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Competing Interests: Disclosure The authors report no conflicts of interest in this work.

Competing Interests: Conflict of interest The authors declare that they have no conflict of interest.

Involuntary movement disorders are rare in childhood. Hyperkinetic movement disorders including chorea stand as the leading cause. Although Sydenham chorea is the major diagnosis in most children and adolescents, appropriate differential diagnosis is fundamental for a final decision. A detailed and careful history as well as physical examination is the principal proceeding for accurate diagnosis. Herein, we report on an adolescent girl who was admitted to our hospital with chorea and subsequently diagnosed with systemic lupus erythematosus (SLE). Accompanying joint complaints in the patient's history, including growth retardation noticed during a physical examination and bicytopenia recognized in laboratory evaluation, increased the suspicion of SLE rather than Sydenham chorea in the patient. Central nervous system involvement defined as neuropsychiatric lupus presents wide clinical findings varying from stroke and seizures to psychosis and cognitive dysfunction. Although disease activity, persistently positive anticardiolipin antibodies, and lupus anticoagulant positivity are reported to be the most important risk factors in neuropsychiatric lupus, they are not always directly correlated. We present this patient in order to draw attention to the importance of physical examination and history in the differential diagnosis of chorea in childhood., (© 2021. Springer Medizin Verlag GmbH, ein Teil von Springer Nature.)

Objective: Breastfeeding is the principal feeding source in the first years of life. Its targeted rates are not achieved properly, globally. Multifactorial reasons have been reported, but the effect of the facilities in the hospitals including lactation consultation clinics have rarely been discussed. The aim of this study was to assess the effects of breastfeeding education in a first officially organized clinic. This may further help authorities make any necessary interferences and improve public health strategies., Materials and Methods: A cross-sectional, interventional study was performed in 100 mothers who were given breastfeeding education and was compared with 100 mothers without education. All of the mothers were interviewed to assess breastfeeding attitudes after 6 months., Results: The study group demonstrated higher exclusive breastfeeding rates than controls (76% and 28%, respectively). Having an education was the most significant factor affecting exclusive breastfeeding duration (P < .05). Complementary feeding, bottles, and pacifiers were introduced significantly earlier in the control group (P < .05) There was a negative association between breastfeeding duration and both bottle and pacifier use (P < .05)., Conclusion: Lactation consultation at a breastfeeding clinic improved the breastfeeding rate. Extending this project to maternity and children's hospitals will help to achieve the desired national targets in exclusive breastfeeding.

TIAM Rac1-associated GEF 1 (TIAM1) regulates RAC1 signaling pathways that affect the control of neuronal morphogenesis and neurite outgrowth by modulating the actin cytoskeletal network. To date, TIAM1 has not been associated with a Mendelian disorder. Here, we describe five individuals with bi-allelic TIAM1 missense variants who have developmental delay, intellectual disability, speech delay, and seizures. Bioinformatic analyses demonstrate that these variants are rare and likely pathogenic. We found that the Drosophila ortholog of TIAM1, still life (sif), is expressed in larval and adult central nervous system (CNS) and is mainly expressed in a subset of neurons, but not in glia. Loss of sif reduces the survival rate, and the surviving adults exhibit climbing defects, are prone to severe seizures, and have a short lifespan. The TIAM1 reference (Ref) cDNA partially rescues the sif loss-of-function (LoF) phenotypes. We also assessed the function associated with three TIAM1 variants carried by two of the probands and compared them to the TIAM1 Ref cDNA function in vivo. TIAM1 p.Arg23Cys has reduced rescue ability when compared to TIAM1 Ref, suggesting that it is a partial LoF variant. In ectopic expression studies, both wild-type sif and TIAM1 Ref are toxic, whereas the three variants (p.Leu862Phe, p.Arg23Cys, and p.Gly328Val) show reduced toxicity, suggesting that they are partial LoF variants. In summary, we provide evidence that sif is important for appropriate neural function and that TIAM1 variants observed in the probands are disruptive, thus implicating loss of TIAM1 in neurological phenotypes in humans., Competing Interests: Declaration of interests M.J.G.S. is a salaried employee of GeneDx Inc., (Copyright © 2022 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

