Management of Pregnancy in Women With Genetic Disorders, Part 1: Disorders of the Connective Tissue, Muscle, Vascular, and Skeletal Systems

2011 ◽  
Vol 66 (11) ◽  
pp. 699-709 ◽  
Author(s):  
Shilpa Prema Chetty ◽  
Brian L. Shaffer ◽  
Mary E. Norton
Keyword(s):  
Connective Tissue ◽  
Genetic Disorders

Muscle, Connective Tissue, and Neonatal Disorders

2019 ◽  
pp. 425-467
Keyword(s):  
Connective Tissue ◽  
Fragile X ◽  
Genetic Disorders ◽  
Human Muscle ◽  
Muscle System ◽  
Anchor Points ◽  
Ellis Van Creveld Syndrome ◽  
Lateral Sclerosis ◽  
And Cartilage ◽  
Fibrodysplasia Ossificans Progressive

The skeleton provides the framework and anchor points against which muscles, attached via tendons, can exert force. Three types of cells are involved in making bone: osteoblasts, osteoclasts, and cartilage. The human muscle system is made up of three types of muscle tissue: skeletal, cardiac, and smooth. The neonate period of life is the first 4 weeks after the birth of an infant. This chapter presents 11 genetic disorders that affect muscles, connective tissue, and newborns. These include achondroplasia, Charcot-Marie tooth syndrome, Duchenne Muscular Dystrophy, Ellis-Van Creveld syndrome, amyotrophic lateral sclerosis, Marfan syndrome, fibrodysplasia ossificans progressive, myotonic dystrophy, Angelman syndrome, Prader-Willi syndrome, fragile-X syndrome, and Waardenburg syndrome.

scholarly journals Clinical prognostic relevance of elastin and laminin in children with undifferentiated connective tissue disease

2021 ◽  
Vol 4 (4) ◽  
pp. 351-354
Author(s):  
N.S. Cherkasov ◽  
◽  
T.N. Doronina ◽  
A.V. Prakhov ◽  
Yu.A. Lutsenko ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Genetic Disorders ◽  
Sandwich Elisa ◽  
Connective Tissue Diseases ◽  
Threshold Value ◽  
Serum Levels ◽  
Prognostic Indicators ◽  
Undifferentiated Connective Tissue Disease ◽  
Prognostic Relevance

Aim: to determine clinical prognostic relevance of elastin and laminin in children with undifferentiated connective tissue disease (UCTD). Patients and Methods: 47 children with UCTD aged 3–6 were enrolled. The diagnosis was verified by ruling out genetic disorders via analyzing family tree, genetic consultation, etc. Phenotypic and visceral signs were interpreted based on "Congenital and multifactorial connective tissue diseases in children" guidelines (2016). The results of cardiovascular and urinary tract ultrasound were analyzed. Serum levels of elastin and laminin were measured by the sandwich ELISA using high-sensitive kits. All tests were performed at admission and after two years. Results: prognostic relevance (prognostic coefficient) of individual phenotypic and visceral signs and lab tests and prognostic threshold value (the sum of prognostic coefficients indicating high, moderate, or low risk of UCTD progression) were determined. It was demonstrated that measuring elastin and laminin levels improves the efficacy of UCTD progression risk assessment. This phenomenon was supported by the values of their prognostic coefficient, which were comparable to the values of significant phenotypic and visceral signs. Furthermore, the accuracy of prognosis based on the use of a set of prognostic indicators (phenotypic, visceral, and biochemical) was supported by the escalation of dysplasia signs. After two years, disease progression was reported in 36 out of 38 children with a moderate and high risk of UCTD progression as identified by the initial evaluation. Conclusion: given the relevance of elastin and laminin in dysplasia pathogenesis, these parameters are considered informative to assess the risk of dysplasia progression in children aged 3–6. It is reasonable to use elastin and laminin levels as additional criteria to evaluate the risk of UCTD progression. KEYWORDS: undifferentiated connective tissue disease, prediction, children, phenotypic signs, laminin, elastin, risk of progression, cardiovascular system, urinary system. FOR CITATION: Cherkasov N.S., Doronina T.N., Prakhov A.V., Lutsenko Yu.A. Clinical prognostic relevance of elastin and laminin in children with undifferentiated connective tissue disease. Russian Journal of Woman and Child Health. 2021;4(4):351–354 (in Russ.). DOI: 10.32364/2618-8430-2021-4-4-351-354.

