Laparoscopic management of a cavitated noncommunicating rudimentary uterine horn of a unicornuate uterus: a case report

<p>Abstract</p> <p>Introduction</p> <p>A unicornuate uterus with a rudimentary horn is the most uncommon uterine anomaly of the female genital tract. It has an estimated frequency of one in 100,000 among the fertile female population. This anomaly results from the abnormal maturation of one Müllerian duct with the normal development of the contralateral one.</p> <p>Case presentation</p> <p>We report here the case of a 14-year-old Caucasian girl who came to our hospital with intense dysmenorrhea. Imaging techniques revealed a unicornuate uterus with a rudimentary horn and a large hematosalpinx. We performed a laparoscopic removal of this uterine anomaly without any complication in the postoperative period.</p> <p>Conclusion</p> <p>In our case report, we demonstrate that laparoscopy is the best approach for the treatment of IIb Müllerian abnormalities. Laparoscopy resulted in anatomical and reproductive results equivalent to those offered by a laparotomic approach, but with the additional advantages of minimally invasive surgery, such as better cosmetic results and postoperative period, which are essential for very young patients.</p

Thyroid nodules in children

Introduction and objective: Thyroid nodules in children are rare (2% of children have palpable thyroid nodules and 5% of children have thyroid nodules by ultrasonography)./nMost of these are benign and asymptomatic, but the percentage of nodules harboring cancer in children is higher than in adults: the rate of malignancy varies from 10 to 50% depending on published case series. For this reason, it is very important evaluating and monitoring the thyroid nodules in children./nSynthesis: The thyroid gland in children is more susceptible to certain carcinogenic agents than the thyroid gland in adults. Thus, clinical following of the thyroid nodules in children is very important./nThe American Thyroid Association (ATA) recognized that size criterion for performing fine-needle aspiration (FNA) in adults may not be appropriate in a growing thyroid gland in children. For this reason, the ATA recommended that ultrasound characterization and clinical context should be used in the evaluation./nBenign thyroid nodules must be monitored by periodic neck palpation and ultrasound examinations, so that if a significant increase in size is detected, it may lead to consider repeating FNA or performing a surgical excision./nConclusions: Clinical and ultrasonographic monitoring in thyroid nodule in children is very important due to its higher rate of malignancy than in adults.Introducción y objetivo: Los nódulos tiroideos son poco frecuentes en la infancia (2% de niños tienen nódulos palpables y un 5% de niños tienen nódulos detectados por ecografía). La mayoría son benignos y asintomáticos. Pero a diferencia de lo que sucede en el adulto, el riesgo de malignización de los mismos es mayor, de modo que, dependiendo de las series la tasa de malignidad se sitúa entre 10-50%. De ahí la importancia de hacer un seguimiento clínico adecuado./nSíntesis: La glándula tiroidea del niño es más sensible al efecto de determinados agentes carcinogénicos que la del adulto. Esto hace que el seguimiento de los nódulos tiroideos del niño que, en su mayoría son benignos y asintomáticos, cobre especial importancia./nLa American Thyroid Association (ATA) determinó que el criterio de tamaño utilizado en adultos para indicar punción aspiración con aguja fina (PAAF) podía no ser apropiado para la glándula del niño que está en crecimiento, por lo que recomendó también tener en cuenta las características ecográficas y el contexto clínico./nAnte los nódulos tiroideos benignos, se recomienda seguimiento clínico y ecográfico y ante aumentos de tamaño significativos, reconsiderar PAAF o cirugía./nConclusiones: Es importante hacer un seguimiento clínico y ecográfico en el nódulo tiroideo del niño por su mayor riesgo de malignización.Introduction and objective: Thyroid nodules in children are rare (2% of children have palpable thyroid nodules and 5% of children have thyroid nodules by ultrasonography)./nMost of these are benign and asymptomatic, but the percentage of nodules harboring cancer in children is higher than in adults: the rate of malignancy varies from 10 to 50% depending on published case series. For this reason, it is very important evaluating and monitoring the thyroid nodules in children./nSynthesis: The thyroid gland in children is more susceptible to certain carcinogenic agents than the thyroid gland in adults. Thus, clinical following of the thyroid nodules in children is very important./nThe American Thyroid Association (ATA) recognized that size criterion for performing fine-needle aspiration (FNA) in adults may not be appropriate in a growing thyroid gland in children. For this reason, the ATA recommended that ultrasound characterization and clinical context should be used in the evaluation./nBenign thyroid nodules must be monitored by periodic neck palpation and ultrasound examinations, so that if a significant increase in size is detected, it may lead to consider repeating FNA or performing a surgical excision./nConclusions: Clinical and ultrasonographic monitoring in thyroid nodule in children is very important due to its higher rate of malignancy than in adults.Introducción y objetivo: Los nódulos tiroideos son poco frecuentes en la infancia (2% de niños tienen nódulos palpables y un 5% de niños tienen nódulos detectados por ecografía). La mayoría son benignos y asintomáticos. Pero a diferencia de lo que sucede en el adulto, el riesgo de malignización de los mismos es mayor, de modo que, dependiendo de las series la tasa de malignidad se sitúa entre 10-50%. De ahí la importancia de hacer un seguimiento clínico adecuado./nSíntesis: La glándula tiroidea del niño es más sensible al efecto de determinados agentes carcinogénicos que la del adulto. Esto hace que el seguimiento de los nódulos tiroideos del niño que, en su mayoría son benignos y asintomáticos, cobre especial importancia./nLa American Thyroid Association (ATA) determinó que el criterio de tamaño utilizado en adultos para indicar punción aspiración con aguja fina (PAAF) podía no ser apropiado para la glándula del niño que está en crecimiento, por lo que recomendó también tener en cuenta las características ecográficas y el contexto clínico./nAnte los nódulos tiroideos benignos, se recomienda seguimiento clínico y ecográfico y ante aumentos de tamaño significativos, reconsiderar PAAF o cirugía./nConclusiones: Es importante hacer un seguimiento clínico y ecográfico en el nódulo tiroideo del niño por su mayor riesgo de malignización