Objectives: Lumbar puncture (LP) is fundamental for diagnosis and treatment; however, some parents do not provide consent for their children to undergo the procedure, which can make diagnosis and determination of the optimal treatment difficult. The present study aimed to describe the level of knowledge and attitudes toward LP of parents whose children were scheduled to undergo the procedure., Methods: A prospective cross-sectional descriptive study of a convenience sample of parents of 84 children aged 2 months to 17 years scheduled for LP at a single academic children's hospital between 2015 and 2017. Parents were administered a written survey and interviewed by a physician other than the person who did the LP. Data on parental level of knowledge and attitudes regarding LP, in addition to reasons for refusal, were collected.The parents of 84 patients scheduled for LP due to various indications were administered a face-to-face survey interview. The survey was used to collect parental demographic data, as well as opinions and knowledge about LP and postinterventional complications., Results: The mean age of the 84 patients (57% male and 43% female) was 6.4 ± 5.17 years. Lumbar puncture was planned for the presumptive diagnosis of neurological disease in 45.25% of the patients, central nervous system infection in 45.25%, and acute encephalopathy in 9.5%. Among the parents, 65% (n = 55) had no knowledge or attitude about LP prior to the survey interview. The most common parental concern related to LP was paralysis (25%), followed by infertility (2%), mental retardation (1%), and disease progression (1%). Only 4.7% of the parents did not provide consent for their child to undergo LP., Conclusions: We found that most parents had little knowledge about LP, and the most common parental concern was paralysis. Despite this, in our study, only 5% of parents did not consent to LP., Competing Interests: Disclosure: The authors declare no conflict of interest., (Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.)

Competing Interests: The authors declare that they have no conflict of interest.

Refugee children are defined as an at-risk population as they have a high risk of physical and mental health conditions. While data exist regarding the mental health of refugee children, there are limited data about their medical health issues and mortality. Therefore, this study aimed to analyze the demographic data, clinical results, treatment/management data, and mortality data of hospitalized refugee children. This is a descriptive study that analyzed the demographic data, clinical findings, treatment/management data, and mortality data of 728 refugee children aged between 1 month and 18 years who were hospitalized in a tertiary pediatric hospital between 2013 and 2018. During the 5 year duration of this study (2013-2018), there were 12,031 patients hospitalized in the department of general pediatrics. Of these patients, 728 (6%) were refugee children [median age 1.2 (IQR 4.4) years]. The most frequent ethnic origin was Syrian, followed by Iraqi and Afghan [465 (63.87%); 174 (23.9%), and 39 (5.3%), respectively]. The median duration of hospitalization was 6 (IQR 6) days. Those refugee patients who were hospitalized in the pediatric intensive care unit were significantly younger [median age 3.7 (IQR 9.4) years]. The mortality rate in the department of general pediatrics was 16.4% for refugee patients and 8.6% for non-refugee patients (p = 0.001). A logistic regression model revealed that factors associated with mortality included younger age (OR 1.6; CI 1.2-2.1) and being a refugee (OR 2.1; CI 1.3-3.2). Our study revealed detailed knowledge about demographic, clinical, and mortality data, with the largest known series about refugee children in the literature. The results show that mortality rates are significantly higher in refugee pediatric patients who are hospitalized in Turkey than in non-refugee patients.

Chlamydophila Pneumoniae: , a common cause of respiratory tract infections, rarely leads to serious conditions. A 13-year-old boy with serologically confirmed C. pneumoniae infection presented with pneumonia complicated by pericardial and bilateral pleural effusions. He had a large haemorrhagic pericardial effusion from which 1000 ml of fluid was aspirated over 10 days and a right haemorrhagic pleural effusion which required a chest drain and the removal of 700 ml over 5 days. The addition of clarithromycin to ceftriaxone appeared to enhance recovery. As far as we are aware, this is the first report in the English literature of massive haemorrhagic pericardial and pleural effusions in children owing to C. pneumoniae infection.

Competing Interests: Disclosure The authors report no conflicts of interest in this work.

The aim of the presentation of this case is to discuss whether there is an association with eosinophilic granulomatosis with polyangiitis (EGPA) and the use of montelukast, and clarithromycin and to discuss a successful treatment course. A 4-year-old girl with a preceding history of asthma attacks and increased eosinophil counts was admitted. She had been using clarithromycin for five days and montelucast for a month. She was eventually diagnosed with EGPA with detailed examination. Clinicians should remember EGPA in children with asthma and hypereosinophilia. Patients receiving leukotriene receptor antagonists and/or macrolides should be monitored for developing a multisystem disease. Treatment with immunosuppressive agents may be required to ensure a good prognosis., (© 2019 The Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.)

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening syndrome of excessive immune activation. Secondary HLH syndrome develops as a complication of infection, drugs, rheumatologic conditions, or malignancy. The main objectives of this work were to identify the etiology of secondary HLH and prognostic factors associated with mortality. Patients diagnosed with secondary HLH, between January 2011 and December 2016, were retrospectively included in this study. We analyzed clinical and laboratory findings as well as prognostic factors from 24 pediatric patients diagnosed with secondary HLH. The mean age of patients at the time of diagnosis was 79.9 ± 68.7 months (range: 2-202) and 54.2% of the patients were male. The most frequent HLH-2004 criterion was fever (100%). Underlying triggers of HLH were as follows: 13 (54.1%) infections, juvenile idiopathic arthritis in 5 patients (20.8%), drugs in 3 patients (12.5%), malignancies in 2 (0.8%), Kawasaki disease in 1 (0.4%) patient, and 1 (0.4%) with unknown triggers. The median time of diagnosis was 3 days (1-67 days). Overall, the mortality rate was 20.8%. In our logistic regression model, factors associated with mortality were decreased albumin levels (OR1 = 2.3[1.48-3.43]) and etoposide usage (OR2 = 1.22 [1.14-1.89]). The patient's 30-day survival was inferior among patients whose albumin level was 2 g/dL or less compared to those over 2 g/dL. Increased awareness of the underlying condition is critical in HLH patients. Our study emphasizes the prognostic significance of albumin level.

