Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.

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.

Nocardia farcinica as a cause of chronic meningitis - case report.

BACKGROUND: Nocardiosis is an uncommon disease caused by aerobic gram-positive bacteria Nocardia spp. Although it is usually an opportunistic infection affecting immunocompromised patients, even one third of cases occur in immunocompetent persons. The aim of the study was to describe the course of chronic meningitis due to Nocardia infection. CASE PRESENTATION: A 52-year-old patient, chalk miner, suffered from a chronic meningitis caused by an extremely rare pathogen. The patient's history was complicated and diagnostic process covered multiple examinations and consultations. Initially Kocuria rosea was cultured, yet after molecular examination the result was verified to Nocardia farcinica. Targeted antibiotic treatment was implemented, which resulted in gradual improvement of patients condition. A full recovery was achieved after one year antibiotic therapy. CONCLUSIONS: 1.Nocardia farcinica is an uncommon but possible cause of chronic meningitis.2.In the case of a chronic meningitis of unknown origin multiple cerebrospinal fluid cultures should be performed as the identification of pathogen may be crucial for patient's recovery.3.In case of unusual culture, such as Kocuria spp. PCR should be performed.

A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation.

We present a natural history of a 32-year-old man with Hajdu-Cheney syndrome (HJCYS), because of the de novo truncating mutation in the exon 34 of NOTCH2 (c.6424-6427delTCTG, p.Ser2142ArgfsX4), who has been followed up for a period of 23 years (between 9 and 32 years). During follow-up, we observed abnormalities of vision, hearing, voice, and progression of craniofacial features in the form of skeletal dysplasia with affected skull, dentition, spine, limbs, fingers, and toes. Low bone mineral density and history of fragility fractures also suggested primary osteoporosis being a clinical manifestation. According to Stengel-Rutkowski, Schimanek, and Wernheimer (1984; Human Genetics, 6, 272-295), systematic data acquisition has been used for quantitative analysis of anthropological, radiographic, and clinical features at childhood, adolescence, and young adulthood separately. A detailed phenotype description together with the results of reanalysis of 14 reports so far published on patients with HJCYS and NOTCH2 mutation showed similar phenotype evolution with age. The spectrum of observed features may improve diagnostic tools for HJCYS at different periods of the lifespan.

Increased serum concentration of ceramides in obese children with nonalcoholic fatty liver disease.

BACKGROUND: Hepatic lipid accumulation is closely related to the development of insulin resistance, which is regarded as one of the most significant risk factors of nonalcoholic fatty liver disease (NAFLD). Although the exact molecular pathway leading to impaired insulin signaling has not been definitively established, ceramides are suspected mediators of lipid induced hepatic insulin resistance. Therefore, the aim of the study was to evaluate the serum ceramides concentration in obese children with NAFLD. METHODS: The prospective study included 80 obese children (aged 7-17 years, median 12 years) admitted to our Department to diagnose initially suspected liver disease. Patients with viral hepatitis (HCV, HBV, CMV), autoimmune (AIH), toxic and metabolic (Wilson's disease, alfa-1-antitrypsin deficiency) liver diseases and celiac disease were excluded. NAFLD was diagnosed based on pediatric diagnostic criteria in obese children with liver steatosis in ultrasound (US) as well as elevated alanine transaminase (ALT) serum activity after exclusion of other major liver diseases listed before. Ultrasonography was used as a screening method and for qualitative assessment of the steatosis degree (graded according to Saverymuttu scale). Advanced steatosis was defined as a score > 1. The total intrahepatic lipid content (TILC) was assessed by magnetic resonance proton spectroscopy (1HMRS) which is the most accurate technique for assessment of ectopic fat accumulation. Fasting serum concentration of ceramides was measured in 62 children. RESULTS: NAFLD was diagnosed in 31 children. Significant, positive correlation was found between total serum concentration of ceramides and insulin (r = 0.3, p = 0.02) and HOMA-IR (r = 0.28, p = 0.03). Total ceramide concentration as well as specific fatty acid-ceramides (FA-ceramides) concentrations, namely: myristic, palmitic, palmitoleic, stearic, oleic, behenic and lignoceric were significantly higher (p = 0.004, p = 0.003, p = 0.007, p < 0.001, p = 0.035, p = 0.008, p = 0.003, p = 0.006, respectively) in children with NAFLD compared to controls (n = 14). Moreover, children with NAFLD had significantly higher activity of ALT (p < 0.001) and GGT (p < 0.001), HOMA-IR (p = 0.04), BMI (p = 0.046), waist circumference (p = 0.01) steatosis grade in ultrasound (p < 0.001) and TILC in 1HMRS (p < 0.001) compared to children without NAFLD. We did not find significant differences in total and FA-ceramide species concentrations between children with mild (grade 1) and advanced liver steatosis in ultrasonography (grade 2-3). CONCLUSION: Elevated ceramide concentrations in obese patients together with their significant correlation with insulin resistance parameters suggest their association with molecular pathways involved in insulin signaling impairment known to be strongly linked to pathogenesis of non-alcoholic fatty liver disease.

