A rare cause of globus pallidus and dentate nucleus hyperintensity in childhood: MBOAT mutation

Mutations in mammalian membrane-bound O-acyltransferase domain-containing (MBOAT) 7 gene are a rare cause for intellectual disability, developmental delay, autistic findings, epilepsy, truncal hypotonia with appendicular hypertonia, and below-average head sizes. Pathogenic variants in MBOAT7 gene show these nonspecific clinical features that are seen in many other neurometabolic diseases. Therefore, specific neuroimaging findings can be valuable key factors for differential diagnosis. Magnetic resonance imaging (MRI) findings of T2 hyperintensity in bilateral globus pallidi and dentate nuclei are seen in a few neurometabolic diseases with similar clinical features of developmental delay and hypotonia, as in our cases. While evaluating the patients with similar phenotypes and specific MRI findings, MBOAT7 deficiency should be kept in mind. Here, we identified two brothers who had a novel homozygous variant in MBOAT7 gene and aimed to raise awareness about this newly described disease

Acute necrotizing encephalopathy associated with RANBP2 mutation: Value of MRI findings for diagnosis and intervention

Introduction: Acute necrotizing encephalopathy (ANEC) is a rare entity characterized by encephalopathy following a febrile illness. Most patients are sporadic; however, recurrent and familial cases have been associated with RAN-binding protein 2 (RANBP2) mutation. Well-defined MRI findings can even be life-saving with early diagnosis and treatment. Methods: In this article, nine pediatric cases diagnosed with ANEC1 both clinically and radiologically, and with least one variation in the RANBP2 gene, are presented. Results: All patients were previously healthy and presented with encephalopathy after an acute febrile infection. The patients of 44% had a similar attack history in their family. Influenza A/B was detected in 7 patients (78%). One patient was admitted at age 32 years old. The first clinical findings of patients were encephalopathy (100%), seizure (44%), vision problems (33%), ataxia (11%), and monoplegia (11%). Recurrent attacks were seen in two (22%) patients. Brain MRI findings including bilateral thalamus, external capsules, and brainstem involvements were highly suggestive for RANBP2 mutation. Based on MRI findings, genetic analyses were quickly performed and confirmed. All of the patients were treated with empirical encephalitis treatment, oseltamivir, intravenous immunoglobulin (IVIG), high-dose steroid and, if necessary, plasmapheresis, but three (33%) patients died despite treatment. Conclusion: ANEC associated with RANBP2 mutation may occur early or late-onset and can be recurrent and fatal. Therefore, early diagnosis and treatment have the potential to modify the severity of this encephalopathy. Well-defined MRI findings are highly instructive for early diagnosis

Positive psychology in educational administrationEğitim yönetiminde pozitif psikoloji

