Isolation and sequence analysis of Clpg1, a gene coding for an endopolygalacturonase of the phytopathogenic fungus Colletotrichum lindemuthianum.

Oligodeoxyribonucleotide primers designed from the N-terminal amino acid (aa) sequence of the endopolygalacturonase (EndoPG) of Colletotrichum lindemuthianum (Cl) race beta and from an internal sequence conserved among different fungal EndoPG were used in a polymerase chain reaction (PCR) to amplify genomic related sequences of the fungus. A 542-bp fragment, designated pgA, was obtained and used as a probe to screen a partial genomic library of Cl. Among the positive clones, one was further analyzed. Nucleotide sequencing of this clone revealed on ORF encoding a 363-amino-acid (aa) polypeptide beginning with a signal peptide of 26 aa interrupted by an intron of 70 bp, and showing a high degree of homology to ten fungal EndoPG sequences. Consensus sequences were identified in the 5' non-coding region. This genomic clone was thereafter designated Clpg1. Southern analysis, performed with a Clpg1-specific probe, showed that this gene is present as a single copy in the Cl genome.

Congenital fiber type disproportion in two sisters. A clinical and histopathological study.

Two sisters aged 27 and 29, respectively, born of nonconsanguineous parents, presented diffuse malformations at birth, followed by psychomotor retardation, reduction in muscle strength and easy fatigability at limbs. The clinical and neurophysiological examination as well as the histochemical study were indicative of a myopathic condition. Fiber type analysis in both patients showed that the type I fiber mean diameter was smaller than that of type II fibers by 12%. Clinical and laboratory findings are consistent with those observed in most cases of Congenital Fiber Type Disproportion, as described in literature.

A case of facio-scapulo-humero-peroneal myopathy with inflammatory changes. Preliminary data on distribution of mononuclear cells in muscle tissue.

We report the case of a 49 year old woman with clinical, electrophysiological and histochemical signs of facio-scapulohumeroperoneal dystrophy characterized by highly inflammatory changes. Lymphocyte typing by immunofluorescence and immunoperoxidase techniques on a muscle biopsy fragment revealed a large number of T8 cells at endomysial sites. There was no evidence of direct invasion of sound fibers by lymphocytes, which are thus unlikely to have exerted a primary cytotoxic action on the muscle tissue. Another finding was an increased number of macrophages in both endomysial and perivascular regions. Cell-mediated immunity did not play a significant role in the pathogenesis of our case, unlike other reported cases of polymyositis and facioscapulohumeral dystrophy with inflammatory findings.

Steroid myopathy: clinical and immunohistochemical study of a case.

A 42 year old woman with foot process disease, was treated with corticosteroids for 6 years. She had been suffering, for about 3 years from progressive muscle weakness of the limbs, accompanied by general paresthesia, cramps of the calves and burning muscle pain both at rest and an effort. The clinical, neurophysiological and histochemical examination indicated noninflammatory myopathic damage. The progressive reduction of corticosteroid dosage led rapidly to a distinct improvement, but not to a remission, of symptoms. Clinical and laboratory findings were consistent with those observed in most cases of steroid myopathy described in literature. We discuss the possible pathogenetic role of corticosteroids in this affection.

Myopathy associated with AIDS.

We report 3 cases of AIDS complicated by muscular disease: 2 with acute polymyositis and 1 with severe noninflammatory myopathy. Tests for an alternative infectious etiology were negative. HIV may well have a tropism for muscle tissue.

The idiopathic hypereosinophilic syndrome. Clinical, electrophysiological and histological study of a case.

A case of idiopathic hypereosinophilic syndrome (HES) is reported. The disease started at the age of 31, with polyneuropathic-like symptoms and disorders of the gastrointestinal tract. Hypereosinophilia and leukocytosis were observed. Instrumental investigation of the digestive tract showed esophagitis, a peptic ulceration, signs of chronic rectocolitis. Charcot-Leyden crystals were present in feces. Peripheral nervous system changes were seen with EMG and nerve conduction studies. Muscle biopsy findings were in agreement with the electrophysiological data and showed inflammatory abnormalities. Qualitative histology and teased nerve fiber studies of sural nerve indicated axonal degeneration. Protein substances derived from eosinophils degranulation may account for the disturbances observed in various systems and organs.

[Genetic, histochemical and ultrastructural study of a family with peculiar clinical expression of spinal muscular atrophy. Importance of biopsy examination in the detection of heterozygotes]. / Studio genetico, istochimico e ultrastrutturale di una famiglia con peculiare espressività clinica di atrofia muscolare spinale. Importanza dell'esame bioptico per la ricerca degli eterozigoti.

A clinical, histologic and ultrastructural study of a woman suffering for a slight form of spinal muscular atrophy and his heterozygotic husband is reported. The woman is daughter of kindred and her brothers have variable clinical manifestation of the disease. Therefore the genetic theory of the "three allels" is emphasized. The presence of histochemical changes in the muscular biopsy of the husband proposes the problem of the existence of tests for the heterozygosis in this disease.

[Apropos of a case of myopathy with histologic and electrophysiologic findings of both a myogenic and neurogenic nature]. / A proposito di un caso di miopatia con reperti istopatologici ed elettrofisiopatologici di natura sia miogena che neurogena.

The authors describe the case of a 36 years old woman suffering from muscular weakness with proximo-distal distribution to legs, and proximal to arms. The disease, appeared during the third decade of life, is slowly becoming more serious. Hematochemical analyses are all within a normal standard; EMG and histopathologic findings prove the existence of both a protopathic and neurogenic trouble in studied muscles. A therapy based on prednisone (50 mg/die) and ACTH (1 mg each 5 days) for a fourty days period doesn't cause essential changes in symptomatology. A cousin (on her mother's side) of our patient suffers from probable "sporadic distal myopathy". The authors discuss if the disease, shown by this patient, may be considered as an atypical form of SDM or if, what appears more probable, it must be nosographically framed as "scapuloperoneal atrophy".

Clinical evaluation of (-)eburnamonine in comparison with nicergoline in patients suffering from chronic brain ischemia.

The activity of (-)eburnamonine, a substance acting on the cerebral circulation and metabolism, was compared with that of nicergoline in a double-blind study carried out on a group of 28 patients (16 males and 12 females), suffering from established chronic brain ischemia. The treatment consisted of the administration for the first 5 days of 80 mg/day and for the following days of 60 mg/day of (-)eburnamonine, in 14 subjects. Nicergoline was administered to the other 14 subjects: 20 mg/day for the first 5 days and then 15 mg/day. The treatment was protracted for at least 20 days. (-)Eburnamonine appeared to influence some symptoms more rapidly and significantly than nicergoline. After 20 days of treatment the overall improvement obtained with (-)eburnamonine was 31 and 18% with nicergoline. No side effects or impairment of the biochemical tests appeared during either treatment.