Prevalences, genotypes, and risk factors for HIV transmission in South America

HIV cross-sectional studies were conducted among high-risk populations in 9 countries of South America. Enzyme-linked immunosorbent assay screening and Western blot confirmatory testing were performed, and env heteroduplex mobility assay genotyping and DNA sequencing were performed on a subset of HIV-positive subjects. HIV prevalences were highest among men who have sex with men (MSM; 2.0%-27.8%) and were found to be associated with multiple partners, noninjection drug use (non-IDU), and sexually transmitted infections (STIs). By comparison, much lower prevalences were noted among female commercial sex workers (FCSWs; 0%-6.3%) and were associated mainly with a prior IDU and STI history. Env subtype B predominated among MSM throughout the region (more than 90% of strains), whereas env subtype F predominated among FCSWs in Argentina and male commercial sex workers in Uruguay (more than 50% of strains). A renewed effort in controlling STIs, especially among MSM groups, could significantly lessen the impact of the HIV epidemic in South America.     

Pre-implantation genetic testing in ART: who will benefit and what is the evidence?

Pre-implantation genetic diagnosis for aneuploidy testing (PGD-A) is a tool to identify euploid embryos during IVF. The suggested populations of patients that can benefit from it are infertile women of advanced maternal age, with a history of recurrent miscarriages and/or IVF failures. However, a general consensus has not yet been reached.After the clinical failure of its first version based on cleavage stage biopsy and 9 chromosome-FISH analysis, PGD-A is currently performed by 24 chromosome screening techniques on trophectoderm (TE) biopsies. This approach has been clearly demonstrated to involve a higher clinical efficiency with respect to the standard care, in terms of sustained pregnancy rate per transfer and lower miscarriage rate. However, data about PGD-A efficacy calculated on a per intention-to-treat basis, as well as an analysis of its cost-effectiveness, are still missing.TE biopsy is a safe and extensively validated approach with low biological and technical margin of error. Firstly, the prevalence of mosaic diploid/aneuploid blastocysts is estimated to be between 0 and 16 %, thus largely tolerable. Secondly, all the comprehensive chromosome screening (CCS) technologies adapted to, or designed to conduct PGD-A are highly concordant, and qPCR in particular has been proven to show the lowest false positive error rate (0.5 %) and a clinically recognizable error rate per blastocyst of just 0.21 %.In conclusion, there is a sufficient body of evidence to support the clinical application of CCS-based PGD-A on TE biopsies. The main limiting factor is the need for a high-standard laboratory to conduct blastocyst culture, biopsy and vitrification without impacting embryo viability.     

Reference values for the fetal lateral ventricle atrium measurement in the second and third trimesters of pregnancy in a Brazilian population

Objective: To establish reference values for the fetal atrium lateral ventricle measurements in the second and third trimesters of pregnancy in a Brazilian population.

Methods: A retrospective cross-sectional study was performed with low-risk pregnant women who underwent ultrasound examination at 16–41 weeks of gestation. The atrium of lateral ventricle measurement was performed in the transventricular plane at the end of choroid plexus. We assessed reference curves (percentiles 5th, 50th and 95th) for the atrium of lateral ventricle measurement with gestational age (GA), using the best-fit polynomial equation, and determination coefficient (R²) and modeling the variability.

Results: The fetal atrium of lateral ventricle measurements was assessed in 519 singleton pregnancies. However, seven fetuses were excluded because of central nervous system malformations, and therefore data from 512 pregnancies were included in the analysis. The mean?±?standard deviation (range) of the fetal atrium lateral ventricle measurement (mm) was 5.1?±?1.4 (1.6–9.7). A best-fit curve was a first-degree polynomial regression: atrium lateral ventricle?=?6.455???0.049?×?GA (R²?=?0.05).

Conclusion: Reference values for the fetal atrium lateral ventricle measurements in the second and third trimesters of pregnancy in a Brazilian population were established.     

