Internal and external adenomyosis phenotypes: ultrasound features and association with clinical outcomes.

STUDY QUESTION: What are the sonographic and clinical findings in women diagnosed with external and internal adenomyosis by ultrasound? SUMMARY ANSWER: Patients with external and internal adenomyosis phenotypes, diagnosed by ultrasound, present differences in sonographic features of the disease and demographic characteristics including age, parity, and association with deep endometriosis (DE) and leiomyomas. WHAT IS KNOWN ALREADY: Two different phenotypes of adenomyosis have been described based on the anatomical location of adenomyotic lesions in the myometrium, suggesting that adenomyosis affecting the inner myometrium and that affecting the external myometrial layer may have distinct origins. STUDY DESIGN, SIZE, DURATION: A cross-sectional study including 505 patients with a sonographic diagnosis of adenomyosis was performed between January 2021 and December 2022. PARTICIPANTS/MATERIALS, SETTING, METHODS: Women sonographically diagnosed with adenomyosis in a tertiary referral hospital that serves as a national reference center for endometriosis were included over a 2-year period. Patients were divided into two groups (internal and external adenomyosis) according to the myometrial layer affected by adenomyosis. We compared sonographic and clinical outcomes including a multivariate analysis between the two groups. MAIN RESULTS AND THE ROLE OF CHANCE: According to ultrasound findings, 353 (69.9%) patients presented with internal adenomyosis, while 152 (30.1%) presented with external adenomyosis. Women with internal adenomyosis were significantly older and less frequently nulliparous compared to those with external adenomyosis. Sonographically, internal adenomyosis appeared diffusely, it had a greater number of adenomyosis features, it presented a globular morphology of the uterus more frequently, and it coexisted with leiomyomas more frequently, compared to external adenomyosis. Conversely, the presence of translesional vascularity and associated DE were more common among the external adenomyosis group. No significant differences were found between internal and external adenomyosis groups regarding pain, heavy menstrual bleeding, spotting, or infertility. In the multivariate analysis, nulliparity, the presence of leiomyomas, and the presence of DE were independently associated with adenomyosis phenotypes (the presence of DE and nulliparity increased the risk of external adenomyosis, whereas the presence of leiomyomas was a risk factor for internal adenomyosis). Considering the impact of hormonal treatment, we found that the number of ultrasound adenomyosis criteria was significantly greater in patients without hormonal treatment. Non-treated patients more commonly presented dysmenorrhea or bleeding-associated pain and heavy menstrual bleeding than women on hormonal treatment, although there were no significant differences according to adenomyosis phenotypes. LIMITATIONS, REASONS FOR CAUTION: As the population was selected from the Endometriosis Unit of a tertiary center, there may be patient selection bias, given the high prevalence of individuals with associated endometriosis, previous endometriosis-related surgery, and/or receiving hormonal treatment. WIDER IMPLICATIONS OF THE FINDINGS: Transvaginal ultrasound is the most available and cost-effective tool for the diagnosis of adenomyosis. Adenomyosis phenotypes based on ultrasound findings may be key in achieving an accurate diagnosis and in decision-making regarding the most adequate therapeutic strategy for the management of patients with adenomyosis. Determination of the sonographic features associated with symptoms could help in the evaluation of treatment response. STUDY FUNDING/COMPETING INTEREST(S): No funding was obtained for this study and there are no conflicts of interest to declare. TRIAL REGISTRATION NUMBER: N/A.

The reconstruction of invasion histories with genomic data in light of differing levels of anthropogenic transport.

