Adipokine profile in patients with anorexia nervosa

Wstęp: Anorexia nervosa (AN) jest zaburzeniem odżywania i charakteryzuje się skrajnie niską masą ciała. Adipokiny to substancje wydzielane przez tkankę tłuszczową o szerokim spektrum aktywności biologicznej. Celem pracy była ocena stężeń wybranych adipokin u kobiet z anorexia nervosa przed i po interwencji żywieniowej. Badano również czy wskaźnik masy ciała jest jedynym czynnikiem wpływającym na stężenia adipokin w AN. Materiał i metody: Udział w badaniu wzięło 65 kobiet: 20 pacjentek z AN przed jakąkolwiek terapią, 18 pacjentek z AN po interwencji żywieniowej trwającej co najmniej 6 miesięcy, 27 kobiet z grupy kontrolnej. U wszystkich uczestniczek przeprowadzono pobranie krwi i badania antropometryczne. Metodą ELISA oznaczano receptor leptynowy, adiponektynę i jej frakcje oraz rezystynę. Leptyna była badana metodą RIA a wisfatyna z użyciem techniki EIA. Wyniki: Stężenie leptyny oraz indeks wolnej leptyny były najniższe u pacjentek z AN przed leczeniem. Frakcja HMW adiponektyny oraz wisfatyna były podwyższone w przebiegu AN. Wartości pozostałych adipokin nie różniły się znacząco pomiędzy grupami. Porównując podgrupy z anorexia nervosa stwierdzono różnice jedynie w stężeniach leptyny i receptora leptynowego oraz indeksie wolnej leptyny. Dodatkowo po wyłączeniu wpływu BMI jedynie wartości leptyny i indeks wolnej leptyny pozostały znamiennie różne pomiędzy pacjentkami z AN przed leczeniem a grupą kontrolną. Wniosek: Wyniki naszego badania sugerują, że najważniejszą adipokiną w AN jest leptyna. W naszej grupie pacjentek z AN leptyna i indeks wolnej leptyny były jedynymi czynnikami, których zmiany nie są wyłącznie zależne od zmian ilości tkanki tłuszczowej.Introduction: Anorexia nervosa (AN) is an eating disorder characterised with extremely low weight. Adipokines are adipose tissue-derived substances that show a wide spectrum of biological activities. We aimed to assess selected adipokine levels in women with AN before and after nutritional intervention. We also sought to examine whether BMI is the only confounding factor influencing adipokine assessment in AN. Material and methods: Sixty-five women participated in the study: 20 individuals with AN before any treatment, 18 AN patients after nutritional intervention lasting for at least six months, and 27 women as controls. In all participants blood collection and anthropometric measurements were performed. ELISA was used for evaluation of leptin receptor, adiponectin and its isoforms, and resistin. Leptin was assessed with RIA, and visfatin was measured with EIA assay. Results: Leptin and free leptin index (FLI) were lowest in treatment–naïve AN women. HMW-adiponectin and visfatin were enhanced in AN. Other adipokine levels showed no significant differences. When two subsets of anorexia nervosa were compared, only leptin, leptin receptor, and FLI were markedly different. When data were adjusted to BMI, leptin and FLI remained significantly different in the pre-treated AN subgroup when compared with the control group. Conclusions: Our results suggest that leptin is the most important adipokine in AN. It is also important that in our AN population leptin and FLI are the only factors that are influenced not only by the fat content

Peripheral levels of selected adipokines in patients with newly diagnosed multiple sclerosis

Introduction: Multiple sclerosis (MS) is an autoimmune disease of the central nervous system. The exact aetiology is unknown. However, genetic and environmental factors are suggested to be involved in the pathogenesis of MS. Improper diet, resulting in obesity and metabolic syndrome, can contribute to this disease. Adipokines, secreted by adipose tissue, link the metabolism and immune system. Material and methods: We aimed to assess plasma levels of selected adipokines in newly diagnosed, treatment-naïve individuals with multiple sclerosis. Our group comprised 58 individuals (31 MS patients and 27 controls, matched for age and BMI) without diabetes, hypertension, or dyslipidaemia. Circulating adiponectin and all adiponectin fractions, visfatin, and omentin concentrations were measured. Metabolic parameters were also assessed. Results: In MS individuals we observed the following results: higher concentrations of visfatin, lower levels of omentin, and no differences in adiponectin array. There were also correlations between some adipokines and metabolic parameters. After adjustment to BMI, a significant decrease in total adiponectin, high-molecular weight (HMW) adiponectin and omentin, and an increase in medium-molecular-weight (MMW) adiponectin were observed in the group of MS patients when compared to those of the controls. Conclusions: Our results indicate that adiponectin with its fractions, visfatin, and omentin cannot be considered as causative factors in the early phase of multiple sclerosis. However, the potential role of adipokines in MS is possible because they might be involved in the pathogenesis of MS, regarded as an autoimmune disorder.

