PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia.

PLA2G6-associated neurodegeneration (PLAN) and hereditary spastic paraplegia (HSP) are 2 groups of heterogeneous neurodegenerative diseases. In this study, we report PLA2G6 gene mutations in 3 families from Turkey, Morocco, and Romania. Two affected Turkish siblings presenting HSP adds the disease to PLAN phenotypes. They were homozygous for the PLA2G6 missense c.2239C>T, p.Arg747Trp variant and the ages of onset were 9 and 21. Parkinsonism, dystonia or cognitive decline were not the clinical elements in these patients contrary to the cases that has been previously reported with the same variant, however, iron accumulation was evident in their cranial magnetic resonance imaging. The Moroccan patient was homozygous for a novel missense c.1786C>T, p.Leu596Phe variant and the Romanian patient had 2 novel mutations; c.1898C>T, p.Ala633Val and c.1765_1768del, p.Ser589ThrfsTer76. Both of these patients conformed better to childhood onset PLAN with the age of onset at 4 and 7 years, respectively. Interestingly, all identified mutations were affecting the highly conserved patatin-like phospholipase domain of the PLA2G6 protein.

Density functional theory study on the identification of 3-[(2-morpholinoethylimino)methyl]benzene-1,2-diol.

This study deals with the identification of a title compound, 3-[(2-morpholinoethylimino)methyl]benzene-1,2-diol by means of quantum chemical calculations. The optimized molecular structures, vibrational frequencies and corresponding vibrational assignments, thermodynamic properties, charge analyses, nuclear magnetic resonance (NMR) chemical shifts and ultraviolet-visible (UV-vis) spectra of the title molecule in the ground state were evaluated using density functional theory (DFT) with the standard B3LYP/6-311++G(d,p) method and basis set combination for the first time. Theoretical vibrational spectra of the title compound were interpreted with the aid of normal coordinate analysis based on scaled density functional force field. The results show that the obtained optimized geometric parameters (bond lengths, bond angles and bond dihedrals) and vibrational frequencies were observed to be in good agreement with the available experimental results. Moreover, the calculations of the electronic spectra, (13)C and (1)H chemical shifts were compared with the experimental ones. Furthermore, we not only simulated the frontier molecular orbitals (FMO) and molecular electrostatic potential (MEP) but also determined the transition states and energy band gaps, as well. It was found that charge analyses supported the evidences of MEP. Infrared intensities and Raman activities were also reported.

The impact of prolonged hunger strike: clinical and laboratory aspects of twenty-five hunger strikers.

BACKGROUND: Hunger strike is a very serious entity which may lead to severe diseases and death. AIMS: The aim of this study is to document the clinical, neurophysiological, neuroradiological, and neuropsychological aspects of prolonged hunger strike. MATERIAL AND METHOD: We investigated the clinical and laboratory characteristics of 25 hungerstrikers hospitalized during refeeding process. One sample t-test, independent samples t-test, Mann-Whitney and Pearson correlation tests were used for statistical analyses. RESULTS: Twelve of them had a continuous hunger strike ranging between 190-366 days. The other 13 had quitting intervals for various reasons with a continuous hunger ranging between 65-265 days with a total hunger duration of 153-382 days. The mean loss of body mass index (BMI) was 40.98 +/- 9.3%. Imbalance, sleep disorders, somatosensory disturbances, and adynamia were the most common complaints. At admission, one third experienced ophthalmoparesis, about half of them had paresis, one quarter had truncal ataxia. At discharge 16% had persistent ophthalmoparesis and 36% nystagmus. Only four patients (16%) could walk independently. There was no serious MRI, EEG findings. Most prominent EMG findings were the decrease in median and sural nerve cnap, median and fibular cmap, and fibular ncv values. They showed mild impairment in MMTS and most of them had attention deficit and frontal type memory impairment. CONCLUSION: It can be concluded that vitamin B intake, independent of the quantity and timing, lowers the morbidity and mortality of hunger strikers.