Síndrome compartimental: una presentación atípica como causa de la púrpura de Henoch-Schönlein / Compartment syndrome: an atypical presentation as a cause of Henoch-Schönlein purpura

Resumen: Introducción: en la literatura existen escasos reportes de caso del desarrollo de síndrome compartimental como una potencial complicación de la púrpura de Henoch-Schönlein. Caso clínico: se presenta el caso clínico de una paciente de 17 años con un cuadro de síndrome compartimental bilateral en pies como presentación atípica de la púrpura de Henoch-Schönlein, nunca antes descrita en la literatura. Conclusión: con una rápida sospecha diagnóstica y un tratamiento quirúrgico con fasciotomías, se consiguió preservar la viabilidad de las extremidades y su funcionalidad a los seis meses de seguimiento, a pesar de tratarse de una presentación sumamente atípica de la patología en cuestión.

Abstract: Introduction: there are few case reports available that describe compartment syndrome as a complication of Henoch-Schönlein purpura. Case report: we report the case of a 17-year-old patient with bilateral compartment syndrome of the foot as an atypical presentation of Henoch-Schönlein purpura. A case like this has not been reported before. Conclusion: although the patient had an extremely rare clinical presentation, the viability and functionality of the limbs was preserved even after six months of follow-up thanks to an early diagnosis and surgical treatment.

Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare cancers.

BACKGROUND: Germline variant evaluation in precision oncology opens new paths toward the identification of patients with genetic tumor risk syndromes and the exploration of therapeutic relevance. Here, we present the results of germline variant analysis and their clinical implications in a precision oncology study for patients with predominantly rare cancers. PATIENTS AND METHODS: Matched tumor and control genome/exome and RNA sequencing was carried out for 1485 patients with rare cancers (79%) and/or young adults (77% younger than 51 years) in the National Center for Tumor Diseases/German Cancer Consortium (NCT/DKTK) Molecularly Aided Stratification for Tumor Eradication Research (MASTER) trial, a German multicenter, prospective, observational precision oncology study. Clinical and therapeutic relevance of prospective pathogenic germline variant (PGV) evaluation was analyzed and compared to other precision oncology studies. RESULTS: Ten percent of patients (n = 157) harbored PGVs in 35 genes associated with autosomal dominant cancer predisposition, whereof up to 75% were unknown before study participation. Another 5% of patients (n = 75) were heterozygous carriers for recessive genetic tumor risk syndromes. Particularly, high PGV yields were found in patients with gastrointestinal stromal tumors (GISTs) (28%, n = 11/40), and more specifically in wild-type GISTs (50%, n = 10/20), leiomyosarcomas (21%, n = 19/89), and hepatopancreaticobiliary cancers (16%, n = 16/97). Forty-five percent of PGVs (n = 100/221) supported treatment recommendations, and its implementation led to a clinical benefit in 40% of patients (n = 10/25). A comparison of different precision oncology studies revealed variable PGV yields and considerable differences in germline variant analysis workflows. We therefore propose a detailed workflow for germline variant evaluation. CONCLUSIONS: Genetic germline testing in patients with rare cancers can identify the very first patient in a hereditary cancer family and can lead to clinical benefit in a broad range of entities. Its routine implementation in precision oncology accompanied by the harmonization of germline variant evaluation workflows will increase clinical benefit and boost research.

Human papillomavirus infection and lung adenocarcinoma: special benefit is observed in patients treated with immune checkpoint inhibitors.