Osoczowe stężenia frakcji adiponektyny u kobiet z chorobą Alzheimera

ABSTRACT Introduction Alzheimer’s disease (AD) is a progressive and irreversible neurodegenerative disease. Typical features of AD include memory loss, social dysfunction and physical impairment. Although the pathological findings in the central nervous system are well established, the etiological factors are poorly known. Recent studies suggested the role of metabolic disturbances in the development of AD neurodegeneration. Adiponectin, an anti-inflammatory and metabolism regulating factor, was linked to AD. Aim The aim was to examine whether adiponectin fractions combined with insulin/insulin resistance-associated metabolic parameters correlate with AD progression. Material and methods The study comprised 98 women: 27 with moderate to severe AD, 31 with AD at early stage and 40 healthy controls, matched for age and BMI. To evaluate memory impairment, the MMSE was performed. Plasma total adiponectin and its high-, medium- and low molecular weights were measured with ELISA. Anthropometric, clinical and metabolic parameters were assessed. Correlations between adiponectin array and measured parameters were evaluated. Results In comparison to the controls, enhanced levels of total and medium molecular weight adiponectin characterized AD individuals. In AD, we found correlations between adiponectin array, and anthropometric and biochemical parameters. After adjustment to BMI, a significant increase of the total adiponectin and high- and medium molecular weight fractions was observed. A negative correlation between low molecular weight adiponectin and MMSE was found. Conclusions Our results indicate a possible link between adiponectin variations and AD. We hypothesize that changes in adiponectin profile observed in AD result from compensatory mechanism against neuropathological processes, as well as from adiponectin homeostasis impairment.Introduction: Alzheimer’s disease (AD) is a progressive and irreversible neurodegenerative disease. Typical features of AD include memory loss, social dysfunction, and physical impairment. Although the pathological findings in the central nervous system are well established, the aetiological factors are poorly known. Recent studies suggested the role of metabolic disturbances in the development of AD neuro­degeneration. Adiponectin, an anti-inflammatory and metabolism regulating factor, was linked to AD. The aim was to examine whether adiponectin fractions combined with insulin/insulin resistance-associated metabolic parameters cor­relate with AD progression. Material and methods: The study comprised 98 women: 27 with moderate to severe AD, 31 with AD at early stage, and 40 healthy con­trols, matched for age and BMI. To evaluate memory impairment, the Mini-Mental State Examination (MMSE) was performed. Plasma total adiponectin and its high, medium, and low molecular weights were measured with ELISA. Anthropometric, clinical, and metabolic parameters were assessed. Correlations between adiponectin array and measured parameters were evaluated. Results: In comparison to the controls, enhanced levels of total and medium molecular weight adiponectin characterised AD individu­als. In AD, we found correlations between adiponectin array, and anthropometric and biochemical parameters. After adjustment to BMI, a significant increase of the total adiponectin and high and medium molecular weight fractions was observed. A negative correlation between low molecular weight adiponectin and MMSE was found. Conclusions: Our results indicate a possible link between adiponectin variations and AD. We hypothesise that changes in adiponectin profile observed in AD result from compensatory mechanisms against neuropathological processes, as well as from adiponectin homeo­stasis impairment

Cardiovascular anomalies among 1005 fetuses referred to invasive prenatal testing - a comprehensive cohort study of associated chromosomal aberrations

This retrospective cohort study comprehensively evaluates cardiovascular anomalies (CVAs) and associated extracardiac structural malformations (ECMs) among 1005 fetuses undergoing invasive prenatal testing at a single tertiary Polish center in the context of chromosomal aberrations detected in them by array comparative genomic hybridization (aCGH) and G-band karyotyping. The results of our study show that CVAs are among the most common malformations detected in fetuses undergoing invasive prenatal testing, as they affected 20% of all cases seen in our department. Septal defects predominated among fetuses with numerical aberrations, while conotruncal defects were the most common findings among fetuses with pathogenic copy number variants (CNVs). In 61% of cases, CVAs were associated with ECMs (the diagnosis was confirmed postnatally or in cases of pregnancy termination by means of autopsy). The most common ECMs were anomalies of the face and neck, followed by skeletal defects. In total, pathogenic chromosomal aberrations were found in 47.5% of CVAs cases, including 38.6% with numerical chromosomal aberrations. Pathogenic CNVs accounted for 14.5% of cases with CVAs and normal karyotype. Thus, our study highlights the importance of assessing the anatomy of the fetus, and of the genetic testing (preferably aCGH) that should be offered in all CVA and ECM cases

