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

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

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

Paradoxic relations between basilar artery reconfiguration and superior cervical ganglia ischemia after bilateral common carotid artery ligation

Background: The relationship between superior cervical ganglia (SCG) ischemia due to bilateral common carotid artery ligation (BCCAL) and basilar artery (BA) reconfiguration was investigated. Methods: Twenty-three rabbits were randomly divided into 3 groups: group III rabbits underwent BCCAL (n = 13), group II rabbits were sham-operated controls (n = 5), and group I rabbits did not undergo surgery (n = 5). Degenerated neuron densities (DND) within the SCG were correlated with the BA vasodilatation index (VDI). Results: Mean live and DND in SCG of group I rabbits were 11.235 ± 982/μm3 and 11 ± 3/μm3, respectively, with a mean heart rate of 294 ± 21 beats/min. Mean SCG DND and heart rates were 213 ± 42/μm3 and 242 ± 17 beats/min for the sham group (group II) rabbits and 1743 ± 285/μm3 and 199 ± 19 beats/min for the study group (group III) rabbits, respectively. The BA VDI values in the sham group (group II) (1.32 ± 0.10) and the study group (group III) (0.976 ± 0.112) significantly differed from those in the control group (group I) (1.65 ± 0.12; P < 0.005) versus the sham group (group II) (P < 0.0001) versus the BCCAL applied group (group III) and between group II and group III (P < 0.005). Conclusions: A meaningful and paradoxic correlation was detected between the BA VDI values and degenerated neuron density of SCG after BCCAL. Although a low degenerated neuron density within SCG may provoke excessive sympathetic activity and prevent excessive BA dilatation with steno-occlusive carotid artery diseases, a high degenerated neuron density may cause dangerous vasodilatation of BA

Gonadal agenezin nadir bir nedeni : tetrazomi -X sendromu

In order to support the production of goods with cultural representation of each area, this work is the results of a research on designations of origin, which are of great interest to the visitor as they combine the historical with gastronomy and landscapes and achieve offer attractions from different regions, besides that they can boost economic development and generate jobs. Mexico has 16 DO. One of these is amber, extracted from mines in the Simojovel de Allende area. The Industrial Property Law applies to amber as a semiprecious stone, which is of a plant nature, as well as to other articles obtained from it, such as jewelry, pieces of art and religious objects. The geographical area covered by the DO includes the state of Chiapas in its entirety. The objective was to analyze some aspects of the "Amber of Chiapas", in order to promote a tourism marketing strategy that could be successful in disseminating information about the work of Chiapas artisans. A documentary research was made with a qualitative approach, secondary sources were consulted. Conclusions Lack of knowledge of the route. There is little diffusion on the part of the responsible organisms and the satisfaction of the tourists and their willingness to return is not published to attract national and international visitors.Con la finalidad de apoyar la producción de bienes con representación cultural de cada zona, el presente trabajo son los resultados de una investigación sobre las denominaciones de origen, que son de gran interés para el visitante ya que combinan lo histórico con gastronomía y paisajes y logran ofrecer atractivos de diversas regiones, además de que pueden impulsar el desarrollo económico y generar empleos. México cuenta con 16 DO. Una de éstas es el ámbar, extraído de las minas de la zona de Simojo v el de Allende.La Ley de la Propiedad Industrial se aplica al ámbar como piedra semipreciosa, que es de naturaleza vegetal, así como también a otros artículos obtenidos de ésta como son alhajas, piezas de arte y objetos religiosos. La zona geográfica que abarca la DO comprende en su totalidad al estado de Chiapas. El objetivo fue analizar algunos aspectos del “Ámbar de Chiapas”, con el fin de impulsar una estrategia de mercadotecnia turística que podría tener éxito al difundir información sobre el trabajo de los artesanos chiapanecos. Se hizo una investigación documental con un enfoque cualitativo, se consultaron fuentes secundarias. Conclusiones. Falta de conocimiento de la ruta. Es escasa la difusión por parte de los organismos responsables y la satisfacción de los turistas y su disposición para regresar no es publicada para atraer visitantes nacionales e internacionales

Evaluation of suicide probability in children and adolescents with epilepsy

Background We aimed to examine suicide probability, factors affecting suicide, and personality traits of children and adolescents diagnosed with epilepsy, and to compare their results with those of children without epilepsy. Methods Fifty-six children diagnosed with epilepsy and 56 control children, aged 11-16 years, were evaluated by using the Diagnostic and Statistical Manual of Mental Disorders diagnostic criteria, the Kiddie Schedule for Affective Disorders and Schizophrenia Present and Lifetime Version, the Child Depression Inventory, the Suicide Probability Scale (SPS), and the Personality Inventory for DSM-5 - Brief Form - Children (PID-5-BF) scales. Factors predicting suicide risk in children with epilepsy were analyzed. Results The mean age, SPS total score, and hopelessness subscale score, PID-5-BF total score as well as disinhibition and psychoticism subscale scores of the epilepsy group were significantly higher than those of the control group (P < 0.05). There was no significant difference between the groups in terms of the Child Depression Inventory, and other subscales of the Suicide Probability Scales and PID-5-BF scales. The SPS total score was higher in patients with comorbid psychiatric diseases, those using psychiatric drugs, and girls (P < 0.05). An ANCOVA analysis indicated that the most important factor that predicted the probability of suicide and its subscale scores was the level of depression, and the presence of epilepsy was not predictive. Conclusions We found a high probability of suicide and personality pathology in children with epilepsy but the main predictor of suicide probability was the level of depression, not the presence of epilepsy

Effects of sulthiame on seizure frequency and EEG in children with electrical status epilepticus during slow sleep

Objective: It is argued that early and adequate treatment of electrical status epilepticus in sleep (ESES) is essential to preserve cognitive functions and possibly recovering lost skills. Although antiepileptic drugs (AEDs) are effective in ESES, there is not much experience in the use of sulthiame. In this study, we aimed to examine the efficiency and tolerability of sulthiame in ESES. Methods: The data of 39 patients diagnosed as ESES and who received sulthiame as an additional treatment between 2016 and 2020 were reviewed retrospectively. Electroencephalographic (EEG) findings and seizure rates were compared before and after the sulthiame treatment. Results: The mean age was 8.5 ± 4.1 (1.5–16 years). Nine out of 39 patients had benign childhood focal epilepsies. Structural causes were identified in 13 patients. The mean duration of sulthiame use was 32.5 ± 13.7 months. After sulthiame treatment, 25 patients (64.1%) were seizure free, and 8 (20.5%) had more than a 50% decrease in seizure frequency. The mean seizure-free time after the sulthiame treatment was 27.8 ± 17.9 months. Nineteen patients (48.7%) had complete, and nine patients (23.1%) had partial EEG improvement. Complete seizure control was significantly higher in benign focal epilepsy of childhood (p = 0.01). Significant neurocognitive and behavioral recovery, improvement in school performance was observed following sulthiame treatment (p < 0.001). Conclusion: Sulthiame was found to be effective in seizure control and EEG improvement in ESES. We think that the use of sulthiame alone can be a good choice with high efficacy and tolerability in ESES