Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene.
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Arthrogryposis↗
Biomedical subjects
J A Magalhães
Publications and source records attributed to J A Magalhães.
Subendometrial power Doppler quantification: a new classification proposal.
Fifty-two women with regular menses were enrolled in the study. The patients were not allowed to use non-steroidal anti-inflammatory drugs within 24 h of any examination. All patients were examined during the mid-luteal phase (6-9 days after ovulation, according to previous ultrasound record). Power Doppler energy levels were classified into five categories according to the per cent area of sub-endometrial signal: I (<10%), II (10-25%), III (25-50%), IV (50-75%) and V (>75%). The colour Doppler signal was considered positive when it reached at least the endometrial basal layer. The picture of the endometrium was analysed and the regions of interest were identified and marked for further analysis. Each recorded image was then independently evaluated and classified by three blinded observers. According to the power Doppler classification, age, body mass index (BMI) and endometrial thickness were analysed, and no significant differences were observed among them. The Kappa test (0.70) demonstrated an excellent agreement among examiners (P = 0.0001). This study has validated a very simple and cost-effective classification for sub-endometrial vascularization. This method of quantification may potentially be of use, and its relevance to clinical practice should be explored.
Adult↗
Relation of cervical length at 22-24 weeks of gestation to demographic characteristics and obstetric history.
Preterm delivery is the main cause of neonatal death and ultrasonographic cervical assessment has been shown to be more accurate than digital examination in recognizing a short cervix. This is a cross-sectional study, involving 1131 women at 22-24 weeks of pregnancy, designed to determine the distribution of cervical length and to examine which variables of demographic characteristics and obstetric history increase the risk of a short cervix (15 mm or less). The distribution of maternal demographic and obstetric history characteristics among patients with cervical length pound 15 mm was analyzed and compared to the findings for the general population. Risk ratios (RR) between subgroups were generated from this comparison. Median cervical length was 37 mm and in 1.5% of cases it was 15 mm or less. The proportion of women with a short cervix (< or =15 mm) was significantly higher among patients with a low body mass index (RR = 3.5) and in those with previous fetal losses between 16-23 weeks (RR = 33.1) or spontaneous preterm deliveries between 24-32 weeks (RR = 14.1). We suggest that transvaginal sonographic measurement of cervical length be performed as part of a routine midtrimester ultrasound evaluation. There are specific variables of demographic characteristics and obstetric history which increase the risk of detecting a short cervix at 22-24 weeks.
Body Mass Index↗
Endometrial response to a cyclic regimen of percutaneous 17beta-estradiol and low-dose vaginal micronized progesterone in women with mild-to-moderate hypertension.
Endometrial response to natural estradiol and low-dose vaginal progesterone replacement therapy was evaluated in 20 postmenopausal women with chronic, mild-to-moderate hypertension. A cyclic hormone replacement therapy (HRT) regimen was used (21/28 days) with percutaneous estradiol (1.5 mg/day) and vaginal micronized progesterone (100 mg/day). Menopausal symptoms decreased and estradiol concentrations increased substantially and remained in the physiological range throughout treatment. Serum gonadotropin concentrations decreased significantly (p < 0.001, Friedman's ANOVA). Bone mineral density increased by 2.1% (p = 0.029) only at the lumbar spine. Endometrial thickness remained unchanged. Breakthrough bleeding or spotting occurred in 18% of cycles in the first 3 months of HRT, 30% in months 4-9 and 22% in months 10-12. Withdrawal bleeding occurred in 40% of cycles in the first 3 months and decreased to 25% in months 10-12. At month 12, there were 11 women with amenorrhea due to endometrial atrophy. Nine women had active endometria (proliferative or secretory) and thus reported vaginal bleeding. No severe bleeding, hyperplasia, or carcinoma was found. Vaginal bleeding was tolerated, and no subject withdrew from the study. Results suggest that this regimen confers endometrial protection and is well tolerated, and can therefore safely be used for at least 1 year by postmenopausal women with hypertension and menopausal symptoms.
Administration, Cutaneous↗
Biochemical profile of amniotic fluid for the assessment of fetal and renal development.
Creatinine plays a key role in the function and maturation of fetal kidneys throughout pregnancy. It is important to identify other markers that may help in the diagnosis of renal dysfunction. Our aim was to determine the profile of and the correlation between biochemical markers to be used to assess renal function and maturation of the fetus in the amniotic fluid during pregnancy and to determine the distribution of normal values for creatinine, N-acetyl-beta-D-glucosaminidase (NAG), beta2-microglobulin, glucose, urea, sodium, potassium, phosphorus, calcium, uric acid, albumin, and osmolality in three gestational age groups. This was a cross-section study that assessed 115 samples of amniotic fluid during three different periods of pregnancy, i.e., 13 to 20, 27 to 34, and 36 to 42 weeks. Concentrations of creatinine, NAG, urea, potassium and uric acid increased during pregnancy (P<0.05). Beta2-microglobulin, glucose, sodium, phosphorus, calcium, and albumin concentration and osmolality decreased (P<0.05), whereas beta2-microglobulin, glucose and uric acid presented significant correlations with gestational age and creatinine, respectively (r>0.6, P<0.05). Urea, potassium and phosphorus showed mild correlations with both (r>0.5, P<0.05). NAG, sodium, albumin and osmolality did not show significant correlations (r<0.5, P<0.05). These tests confirmed the important role of creatinine in terms of correlation with gestational age. beta2-Microglobulin, glucose and uric acid were significant as markers of function and maturation of fetal kidneys, whereas NAG did not demonstrate a useful role for the assessment of renal maturation.
