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1.
AJNR Am J Neuroradiol ; 32(9): E169-71, 2011 Oct.
Article in English | MEDLINE | ID: mdl-21051514

ABSTRACT

We describe a 28-year-old man with presumed VKH syndrome, whose presenting symptoms were bilateral impaired vision and headaches. Orbital MR imaging findings included bilateral choroidal and retrobulbar contrast enhancement, while brain findings included white matter abnormalities on FLAIR and leptomeningeal enhancement. Pachymeningeal enhancement has been described previously; herein, we report a patient with VKH syndrome presenting solely with leptomeningeal enhancement. Thus, MR imaging may detect early CNS involvement by VKH disease before the onset of neurologic symptoms.


Subject(s)
Magnetic Resonance Imaging/methods , Meninges/pathology , Meningitis, Aseptic/pathology , Uveomeningoencephalitic Syndrome/pathology , Adult , Brain/pathology , Early Diagnosis , Humans , Male
2.
Braz. j. med. biol. res ; 40(12): 1689-1692, Dec. 2007. ilus
Article in English | LILACS | ID: lil-466744

ABSTRACT

Genotype E of hepatitis B virus (HBV) has not been described in Brazil and is found mainly in Africa. Genotype A is the most prevalent in Brazil, and genotypes B, C, D, and F have already been reported. We report here an HBV genotype E-infected patient and some characterization of surface (S) protein, DNA polymerase (P) and precore/core (preC/C) coding regions based on the viral genome. The patient is a 31-year-old black man with chronic hepatitis B who was born and raised in Angola. He has been followed by a hepatologist in São Paulo, Brazil, since November 2003, and he is a frequent traveler to Latin America, Africa, and Europe. In 2003, he was diagnosed with HBV infection and started treatment with lamivudine with the later addition of adefovir dipivoxil. No known risk factor was identified. Serologically, he is HBsAg and anti-HBe positive, but HBeAg and anti-HBs negative. DNA sequence analysis of the S/P region confirmed that this patient is infected with genotype E, subtype ayw4. The preC/C region showed G1896A and G1899A mutations but no mutations in the basal core promoter. Nucleotide substitutions common in genotype E were also observed (C1772, T1858 and A1757). Although this is not an autochthonous case and there is no evidence of further spread, the description of this case in Brazil highlights the current risk of viral genotypes spreading with unprecedented speed due to constant travel around the world.


Subject(s)
Adult , Humans , Male , Hepatitis B virus/genetics , Hepatitis B, Chronic/virology , Travel , Africa , Brazil , DNA, Viral/blood , Genotype , Hepatitis B Antibodies/blood , Hepatitis B e Antigens/blood , Hepatitis B virus/classification , Hepatitis B, Chronic/diagnosis , Phylogeny , Polymerase Chain Reaction , Viral Load
3.
Braz J Med Biol Res ; 40(12): 1689-92, 2007 Dec.
Article in English | MEDLINE | ID: mdl-17934636

ABSTRACT

Genotype E of hepatitis B virus (HBV) has not been described in Brazil and is found mainly in Africa. Genotype A is the most prevalent in Brazil, and genotypes B, C, D, and F have already been reported. We report here an HBV genotype E-infected patient and some characterization of surface (S) protein, DNA polymerase (P) and precore/core (preC/C) coding regions based on the viral genome. The patient is a 31-year-old black man with chronic hepatitis B who was born and raised in Angola. He has been followed by a hepatologist in São Paulo, Brazil, since November 2003, and he is a frequent traveler to Latin America, Africa, and Europe. In 2003, he was diagnosed with HBV infection and started treatment with lamivudine with the later addition of adefovir dipivoxil. No known risk factor was identified. Serologically, he is HBsAg and anti-HBe positive, but HBeAg and anti-HBs negative. DNA sequence analysis of the S/P region confirmed that this patient is infected with genotype E, subtype ayw4. The preC/C region showed G1896A and G1899A mutations but no mutations in the basal core promoter. Nucleotide substitutions common in genotype E were also observed (C1772, T1858 and A1757). Although this is not an autochthonous case and there is no evidence of further spread, the description of this case in Brazil highlights the current risk of viral genotypes spreading with unprecedented speed due to constant travel around the world.