[Phonosurgery treatment options in male to female and female to male transsexuals.] / Fonochirurgiczne metody leczenia glosu u pacjentów transseksualnych.

The voice is an important part of human identity. The voice is susceptible to impact of hormons mainly sexual hormons. The larynx is one of secondary sex characacteristics. Disorders of voice pose serious obstacle to full social integration in male to female and female to male transsexuals. The causes of transsexuality are still a matter of considerable debate. Now it is considered that, big nucleus suprachiasmaticus in the hypothalamus may be a cause of transsexuality. The aim of phonosurgery in transsexual patients is to gain acceptable voice by the patients. Proper preoperative assessment by the use of HRCT 3D imaging of the larynx and phoniatric counseling yields realistic postoperative results and verify patients expectations.

Relapsing-Remitting Severe Bickerstaff's Brainstem Encephalitis - Case Report and Literature Review.

BACKGROUND: Bickerstaff's brainstem encephalitis (BBE) is a very rare disease of the central nervous system. Aetiology of the disease is auto-immunological. However, it is not entirely understood. Clinically BBE manifests in progressive ophthalmoplegia, ataxia and consciousness disturbances. Clinical symptoms are usually preceded by an unidentified infection of the upper respiratory tract. Usually, the disease has one phase, but individual relapses have also been described. Despite quite severe clinical symptoms, the prognosis is usually good. CASE REPORT: The article presents a case of a patient with relapsing-remitting severe BBE. The case is presented due to the relapsing-remitting clinical course of the disease that resulted in patient's death, rarely described in the literature. We also present the results of subsequent MR scans in the course of the disease, so far described only in individual reports. It is also the first report in the world's literature presenting the results of series of MR spectroscopy (MRS) examinations in the course of BBE. CONCLUSIONS: MR examination is an important component in BBE diagnostics, allowing to differentiate atypical cases and place them under special supervision due to the possibility of the severe clinical course. MR also facilitates differentiation between Miller-Fisher Syndrome (MFS) and BBE in cases of diagnostic doubts. Adding MRS and MRI to the protocol allows us to define the nature of morphological changes more accurately in patients with suspected or diagnosed BBE.

Case report: First manifestation of multiple sclerosis temporally correlated with COVID-19 vaccination.

There are several case reports describing a temporal correlation between the first clinical manifestation of multiple sclerosis (MS) and the occurrence of relapses with vaccination against SARS-CoV-2. Here we report a case of a 33-year-old male who developed partial right upper and lower extremities numbness 2 weeks after receiving Johnson & Johnson's Janssen COVID-19 vaccine. The brain MRI performed during diagnostics in the Department of Neurology detected several demyelinating lesions, one with enhancement. Oligoclonal bands were present in the cerebrospinal fluid. The patient was treated with high-dose glucocorticoid therapy with improvement and the diagnosis of MS was made. It seems plausible that the vaccination revealed the underlying autoimmune condition. Cases like the one we reported here are rare, and-based on current knowledge-the benefits of vaccination against SARS-CoV-2 far outweigh the potential risks.

