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1.
Chem Commun (Camb) ; 52(12): 2605-8, 2016 Feb 11.
Article in English | MEDLINE | ID: mdl-26750775

ABSTRACT

Pyridine derivatives coordinated to copper(ii) formates are shown to have lower decomposition temperatures than the alkylamine analogues. Using heating profiles compatible with low temperature substrates, deposited inks made from these compounds are transformed into copper traces with a resistivity value of 14 µΩ cm when sintered at 135 °C in <5 minutes.

2.
Clin Genet ; 67(4): 341-51, 2005 Apr.
Article in English | MEDLINE | ID: mdl-15733271

ABSTRACT

Cri du Chat syndrome (CdCs) is a well-defined clinical entity, with an incidence of 1/15,000 to 1/50,000. The critical region for CdCs has been mapped to 5p15, with the hallmark cat-like cry sublocalized to 5p15.3 and the remaining clinical features to 5p15.2. We report findings in a subject with a de novo t(5;7)(p15.2;p12.2) and an inv(3)(p24q24), who was found to have a cryptic microdeletion in the critical region for CdCs detected using a 1-Mb genomic microarray. In addition to 5p deletion, the proband had a de novo single clone loss at the 3p breakpoint of inv(3)(p24q24) and a familial single clone deletion at 18q12. Deletions were confirmed using microsatellite analysis and fluorescence in situ hybridization. The 5p deletion encompasses approximately 3 Mb, mapping to the border between bands 5p15.2 and 5p15.31. The single clone deletion on chromosome 3 maps to 3p24.3-3p25, for which there is no known phenotype. The clinical features of our proband differ from the characteristic CdC phenotype, which may reflect the combined effect of the two de novo microdeletions and/or may further refine the critical region for CdCs. Typical features of CdCs that are present in the proband include moderate intellectual disability, speech, and motor delay as well as dysmorphic features (e.g. broad and high nasal root, hypertelorism, and coarse facies). Expected CdCs features that are not present are growth delay, microcephaly, round facies, micrognathia, epicanthal folds, and the signature high-pitched cry. Behavioral traits in this subject included autism spectrum disorder, attention-deficit hyperactivity disorder, and unmanageable behavior including aggression, tantrums, irritability, and self-destructive behavior. Several of these behaviors have been previously reported in patients with 5p deletion syndrome. Although most agree on the cat-cry critical region (5p15.3), there is discrepancy in the precise location and size of the region associated with the more severe manifestations of CdCs. The clinical description of this proband and the characterization of his 5p deletion may help to further refine the phenotype-genotype associations in CdCs and autism spectrum disorder.


Subject(s)
Autistic Disorder/genetics , Chromosome Deletion , Cri-du-Chat Syndrome/genetics , Adolescent , Autistic Disorder/complications , Child , Child, Preschool , Chromosome Banding , Chromosomes, Human, Pair 3/genetics , Chromosomes, Human, Pair 5/genetics , Cri-du-Chat Syndrome/complications , Female , Genotype , Humans , In Situ Hybridization, Fluorescence , Male , Microsatellite Repeats/genetics , Phenotype
3.
Int J Obes Relat Metab Disord ; 25(9): 1316-21, 2001 Sep.
Article in English | MEDLINE | ID: mdl-11571593

