Insights into the Rheology of Rocks under Brittle-Ductile Deformation Conditions from an Exhumed Shear Array in the Southern Alps, New Zealand

A suite of brittle-ductile faults in the central Southern Alps, New Zealand is used as a natural laboratory into the rheology of quartz rocks. The fault array is ~2 km wide and formed in the hanging-wall of the SE-dipping Alpine Fault during the late Cenozoic at >= 25 km depth. It was exhumed in the past few Myr and is now exposed 5-7 km east of the Alpine Fault. The faults are near-vertical, extend laterally and vertically over tens of metres, and strike sub-parallel to the Alpine Fault. They displace quartzofeldspathic Alpine Schist (metagreywacke) in a predominantly brittle way. The faults impinge upon and displace abundant centimetre-thick quartz veins that are discordant to the dominant schist foliation. These quartz veins exhibit a full range of slip from fully brittle to fully ductile. In most quartz veins, a ductile component of slip and a 1-3 cm (n=72) wide ductile shear zone are present. The mean total slip measured in the veins is (7.2 +/- 5.8 ) cm (n=72). This study first develops a method to determine the true shape and displacement of a geological marker from any outcrop orientation. It then uses a set of geometrical scaling relationships exhibited by the ductilely-to-brittlely sheared quartz veins, and the observed interaction between brittle faults and ductilely deforming quartz veins to develop a series of finite-element models that reproduce the field observations. A flow law of the form de/dt = A*(f_H2O)^m*(sig_d)^n*exp(-Q/(R*T)) is used to model the behaviour of the quartz veins. Flow law parameters for the quartz veins and viscous and frictional strength ratios between quartz and schist are determined from these models. For Q = 135 kJ mol^-1, f_H2O= 200 MPa and m = 1.0, the results show that the scaling relationships in the quartz veins are successfully reproduced for A = 10^(-10 +/- 2) MPa^-n s^-1, and n = 4. The ratio between ductile-to-total slip (D) were measured for 72 veins throughout the brittle-ductile shear array and are highly variable. In order to understand what has led to this variability, we investigate the following parameters: original vein thickness, deformation temperature, water content, microfracturing, calcite fraction, and total slip. D-ratios appear to scale with original vein thickness, however, significant scattering of the D-values indicates that other factors also control D. The temperature resolution (from Titanium-in-Quartz geothermometry and oxygen isotopy) is not high enough to determine whether temperature influenced the D-values. Fourier Transform Infrared Spectroscopy (FTIR), and optical microscopy reveal that water content, microfracturing, and calcite fraction were very similar from one vein to another and therefore did not control the D-ratios either. Detailed outcrop maps of the brittle-ductile shears and displacement-length profiles along five individual faults indicate that the total slip varied rapidly and on short distances (cm- to m-scale) along the faults. We infer that these varying slip rates led to different flow strain rates in the deforming quartz veins and therefore can explain the variations in D-values. Optical microscopy reveals abundant fluid inclusions in both the deformed and undeformed parts of the veins. These inclusions indicate that the quartz was ‘wet’ and the veins were weakened with respect to the surrounding schist. We therefore infer that the location of the shear zones was predetermined by the position of the brittle faults propagating through the stronger schist and impinging on the weaker quartz veins

Brittle basement deformation during the Caledonian Orogeny observed by K‐Ar geochronology of illite‐bearing fault gouge in west‐central Sweden

This study presents K-Ar ages of illite from fault gouges in crystalline basement in centralwestern Sweden. Samples were taken from two faults that localized brittle deformation marginal to and within mafic dikes that intruded Paleoproterozoic granitoids. K-Ar ages from ten separated grain fractions span from 823 to 392 Ma. Older ages obtained (823 to 477 Ma) were influenced by a mixture of illite and K-feldspar; the latter likely formed during a hydrothermal event prior to faulting. The remaining ages (442.1±9.7 to 391.7±6.1 Ma) were obtained from fractions from both faults hosting only authigenic illite, and show that illite crystallized during the Scandian Caledonian orogeny. These results indicate that previously presumed autochthonous Caledonian basement was involved in continental contraction and subsequent collapse of the Caledonian orogen, influencing both the mode and depth of penetration of deformation into Baltica

Effect of electromagnetic fields on human osteoarthritic and non-osteoarthritic chondrocytes