Subject(s)
Hepatitis B virus/genetics , Hepatitis B, Chronic/virology , Travel , Adult , Africa , Brazil , DNA, Viral/blood , Genotype , Hepatitis B Antibodies/blood , Hepatitis B e Antigens/blood , Hepatitis B virus/classification , Hepatitis B, Chronic/diagnosis , Humans , Male , Phylogeny , Polymerase Chain Reaction , Viral Load
4.
J Chemother ; 18(5): 461-7, 2006 Oct.
Article in English | MEDLINE | ID: mdl-17127220

ABSTRACT

OBJECTIVES: To evaluate the antimicrobial susceptibility profile, the genetic similarity, and the mechanisms of carbapenem resistance among imipenem-resistant Pseudomonas aeruginosa isolates collected from a Brazilian tertiary teaching hospital. METHODS: Seventy-eight consecutive samples of P. aeruginosa were evaluated during 2000 and 2001. The antimicrobial susceptibility was evaluated by reference broth microdilution methods and the imipenem-resistant isolates were screened for metallo-beta-lactamase (MbetaL) production throughout disc approximation test and MbetaL Etest strips and isolates with positive screen test result were submitted to PCR assays using primers blaIMP-1, bla VIM-1, blaVIM-2 e blaSPM-1. The genetic similarity of MbetaL-producing strains was evaluated by automated ribotyping for epidemiological typing purpose. RESULTS: Resistance rates were high to the majority of antimicrobial agents tested except polymyxin B, which inhibited all samples at the Clinical and Laboratory Standards Institute breakpoint (< or = 2 microg/ml). Twenty-nine (37.2%) isolates were resistant to imipenem and these isolates showed great genomic variability. MbetaL production was demonstrated in two imipenem-resistant isolates, which were detected using blaSPM-1 and blaIMP-2-specific primers. Sequence analysis revealed the presence of blaSPM-1 and a novel blaIMP-type gene, blaIMP-16. CONCLUSION: The results of this study showed high resistance rates to the majority of antimicrobial agents among P. aeruginosa samples. High imipenem resistance rates were probably due to continuous selection of resistant mutants. The production of MbetaL did not represent a frequent mechanism of carbapenem resistance in this medical center; but a novel MbetaL was identified. Continued antimicrobial surveillance and infection control measures should be emphasized to minimize the emergence and dissemination of antimicrobial resistance.


Subject(s)
Imipenem/pharmacology , Pseudomonas Infections/drug therapy , Pseudomonas Infections/epidemiology , Pseudomonas aeruginosa/drug effects , beta-Lactam Resistance/physiology , Adolescent , Adult , Aged , Aged, 80 and over , Anti-Infective Agents/therapeutic use , Bacterial Typing Techniques/methods , Brazil , Child , Child, Preschool , Female , Humans , Imipenem/therapeutic use , Infant , Male , Microbial Sensitivity Tests/methods , Middle Aged , Pseudomonas Infections/microbiology , Sentinel Surveillance , beta-Lactam Resistance/genetics
5.
Clin Microbiol Infect ; 11(1): 73-6, 2005 Jan.
Article in English | MEDLINE | ID: mdl-15649310

ABSTRACT

Pseudomonas aeruginosa isolates (n=183), collected from bacteraemic patients hospitalised in Sao Paulo Hospital (Brazil) during 2000-2001, were screened for susceptibility to antimicrobial agents. The polymyxins were the most active compounds (100% susceptibility), followed by amikacin and cefepime (59.0%), meropenem (57.4%), and imipenem and gentamicin (55.2%). Imipenem-resistant isolates were ribotyped and screened for production of metallo-beta-lactamases (MBLs) by PCR with primers for bla(IMP), bla(VIM) and bla(SPM). MBL production was detected in 36 isolates (19.7% of the entire collection; 43.9% of the imipenem-resistant isolates) and the MBLs included SPM-1-like (55.6%), VIM-2-like (30.6%) and IMP-1-like (8.3%) enzymes.


Subject(s)
Anti-Bacterial Agents/pharmacology , Carbapenems/pharmacology , Hospitals, Teaching , Pseudomonas aeruginosa/drug effects , beta-Lactam Resistance , beta-Lactamases/genetics , Bacteremia/microbiology , Brazil , Humans , Imipenem/pharmacology , Microbial Sensitivity Tests , Polymerase Chain Reaction , Polymyxins/pharmacology , Pseudomonas Infections/microbiology , Pseudomonas aeruginosa/enzymology , Pseudomonas aeruginosa/genetics , beta-Lactamases/classification , beta-Lactamases/metabolism
6.
Clin Microbiol Infect ; 10(3): 260-2, 2004 Mar.
Article in English | MEDLINE | ID: mdl-15008950

ABSTRACT

The antimicrobial susceptibility patterns of 73 glycopeptide-resistant Enterococcus faecalis isolates from nine hospitals in Brazil were analysed by the disk diffusion method and Etests. Isolates were typed by pulsed-field gel electrophoresis (PFGE), and vancomycin resistance genes were detected by PCR. The isolates shared a single major PFGE pattern, with six subtypes, and all were positive for vanA. These results indicate the occurrence of inter-hospital dissemination of glycopeptide-resistant E. faecalis in São Paulo, and raise concerns about the rapid dissemination of this pathogen throughout Brazil.