ABSTRACT

OBJECTIVE: To examine skeletal muscle intracellular triglyceride concentration in different fiber types in relation to obesity. DESIGN: Skeletal muscle fiber type distribution and intracellular lipid content were measured in vastus lateralis samples obtained by needle biopsy from lean and obese individuals. SUBJECTS: Seven lean controls (body mass index (BMI) 23.0+/-3.3 kg/m(2); mean+/-s.d.) and 14 obese (BMI 33.7+/-2.7 kg/m(2)) individuals; both groups included comparable proportions of men and women. MEASUREMENTS: Samples were histochemically stained for the identification of muscle fiber types (myosin ATPase) and intracellular lipid aggregates (oil red O dye). The number and size of fat aggregates as well as their concentration within type I, IIA and IIB muscle fiber types were measured. The cellular distribution of the lipid aggregates was also examined. RESULTS: The size of fat aggregates was not affected by obesity but the number of lipid droplets within muscle fibers was twice as abundant in obese compared to lean individuals. This was seen in type I (298+/-135 vs 129+/-75; obese vs lean, P<0.05), IIA (132+/-67 vs 79+/-29; P<0.05), and IIB (103+/-63 vs 51+/-13; P<0.05) muscle fibers. A more central distribution of lipid droplets was observed in muscle fibers of obese compared to lean subjects (27.2+/-5.7 vs 19.7+/-6.4%; P<0.05). CONCLUSION: The higher number of lipid aggregates and the disposition to a greater central distribution in all fiber types in obesity indicate important changes in lipid metabolism and/or storage that are fiber type-independent.


Subject(s)
Muscle Fibers, Skeletal/chemistry , Muscle, Skeletal/chemistry , Obesity/physiopathology , Triglycerides/analysis , Adult , Azo Compounds , Biopsy, Needle , Coloring Agents , Female , Histocytochemistry , Humans , Male , Muscle Fibers, Skeletal/classification , Muscle Fibers, Skeletal/enzymology , Muscle Fibers, Skeletal/pathology , Muscle, Skeletal/anatomy & histology , Muscle, Skeletal/metabolism , Muscle, Skeletal/pathology , Myosins/analysis
4.
Am J Physiol Endocrinol Metab ; 280(4): E632-9, 2001 Apr.
Article in English | MEDLINE | ID: mdl-11254471

ABSTRACT

To determine the effects of weight loss on intramyocellular energy substrates, vastus lateralis muscle biopsies were taken from six obese subjects (body mass index 34 +/- 5 kg/m(2)) before, after 15 wk of energy restriction (ER; -700 kcal/day), and after a further average 20.7 +/- 1.6 wk of endurance training plus low-fat diet (ET-LFD). Body weight fell from 100 +/- 6 to 89 +/- 6 kg during ER and to 84 +/- 4 kg after ET-LFD. Lipids and glycogen were histochemically measured in type I, IIA, and IIB fibers. Total muscle glycogen content (MGC; per 100 fibers) decreased after ER [from 72 +/- 13 to 55 +/- 8 arbitrary units (AU)]. A similar but not significant decrease was seen in total muscle lipid content (MLC; 14 +/- 5 to 9 +/- 1 AU). After ET-LFD, MGC returned to initial values (74 +/- 8 AU), and MLC approached near-initial values (12 +/- 3 AU). Individual fiber lipid concentration did not change throughout the protocol in all fiber types, whereas glycogen concentration increased after ET-LFD. The training effects of ET-LFD were measured as increasing activities of key mitochondrial enzymes. Although total muscle energy reserves can be reduced after weight loss, their concentration within individual myofibers remains elevated. Weight loss does not appear sufficient to correct the potential detrimental effects of high intracellular lipid concentrations.


Subject(s)
Diet, Fat-Restricted , Exercise/physiology , Lipid Metabolism , Muscle, Skeletal/metabolism , Obesity/diet therapy , Obesity/metabolism , Physical Education and Training , Adult , Anthropometry , Female , Glycogen/metabolism , Humans , Male , Muscle, Skeletal/enzymology , Muscle, Skeletal/pathology , Obesity/pathology , Osmolar Concentration , Physical Endurance , Tissue Distribution , Weight Loss
5.
Photochem Photobiol ; 56(4): 423-6, 1992 Oct.
Article in English | MEDLINE | ID: mdl-1454871

ABSTRACT

Short lived reaction intermediates such as triplet states and free radicals can be detected in vivo using laser photolysis techniques with time-resolved diffuse reflectance detection. This novel approach is illustrated for bacterial suspensions of Bacillus subtilis.


Subject(s)
Bacillus subtilis/metabolism , Free Radicals/metabolism , Lasers , Photolysis , Spectrophotometry/methods
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