Unravelling the history of range shifts is key for understanding past, current and future species distributions. Anthropogenic transport of species alters natural dispersal patterns and directly affects population connectivity. Studies have suggested that high levels of anthropogenic transport homogenize patterns of genetic differentiation and blur colonization pathways. However, empirical evidence of these effects remains elusive. We compared two range-shifting species (Microcosmus squamiger and Ciona robusta) to examine how anthropogenic transport affects our ability to reconstruct colonization pathways using genomic data. We first investigated shipping networks from the 18th century onwards, cross-referencing these with regions where the species have records to infer how each species has potentially been affected by different levels of anthropogenic transport. We then genotyped thousands of single-nucleotide polymorphisms from 280 M. squamiger and 190 C. robusta individuals collected across their extensive species' ranges and reconstructed colonization pathways. Differing levels of anthropogenic transport did not preclude the elucidation of population structure, though specific inferences of colonization pathways were difficult to discern in some of the considered scenario sets. We conclude that genomic data in combination with information of underlying introduction drivers provide key insights into the historic spread of range-shifting species. This article is part of the theme issue 'Species' ranges in the face of changing environments (part I)'.

Transvaginal ultrasound for diagnosis of deep endometriosis involving uterosacral ligaments, torus uterinus and posterior vaginal fornix: prospective study.

OBJECTIVE: To evaluate the accuracy of transvaginal ultrasound (TVS) in diagnosing deep endometriosis (DE) involving the uterosacral ligaments (USLs), torus uterinus (TU) or posterior vaginal fornix (PVF) in women with suspected endometriosis scheduled for laparoscopic surgery. METHODS: In this prospective study, consecutive women with clinically suspected pelvic endometriosis who were scheduled for laparoscopic surgery were invited to participate. TVS was performed before surgery. TVS findings were compared with those obtained at laparoscopy and confirmed histologically. The accuracy of TVS for diagnosing DE involving the USLs, TU or PVF was assessed. Additionally, the association of DE involving the USLs, TU or PVF on TVS with symptoms and with DE affecting other pelvic locations was assessed. RESULTS: In total, 172 patients were included. The global sensitivity and specificity of TVS in diagnosing DE affecting the USLs, TU and/or PVF were 92% and 87%, respectively. For DE involving the USLs, the accuracy, sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), positive likelihood ratio and negative likelihood ratio of TVS were 89.5%, 96.6%, 82.1%, 85.0%, 95.8%, 5.41 and 0.04, respectively; the respective values for DE involving the TU were 86.6%, 83.9%, 89.4%, 89.0%, 84.4%, 7.92 and 0.18, and the respective values for DE involving the PVF were 93.6%, 87.0%, 94.6%, 71.4%, 97.9%, 16.20 and 0.14. Logistic regression analysis showed a significant association between DE affecting the USLs, TU and/or PVF and DE affecting the rectosigmoid (odds ratio, 5.43; P < 0.001). Dyschezia was associated strongly with DE involving the USLs, TU and PVF, while dysmenorrhea was associated significantly with DE involving the TU. CONCLUSION: TVS has high accuracy, sensitivity, specificity, PPV and NPV for the detection of DE involving the USLs, TU and PVF in women with suspected endometriosis scheduled for laparoscopic surgery. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.

Bowel preparation prior to transvaginal ultrasound improves detection of rectosigmoid deep infiltrating endometriosis and is well tolerated: prospective study of women with suspected endometriosis without surgical criteria.

OBJECTIVES: To analyze the effect of bowel preparation prior to transvaginal ultrasound (TVS) examination on the detection of bowel involvement and the description of rectosigmoid nodules of deep infiltrating endometriosis (DIE), and to evaluate patient tolerance of bowel preparation. METHODS: This was a prospective study of paired data obtained between September 2015 and March 2016 from a cohort of women referred, on suspicion of DIE but without surgical criteria, to the endometriosis unit of a tertiary university hospital. In all patients, the wall of the rectum and lower sigmoid colon was evaluated by two TVS examinations: the first was performed without bowel preparation and the second was done after the patient had followed a 3-day low-residue diet and received two 250-mL enemas, one the night before TVS and the second 1-3 h before the examination. The presence of adhesions, number and size of rectosigmoid nodules, deepest layer of the rectum affected, percentage of the circumference of the bowel affected and distance from the most caudal part of the bowel nodule to the anal verge were determined. Patient tolerance to bowel preparation was assessed using a 5-point Likert scale, in which 1 represented 'very well tolerated' and 5 represented 'very poorly tolerated'. RESULTS: The mean ± SD age of the 110 patients included in the study was 36.8 ± 5.07 years. As many as 55% of those identified during the first examination (TVS alone) as having adhesions were identified at the second examination (TVS with prior bowel preparation) as having rectosigmoid nodules, and 22 additional nodules were observed on TVS following bowel preparation. These newly detected rectosigmoid nodules, initially assessed mainly as adhesions, were smaller and more superficial compared with the nodules detected on TVS alone, or located in the anterior sigmoid wall. Patient tolerance overall to bowel preparation scored a mean of 1.81 on the 5-point Likert scale. CONCLUSIONS: Bowel preparation is well tolerated by patients. When bowel preparation is performed before TVS, the detection of small and superficial nodules and those in the anterior sigmoid wall is improved, allowing more detailed description of these nodules in patients with suspected endometriosis. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd.