Lethal congenital contracture syndrome 11: A case report and literature review

Lethal congenital contracture syndrome 11 (LCCS11) is caused by homozygous or compound heterozygous variants in the GLDN gene on chromosome 15q21. GLDN encodes gliomedin, a protein required for the formation of the nodes of Ranvier and development of the human peripheral nervous system. We report a fetus with ultrasound alterations detected at 28 weeks of gestation. The fetus exhibited hydrops, short long bones, fixed limb joints, absent fetal movements, and polyhydramnios. The pregnancy was terminated and postmortem studies confirmed the prenatal findings: distal arthrogryposis, fetal growth restriction, pulmonary hypoplasia, and retrognathia. The fetus had a normal chromosomal microarray analysis. Exome sequencing revealed two novel compound heterozygous variants in the GLDN associated with LCCS11. This manuscript reports this case and performs a literature review of all published LCCS11 cases

Challenges for Sustained Observing and Forecasting Systems in the Mediterranean Sea

The Mediterranean community represented in this paper is the result of more than 30 years of EU and nationally funded coordination, which has led to key contributions in science concepts and operational initiatives. Together with the establishment of operational services, the community has coordinated with universities, research centers, research infrastructures and private companies to implement advanced multi-platform and integrated observing and forecasting systems that facilitate the advancement of operational services, scientific achievements and mission-oriented innovation. Thus, the community can respond to societal challenges and stakeholders needs, developing a variety of fit-for-purpose services such as the Copernicus Marine Service. The combination of state-of-the-art observations and forecasting provides new opportunities for downstream services in response to the needs of the heavily populated Mediterranean coastal areas and to climate change. The challenge over the next decade is to sustain ocean observations within the research community, to monitor the variability at small scales, e.g., the mesoscale/submesoscale, to resolve the sub-basin/seasonal and inter-annual variability in the circulation, and thus establish the decadal variability, understand and correct the model-associated biases and to enhance model-data integration and ensemble forecasting for uncertainty estimation. Better knowledge and understanding of the level of Mediterranean variability will enable a subsequent evaluation of the impacts and mitigation of the effect of human activities and climate change on the biodiversity and the ecosystem, which will support environmental assessments and decisions. Further challenges include extending the science-based added-value products into societal relevant downstream services and engaging with communities to build initiatives that will contribute to the 2030 Agenda and more specifically to SDG14 and the UN's Decade of Ocean Science for sustainable development, by this contributing to bridge the science-policy gap. The Mediterranean observing and forecasting capacity was built on the basis of community best practices in monitoring and modeling, and can serve as a basis for the development of an integrated global ocean observing system

