Cryptococcuria as manifestation of disseminated cryptococcosis: Staib agar as a selective identification medium.

We conducted a retrospective study of 58 cases of cryptococcosis (1986-2008) with urine test positive for Cryptococcus sp, in Mycology Laboratory, Santa Casa-Hospital Complex, Porto Alegre, RS, Brazil. The diagnosis of cryptococcuria was based on microscopic examination and culture of urinary sediment. Cryptococcus was isolated from other clinical specimens such as blood, cerebrospinal fluid, ascitic and pleural fluids, respiratory secretions, biopsies of skin, nasal and bone marrow. Cryptocccus neoformans was present in 55 cases and Cryptocccus gattii in three cases. Males predominated (79.3%); age ranged from 12 to 86 years. Acquired Immune Deficiency Syndrome (AIDS) were present in 60.3%, 31.1% did not have AIDS and 5.2% were apparently immunocompetent patients. The most frequent signs and symptoms were headache (53.4%) and fever (51.7%). The most widely used medication was the amphotericin B (43 patients). The mortality rate was 45%. We conclude that the mycological examination of the urine can be an alternative simple, non-invasive and useful in diagnosis of disseminated cryptococcosis, especially when used in conjunction with techniques for demonstration of the capsule (nigrosine) and/or production of melanin in special culture media (Staib agar).

Frontomaxillary facial angle in screening for trisomy 21 at 11 + 0 to 13 + 6 weeks.

OBJECTIVE: Trisomy 21 is associated with a flat face, which can now be quantified by measurement of the frontomaxillary facial (FMF) angle. The aim of this study was to examine whether in trisomy 21 fetuses fetal nuchal translucency (NT) thickness and maternal serum free ss-human chorionic gonadotropin (ss-hCG) and pregnancy-associated plasma protein-A (PAPP-A) are independent of the FMF angle, and to estimate the performance of a first-trimester screening test for trisomy 21 that includes measurement of the FMF angle. METHODS: This was a prospective study in singleton pregnancies at 11 + 0 to 13 + 6 weeks of gestation in which three-dimensional volumes of the fetal head were obtained and measurement of the FMF angle performed immediately before fetal karyotyping by chorionic villus sampling (CVS). The women chose to have CVS after risk assessment by a combination of maternal age, fetal NT thickness and maternal serum free ss-hCG and PAPP-A. Regression analysis was used to examine the significance of the association within the euploid and within the trisomy 21 fetuses between the deviation from the normal median in FMF angle and the deviation in NT, free ss-hCG and PAPP-A. We estimated the detection rate (DR) and false positive rate (FPR) of first-trimester screening for trisomy 21 by measuring the FMF angle in all cases and of an alternative policy in which first-stage screening is by fetal NT and maternal serum biochemistry in all patients, followed by second-stage assessment of FMF angle only in those with an intermediate risk (1 in 51 to 1 in 1000) after the first stage. RESULTS: The FMF angle was measured in 782 euploid and 108 trisomy 21 fetuses. In the euploid fetuses the mean FMF angle decreased linearly with CRL from 83.5 degrees at a crown-rump length (CRL) of 45 mm to 76.4 degrees at a CRL of 84 mm. In the euploid fetuses the mean delta FMF angle was 0.0 (SD, 4.264) degrees and the respective values in the trisomy 21 fetuses were 7.172 (SD, 4.092) degrees . Incorporating the FMF angle in first-trimester combined screening increased the estimated DR from 90 to 94% at an FPR of 5% and from 85 to 92% at an FPR of 3%. In two-stage screening it would be necessary to measure the FMF angle in 12% of cases and the DRs would be 93 and 91% at FPRs of 5 and 3%, respectively. CONCLUSIONS: Measurement of the FMF angle improves the performance of first-trimester screening for trisomy 21.

A mixture model of nuchal translucency thickness in screening for chromosomal defects.

OBJECTIVE: Fetal nuchal translucency (NT) thickness increases with crown-rump length (CRL). In screening for chromosomal defects patient-specific risks are derived by multiplying the a priori maternal age-related risk by a likelihood ratio, determined from the deviation of the measured NT from the expected median. To quantify this deviation the measured NT is either subtracted (delta NT) or divided by the expected median (multiple of the median method, MoM). This study examines the validity of these methods. METHODS: NT was prospectively measured at 11 + 0 to 13 + 6 weeks in screening for chromosomal defects. The distribution of NT in euploid and chromosomally abnormal fetuses was examined. RESULTS: There were 37 078 normal pregnancies and 264 with trisomy 21, 81 with trisomy 18, 38 with trisomy 13 and 27 with Turner syndrome. We found that firstly, contrary to the assumption underlying the delta NT method, the distribution of delta NT changes with CRL and secondly, contrary to the assumption underlying the MoM method the distribution of NT was not Gaussian. Fetal NT followed two distributions, one that was dependent on CRL and one that was independent of CRL. The distribution in which NT increases with CRL was observed in about 95% of euploid fetuses, 5% with trisomy 21, 30% with trisomy 18, 15% with trisomy 13 and 10% with Turner syndrome. The median CRL-independent NT was 2.0 mm for the euploid group and 3.4, 5.5, 4.0 and 7.8 mm for trisomies 21, 18, 13 and Turner syndrome, respectively. CONCLUSIONS: The NT thickness in chromosomally normal and abnormal fetuses follows a mixture of a gestation-dependent and gestation-independent distribution.

Discordance in nuchal translucency thickness in the prediction of severe twin-to-twin transfusion syndrome.

OBJECTIVE: To examine in monochorionic pregnancies the possible value of intertwin discordance in nuchal translucency (NT) thickness in the prediction of early fetal death or severe twin-twin transfusion syndrome (TTTS). METHODS: In 512 monochorionic twin pregnancies NT was measured at 11 to 13 + 6 weeks' gestation and regression analysis was used to determine the significance of the association between the intertwin discordance in NT and subsequent early fetal death or development of severe TTTS requiring endoscopic laser surgery. RESULTS: In 412 (80.5%) pregnancies there was a normal outcome, in 58 (11.3%) there was severe TTTS requiring endoscopic laser surgery at 18-24 weeks, in 19 (3.7%) there was death of one or both fetuses at 13-18 weeks and in 23 (4.5%) there was fetal death at 21-38 weeks. In the four outcome groups the median discordance in NT was 11%, 22%, 35% and 7%, respectively. Significant prediction of early fetal death and severe TTTS was provided by the discordance in fetal NT, which was not significantly improved by including the discordance in crown-rump length. If the discordance in NT was 20% or more, the false positive rate was 20%, the detection rate of early fetal death was 63% and the detection rate of severe TTTS was 52%. CONCLUSIONS: Discordance in NT of 20% or more is found in about 25% of monochorionic twins and in this group the risk of early fetal death or development of severe TTTS is more than 30%. If the discordance is less than 20% the risk of complications is less than 10%.