Subject(s)
Anti-Bacterial Agents/pharmacology , Cross Infection/microbiology , Enterococcus faecalis/drug effects , Glycopeptides , Brazil , Drug Resistance, Bacterial , Electrophoresis, Gel, Pulsed-Field , Enterococcus faecalis/genetics , Humans
7.
J Clin Microbiol ; 39(11): 3976-81, 2001 Nov.
Article in English | MEDLINE | ID: mdl-11682517

ABSTRACT

The aim of this study was to assess the diversity and genomic variability of Pseudomonas aeruginosa isolates from cystic fibrosis (CF) patients being treated at a university hospital in Brazil. Ninety-seven isolates of P. aeruginosa from 43 CF patients were characterized by macrorestriction analysis of chromosomal DNA by pulsed-field gel electrophoresis (PFGE) and tested for susceptibility to 20 antimicrobial agents by broth microdilution. It was possible to evaluate single isolates from 20 patients and multiple isolates (two to seven) from 23 patients collected during a 22-month period. Among all of the unrelated patients, we detected only one pair of patients sharing a common strain. Among the 77 isolates from 23 patients who had multiple isolates analyzed, we identified 37 major types by PFGE, and five different colonization patterns were recognized. The isolates were susceptible to several antimicrobial agents, although consecutive isolates from the same patient may display differences in their susceptibilities. Mucoid isolates were more resistant (P < 0.001) than nonmucoid isolates to five antibiotics. Our results indicate that CF patients remain colonized by more than one strain of P. aeruginosa for long periods of time. In addition, the finding of several different genotypes in the same patient suggests that the colonizing strain may occasionally be replaced.


Subject(s)
Cystic Fibrosis/epidemiology , Cystic Fibrosis/microbiology , Genetic Variation , Pseudomonas Infections/microbiology , Pseudomonas aeruginosa/classification , Pseudomonas aeruginosa/genetics , Bacterial Typing Techniques , Brazil/epidemiology , Drug Resistance, Multiple, Bacterial , Electrophoresis, Gel, Pulsed-Field , Genotype , Humans , Microbial Sensitivity Tests/methods , Pseudomonas Infections/epidemiology , Pseudomonas aeruginosa/drug effects
8.
Braz J Infect Dis ; 4(5): 226-35, 2000 Oct.
Article in English | MEDLINE | ID: mdl-11063554

ABSTRACT

Combining tazobactam, a beta-lactamase inhibitor, with the ureidopenicillin, piperacillin, successfully restores the activity of piperacillin against beta-lactamase producing bacteria. Thus, piperacillin/tazobactam is highly active against most clinically important species of Gram-negative and Gram-positive bacteria, including anaerobes. We evaluated the in vitro activity of piperacillin/tazobactam against clinical isolates from a tertiary university hospital located in Sao Paulo, Brazil. Its activity was compared to that of ticarcillin/clavulanic acid, ampicillin/sulbactam, ceftazidime, ceftriaxone, cefotaxime, cefoxitin, aztreonam, and imipenem against 820 isolates (608 Gram-negative and 212 Gram-positive) collected from hospitalized patients in 1999. The most frequent species tested were Pseudomonas aeruginosa (168/20%), Escherichia coli (139/17%), Acinetobacter spp. (131/16%), and Staphylococcus aureus (76/9%). Of the isolates studied, 30% were from the bloodstream, 16% from the lower respiratory tract, and 11% from surgical wounds or soft tissue. The isolates were susceptibility tested by the broth microdilution method according to NCCLS procedures. The isolates tested were highly resistant to most antimicrobial agents evaluated. Imipenem resistance was not verified among Enterobacteriaceae, and piperacillin/tazobactam was the second most active beta-lactams against this group of bacteria (80.0% susceptibility). Extended-spectrum beta-lactamase production was very high among E. coli (approximately 20%) and Klebsiella pneumoniae (approximately 40%). Imipenem was uniformly active against these species (100% susceptibility) and piperacillin/tazobactam was the second most active compound inhibiting 84.4% of isolates. Pseudomonas aeruginosa was highly resistant to all beta-lactams evaluated and piperacillin/tazobactam was the most active compound against this species. Our results demonstrate an extremely high level of antimicrobial resistance in the hospital evaluated, especially among non-enteric Gram-negative bacilli. Due to this high level of resistance, piperacillin/tazobactam represents an important contribution to the treatment of nosocomial infections.