Challenges for Sustained Observing and Forecasting Systems in the Mediterranean Sea

The Mediterranean community represented in this paper is the result of more than 30 years of EU and nationally funded coordination, which has led to key contributions in science concepts and operational initiatives. Together with the establishment of operational services, the community has coordinated with universities, research centers, research infrastructures and private companies to implement advanced multi-platform and integrated observing and forecasting systems that facilitate the advancement of operational services, scientific achievements and mission-oriented innovation. Thus, the community can respond to societal challenges and stakeholders needs, developing a variety of fit-for-purpose services such as the Copernicus Marine Service. The combination of state-of-the-art observations and forecasting provides new opportunities for downstream services in response to the needs of the heavily populated Mediterranean coastal areas and to climate change. The challenge over the next decade is to sustain ocean observations within the research community, to monitor the variability at small scales, e.g., the mesoscale/submesoscale, to resolve the sub-basin/seasonal and inter-annual variability in the circulation, and thus establish the decadal variability, understand and correct the model-associated biases and to enhance model-data integration and ensemble forecasting for uncertainty estimation. Better knowledge and understanding of the level of Mediterranean variability will enable a subsequent evaluation of the impacts and mitigation of the effect of human activities and climate change on the biodiversity and the ecosystem, which will support environmental assessments and decisions. Further challenges include extending the science-based added-value products into societal relevant downstream services and engaging with communities to build initiatives that will contribute to the 2030 Agenda and more specifically to SDG14 and the UN's Decade of Ocean Science for sustainable development, by this contributing to bridge the science-policy gap. The Mediterranean observing and forecasting capacity was built on the basis of community best practices in monitoring and modeling, and can serve as a basis for the development of an integrated global ocean observing system

The prediction of floods in Venice: methods, models and uncertainty (review article)

This paper reviews the state of the art in storm surge forecasting and its particular application in the northern Adriatic Sea. The city of Venice already depends on operational storm surge forecasting systems to warn the population and economy of imminent flood threats, as well as help to protect the extensive cultural heritage. This will be more important in the future, with the new mobile barriers called MOSE (MOdulo Sperimentale Elettromeccanico, Experimental Electromechanical Module) that will be completed by 2021. The barriers will depend on accurate storm surge forecasting to control their operation. In this paper, the physics behind the flooding of Venice is discussed, and the state of the art of storm surge forecasting in Europe is reviewed. The challenges for the surge forecasting systems are analyzed, especially in view of uncertainty. This includes consideration of selected historic extreme events that were particularly difficult to forecast. Four potential improvements are identified: (1) improve meteorological forecasts, (2) develop ensemble forecasting, (3) assimilation of water level measurements and (4) develop a multimodel approach

Association of Candidate Gene Polymorphisms With Chronic Kidney Disease: Results of a Case-Control Analysis in the Nefrona Cohort

Chronic kidney disease (CKD) is a major risk factor for end-stage renal disease, cardiovascular disease and premature death. Despite classical clinical risk factors for CKD and some genetic risk factors have been identified, the residual risk observed in prediction models is still high. Therefore, new risk factors need to be identified in order to better predict the risk of CKD in the population. Here, we analyzed the genetic association of 79 SNPs of proteins associated with mineral metabolism disturbances with CKD in a cohort that includes 2, 445 CKD cases and 559 controls. Genotyping was performed with matrix assisted laser desorption ionizationtime of flight mass spectrometry. We used logistic regression models considering different genetic inheritance models to assess the association of the SNPs with the prevalence of CKD, adjusting for known risk factors. Eight SNPs (rs1126616, rs35068180, rs2238135, rs1800247, rs385564, rs4236, rs2248359, and rs1564858) were associated with CKD even after adjusting by sex, age and race. A model containing five of these SNPs (rs1126616, rs35068180, rs1800247, rs4236, and rs2248359), diabetes and hypertension showed better performance than models considering only clinical risk factors, significantly increasing the area under the curve of the model without polymorphisms. Furthermore, one of the SNPs (the rs2248359) showed an interaction with hypertension, being the risk genotype affecting only hypertensive patients. We conclude that 5 SNPs related to proteins implicated in mineral metabolism disturbances (Osteopontin, osteocalcin, matrix gla protein, matrix metalloprotease 3 and 24 hydroxylase) are associated to an increased risk of suffering CKD