[Laparoscopic surgery in the COVID-19 era]. / Cirugía laparoscópica en tiempos de COVID-19.

Coexistence with COVID-19 infection (coronavirus disease 2019) in all hospital and health care settings is a current challenge of adaptation, as well as the creation of new protocols and care models. At present, there are still many unknowns about this infection, and much more unknown is the impact into the surgical field. Although evidence regarding the effect of SARS-CoV-2 and laparoscopic surgery is scarce, laparoscopy has been considered the method of choice by different scientific societies for most indications in gynaecology during the COVID-19 pandemic. This is due to the advantages over the open route. There is less morbidity and hospital stay, and in addition, as it involves autonomous and contained surgical procedures with respect to smoke release. Moreover, the instruments and the setting in the operating room mean that there can be safe distance from the surgeon and other staff to the patient. Overall, the main recommendations in laparoscopic surgery during the COVID era include: the use of Personal Protective Equipment for operating room personnel, and the adoption of safety measures to reduce CO2 exposure and surgical smoke release.

Sonographic Measurement of the Patellar Tendon Should Predict Autograft Bone Patellar Tendon Bone (BPTB) Size: Comparison of Anatomical and Clinical Findings.

The use of BPTB autograft is frequently used in ACL reconstruction, however, the risk of potential failure in patients with an anatomically unfavorable patellar tendon may predispose to reconstruction failure. Anatomical study of the extensor apparatus of the knee can provide knowledge about the best option obtain the graft and perform a better preoperative planning. Musculoskeletal ultrasound is a simple, reproducible, affordable technique that could be valid for patellar tendon evaluation. The objective of this study is to evaluate the reproducibility of the patellar tendon measurements by ultrasound and compare them with anatomical measurements, both in cadaver and patients undergoing ACLR. The study consists of two phases; first anatomical study in cadaver. The ultrasound measurement was performed by determining the length, width and thickness of the patellar tendon, both by ultrasound and anatomical dissection. The second phase is a cohort of 42 patients pending surgical ACLR. Previous ultrasound and intraoperative measurements were obtained. Regarding the anatomical study, statistical analysis did not show any differences comparing the measurements in length (p = ns) and thickness (p = ns) of the patellar tendon, although differences were obtained when comparing the results obtained for the width of the tendon after the ultrasound and anatomical measurement (p < 0.001). Same results were obtained in second phase of the study. The reproducibility of ultrasound measurements of the PT is comparable to intraoperatively measurements (without width measurement). These findings can be useful for preoperative planning in the reconstruction of ACL with BPTB Graft and to assess technical modifications prior to surgery.

Providing straw to allow exploratory behaviour in a pig experimental system does not modify putative indicators of positive welfare: peripheral oxytocin and serotonin.

