Androgen Receptor CAG Repeat Length in Relation to Phenotype Among Females with Nonclassical 21-Hydroxylase Deficiency.

Nonclassical 21-hydroxylase deficiency (NC21OHD) manifests with various degrees of post natal virilization. The length of CAG repeats of the androgen receptor gene (AR) is inversely correlated to activity of the human androgen receptor (AR) and affects phenotype of several androgen-dependent disorders. The aim of the study was to investigate the associations between CAG repeat length and the phenotype of females with NC21OHD. CAG repeat length and AR inactivation were assessed in females with NC21OHD, and related to their clinical presentation. CAG repeat length and AR inactivation were assessed in 119 females with NC21OHD. Biallelic mean (BAM) of the CAG repeat length and the weighted BAM (WBAM) were related to various clinical parameters. Age at diagnosis and age of menarche positively correlated with BAM (r=0.22, p=0.02, and r=0.23, p=0.01, respectively). A shorter (<25) BAM was associated with younger age at diagnosis (14.8 vs. 21.4 years, p<0.01), at adrenarche (8.1 vs. 10.2 years, p<0.01) and gonadarche (9.9 vs. 11.2 years, p<0.01), and higher corrected height standard deviation score at diagnosis (0.77 vs. 0.15, p=0.01). Precocious pubarche and precocious puberty were more frequent in these with the shorter BAM. Results of WBAM were similar. The CAG repeat length of the AR gene contributes to the clinical diversity of the phenotype in females with NC21OHD.

A rating system for prompt clinical diagnosis of ischemic stroke.

BACKGROUND: When a CT scan is not available, an early accurate clinical diagnosis of ischemic stroke is essential to initiate prompt therapy. Our objective was to construct a clinical index that is easy to use when stroke patients are first evaluated at the hospital, to identify those who probably are experiencing an acute ischemic episode. The study was conducted at a university-affiliated medical referral center and two community general hospitals in Mexico. METHODS: Clinical records were reviewed for 801 patients with sudden onset of a focal or global neurologic dysfunction, presumably of vascular origin lasting more than 24 h. Eligibility criteria for this study were admission to the hospital within the first 24 h after symptomatic onset, CT scan diagnosis between 24 and 72 h, and age >45 years. Ischemic stroke included cases of arterial brain infarction, while nonischemic stroke included subarachnoid or intraparenchymatous hemorrhage, mass lesion, venous infarction, and in cases without a CT scan evidence that could explain the clinical manifestations. Data excerpted for analysis were age, sex, history of diabetes mellitus or previous stroke/transient ischemic attack (TIA), time of onset of symptoms, presence of headache, vomiting, neck stiffness, hemiplegia, leukocytosis or atrial fibrillation, diastolic blood pressure, and Glasgow coma scale (GCS) rating. Two multivariable analyses were used: 1) step-wise multiple logistic regression (SMLR), and 2) conjunctive consolidation (CC). RESULTS: After appropriate exclusions, the study proceeded with 83 ischemic and 42 nonischemic stroke patients. With SMLR, six variables were selected as predictive for ischemic stroke, including neck stiffness, diastolic blood pressure, previous history of stroke/TIA, hemiplegia, GCS, and atrial fibrillation. An appropriate sum of weighted ratings had a positive predictive value (PPV) of 100% for ischemic stroke. With consolidated categories, the PPV was 97% when patients had the following: no neck stiffness; no atrial fibrillation but history of stroke/TIA and GCS > or =12, or no neck stiffness but atrial fibrillation. CONCLUSIONS: Among patients with acute stroke, clinical data can be used to identify a group with a high probability of ischemic stroke. There are slightly different results between both methods; while SMLR includes the four variables selected by CC, the latter included neither diastolic blood pressure nor hemiplegia/hemiparesia. However, CC results seem easier to understand and interpret than with SMLR.

[Taking advantage of information sources for clinical practice]. / El aprovechamiento de las fuentes de información para la práctica clínica.

Information sources are the books, journals and electronic systems which support the academic work of physicians. Doctors have not taken enough advantage of these sources for their clinical decisions because they trend to rely on a routine undue confidence in experience, and because they do not have the skills for so-called health documentation. Many patients, consequently, have access to the best alternatives for solving their medical problems. The proper use of these sources implies some skills such as reflexive practice, the ability for recovering information, and critical reading and enough determination to apply the results of scientific research to individual patients, taking into consideration the patient's circumstances and the evaluation of outcomes. In this way, there is real integration of medical care, research, and continuing medical education.

The perception of teratogenic risk by women with nausea and vomiting of pregnancy.