BACKGROUND: Human papilloma virus (HPV) has been associated with the development and modulation of response in a series of neoplasms. In the case of lung adenocarcinoma, its role in etiology and pathogenesis is still controversial. Considering that this infection brings foreign epitopes, it could be of prognostic significance in patients with lung adenocarcinoma treated with immunotherapy. METHODS: In a retrospective cohort study we evaluated the presence of HPV genomic material in lung adenocarcinoma primary lesions with the INNO-LiPA platform. Viral replication was also evaluated by detecting the presence of oncoprotein E6/E7 messenger RNA (mRNA) by quantitative RT-PCR. To confirm possible hypotheses regarding viral oncogenesis, vascular endothelial growth factor (VEGF) and hypoxia-inducible factor 1 (HIF1) were evaluated with stromal fibrosis and immunoscore. RESULTS: A total of 133 patients were included in the analysis, of whom 34 tested positive for HPV, reaching an estimated prevalence of 25.6% [95% confidence interval (CI) 18.2% to 32.9%]. E6/7 mRNA was identified in 28 out of the 34 previously positive cases (82.3%). In immune checkpoint inhibitor (ICI)-treated patients, the median overall survival reached 22.3 months [95% CI 19.4 months- not reached (NR)] for HPV-negative and was not reached in HPV-positive (HPV+) ones (95% CI 27.7-NR; P = 0.008). With regard to progression-free survival, HPV- patients reached a median of 9.2 months (95% CI 7.9-11.2 months) compared to 14.3 months (95% CI 13.8-16.4 months) when HPV was positive (P = 0.001). The overall response rate for HPV+ patients yielded 82.4% compared to 47.1% in negative ones. No differences regarding programmed death-ligand 1, VEGF, HIF1, stromal fibrosis, or immunoscore were identified. CONCLUSIONS: In patients with HPV+ lung adenocarcinoma, a significant benefit in overall response and survival outcomes is observed.

New Epidemiological Outcomes in Anthropophilic tinea capitis, a Case Series Study in Northwestern Spain.

Although zoophilic dermatophytes remain the predominant cause of tinea capitis in Spain, an increase due to anthropophilic species has been reported. We report a retrospective observational study that included twenty-four children, who were diagnosed with tinea capitis due to anthropophilic species between 2004 and 2019. 75% of the patients were males with a mean age of 4,88 years. We observed 83,3% of cases from Africa, 4,2% from South America and 12,5% from Spain. Clinically, 70,8% of the patients presented scaly patches and non-scaring alopecia. Trichophyton soudanense was the main dermatophyte of the series (45,8%), followed by Microsporum audouinii (20,8%), Trichophyton tonsurans (12,5%) and Trichophyton violaceum (12,5%). Although this pattern of infection appears to be linked to immigration from Africa, we saw three native cases. The easier transmission of anthropophilic rather than zoophilic dermatophytes could predict a rise in the incidence of tinea capitis and a public health problem.

New Epidemiological Outcomes in Anthropophilic tinea capitis, a Case Series Study in Northwestern Spain. / [Artículo traducido] Nuevos hallazgos epidemiológicos en la tinea capitis antropófila, un estudio de una serie de casos en el noroeste de España.

Although zoophilic dermatophytes remain the predominant cause of tinea capitis in Spain, an increase due to anthropophilic species has been reported. We report a retrospective observational study that included 24 children, who were diagnosed with tinea capitis due to anthropophilic species between 2004 and 2019. 75% of the patients were males with a mean age of 4,88 years. We observed 83,3% of cases from Africa, 4,2% from South America and 12,5% from Spain. Clinically, 70,8% of the patients presented scaly patches and non-scaring alopecia. Trichophyton soudanense was the main dermatophyte of the series (45,8%), followed by Microsporum audouinii (20,8%), Trichophyton tonsurans (12,5%) and Trichophyton violaceum (12,5%). Although this pattern of infection appears to be linked to immigration from Africa, we saw three native cases. The easier transmission of anthropophilic rather than zoophilic dermatophytes could predict a rise in the incidence of tinea capitis and a public health problem.

Spanish-language cognitive screening tests: a critical review.

INTRODUCTION: Dementia is a chronic, degenerative disease with a strong impact on families and health systems. The instruments currently in use for measuring cognitive impairment have different psychometric characteristics in terms of application time, cut-off point, reliability, and validity. The objective of this review is to describe the characteristics of the validated, Spanish-language versions of the Mini-Cog, Clock-Drawing Test, and Mini-Mental State Examination scales for cognitive impairment screening. DEVELOPMENT: We performed a three-stage literature search of articles published on Medline since 1953. We selected articles on validated, Spanish-language versions of the scales that included data on reliability, validity, sensitivity, and specificity. CONCLUSIONS: The 3 screening tools assessed in this article provide support for primary care professionals. Timely identification of mild cognitive impairment and dementia is crucial for the prognosis of these patients.

[Compartment syndrome: an atypical presentation as a cause of Henoch-Schönlein purpura]. / Síndrome compartimental: una presentación atípica como causa de la púrpura de Henoch-Schönlein.

