Proinflammatory Cytokines and Leptin Are Increased in Serum of Prepubertal Obese Children

It has not yet been shown in prepubertal children how cytokines, leptin, and body mass, as well as parameters of obesity are interrelated. The aim of this study was to explore the relation between circulating levels of some cytokines with leptin and body mass index. A case control study was carried out in obese children of both sexes. An obese group was carried out with 63 school prepubertal children and a control group comprised the same number of nonobese children paired by age and by sex. Mean serum leptin concentration was significantly higher in the obese children at 19.9 ± 7.4 ng/mL, than the control group (7.9 ± 5.1 ng/mL). Serum IL-1β, IL-6, and TNF-α levels were also significantly higher in the obese group than controls (33.0 ± 8.9, 45.2 ± 11.8, and 9.2 ± 2.3 pg/mL, versus 3.6 ± 1.0, 13.1 ± 3.9, and 3.9 ± 1.0 pg/mL, resp). In controversy, serum IL-2 level was diminished in the obese group as 0.4 ± 0.1 versus 0.9 ± 0.1 U/L. Obesity may be a low-grade systemic inflammatory disease. Obese prepubertal children have elevated serum levels of IL-1β, IL-6, and TNF-α which are known as markers of inflammation

COL4A1-related autosomal recessive encephalopathy in 2 Turkish children.

OBJECTIVE: This study presents the neurologic phenotypes of 2 brothers with a novel homozygous COL4A1 mutation that was identified in a large Turkish consanguineous cohort of neurogenetic diseases. METHODS: Whole-exome sequencing and bioinformatic analysis of consanguineous families with children affected by early-onset, neurogenetic disorders was performed using the RD-Connect Genome-Phenome Analysis Platform. We also performed clinical, EEG, and neuroimaging analyses in unaffected siblings and parents. RESULTS: We have identified a homozygous missense mutation in COL4A1 (p.Gly1278Ser, NM_001845.5:c.3832G>T) in 2 siblings affected by small vessel brain disease with periventricular leukoencephalopathy and ocular defects. Presenting symptoms included mild weakness, hemiparetic gait, pyramidal findings, and seizures, whereas their intellectual and behavioral functions were normal. Both parents and 5 of the siblings (3 boys and 2 girls) were heterozygous for the variant. They did not show any clinical or laboratory signs of small vessel disease. CONCLUSIONS: COL4A1 has previously been associated with dominant small vessel disease of the brain and other organs, manifesting with high penetrance in heterozygous mutation carriers. Our findings provide evidence that COL4A1-related encephalopathy can be inherited in an autosomal recessive manner, which is important for counseling, prognosis, and treatment. Genotype-phenotype correlations remain to be established

Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease.

Microtubules help building the cytoskeleton of neurons and other cells. Several components of the gamma-tubulin (γ-tubulin) complex have been previously reported in human neurodevelopmental diseases. We describe two siblings from a consanguineous Turkish family with dysmorphic features, developmental delay, brain malformation, and epilepsy carrying a homozygous mutation (p.Glu311Lys) in TUBGCP2 encoding the γ-tubulin complex 2 (GCP2) protein. This variant is predicted to disrupt the electrostatic interaction of GCP2 with GCP3. In primary fibroblasts carrying the variant, we observed a faint delocalization of γ-tubulin during the cell cycle but normal GCP2 protein levels. Through mass spectrometry, we observed dysregulation of multiple proteins involved in the assembly and organization of the cytoskeleton and the extracellular matrix, controlling cellular adhesion and of proteins crucial for neuronal homeostasis including axon guidance. In summary, our functional and proteomic studies link TUBGCP2 and the γ-tubulin complex to the development of the central nervous system in humans

Magnetic Resonance Imaging Findings of Pediatric Neurobrucellosis

Brucellosis is an endemic disease often observed in the Mediterranean and Middle East regions. Systemic brucellosis is the most frequent clinical form of this infection; however, hematogenic spread may result in the focal form of the disease. Neurobrucellosis is a rare disease seen in 0, 5-25 % of the adults with systemic brucellosis. 0,8 % of the children affected by systemic brucellosis are reported to have neurological complications. A 16 year old female applied with the complaints of headache, vomiting, bilateral hip and knee pain, and inability to walk. Physical and laboratory examination, brain computed tomography (CT) brain and cervical spinal MRI were carried out as well as the magnetic resonance spectroscopy (MRS) of the lesion areas in the brain. On MRI hydrocephaly in 3rd, 4th and lateral ventricles, atrophic dilatation in bilateral hemispheric cortical sulcuses were seen. On T2W and FLAIR images, hyperintense focal nodular lesions not accompanied by pathological contrast enhancement were detected on parietal subcortical white matter and the periventricular deep white matter. Dural thickening and contrast enhancement on the bilateral parietal region were observed. On cervical spinal MRI, leptomeningeal enhancing was at the level of C1-C7. On MRS applied to lesions in brain (TE 136 and 31 ms), lactate peak at 1.3 ppm was observed. In the differential diagnosis of central nervous system diseases in children living in endemic regions, neurobrucellosis should be kept in mind, though observed rarely. In these cases, the neurological system involvement that cannot be demonstrated via CT, can be shown with MRI effectively. [Med-Science 2014; 3(4.000): 1732-42

Evaluation of renal tubular function in epileptic children treated with levetiracetam

Our study aim was to measure the urinary N-acetyl-β-D-glucosaminidase/creatinine (NAG/UCr) index in epileptic children who received levetiracetam (LEV) treatment at least for 6 months, and compare it to healthy children. Thirty five children with epilepsy were enrolled in this prospective study. NAG was studied using the calorimetric method and NAG levels were expressed in units per liter (U/L) and NAG/UCre levels were determined in U/mmol creatinine. There were no statistically significant differences for the urine NAG and NAG/UCr index before and after LEV treatment in the epileptic group (p>0.05, for each). There were no significant correlations between the serum concentration of LEV and urinary NAG levels (r=0.258, p=0.135) and NAG/UCr levels (r=0.164, p=0.346) before treatment. Our study demonstrated that LEV treatment was safe and did not interfere in renal tubular function in epileptic children. [Med-Science 2016; 5(3.000): 771-5

Neuromyelitis optica spectrum disorder: a pediatric case report

Neuromyelitis optica spectrum disorder(NMOSD) is an autoimmune demyelinating disorder of the central nervous system that predominantly affects the optic nerves and the spinal cord. Magnetic resonance imaging (MRI) has increasingly important role in differentiating NMOSD from other inflammatory disorders of the central nervous system, particularly multiple sclerosis (MS). Specific antibodies against aquaporin-4(AQP4) were identified and found to be directly responsible for the pathogenesis of the disease. We report on an AQP4 antibody-positive 12-year-old female with radiological findings in her brain MRI. [Med-Science 2017; 6(3.000): 562-6