89) and the efficiency of recovery was similar among follicles < 12 mm, while larger follicles had a progressive increase in FF losses that was not related to the tubing system. In Trial III, the number of GC and amount of RNA obtained were not affected (P > 0.05) by follicle size, but differed according to breed (615,054+/-58,122 vs 458,095+/-36,407 for Holstein and Gir, respectively; P < 0.05).
The adapted-OPU system can be successfully used for the in vivo collection of FF and GC from follicles of different diameters. This will enable further endocrine, cellular, and gene expression analyses.”
“The distal myopathies are a heterogeneous group of genetic disorders defined by a predominant distal weakness SB431542 at onset or throughout the evolution of the disease and by pathological data supporting a myopathic process. The number of genes associated with distal myopathies continues to increase. Fourteen distinct distal myopathies Obeticholic mw are currently defined by their gene and causative mutations, compared to just five entities delineated on clinical grounds two decades ago. The known proteins affected in the distal myopathies are of many types and include a significant number of sarcomeric proteins. The
useful indicators for clinicians to direct towards a correct molecular diagnosis are the mode of inheritance, the age at onset, the pattern of muscle involvement, the serum creatine kinase level and the muscle pathology findings. This review gives an overview
of the clinical and genetic characteristics of the currently identified distal myopathies with emphasis on some recent findings. (C) 2013 Published by Elsevier Masson SAS.”
“Muscle diseases may have various clinical manifestations including muscle weakness, Sinomenine atrophy or hypertrophy and joint contractures. A spectrum of non-muscular manifestations (cardiac, respiratory, cutaneous, central and peripheral nervous system) may be associated. Few of these features are specific. Limb joint contractures or spine rigidity, when prevailing over muscle weakness in ambulant patients, are of high diagnostic value for diagnosis orientation. Within this context, among several disorders, four groups of diseases should systematically come to mind including the collagen VI-related myopathies, the Emery Dreifuss muscular dystrophies, the SEPN1 and FHL1 related myopathies. More rarely other genetic or acquired myopathies may present with marked contractures. Diagnostic work-up should include a comprehensive assessment including family history, neurological, cardiologic and respiratory evaluations. Paraclinical investigations should minimally include muscle imaging and electromyography. Muscle and skin biopsies as well as protein and molecular analyses usually help to reach a precise diagnosis. We will first describe the main muscle and neuromuscular junction diseases where contractures are typically a prominent symptom of high diagnostic value for diagnosis orientation.