Background: Studies of the effects of electromagnetic fields (EMFs) on cartilaginous cells show a broad range of outcomes. However EMFs are not yet clinically applied as standard treatment of osteoarthritis, as EMF effects are showing varying outcomes in the literature. The aim of this study was to examine effects of EMFs (5 mT or 8 mT) on osteoarthritic (OA) and non-OA chondrocytes in order to investigate whether EMF effects are related to chondrocyte and EMF quality. Methods: Pellets of human OA and non-OA chondrocytes were exposed to a sinusoidal 15 Hz EMF produced by a solenoid. Control groups were cultivated without EMF under standard conditions for 7 days. Cultures were examined by staining, immunohistochemistry and quantitative real-time PCR for RNA corresponding to cartilage specific proteins (COL2A1, ACAN, SOX9). Results: OA chondrocytes increased the expression of COL2A1 and ACAN under 5 mT EMF compared to control. In contrast no changes in gene expression were observed in non-OA chondrocytes. OA and non-OA chondrocytes showed no significant changes in gene expression under 8 mT EMF. Conclusion: A 5 mT EMF increased the expression of cartilage specific genes in OA chondrocytes whereas in non-OA chondrocytes no changes in gene expression were observed. An 8 mT EMF however showed no effect altogether. This suggests that EMF effects are related to EMF but also to chondrocyte quality. Further studies about the clinical relevance of this effect are necessary

Infants and newborns with Atypical Teratoid Rhabdoid Tumors (ATRT) and Extracranial Malignant Rhabdoid Tumors (eMRT) in the EU-RHAB registry: a unique and challenging population

SIMPLE SUMMARY: Malignant rhabdoid tumors (MRT) are deadly tumors that predominantly affect infants and young children. Even when considering the generally young age of these patients, the treatment of infants below the age of six months represents a particular challenge due to the vulnerability of this patient population. The aim of our retrospective study was to assess the available information on prognostic factors, genetics, toxicity of treatment and long-term outcomes of MRT. We confirmed that, in a cohort of homogenously treated infants with MRT, significant predictors of outcome were female sex, localized stage, absence of a GLM and maintenance therapy, and these significantly favorably influence prognosis. Stratification-based biomarker-driven tailored trials may be a key option to improve survival rates. ABSTRACT: Introduction: Malignant rhabdoid tumors (MRT) predominantly affect infants and young children. Patients below six months of age represent a particularly therapeutically challenging group. Toxicity to developing organ sites limits intensity of treatment. Information on prognostic factors, genetics, toxicity of treatment and long-term outcomes is sparse. Methods: Clinical, genetic, and treatment data of 100 patients (aged below 6 months at diagnosis) from 13 European countries were analyzed (2005–2020). Tumors and matching blood samples were examined for SMARCB1 mutations using FISH, MLPA and Sanger sequencing. DNA methylation subgroups (ATRT-TYR, ATRT-SHH, and ATRT-MYC) were determined using 450 k / 850 k-profiling. Results: A total of 45 patients presented with ATRT, 29 with extracranial, extrarenal (eMRT) and 9 with renal rhabdoid tumors (RTK). Seventeen patients demonstrated synchronous tumors (SYN). Metastases (M+) were present in 27% (26/97) at diagnosis. A germline mutation (GLM) was detected in 55% (47/86). DNA methylation subgrouping was available in 50% (31 / 62) with ATRT or SYN; for eMRT, methylation-based subgrouping was not performed. The 5-year overall (OS) and event free survival (EFS) rates were 23.5 ± 4.6% and 19 ± 4.1%, respectively. Male sex (11 ± 5% vs. 35.8 ± 7.4%), M+ stage (6.1 ± 5.4% vs. 36.2 ± 7.4%), presence of SYN (7.1 ± 6.9% vs. 26.6 ± 5.3%) and GLM (7.7 ± 4.2% vs. 45.7 ± 8.6%) were significant prognostic factors for 5-year OS. Molecular subgrouping and survival analyses confirm a previously described survival advantage for ATRT-TYR. In an adjusted multivariate model, clinical factors that favorably influence the prognosis were female sex, localized stage, absence of a GLM and maintenance therapy. Conclusions: In this cohort of homogenously treated infants with MRT, significant predictors of outcome were sex, M-stage, GLM and maintenance therapy. We confirm the need to stratify which patient groups benefit from multimodal treatment, and which need novel therapeutic strategies. Biomarker-driven tailored trials may be a key option

Infants and Newborns with Atypical Teratoid Rhabdoid Tumors (ATRT) and Extracranial Malignant Rhabdoid Tumors (eMRT) in the EU-RHAB Registry: A Unique and Challenging Population

