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Beata Galińska-Skok,1 Agata Szulc,2 Aleksandra Małus,1 Beata Konarzewska,1 Urszula Cwalina,3 Eugeniusz Tarasów,4 Napoleon Waszkiewicz1 1Department of Psychiatry, Medical University of Białystok, Choroszcz, Poland; 2Department of Psychiatry, Faculty of Health Sciences, Medical University of Warsaw, Pruszków, Poland; 3Department of Statistics and Medical Informatics, Medical University of Białystok, Białystok, Poland; 4Department of Radiology, Medical University of Białystok, Białystok, Poland Purpose: Investigation of the longitudinal effect of schizophrenia on changes in various brain-metabolite levels and their relationships with cognitive deficits that have not been fully explained yet.Methods: Five years subsequent to their first examination for their first episode of schizophrenia, eleven patients from an original group of 30 were reexamined. Their cognitive functions were assessed with the Wisconsin Card Sorting Test. Magnetic resonance imaging and proton magnetic resonance spectroscopy were performed on a 1.5 T scanner. Voxels of 8 cm3 were positioned in the left frontal lobe, left temporal lobe, and the left thalamus. The study had a naturalistic design, and patients were treated with various antipsychotics.Results: No significant statistical differences between the baseline and follow-up in N-acetylaspartate (NAA:creatine plus phosphocreatine [Cr] and NAA/H2O) levels were observed in any region of interest. We found a significant statistical correlation between 5-year difference in frontal NAA/Cr levels and duration of the last antipsychotic treatment in this period (R=0.908, P=0.012). We found a trend (P=0.068) toward lower choline-containing compounds (Cho/Cr ratio) in the temporal lobe over 5 years and a trend (P=0.079) in higher glutamate–glutamine–GABA (Glx/H2O) levels in the left thalamus. The patients showed social and clinical improvement at follow-up examination, and there were no changes in Wisconsin Card Sorting Test results.Conclusion: The observed tendency toward decline in choline ratio might have been due to decreased temporal cell density or impaired neuron-membrane or myelin functions. A tendency for higher Glx levels suggest the involvement of thalamus dysfunction in the chronic schizophrenia process. The lack of NAA decrease might have been due to effective antipsychotic treatment. Further longitudinal studies on large patient groups are required to confirm these metabolic changes in schizophrenia. Keywords: first-episode schizophrenia, proton magnetic resonance spectroscopy, longitudinal study, cognitive functioning, N-acetylaspartate, choline

Purpose : To evaluate proton magnetic resonance spectroscopy ( 1 H MRS) features in order to assess hepatocellular activation in chronic hepatitis C and human immunodeficiency virus/hepatitis C (HIV/HCV) co-infected patients. Material and Methods : Liver in vivo 1 H MR spectra were obtained in 14 patients with hepatitis C virus infection (HCV), 20 HIV/HCV co-infected individuals, and 24 healthy volunteers. Resonances of lipids, glutamine/glutamate (Glx), phosphomonoesters (PME), glycogen/glucose (Glc) were assessed and metabolite ratios to total lipids (TL) were calculated. Results : A significant increase in Glx/TL and PME/TL was observed in the HCV group as compared to healthy individuals. Patients with HIV and HCV co-infection had a further increase of all metabolite ratios. Changes in metabolite ratios were due to both the increase in particular metabolite contents and to the decrease in lipid levels. HIV/HCV-infected patients treated with highly active anti-retroviral therapy (HAART) showed elevated PME and Glx levels and significantly decreased TL compared to patients not undergoing anti-retroviral treatment. Conclusions : Our findings suggest clinical usefulness of liver 1 H MR spectroscopy in detecting even slight disturbances in liver metabolism. [ABSTRACT FROM AUTHOR]

Objectives: It has been suggested that circulating fatty acids (FAs) take part in the pathogenesis of nonalcoholic fatty liver disease (NAFLD) in children with obesity. The aims of this study were to evaluate the serum FA concentration in this pediatric population., Methods: The prospective study included 80 children with obesity and suspected liver disease. Patients with viral hepatitis, autoimmune, toxic, and selected metabolic liver diseases were excluded. Criteria for NAFLD diagnosis included liver steatosis in ultrasound as well as elevated alanine transaminase (ALT) serum activity. The total intrahepatic lipid content (TILC) was assessed by magnetic resonance proton spectroscopy (1H-MRS). Fasting serum FA concentrations were measured in all children using gas-liquid chromatography., Results: NAFLD was diagnosed in 31 children. Total FA concentration was significantly higher (P < 0.01) in all obese children as well as in obese children with NAFLD compared with controls. In children with NAFLD, a significant, positive correlation was found between total FA concentration and cholesterol (R = 0.47, P < 0.01), triacylglycerols (R = 0.78, P < 0.001), and insulin (R = 0.45, P < 0.011). In a group of children with obesity, TILC correlated positively with saturated FA concentration (R = 0.23, P < 0.05)., Conclusion: Data from the present study do support the hypothesis that FAs are potentially involved in the pathogenesis of NAFLD in children with obesity., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL), defined primarily by developmental delay/intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features, is a syndrome resulting from heterozygous variants in the dosage-sensitive bromodomain PHD finger chromatin remodeler transcription factor BPTF gene. To date, only 11 individuals with NEDDFL due to de novo BPTF variants have been described. To expand the NEDDFL phenotypic spectrum, we describe the clinical features in 25 novel individuals with 20 distinct, clinically relevant variants in BPTF, including four individuals with inherited changes in BPTF. In addition to the previously described features, individuals in this cohort exhibited mild brain abnormalities, seizures, scoliosis, and a variety of ophthalmologic complications. These results further support the broad and multi-faceted complications due to haploinsufficiency of BPTF., (© 2021 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)