scholarly journals Undifferentiated connective tissue dysplasia in dermatological and cosmetological practice (clinical case)

2019 ◽  
Vol 2 (26) ◽  
pp. 29-33
Author(s):  
E. V. Ikonnikova ◽  
A. G. Stenko ◽  
L. S. Kruglova
Keyword(s):  
Connective Tissue ◽  
Clinical Case ◽  
Clinical Observation ◽  
Genetic Disorders ◽  
Connective Tissue Dysplasia

The article presents a case of clinical observation of a patient with connective tissue dysplasia. This pathology, as a result of various genetic disorders, includes an extensive group of different systemic conditions, most of which have certain dermatological pathologies as the main or concomitant symptom. We describe the questions of etiology, clinic and diagnosis of connective tissue dysplasia. This clinical case is interesting to practicing dermatologists and cosmetologists in connection with the high appeal of this category of patients for aesthetic help.

Induction and Differentiation of Dental Epithelium in Vivo and in Vitro

1982 ◽  
Vol 40 ◽  
pp. 142-145
Author(s):  
E. J. Kollar
Keyword(s):  
Connective Tissue ◽  
Oral Mucosa ◽  
Basal Lamina ◽  
Functional Derivatives ◽  
Specific Source ◽  
Dental Epithelium ◽  
Connective Tissue Stroma

The differentiation and maintenance of many specialized epithelial structures are dependent on the underlying connective tissue stroma and on an intact basal lamina. These requirements are especially stringent in the development and maintenance of the skin and oral mucosa. The keratinization patterns of thin or thick cornified layers as well as the appearance of specialized functional derivatives such as hair and teeth can be correlated with the specific source of stroma which supports these differentiated expressions.

Ultrastructure of Liver in Lactosyl Ceramidosis

1971 ◽  
Vol 29 ◽  
pp. 312-313
Author(s):  
Z. Hruban ◽  
J. R. Esterly ◽  
G. Dawson ◽  
A. O. Stein
Keyword(s):  
Connective Tissue ◽  
Liver Biopsy ◽  
Osmium Tetroxide ◽  
Close Contact ◽  
Multivesicular Bodies ◽  
Bile Canaliculi ◽  
Dense Bodies ◽  
Marginal Plates ◽  
Membranous Material ◽  
Perichromatin Granules

Samples of a surgical liver biopsy from a patient with lactosyl ceramidosis were fixed in paraformaldehyde and postfixed in osmium tetroxide. Hepatocytes (Figs. 1, 2) contained 0.4 to 2.1 μ inclusions (LCI) limited by a single membrane containing lucid matrix and short segments of curved, lamellated and circular membranous material (Fig. 3). Numerous LCI in large connective tissue cells were up to 11 μ in diameter (Fig. 2). Heterogeneous dense bodies (“lysosomes”) were few and irregularly distributed. Rough cisternae were dilated and contained smooth vesicles and surface invaginations. Close contact with mitochondria was rare. Stacks were small and rare. Vesicular rough reticulum and glycogen rosettes were abundant. Smooth vesicular reticulum was moderately abundant. Mitochondria were round with few cristae and rare matrical granules. Golgi complex was seen rarely (Fig. 1). Microbodies with marginal plates were usual. Multivesicular bodies were very rare. Neutral lipid was rare. Nucleoli were small and perichromatin granules were large. Small bile canaliculi had few microvilli (Fig. 1).

