Primer caso clínico de Síndrome de Pai en México / First clinical case of Pai Syndrome in México

Descrito por primera vez en 1987, el Síndrome de Pai se considera una variante rara de la displasia fronto-nasal. Consiste en el fallo del cierre de la línea media y sus signos son encéfalo-cráneo-faciales. Los hallazgos que conforman el síndrome son: la presencia de una variedad de pólipos (intranasal, cutáneos y alveolar del maxilar superior), fisura ósea y labiopalatina en la línea media, lipoma intracraneal y agenesia parcial o total del cuerpo calloso. Su causa es desconocida y su presentación esporádica. La incidencia se estima en 1 de cada 20.000 a 40.000 recién nacidos, siendo el sexo femenino el más afectado. El objetivo de este artículo es presentar el primer caso clínico documentado en México con estas características, y de acuerdo al último caso publicado en 2014 por Mee Hong, es el número 38 de la literatura mundial (AU)

Described by the first time in 1987, Pai's Syndrome is considered a rare variant of the displasia fronto-nasal. It consists of the fault of the closing of the middle line and his signs are encephalo-craneo-facial. The findings of the syndrome are the presence of a variety of polyps (intranasal, cutaneous and alveolar of the upper jaw), bony and lip-palate cleft in the middle line, intracranial lipoma and partial or total agenesia of the corpus callosum. The etiology of this syndrome is not known, and its presentation is sporadic. The incidence is estimated in 1 of every 20.000-40.000 newborn children, being the most affected feminine sex. The aim of this article is to present the first clinical case reported in Mexico with these characteristics and that in agreement to the last case published in 2014 for Mee Hong, it is number 38 of the world literature (AU)

Use of copper intrauterine devices and the risk of tubal infertility among nulligravid women.

BACKGROUND: Previous studies of intrauterine devices (IUDs), many of which are no longer in use, suggested that they might cause tubal infertility. The concern that IUDs that contain copper--currently the most commonly used type--may increase the risk of infertility in nulligravid women has limited the use of this highly effective method of birth control. METHODS: We conducted a case-control study of 1895 women recruited between 1997 and 1999. We enrolled 358 women with primary infertility who had tubal occlusion documented by hysterosalpingography, as well as 953 women with primary infertility who did not have tubal occlusion (infertile controls) and 584 primigravid women (pregnant controls). We collected information on the women's past use of contraceptives, including copper IUDs, previous sexual relationships, and history of genital tract infections. Each woman's blood was tested for antibodies to Chlamydia trachomatis. We used stratified analyses and logistic regression to assess the association between the previous use of a copper IUD and tubal occlusion. RESULTS: In analyses involving the women with tubal occlusion and the infertile controls, the odds ratio for tubal occlusion associated with the previous use of a copper IUD was 1.0 (95 percent confidence interval, 0.6 to 1.7). When the primigravid women served as the controls, the corresponding odds ratio was 0.9 (95 percent confidence interval, 0.5 to 1.6). Tubal infertility was not associated with the duration of IUD use, the reason for the removal of the IUD, or the presence or absence of gynecologic problems related to its use. The presence of antibodies to chlamydia was associated with infertility. CONCLUSIONS: The previous use of a copper IUD is not associated with an increased risk of tubal occlusion among nulligravid women whereas infection with C. trachomatis is.

Is disordered folate metabolism the basis for the genetic predisposition to neural tube defects?

Vitamin levels were measured in twenty women under 35 years of age with a history of two or more neural tube defect pregnancies. Each index case was compared with a female control matched for age, obstetric history and social class. The mean concentration of red cell folate in the subjects was 178 ng/ml, significantly lower than the mean of 268 ng/ml for the control group (P = 0.005). Red cell folate levels showed a linear relationship with the number of neural tube defect pregnancies, the levels being lowest in women who had had three or four affected offspring. There was no significant difference in serum folate; plasma or white cell vitamin C; plasma vitamin A; thiamine, riboflavine or pyridoxine status; serum vitamin B12; plasma vitamin E; total protein, albumin, transferrin, magnesium, copper or zinc. Diet was assessed by a questionnaire. The dietary intakes of total folate and other vitamins except vitamin A were lower in the subjects than the controls but none of the differences were statistically significant. Regression analysis showed a difference between subjects and controls in the relationship of red cell folate to dietary folate. This study demonstrates an association between susceptibility to offspring with neural tube defects and depressed red cell folate levels which cannot be entirely attributed to a lower dietary intake of folate. It is postulated that one factor predisposing to the occurrence of neural tube defects may be an inherited disorder of folate metabolism.