Overview of recurrent chromosomal losses in retinoblastoma detected by low coverage next generation sequencing.

Genes are frequently lost or gained in malignant tumors and the analysis of these changes can be informative about the underlying tumor biology. Retinoblastoma is a pediatric intraocular malignancy, and since deletions in chromosome 13 have been described in this tumor, we performed genome wide sequencing with the Illumina platform to test whether recurrent losses could be detected in low coverage data from DNA pools of Rb cases. An in silico reference profile for each pool was created from the human genome sequence GRCh37p5; a chromosome integrity score and a graphics 40 Kb window analysis approach, allowed us to identify with high resolution previously reported non random recurrent losses in all chromosomes of these tumors. We also found a pattern of gains and losses associated to clear and dark cytogenetic bands respectively. We further analyze a pool of medulloblastoma and found a more stable genomic profile and previously reported losses in this tumor. This approach facilitates identification of recurrent deletions from many patients that may be biological relevant for tumor development.

[Allergic fungal sinusitis: recent developments]. / Sinusitis alérgica micótica: conceptos actuales.

Allergic fungal sinusitis is a recently reported disease of the nose and paranasal sinuses. Since the first reports by Lamb et al and Katzenstein there has been controversy about its diagnosis and treatment. Recently diagnostic criteria have been suggested. To our judgement they have a high degree of specificity. Allergy to fungi elements is essential. Currently surgical treatment consist in an adequate ventilation of the nose and paranasal sinuses followed by the use of oral and topical steroids. Immunotherapy is controversial and more prospective studies are needed to evaluate its possible use.

[Central nervous system pathology in children with AIDS]. / Patología del sistema nervioso central en niños con síndrome de inmunodeficiencia adquirida.

The neuropathological manifestations of AIDS in children vary widely and includes, among others: cerebral atrophy, basal ganglia calcification, corticospinal tract demyelinization, and HIV encephalomyelitis with multinucleated cells. The purpose of this work is to inform the postmortem CNS findings in 14 pediatric AIDS patients which were studied from January 1986 to February 1992, at the Hospital Infantil de México Federico Gómez. Basal ganglia vascular calcification, HIV multinucleated cells, and corticospinal tract demyelinization, were significantly less frequent (P < 0.01) in our patients than those informed in the literature. Opportunistic CNS infections found in our patients were produced by microorganisms commonly described in adults. We think that these differences may be explained because the majority of our patients acquired the infection trough blood transfusion at an age in which the CNS is fully developed. The pattern of HIV transmission in our country has been changing recently with an increase in the number of perinatal cases. We also think that in the near future we will observe a change in the neuropathological findings of our pediatric AIDS population.

[Coronary arteriopathy associated with cardiomyopathy in an adolescent with AIDS]. / Arteriopatía coronaria asociada a cardiomiopatía en un adolescente con síndrome de inmunodeficiencia adquirida.

The purpose of this paper is to inform the case of a 15 years old male patient who died as a consequence of acquired immunodeficiency syndrome (AIDS) complications. The postmortem examination showed a coronary lesion which, to the best of our knowledge, has not been previously described. This vasculopathy was restricted to the coronary arteries; myocardial changes similar to those described in AIDS-associated dilated cardiomyopathy were also present. The coronariopathy was indistinguishable from that described in the blood vessels of the brain in patients with AIDS-related cerebral arteriopathy. We also reviewed the autopsy material from another 14 children who died of AIDS, an in none of them exhibited similar changes in the coronary arteries. In addition we present the clinical findings and some theoretical considerations regarding the pathogenesis of the lesions.