ABSTRACT
Neste trabalho descrevemos as malformaçöes e co-morbidades observadas em pacientes com síndrome de Turner (ST). Foi realizado um estudo retrospectivo, avaliando os prontuários de 60 pacientes cujo diagnóstico de ST foi confirmado através do cariótipo, desde a fase pré-natal até a idade de 49 anos. As pacientes encontram-se com idades entre 1 e 50 anos e foram evoluídas num período de 4 meses a 29 anos. Trinta e uma apresentavam o cariótipo 45X0, 24 eram mosaico e 5 apresentavam o padräo 46Xi, (i,Xq). Todas tinham baixa estatura e algum tipo de estigma. Cinco (8,3 por cento) näo apresentavam outras malformaçöes congênitas e eram saudàveis; 55 (91,6 por cento) apresentavam doenças associadas, sendo que em 23 (38,3 por cento) foram detectadas doenças endócrinas, em 16 (26,6 por cento) otorrinolaringológicas, 15 (25 por cento) cardiológicas, 14 (23,3 por cento) nefrológicas e 6 (10 por cento) gastrointestinais. Entre as doenças endócrinas mais comuns, observamos hipotireoidismo (36,6 por cento), seguido de osteo-porose (18,3 por cento) e hiperlipemia (11,6 por cento). As doenças otorrinolaringológicas mais comuns foram as infecçöes (otite média e amigdalite); das doenças cardiológicas, as valvulopatias (principalmente aorta bicúspide), das nefrológicas as duplicaçöes do sistema coletor e rotaçöes renais e das gastrointestinais foram observados dois casos de divertículo de Meckel. Encontramos maior prevalência de malformaçöes cardíacas nas pacientes com cariótipo 45X0, embora sem significância estatística quando considerados os demais cariótipos. Concluímos que, devido à alta ocorrência de doenças nesta síndrome, estas devem ser acompanhadas periodicamente em diferentes especialidades.
Subject(s)
Humans , Infant , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Turner Syndrome/diagnosis , Congenital Abnormalities , Endocrine System Diseases/diagnosis , Monosomy/diagnosis , Mosaicism/diagnosis , Prevalence , Retrospective StudiesABSTRACT
Nine new cases of human Dirofilariasis by Dirofilaria repens, in subjects living in Apulia, aged 30 to 60 years, are reported. Six were subcutaneous and three subconjunctival. Many of them occurred a number of years ago and were identified thanks to a specific joint investigation carried out by a parasitologist, some histopathologists and ophthalmologists. Of special relevance is one subcutaneous case with contemporary presence of 2 nodules in different regions of the body (mamma and forearm) and another subconjuctival case with strong inflammatory reaction (episcleritis, chemosis, orbital cellulitis) associated with the passage of the nematode under the Tenon's capsule.
Subject(s)
Dirofilariasis/parasitology , Adult , Animals , Dirofilaria/anatomy & histology , Female , Humans , Italy , Male , Middle AgedSubject(s)
Hemangioma/pathology , Leiomyoma/pathology , Soft Tissue Neoplasms/pathology , Adult , Aged , Biomarkers, Tumor/analysis , Diagnosis, Differential , Female , Hemangioma/chemistry , Hemangioma/diagnosis , Hemangiosarcoma/diagnosis , Humans , Leiomyoma/chemistry , Leiomyoma/diagnosis , Leiomyosarcoma/diagnosis , Male , Neoplasm Proteins/analysis , Soft Tissue Neoplasms/chemistry , Soft Tissue Neoplasms/diagnosisABSTRACT
Three cases of PSCN that developed 6-8 weeks after operations to the lower genital tract in two women, and after tooth removal in a 9-year-old boy are described. The lesions averaged 2 cm. in diameter and simulated spindle cell sarcomas because of their high mitotic rate, and marked cellularity. On follow-up (2-6 years) all patients were found to be free of disease. Immunohistochemical testing of the spindle cells showed a strong positivity for vimentin, and muscle actin and a weak, focal and inconstant positivity for F. VIII R.A., and Ulex E. The was total negativity for desmin, smooth muscle actin, S 100 Protein and Cytokeratins. We believe that these lesions represent an atypical form of granulation tissue in which the exuberant myofibroblastic component obscure the vascular elements of the lesion.
Subject(s)
Postoperative Complications/pathology , Sarcoma/pathology , Sarcoma/ultrastructure , Adult , Child , Diagnosis, Differential , Female , Follow-Up Studies , Granulation Tissue/pathology , Granuloma/diagnosis , Granuloma/pathology , Humans , Male , Middle Aged , Postoperative Complications/diagnosis , Sarcoma/diagnosisABSTRACT
A case of submucous lump of the majus labium of a 56 year old female has reported. This is a composite lesion which shows a loose connectival texture and a high cellularity with spindle cells, multivacuolated cells of irregular shape and hyperchromatic nuclei; moreover, there are characteristic multinucleated floret-like cells. This is a particular variant of Atypical Lipoma defined as Pleomorphic Lipoma by Enzinger. Despite this ominous cellularity, the lesion is perfectly benign. The small size and the superficial site are the majors elements of good prognosis. In retroperitoneal localization lesions with similar histologic presentation and of major size show more severe prognosis and are classified as Low Grade Well Differentiated Liposarcoma.
