A case of late onset GM2 gangliosidodis with spinal muscular atrophy phenotype followed by cerebellar and extrapyramidal symptoms is presented. Genetic analysis revealed compound heterozygous ...mutation in exon 10 of the HEXA gene. Patient has normal intelligence and emotional reactivity. Neuroimaging tests of the brain showed only cerebellar atrophy consistent with MR spectroscopy (MRS) abnormalities. (18)F-fluorodeoxyglucose positron emission tomography (18)F-FDG PET/CT of the brain revealed glucose hypometabolism in cerebellum and in temporal and occipital lobes bilaterally.
•Late onset GM2 with spinal SMA phenotype followed by cerebellar symptoms and dystonia.•Compound heterozygous mutation in exon 10 of the HEXA gene.•MRI of the brain showed cerebellar atrophy consistent with MRS abnormalities.•FDG PET/CT showed hypometabolism in cerebellum and in temporal and occipital cortex.
Several uncontrolled studies report improvement in lung function, gas exchange, and exercise capacity after bilateral lung volume reduction surgery (LVRS). We recruited 200 patients with severe ...chronic obstructive pulmonary disease (COPD) for a prospective randomized trial of pulmonary rehabilitation versus bilateral LVRS with stapling resection of 20 to 40% of each lung. Pulmonary function tests, gas exchange, 6-min walk distance, and symptom-limited maximal exercise testing were done in all patients at baseline and after 8 wk of rehabilitation. Patients were then randomized to either 3 additional months of rehabilitation or LVRS. Thirty-seven patients met study criteria and were enrolled into the trial. Eighteen patients were in the medical arm; 15 of 18 patients completed 3 mo of additional pulmonary rehabilitation. Thirty-two patients underwent LVRS (19 in the surgical arm, 13 crossover from the medical arm). After 8 wk of pulmonary rehabilitation, pulmonary function tests remained unchanged compared with baseline data. However, there was a trend toward a higher 6-min walk distance (285 +/- 96 versus 269 +/- 91 m, p = 0.14) and total exercise time on maximal exercise test was significantly longer compared with baseline values (7.4 +/- 2.1 versus 5.8 +/- 1.7 min, p < 0.001). In 15 patients who completed 3 mo of additional rehabilitation, there was a trend to a higher maximal oxygen consumption (V O(2)max) (13.3 +/- 3.0 versus 12.6 +/- 3.3, p < 0.08). In contrast, at 3 mo post-LVRS, FVC (2.79 +/- 0.59 versus 2.36 +/- 0.55 L, p < 0.001) and FEV(1) (0.85 +/- 0.3 versus 0.65 +/- 0.16 L, p < 0.005) increased whereas TLC (6.53 +/- 1.3 versus 7.65 +/- 2.1 L, p < 0.001) and residual volume (RV) (3.7 +/- 1.2 versus 4.9 +/- 1.1 L, p < 0.001) decreased when compared with 8 wk postrehabilitation data. In addition, Pa(CO(2)) decreased significantly 3 mo post-LVRS compared with 8 wk postrehabilitation. Six-minute walk distance (6MWD), total exercise time, and V O(2)max were higher after LVRS but did not reach statistical significance. However, when 13 patients who crossed over from the medical to the surgical arm were included in the analysis, the increases in 6MWD (337 +/- 99 versus 282 +/- 100 m, p < 0.001) and V O(2)max (13.8 +/- 4 versus 12.0 +/- 3 ml/kg/min, p < 0.01) 3 mo post-LVRS were highly significant when compared with postrehabilitation data. The Sickness Impact Profile (SIP), a generalized measure of quality of life (QOL), was significantly improved after 8 wk of rehabilitation and was maintained after 3 mo of additional rehabilitation. A further improvement in QOL was observed 3 mo after LVRS compared with the initial improvement gained after 8 wk of rehabilitation. There were 3 (9.4%) postoperative deaths, and one patient died before surgery (2.7%). We conclude that bilateral LVRS, in addition to pulmonary rehabilitation, improves static lung function, gas exchange, and QOL compared with pulmonary rehabilitation alone. Further studies need to evaluate the risks, benefits, and durability of LVRS over time.