Subject(s)
Bacteria/drug effects , Cross Infection/microbiology , Drug Therapy, Combination/pharmacology , Penicillanic Acid/pharmacology , Piperacillin/pharmacology , beta-Lactams/pharmacology , Bacteria/isolation & purification , Bacterial Infections/microbiology , Brazil , Drug Resistance, Microbial , Drug Resistance, Multiple , Hospitals, University , Humans , Microbial Sensitivity Tests , Penicillanic Acid/analogs & derivatives , Piperacillin, Tazobactam Drug Combination
9.
J Antimicrob Chemother ; 41 Suppl B: 85-91, 1998 Mar.
Article in English | MEDLINE | ID: mdl-9579719

ABSTRACT

In immunocompromised patients, cryptosporidial diarrhoea is a debilitating and potentially life-threatening infection for which no effective specific therapy exists. In an uncontrolled study of 24 AIDS patients with diarrhoea exclusively due to Cryptosporidium spp., treatment with roxithromycin, 300 mg bd for 4 weeks, produced symptomatic improvement of diarrhoea in 79% of cases, with 50% of patients achieving complete response. The response rate was 100% in a subgroup of five patients with no previous or concomitant opportunistic infections. In complete responders, improvement was rapid, occurring within 3-5 days, and the duration of response was at least 6 months. Response did not appear to be correlated with the degree of immunodeficiency. The most limiting adverse effects were abdominal pain (two patients), elevated hepatic enzymes (two patients) and abdominal pain with elevated hepatic enzymes (one patient). Minor symptoms, such as gastrointestinal upset, occurred in nine patients. We conclude that roxithromycin is relatively well tolerated and effective against cryptosporidial diarrhoea in AIDS patients. Further studies to optimize dosing regimens are required.


Subject(s)
AIDS-Related Opportunistic Infections/drug therapy , Acquired Immunodeficiency Syndrome/parasitology , Anti-Bacterial Agents/therapeutic use , Cryptosporidiosis/drug therapy , Cryptosporidium , Diarrhea/drug therapy , Roxithromycin/therapeutic use , AIDS-Related Opportunistic Infections/parasitology , Acquired Immunodeficiency Syndrome/drug therapy , Adult , Animals , Anti-Bacterial Agents/adverse effects , Antiviral Agents/therapeutic use , Diarrhea/parasitology , Female , Humans , Male , Middle Aged , Roxithromycin/adverse effects
10.
J Pediatr (Rio J) ; 73(3): 161-5, 1997.
Article in Portuguese | MEDLINE | ID: mdl-14685410

ABSTRACT

OBJECTIVE: The aim of this study was to determine the prevalence of infection versus the prevalence of contamination in infants less than 60 days old who had blood cultures positive for CoNS. MATERIAL AND METHODS: Between February and June - 1993, a number of 45 blood cultures positive for CoNS from 41 patients were studied. Patients were classified in three groups according to their clinical and laboratorial data: I- infected patients, II- non-infected patients and III- dubious. RESULTS: The results showed that 11 patients (26.8%) were included in group I, 25 (61%) in group II (contaminated blood cultures), and 5 (12.2%) in group III. CONCLUSION: It is suggested that more than one blood culture should be requested before treatment with antimicrobials, avoiding unnecessary administration of antibiotics.