This study determined the advice reported to be received by women suffering from nausea and vomiting of pregnancy (NVP) from their caregivers regarding management, the teratogenic risk perception of these women and their choice of antiemetic drug use in pregnancy. A secondary objective was to determine prospectively the effect of counseling on malformation risk perception in women with NVP. The women were prospectively followed-up and questioned about the use of pharmacotherapy or other management choices as well as their perception of teratogenic risk through structured telephone interviews. The results showed that at the initial call, around 6 weeks of gestation, over three quarters of the 260 participants reported that therapy of NVP increased their teratogenic risk. This risk perception was decreased significantly after counseling. Women who reported their physicians' advice to change their diet and/or lifestyle attributed an increased risk for major malformations with antiemetics for NVP (P = 0.001), whereas women who reported advice to take antiemetic medications known to be safe to the fetus attributed no change in risk for major malformations with drugs for NVP (P = 0.002). We came to the conclusion that women are commonly hesitant to treat NVP pharmacologically due to unfounded fears of teratogenic risk. Evidenced-based counseling resulted in reduced numbers of women who considered drug therapy for NVP to increase the risk of major malformations.

Insulin sensitivity and sex steroid hormone levels during the menstrual cycle in healthy women with non-insulin-dependent diabetic parents.

OBJECTIVE: To identify the effect of the menstrual cycle and sex steroid hormone levels on insulin sensitivity in healthy women with non-insulin-dependent diabetic parents. METHODS: A clinical trial was realized in 6 healthy women with non-insulin-dependent diabetic parents and in 6 control subjects. In both phases of the menstrual cycle the following tests were made: insulin tolerance test, metabolic profile, and sex steroid hormone levels. RESULTS: Insulin sensitivity was significantly lower in the follicular (p = 0.004) and luteal (p = 0.01) phases of the menstrual cycle in probands compared with controls. In the luteal phase dehydroepiandrosterone was higher in probands than in controls (p = 0.009). CONCLUSIONS: Healthy women with non-insulin-dependent diabetic parents had a lower insulin sensitivity in both phases of the menstrual cycle compared with the control group. Dehydroepiandrosterone was higher in the luteal phase in probands than controls.

Metabolic profile and insulin sensitivity in healthy young Mexicans with a strong family history of non-insulin-dependent diabetes mellitus in the paternal branch.

The objective was to identify early metabolic defects and insulin sensitivity in a group of healthy young Mexicans with a family history of NIDDM in first and second degree on the paternal branch. The design was a cross-sectional study, and the setting was a hospital and a school of medicine in Guadalajara, Jalisco, Mexico. The subjects were 20 healthy, non-obese, young (age 19-20 years), born in Mexico, with family history of NIDDM in first and second degree in the paternal branch, and 20 controls. Measurements were serum values of creatinin, uric acid, total cholesterol, high-density lipoprotein cholesterol, triglycerides, glucose, and insulin, insulin tolerance test, glucose/insulin ratio, LDL cholesterol, VLDL cholesterol, total cholesterol/HDL cholesterol ratio and LDL cholesterol/HDL cholesterol ratio. In terms of results, only the total cholesterol was slightly, although significantly (p = 0.05) higher in probands (4.3 +/- 0.5 mmol/L) than in control subjects (3.9 +/- 0.5 mmol/L). In conclusion, healthy young Mexicans with a strong family history of NIDDM in the paternal branch were not different in insulin sensitivity from those without family history of NIDDM, and only showed a slight increase in serum total cholesterol.

Changes in human serum antioxidant capacity and peroxidation after four months of exposure to air pollutants.

Twenty-one adult volunteers (aged 27-32 years), who had been living in Mexico City for four continuous months (physicians working as fellows) were studied the first and sixteenth week of their stay in order to learn the effects of the pollutants contained in Mexico City's atmosphere on some serum biochemical parameters. The activity of serum superoxide dismutase (SOD) decreased after 16 weeks in comparison with the values obtained the first week (109.6 to 56.9 mU/mg protein; 50% less). In contrast, the inhibitory capacity of serum vs. induced in vitro lipoperoxidation increased in relation to the length of stay (22%). The serum levels of thiobarbituric-reactive material also decreased in almost 30% (from 6.10 to 4.12 nmol). The other lipoperoxides measured were unchanged (chromolipids and diene conjugation). We propose that this may be as a result of the adaptative capacity of the human organism, within a pollutant atmosphere in which the ozone levels might participate in a decrease of SOD activity during chronic exposure, to air pollution.

[The human, humanistic, humanist and humanitarian in medicine]. / Lo humano, humanístico, humanista y humanitario en medicina.

The Spanish use of words like human, humane, humanitarian, humanist and humanistic (humano, humanista, humanístico y humanitario) as synonyms has created some confusion. Human (humano) is related with man's nature, its goodness and evil; humane and humanitarian (humanitario) with kindness and benevolence; humanistic (humanístico) with the cultural and artistic movement that began in renaissance and with anthropocentric philosophy, while humanist (humanista) is identified with the fields of learning (humanities) including the arts, history, literature, and philosophy, excluding the sciences. Medicine and physicians must have all these attributes.

[Trends in medical education]. / Tendencias de la educación médica.