Numerous studies have shown that providing straw to pigs can reduce undesirable behaviours such as aggression, tail biting and stereotypy. The measurement of various neuromodulators can be helpful in assessing the development of positive behaviours and overall animal welfare. The oxytocin release is frequently linked to positive emotions and positive welfare. It has been suggested that oxytocin modulates the serotoninergic system. This study aims to investigate the potential effect of straw provision in pigs on peripheral levels of oxytocin and serotonin. In total, 18 mini-pigs were involved in an exploratory study conducted in two parallel groups, Enriched (n=10) and Control (n=8) groups. Pigs were divided by group and housed in pens of two individuals. Straw was provided continuously only in Enriched group and renewed each day for 2 weeks. Two blood samples were drawn from each animal 5 to 10 min before providing the straw, and 15 min after providing straw, during the 1st week, to analyse peripheral changes in oxytocin and serotonin before and after straw provision, and determine the existence of a putative short-term effect. The same procedure was carried out for Control group, without straw provision. Long-term effects of straw provision were also examined using blood samples drawn at the same hour from each animal in the 2nd and 3rd weeks. During this time, animals had the permanent possibility to explore the straw in Enriched group but not in Control group. At the end of each week, one animal-keeper completed two visual analogue scales for each mini-pig regarding the difficulty/ease to work with and handle it and its trust in humans. Results showed peripheral oxytocin increases in both groups after 2 weeks (P=0.02). Results did not demonstrate any effect of providing straw to allow exploratory behaviour on peripheral serotonin. Other results were not significant. This preliminary study explored the relationship between peripheral oxytocin and serotonin and the presence of straw that allow pigs to perform exploratory behaviour, suggesting that there was no relationship between them. Some future studies may include crossing oxytocin and serotonin with other parameters, such as behavioural measures, to obtain more information about the true state of the animal and any possible relationship with pig welfare.

Intra-individual comparison of (68)Ga-PSMA-11-PET/CT and multi-parametric MR for imaging of primary prostate cancer.

PURPOSE: Multi-parametric magnetic resonance imaging (MP-MRI) is currently the most comprehensive work up for non-invasive primary tumor staging of prostate cancer (PCa). Prostate-specific membrane antigen (PSMA)-Positron emission tomography-computed tomography (PET/CT) is presented to be a highly promising new technique for N- and M-staging in recurrent PCa-patients. The actual investigation analyses the potential of (68)Ga-PSMA11-PET/CT to assess the extent of primary prostate cancer by intra-individual comparison to MP-MRI. METHODS: In a retrospective study, ten patients with primary PCa underwent MP-MRI and PSMA-PET/CT for initial staging. All tumors were proven histopathological by biopsy. Image analysis was done in a quantitative (SUVmax) and qualitative (blinded read) fashion based on PI-RADS. The PI-RADS schema was then translated into a 3D-matrix and the euclidian distance of this coordinate system was used to quantify the extend of agreement. RESULTS: Both MP-MRI and PSMA-PET/CT presented a good allocation of the PCa, which was also in concordance to the tumor location validated in eight-segment resolution by biopsy. An Isocontour of 50 % SUVmax in PSMA-PET resulted in visually concordant tumor extension in comparison to MP-MRI (T2w and DWI). For 89.4 % of sections containing a tumor according to MP-MRI, the tumor was also identified in total or near-total agreement (euclidian distance ≤1) by PSMA-PET. Vice versa for 96.8 % of the sections identified as tumor bearing by PSMA-PET the tumor was also found in total or near-total agreement by MP-MRI. CONCLUSIONS: PSMA-PET/CT and MP-MRI correlated well with regard to tumor allocation in patients with a high pre-test probability for large tumors. Further research will be needed to evaluate its value in challenging situation such as prostatitis or after repeated negative biopsies.

PSMA PET/CT with Glu-urea-Lys-(Ahx)-[68Ga(HBED-CC)] versus 3D CT volumetric lymph node assessment in recurrent prostate cancer.

