[Eosinophils in nasal polyposis pathogenia. Bibliographic revision]. / Los eosinofilos en la patogenia de la poliposis nasal. Una revisión bibliográfica.

The aim of this work is to do a review on relations between the eosinophils and nasosinusal polyps. The etiopathogenical action of eosinophils are reviewed, from bone narrow to nasal mucosa infiltration. The mechanism of tissue eosinophilic mediated inflammation, his regulation and the significance of the balance between positive (IL-5) and negative (TGFbeta and IL10) mediators are discussed. We conclude that the degree of eosinophilic infiltration and degranulation's patterns are important aspects conditioning the severity and prognosis of chronic rhinosinusitis and nasosinusal polyps.

Los eosinofilos en la patogenia de lapoliposis nasal. Una revisión bibliográfica / Eosinophils in nasal polyposis pathogenia. Bibliographic review

El objetivo del trabajo es exponer el estado actual de los conocimientos sobre el papel del eosinófilo (Eo) en la patogenia de la poliposis nasal (PN), basándonos en una revisión bibliográfica. Mencionamos factores etiopatogénicos de la PN, y los mecanismos propuestos en las diversas fases de la infiltración eosinofílica, desde su maduración desde células progenitoras, su paso hacia la circulación general y hacia los tejidos, su activación y su eliminación. Destacamos la importancia del infiltrado eosinofílico en la patogenia de la PN. Su regulación, basada en el balance IL-5 y eotaxina (que lo inducen), y TGFBeta y IL-10 (que lo frenan). Así mismo ponemos de relieve la importancia de las formas de degranulación del eosinófilo observadas por microscopía electrónica y su posible valor tanto en el pronóstico, como en la evaluación de la acción de fármacos en la terapia de esta enfermedad

The aim of this work is to do a review on relations between the eosinophils and nasosinusal polyps. The etiopathogenical action of eosinophils are reviewed, from bone narrow to nasal mucosa infiltration. The mechanism of tissue eosinophilic mediated inflammation, bis regulation and fue significance of the balance between positive (IL-5) and negative (TGFBeta and IL-10) mediators are discussed. We conclude that the degree of eosinophilic infiltration and degranulation's patterns are important aspects conditioning the severity and prognosis of chronic rhinosinusitis and nasosinusal polyps

[Study of mucociliary transport and nasal ciliary ultrastructure in patients with Kartagener's syndrome]. / Estudio del transporte mucociliar y de la ultraestructura ciliar nasales en pacientes con síndrome de Kartagener.

OBJECTIVE: Kartagener's syndrome (KS) is a clinical variant of primary ciliary dyskinesia involving situs inversus associated with chronic airway infections. The ciliary defect associated with this syndrome is the absence of dynein arms. The aim of this study was to evaluate mucociliary transport and ciliary ultrastructure in 14 patients with KS. PATIENTS AND METHODS: We studied nasal mucociliary transport using a radioisotopic technique and ciliary ultrastructure in 14 patients with KS. RESULTS: Thirteen patients had mucociliary stasis and 1 had severely slowed transport (1.3 mm/min). Four patients (29%) had cilia with normal dynein arms, 2 patients (14%) had short inner dynein arms, and 8 patients (57.1%) had total absence of inner and outer dynein arms. CONCLUSIONS: We conclude that the typical clinical presentation, together with altered mucociliary transport as identified by an isotopic technique, is diagnostic of KS, even when the ciliary ultrastructure is normal. KS is clinically homogenous and morphologically heterogenous.

