Globotriaosylceramide (GL-3) Accumulation in the Renal Biopsy of a 1-year-old Patient with Fabry Disease and Ureteropelvic Junction Obstruction.

Introduction: Fabry disease is a x-chromosome hereditary disease with an incidence of 1/40000 newborns. Nowadays it presents as much in males as in females and its first clinical symptoms are seen in pediatric patients. Patients have reduced or no activity of alpha-galactosidase which leads to progressive accumulation of GL-3 in lysosomes of all types of cells. This early deposition disrupts lysosomal function, leading to cell death, metabolic problems, vascular lesions, endothelial dysfunction, oxidative stress, alterations in autophagy tissue ischemia, and finally producing fibrosis in different tissues. On the other hand, ureteropelvic junction obstruction (UPJO) is the most frequent congenital anomaly of the urinary tract; with an incidence of 1 in 1000-2000 newborns. A patient with antenatal diagnosis of Fabry disease and pre-natal diagnosis of UPJ is described. GL-3 deposits were found in all progeny of renal cells in the surgical biopsy. Patient Report: Prenatal diagnosis of FD and severe left hydronephrosis (left renal pelvis 23 mm) He was born at term with adequate weight. Enzymatic activity of Alpha-Gal A was low and the molecular analysis confirmed the family’s mutation. Pyeloplasty was performed when he was 17 months old and, having obtained informed consent, a small piece of kidney was studied, showing evidence of characteristic GL-3 deposits in all cell types and showed podocyte “effacement”, a marker of injury and stress. Conclusion: We demonstrate in this report that the deposits that lead to the sequence of a series of inflammation and fibrosis are present at a very early age. Based upon this finding, one can speculate about the prevention of late lesions with an early start of enzyme replacement therapy (ERT). Long term follow-up studies will be necessary to confirm this hypothesis.

Ocorrência de Bacillus cereus em leite integral e capacidade enterotoxigênica das cepas isoladas / Occurrence of Bacillus cereus in Whole milk and enterotoxigenic potential of the isolated strains

Pesquisaram-se a presença de Bacillus cereus e a produção de enterotoxinas produzidas por esses microrganismos em 120 amostras de diversos tipos de leite. Bacillus cereus foi isolado e identificado em 22 (73,3 por cento), 15 (50,0 por cento), 29 (96,7 por cento) e quatro (13,3 por cento) amostras de leite em pó, cru, pasteurizado e UAT (longa vida), respectivamente. Para a detecção de enterotoxinas pela técnica da alça ligada de coelho, foram positivos, respectivamente, três (13,6 por cento), um (7,1 por cento) e 10 (35,7 por cento) microrganismos isolados das amostras de leite em pó, leite cru e leite pasteurizado. Pelo teste de aumento de permeabilidade vascular, dois (9,1 por cento), um (7,1 por cento), um (3,6 por cento) e um (4,0 por cento) microrganismos isolados de leite em pó, cru, pasteurizado e UAT apresentaram-se enterotoxigênicos, respectivamente. O uso da técnica de aglutinação passiva em látex demonstrou a produção da toxina diarréica por três (33,3 por cento), sete (63,6 por cento), quatro (30,8 por cento) e oito (80,0 por cento) microrganismos isolados, respectivamente, de leite em pó, cru, pasteurizado e UAT. Os resultados indicam um risco potencial, podendo colocar em risco a saúde dos consumidores desses produtos

A hundred and twenty samples of different types of milk were examined to the presence of Bacillus cereus and the enterotoxigenic potential of the isolated strains. Bacillus cereus was isolated and identified in 22 (73.0 percent), 15 (50.0 percent), 29 (96.7 percent) and four (13.3 percent) samples of powder, raw, pasteurized and UHT milk, respectively. The enterotoxigenicity detection using the rabbit ileal loop assay showed positive, respectively, three (13.6 percent), one (7.1 percent) and 10 (35.7 percent) isolated strains from powder, raw and pasteurized milk. Using vascular permeability activity assay two (9.1 percent), one (7.1 percent), one (3.6 percent) and one (4.0 percent) isolated strains from powder, raw, pasteurized and UHT milk were positive, respectively. The reversed passive latex agglutination test showed diarrheal toxin production by three (33.3 percent), seven (63.6 percent), four (30.8 percent) and eight (80.0 percent) strains isolated from, respectively, powder, raw, pasteurized and UHT milk. Those results indicated a potential hazard and may put in risk the health of the consumers of these products

Plasmocitoma ganglionar primario y otras infiltraciones plasmocitarias ganglionares / Extramedullary plasmocytoma and other lymph node plasmocytomas

Se presenta un paciente de 48 años, portador de Plasmocitoma extramedular ganglionar primario (PEGP) inguinal con los propósitos de alertar sobre esta forma inusual de neoplasia de células plasmáticas y de revisar las diferencias existentes con otras infiltraciones plasmocitarias ganglionares.

Microrganismos heterotróficos mesófilos e bactérias do grupo do Bacillus cereus em leite integral submetido a ultra alta temperatura / Mesophilic heterotrophic microorganisms and spore forming bacteria from Bacillus cereus group in ultra high temperature milk

Cento e dez amostras de 11 diferentes marcas de leite ultra alta temperatura (UAT), comercializadas em São José do Rio Preto - SP, foram submetidas à contagem de microrganismos heterotróficos mesófilos viáveis e à pesquisa de bactérias do grupo do Bacillus cereus. A população de microrganismos mesófilos variou de <1,0 10² UFC/ml a >1,0 10(6) UFC/ml. Bactérias do grupo do Bacillus cereus foram verificadas em 13 (11,8 por cento) amostras. Os resultados evidenciaram elevada população de microrganismos indicadores mesófilos.

Calcifilaxia en tres pacientes con insuficiencia renal terminal / Calciphilaxis in thre patients with end stage renal disease

Calcifilaxia es una afección poco frecuente y grave que afecta casi exclusivamente a pacientes con enfermedad renal terminal y se caracteriza por presentar necrosis cutáneas que evoluciona e4n un alto porcentaje a la muerte por sepsis. En todos los casos se observa estrechamiento y oclusión de arterias y arteriolas con calcificación intramural, con ó sin fibrosis de la intima y formación de trombos en venúlas y arteriolas de pequeño y mediano calibre. Su etiología es incierta y las terapeúticas instituidas hasta el momento insatisfactorias

Evolucion de parametros bioquimicos e histopatologicos en la sobredosis con paracetamol durante la colestasis experimental / Development of biochemical and histopathological parameters in paracetamol overdose in experimental cholestasis

En este trabajo se estudia el efecto de la intoxicación aguda con paracetamol (P) en ratas colestáticas. Se tomaron 4 grupos de ratas: controles, controles intoxicadas con P, controles colestáticas y colestáticas intoxicadas con P. Para todos los grupos se realizaron test de bioquímica hepática e histopatología del hígado. Se concluye que las ratas colestáticas sufren menor daño hepático cuando se las somete a intoxicación con P que sus respectivos controles

Síndrome iridiocórneo endotelial / Endotelial iridocorneal syndrome

Se presentan tres casos de Síndrome irido córneo endotelial (ICE) que engloba tres formas clínicas hasta ahora descriptas por separado: la atrofia esencial del iris, el síndrome de Chandler y el síndrome iris-nevo de Cogan Reese. Se presentan informes de Anatomía patológica con microscopía óptica y electrónica (en un caso) y una amplia bibliografía