PURPOSE: PET/CT with the PSMA ligand is a powerful new method for the early detection of nodal metastases in patients with biochemical relapse. The purpose of this retrospective investigation was to evaluate the volume and dimensions of nodes identified by Glu-urea-Lys-(Ahx)-[(68)Ga(HBED-CC)] ((68)Ga-PSMA-11) in the setting of recurrent prostate cancer. METHODS: All PET/CT images were acquired 60 ± 10 min after intravenous injection of (68)Ga-PSMA-11 (mean dose 176 MBq). In 21 patients with recurrent prostate cancer and rising PSA, 49 PSMA-positive lymph nodes were identified. Using semiautomated lymph node segmentation software, node volume and short-axis and long-axis dimensions were measured and compared with the maximum standardized uptake values (SUVmax). Round nodes greater than or equal to 8 mm were considered positive by morphological criteria alone. The percentage of nodes identified by elevated SUVmax but not by conventional morphological criteria was determined. RESULTS: The mean volume of (68)Ga-PSMA-11-positive nodes was 0.5 ml (range 0.2 - 2.3 ml), and the mean short-axis diameter was 5.8 mm (range 2.4 - 13.3 mm). In 7 patients (33.3 %) with 31 PSMA-positive nodes only 11 (36 %) were morphologically positive based on diameters >8 mm on CT. In the remaining 14 patients (66.7 %), 18 (37 %) of PSMA positive lymph nodes had short-axis diameters <8 mm with a mean short-axis diameter of 5.0 mm (range 2.4 - 7.9 mm). Thus, in this population, (68)Ga-PSMA-11 PET/CT detected nodal recurrence in two-thirds of patients who would have been missed using conventional morphological criteria. CONCLUSION: (68)Ga-PSMA-11 PET/CT is more sensitive than CT based 3D volumetric lymph node evaluation in determining the node status of patients with recurrent prostate cancer, and is a promising method of restaging prostate cancers in this setting.

Drug eruptions induced by telaprevir in patients with chronic hepatitis C virus genotype 1 infection: a prospective study.

INTRODUCTION: When co-administered with interferon and ribavirin, the prescription drug telaprevir significantly improves treatment response in patients with chronic hepatitis C virus (HCV) infection. Its use, however, also increases the likelihood of adverse effects that may lead to discontinuation of treatment. Cutaneous adverse effects are particularly common. OBJECTIVE: To determine the frequency and clinical characteristics of drug eruptions induced by telaprevir in patients receiving HCV treatment and to analyze the clinical course of lesions and response to treatment. MATERIAL AND METHODS: We performed a prospective observational study of all patients who started a treatment regimen that included telaprevir between May 2012 and July 2013. We recorded the demographic characteristics of the patients who developed telaprevir-induced eruptions, and analyzed the clinical characteristics of the lesions and their clinical course following the application of guideline-based treatment recommendations. RESULTS: Twenty (46%) of the 43 patients who received triple therapy with interferon, ribavirin, and telaprevir during the study period developed drug reactions attributable to telaprevir. The reaction was classified as mild or moderate (grades 1 or 2) in 90% of cases and consisted of an exanthem with erythematous-edematous scaling plaques and papules. The rash worsened, mainly by spreading, in about one-third of cases. The skin lesions led to discontinuation of treatment in 2 patients (4.6%). Sustained viral response was achieved in 34 patients (79%). CONCLUSIONS: Telaprevir-induced eruptions are common and often progress, but they rarely require patients to discontinue treatment.

Aplicación coadyuvante de plasma rico en factores de crecimiento en rotura bilateral de tendón cuadricipital / Adjuvant administration of plasma rich in growth factors for bilateral quadriceps tendon tear

Antecedentes: Las roturas bilaterales de tendones cuadricipitales son enfermedades de muy baja frecuencia. Las reparaciones quirúrgicas suelen ser los tratamientos más adecuados y exigen tiempos de recuperación de varios meses. Métodos: Presentamos el caso de un paciente con rotura bilateral de tendones cuadricipitales tras un traumatismo de baja energía, que fue tratado mediante sutura transpatelar quirúrgica reforzada con plasma rico en factores de crecimiento (PRGF-Endoret). Resultados: Los resultados a corto plazo evidenciaron una recuperación funcional y mediante imagen en poco más de dos meses. Conclusiones: La utilización de PRGF asociado a la cirugía habitual puede ayudar a la realización de una rehabilitación precoz.