Background: During erythropoietin-stimulating agent (ESA) treatment, hemoglobin (Hb) levels usually fluctuate; this phenomenon is known as "Hb cycling (HC)." In this study, we aimed to evaluate the predictors of HC and its impact on left ventricular hypertrophy (LVH) as a patient-important outcome parameter in pediatric dialysis patients., Methods: Records of patients followed up in nine pediatric nephrology centers between 2008 and 2013 were reviewed. More than 1 g/dL decrease or increase in Hb level was considered as HC. Patients were divided into two groups according to 12-month Hb trajectory as rare cycling (RC) (≤ 3) and frequent cycling (FC) (> 3 fluctuation) as well as three groups based on T-A-Hb levels: < 10, 10-11, and > 11 g/dL., Results: Two hundred forty-five dialysis (160 peritoneal dialysis (PD) and 85 hemodialysis (HD)) patients aged 12.3 ± 5.1 (range 0.5-21) years were enrolled in this study. Fifty-two percent of the patients had RC, 45% had FC, and only 3% had no cycling. There were no differences between HC groups with respect to age, dialysis modality, having anemia, hospitalization rate, residual urine volume, and mortality. Although left ventricular mass index (LVMI) tended to be higher in RC than FC group (65 ± 37 vs 52 ± 23 g/m 2.7 , p = 0.056), prevalence of LVH was not different between the groups (p = 0.920). In regression analysis, FC was not a risk factor for LVH, but low T-A Hb level (< 10 g/dL) was a significant risk for LVH (OR = 0.414, 95% CI 0.177-0.966, p = 0.04). The target Hb levels were more often achieved in PD patients, and the number of deaths was significantly lower in non-anemic patients (Hb level > 11 g/dL)., Conclusion: Hb cycling is common among dialysis patients. Severity of anemia rather than its cycling has more significant impact on the prevalence of LVH and on inflammatory state.

Argininemia is a rare hereditary disease due to a deficiency of hepatic arginase, which is the last enzyme of the urea cycle and hydrolyzes arginine to ornithine and urea. Herein we report a patient with arginase I (ARG1) deficiency who presented with recurrent nonconvulsive status epilepticus and liver failure. A novel homozygous frameshift mutation c.703&#95;707delGGACTinsAGACTGGACC (p.G235Rfs*20) was detected.

Background: Obesity affects all major organ systems and leads to increased morbidity and mortality. Whole blood viscosity is an important independent regulator of cerebral blood flow. The aim of the present study was to evaluate the effect of whole blood viscosity on cerebral artery blood flow velocities using transcranial Doppler ultrasound in pediatric patients with obesity compared to healthy controls and analyze the effect of whole blood viscosity and blood pressure status to the cerebral artery blood flow velocities., Methods: Sixty patients with obesity diagnosed according to their body mass index (BMI) percentiles aged 13-18 years old were prospectively enrolled. They were grouped as hypertensive or normotensive according to their ambulatory blood pressure monitoring. Whole blood viscosity and middle cerebral artery velocities by transcranial Doppler ultrasound were studied and compared to 20 healthy same aged controls., Results: Whole blood viscosity values in hypertensive (0.0619±0.0077 poise) and normotensive (0.0607±0.0071 poise) groups were higher than controls (0.0616±0.0064 poise), with no significance. Middle cerebral artery blood flow velocities were higher in the obese hypertensive (73.9±15.0 cm/s) and obese normotensive groups (75.2±13.5 cm/s) than controls (66.4±11.5 cm/s), but with no statistical significance., Conclusions: Physiological changes in blood viscosity and changes in blood pressure did not seem to have any direct effect on cerebral blood flow velocities, the reason might be that the cerebral circulation is capable of adaptively modulating itself to changes to maintain a uniform cerebral blood flow.

