Tratamiento con fomepizol de una intoxicación aguda por metanol / Treatment of acute methanol poisoning with fomepizole

La intoxicación por metanol puede causar alteraciones del equilibrio ácido-base, trastornos Oculares y disfunción neurológica que pueden llevar a la muerte o a generar secuelas graves. El tratamiento específico consiste en la aplicación de antídotos que impidan que la enzima alcohol deshidrogenasa (ADH) metabolice el metanol; tradicionalmente se ha utilizado el alcohol etílico para este objetivo, pero recientemente se ha introducido el fomepizol, un fármaco capaz de inhibir la ADH. Se presenta el primer paciente tratado en España con este fármaco. Se trata de un hombre de 59 años con antecedentes de alcoholismo crónico, que ingresó en el Servicio de Urgencias por una alteración del estado de conciencia, y en el que se detectó una severa acidosis metabólica, manifestando en el interrogatorio la ingesta en las horas previas de unos 50 mL de "alcohol de quemar". La concentración de metanol en suero fue de 0,24 g/l. Se inició tratamiento con bicarbonato sódico y fomepizol a una dosis de 1-5-mg/kg, con buena tolerancia y sin reaparición de ia acidosis. Se objetivó una disminución de la agudeza visual, aunque en el fondo de ojo inicial sólo se apreció una pequeña hemorragia en astilla parapapilar derecha compatible con una neuropatía de carácter tóxico, y que ha sido su única secuela (AU)

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Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families.

We report the genetic characterization of one family with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) type 1 and two families with BPES type 2 from a historically isolated population in northwest Colombia. Linkage and haplotype analyses indicate that BPES in these families is linked to 3q23. Mutation screening of FOXL2 in the family with BPES type 1 revealed a novel 394C --> T nonsense mutation which deletes the forkhead DNA binding domain. The two families with BPES type 2 both carry an in-frame 30 bp duplication that leads to the elongation of a polyalanine tract. This duplication has been previously reported in Europe, where recurrent mutation has been demonstrated in unrelated familial and sporadic BPES cases. The recurrent nature of this duplication seems to relate to the secondary structure of this DNA region. The genotype-phenotype correlation seen in the Colombian families is consistent with the recent proposal that BPES type 1 is caused by truncating mutations leading to haploinsufficiency, while BPES type 2 is due to mutations generating elongated protein products.

Primitive peripheral neuroectodermal tumors Mayagüez Medical Center experience.

Primitive neuroectodermal or neuroepithelial tumors are names used to describe neoplasias composed of undifferentiated cells resembling germinal cells of the embryonic neural tube. These tumors are small round cell malignancies of the neural crest origin arising outside the central and sympathetic nervous system. They are described as peripheral and central neuroectodermal tumors related to the original malignant cell. A great number of tumors are described under this classification in spite of the fact that there is no an universal acceptance that these small-cell neoplasms, regardless of their primary site, are derived from immature neuroectoderm tissue. Because one tumor resembles others in terms of its phenotypic expression, multiple specific studies such as clinical profile, ultrastructural, immunocytochemical, and cytogenetic features should be studied, since no single clinical or laboratory marker is by itself diagnostic. However, there is a chromosomal reciprocal translocation, t(11;22)(q24;q12), which is unique to Primitive Neuroectodermal Tumor (PNET).

Solid and papillary neoplasm of the pancreas: a case presentation.

Solid and papillary tumors of the pancreas are very rare malignancies, more commonly occurring in young women. They usually present as asymptomatic, large abdominal masses, and different from the most common neoplasm of the pancreas, which is the adenocarcinoma, these tumors have a high percentage of curability when treated by complete surgical resection. (6) For this reason, when the diagnosis of Frantz's tumor is made or strongly suspected, every attempt should be made for complete surgical excision since curability is high and radiotherapy and, or chemotherapy are of no use for its treatment.

