Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pathomorphological studies were taken of 104 muscle samples (including M. longissimus dorsi, adductor, semimembranaceus) obtained from 26 piglets, aged between one and three days and received from six stocks (large whites, land race, hybrids), which exhibited symptoms of congenital splayleg. Presence of myofibrillar hypoplasia or disseminated necrotisation of fibre was established by light microscopy. Some of the piglets, however, failed to exhibit substantive changes at all. Four types of fibre were differentiated by electron microscopy: (1) the normal type (with intact fibrils, plenty of lipids etc.), (2) the hypoplastic type (inhibition of protein synthesis, lack and immaturity of fibrils, disorder of paraplasmatic substances), (3) the dystrophic type (variable defects of fibrils, decay), (4) the primitive type (myoplastlike cell elements with precipitate fibrillogenesis). While those types were of variegated intramuscular occurrence, some predominance was established of dystrophic changes. Hence, spraddle-legged piglets seem to be afflicted with disorder of muscular development accompanied by signs of myopathy. Outbreak and intensity of clinical symptoms are believed to depend on exogenous factors.
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PMID:[Electronmicroscopic findings in the skeletal muscles of newborn swine with congenital splayleg]. 98 13

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.
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PMID:Neonatal form of nemaline myopathy, muscle immaturity, and a microvascular injury. 216 Oct 30

Czechoslovak child neurologists devoted much attention to central infantile hypotonic syndrome (CIHS) in a series of investigations conducted in 1959-1986. They found that it is a developmental syndrome caused by affection of the immature brain, and later, at the age of 3-5 years, it disappears or transforms into other syndromes: most frequently cerebellar syndromes and developmental disintegrations (disintegration of the development of the CNS and medium-grade mental retardation). These groups overlap only little. From the hypotonic syndrome also the spastic syndrome or minor cerebral syndromes may develop. CIHS has, similarly as some other manifestations of CNS affections, multiple causes. One of them is most probably a defect of or lack of development of facilitating pathways of gamma fibres from the cerebellum or possibly from the reticular formation of the brain stem to the spinal cord; another probable cause is longer immaturity of the afferent system (which leads finally to developmental disintegration). It may be assumed that the facilitating systems of pathways develop later and are thus more immature and therefore more vulnerable. According to the latest information it seems that in CIHS also the muscular component participates as prenatal cerebral affections can cause myopathy with hypotonia.
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PMID:[Central infantile hypotonia syndrome]. 273 94

The classification of centronuclear myotubular myopathies is controversial. Within this group of disorders, congenital X-linked recessive myotubular myopathy (XLMTM), characterized by marked cell hypotrophy and structural resemblance to fetal myotubes, represents a distinct entity. The histologic findings in verified and probable cases of XLMTM are reviewed. In addition, the ultrastructural features of muscle in one case of XLMTM are compared with those of normal fetal muscle at various developmental ages. In XLMTM both muscle and nerve show evidence of immaturity. Proliferation of the sarcotubular organelles in XLMTM, not observed in normal fetal muscle, may be due to impaired innervation.
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PMID:X-linked recessive myotubular myopathy: II. Muscle morphology and human myogenesis. 654 63

A Japanese infant with a severe neonatal form of nemaline myopathy showed features of muscle immaturity as well as rods in the biopsied quadriceps femoris muscle, and involvement of diaphragm was first confirmed at autopsy. The biopsied muscle showed numerous rods in 80% of muscle fibers, and an increased number of type 2C fibers (23.2%). Electron microscopic findings were characterized by the presence of many small, immature round fibers with central nuclei and sparse myofibrils, and an increased number of satellite cells in close association with the small muscle fibers, as well as numerous rod structures. These microscopic and electron microscopic findings are interpreted as immature muscle fibers. Maturational delay or arrest implies deprivation of a development promoting factor such as a neuronal signal. Severe involvement with numerous rods was demonstrated in both diaphragm and intercostal muscles at the time of the postmortem examination, compatible with the patient's respiratory failure.
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PMID:Severe neonatal nemaline myopathy with delayed maturation of muscle. 873 6

Many patients with a severe infantile form of congenital myopathies have respiratory and feeding difficulties from early infancy. We experienced a male patient who required an artificial ventilation soon after birth and showed marked generalized muscle weakness involving the facial muscles. He had skull deformity and mild mental retardation at the age of one year and 10 months. The first muscle biopsy at the age of 1 month showed small caliber fibers and an increase in the number of undifferentiated type 2C fibers, indicating muscle fiber immaturity. Since type 1 fibers were smaller than type 2 fibers, he was tentatively diagnosed as having congenital fiber type disproportion myopathy. The muscle biopsied findings improved significantly in the second biopsy at 1 year of age which showed type 1 fiber predominance but no cytoarchitectural abnormalities. Accordingly, he was diagnosed as having congenital myopathy with type 1 fiber predominance. A severe neonatal form of congenital myopathies may show striking muscle fiber immaturity in the early infancy. This may later develop into characteristic morphologic findings such as the formation of nemalines and cores, and abnormal fiber type distribution.
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PMID:[A case of congenital myopathy with the pathologic transformation from fiber type disproportion to type 1 fiber predominance myopathy]. 969 25

