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Biomedical subjects

J M Sanchez

Publications and source records attributed to J M Sanchez.

22 records · Page 2Linked to original sources

Fetal phenotype in a case of partial trisomy 21 and partial monosomy 22 detected prenatally.

Prenatal diagnosis was performed in a woman whose previous pregnancy resulted in a girl with probable Down syndrome who died soon after delivery. The mother was found to be a carrier of a reciprocal balanced translocation between chromosomes 21 and 22, and the fetus was found to have an unbalanced translocation involving chromosomes 21 and 22: 46,XX, -22, +t(21;22)(q22;q11)(21 pter leads to 21q22::22q11 leads to 22qter). Despite partial monosomy for the proximal segment of 22 and trisomy for proximal 21, the fetus did not have gross external abnormalities, but several internal malformations were found. To our knowledge, this is the first time that this unbalanced karyotype has been described.

Abnormalities, Multiple↗

Intrathoracic alimentary tract duplication cysts treated in utero by thoracoamniotic shunting.

Alimentary tract duplication cysts are rarely diagnosed in utero. We report two fetal patients that presented with intrathoracic alimentary tract duplication cysts, mediastinal shift and hydrops. In one fetus, the cyst continued into the fetal abdomen and pelvis through a left diaphragmatic hernia. Despite successful ultrasound-guided needle aspirations in both fetuses, there was rapid reaccumulation of the fluid and recurrence of the mediastinal shift, prompting the placement of a thoracoamniotic shunt. In one fetus, there was rapid resolution of the mediastinal shift with the disappearance of the hydrops within 2 weeks. The second fetus suffered an intrauterine demise 2 days after the shunt placement. Postnatal resection in the surviving infant revealed a large cyst consistent with an intrathoracic duplication of the stomach. The autopsy of the second fetus revealed an intrathoracic duplication cyst of the stomach and proximal small intestine.

Adult↗

Air pollution and mortality: results from a study of Santiago, Chile.

In 1986, the U.S. EPA issued an air quality standard for particulate matter that included only particulates below 10 microns in diameter (PM10). Unfortunately, epidemiological research investigating the health effects associated with PM10 has been limited by the lack of available daily data from outdoor monitoring stations. Evidence of high concentrations of PM10 in Eastern Europe and in metropolitan areas such as Mexico City and Santiago, Chile underscores the need to evaluate the association between air pollution and mortality. Over the last few years, daily measures of ambient PM10 have been collected in Santiago. Our analysis examines the relationship between PM10 and daily mortality between 1989 and 1991. In addition to total daily mortality, the data were compiled to record total mortality for all males, all females, and those over 65, and mortality from either respiratory disease or cardiovascular disease. Multiple regression analysis was used to explain mortality, with particular attention to controlling for the influence of season and temperature. The results suggest a strong association between PM10 and all of the alternative measures of mortality. The association persists after controlling for daily minimum temperature and binary variables indicating temperature extremes, the day of the week, the month, and the year. Additional sensitivity analyses suggest a fairly robust relationship. In general, a 10 micrograms/m3 change in daily PM10 was associated with a 1% increase in mortality. This relative risk is consistent with the results of recent studies undertaken in the United States.

Air Pollutants↗