Clinical and cognitive correlates of the proton magnetic resonance spectroscopy measures in chronic schizophrenia.

BACKGROUND: Proton magnetic resonance spectroscopy (1H MRS) allows for examining brain functions in vivo in schizophrenic patients. Correlations between N-acetylaspartate (NAA) level in the frontal lobe and cognitive functions and clinical symptoms have been observed. The aim of the present study was evaluation of relationship between clinical symptoms, cognitive outcomes and brain function in 1H MRS measures in schizophrenic patients. MATERIAL/METHODS: The study included a group of 47 patients with chronic schizophrenia. Patients were assessed by means of PANSS, CGI, and a battery of cognitive tests: WCST, TMT, and verbal fluency test. MRI and MRS procedures were performed. Regions of interest were located in the left frontal lobe, temporal lobe and thalamus. Metabolite (NAA, choline, myoinositol and Glx complex) ratios to creatine were calculated. RESULTS: We observed a significant negative correlation between myoinositol level in the frontal lobe and WSCT test performance. These data were confirmed by further analysis, which showed a significant correlation between WCST outcome, negative symptoms score, education level and myoinositol ratio in the frontal lobe. When analyzing negative symptoms as independent variables, the analysis of regression revealed a significant relationship between negative symptoms score and verbal fluency score, together with choline level in the thalamus. CONCLUSIONS: The above data seem to confirm a significant role of the thalamus--a "transmission station" involved in connections with the prefrontal cortex--for psychopathology development (especially negative) in schizophrenia. Moreover, our results suggest that a neurodegenerative process may be involved in schizophrenia pathogenesis.

Serum concentration of fatty acids in children with obesity and nonalcoholic fatty liver disease.

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.

Fahr syndrome - an incidental finding in a patient with lymphocytic meningitis.

Fahr syndrome is a rare condition mainly characterized by symmetric and bilateral calcification of basal ganglia and cerebellar nuclei. Herein, we report a case of a 67-year-old woman with a history of parathyroidectomy and Parkinsonism, who was admitted to hospital with suspected neuroinfection, and imaging features that were consistent with Fahr syndrome. The objective of this study is to teach clinicians about a neurologic illness that requires comprehensive medical and neurologic investigation due to the manifestations of lymphocytic meningitis might distract you from Fahr syndrome symptoms.

Deep learning-based method for the continuous detection of heart rate in signals from a multi-fiber Bragg grating sensor compatible with magnetic resonance imaging.

A method for the continuous detection of heart rate (HR) in signals acquired from patients using a sensor mat comprising a nine-element array of fiber Bragg gratings during routine magnetic resonance imaging (MRI) procedures is proposed. The method is based on a deep learning neural network model, which learned from signals acquired from 153 MRI patients. In addition, signals from 343 MRI patients were used for result verification. The proposed method provides automatic continuous extraction of HR with the root mean square error of 2.67 bpm, and the limits of agreement were -4.98-5.45 bpm relative to the reference HR.

[The influence of atypical antipsychotics on brain functioning in schizophrenia. A proton magnetic resonance study]. / Wplyw leków antypsychotycznych atypowych na funkcjonowanie mózgu w schizofrenii w obrazie spektroskopii protonowej rezonansu magnetycznego.