In this study, it was aimed to question the intellectual foundations of educational administration with the discussion of the relationship between educational administration and positive psychology. The most importantjustification forthis study is that foundations of educational administration are based on positivist paradigm and in parallel with this the ignorance of human features. Positivist paradigm caused that educational administration is perceived as technical-mechanical area more and some areas in educational administration such as philosophy, psychology, sociology, anthropology, literature is neglected. This negligence led to the management is regarded as administration and management theories are adapted to the educational organizations. However, educational organizations are value-based organizations. In this study, it was hoped that to start a debate about the place of positivist paradigm in the educational administration in order to emphasize the deficiency.In recent years, positivist psychology has been especially based on positive human features which are the neglected subject of psychology. In the article, it was mentioned that positivist psychology supplied with humanist psychology and then analyzed how can be taken advantage of positivist psychology in educational administration area. ÖzetBu çalışmada, eğitim yönetimi ile pozitif psikoloji arasındaki ilişki tartışılarak, eğitim yönetiminin düşünsel temellerinin sorgulanması amaçlanmıştır. Eğitim yönetimi alanının temellerinin pozitivist paradigma kaynaklı olması ve buna bağlı olarak insancıl özelliklerin göz ardı edilmesi bu çalışmanın en önemli gerekçesidir. Pozitivist paradigma, eğitim yönetimi alanının daha çok teknik-mekanik bir alan olarak algılanmasına ve eğitim yönetiminde felsefe, psikoloji, sosyoloji, antropoloji, edebiyat gibi alanların ihmal edilmesine yol açmıştır. Bu ihmal işletmenin yönetim sanılmasına ve yönetim kuramlarının birebir eğitim örgütlerine uyarlanmasına yol açmıştır. Ancak eğitim örgütleri değer merkezli örgütlerdir. Bu bağlamda bu çalışmada, söz konusu eksikliği vurgulamak amacı ile pozitif psikolojinin eğitim yönetimi alanındaki yeri ile ilgili bir tartışma başlatılmak istenmiştir. Pozitif psikoloji son yıllarda özellikle psikolojinin ihmal edilen bir konusu olan olumlu insanın özellikleri üzerinde temellenmektedir. Makalede, pozitif psikolojinin beslendiği insancıl psikolojiden söz edilmiş, daha sonra da eğitim yönetimi alanında pozitif psikolojiden nasıl yararlanılabileceği ile ilgili bir çözümleme yapılmıştır

ITPA related developmental encephalopathy: Key role of neuroimaging

A 4-month-old girl presented with poor head control. She was born at term without complications. Parents were nonconsanguineous but from the same village. Her neurological examination revealed normal deep tendon reflexes with flexor plantar responses. She had microcephaly (head circumference 36 cm, -3.5 SD) and also dysmorphic features including a high arched palate, long philtrum, anteverted auricles. Metabolic studies including ammonia, serum amino acids, urine organic acids, acylcarnitine profile, lactate, pyruvate levels, and thyroid function studies were normal. Magnetic resonance imaging (MRI) of the brain showed delayed myelination (hyperintensities in the posterior limb of internal capsule) in the T2- weighted image and restricted diffusion in the posterior limb of the internal capsule, optic radiation, cerebral peduncles, substantia nigra, the pyramidal tracts in the midbrain, and cerebellar white matter [Figure 1]. After one month of follow-up, the patient exhibited intractable tonic seizures. Interictal electroencephalogram showed focal spike and slow waves in the left occipital region. She was treated with phenobarbital, levetiracetam, and topiramate. Whole–exome sequencing (WES) analysis revealed a homozygous pathogenic splice-site variant c. 124 + 1G > A located in intron 2 of ITPA gene (PVS1, PM2, PP3, PP5). This variant had been reported previously (rs376142053).{Figure 1

Two newborn case reports diagnosed as Walker Warburg syndrome

Walker-Warburg sendromu (WWS) otozomal resesif (OR) geçişgösteren, retinal ve serebral anomaliler ile karakterize bir konjenital muskuler distrofidir. Bu makalede, öyküde akraba evliliğiolan hipotoni, makrosefali, tipik MR bulguları ve yüksek kreatinin kinaz düzeyi ile WWS tanısı koyduğumuz iki olgu sunulacaktır. Bu olguların sunulmasındaki amaç WWS için karakteristik vediagnostik olan MR bulgularını vurgulamak, nadir görülen busendrom için pediatristlerin yanı sıra radyologların da dikkatiniçekmek, OR geçiş göstermesi nedeniyle aileye verilecek danışmanlığın önemini vurgulamaktır.Walker-Warburg Syndrome (WWS) is a an inherited autosomal recessive congenital muscular atrophy characterized by retinal and cerebral anomalies. In this report two cases who had history of consanguineous marriage diagnosed as WWS according to findings of hypotonia, typical MR images and high creatini-ne phosphokinase levels, were presented. The aim of presenting these cases was to emphasize the characteristic and diagnostic MR findings for WWS, to distract attention of radiologists and pediatricians to this rarely seen syndrome and to emphasize the genetic counseling of families due to autosomal recessive inheritance of WWS