Development and maturation of the immune system in preterm neonates : results from a whole genome expression study

To expand the knowledge about the consecutive expression of genes involved in the immune system development in preterm neonates and to verify if the environment changes the gene expression after birth we conducted a prospective study that included three cohorts: (A) extremely (gestational age (GA): 23–26 weeks; n=41), (B) very (GA: 27–29 weeks; n=39), and (C) moderately preterm infants (GA: 30–32 weeks; n=33). Blood samples were drawn from the study participants on the 5th and 28th day of life (DOL). The mRNA samples were evaluated for gene expression with the use of GeneChip Human Gene 1.0ST microarrays. Differential expression analysis revealed small subsets of genes that presented positive or negative monotone trends in both the 5th (138 genes) and 28th DOL (308 genes) in the three subgroups of patients. Based on pathway enrichment analysis, we found that most of the pathways that revealed a positive monotone trend were involved in host immunity. The most significantly GA dependent pathways were T-cell receptor signaling pathway and intestinal immune network for IgA production. Overall 4431 genes were differentially expressed between the 5th and 28th DOL. Despite differences in gestational age, patients with the same postconceptional age have a very similar expression of genes

Array Comparative Genomic Hybridization (aCGH) results among patients referred to invasive prenatal testing after first-trimester screening : a comprehensive cohort study

Invasive prenatal testing with chromosomal microarray analysis after first-trimester screening is a relevant option but there is still debate regarding the indications. Therefore, we evaluated the prevalence of numerical chromosomal aberrations detected by classic karyotype and clinically relevant copy number variants (CNVs) in prenatal samples using array comparative genomic hybridization (aCGH) stratified to NT thickness: 4.5 mm, and by the presence/absence of associated structural anomalies detected by ultrasonography. Materials and Methods: Retrospective cohort study carried out at two tertiary Polish centers for prenatal diagnosis (national healthcare system) in central and south regions from January 2018 to December 2021. A total of 1746 prenatal samples were received. Indications for invasive prenatal testing included high risk of Down syndrome in the first-trimester combined test (n = 1484) and advanced maternal age (n = 69), and, in 193 cases, other reasons, such as parental request, family history of congenital defects, and genetic mutation carrier, were given. DNA was extracted directly from amniotic fluid (n = 1582) cells and chorionic villus samples (n = 164), and examined with classic karyotype and aCGH. Results: Of the entire cohort of 1746 fetuses, classical karyotype revealed numerical chromosomal aberrations in 334 fetuses (19.1%), and aCGH detected CNV in 5% (n = 87). The frequency of numerical chromosomal aberrations increased with NT thickness from 5.9% for fetuses with NT 4.5 mm. The highest rate of numerical aberrations was observed in fetuses with NT > 4.5 mm having at least one structural anomaly (50.2%). CNVs stratified by NT thickness were detected in 2.9%, 2.9%, 3.5%, 4.3%, 12.2%, and 9.0% of fetuses with NT 4.5 mm, respectively. After exclusion of fetuses with structural anomalies and numerical aberrations, aCGH revealed CNVs in 2.0% of fetuses with NT 4.5 mm. Conclusions: In conclusion, our study indicates that performing aCGH in samples referred to invasive prenatal testing after first-trimester screening provides additional clinically valuable information over conventional karyotyping, even in cases with normal NT and anatomy

Genetic background of immune complications after allogeneic hematopoietic stem cell transplantation in children

Immune reactions are among the most serious complications observed after hematopoietic stem cell transplantation (HSCT) in children. Microarray technique allows for simultaneous assessment of expression of nearly all human genes. The objective of the study was to compare the whole genome expression in children before and after HSCT. A total of 33 children referred for HSCT were enrolled in the study. In 70% of the patients HSCT was performed for the treatment of neoplasms. Blood samples were obtained before HSCT and six months after the procedure. Subsequently, the whole genome expression was assessed in leukocytes using GeneChip Human Gene 1.0 ST microarray. The analysis of genomic profiles before and after HSCT revealed altered expression of 124 genes. Pathway enrichment analysis revealed upregulation of five pathways after HSCT: allograft rejection, graft-versus-host disease, type I diabetes mellitus, autoimmune thyroid disease, and viral myocarditis. The activation of those pathways seems to be related to immune reactions commonly observed after HSCT. Our results contribute to better understanding of the genomic background of the immunologic complications of HSCT