Mucoepidermoid carcinoma of the lung arising at the primary site of a bronchogenic cyst: clinical, cytogenetic, and molecular findings

Primary lung tumors are rare in children, and mucoepidermoid carcinoma (MEC) represents less than 10% of them. Additionally, MEC arising from bronchogenic cysts (BC) is particularly unusual. We describe the clinical and genetic findings on a MEC occurring within a previous location of a BC in an adolescent. This particular association has not been previously reported. The lesion revealed normal karyotype without the typical t(11;19)(q21;p13) translocation. Cyclin D1 overexpression (165-fold increase) was demonstrated by real-time PCR although FISH assessment showed normal hybridization at 11q13. Information on these unusual clinical presentations may present relevant insight on tumorigenesis of infrequent pediatric pulmonary tumors.     

Tension-type headache in paediatric age

The aim of this paper is to review the main topics about the management of paediatric tension-type headache. A Medline search was undertaken of all reports and reviews published between 1990 and 2010 using MeSH search terms 'tension-type headache (TTH), 'treatment' and 'children'. TTH is a very common disorder in childhood and adolescents. In many cases, the frequency and intensity of episodes may be likely to interfere with school and social activities. For this reason, a correct diagnosis and appropriate management of TTH are essential. A detailed history and proper examination, as well as a headache diary, are essential for this purpose and help to distinguish secondary causes of headache. Lacking are studies to test the efficacy and safety of pharmacological treatment in children, and a few well-tested drugs are available for this purpose. To date, relaxation techniques and biofeedback are therefore best placed as the first-line therapies. CONCLUSION: A thorough evaluation of headache in paediatric age is necessary to make a correct diagnosis and start the appropriate treatment. In particular, an appropriate management requires an individually tailored strategy which should include both pharmacological and nonpharmacological therapies. New treatment options for elderly patients with headache including acute, prophylactic and interventional techniques are needed.     

Epilepsy, speech delay, and mental retardation in facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies which is related to the deletion of tandem repeats on chromosome 4q35. Extramuscular features such as hearing loss, retinopathy, mental retardation, and epilepsy, may be observed in patients carrying large 4q35 deletions resulting in fragment sizes less than 12 kilobases (kb) (normal >35 kb). We report on a family affected by FSHD carrying a small 4q35 deletion and residual fragments length of 17 kb, presenting with epilepsy (three patients), speech delay (two), and mental retardation (one). In all patients semeiology of seizures and interictal EEG anomalies were congruent with a localization-related epilepsy possibly involving the temporal lobe.In conclusion, we provide further evidences that extramuscular findings such as epilepsy, speech delay, and mental retardation may occur in those patients carrying smaller 4q35 deletions, suggesting that a close correlation between 4q35 fragment size and clinical severity in FSHD is therefore not constant. Moreover, a review of the literature and our observations seem to suggest that focal epilepsies, likely related to the temporal lobe in the present family, represent the main type of epilepsy occurring in children with FSHD.     

Effect of acute swimming exercise at different intensities but equal total load over metabolic and molecular responses in swimming rats

Journal of Muscle Research and Cell Motility - Acute metabolic and molecular response to exercise may vary according to exercise’s intensity and duration. However, there is a lack regarding...     

Immunoblotting of gliadins separated by acid PAGE: Analysis of electrotransference conditions

Several transference buffers and conditions (time and voltage) were tested to establish a suitable procedure for immunoblotting of gliadins after acid polyacrylamide gel electrophoresis (A‐PAGE). Ethanolic extracts of wheat flour were separated by A‐PAGE, transferred to nitrocellulose membranes and detected using an anti‐gliadin serum. The blot resolution was highly dependent on the buffer employed for electrotransference. The best results were obtained when a 10 mM‐H₃PO₄/NaH₂PO₄ buffer, pH 2.7, was employed. All gliadin fractions were transferred using this buffer. Sharp bands were obtained and good resolution was achieved.