Background: Bilateral quadriceps tendon tears are infrequent conditions. Surgical repairs are the most appropriate treatments and they involve several months of recovery. Methods: We report the case of a patient with bilateral quadriceps tendon tear resulting from low energy trauma. He was treated with surgical transpatellar suturing reinforced with plasma rich in growth factors (PRGF-Endoret). Results: Short-term results showed functional and radiological recovery at the two-months follow-up. The use of PRGF together with usual surgery may contribute to early rehabilitation.

[Adjuvant administration of plasma rich in growth factors for bilateral quadriceps tendon tear]. / Aplicación coadyuvante de plasma rico en factores de crecimiento en rotura bilateral de tendón cuadricipital.

BACKGROUND: Bilateral quadriceps tendon tears are infrequent conditions. Surgical repairs are the most appropriate treatments and they involve several months of recovery. METHODS: We report the case of a patient with bilateral quadriceps tendon tear resulting from low energy trauma. He was treated with surgical transpatellar suturing reinforced with plasma rich in growth factors (PRGF-Endoret). RESULTS: Short-term results showed functional and radiological recovery at the two-months follow-up. The use of PRGF together with usual surgery may contribute to early rehabilitation.

First successful double-factor PGD for Lynch syndrome: monogenic analysis and comprehensive aneuploidy screening.

Preimplantation genetic diagnosis (PGD) has been applied worldwide for a great variety of single-gene disorders over the last 20 years. The aim of this work was to perform a double-factor preimplantation genetic diagnosis (DF-PGD) protocol in a family at risk for Lynch syndrome. The family underwent a DF-PGD approach in which two blastomeres from each cleavage-stage embryo were biopsied and used for monogenic and comprehensive cytogenetic analysis, respectively. Fourteen embryos were biopsied for the monogenic disease and after multiple displacement amplification (MDA), 12 embryos were diagnosed; 5 being non-affected and 7 affected by the disease. Thirteen were biopsied to perform the aneuploidy screening by short-comparative genomic hybridization (CGH). The improved DF-PGD approach permitted the selection of not only healthy but also euploid embryos for transfer. This has been the first time a double analysis of embryos has been performed in a family affected by Lynch syndrome, resulting in the birth of two healthy children. The protocol described in this work offers a reliable alternative for single-gene disorder assessment together with a comprehensive aneuploidy screening of the embryos that may increase the chances of pregnancy and birth of transferred embryos.

Epigenetic cancer therapy: rationales, targets and drugs.

The fundamental role of altered epigenetic modification patterns in tumorigenesis establishes epigenetic regulatory enzymes as important targets for cancer therapy. Over the past few years, several drugs with an epigenetic activity have received approval for the treatment of cancer patients, which has led to a detailed characterization of their modes of action. The results showed that both established drug classes, the histone deacetylase (HDAC) inhibitors and the DNA methyltransferase inhibitors, show substantial limitations in their epigenetic specificity. HDAC inhibitors are highly specific drugs, but the enzymes have a broad substrate specificity and deacetylate numerous proteins that are not associated with epigenetic regulation. Similarly, the induction of global DNA demethylation by non-specific inhibition of DNA methyltransferases shows pleiotropic effects on epigenetic regulation with no apparent tumor-specificity. Second-generation azanucleoside drugs have integrated the knowledge about the cellular uptake and metabolization pathways, but do not show any increased specificity for cancer epigenotypes. As such, the traditional rationale of epigenetic cancer therapy appears to be in need of refinement, as we move from the global inhibition of epigenetic modifications toward the identification and targeting of tumor-specific epigenetic programs. Recent studies have identified epigenetic mechanisms that promote self-renewal and developmental plasticity in cancer cells. Druggable somatic mutations in the corresponding epigenetic regulators are beginning to be identified and should facilitate the development of epigenetic therapy approaches with improved tumor specificity.

Whole-chromosome aneuploidy analysis in human oocytes: focus on comparative genomic hybridization.

