Early Energy Deficit in Huntington Disease: Identification of a Plasma Biomarker Traceable during Disease Progression

Huntington disease (HD) is a fatal neurodegenerative disorder, with no effective treatment. The pathogenic mechanisms underlying HD have not been elucidated, but weight loss, associated with chorea and cognitive decline, is a characteristic feature of the disease that is accessible to investigation. We, therefore, performed a multiparametric study exploring body weight and the mechanisms of its loss in 32 presymptomatic carriers and HD patients in the early stages of the disease, compared to 21 controls. We combined this study with a multivariate statistical analysis of plasma components quantified by proton nuclear magnetic resonance (1H NMR) spectroscopy. We report evidence of an early hypermetabolic state in HD. Weight loss was observed in the HD group even in presymptomatic carriers, although their caloric intake was higher than that of controls. Inflammatory processes and primary hormonal dysfunction were excluded. 1H NMR spectroscopy on plasma did, however, distinguish HD patients at different stages of the disease and presymptomatic carriers from controls. This distinction was attributable to low levels of the branched chain amino acids (BCAA), valine, leucine and isoleucine. BCAA levels were correlated with weight loss and, importantly, with disease progression and abnormal triplet repeat expansion size in the HD1 gene. Levels of IGF1, which is regulated by BCAA, were also significantly lower in the HD group. Therefore, early weight loss in HD is associated with a systemic metabolic defect, and BCAA levels may be used as a biomarker, indicative of disease onset and early progression. The decreased plasma levels of BCAA may correspond to a critical need for Krebs cycle energy substrates in the brain that increased metabolism in the periphery is trying to provide

Magnez u pacjentów operowanych z powodu nowotworu odbytu lub jelita cienkiego i otrzymujących Całkowite Żywienie Pozajelitowe (CŻP) w okresie pooperacyjnym

Magnesium is fundamental to the existence of life. The consequence of altered magnesium homeostasis may be magnesium deficiency. It is well known that magnesium plays a role in tumour biology such as carcinogenesis, angiogenesis and tumour progression. In the field of gastrointestinal cancer surgery of the clinical importance, magnesium has not been specifically studied. Therefore, the aim of our study was to evaluate changes of magnesium concentrations in patients operated due to a small intestine or colorectal cancer parenterally nurtured in comparison with a group of patients submitted to surgical interventions due to gastrointestinal cancer but receiving standard nutrition after the operation. The study group involved 78 patients operated on for gastrointestinal cancer, who were divided into 3 groups: C – patients operated due to different types of alimentary tract cancers who were provided with normal feeding after the operation, I – patients operated due to colorectal cancer who were given TPN after the operation, II – patients operated due to small intestine cancer who were given TPN after the operation. Three measurements were performed in control group (C): the 1st measurement – a day before operation, the 2nd measurement – on the third day after the operation and the 3rd measurement – on the fifth day after the operation. In the group of patients receiving TPN, three measurements were performed as well: the 1st measurement – a day before operation, the 2nd measurement – on the third day after applying TPN and the 3rd measurement – on the fifth day after applying TPN. Our studies revealed that application of TPN, containing magnesium, in patients operated both due to colorectal cancer and small intestine cancer prevented decrease in the blood serum concentration of that element below the reference norm, which occurred in patients receiving standard diet.Magnez jest pierwiastkiem niezbędnym do życia. Konsekwencją zaburzeń homeostazy magnezu może być jego deficyt. Magnez odgrywa rolę w biologii nowotworów, tj. w karcinogenezie, angiogenezie lub rozwoju guza nowotworowego. Dotychczas nie ma szerokich badań dotyczących znaczenia magnezu w operacjach nowotworów przewodu pokarmowego. Dlatego celem badań było zbadanie zmian stężenia magnezu u pacjentów operowanych z powodu nowotworów odbytnicy lub jelita cienkiego i otrzymujących całkowite żywienie pozajelitowe w okresie pooperacyjnym, w porównaniu z grup¹ pacjentów poddanych interwencji chirurgicznej z powodu nowotworów przewodu pokarmowego, ale otrzymujących po operacji standardową dietę. Badaniem objęto 78 pacjentów operowanych z powodu nowotworów przewodu pokarmowego, których podzielono na 3 grupy: kontrolną (K) – pacjenci operowani z powodu różnych nowotworów przewodu pokarmowego, po operacji otrzymujący normalne żywienie, I – pacjenci operowani z powodu zaawansowanego nowotworu odbytnicy, po operacji otrzymujący CŻP, II – pacjenci operowani z powodu nowotworu jelita cienkiego, po operacji otrzymujący CŻP. W grupie K dokonywano trzech pomiarów w kolejnych okresach: 1. pomiar – doba przed operacją, 2. pomiar – trzecia doba po operacji, 3. pomiar – piąta doba po operacji. W grupach I, II – u pacjentów otrzymujących CŻP– dokonywano również trzech pomiarów: 1. pomiar – doba przed operacją, 2. pomiar – trzecia doba po zastosowaniu CŻP, 3. pomiar – piąta doba po zastosowaniu CŻP. W badaniach wykazano, że podawanie CŻP zawierającego magnez, zarówno chorym operowanym z powodu nowotworów odbytnicy, jak i nowotworów jelita cienkiego, zapobiega obniżeniu stężenia tego pierwiastka w osoczu krwi poniżej norm referencyjnych, tak jak to ma miejsce w przypadku pacjentów otrzymujących standardową dietę

Improved Oxidative Status In Major Abdominal Surgery Patients After N-Acetyl Cystein Supplementation

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