Myoclonic Epilepsy with Ragged-red Fibers (MERRF): An Immunohistochemical Study of the Brain

Myoclonic epilepsy with ragged-red fibers (MERRF) is a maternally inherited disorder of oxidative phos-phorylation due to specific point mutations within the mitochondrial tRNA^Lvs gene. Mitochondrial dysfunction in the central nervous system (CNS) of patients with MERRF accounts for the neurological manifestations of the disease. Antibodies against subunits of complex I, III, IV and V of the respiratory chain were used to study the expression of these proteins in the frontal cortex, cerebellum and medulla from an autoptic case of MERRF. We found a selective decreased expression of subunit II of cytochrome c oxidase (COX-II) in these regions. Immunohistochemical abnormalities were more widespread than the lesions described by traditional histopathological techniques and made possible an attempt of explanation for the neurological symptoms of the patient.     

Bronchiolitis obliterans-organizing pneumonia (BOOP) containing asbestos bodies: clinico-pathological study of a case]

We describe a case of bronchiolitis obliterans-organizing pneumonia (BOOP) with asbestos bodies. A 65-year-old man, treated in the past for gastric lymphoma and with an history of asbestos exposure, presented with fever and two nodular opacities in the lower lobe of the left lung. Histologic examination revealed a BOOP pattern; in the inflammatory tissue some asbestos bodies were present. Patients exposed to asbestos may rarely present with localized inflammatory pulmonary lesions. In these cases, the possible etiopathogenetic role of asbestos needs further studies.     

A novel mutation of varicella-zoster virus associated to fatal hepatitis.

BACKGROUND: Lethal varicella in immunocompetent hosts is rare and its pathogenesis is largely unknown. The discovery of glycoprotein E (gE) mutants showing attributes consistent with increased virulence in vitro and in animal models, provided a possible molecular mechanism underlying a more aggressive virus infection. However, these mutants have never been associated with unusually severe clinical cases. OBJECTIVES: To varicella-zoster virus (VZV) mutations that correlate with increased virulence. RESULTS: We report a case of fatal hepatitis caused by a VZV bearing a novel mutation on the 3B3 monoclonal antibody epitope of gE in an immunocompetent host. CONCLUSIONS: This report describes a mutant VZV responsible for an aggressive clinical course in an immunocompetent host. Linking these severe clinical presentations of VZV infection to virus mutations might provide insights into the underlying pathogenic mechanisms.     

Distribution of cerebral atrophy assessed by magnetic resonance imaging reflects patterns of neuropsychological deficits in Alzheimer's dementia

Neuropsychological deficits were investigated with respect to regional distribution of cerebral atrophy as assessed by volumetric magnetic resonance imaging (MRI) in 50 patients with Alzheimer's dementia (AD; NINCDS-ADRDA criteria) and 20 healthy volunteers. When compared between groups, test performance of all investigated neuropsychological domains including declarative memory, language, praxia, psychomotor speed, as well as attention and concentration was significantly impaired. These deficits were differentially correlated with regional atrophic changes. In particular, volumes of the right amygdala-hippocampus complex correlated with declarative memory performance, whereas volumes of the left temporo-parietal regions correlated with performance in naming and praxia. Furthermore, left frontal lobe atrophy was associated with verbal fluency. Our data confirm the central role that medial temporal atrophy plays for declarative memory deficits in AD and indicate that additional changes in the parietal, temporal and frontal lobes are responsible for further neuropsychological deficits characteristic of this disorder.     

Interphase fluorescence in situ hybridization analysis of del(11)(q23) and del(17)(p13) in chronic lymphocytic leukemia. a study of 40 early-onset patients

Although B-cell chronic lymphocytic leukemia (B-CLL) is the most common form of leukemia in Western countries, little is known about its underlying molecular abnormalities and their prognostic significance, particularly for use in early therapeutic interventions in young patients. As TP53 tumor suppressor gene abnormalities and 11q23 deletions are reported to be prognostically adverse in hematologic malignancies, we used interphase fluorescence in situ hybridization to analyze their incidence and prognostic significance in young B-CLL patients. Bone marrow samples from 40 untreated B-CLL patients at diagnosis were studied using five yeast artificial chromosome clones from the 11q23.1 approximately q23.3 chromosomal region and a probe specific for the 17p13.1 locus. Twenty-three patients (58%) carried 11q deletions. Interestingly, 16 of 17 patients (94%) who showed early disease progression exhibited this chromosomal abnormality, suggesting that 11q deletions may help to identify more aggressive disease in early stage patients. In contrast, monoallelic TP53 deletions were found in all of the patients. The TP53 and 11q deletions were only present in a proportion of the clonal B-cells, which suggests that they are secondary events in B-CLL.     

