Search results for "Malin"

Congenital Myopathies in the New Millennium

2005

Few medical disciplines have benefited so enormously from the molecular revolution as myology. Whereas the congenital myopathies have flourished from enzyme histochemistry and electron microscopy, defining individual congenital myopathies by structural abnormalities, genetic research has only recently focused on congenital myopathies. However, a number of congenital myopathies have been molecularly elucidated: central and multiminicore diseases, nemaline myopathy, myotubular myopathy, and congenital myopathy marked by aggregation of proteins, giving rise to the concept of protein aggregate myopathies, to which now desminopathies, α-B crystallinopathies, selenoproteinopathy, myotilinopathy,…

Protein Aggregation in Muscle Fibers and Respective Neuromuscular Disorders

2007

Protein aggregation in muscle fibers may be a nonspecific phenomenon such as occurring in cores or ragged red fibers. However, it may also be a disease-specific and disease-significant phenomenon constituting protein aggregate myopathies (PAMs). These may be divided into two classes: The first one is marked by impaired extralysosomal degradation of proteins, catabolic PAM, encompassing desmin-related myopathies. Mutant proteins, that is, desmin, myotilin, or α-B crystallin, defy protein degradation, aggregate and associate with other proteins within muscle fibers, hence marking desminopathies, myotilinopathies, and α-B crystallinopathies. A second class of PAM encompasses those apparently a…

Ilmajoen ja Nordmalingin talonpoikien varallisuuden ja luottosuhteiden vertailu perukirjojen mukaan vuosina 1796-1830

2008

Influence of formalin fixation on the biomechanical properties of human diaphyseal bone.

2010

Owing to the lack of fresh human bones, formalin-fixed specimens are frequently used in biomechanical testing. However, formalin fixation is assumed to affect the biomechanical properties of bone. The aim of this study was to compare axial and torsional stiffness and bone mineral density in fresh and embalmed human bones. The subtrochanteric regions of 12 pairs of fresh human femora were randomised into two groups for paired comparison. After bone mineral density measurement, one group was preserved in 4% formalin. After 6 weeks, bone mineral density was remeasured and each specimen underwent axial and torsional loading. The formalin group showed significant higher stiffness values for tors…

A Newly-Detected Reductase fromRauvolfiaCloses a Gap in the Biosynthesis of the Antiarrhythmic Alkaloid Ajmaline

2002

A new enzyme, 1,2-dihydrovomilenine reductase (E.C. 1.3.1), has been detected in Rauvolfia cell suspension cultures. The enzyme specifically converts 2beta( R)-1,2-dihydrovomilenine through an NADPH-dependent reaction into 17-O-acetylnorajmaline, a close biosynthetic precursor of the antiarrhythmic alkaloid ajmaline from Rauvolfia. A five-step purification procedure using SOURCE 30Q chromatography, hydroxyapatite chromatography, 2',5'-ADP Sepharose 4B affinity chromatography and ion exchange chromatography on DEAE Sepharose and Mono Q delivered an approximately 200-fold enriched enzyme in a yield of approximately 6%. SDS-PAGE showed an M r for the enzyme of approximately 48 kDa. Optimum pH …

Trace-element partitioning and boron isotope fractionation between white mica and tourmaline

2011

High-grade metamorphic tourmaline and white mica from the Broken Hill area, NSW, Australia, were analyzed with laser-ablation ICP–MS and ion-probe techniques to investigate the partitioning of trace elements and fractionation of boron isotopes between these two coexisting phases. The results indicate that most trace elements show partition coefficients close to one; only elements such as Zn, Sr, the light rare-earth elements La and Ce, and Th, partition preferentially into tourmaline, whereas Rb, Ba, W, Sn, and Nb and Ta are preferentially partitioned into coexisting mica. The ion-probe measurements demonstrate that boron isotopes are strongly fractionated between mica and tourmaline, with …

Experimental emetine myopathy: enzyme histochemical, electron microscopic, and immunomorphological studies.

1993

Ipecac, containing emetine hydrochloride, is used by patients with anorexia nervosa to induce vomiting. Its chronic usage may result in a myopathy and a cardiomyopathy, the former marked by cytoplasmic bodies. We studied myopathological changes after daily injections of female Wistar rats with emetine hydrochloride intraperitoneally for periods of 4, 5, 9, and 10 weeks. the extensor digitorum longus muscle and the soleus muscle showed core-like lesions, streaming of the z-discs, nemaline bodies, cytoplasmic bodies, and spheroid cytoplasmic bodies. Immunomorphological studies revealed increased amounts of desmin. During a period of repair, i.e., 2, 4, and 6 weeks after termination of emetine…

Neonatal form of nemaline myopathy, muscle immaturity, and a microvascular injury.

1990

An infant with a neonatal form of nemaline myopathy showed ultrastructural features of muscle immaturity. Immaturity was characterized by an abnormal presence of myotubes, as well as cells in clusters within a common basement membrane and a great number of satellite cells adhering to very small muscle fibers. In addition, degenerative changes and a severe microvascular lesion were observed. The pathologic findings in the muscle of this patient were those of neonatal nemaline myopathy complicating severe microvascular injury, possibly induced by an unknown toxic agent. ( J Child Neurol 1990;5:122-126).

Surplus protein myopathies.

2001

Abstract Certain muscular dystrophies are marked by absence or reduction of mutant proteins, foremost dystrophinopathies and sarcoglycanopathies. Conversely, other sporadic and familial neuromuscular conditions are marked by a surplus of proteins present in a granular or filamentous form, such as desmin-related myopathies, actinopathy and, perhaps, hyaline body myopathy. This emerging group of congenital myopathies is clinically, immunohistochemically, and genetically diverse. Clinically, early- and late-onset diseases with variable courses are described. Immunohistochemically, mutant gene-related and other proteins have been identified by immunohistochemistry. Mutations in the desmin and α…

121st ENMC International Workshop on Desmin and Protein Aggregate Myopathies. 7–9 November 2003, Naarden, The Netherlands

2004

The 121st European Neuromuscular Centre (ENMC)sponsored International Workshop on ‘DESMIN and Protein Aggregate Myopathies’, attended by 16 active participants from France, Germany, Poland, Spain, Sweden, the United Kingdom and the USA, was actually the fourth one in a row addressing the pathology of the muscle fibre intermediate filament desmin, its associated and similar diseases, all four [1–3] organized by Michel Fardeau and Hans H. Goebel. In his introduction, the chairman, Hans H. Goebel (Mainz), recorded the evolution of ‘Protein Aggregate Myopathies (PAM)’ which are marked by the accumulation of diverse proteins within muscle fibres as a morphologic hallmark in separate myopathies w…