11.
J Biol Chem ; 265(6): 3102-5, 1990 Feb 25.
Article in English | MEDLINE | ID: mdl-2105942

ABSTRACT

Signal transduction in biological membranes is modulated by a family of GTP-binding proteins termed G proteins. Differences in the tissue-specific expression of G protein subtypes suggest that the levels of individual G proteins may be an important determinant of the hormonal response in a given cell type. We have used a polyclonal antibody raised against the purified G protein, alpha o to study alpha o in the rat pituitary cell line GH4 and in primary rat cardiocytes in culture by quantitative immunoprecipitation. Biosynthetic labeling and specific immunoprecipitation of alpha o in pulse-chase experiments demonstrated that the t1/2 for alpha o degradation is 28 +/- 7 h (n = 4) in GH4 pituitary cells and is greater than 72 h (n = 4) in cardiocytes. The steady-state level of alpha o protein is similar in both cell types as measured by Western blots. Northern blots of poly(A)-selected mRNA from these two cell types were probed with labeled alpha o cDNA and showed they have similar alpha o mRNA levels. The observation of different degradation rates, but similar steady-state protein levels, suggests that the rate of alpha o synthesis is different in GH4 cells and cardiocytes. Since mRNA levels are approximately equal in both, our studies imply that protein translation controls may be important determinants of G protein alpha subunit concentrations in biological membranes.


Subject(s)
GTP-Binding Proteins/metabolism , Myocardium/metabolism , Pituitary Neoplasms/metabolism , Animals , Blotting, Northern , Blotting, Western , Brain/metabolism , Cell Line , Cells, Cultured , GTP-Binding Proteins/biosynthesis , GTP-Binding Proteins/genetics , Heart Ventricles/metabolism , Immune Sera , Kinetics , Rats
12.
Acta Neurol Scand ; 68(1): 61-3, 1983 Jul.
Article in English | MEDLINE | ID: mdl-6613528

ABSTRACT

Two siblings with facio-scapulo-humeral dystrophy (FSH) had muscle biopsy with light microscopy and histochemistry performed. Rapid disease progression resulted in the death of one child at age 5 years. Such an outcome has not been previously reported.


Subject(s)
Facial Muscles/pathology , Muscles/pathology , Muscular Dystrophies/pathology , Arm/pathology , Child, Preschool , Female , Humans , Muscular Dystrophies/genetics , Shoulder/pathology
13.
Am J Surg Pathol ; 7(3): 285-92, 1983 Apr.
Article in English | MEDLINE | ID: mdl-6837836

ABSTRACT

A case of leiomyosarcoma arising in a preexisting leiomyoma of the broad ligament is presented with ultrastructural and Feulgen microspectrophotometric confirmation. This is the fourth reported case of leiomyosarcoma of the broad ligament and the second reported case to show evidence of a preexisting leiomyoma. Three of these patients died after intervals of 1, 7, and 19 months; one is alive and well with no evidence of disease after 12 years. The definitive evidence of malignant transformation of a leiomyoma has particular relevance to the controversy regarding the relationship of uterine leiomyosarcomas and leiomyomas.


Subject(s)
Leiomyosarcoma/ultrastructure , Ligaments , Uterine Neoplasms/ultrastructure , Aged , DNA/analysis , Female , Humans , Leiomyosarcoma/metabolism , Uterine Neoplasms/metabolism
14.
Neuroradiology ; 15(5): 247-51, 1978 Oct 02.
Article in English | MEDLINE | ID: mdl-724105

ABSTRACT

An infundibulum at the origin of the posterior communicating artery is observed to such an extent that it provokes little interest or comment. Although considered preaneurysmal by some, no serious consideration is given to its surgical removal. We present a patient with a subarachnoid hemorrhage, a middle cerebral artery aneurysm, and bilateral posterior communicating artery infundibula to draw attention to the importance of the infundibulum in certain circumstances.


Subject(s)
Intracranial Aneurysm/diagnostic imaging , Intracranial Arteriovenous Malformations/diagnostic imaging , Brain/pathology , Cerebral Angiography , Humans , Intracranial Aneurysm/etiology , Intracranial Arteriovenous Malformations/complications , Male , Middle Aged , Rupture, Spontaneous , Subarachnoid Hemorrhage/etiology , Subarachnoid Hemorrhage/pathology , Tomography, X-Ray Computed
15.
Cancer ; 41(2): 519-27, 1978 Feb.
Article in English | MEDLINE | ID: mdl-630534

ABSTRACT

A primary leptomeningeal melanoma in a 19-year-old white women has been shown by electron microscopy to contain light and dark cells. The light cells fill the subarachnoid space, contain mature melanosomes and exhibit intracytoplasmic fine fibrils. The dark cells are found within the collagen network of pia-arachnoid. They possess a small rim of ribosomal-rich cytoplasms, occasional premelanosomes and no intracytoplasmic fibrils. The tumor cells appear to arise from these dark activated melanoblasts in the pia-arachnoid and proliferate into more differentiated light cells. A similar pattern of two types of cells has not been described in primary CNS melanomas. The possibility of differentiation from cutaneous melanoma is discussed.