Small-scale field trial of a sensing device for detecting peridomestic populations of Triatoma infestans (Hemiptera: Reduviidae) in northwestern Argentina

Two prototypes of sensing devices for detecting peridomestic populations of Triatoma infestans Klug were tested in paired trials with bamboo canes in Amamá and nearby rural villages under triatomine surveillance. In infested peridomestic structures housing domestic animals, 1-2 pairs of numbered devices were placed per test site, left for 3-9 nights, and inspected for evidence of infestation. Prototype A was a black plastic cylinder 19 cm high and 10 cm diameter, with a screw cap on the top, 2 openings in the bottom, and a removable central structure made of resistant plastic coated with leather. Prototype B had square leather pieces rolled into cylinders instead of the central structure. Prototype A was significantly more sensitive than the bamboo cane with pleated paper inside in 13 test sites in which 20 pairs were tried. In a smaller series involving 7 pairs, prototype B also detected infestations more frequently than the cane. Triatomine feces were the signs most frequently recorded by both prototypes, whereas the bamboo canes recorded no feces. Ten T. infestans and 1 Triatoma guasayana Wygodzinsky & Avalos were collected from the prototypes placed on the ground or walls, not beneath the thatched roofs of the animal shelters, whereas only 3 T. infestans were collected from the canes. This study describes an effective sensing device for detecting T. infestans populations in outdoor animal shelters and provides quantitative field data on its performance.     

The detection of monocytes in human glomerulonephritis

Renal biopsy specimens from 343 patients with primary or secondary glomerulonephritis (GN) were examined for monocytes by the non-specific esterase reaction. Large numbers of monocytes per glomerulus (M/G) were found in essential cryoglobulinemia GN (29 pts, M/G 30.6 +/- 22.4), in acute post-infectious GN (27 pts, M/G 9.1 +/- 8.3), in rapidly progressive crescentic GN (20 pts, M/G 5.6 +/- 2.7), in systemic lupus GN (61 pts, M/G 5.0 +/- 5.6), and in IgA-GN associated with chronic liver disease (5 pts, M/G 6.4 +/- 5.9) or Sch?nlein-Henoch purpura (15 pts, M/G 3.3 +/- 6.4). Clinico-histological correlation showed that monocyte infiltration was correlated with the extent of proteinuria (all groups), with the presence of endoluminal "thrombi" (cryoglobulinemia GN), of polymorphonuclear leukocyte infiltration (post-infectious GN), of cellular crescents (crescentic GN), of "active" lesions (lupus GN), and with the extension of lesions to the peripheral capillary walls (IgA-associated GN). The M/G index was negligible in renal amyloidosis (21 pts), in idiopathic membranoproliferative GN (10 pts), in idiopathic IgA mesangial GN (63 pts), in membranous GN (40 pts), in focal glomerulosclerosis (29 pts), in minimal change nephropathy (18 pts), and in diabetic glomerulosclerosis (5 pts). The results confirm the participation of cells of the monocyte-macrophage series in the genesis of proliferative lesions, both intracapillary and extracapillary, in immune-mediated human GN and suggest their direct involvement in glomerular injury.     

The ultrasonic detection of insulinomas during surgical exploration of the pancreas

The sensitivity of preoperative imaging was evaluated for the localization of insulinomas in 2 series of 54 and 17 patients, respectively. In the first series, diagnosis was obtained with ultrasonography (US) in 14.8%, with computed tomographic (CT) scan in 60%, and with arteriography and/or angio CT scan in 75% of patients. In the second series, US, CT scan, and arteriography were performed preoperatively showing a sensitivity of 53% of one or more of the imaging techniques. The last 17 patients all underwent intraoperative pancreatosonography, and the insulinoma was localized in each. Considering the high reliability of intraoperative ultrasonography, and the high costs and low benefits of other current diagnostic techniques, a new management plan is suggested for patients with a definite laboratory diagnosis of insulinoma.

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Resumen La sensibilidad de la imagenología preoperatoria para la localización de insulinomas fue evaluada en 2 series de 54 y 17 pacientes respectivamente. En la primera serie, el diagnóstico fue logrado con ultrasonografía en 14.8%, con escanografía computadorizada en 60%, y con arteriografía y/o angiografía con escanografía computadorizada en 75% de los casos. En la segunda serie, la ultrasonografía, la escanografía computadorizada, y la arteriografía fueron realizadas preoperatoriamente demostrando una sensibilidad de 53% en una o más de las técnicas de imagenología. En los últimos 17 pacientes se realizó pancreatosonografía, la cual permitió la localización del tumor en 100% de los casos.En consideración a la elevada confiabilidad de la ultrasonografía intraoperatoria, y los altos costos y bajo rendimiento de las técnicas corrientes de diagnóstico, se sugiere un nuevo plan de manejo para pacientes con un diagnóstico de laboratorio certero de insulinoma. Se fundamenta en la localización ultrasonográfica intraoperatoria del tumor, la cual puede ser aplicada en los más comprensivos centras médicos.

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Résumé La sensibilité de l'imagerie pré-opératoire permettant la localisation des insulinomes a été étudiée dans 2 séries de 54 et 17 sujects. Dans la première série le diagnostic fut posé par l'échographie dans 14.8% des cas, par la tomodensitométrie dans 60% des cas, par l'artériographie et/ou l'angiotomodensitométrie dans 75% des cas. Dans la seconde série, l'échographie, la tomodensitométrie et l'artériographie furent pratiquées avant l'intervention avec une sensibilité de 53% pour l'une ou pour plusieurs techniques. Chez les 17 derniers malades l'échographie opératoire fut systématiquement pratiquée et permit la localisation de la tumeur dans 100% des cas.Considérant la haute fiabilité de l'échographie opératoire, le coût élevé et les faibles résultats des autres techniques de diagnostic, un nouveau plan d'investigation est proposé pour explorer les malades qui présentèrent certains signes biologiques d'insulinome. Il repose sur la localisation per-opératoire de la tumeur par l'échographie, méthode qui peut être pratiquée dans des centres spécialisés.