Acetylglucosaminidase↗
The Mars Pathfinder atmospheric structure investigation/meteorology (ASI/MET) experiment.
The Mars Pathfinder atmospheric structure investigation/meteorology (ASI/MET) experiment measured the vertical density, pressure, and temperature structure of the martian atmosphere from the surface to 160 km, and monitored surface meteorology and climate for 83 sols (1 sol = 1 martian day = 24.7 hours). The atmospheric structure and the weather record are similar to those observed by the Viking 1 lander (VL-1) at the same latitude, altitude, and season 21 years ago, but there are differences related to diurnal effects and the surface properties of the landing site. These include a cold nighttime upper atmosphere; atmospheric temperatures that are 10 to 12 degrees kelvin warmer near the surface; light slope-controlled winds; and dust devils, identified by their pressure, wind, and temperature signatures. The results are consistent with the warm, moderately dusty atmosphere seen by VL-1.
Atmosphere↗
Association of ovarian volume and serum LH levels in adolescent patients with menstrual disorders and/or hirsutism.
Pelvic ultrasonography was performed on 25 adolescent patients with menstrual disorders and/or hirsutism. Clinical and endocrinologic state was evaluated by history, physical examination and assays of serum LH, FSH, prolactin, testosterone and androstenedione levels in order to determine a possible association between hormonal levels and ovarian volume in the etiologic investigation of these adolescent girls. Patients aged 12 to 19 years, mean 14.92 years (menarche at 12 to 16 years; mean, 12.32 years) were divided into three groups according to ovarian size at ultrasonography: group I, N = 13, both ovaries 2-10 cm3; group II, N = 5, one of the ovaries > 10 cm3; group III, N = 7, both ovaries > 10 cm3. A strong correlation between serum LH levels and ovarian volume (r = 0.647, P < 0.0001) was observed. Moreover, when comparing the hormonal levels of all three groups, serum LH levels were significantly higher in group III (group I, 3.92 +/- 3.49; group II, 5.25 +/- 2.71; group III, 9.77 +/- 3.11 mIU/ml; mean +/- SD, P < 0.003) while testosterone and androstenedione levels showed a tendency to also be higher, but this difference was not significant. This hormonal pattern is suggestive of polycystic ovary syndrome (PCOS). The present results suggest that ovarian size of more than 10 cm3 at pelvic ultrasound in adolescent girls with menstrual disorders and/or hirsutism might be predictive of PCOS and emphasize the importance of careful assessment of ovarian volume by ultrasound.
Adolescent↗
Prenatal diagnosis of a benign facial tumor.
We report a case of prenatal diagnosis of a benign fetal skin tumor on the chin made at 27 weeks of pregnancy by ultrasound scan. We report this case given the uncommon diagnosis and the unique fetal facial profile seen on ultrasound, resembling the image of an ancient Egyptian pharaoh which made us call it 'Ramses' sign' as a future mnemonic aid to sonographers.
Adult↗
[Alpha-fetoprotein: normal values in amniotic fluid between 14 and 21 weeks].
BACKGROUND: To define the normal values of amniotic fluid alphafetoprotein in pregnant women, whose gestational ages range from 14 to 21 weeks, in the Hospital de Clínicas de Porto Alegre. MATERIAL AND METHOD: One hundred thirty seven women with indication for amniocentesis were studied. The alphafetoprotein was measured in all samples using enzyme immunoassay. One hundred and nine normal pregnancies were selected. All of these fetuses had normal karyotype and had no malformation. They were not twins and their amniotic fluid samples were not bloody. These samples were divided by their gestational ages. Then the medians of the alphafetoprotein values and their multiples were calculated. RESULTS: The medians of alphafetoprotein (KUI/ml) for each gestational age were as follows: 14 weeks: 16.32; 15 weeks: 14.36; 16 weeks: 13.43; 17 weeks: 10.93; 18 weeks: 8.22; 19 weeks: 7.35; 20 weeks: 5.62; 21 weeks: 4.47. CONCLUSION: The establishment of alphafetoprotein normal values in our service allows us to use this assay for patients at risk of neural tube defects. It also makes possible to analyze samples sent for cytogenetic or metabolic studies, in order to identify elevated levels of alphafetoprotein, so that these fetuses could have a more detailed sonography study to look for malformations.
Adult↗
Asymmetric bilateral megalencephaly. A case report.
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Brain↗