Trends in medical education include those occurring in medical practice, related with its contents, and in the educational sciences, related with methods and technics that could be employed. Trends in medical practice are related to epidemiologic, demographic and economic transitions, with the overwhelming influence of medical technology, specially molecular biology, the increasing social regulation, evidence based medicine and transdisciplinary contributions. In the field of pedagogy, trends include the acceptance of the strategic value of medical education, the importance of quality-and not only of covering, the attention to educational necessities, the recognition of the adulthood of most of the learners, the importance of its individual differences and the application of new educational technics.

The effect of estrogen replacement therapy on plasma serotonin and catecholamines of postmenopausal women.

We examined the effect of estrogen replacement therapy (ERT) on plasma serotonin (5HT) and norepinephrine (NE) and their correlation with serum estradiol, luteinizing hormone (LH) and follicle-stimulating hormone (FSH) in 12 postmenopausal women. Plasma 5HT and NE, estrogen, progesterone, LH and FSH were examined every 4 days for 2 consecutive months (before and during ERT). Serotonin values were low (32.29 +/- 38.36 nmol/l) and showed an intrinsic spontaneous cyclicity with a nadir every 10-11 days. Plasma NE was similar to that observed during the follicular phase of the ovulatory cycle (1,216.8 +/- 503.4 pmol/l) and showed no cyclicity. ERT significantly increased mean (+/- SD) serum estrogen values (from 95.40 +/- 73.31 to 390.72 +/- 347.17 pmol/l, P = 0.0001), significantly decreased serum FSH (from 84.04 +/- 14.97 to 52.97 +/- 20.74 mIU/ml, P = 0.0001) and LH (from 35.35 +/- 13.82 mIU/ml to 29.69 +/- 16.46 mIU/ml, P = 0.03). Plasma 5HT levels showed a tendency to rise under the influence of ERT, but this increase was not statistically significant. Plasma NE decreased significantly from 1,216.8 +/- 503.4 to 994.1 +/- 353.89 pmol/l, P <0.05. In conclusion, plasma serotonin in postmenopausal women has a 10-11 day cycle and is significantly lower than in the follicular phase of ovulating women. Plasma NE shows no cyclicity and is significantly decreased by ERT.

Insulin resistance in offspring of hypertensive subjects.

OBJECTIVE: To assess whether apparently healthy subjects with a family history of systemic hypertension have a higher risk of presenting the insulin resistance syndrome. SUBJECTS: Three hundred and eighty-six subjects aged 20-65 years. SETTING: A middle socio-economic class urban community from Mexico City. METHOD: All subjects and, when necessary, their first-degree relatives, answered a questionnaire and underwent a physical examination with measurement of height, weight and blood pressure. Serum insulin, glucose, cholesterol and triglycerides were measured during fasting and 2 h after an oral load of 75 g glucose. RESULTS: A family history of systemic hypertension was present for 167 (43%) of the subjects, of whom 123 (31%) were obese. Subjects with a family history of hypertension had higher systolic blood pressures than did those without such a history (120 +/- 15 versus 115 +/- 10 mmHg). In the logistic regression model, the body mass index and age showed statistically significant effects on the fasting glucose:insulin ratio and on serum insulin levels after an oral load of glucose. When men and women were analysed separately, only in men were higher systolic and mean blood pressures and lower glucose:insulin ratios observed. In the logistic regression analysis the body mass index was a significant predictor of the glucose:insulin ratio and serum insulin levels after an oral load of glucose, especially in men. CONCLUSION: Apparently healthy male offspring of hypertensive parents have higher blood pressure levels and lower insulin sensitivities than do offspring of normotensive parents. Insulin resistance was related to obesity, but not to a family history of hypertension, as had previously been reported by other research groups.

Dexamethasone as an adjuvant therapy for anovulatory, normoandrogenic patients during ovulation induction with exogenous gonadotropins.

OBJECTIVE: The objective of our study was to explore the effect of dexamethasone (DEX), a highly potent, long-acting glucocorticoid, on the treatment outcome of 74 anovulatory women aged 21 to 29 years, with normal gonadotropins, androgen, and prolactin (PRL) serum levels who failed to conceive on antiestrogen therapy. METHODS: The patients received human menopausal gonadotropin/human chorionic gonadotropin (hMG/hCG) for ovulation induction. Starting on day 4 of the induced menstruation, hMG was administered in combination with DEX, 0.5 mg at night, or without DEX as an adjuvant treatment. The total amount of gonadotropins used, time required for stimulation, percentage of fertilization, serum estradiol levels, pregnancy rate, cumulative pregnancy rate, and abortions were recorded. RESULTS: There were no differences in either the cumulative pregnancy rate (54.1% in the DEX group and 52.7% in the untreated group) or the abortion rates (21.7% in the DEX group compared to 20.8% in the untreated group). The other parameters investigated also did not differ significantly between the groups. CONCLUSIONS: The overall results did not support DEX as a clinically useful adjuvant therapy for anovulatory, normoandrogenic patients.