Subject(s)
Histiocytosis, Sinus/pathology , Thyroid Gland/pathology , Thyroid Nodule/pathology , Diagnosis, Differential , Emperipolesis , Encephalitis/diagnosis , Female , Histiocytes/ultrastructure , Histiocytosis, Sinus/diagnosis , Histiocytosis, Sinus/drug therapy , Humans , Hypothyroidism/complications , Hypothyroidism/drug therapy , Leukoencephalopathies/diagnostic imaging , Leukoencephalopathies/etiology , Leukoencephalopathies/pathology , Lymphocytes/ultrastructure , Middle Aged , Prednisone/therapeutic use , Thyroid Gland/diagnostic imaging , Thyroid Nodule/diagnostic imaging , Thyroid Nodule/etiology , Thyroiditis, Autoimmune/diagnosis , Thyroxine/therapeutic useABSTRACT
No disponible
Subject(s)
Humans , Female , Middle Aged , Histiocytosis, Sinus/diagnosis , Histiocytosis, Sinus/drug therapy , Thyroid Diseases/complications , Prednisone/therapeutic use , Histiocytosis, Sinus/classification , Histiocytosis, Sinus/physiopathology , Gait Disorders, Neurologic/complications , Confusion/complications , Electroencephalography/methods , Hashimoto Disease/complications , Hashimoto Disease/diagnosis , Macrophages/cytologyABSTRACT
No disponible
Subject(s)
Female , Humans , Middle Aged , Subcutaneous Tissue/microbiology , Filariasis/microbiology , Dirofilaria/pathogenicity , Zoonoses/microbiology , Risk FactorsSubject(s)
Dirofilaria repens/isolation & purification , Dirofilariasis/diagnosis , Facial Dermatoses/parasitology , Granuloma/diagnosis , Animals , Dirofilariasis/parasitology , Dirofilariasis/transmission , Dog Diseases/parasitology , Dogs , Eyebrows , Female , Granuloma/parasitology , Humans , Middle Aged , Subcutaneous Tissue , ZoonosesABSTRACT
We report a heteroplasmic novel mutation m.5658T>C in the mt-tRNA(Asn) gene in a patient who initially presented myopathy, bilateral ptosis and ophthalmoparesis and several years later developed a non-nephrotic proteinuria. The muscle biopsy showed cytochrome c oxidase (COX) negative and ragged red fibers and in the kidney biopsy that was taken in order to identify the causes of non-nephrotic proteinuria, a focal segmental glomerulosclerosis was observed. Using laser capture microdissection we isolated COX negative fibers and COX positive fibers from the muscle of the patient and determined that there was a clear increase in the mutation load in the COX negative muscle fibers. However, the low degree of mutation load found in the renal biopsy of the patient does not allow us to conclude that the m.5658T>C mutation is responsible for focal glomerulosclerosis. Additionally, we hypothesize that the mutated m.5658T nucleotide might be structurally relevant, as it is one of the fifteen nucleotides conserved in all the species analyzed and is situated contiguously to the discriminator base in the 3'end of the mt-tRNA, where the tRNase Z cleaves the 3' trailer sequence during mt-tRNA maturation.
Subject(s)
Genes, Mitochondrial/genetics , Glomerulosclerosis, Focal Segmental/genetics , Mitochondrial Myopathies/genetics , Ophthalmoplegia/genetics , RNA, Transfer, Asn/genetics , Adult , Blepharoptosis/complications , Blepharoptosis/genetics , Glomerulosclerosis, Focal Segmental/complications , Humans , Male , Mitochondrial Myopathies/complications , Mutation , Ophthalmoplegia/complicationsABSTRACT
Los tumores de células transicionales del ovario constituyen un raro grupo de tumores epiteliales ováricos que, desde su primera descripción en 1932, han sido sujeto de numerosos trabajos para establecer su histogénesis y comprender su actividad endocrina. Comprenden dos categorías clínico-patológicas: los tumores de Brenner (benigno, borderline o proliferante y maligno) y el carcinoma de células transicionales. Presentamos un caso de tumor de Brenner benigno bilateral y de grandes dimensiones asociado a cistadenoma mucinoso en una mujer de 54 años con antecedentes de carcinoma de mama. Discutimos las principales características clínico-patológicas de este grupo de tumores epiteliales ováricos y su asociación con los tumores mucinosos(AU)
Transitional cell tumours constitute a rare group of ovarian epithelial neoplasms, first described in 1932 and still the subject of many studies to determine their histogenesis and endocrine activity. They are classified into two distinct clinicopathological categories: Brenner tumours (benign, borderline or proliferative and malignant) and transitional cell carcinoma. We report a case of a large, bilateral benign Brenner tumour associated with mucinous cystadenoma in a 54 year old woman with a history of breast carcinoma. The main clinical and pathological features of transitional cell ovarian tumours are described and their association with mucinous tumours is discussed(AU)
