In Vivo DYSF Gene Viral Delivery Provides a Histoprotective Effect in Skeletal Muscle Tissue in Dysferlin-Deficient Mice.

We studied the effects of a dual-vector DYSF gene delivery system based on adeno-associated virus serotype 9 capsids on pathological manifestations of dysferlinopathy in skeletal muscles of Bla/J mice lacking DYSF expression. The mice received intravenous injection of 3×10 genomic copies of the virus containing the dual-vector system. M.

Structural and ultrastructural changes in the skeletal muscles of dysferlin-deficient mice during postnatal ontogenesis.

A number of sarcolemma proteins are responsible for muscle fiber repair. Dysferlin encoded by the gene is one of these proteins. Dysferlin promotes membrane repair in striated muscle fibers (MFs).

Postnatal development of the microstructure of cortical GABAergic synapses and perineuronal nets requires sensory input.

The brain synaptic circuitry is formed as a result of pre-defined genetic programs and sensory experience during postnatal development. Perineuronal nets ensheath synaptic boutons and control several crucial features of the synapse physiology. Formation of the perineuronal net microstructure during the brain development remains largely unstudied.

[Pathohistological characteristics of muscles in patients with chronic lower limb ischemia].

Unlabelled: Despite the widespread occurrence of ischemic diseases of the lower extremities, including atherosclerosis and diseases with an autoimmune component of their pathogenesis, the pathohistological signs of damage and concomitant chronic ischemia, compensatory tissue responses as intracellular and cellular regeneration remain out of the field of vision in researchers.

Objective: To assess the signs of damage (the extent of necrosis and apoptosis, capillary density (CD)) and regeneration (the cross-sectional muscle fiber area (CSMFA), the proportion of centrinucleated muscle fibers (CNMFs), and that of connective tissue), by using the gastrocnemius medial head biopsy specimens obtained from patients with heterogeneous forms of chronic lower limb obliterating diseases (CLLODs).

Subjects And Methods: The investigation included the biopsy specimens obtained from 44 men under 65 years of age (their mean age was 54±9.

Reactive Changes in Elements of Stromal-Vascular Differons of Dysferlin-Deficient Skeletal Muscles after Procaine Injection.

The study assessed reactivity of stromal-vascular skeletal muscle differons to acute chemical injury. Dysferlin-deficient Bla/J mice and the wild-type С57BL/6 mice were intramuscularly injected with 100 μl of 0.5% procaine solution.

Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene.

A family of five male siblings (three survivors at 48, 53 and 58 years old; two deceased at 8 months old and 2.5 years old) demonstrating significant phenotypic variability ranging from intermediate to the myosclerotic like Bethlem myopathy is presented. Whole-exome sequencing (WES) identified a new homozygous missense mutation chr21:47402679 T > C in the canonical splice donor site of the second intron (c.

Early ultra- and microstructural alterations in rat pancreas in alloxan-induced diabetes mellitus.

An adequate experimental model is important to understand pathophysiological processes ongoing in the pancreas with diabetes mellitus. Our study was aimed to describe early ultra- and microstructural changes in the rat pancreas in 12-48 h after alloxan administration in a dose of 180 mg/kg. A histopathological examination of the endocrine pancreas revealed the loss of borders between endocrine cells, granular dystrophy and degranulation, sings of necrosis in central cells of the Langerhans islets and apoptosis of their peripheral ones manifested as DNA fragmentation and an increased expression of apoptosis markers.

Quantitative changes in perineuronal nets in development and posttraumatic condition.

Perineuronal net (PNN) is a highly structured portion of the CNS extracellular matrix (ECM) regulating synaptic plasticity and a range of pathologic conditions including posttraumatic regeneration and epilepsy. Here we studied Wisteria floribunda agglutinin-stained histological sections to quantify the PNN size and enrichment of chondroitin sulfates in mouse brain and spinal cord. Somatosensory cortex sections were examined during the period of PNN establishment at postnatal days 14, 21 and 28.

Caroli syndrome: a clinical case with detailed histopathological analysis.

Herein we present a clinical case of the Caroli syndrome caused by the compound heterozygous mutation in the PKHD1 gene. Histopathological assessment of liver detected biliary cirrhosis, numerous dilated bile ducts of various sizes, hyperplastic cholangiocytes containing a large amount of acid mucopolysaccharides, decreased ß-tubulin expression and increased proliferation of cholangiocytes. A significant proportion of hepatic tissue was composed of giant cysts lined with a single layer of cholangiocytes, containing pus and bile in its lumen and surrounded by granulation tissue.

In vitro assessment of electrospun polyamide-6 scaffolds for esophageal tissue engineering.

Artificial tissue-engineered grafts offer a potential alternative to autologous tissue grafts for patients, which can be traumatic. After decellularizing Papio hamadryas esophagus and studying the morphology and physical properties of the extracellular matrix (ECM), we generated electrospun polyamide-6 based scaffolds to mimic it. The scaffolds supported a greater mechanical load than the native ECM and demonstrated similar 3D microstructure, with randomly aligned fibers, 90% porosity, 29 μm maximal pore size, and average fiber diameter of 2.

Glu20Ter Variant in 1f Isoform Causes Limb-Girdle Muscle Dystrophy with Lung Injury.

Plectinopathies are orphan diseases caused by gene mutations. is encoding the protein plectin, playing a role in linking cytoskeleton components in various tissues. In this study, we describe the clinical case of a 26-year-old patient with an early onset plectinopathy variant "limb-girdle muscle dystrophy type 2Q," report histopathological and ultrastructural findings in m.

Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy.

Limb-girdle muscular dystrophy type 2 (LGMD2B) is a mild form of dysferlinopathy, characterized by limb weakness and wasting. It is an autosomal recessive disease, with currently 140 mutations in the LGMD2B gene identified. Lack of functional dysferlin inhibits muscle fiber regeneration in voluntary muscles, the main pathological finding in LGMD2B patients.

Corrigendum: Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan.

[This corrects the article on p. 77 in vol. 8, PMID: 28337173.

Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan.

To date, over 30 genes with mutations causing limb-girdle muscle dystrophy have been described. Dysferlinopathies are a form of limb-girdle muscle dystrophy type 2B with an incidence ranging from 1:1,300 to 1:200,000 in different populations. In 1996, Dr.

Spatial patterns and cell surface clusters in perineuronal nets.

Perineuronal nets (PNN) ensheath GABAergic and glutamatergic synapses on neuronal cell surface in the central nervous system (CNS), have neuroprotective effect in animal models of Alzheimer disease and regulate synaptic plasticity during development and regeneration. Crucial insights were obtained recently concerning molecular composition and physiological importance of PNN but the microstructure of the network remains largely unstudied. Here we used histochemistry, fluorescent microscopy and quantitative image analysis to study the PNN structure in adult mouse and rat neurons from layers IV and VI of the somatosensory cortex.

[Outcomes of using autologous peripheral-blood stem cells in patients with chronic lower arterial insufficiency].

Presented herein are the outcomes of using autologous peripheral blood stem cells (SCs) in patients with stage II В lower limb chronic obliterating diseases (according to A.V. Pokrovsky's classification).