The impact of COVID-19 pandemic and quarantine process a center in Turkey on anxiety levels of pediatric patients with epilepsy

Introduction: In this study, we aimed to compare the levels of state and trait anxiety in pediatric patients with epilepsy and healthy controls during the COVID-19 outbreak in Turkey. Materials and Methods: In this study, the state (STAI-I) and trait (STAI-II) anxiety scales were applied to patients between the ages of 10-17 years that had been followed due to epilepsy and were in quarantine. Anxiety status and potential risk factors were compared with healthy age and gender-matched control group. Results: This study included 40 epilepsy patients and 40 controls. Among the patients in the epilepsy group 92.5% had moderate and 7.5% had severe anxiety (mean value of STAI-I and STAI-II were 40.3±4.8 and 40.9±10.5, respectively). There was no significant difference between epilepsy and controls groups in terms of mean STAI-I and STAI-II scale scores (p=0.756, 0.914). When the state anxiety scores were categorized as low, moderate, and high anxiety levels, moderate-to-high state anxiety was detected in the epilepsy group, and moderate-to-low state anxiety in the control group. The state anxiety level was found to be high in patients with high seizure frequency (p=0.045). No significant relationship was found between state and trait anxiety scale scores and factors such as epilepsy duration, quarantine duration, seizure type, drug resistance, and type of antiepileptics. Conclusion: In situations that commonly affect community health, clinicians should focus also on the mental health of epileptic patients. Therefore, we believe that mental health support should be provided to pediatric patients with epilepsy

The significance of MUAC z-scores in diagnosing pediatric malnutrition: A scoping review with special emphasis on neurologically disabled children

This review by a panel of pediatric gastroenterology-hepatology-nutrition and pediatric neurology experts aimed to address the significance of mid-upper arm circumference (MUAC) assessment in diagnosis of pediatric malnutrition. Specifically, the potential utility of recently developed MUAC z-score tape in clinical practice for larger patient populations was addressed including the neurologically disabled children. In accordance with the evidence-based data, four statements were identified by the participating experts on the utility of MUAC z-score tape, including (1) MUAC z-scores correlate with body mass index (BMI) and weight for height/length (WFH/l) z-scores in diagnosing malnutrition; (2) MUAC z-score tape offers a higher sensitivity to diagnose the mild and moderate malnutrition and better ability to track the changes in nutritional status over time than the other single datapoint measurements; (3) Using single-step MUAC z-score tape in children with cerebral palsy (CP) seems to provide more reliable data on anthropometry; and (4) The clinical value of the tool in classifying secondary malnutrition in CP should be investigated in large-scale populations. In conclusion, enabling single-step estimation of nutritional status in a large-scale pediatric population regardless of age and within a wide range of weight, without formal training or the need for ancillary reference charts and calculators, MUAC z-tape offers a favorable tool for easier and earlier diagnosis of pediatric malnutrition. Nonetheless, further implementation of MUAC z-score screening in larger-scale and/or special populations is necessary to justify its utility in relation to other primary anthropometric indicators in diagnosis of malnutrition as well as in treatment monitoring in the community and hospital setting.Abbott Nutrition Turkey ; KAPPA Consultancy Training Research Ltd

Management of priapism: Results of a nationwide survey and comparison with international guidelines