Estudio del transporte mucociliar y de la ultraestructura ciliar nasales en pacientes con síndrome de Kartagener / Study of mucociliary transport and nasal ciliary ultrastructure in patients with Kartagener's syndrome

OBJETIVO: El síndrome de Kartagener (SK) es una variante clínica de la discinesia ciliar primaria que asocia a las infecciones crónicas de las vías respiratorias un situs inversus. La ausencia de brazos de dineína ha sido el defecto ciliar asociado a este síndrome. El objeto de este trabajo es el estudio del transporte mucociliar y de la ultraestructura ciliar en 14 pacientes con SK. PACIENTES Y MÉTODOS: Hemos estudiado el transporte mucociliar nasal, mediante una técnica radioisotópica, y la ultraestructura ciliar en 14 pacientes con SK. RESULTADOS: En 13 pacientes había estasis mucociliar y en uno, un transporte muy enlentecido (1,3 mm/min). Mostraban cilios con brazos de dineína normales 4 pacientes (29%); brazos internos de dineína cortos, 2 pacientes (14%), y ausencia completa de brazos internos y externos de dineína, 8 casos (57,1%). CONCLUSIONES: Concluimos que la presentación clínica típica junto con un transporte mucociliar alterado, objetivado con una técnica isotópica, es diagnóstica del SK, aunque la ultraestructura ciliar sea normal. El SK es clínicamente homogéneo y morfológicamente heterogéneo

OBJECTIVE: Kartagener’s syndrome (KS) is a clinical variant of primary ciliary dyskinesia involving situs inversus associated with chronic airway infections. The ciliary defect associated with this syndrome is the absence of dynein arms. The aim of this study was to evaluate mucociliary transport and ciliary ultrastructure in 14 patients with KS. PATIENTS AND METHODS: We studied nasal mucociliary transport using a radioisotopic technique and ciliary ultrastructure in 14 patients with KS. RESULTS: Thirteen patients had mucociliary stasis and 1 had severely slowed transport (1.3 mm/min). Four patients (29%) had cilia with normal dynein arms, 2 patients (14%) had short inner dynein arms, and 8 patients (57.1%) had total absence of inner and outer dynein arms. CONCLUSIONS: We conclude that the typical clinical presentation, together with altered mucociliary transport as identified by an isotopic technique, is diagnostic of KS, even when the ciliary ultrastructure is normal. KS is clinically homogenous and morphologically heterogenous

Precalcaneal congenital fibrolipomatous hamartoma: a report of four cases.

Four infants had soft, skin-colored nodules in the midline plantar region of the heels since birth. The lesions were asymptomatic, bilateral, and symmetric, and measured approximately 1 cm in diameter. Their size increased in proportion to the growth of the child. In three infants the lesions persisted at 1 year of age, while in the fourth they remained at age 12 years. The nodules were not associated with any other disease or abnormality. A review of the literature revealed only one Argentinean series comprising four cases, and two communications at international pediatric congresses by French and American authors who reported five and three cases, respectively. We describe four additional cases of precalcaneal congenital fibrolipomatous hamartoma and comment on their histopathologic and ultrastructural characteristics.

[Angiosarcoma of the outer ear. A case report]. / Angiosarcoma de pabellón auricular. A propósito de un caso.

Angiosarcoma (AS) is one of the rarest forms of soft tissue neoplasm. They are considered highly aggressive tumors with a poor prognosis. They range from highly differentiated tumors resembling hemangiomas to anaplastic tumors that are difficult to distinguish from carcinomas. Clinically, the appearance of these lesions varies, so confusion may arise from an initially benign appearance. AS comprise less than 1% of all sarcomas. In these patients, tumor size is an important predictor of survival. In our case, the tumor was located in the outer ear and the patient was treated with surgery, radiotherapy (65 Gy), and chemotherapy (adriamycin). A recurrence one year later was treated with salvage surgery and external carotid artery ligature to control abundant hemorrhage.

Cytogenetic study of a spindle-cell rhabdomyosarcoma of the parotid gland.

The cytogenetic analysis of a spindle-cell rhabdomyosarcoma of the parotid gland in a 6-year-old boy is reported. The tumor cells showed an abnormal karyotype with a hypotriploid modal chromosome number and clonal structural rearrangements affecting chromosomes 1, 8, 12, 21, and 22. The tumor karyotype was: 59, XY, -1, -3, -4, -5, -6, +8, +8, +del(8)(q22q24), -9, -10, del(12)(q13), -15, -16, -17, -18, der(21)t(12;21)(p11;p11), -22, der(22)t(1;22)(q12;p11).