Subject(s)
Melanoma/ultrastructure , Meningeal Neoplasms/ultrastructure , Adult , Arachnoid/ultrastructure , Cell Differentiation , Cytoplasmic Granules/ultrastructure , Female , Humans , Melanocytes/ultrastructure , Organoids/ultrastructure , Pia Mater/ultrastructure
16.
J Neurosurg ; 47(3): 442-50, 1977 Sep.
Article in English | MEDLINE | ID: mdl-894346

ABSTRACT

Pigmented carcinoma of the choroid plexus was found in a 33-year-old man. Autopsy revealed no primary tumor in the skin or eyes. A slightly cystic pigmented tumor was present in the right lateral ventricle infiltrating the thalamus and striatum. Metastatic implants were found in both temporal lobes and the cerebellum. The spinal cord was covered by black meningeal nodules, and the cauda equina was completely encased by the tumor. Metastases were found in the liver, pancreas, and kidney. Microscopically the mass contained normal choroid plexus with psammoma bodies adjacent to carcinomatous epithelium forming prominent papillae and tubules. Melanin granules were found within the neoplastic cells and in the stroma. Electron microscopy demonstrated melanin granules in various stages of development in the cells, which were joined one to another by desmosome-like structures. This is the second reported case of pigmented carcinoma of the choroid plexus and the first with metastases outside the central nervous system.


Subject(s)
Cerebral Ventricle Neoplasms/pathology , Choroid Plexus/pathology , Melanoma/pathology , Adult , Cerebral Ventricle Neoplasms/ultrastructure , Humans , Male , Melanoma/ultrastructure , Neoplasm Metastasis
17.
Acta Neuropathol ; 36(1): 31-8, 1976 Sep 15.
Article in English | MEDLINE | ID: mdl-61698

ABSTRACT

Whipple's disease presenting as a neurological disease without gastrointestinal symptoms is an unusual occurrence. A 40 year old man suffered hypersomnia, memory loss and progressive ophthalmoplegia for 6 months prior to death. The nature of this disease was not established during life. Extensive granulomatous inflammation affecting the hypothalamus, hippocampus and periaqueductal gray matter of the brain was found to represent Whipple's disease by electron microscopy. Characteristic lesions were also present in spleen, mesenteric lymph nodes, small intestine and myocardium. Bacillary bodies and membranous inclusions similar to those seen in visceral lesions of Whipple's disease were present in macrophages. The findings supported the theory of direct involvement of the central nervous system by bacilli rather than a metabolic origin for the lesions.


Subject(s)
Brain/ultrastructure , Whipple Disease/pathology , Adult , Humans , Inclusion Bodies/ultrastructure , Macrophages/ultrastructure , Male , Neurologic Manifestations , Whipple Disease/microbiology
18.
Arch Neurol ; 33(7): 466-74, 1976 Jul.
Article in English | MEDLINE | ID: mdl-132914

ABSTRACT

Skeletal muscles from four infants with a severe neonatal form of myotonic muscular dystrophy showed histopathologic features of immaturity. Three of the infants died in the neonatal period and were studied at autopsy; one of these and the still-living infant had a gastrocnemius muscle biopsy. The most severely involved muscles were those associated with arthrogrypotic joints regardless of function as flexors or extensors. Pharyngeal muscles and the diaphragm were also severely involved. Immature features included irregularly distributed small, round muscles fibers with large vesicular internal nuclei and sparse myofibrils. Histochemical differentiation was incomplete and fiber types often could not be distinguished. Muscle fiber degeneration and other features of myotonic dystrophy in adult muscle were lacking. Electron microscopy showed fine granular chromatin and convoluted nuclear membranes of centronuclear fibers, dialated transvers tubules that were aligned longitudinally as in fetal myotubes, poorly formed Z-bands, simple mitochondria, and many satellite cells. We suggest that these features represent an arrest in fetal muscle maturation due to unresponsiveness of an abnormal sarcolemma to trophic influences of normal innervation.


Subject(s)
Infant, Newborn, Diseases/pathology , Muscles/pathology , Myotonic Dystrophy/pathology , Arthrogryposis/pathology , Cell Differentiation , Cell Nucleus/ultrastructure , Diaphragm/pathology , Female , Humans , Infant, Newborn , Male , Muscle Spindles/pathology , Muscles/ultrastructure , Myofibrils/ultrastructure , Sarcolemma/ultrastructure , Sarcoplasmic Reticulum/ultrastructure , Vacuoles/ultrastructure
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