INTRODUCTION: there are few case reports available that describe compartment syndrome as a complication of Henoch-Schönlein purpura. CASE REPORT: we report the case of a 17-year-old patient with bilateral compartment syndrome of the foot as an atypical presentation of Henoch-Schönlein purpura. A case like this has not been reported before. CONCLUSION: although the patient had an extremely rare clinical presentation, the viability and functionality of the limbs was preserved even after six months of follow-up thanks to an early diagnosis and surgical treatment.

INTRODUCCIÓN: en la literatura existen escasos reportes de caso del desarrollo de síndrome compartimental como una potencial complicación de la púrpura de Henoch-Schönlein. CASO CLÍNICO: se presenta el caso clínico de una paciente de 17 años con un cuadro de síndrome compartimental bilateral en pies como presentación atípica de la púrpura de Henoch-Schönlein, nunca antes descrita en la literatura. CONCLUSIÓN: con una rápida sospecha diagnóstica y un tratamiento quirúrgico con fasciotomías, se consiguió preservar la viabilidad de las extremidades y su funcionalidad a los seis meses de seguimiento, a pesar de tratarse de una presentación sumamente atípica de la patología en cuestión.

A new graph of soil Rn-gas transport: Radon-rose plot.

Soil radon gas movement depends on soil geology, environmental thermodynamic parameters and, micro-seismic telluric activity. Mapping radon time dependent concentration at the relaxation depth in a selected area, provide transport direction in a seismically high-risk region. Nuclear track methodology is employed to determine main gradient vector for radon transport. Applying the gradient definition, a "radon rose" graph is constructed from which prone area can be promptly identified. Results show that short time interval, Rn-transport direction may change unpredictably, however, the length of each "spoke" around the circle provides information on the soil Rn-gas probable shifts towards or from a direction per time interval. The new graph is a novelty and provide improved approach for environmental protection and radon dosimetry.

Mechanisms of checkpoint inhibition-induced adverse events.

Immune checkpoint inhibition has revolutionized the treatment of several solid cancers, most notably melanoma and non-small-cell lung cancer (NSCLC). Drugs targeting cytotoxic T lymphocyte antigen (CTLA)-4 and programmed cell death 1 (PD-1) have made their way into routine clinical use; however, this has not been without difficulties. Stimulation of the immune system to target cancer has been found to result in a reduction of self-tolerance, leading to the development of adverse effects that resemble autoimmunity. These adverse effects are erratic in their onset and severity and can theoretically affect any organ type. Several mechanisms for immune-related toxicity have been investigated over recent years; however, no consensus on the cause or prediction of toxicity has been reached. This review seeks to examine reported evidence for possible mechanisms of toxicity, methods for prediction of those at risk and a discussion of future prospects within the field.

Genome-Wide Association Studies for Methane Production in Dairy Cattle.

Genomic selection has been proposed for the mitigation of methane (CH4) emissions by cattle because there is considerable variability in CH4 emissions between individuals fed on the same diet. The genome-wide association study (GWAS) represents an important tool for the detection of candidate genes, haplotypes or single nucleotide polymorphisms (SNP) markers related to characteristics of economic interest. The present study included information for 280 cows in three dairy production systems in Mexico: 1) Dual Purpose (n = 100), 2) Specialized Tropical Dairy (n = 76), 3) Familiar Production System (n = 104). Concentrations of CH4 in a breath of individual cows at the time of milking (MEIm) were estimated through a system of infrared sensors. After quality control analyses, 21,958 SNPs were included. Associations of markers were made using a linear regression model, corrected with principal component analyses. In total, 46 SNPs were identified as significant for CH4 production. Several SNPs associated with CH4 production were found at regions previously described for quantitative trait loci of composition characteristics of meat, milk fatty acids and characteristics related to feed intake. It was concluded that the SNPs identified could be used in genomic selection programs in developing countries and combined with other datasets for global selection.

ECLIM-SEHOP, a new platform to set up and develop international academic clinical trials for childhood cancer and blood disorders in Spain.

