Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis

Journal of Neurology - TK2 deficiency (TK2d) is a rare mitochondrial disorder that manifests predominantly as a progressive myopathy with a broad spectrum of severity and age of onset. The rate of...     

Q fever endocarditis on porcine bioprosthetic valves. Clinicopathologic features and microbiologic findings in three patients treated with doxycycline, cotrimoxazole, and valve replacement

Three patients developed Q fever endocarditis on porcine bioprosthetic valves. They had a subacute or chronic course with nonspecific symptoms, enlargement of the liver and spleen, and cardiac failure due to destruction of the cusps, without disruption of the valve ring. High-phase I-specific IgG and IgA antibody titers against Coxiella burnetii were found. C. burnetii was isolated in each patient by inoculating suspensions of valve tissue into a human fetal diploid fibroblast cell line, which was grown as monolayers on slides contained inside rubber-stoppered tube cultures. Patients were treated successfully with doxycycline, cotrimoxazole, and valve replacement and were followed up for periods of 24 to 42 months; no evidence of deterioration was found. The human fetal diploid cell culture may be an expeditious, easy, and safe method to isolate C. burnetii from cardiac valves. Valve replacement seemed necessary to cure prosthetic-valve endocarditis due to C. burnetii infection. Combined therapy with doxycycline and cotrimoxazole may control the disease and prevent reinfection of the homografts replacing the valves.     

Synthesis and antichagasic properties of new 1,2,6-thiadiazin-3,5-dione 1,1-dioxides and related compounds.

In a search for antichagasic drugs, 14 new 4-(nitroarylidene)-1,2,6-thiadiazin-3,5-dione 1,1-dioxide derivatives were synthesized and tested in vitro against the epimastigote form of Trypanosoma cruzi and some of them showed important antiprotozoan activity. Attempts to synthesize new 4-(nitroarylidene)-3,5-diamino-1,2,6-thiadiazine 1,1-dioxides were unsuccessful. The antichagasic properties of nitroarylidene-malononitrile and nitroarylidene-cyanoacetamide derivatives, thus obtained, were also tested. The cytotoxic properties against Vero cells of compounds which showed remarkable in vitro antichagasic activity were evaluated. All compounds tested exhibited high toxicity percentages at 100 micrograms/ml. However, compound 3c showed in vitro antichagasic and cytotoxic properties such as nifurtimox at the dose of 10 micrograms/ml.     

Synthesis and antiprotozoan properties of new 3,5-disubstituted-tetrahydro-2H-1,3,5-thiadiazine-2-thione derivatives.

In a search for antiprotozoan compounds, 34 new 3,5-disubstituted-tetrahydro-2H-1,3,5-thiadiazine-2-thione derivatives were synthesized and tested in vitro against Trypanosoma cruzi and Trichomonas vaginalis. Some of them showed important antiprotozoan activity. In vivo assays of compounds which showed remarkable in vitro activity against T. vaginalis were carried out.     

Cranial hyperostosis as a metastasic adenocarcinoma presentation form

Hyperostosis is a volume-unit osseous increase of very diverse etiology. We present the case of a 68-year woman with a cranial hyperostosis debuting with frontal protrusion, headache and neurologic symptoms. Image proves demonstrated a hyperostosis in the calotte and meningeal enhancement, without intracerebral lesions nor malignant cells in the cerebrospinal fluid. Analytic data were unspecific. Cranial biopsy showed huge neoplastic infiltration in bone and meninges. Primary site remained unknown after a CAT and a mammography.     

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β‐Cardiac Myosin (MYH7) Distal Myopathy

Laing early onset distal myopathy and myosin storage myopathy are caused by mutations of slow skeletal/β‐cardiac myosin heavy chain encoded by the gene MYH7, as is a common form of familial hypertrophic/dilated cardiomyopathy. The mechanisms by which different phenotypes are produced by mutations in MYH7, even in the same region of the gene, are not known. To explore the clinical spectrum and pathobiology, we screened the MYH7 gene in 88 patients from 21 previously unpublished families presenting with distal or generalized skeletal muscle weakness, with or without cardiac involvement. Twelve novel mutations have been identified in thirteen families. In one of these families, the father of the proband was found to be a mosaic for the MYH7 mutation. In eight cases, de novo mutation appeared to have occurred, which was proven in four. The presenting complaint was footdrop, sometimes leading to delayed walking or tripping, in members of 17 families (81%), with other presentations including cardiomyopathy in infancy, generalized floppiness, and scoliosis. Cardiac involvement as well as skeletal muscle weakness was identified in nine of 21 families. Spinal involvement such as scoliosis or rigidity was identified in 12 (57%). This report widens the clinical and pathological phenotypes, and the genetics of MYH7 mutations leading to skeletal muscle diseases.