INTRODUCTION: The influence of antipsychotic medication on brain alterations in proton magnetic resonance spectroscopy (1H MRS) in schizophrenia can be the explanation of many discrepancies observed in the previous papers. AIM: The aim of this study was the evaluation of antipsychotic medication effect on the metabolite levels in the brain of schizophrenic patients based on 1H MRS examination. METHODS: The group of 32 patients with a diagnosis of schizophrenia according to DSM-IV and 26 healthy controls were included into the study. The patients were examined twice--once after the period of at least 7 days without neuroleptics (baseline) and for the second time at least 4 weeks after stable doses ofneuroleptics (follow-up). 21 patients were receiving risperidone and 11--olanzapine. Proton resonance spectroscopy was performed on a 1.5 MR scanner. Each volume element (voxel) was localised in the left frontal lobe, in the left temporal lobe and in the left thalamus. Metabolite ratios: N-acetylaspartate (NAA) to creatine (Cr) and unsupressed water signal were analysed. Results. We found the significant increase of the NAA/Cr level in the thalamus in the group of patients treated with risperidone, we didn't observe similar changes in the olanzapine group. CONCLUSIONS: Our results confirm that the neuroleptic drugs, especially atypicals, modify brain metabolism measured by 1H MRS. The pattern of the changes suggest a possible neuroprotective influence of the antipsychototic treatment in schizophrenic patients. The small group of the olanzapine treated patients doses not allow to make any conclusions regarding this type of medication.

Carotid Body Tumor - radiological imaging and genetic assessment.

Carotid Body Tumor i.e. Paraganglioma is a challenging entity from the point of multidisciplinary diagnosis. The main treatment option i.e. surgery yields intraoperative risk,related to cranial nerve palsy and vascular morbidity.Bifurcation of Common Carotid Artery especially at the Carotid Body is the place where Head and Neck Paraganglioma is most frequently seen i.e. 60% of incidence [19]. Indeed, the knowledge of genetic germline SDH mutations, which cause deregulation of hypoxia-induced factors yields better understanding of the tumor nature. It is recommended to conduct selective neck dissection in regions IIA, IIB, III to exlude malignant transformation and metastasis, due to malignant potential of Carotid Body Tumors, especially in case of SDHB mutation. SDHD mutation is the main cause of hereditary HNPGLs. Computed tomography (CT), magnetic resonance imaging (MRI) and angiography yield thorough assessment of paraganglioma extension. In large size tumors, embolization of supplying artery under guidance of angiography may be considered. In case of Carotid Body Tumor, differential diagnosis should include: carotid artery aneurysm, lymphadenopathy, Schwannoma of the hypoglossal nerve or acessory thyroid gland.

Estimation of the ethmoid roof depth and length of lateral lamella of the cribriform plate, upper attachment of the uncinate process and anterior ethmoid artery in multiplanar reconstructions of Computed Tomography.

The aim is to assess the relationship of Anterior Ethmoid Artery with the Upper Attachment of the Uncinate Process and their relation with the Lateral Lamella of the Cribriform Plate in multiplanar reconstructions (i.e. coronal, axial and sagittal) of Computed Tomography. We measured the depth of the olfactory fossa, the length of the LLCP and determined the most superior attachment of the uncinate process, which designates boundaries of the frontal recess anteriorly, laterally and medially [20,22]. METHODS: All CT examinations were performed using the 320-detector Aquilion ONE CT Scanner (Canon Medical Systems, Otawara, Japan). Axial, coronal,sagittal reconstructions were performed by using dedicated workstation software (Vitrea Enterprice Siute, Version 6.7; Vital Images, Minnetonka USA). The Statistica 13 software was used for the analysis, results were considered statistically significant at the level of p<0,05. RESULTS: The most frequent types of Uncinate Process according to Landsberg- Friedman criteria in group of mens are: type I-30,77%,type II-30,77%, type III-26,92%, type VI-7,69%, type V-3,85%, type IV-0% respectively. In women's group: type III-44,12%,type II-32,35%, type I-8,82%,type V-8,82%, type IV-5,88%, type VI-0%. The median LLCP length in the anterior-posterior dimension measures 13 mm i. e. Yenigun type II on the both sides. The median value of depth in the superior-inferior dimension of the LLCP in the ethmoid roof is 5 mm i.e. Keros type II on both sides. The mean distance between Anterior Ethmoid Artery and Upper Attachment of the Uncinate Process measures approximately 9,73 mm and 9,16 mm on the right and left side respectively. CONCLUSIONS: The assessment of the AEA, UAUP and configuration of the anterior skull base on CT multiplanar reconstructions contribute to optimazing the results of frontal sinus surgery.