INTRODUCTION: Cancer and blood disorders in children are rare. The progressive improvement in survival over the last decades largely relies on the development of international academic clinical trials that gather the sufficient number of patients globally to elaborate solid conclusions and drive changes in clinical practice. The participation of Spain into large international academic trials has traditionally lagged behind of other European countries, mainly due to the burden of administrative tasks to open new studies, lack of financial support and limited research infrastructure in our hospitals. METHODS: The objective of ECLIM-SEHOP platform (Ensayos Clínicos Internacionales Multicéntricos-SEHOP) is to overcome these difficulties and position Spain among the European countries leading the advances in cancer and blood disorders, facilitate the access of our patients to novel diagnostic and therapeutic approaches and, most importantly, continue to improve survival and reducing long-term sequelae. ECLIM-SEHOP provides to the Spanish clinical investigators with the necessary infrastructural support to open and implement academic clinical trials and registries. RESULTS: In less than 3 years from its inception, the platform has provided support to 20 clinical trials and 8 observational studies, including 8 trials and 4 observational studies where the platform performs all trial-related tasks (integral support: trial setup, monitoring, etc.) with more than 150 patients recruited since 2017 to these studies. In this manuscript, we provide baseline metrics for academic clinical trial performance that permit future comparisons. CONCLUSIONS: ECLIM-SEHOP facilitates Spanish children and adolescents diagnosed with cancer and blood disorders to access state-of-the-art diagnostic and therapeutic strategies.

Spanish-language screening scales: A critical review. / Escalas de tamizaje cognitivo en habla hispana: una revisión crítica.

INTRODUCTION: Dementia is a chronic, degenerative disease with a strong impact on families and health systems. The instruments currently in use for measuring cognitive impairment have different psychometric characteristics in terms of application time, cut-off point, reliability, and validity. The objective of this review is to describe the characteristics of the validated, Spanish-language versions of the Mini-Cog, Clock-Drawing Test, and Mini-Mental State Examination scales for cognitive impairment screening. DEVELOPMENT: We performed a three-stage literature search of articles published on Medline since 1953. We selected articles on validated, Spanish-language versions of the scales that included data on reliability, validity, sensitivity, and specificity. CONCLUSIONS: The 3 screening tools assessed in this article provide support for primary care professionals. Timely identification of mild cognitive impairment and dementia is crucial for the prognosis of these patients.

Cementum protein 1 transfection does not lead to ultrastructural changes in nucleolar organization of human gingival fibroblasts.

BACKGROUND AND OBJECTIVE: Transfection of cementum protein 1 (CEMP1) into human gingival fibroblasts (HGFs) notably increases cell metabolism and results in overexpression of molecules related to biomineralization at transcriptional and protein levels. Therefore, HGF-CEMP1 cells are considered as putative cementoblasts. This represents a significant advance in periodontal research because cementum neoformation is a key event in periodontal regeneration. In addition, it is well known that important changes in cell metabolism and protein expression are related to nucleolar structure and the function of this organelle, which is implicated in ribosome biogenesis. The aim of this study was to determine the effect of transfecting CEMP1 gene in human HGF on the ultrastructure of the nucleolus. MATERIAL AND METHODS: Cells were processed using the conventional technique for transmission electron microscopy, fixed with glutaraldehyde, postfixed with osmium tetraoxide, and embedded in epoxy resin. Semi-thin sections were stained with Toluidine blue and observed by light microscopy. Thin sections were stained with uranyl acetate and lead citrate. For ribonucleoprotein detection, the staining method based on the regressive effect of EDTA was used. In addition, the osmium ammine technique was used for specific staining of DNA. RESULTS: The results obtained in this study suggest that transfection of CEMP1 into HGFs does not produce changes in the general nucleolar ultrastructure because the different components of the organelle are present as fibrillary centers, and dense fibrillar and granular components compared with the control. CONCLUSION: The transfection of CEMP1 into HGFs allows these cells to perform cementoblast-like functions without alteration of the ultrastructure of the nucleolus, evaluated by the presence of the different compartments of this organelle involved in ribosomal biogenesis.

[Control of cross-contamination in dental prostheses laboratories in Galicia]. / Control de la infección cruzada en los laboratorios de prótesis dental de Galicia.