The study of aneuploidy in human oocytes, discarded from IVF cycles, has provided a better understanding of the incidence of aneuploidy of female origin and the responsible mechanisms. Comparative genomic hybridization (CGH) is an established technique that allows for the detection of aneuploidy in all chromosomes avoiding artifactual chromosome losses. In this review, results obtained using CGH in single cells (1PB and/or MII oocytes) are included. The results of oocyte aneuploidy rates obtained by CGH from discarded oocytes of IVF patients and of oocyte donors are summarized. Moreover, the mechanisms involved in the aneuploid events, e.g. whether alterations occurred due to first meiotic errors or germ-line mitotic errors are also discussed. Finally, the incidence of aneuploid oocyte production due to first meiotic errors and germ-line mitotic errors observed in oocytes coming from IVF patients and IVF oocyte donors was assessed.

Reliability of short comparative genomic hybridization in fibroblasts and blastomeres for a comprehensive aneuploidy screening: first clinical application.

BACKGROUND: Comparative genomic hybridization (CGH) is a valuable alternative to fluorescence in situ hybridization (FISH) for preimplantation genetic screening (PGS) because it allows full karyotype analysis. However, this approach requires the cryopreservation of biopsied embryos until results are available. The aim of this study is to reduce the hybridization period of CGH, in order to make this short-CGH technique suitable for PGS of Day-3 embryos, avoiding the cryopreservation step. METHODS: Thirty-two fibroblasts from six aneuploid cell lines (Coriell) and 48 blastomeres from 10 Day-4 embryos, discarded after PGS by FISH with 9 probes (9-chr-FISH), were analysed by short-CGH. A reanalysis by the standard 72 h-CGH and FISH using telomeric probes was performed when no concordant results between short-CGH and FISH diagnosis were observed. The short-CGH was subsequently applied in a clinical case of advanced maternal age. RESULTS: In 100% of the fibroblasts analysed, the characteristic aneuploidies of each cell line were detected by short-CGH. The results of the 48 blastomeres screened by short-CGH were supported by both 72 h-CGH results and FISH reanalysis. The chromosomes most frequently involved in aneuploidy were 22 and 16, but aneuploidies for the other chromosomes, excepting 1, 10 and 13, were also detected. Forty-one of the 94 aneuploid events observed (43.6%) corresponded to chromosomes which are not analysed by 9-chr-FISH. CONCLUSIONS: We have performed a preliminary validation of the short-CGH technique, including one clinical case, suggesting this approach may be applied to Day-3 aneuploidy analysis, thereby avoiding embryo cryopreservation and perhaps helping to improve implantation rate after PGS.

[Values of high-density lipoprotein cholesterol in the pediatric population and risk of thrombosis]. / Valores de colesterol HDL en la población infantil y riesgo trombótico.

INTRODUCTION: There is evidence of the protective effect of high-density lipoprotein (HDL)-cholesterol against atheroma plaque formation and of its role in cholesterol efflux from cells, as well as its anti-oxidative and inflammatory modulating response properties. Low HDL-cholesterol levels have been associated with a prothrombotic state. OBJECTIVE: To determine the relationship between HDL-cholesterol and lipidic and hemostatic parameters. PATIENTS AND METHODS: We studied 110 children (50 girls, 60 boys) aged between 6 and 7 years old. Lipid profile, D-dimer, plasminogen activator inhibitor (PAI) and fibrinogen were determined. RESULTS: The mean values of the studied parameters were as follows: total cholesterol (192.92+/-26.01 mg/dl), HDL-cholesterol (72.87+/-15.69 mg/dl), low-density lipoprotein-cholesterol (109.46+/-23.30 mg/dl), triglycerides (56.24+/-20.35 mg/dl), apolipoprotein B (91.96+/-14.93 mg/dl), apolipoprotein A1 (168.4+/-24.55 mg/dl), lipoprotein(a) logarithm (1.76+/-1.36 mg/dl), plasminogen activator inhibitor-1 logarithm (PAI-1) (3.77+/-3.93 U/ml), D-dimer logarithm (5.53+/-0.49 ng/ml) and fibrinogen (268.61+/-48.59 mg/dl). When the sample was divided into two groups according to HDL-cholesterol levels, children with lower levels showed significantly higher values of total cholesterol/HDL-cholesterol, fibrinogen and PAI. HDL-cholesterol levels were directly and significantly associated with total cholesterol and apolipoprotein A1 and negatively and significantly associated with the total cholesterol/HDL-cholesterol ratio, fibrinogen and PAI. CONCLUSION: The children studied had high HDL-cholesterol levels, which could be responsible for the high total cholesterol levels. High values of HDL-cholesterol are significantly associated with a reduction in thrombotic risk.