The title compound, C15H15Br2NO2, crystallizes with two mol-ecules in the asymmetric unit of the unit cell. In both mol-ecules, the tetra-hydro-furan rings adopt an envelope conformation with the O ...atom as the flap and the pyrrolidine rings adopt an envelope conformation. In the crystal, mol-ecules are linked by weak C-H⋯O hydrogen bonds, forming sheets lying parallel to the (002) plane. These sheets are connected only by weak van der Waals inter-actions. The most important contributions to the surface contacts are from H⋯H (44.6%), Br⋯H/H⋯Br (24.1%), O⋯H/H⋯O (13.5%) and C⋯H/H⋯C (11.2%) inter-actions, as concluded from a Hirshfeld surface analysis.
A reverse-phase high-performance liquid chromatography method was developed to quantify capsaicin (trans-8-methyl-N-vanillyl-6-nonenamid), dihydrocapsaicin (8-methyl-N-vanillylnonanamide) and the ...main capsaicinoid contents of Capsicum extracts. The chromatographic separation was carried out on a C8 column using isocratic mobile phase consisting of 40% (v/v) acetonitrile and 60% (v/v) orthophosphoric acid solution with flow rate of 1.5 mL/min. The concentration of the eluting compounds was monitored by a diode-array detector at wavelength of 281 nm. The method was evaluated for number of validation characteristics (selectivity, accuracy (confidence intervals <1%), repeatability and intermediate precision (RSD% < 2.5%), limit of detection (LOD), limit of quantification (LOQ) and calibration range). The LOD was 0.25 µg/mL and the LOQ was 0.5 µg/mL. Using methanolic solutions of United States Pharmacopoeia (USP) Capsaicin and Dihydrocapsaicin Reference Standards, the method was linear over the concentration range 0.0005-0.5000 mg/mL for both capsaicinoids. The method was applied to qualify capsaicinoid content of two industrial capsicum extracts according to the USP 29.
The title compound, C15H15Br2NO2, crystallizes with two molecules in the asymmetric unit of the unit cell. In both molecules, the tetrahydrofuran rings adopt an envelope conformation with the O atom ...as the flap and the pyrrolidine rings adopt an envelope conformation. In the crystal, molecules are linked by weak C—H...O hydrogen bonds, forming sheets lying parallel to the (002) plane. These sheets are connected only by weak van der Waals interactions. The most important contributions to the surface contacts are from H...H (44.6%), Br...H/H...Br (24.1%), O...H/H...O (13.5%) and C...H/H...C (11.2%) interactions, as concluded from a Hirshfeld surface analysis.
It was found that the reaction of 5-arylfurfurilamines with maleic anhydride leads to the formation of 6-aryl-3a,6-epoxyisoindole-7-carboxylic acids (the cyclic form), which in solution are in ...dynamic equilibrium with
N
-furfurylmaleinamides (the open form). During the esterification of these tautomeric mixtures with methanol in the presence of a catalytic amount of sulfuric acid, methyl esters of 5-aryl-7a-hydroxy-7-methoxy-3-oxo-2,3,3a,4,7,7a-hexahydro-1
H
-isoindole-4-carboxylic acids, unexpected cleavage products of the 3a,6-oxo bridge of the cyclic form, are formed diastereospecifically. The structure of the obtained products was confirmed by X-ray structural analysis.
▶ We grew pentacene films by pulsed laser deposition. ▶ Substrate orientation controlled growth mode. ▶ Elementary cell parameters were calculated from electron diffraction measurements.
Thin ...pentacene films were deposited on KCl and ITO/glass substrates by the pulsed laser deposition method (PLD) using a YAG:Nd
3+ laser with a second harmonic (
λ
=
532
nm). We compared the structure of the layer on differently oriented substrates with respect to the pentacene plasma plume – vertical and parallel orientation. The structure of the layers formed was examined using SEM, RHEED and THEED methods. The lattice parameters of the layer deposited on KCl were determined from THEED pattern (
a
=
5.928
Å,
b
=
7.874
Å,
c
=
14,98
Å,
α
=
76.54°,
β
=
75.17°, γ
=
89.20°). The preferred direction
1
1
¯
0
of the layer growth on KCl substrate was addressed. The effect of the substrate orientation results in a different growth mode of the layers.
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