BACKGROUND: Dental laboratories are a potential source of cross-contamination. This study aims to assess its control in Galicia. METHODS: Voluntary random telephone interviews resulted in 149 completed questionnaires. The variables are described by percentages or means and standard deviations. A bivariate analysis was undertaken using the Chi square test. RESULTS: Participants were mostly middle-age (mean=45.7, SD=9.8) males (68.5%) with 20.8 (SD=10.5) years of professional experience in middle-size urban (58.4%) laboratories, who identified a higher risk when receiving items from the clinic (80.6%). Most technicians (57.7%) have a written protocol. Many (55.0%), significantly older males, do not check for item disinfection. Most technicians use gloves (62.4%) particularly younger staff at larger laboratories. Fifty-five point seven percent had been vaccinated against hepatitis B. Only 22.0% of technicians reported receiving training in cross-contamination control. CONCLUSIONS: Identified cross-infection control practices are below standards, and lack of training and protocols are a matter for concern.

[Sexual behaviour and human immunodeficiency virus testing in university students from Cuzco (Peru)]. / Conducta sexual y realización de la prueba del virus de la inmunodeficiencia humana en jóvenes que estudian en la universidad en Cuzco (Perú).

OBJECTIVE: To analyse sexual behaviour, HIV testing, HIV testing intentions and reasons for not testing for HIV in university students from Cuzco (Peru). METHODS: The sample comprised 1,377 university students from several institutions from Cuzco (Peru). The size of the sample was set according to a maximum 3% error estimation and a 97% confidence interval. Ages ranged from 16 to 30 years old. The data were collected through a self-administered, anonymous and voluntary questionnaire regarding sexual behaviour and HIV testing. The data were collected in classrooms during teaching hours. RESULTS: A higher percentage of males than females reported having had vaginal, anal and oral sex, a higher number of sexual partners and an earlier age at first vaginal and oral sex. A higher percentage of females than males did not use condoms when they first had anal sex and had a higher anal sex-risk index. Most of the participants had never been HIV tested. The main reason was that they were sure that they were not HIV infected. CONCLUSIONS: It seems that there was a low HIV risk perception in these participants despite the fact that they had been involved in sexual risk behaviours. Prevention campaigns focused on the general population as well as the at-risk populations and young people are needed.

Nuclear transport of the human aryl hydrocarbon receptor and subsequent gene induction relies on its residue histidine 291.

The aryl hydrocarbon receptor (AHR) is a ligand-dependent transcription factor involved in the metabolism of physiological substances and xenobiotics, representing an interesting target in both toxicology and pharmacology. In this study, we investigated the ligand-dependent conjunction of nuclear import of the human AHR in living cells and target gene induction. Our findings strengthen the theory that the AHR triggers a precisely defined and rapid reaction upon binding to endogenous ligands, while the xenobiotic ß-naphthoflavone only induces rather unspecific and slow effects. To better illuminate the ligand-mediated responses of the human AHR, we applied site-directed mutagenesis and identified histidine 291 as key residue for AHR functionality, essential for both nuclear import and target gene induction. Contrary, replacing histidine at position 291 by alanine did not affect nucleo-cytoplasmic shuttling, showing that permanent endogenous import and ligand-induced import of the AHR into the nucleus are two independent and differently regulated processes. Combining these observations with our structural investigations using a homology model of the AHR-PAS B domain, we suggest a dual role of histidine 291: (1) a major role for shaping the ligand binding site including direct interactions with ligands and, (2) an essential role for the conformational dynamics of a PAS B loop, which most likely influences the association of the AHR with the AHR nuclear translocator through interference with their protein-protein interface.

Diagnosis of gynecological pseudoaneurysms and embolization with cyanoacrylate. / Diagnóstico y embolización con cianoacrilato de pseudoaneurismas de origen ginecológico.

Pseudoaneurysms of the uterine artery are an uncommon cause of severe gynecological bleeding secondary to surgical manipulation of the pelvis or to instrumental delivery. The different imaging techniques are of vital importance in the diagnosis. Angiography is the technique used for confirmation and also for treatment in many cases. Endovascular treatment by embolizing the pseudoaneurysm has become established as the treatment of choice, making it possible to avoid hysterectomy in women of childbearing age. This article presents two cases of gynecological bleeding due to pseudoaneurysms (one secondary to surgery and one secondary to childbirth) that were embolized in a novel way using cyanoacrylate.