Ultrastructure of Lymphatic Capillaries in the Transport of Colloidal Particles

1967 ◽  
Vol 25 ◽  
pp. 186-187
Author(s):  
L. V. Leak ◽  
J. F. Burke
Keyword(s):  
Connective Tissue ◽  
Colloidal Particles ◽  
Ultrastructural Level ◽  
Vital Role ◽  
Time Intervals ◽  
Thorium Dioxide ◽  
Lymphatic Capillary ◽  
Tissue Area ◽  
Rapid Removal ◽  
Tissue Fluids

The vital role played by the lymphatic capillaries in the transfer of tissue fluids and particulate materials from the connective tissue area can be demonstrated by the rapid removal of injected vital dyes into the tissue areas. In order to ascertain the mechanisms involved in the transfer of substances from the connective tissue area at the ultrastructural level, we have injected colloidal particles of varying sizes which range from 80 A up to 900-mμ. These colloidal particles (colloidal ferritin 80-100A, thorium dioxide 100-200 A, biological carbon 200-300 and latex spheres 900-mμ) are injected directly into the interstitial spaces of the connective tissue with glass micro-needles mounted in a modified Chambers micromanipulator. The progress of the particles from the interstitial space into the lymphatic capillary lumen is followed by observing tissues from animals (skin of the guinea pig ear) that were injected at various time intervals ranging from 5 minutes up to 6 months.

Banded Structures in the Connective Tissue of Meningioma

1976 ◽  
Vol 34 ◽  
pp. 234-235
Author(s):  
C. N. Sun ◽  
H. J. White
Keyword(s):  
Connective Tissue ◽  
Osmium Tetroxide ◽  
Uranyl Acetate ◽  
Collagen Fibrils ◽  
Lead Citrate ◽  
Connective Tissues ◽  
Native Collagen ◽  
Routine Procedures

Previously, we have reported on extracellular cross-striated banded structures in human connective tissues of a variety of organs (1). Since then, more material has been examined and other techniques applied. Recently, we studied a fibrocytic meningioma of the falx. After the specimen was fixed in 4% buffered glutaraldehyde and post-fixed in 1% buffered osmium tetroxide, other routine procedures were followed for embedding in Epon 812. Sections were stained with uranyl acetate and lead citrate. There were numerous cross striated banded structures in aggregated bundle forms found in the connecfive tissue of the tumor. The banded material has a periodicity of about 450 Å and where it assumes a filamentous arrangement, appears to be about 800 Å in diameter. In comparison with the vicinal native collagen fibrils, the banded material Is sometimes about twice the diameter of native collagen.

Banded aggregates containing fibrillin are present in the cartilage matrix adjacent to chondrocytes in individuals affected with scoliosis

1992 ◽  
Vol 50 (1) ◽  
pp. 892-893
Author(s):  
Douglas R. Keene ◽  
Magaret Fairhurst ◽  
Catherine C. Ridgway ◽  
Lynn Y. Sakai
Keyword(s):  
Connective Tissue ◽  
Marfan Syndrome ◽  
Cross Section ◽  
Immunoelectron Microscopy ◽  
Cartilage Matrix ◽  
Negative Stain ◽  
Gene Coding ◽  
Rotary Shadowing

Matrix microfibrils are present in the connective tissue matrices of all tissues. Following standard TEM processing, they appear in cross section as cylindrical fibrils 8-10 nm in diameter, often associated with amorphous elastin. They are also seen in the absence of amorphous elastin, for example in the shallow papillary layer of skin, and also in cartilage matrix (Figure 1). Negative stain and rotary shadowing studies suggest that microfibrils are composed of laterally associated globular structures connected by fine filamentous strands (“ beaded strings”), and that they are extendable. Immunoelectron microscopy has demonstrated that fibrillin, a 350 Kd glycoprotein, is distributed along all microfibrils with a relaxed periodicity of about 54 nm The gene coding for fibrillin has recently been identified and is defective in the Marfan syndrome.

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