Objective: The aim of this study is to evaluate current urologic practice regarding the management of priapism in Turkey and compare with international guidelines. Methods: Urologists and urology residents were invited to an online survey consisting of 30 multiple-choice questions on priapism-related clinical practices that were considered most important and relevant to practices by using Google Forms. Results: Total number of responses was 340. Respondents reported that they recorded a detailed patient’s medical history and physical examination findings (n = 340, 100%) and laboratory testing, which includes corporal blood gas analysis (n = 323, 95%). Participants announced that they performed Doppler ultrasound for 1/4 cases (n = 106, 31%), but 22% of the participants (n = 75) replied that they performed in >75% of cases. Participants (n = 311, 91%) responded that the first-line treatment of ischemic priapism is decompression of the corpus cavernosum. Moreover, most respondents (n = 320, 94%) stated that sympathomimetic injection drugs should be applied as the second step. About three-quarters of respondents (n = 247, 73%) indicated adrenaline as their drug of choice. Phosphodiesterase type 5 inhibitors seems to be the most preferred drug for stuttering priapism (n = 141, 41%). Participants (n = 284, 84%) replied that corpora-glanular shunts should be preferred as the first. A large number of participants (n = 239, 70%) declared that magnetic resonance imaging can be performed in cases with delayed (>24 hours) priapism to diagnose corporal necrosis. Most of the participants (84%) responded that penile prosthesis should be preferred to shunts in cases with delayed (>48 hours) priapism. Conclusion: It would be appropriate to improve the training offered by professional associations and to give more training time to the management of priapism during residency

Clinical, genetic, and outcome characteristics of pediatric patients with primary hemophagocytic lymphohistiocytosis

Objectİive: In this study, we sought to describe the clinical, laboratory, and genetic characteristics of patients diagnosed with primary hemophagocytic lymphohistiocytosis. Thus, we aimed to evaluate the early diagnosis and appropriate treatment options for pediatric hemophagocytic lymphohistiocytosis patients. Materials and Methods: Medical records of 9 patients diagnosed with primary hemophagocytic lymphohistiocytosis between November 2013 and December 2019 were analyzed retrospectively. Clinical, genetic, and laboratory characteristics, family histories, initial complaints, physical examination findings, age at diagnosis, treatment choices, and clinical follow-up of all patients were investigated. Results: The mean age at diagnosis was 11 months (range: 1.5 months to 17 years). Genetic analysis was performed in all patients, and a disease-related mutation was detected in 8 (89%) of them. Among clinical features, 6 (66%) patients had fever, 5 (56%) had splenomegaly, 4 (44%) had lymphadenopathy, 4 (44%) had skin rash, and 4 (44%) had neurological findings. Hemophagocytosis was observed in the bone marrow samples of 6 (66%) patients. Disease remission was achieved in 7 (78%) patients. Hematopoietic stem cell transplantation was performed in 7 (78%) patients. Conclusion: Hemophagocytic lymphohistiocytosis may present with different clinical symptoms that can cause a significant diagnostic delay. The only curative treatment option in primary hemophagocytic lymphohistiocytosis patients is hematopoietic stem cell transplantation. The chemotherapy should be started as early as possible, in order to achieve a disease remission. Patients should be referred to the appropriate bone marrow transplant center for hematopoietic stem cell transplantation as soon as they reach the disease remission

High rates of malnutrition and epilepsy: Two common comorbidities in children with cerebral palsy

WOS: 000458367000005PubMed ID: 30761843Background/aim: The aim of this study was to evaluate the nutritional status of children with cerebral palsy and determine the particular characteristics of the disorder. Materials and methods: The nutritional status of the children was assessed by the Gomez classification using weight-for-age. The Gross Motor Function Classification System was used to determine the gross and fine motor functions. Results: The study was conducted with 197 children (58.4% males) between the ages of 1 and 18 years old. Asphyxia (44.1%) was the primary etiological factor, and spastic quadriplegia (41.6%) was the most common type of cerebral palsy. Malnutrition was the most frequent comorbidity and the overall malnutrition rate was 76.6%. The most common type of malnutrition was severe malnutrition, which was seen in 70 patients (35.5%). Epilepsy was the second most common comorbidity, seen in 51.7% of the cases. Conclusion: Our results revealed a high rate of malnutrition and epilepsy in children with cerebral palsy. These two more common significant comorbidities that influence the outcomes of children with cerebral palsy should be carefully evaluated and successfully managed. Families of children with cerebral palsy and their physicians should be educated about the nutritional status in these children