Malignant rhabdoid tumors (MRT) predominantly affect infants and young children. Patients below six months of age represent a particularly therapeutically challenging group. Toxicity to developing organ sites limits intensity of treatment. Information on prognostic factors, genetics, toxicity of treatment and long-term outcomes is sparse. Methods: Clinical, genetic, and treatment data of 100 patients (aged below 6 months at diagnosis) from 13 European countries were analyzed (2005–2020). Tumors and matching blood samples were examined for SMARCB1 mutations using FISH, MLPA and Sanger sequencing. DNA methylation subgroups (ATRT-TYR, ATRT-SHH, and ATRT-MYC) were determined using 450 k / 850 k-profiling. Results: A total of 45 patients presented with ATRT, 29 with extracranial, extrarenal (eMRT) and 9 with renal rhabdoid tumors (RTK). Seventeen patients demonstrated synchronous tumors (SYN). Metastases (M+) were present in 27% (26/97) at diagnosis. A germline mutation (GLM) was detected in 55% (47/86). DNA methylation subgrouping was available in 50% (31 / 62) with ATRT or SYN; for eMRT, methylation-based subgrouping was not performed. The 5-year overall (OS) and event free survival (EFS) rates were 23.5 ± 4.6% and 19 ± 4.1%, respectively. Male sex (11 ± 5% vs. 35.8 ± 7.4%), M+ stage (6.1 ± 5.4% vs. 36.2 ± 7.4%), presence of SYN (7.1 ± 6.9% vs. 26.6 ± 5.3%) and GLM (7.7 ± 4.2% vs. 45.7 ± 8.6%) were significant prognostic factors for 5-year OS. Molecular subgrouping and survival analyses confirm a previously described survival advantage for ATRT-TYR. In an adjusted multivariate model, clinical factors that favorably influence the prognosis were female sex, localized stage, absence of a GLM and maintenance therapy. Conclusions: In this cohort of homogenously treated infants with MRT, significant predictors of outcome were sex, M-stage, GLM and maintenance therapy. We confirm the need to stratify which patient groups benefit from multimodal treatment, and which need novel therapeutic strategies. Biomarker-driven tailored trials may be a key option

Insights into the Rheology of Rocks under Brittle-Ductile Deformation Conditions from an Exhumed Shear Array in the Southern Alps, New Zealand

A suite of brittle-ductile faults in the central Southern Alps, New Zealand is used as a natural laboratory into the rheology of quartz rocks. The fault array is ~2 km wide and formed in the hanging-wall of the SE-dipping Alpine Fault during the late Cenozoic at >= 25 km depth. It was exhumed in the past few Myr and is now exposed 5-7 km east of the Alpine Fault. The faults are near-vertical, extend laterally and vertically over tens of metres, and strike sub-parallel to the Alpine Fault. They displace quartzofeldspathic Alpine Schist (metagreywacke) in a predominantly brittle way. The faults impinge upon and displace abundant centimetre-thick quartz veins that are discordant to the dominant schist foliation. These quartz veins exhibit a full range of slip from fully brittle to fully ductile. In most quartz veins, a ductile component of slip and a 1-3 cm (n=72) wide ductile shear zone are present. The mean total slip measured in the veins is (7.2 +/- 5.8 ) cm (n=72).  This study first develops a method to determine the true shape and displacement of a geological marker from any outcrop orientation. It then uses a set of geometrical scaling relationships exhibited by the ductilely-to-brittlely sheared quartz veins, and the observed interaction between brittle faults and ductilely deforming quartz veins to develop a series of finite-element models that reproduce the field observations. A flow law of the form de/dt = A*(f_H2O)^m*(sig_d)^n*exp(-Q/(R*T)) is used to model the behaviour of the quartz veins. Flow law parameters for the quartz veins and viscous and frictional strength ratios between quartz and schist are determined from these models. For Q = 135 kJ mol^-1, f_H2O= 200 MPa and m = 1.0, the results show that the scaling relationships in the quartz veins are successfully reproduced for A = 10^(-10 +/- 2) MPa^-n s^-1, and n = 4.  The ratio between ductile-to-total slip (D) were measured for 72 veins throughout the brittle-ductile shear array and are highly variable. In order to understand what has led to this variability, we investigate the following parameters: original vein thickness, deformation temperature, water content, microfracturing, calcite fraction, and total slip. D-ratios appear to scale with original vein thickness, however, significant scattering of the D-values indicates that other factors also control D. The temperature resolution (from Titanium-in-Quartz geothermometry and oxygen isotopy) is not high enough to determine whether temperature influenced the D-values. Fourier Transform Infrared Spectroscopy (FTIR), and optical microscopy reveal that water content, microfracturing, and calcite fraction were very similar from one vein to another and therefore did not control the D-ratios either. Detailed outcrop maps of the brittle-ductile shears and displacement-length profiles along five individual faults indicate that the total slip varied rapidly and on short distances (cm- to m-scale) along the faults. We infer that these varying slip rates led to different flow strain rates in the deforming quartz veins and therefore can explain the variations in D-values.  Optical microscopy reveals abundant fluid inclusions in both the deformed and undeformed parts of the veins. These inclusions indicate that the quartz was ‘wet’ and the veins were weakened with respect to the surrounding schist. We therefore infer that the location of the shear zones was predetermined by the position of the brittle faults propagating through the stronger schist and impinging on the weaker quartz veins.</p