We reported a male patient with X-linked myotubular myopathy in whom MTM 1 gene mutation was first identified in Japan. The patient had 9-nucleotide insertion between exons 11 and 12 due to aberrant splicing. The patient showed severe hypotonia and generalized muscle weakness at birth. Mechanical ventilation and tube feeding were necessary because of poor spontaneous respiration and sucking. On muscle biopsy, most of the muscle fibers were small and round, and had peripheral halos, showing immaturity. He had a moderate ventricular dilatation and mild brain atrophy on brain CT and MRI. However, whether these findings are causally related to the splice-site mutation remained obscure.
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PMID:[X-linked recessive myotubular myopathy with a splice-site mutation in the myotubularin gene]. 984 18

We report on the first case of X-linked recessive myotubular myopathy (MTM1) coinciding with Duchenne muscular dystrophy (DMD). The muscle biopsy specimens of the patient show only the characteristic findings of MTM1, without the findings of DMD. We theorize that this was caused by the muscle fiber immaturity and inactivity.
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PMID:Muscle fiber immaturity and inactivity reduce myonecrosis in Duchenne muscular dystrophy. 985 44

Using immunohistochemical methods, we assessed the distribution of all 10 known laminin chains (alpha1-5, beta1-3, gamma1 and gamma2) in skeletal muscles from patients with Duchenne, congenital, limb girdle, or Emery-Dreifuss muscular dystrophies. The alpha2, beta1 and gamma1 chains were abundant in the basal lamina surrounding muscle fibers in normal controls; alpha1, alpha3-alpha5, beta3, and gamma2 were undetectable; and beta2 was present at a low level. Compared to controls, levels of the alpha5 chain were increased in muscles from many dystrophic patients; levels of beta1 were reduced and/or levels of beta2 were increased in a minority. However, these changes were neither specific for, nor consistent within, diagnostic categories. In contrast, levels of alpha4 were increased in muscles from all patients with alpha2 laminin (merosin)-deficient congenital muscular dystrophy. Loss of alpha2 laminin in congenital dystrophy is disease-specific but some other changes in laminin isoform expression in dystrophic muscles could be secondary consequences of myopathy, denervation, regeneration or immaturity. To distinguish among these possibilities, we compared the laminins of embryonic, denervated, regenerating, and mutant mouse muscles with those in normal adult muscle. Embryonic muscle basal lamina contained alpha4 and alpha5 along with alpha2, and regenerating muscle re-expressed alpha5 but not alpha4. Levels of alpha5 but not alpha4 were increased in dystrophin (mdx) mutants and in dystrophin/utrophin double mutants (mdx:utrn -/-), models for Duchenne dystrophy. In contrast, laminin alpha4 was upregulated more than alpha5 in muscles of laminin alpha2 mutant mice (dy/dy; a model for alpha2-deficient congenital dystrophy). Based on these results, we hypothesize that the expression of alpha5 in many dystrophies reflects the regenerative process, whereas the selective expression of alpha4 in alpha2-deficient muscle is a specific compensatory response to loss of alpha2.
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PMID:Distribution of ten laminin chains in dystrophic and regenerating muscles. 1054 49

Golden retriever muscular dystrophy (GRMD), a degenerative myopathy due to the absence of dystrophin, is genetically homologous to human Duchenne muscular dystrophy (DMD). Spontaneous death of GRMD neonates within the first 2 weeks of life occurs frequently. This report describes the microscopical muscle lesions that developed in 12 GRMD puppies aged 1-8 days of age, and makes a comparison with three normal age-matched siblings and two older GRMD dogs. Immunohistochemical methods were used to confirm dystrophin deficiency in GRMD puppies. Muscle lesions were assessed on sections stained with haematoxylin-eosin-saffron, Gomori's trichrome and alizarin red S, and their severity was graded semi-quantitatively. Muscle fibre types were determined immunohistochemically on the basis of the pattern of expression of developmental, slow and fast isoforms of myosin. Muscle lesions in the GRMD puppies were characterized by massive necrosis, affecting most muscles of the proximal limbs, trunk and neck at birth. Lingual lesions began to develop in utero, and respiratory muscles underwent terminal diffuse necrosis resulting in death from acute respiratory failure. However, GRMD puppies do not invariably die in the neonatal period. Muscle in 2-month-old GRMD dogs showed signs of regeneration (immunohistochemical immaturity of muscle tissue), which suggested that all GRMD dogs suffer from massive post-natal myonecrosis, whether fatal or not. Muscle lesions in neonates consisted mainly of hyalinization, hypertrophy, calcification and necrosis, followed by regeneration. Such "phase I" lesions due to the absence of dystrophin are found in all species in which dystrophin deficiency has been described (human beings, dogs, cats and mice), whereas the endomysial fibrosis and myofibre atrophy found in 2-month-old GRMD dogs constituted "phase II" lesions, which are specific to GRMD and human DMD.
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PMID:Muscle lesions associated with dystrophin deficiency in neonatal golden retriever puppies. 1194 98


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