Duration of untreated psychosis and proton magnetic resonance spectroscopy (1H-MRS) findings in first-episode schizophrenia.

BACKGROUND: The duration of untreated psychosis (DUP) is a factor associated with the natural course of schizophrenia and an independent predictor of treatment outcome. Recent studies focus on the effects of DUP on the functioning of the nervous system, but the findings are inconsistent. As proton magnetic resonance spectroscopy (1H-MRS) enables the assessment of signals from chemical compounds in vivo, it seems a useful tool to explore this problem. MATERIAL/METHODS: In this study the relationships between DUP and 1H-MRS measurements were investigated. Thirty patients with first-episode schizophrenia and 19 controls were examined. Median DUP was 10 weeks. Voxels were positioned in the following regions of interest: the left frontal lobe, left temporal lobe, and left thalamus. The ratios of N-acetylaspartate (NAA), choline-containing compounds (Cho), myoinositol (mI), and glutamate/glutamine/GABA complex (Glx) to creatine (Cr) and the non-suppressed water signal were determined. RESULTS: There were no significant differences between the whole group of patients and healthy subjects for the analyzed metabolite ratios in any region of interest. No differences were found between the groups of patients with short and long DUP and controls. No significant correlation was observed between DUP and metabolite ratios. CONCLUSIONS: The results of the study may suggest that the relatively short DUP does not influence brain metabolism in first-episode schizophrenia.

A comparison of cephalometric analysis using radiographs and craniofacial computed tomography in patients with obstructive sleep apnea syndrome: preliminary report.

The aim of this study was to describe the similarities and differences as well as the convenience in using of cephalometric radiographs and craniofacial computed tomography in obstructive sleep apnea syndrome (OSAS) patients and to demonstrate the relationship between the severity of sleep-disordered breathing and severity of cephalometric abnormalities. A total of 28 randomly selected patients with snoring, and varying degrees of sleep-disordered breathing were included in this study. A control group included 22 patients. These patients had no snoring or clinical evidence of sleep-disordered breathing as evaluated by polysomnographic test. No patients had prior pharyngeal or maxillomandibular surgery. All patients were evaluated by otolaryngological examination and had polysomnography, cephalometric radiographs and craniofacial CT scans. In study group the evaluation between cephalometric analysis on radiographs and CT scans was made. The comparison between the control and the study group was also assessed as far as cephalometric data are concerned. The cephalometric parameters revealed major differences between controls and patients with OSAS regarding the size and position of soft palate and uvula, volume and position of tongue, hyoid position, mandibulo-maxillary protrusion and size of the pharyngeal airway space. OSAS is associated with statistically significant changes in cephalometric measurements. Lateral cephalometric analysis and craniofacial CT scans add further information to the anatomical assessment of patients with OSAS. We found craniofacial CT scan measurements to be easier and more accurate especially when applying to soft tissues. We believe that this method may also be useful for patient classification to surgical procedures.

Preoperative assessment of the risk of cavernous ICA injury in endoscopic transsphenoidal surgery.

In endoscopic endonasal transsphenoidal procedures, ICA injury occurs in up to 3.8% [1]. The highest hazard of injury is in case of contact between the ICA and pituitary gland, during opening of the dura. Preoperative imaging, i.e. CTA, MRA, supports objectively intraoperative techniques of imaging. CTA as well as MRA are essential to access anatomic details in variability of cavernous segments of the ICA (C4 ICA). The aim of the study was to measure the space between Internal Carotid Arteries and distances between the pituitary gland and ICA on both sides. Anatomic relations between left and right ICAs were accessed on CTA (coronal scans) at levels: A - The most concave point of the C4-C5 bend; B - The most convex point of the C4 bend; C - The C4 posterior ascending portion. Distances between pituitary gland and ICAs were measured on both sides on MRA (axial scans): A' - The most concave point of C4-C5 bend; B' - The most convex point of the C4 bend. The Statistica 13 (StatSoft) software was used for the statistical analysis. The Mann-Whitney U test was applied to determine differences between the groups. To analyze the strength of correlations between the quantitative variables, Spearman's rank correlation coefficients were calculated. The results were considered statistically significant at the level of P < 0.05. Distance reduction was shown between pituitary glands and cavernous segment (C4) of ICAs on both sides, which is related to age. This has impact on surgical planning and highlights the risk of intraoperative injury of ICAs.