Enkätstudie – insamling och lagring av bergtekniska och hydrogeologiska data

Insamling av bergtekniska och hydrogeologiska data sker kontinuerligt och i olika faser av bergbyggnadsprojekt. I nuläget är insamlingsprocesserna dock inte standardiserade och det finns inget centralt, nationellt system för att lagra insamlade data. Det är också svårt att värdera eller återanvända data från tidigare projekt och oftast måste all nödvändiga fältdata samlas in från noll inför nya infrastrukturprojekt, även i områden där det finns tidigare bergbyggnation. Arbete inför och under denna förstudie pekar på ett stort behov av dels en tydligare och delvis förbättrad metodik för insamling av data och dels önskemål om en nationell portal för åtkomst till arkiv och databaser, med information från tidigare bergbyggnadsprojekt i ett område.Med hjälp av två enkätstudier som skickades ut till olika aktörer i bergbyggbranschen har vi identifierat geologiska, bergtekniska och hydrogeologiska parametrar vars insamlingsmetodik och metodbeskrivningar är i behov av att förbättras och eventuellt standardiseras. Med hjälp av enkätsvaren har befintliga databaslösningar samt önskemål runt funktionaliteten av en framtida nationell databas också analyserats.Enkätstudien pekar också på att en standardisering av datainsamlingsprocessen är nödvändig för att säkerställa tillförlitligheten och spårbarheten av data, samt på att standardiserad metodik bör vara anpassad till projektkomplexitet och i möjligaste mån ansluta till nuvarande internationellt accepterad metodik. Studien visar dock även att bergbyggbranschens åsikter är mycket splittrade kring vissa frågor. Hur processen att driva utvecklingen och förvaltandet av metodik, metodbeskrivningar och dataportal/databas är inte heller självklart, eller hur detta ska finansieras och vilka förvaltande organ som ska ansvara. Det rekommenderas i denna förstudie att man vid en uppbyggnad av en nationell databas delar upp en sådan i ett sökbart dokumentarkiv och i en parameterdatabas. En eller flera statliga organisationer bör ha huvudansvaret för förvaltning. Föreliggande rapport är tänkt att tjäna som beslutsunderlag vid initiering och finansiering av projekt inom det aktuella området. Det rekommenderas starkt att den eller de organisationerna som ska bygga upp ett dokumentarkiv och en nationell parameterdatabas tar hänsyn till de funktionsönskemål som tas upp i rapporten.Notera att denna rapport med tillhörande elektroniska bilagor även finns tillgänglig i PDF-format på Stiftelsen Bergteknisk Forskning – BeFos hemsida . Länkarna i rapporten kan enkelt öppnas direkt från PDF-filen och bilder kan förstoras. http://www.befoonline.org/publikationer/r-204__1906Förstudie – Insamling och lagring av bergtekniska och hydrogeologiska dat

Common pre-diagnostic features in individuals with different rare diseases represent a key for diagnostic support with computerized pattern recognition?

Background Rare diseases (RD) result in a wide variety of clinical presentations, and this creates a significant diagnostic challenge for health care professionals. We hypothesized that there exist a set of consistent and shared phenomena among all individuals affected by (different) RD during the time before diagnosis is established. Objective We aimed to identify commonalities between different RD and developed a machine learning diagnostic support tool for RD. Methods 20 interviews with affected individuals with different RD, focusing on the time period before their diagnosis, were performed and qualitatively analyzed. Out of these pre-diagnostic experiences, we distilled key phenomena and created a questionnaire which was then distributed among individuals with the established diagnosis of i.) RD, ii.) other common nonrare diseases (NRO) iii.) common chronic diseases (CD), iv.), or psychosomatic/somatoform disorders (PSY). Finally, four combined single machine learning methods and a fusion algorithm were used to distinguish the different answer patterns of the questionnaires. Results The questionnaire contained 53 questions. A total sum of 1763 questionnaires (758 RD, 149 CD, 48 PSY, 200 NRO, 34 healthy individuals and 574 not evaluable questionnaires) were collected. Based on 3 independent data sets the 10-fold stratified cross-validation method for the answer-pattern recognition resulted in sensitivity values of 88.9% to detect the answer pattern of a RD, 86.6% for NRO, 87.7% for CD and 84.2% for PSY. Conclusion Despite the great diversity in presentation and pathogenesis of each RD, patients with RD share surprisingly similar pre-diagnosis experiences. Our questionnaire and data-mining based approach successfully detected unique patterns in groups of individuals affected by a broad range of different rare diseases. Therefore, these results indicate distinct patterns that may be used for diagnostic support in RD