Solid and papillary neoplasm of the pancreas: a case presentation

Solid and papillary tumors of the pancreas are very rare malignancies, more commonly occurring in young women. They usually present as asymptomatic, large abdominal masses, and different from the most common neoplasm of the pancreas, which is the adenocarcinoma, these tumors have a high percentage of curability when treated by complete surgical resection. (6) For this reason, when the diagnosis of Frantz's tumor is made or strongly suspected, every attempt should be made for complete surgical excision since curability is high and radiotherapy and, or chemotherapy are of no use for its treatment

Primitive peripheral neuroectodermal tumors Mayagüez Medical Center experience

Primitive neuroectodermal or neuroepithelial tumors are names used to describe neoplasias composed of undifferentiated cells resembling germinal cells of the embryonic neural tube. These tumors are small round cell malignancies of the neural crest origin arising outside the central and sympathetic nervous system. They are described as peripheral and central neuroectodermal tumors related to the original malignant cell. A great number of tumors are described under this classification in spite of the fact that there is no an universal acceptance that these small-cell neoplasms, regardless of their primary site, are derived from immature neuroectoderm tissue. Because one tumor resembles others in terms of its phenotypic expression, multiple specific studies such as clinical profile, ultrastructural, immunocytochemical, and cytogenetic features should be studied, since no single clinical or laboratory marker is by itself diagnostic. However, there is a chromosomal reciprocal translocation, t(11;22)(q24;q12), which is unique to Primitive Neuroectodermal Tumor (PNET)

Morphological classification of facial features in adult Caucasian males based on an assessment of photographs of 50 subjects.

Fifty sets of photographs showing facial features of Caucasian males aged 18 to 60 years were examined to establish a morphological classification of the face. It is suggested that such a classification could assist facial identification by photocomparison. The selection criteria stress the importance of interassessor agreement and discrimination among feature subset units in formulating the proposed classification.

Photometric assessment of skin colour and lightness using a tristimulus colorimeter: reliability of inter and intra-investigator observations in healthy adult volunteers.

The ageing of injuries is an important aspect of forensic medicine, and one which can have significant medico-legal consequences. The sequence and timing of color changes associated with the appearance and disappearance of bruises, as well as the factors which govern this process, have long been a source of controversy. Whilst visual assessment currently remains the easiest and most practical method available to date bruises, it appears unlikely that it can be relied upon to provide an accurate and consistent measure of the age of a bruise. In an ongoing pilot study designed to assess the applicability of colorimetry to the dating of bruises, the Dr. Lange MICRO COLOR tristimulus colorimeter will be used to assess how the color and colour density (lightness) of bruises change over time. The results of a preliminary study are presented, in which the variability of skin colour measurements obtained by different investigators was assessed. Measurements were taken of the same area on the volar surface of the forearm of five volunteers, after having them remain with their arm motionless for a predetermined period of time (2, 5, and 10 min). Four sets of measurements were taken by each investigator over a total period of 3 h. No significant statistical difference was found after the resting time interval of 5 min between the values obtained by the two investigators (P > 0.05). While studies on a much larger population remain to be completed, our initial findings would seem to suggest that the colorimeter is able to provide an objective, quantitative, and relatively consistent measure of skin colour when used by different individuals.

Evaluation of hypostasis using a colorimeter measuring system and its application to assessment of the post-mortem interval (time of death).

Hypostasis was measured in 93 cadavers using a tristimulus colorimeter in order to investigate its relationship with the time of death. The intensity (lightness) of the hypostasis in each case was measured over a period of 4 h and the rate of change in lightness derived. When examined against the time of death, it was found that there was a good correlation between the two. Namely, that the rate of change of lightness (and it can be inferred that this represents displaceability) decreases as the post-mortem period increases. The shift in hypostasis was particularly marked in the first 12 h and decreased thereafter. However, hypostasis could be useful for time of death estimation for up to 48 h. After this time, the degree of change was small or non-existent and by 72 h hypostasis had become fixed in the majority of cases, within our measuring period of 4 h.