Early posttransplant lymphoproliferative disease in pediatric liver transplant recipients.

Among 23 pediatric patients who underwent orthotopic liver transplant (OLT), we report two (11 and 26 months old) with posttransplant lymphoproliferative disease (PTLD) that occurred in the early posttransplantation period. They were Epstein-Barr Virus (EBV)-negative and received graft from EBV-positive donors. The surveillance for EBV viremia using serial EBV polymerase chain reaction determinations in the peripheral blood was positive at 10 and 90 days after OLT concomitant with symptoms of primary infection, both patients were treated with gancyclovir. The patients should progression to a Burkitt's and a non-Hodgkin's lymphoma that appeared 3 months posttransplantation. They were treated by withdrawal of immunosuppression and six courses of cyclophosphamide as well as anti-CD20 monoclonal antibody (Rituximab) every 21 days. One patient experienced acute graft rejection, which resolved with steroids and low doses of tacrolimus, she is free of disease at 24 months after the end of treatment. The other patient relapsed with a cerebral lymphoma, receiving aggressive chemotherapy, but died due to sepsis. In conclusion, PTLD occurred among in 2/23 patients who underwent OLT and appeared in the first quarter post OLT. The risk factors associated with early PTLD were primary EBV infection after OLT, young age, and EBV-negative recipient receiving a transplant from an EBV-positive donor. Antiviral treatment alone was inefficient; withdrawal of immunosuppression and courses of Rituximab and cyclophosphamide were well tolerated and controlled PTLD. The risk of graft rejection was increased by withdrawal of immunosuppression. One patient died.

[Correlation of lipid profiles and anthropometric variables with serum lipoprotein(a) levels in childhood]. / Correlación de los perfiles lipoproteicos y variables antropométricas con concentraciones séricas de lipoproteína(a) en la infancia.

The aim of the present study was to evaluate lipoprotein(a) distribution in children and to assess its association with lipid profile and anthropometric variables. We studied 98 children (44 girls and 54 boys) with ages ranging from 6 to 7 years, who were included in an epidemiological study on the prevalence of hypercholesterolemia in children in the province of Biscay. The following parameters were determined: weight and height, body mass index, lipoprotein(a), and lipid profile. Lipid profile included total cholesterol, high-density lipoprotein (HDL)-cholesterol, low-density lipoprotein (LDL)-cholesterol, triglycerides, apolipoprotein B, and apolipoprotein A1. The mean and median serum lipoprotein(a) levels were 13.07 and 5.56 mg/dl respectively and were 11.43 and 3.92 mg/dl for boys and 15.09 and 8.32 mg/dl for girls. Lipoprotein(a) concentrations > 30 mg/dl were found in 7.4% of the boys and in 11.4% of the girls. The mean values and prevalences of lipoprotein(a) > 30 mg/dl were lower in boys than in girls but these differences were not statistically significant. A positive correlation was found between lipid profile (LDL-cholesterol, apolipoprotein B and LDL-cholesterol/HDL-cholesterol index) and lipoprotein(a) levels. When evaluating anthropometric variables, we found a statistically significant inverse correlation between weight and lipoprotein(a). In view of the cumulative effect of cardiovascular risk factors and the results of this study, we believe that lipoprotein(a) determination should be considered in children with an unfavorable lipid profile.