Can hepatokines be regarded as novel non-invasive serum biomarkers of intrahepatic lipid content in obese children?

PURPOSE: Hepatokines are proteins produced by the liver and involved in regulating glucose and lipid metabolism. However, their role as the biomarkers of intrahepatic lipid content is not clear. The aim of the study was to evaluate the serum concentration of selected hepatokines: fibroblast growth factor-21 (FGF-21), selenoprotein P (SELENOP) and sex hormone-binding globulin (SHBG) in obese children. PATIENTS AND METHODS: The cross-sectional study included 86 obese children with suspected liver disease. Nonalcoholic fatty liver disease (NAFLD) was diagnosed in children with liver steatosis in ultrasound with elevated alanine aminotransferase (ALT) serum activity and excluded other liver diseases. The total intrahepatic lipid content (TILC) was assessed by magnetic resonance proton spectroscopy (1H-MRS). RESULTS: The concentration of FGF-21 and SELENOP was significantly higher and SHBG significantly lower in children with NAFLD compared to controls. Only FGF-21 level was significantly higher in NAFLD children than in obese patients without NAFLD. The significant positive correlation of FGF-21 with ALT, gamma glutamyltransferase (GGT), triglycerides, homeostatic model assessment-insulin resistance (HOMA-IR), the degree of liver steatosis in ultrasound and TILC in 1H-MRS were found. The ability of serum FGF-21 to diagnose severe liver steatosis was significant. CONCLUSIONS: FGF-21 can be considered as a suitable biomarker in predicting TILC and fatty liver in obese children.

Proton magnetic resonance spectroscopy changes in a longitudinal schizophrenia study: a pilot study in eleven patients.

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.

Intralipid/Heparin Infusion Alters Brain Metabolites Assessed With 1H-MRS Spectroscopy in Young Healthy Men.

Context: We previously demonstrated that insulin infusion altered metabolite concentrations in cerebral tissues assessed with proton magnetic resonance spectroscopy (1H-MRS) in young subjects with high insulin sensitivity, but not in those with low insulin sensitivity. Fat overload is an important factor leading to insulin resistance. Objective: The purpose of the current study was to examine the effect of elevated circulating free fatty acid (FFA) levels on metabolites in cerebral tissues assessed with 1H-MRS. Design: The study group comprised 10 young, healthy male subjects. 1H-MRS was performed at baseline and after 4-hour Intralipid (Fresenius Kabi)/heparin or saline infusions administered in random order. Voxels were positioned in the left frontal lobe, left temporal lobe, and hippocampus. The ratios of N-acetylaspartate (NAA), choline (Cho)-containing compounds, myo-inositol (mI), and glutamate/glutamine/γ-aminobutyric acid complex (Glx) to creatine (Cr) and nonsuppressed water signal were determined. Results: Intralipid/heparin infusion resulted in a significant increase in circulating FFAs (P < 0.0001). Significant changes in brain neurometabolite concentrations in response to Intralipid/heparin infusion were increases in frontal mI/Cr (P = 0.041) and mI/H2O (P = 0.037), decreases in frontal and hippocampal Glx/Cr (P = 0.018 and P = 0.015, respectively) and Glx/H2O (P = 0.03 and P = 0.067, respectively), and a decrease in hippocampal NAA/Cr (P = 0.007) and NAA/H2O (P = 0.019). No changes in neurometabolites were observed during the saline infusion. Conclusions: Acute circulating FFA elevation influenced cerebral metabolites in healthy humans and lipid-induced insulin resistance could be partly responsible for these effects.