ABSTRACT
DiGeorge syndrome is a disorder caused by a microdeletion on the long arm of chromosome 22. Approximately 1% of patients diagnosed with DiGeorge syndrome may have an absence of a functional thymus, which characterizes the complete form of the syndrome. These patients require urgent treatment to reconstitute T cell immunity. Thymus transplantation is a promising investigational procedure for reconstitution of thymic function in infants with congenital athymia. Here, we demonstrate a possible optimization of the preparation of thymus slices for transplantation through prior depletion of thymocytes and leukocyte cell lineages followed by cryopreservation with cryoprotective media (5% dextran FP 40, 5% Me2SO, and 5% FBS) while preserving tissue architecture. Thymus fragments were stored in liquid nitrogen at -196°C for 30 days or one year. The tissue architecture of the fragments was preserved, including the distinction between medullary thymic epithelial cells (TECs), cortical TECs, and Hassall bodies. Moreover, depleted thymus fragments cryopreserved for one year were recolonized by intrathymic injections of 3×106 thymocytes per mL, demonstrating the capability of these fragments to support T cell development. Thus, this technique opens up the possibility of freezing and storing large volumes of thymus tissue for immediate transplantation into patients with DiGeorge syndrome or atypical (Omenn-like) phenotype.
ABSTRACT
Mutations of the tumor suppressor gene p53 have been considered to be important determinants in several kinds of human cancer. Accumulation of p53 protein has been reported to correlate with more aggressive clinical behavior in some neoplasms. The role of p53 expression in adrenal cortical tumors (ACT) has not been elucidated but some studies have suggested its correlation with malignant behavior. Our objective was to determine if there is a correlation between the expression of immunoreactive p53 and the biological behavior of ACT. Fifty-seven ACT (21 from children and 36 from adults) were evaluated for p53 expression by immunohistochemistry in formalin-fixed paraffin-embedded tissue and analyzed in terms of outcome. The p53 parameter was utilized semiquantitatively. Tumors were classified as p53 negative when no positivity was observed, or when only few cells showed weak positivity (0/1+) and scored as p53 positive when there was a diffuse and strong nuclear positivity (2+/3+). In children, p53 positivity was associated with clinically malignant ACT and p53 negativity was associated with clinically benign ACT (P = 0.026). In adults' ACT, p53 positivity had an effect on disease-free survival (P<0.001) and also correlated with Weiss score, with a cutoff = 4 (P = 0.04). p53 expression was related to the clinical behavior of ACT in both children and adults and these findings seem to support a role for p53 in ACT progression
Subject(s)
Humans , Child , Adolescent , Adult , Adrenal Cortex Neoplasms , Biomarkers, Tumor , Genes, p53 , Tumor Suppressor Protein p53 , Adrenal Cortex Neoplasms , Biomarkers, Tumor , Disease-Free Survival , Gene Expression Regulation, Neoplastic , Immunohistochemistry , Mutation , Prognosis , Tumor Suppressor Protein p53ABSTRACT
Sao discutidos sete casos de tumor renal na infancia com compromentimento osseo importante, tendo sido os seis primeiros casos ja submetidos a publicacao previa. Essas neoplasias haviam sido anteriormente classificadas como tumores de Wilms de caracteristicas atipicas. A revisao histologica, feita a luz dos novos conceitos, reclassificou-as como: tumor renal da infancia metastatizante para osso - TRIMO (tres casos), rabdomiossarcoma (um caso), sarcoma indiferenciado (dois casos) e neoplasia maligna indiferenciada (um caso)
Subject(s)
Infant , Child, Preschool , Adolescent , Humans , Male , Female , Kidney Neoplasms , Neoplasm Metastasis , Wilms TumorABSTRACT
Os autores apresentam um caso de difteria em crianca de tres anos de idade, aparentemente nao vacinada. Sao apresentados dados epidemiologicos referentes a essa doenca validos para o Estado de Sao Paulo, bem como, sao feitas consideracoes quanto ao estado imunitario de crianca vacinada
Subject(s)
Child, Preschool , Humans , Female , Diphtheria , VaccinationABSTRACT
Apresenta-se um caso de trombose de veia renal em recem-nascido possivelmente filho de mae diabetica internado com 6 dias de idade.O peso de nascimento foi 5.600g. O paciente foi admitido em pessimo estado geral, sendo submetido a exsanguineotransfusao. Quatro horas apos a internacao constatou-se convulsao generalizada controlada com diazepinico. Faleceu 16 horas apos a admissao, com sangramentos multiplos. A autopsia revelou trombose venosa renal bilateral recente, com enfartos hemorragicos, tromboembolias e hematomas, bem como broncopneumonia bilateral e impetigo.Sao discutidos os principais dados clinicos da trombose de veia renal em recem-nascidos
Subject(s)
Infant, Newborn , Humans , Male , Infant, Newborn, Diseases , Renal Veins , ThrombosisABSTRACT
Os autores descrevem o caso de uma crianca de 3 anos e 8 meses de idade com sinais e sintomas de hipertensao portal. A necropsia revelou ser a causa uma doenca veno-oclusiva hepatica com comprometimentos, em extensao, das veias supra-hepaticas. A crianca faleceu 7 meses apos a internacao. E comentado o diagnostico diferencial com a Sindrome de Budd-Chiari, bem como os aspectos rediologicos dos quadros com hipertensao portal
Subject(s)
Child, Preschool , Humans , Female , Budd-Chiari Syndrome , Hypertension, PortalABSTRACT
Os autores relatam o caso de um recem-nascido admitido no Instituto da Crianca com os diagnosticos de broncopneumonia e insuficiencia cardiaca congestiva. Medicado basicamente em digitalicos, diureticos, antibioticos e oxigenio. Apos um curto periodo de melhora, o paciente veio a falecer. O diagnostico anatomo-patologico foi arteriopatia calcificante idiopatica na infancia, comprometendo multiplas arterias, incluindo coronarias, do que resultaram infartos do miocardio