: The study included 19 eyes of 10 patients (6 female/4 male).

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