Cytogenetic findings in malignant mixed mesodermal tumors of the uterus.

Cytogenetic analyses of four malignant mixed mesodermal tumors (MMMT) of the uterus are reported, of which one was of the homologous type and three of the heterologous. Karyotypic analyses were obtained in two cases from original tumors and in two cases from tumors xenotransplanted into nude mice. The karyotype of the homologous MMMT was normal in three different passages of a nude mice xenograft line established from the primary tumor. The heterologous tumors showed normal karyotype in one case and hyperdiploid and near triploid range with extensive numerical and structural rearrangements in two cases. Deletion of chromosome 1 at p32, and deletion of chromosome 11 at q13 were common markers in anomalous cases. The chromosomes most often involved in structural rearrangements were chromosomes 1, 9, 11, 12, 17, and 19. Double minutes, homogeneously staining regions, and telomeric association were also seen.

Presence of double minutes and monosomy 17p in xenografted human osteosarcomas.

Cytogenetic analysis of 8 cases of xenografted human osteosarcomas are reported, including six newly diagnosed and two recurrent tumors. Histologically five were osteoblastic, two were chondroblastic, and one was the microcellular type. All tumors were studied in short-term primary cultures between two and six days. Clonal and nonclonal abnormalities were present in the eight cases; four had a chromosome number in the hypotriploid range, two in the hyperdiploid, one in the hypodiploid, and one in the hypertetraploid range. All cases had complex karyotypes and the recognizable structural rearrangements clustered to chromosome arms 1p, 1q, 3p, 5p, 6q, 11p, 13p, 14p, 15q, 16p, 16q, 20q, 21p, and 22q. Seven cases presented double monosomy 17 and six tumors showed double minutes (dmin) or a homogeneously staining region (hsr). This fact has been described recently and its relation with the amplification of the MDM2 gene observed in osteosarcomas is as yet unknown.

[Heterozygotic alpha-1 antitrypsin deficiency. A case report]. / Déficit heterozigótico de alfa-1-antitripsina. Presentación de un caso.

The clinical, analytical (including phenotypical) and histologic (optical and ultrastructural) data of a 34-years-old male patient attended for evaluation of moderate hypertransaminasemia discovered following a company screening examination. The existence of an alpha-1-antitrypsin heterozygotic deficit (MZ) was detected with flattening of the alpha wave in the proteinogram and a decreased serum level of this glycoprotein. Morpho-pathologically no PAS positive globules were optically found on liver biopsy although dilatation of the rough RE was observed with deposition in the medium electrodensity material, the significance of which is discussed on the basis of the patient's phenotype. It is suggested that serum studies of alpha-1-antitrypsin should be included in the routine evaluation of chronic liver diseases.

[Myopathy associated with infection by the human immunodeficiency virus type-1 (HIV-1)]. / Miopatía asociada a la infección por el virus de la inmunodeficiencia humana tipo-1 (VIH-1).

We present a case of an active homosexual patient who was a paid donor of plasma and presented myopathy associated to infection by the human immunodeficiency virus type 1 (HIV-1). In the ultrastructural study of the muscular biopsy, we stress the formation of central intermyofibrillary "minocores", as well as the presence of nuclear extrusions in which the core is surrounded by mitochondrial accumulations. We review the clinical, histological and ultrastructural characteristics used to identity this pathology against the group of myopathies induced by zidovudine, as well as the several empirical therapies currently recommended.

[Determination of copper in hepatic tissue for the diagnosis of Wilson's disease]. / Determinación de cobre en tejido hepático para el diagnóstico de la enfermedad de Wilson.

Three young patients had clinical data compatible with Wilson's disease (WD); all of them had high serum levels of ceruloplasmin without Kayser-Fleischer rings (K-F), the urinary copper level being very low, not supporting the Wilson's disease diagnosis. This reason was why we decided to detect the amount of copper in the liver tissue, which was very high in all patients, confirming the disease. We would comment that WD of abdominal type does not usually have the K-F rings, which made the diagnosis difficult. An algorithm is proposed to be applied in each case were WD is suspected.