Role of age and comorbidities in mortality of patients with infective endocarditis

Purpose: The aim of this study was to analyse the characteristics of patients with IE in three groups of age and to assess the ability of age and the Charlson Comorbidity Index (CCI) to predict mortality. Methods: Prospective cohort study of all patients with IE included in the GAMES Spanish database between 2008 and 2015. Patients were stratified into three age groups:<65 years, 65 to 80 years, and = 80 years.The area under the receiver-operating characteristic (AUROC) curve was calculated to quantify the diagnostic accuracy of the CCI to predict mortality risk. Results: A total of 3120 patients with IE (1327 < 65 years;1291 65-80 years;502 = 80 years) were enrolled.Fever and heart failure were the most common presentations of IE, with no differences among age groups.Patients =80 years who underwent surgery were significantly lower compared with other age groups (14.3%, 65 years; 20.5%, 65-79 years; 31.3%, =80 years). In-hospital mortality was lower in the <65-year group (20.3%, <65 years;30.1%, 65-79 years;34.7%, =80 years;p < 0.001) as well as 1-year mortality (3.2%, <65 years; 5.5%, 65-80 years;7.6%, =80 years; p = 0.003).Independent predictors of mortality were age = 80 years (hazard ratio [HR]:2.78;95% confidence interval [CI]:2.32–3.34), CCI = 3 (HR:1.62; 95% CI:1.39–1.88), and non-performed surgery (HR:1.64;95% CI:11.16–1.58).When the three age groups were compared, the AUROC curve for CCI was significantly larger for patients aged <65 years(p < 0.001) for both in-hospital and 1-year mortality. Conclusion: There were no differences in the clinical presentation of IE between the groups. Age = 80 years, high comorbidity (measured by CCI), and non-performance of surgery were independent predictors of mortality in patients with IE.CCI could help to identify those patients with IE and surgical indication who present a lower risk of in-hospital and 1-year mortality after surgery, especially in the <65-year group

RICORS2040 : The need for collaborative research in chronic kidney disease

Chronic kidney disease (CKD) is a silent and poorly known killer. The current concept of CKD is relatively young and uptake by the public, physicians and health authorities is not widespread. Physicians still confuse CKD with chronic kidney insufficiency or failure. For the wider public and health authorities, CKD evokes kidney replacement therapy (KRT). In Spain, the prevalence of KRT is 0.13%. Thus health authorities may consider CKD a non-issue: very few persons eventually need KRT and, for those in whom kidneys fail, the problem is 'solved' by dialysis or kidney transplantation. However, KRT is the tip of the iceberg in the burden of CKD. The main burden of CKD is accelerated ageing and premature death. The cut-off points for kidney function and kidney damage indexes that define CKD also mark an increased risk for all-cause premature death. CKD is the most prevalent risk factor for lethal coronavirus disease 2019 (COVID-19) and the factor that most increases the risk of death in COVID-19, after old age. Men and women undergoing KRT still have an annual mortality that is 10- to 100-fold higher than similar-age peers, and life expectancy is shortened by ~40 years for young persons on dialysis and by 15 years for young persons with a functioning kidney graft. CKD is expected to become the fifth greatest global cause of death by 2040 and the second greatest cause of death in Spain before the end of the century, a time when one in four Spaniards will have CKD. However, by 2022, CKD will become the only top-15 global predicted cause of death that is not supported by a dedicated well-funded Centres for Biomedical Research (CIBER) network structure in Spain. Realizing the underestimation of the CKD burden of disease by health authorities, the Decade of the Kidney initiative for 2020-2030 was launched by the American Association of Kidney Patients and the European Kidney Health Alliance. Leading Spanish kidney researchers grouped in the kidney collaborative research network Red de Investigación Renal have now applied for the Redes de Investigación Cooperativa Orientadas a Resultados en Salud (RICORS) call for collaborative research in Spain with the support of the Spanish Society of Nephrology, Federación Nacional de Asociaciones para la Lucha Contra las Enfermedades del Riñón and ONT: RICORS2040 aims to prevent the dire predictions for the global 2040 burden of CKD from becoming true