Renal biopsy is an important diagnostic procedure in pediatric nephrology. This study retrospectively investigates the indications, results and complications in a single tertiary children's hospital in Turkey. We evaluated the native and transplant kidney biopsies in Gazi University Pediatric Nephrology Department between 2001 and 2015. A total of 196 biopsies (144 natives and 52 transplants) were included into the study. The mean age of the patients was respectively 10.8 ± 3.5, 13.9 ± 1.5 years. The main indication for a biopsy was non-nephrotic proteinuria with or without hematuria (n= 35), followed by steroid-resistance nephrotic syndrome (SRNS) (n = 34) and Henoch-Schönlein purpura (HSP)-related proteinuria (n = 20) for native kidneys. We found that focal segmental glomerulosclerosis (FSGS) (11.7%) was the most common histopathologic diagnosis for native kidneys, but acute cellular rejection (7.6%) was the most common histopathologic diagnosis for transplant kidneys. The complication rate in our study was founded 6.6% totally. Different complication rates were found in other studies; however, we think that this difference comes from the inspecting methodology of the complications. Hence, we wanted to share our own experience in the context of other studies in the literature.

Black tongue is a rare, benign, self-limiting disorder caused by certain conditions and some medications. We report the first case of a child diagnosed with black tongue associated with ranitidine use. We report our case to emphasize the rare side effect of this frequently used drug. Health care professionals should be aware of the likelihood of ranitidine-induced black tongue in clinical practice., (© 2017 Wiley Periodicals, Inc.)

Background: Hypertension (HT) is a major comorbidity of obesity that is associated with an increased risk of cardiovascular disease and higher mortality. The aim of our study was to evaluate cardiac function in obese hypertensive (OHT) and obese normotensive (ONT) pediatric patients and determine the effects of plasma nitric oxide (NOx) values on cardiac function, while demonstrating the role of plasma NOx in HT in obese pediatric patients., Methods: The study population consisted of 62 patients (27 boys, 35 girls), aged 13-18 years and 21 age-matched healthy controls. All subjects enrolled in the study underwent echocardiography (Echo) evaluation and ambulatory blood pressure monitoring for HT. Plasma NOx and biochemical values were studied in both patient groups separately., Results: Plasma NOx levels were found to be lower in the OHT group than in the ONT and control groups (p < 0.001) and to be negatively correlated with left ventricular mass index values (p < 0.05). Both the OHT and ONT groups had concentric hypertrophy of the heart., Conclusions: Plasma NOx plays an essential role in obesity-induced HT. Concentric hypertrophy of the left ventricle was found in both the OHT and ONT groups, indicating structural deformation of the heart.

Objective: To determine different clinical presentations of vitamin B12 deficiency in infants., Methods: Infants at the age of 1-20 mo admitted to infancy clinic of authors' hospital between January 2011-2013 with various clinical presentations due to vitamin B12 deficiency were included in the study. Hospital records of all the patients were evaluated by means of history, physical, laboratory, imaging examinations and treatment. The diagnosis was based on a nutritional history of mothers and infants, clinical findings, hematological evaluation, and low level of serum vitamin B12., Results: A total of 20 patients with a mean age of 6.65 ± 4.5 mo were included in the study. The weight and height were below the third percentile in four patients. The most common symptoms of the patients were; infections in 30 %, pallor in 25 %, hypotonia and neuro-developmental delay in 25 %, refusal to solid food or to suck in 20 %, failure to thrive in 15 %, fatigue in 10 %. Twenty-five percent of patients had neurologic signs and symptoms. Anemia was found in 16/20 (80 %) patients. Three (15 %) patients had leukopenia, 7 (35 %) had neutropenia, 2 (10 %) patients had thrombocytopenia. All of the mothers had vitamin B12 deficiency. All of the patients were fed with breast milk. Cyanocobalamin was administered to all the patients and mothers. After the treatment, clinical and laboratory findings of all the patients improved., Conclusions: Vitamin B12 deficiency should be considered in the differential diagnosis of some hematological, neurological, and gastrointestinal disturbances of infants.

This study aims to evaluate BMD and bone biomarkers and to investigate the effects of immunosuppressives on bone disease after RTx. Thirty-three RTR aged 16.7 ± 3.7 yr and healthy controls (n = 32) were enrolled. There was no difference between pre-RTx BMD and BMD at the time of study (45.9 ± 30.9 months after RTx), while both values were lower than controls (p < 0.01 and p < 0.05, respectively). Worst BMD scores were obtained at sixth month after RTx (-0.2 ± 0.9) and best at fourth year (1.4 ± 1.3). 25-hydroxy-(OH) vitamin D and OPG were higher in RTR (p < 0.001). BMD z scores negatively correlated with OPG and cumulative CS doses at the time of study (r = -0.344, p < 0.05 and r = -0.371, p < 0.05, respectively). Regression analysis revealed OPG as the only predictor of BMD (β -0.78, 95% CI -0.004 to -0.013, p < 0.001). The increase in OPG, a significant predictor of BMD, could either be secondary to graft dysfunction or for protection against bone loss. CS doses should be minimized to avoid their untoward effects on bone metabolism., (© 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)