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ABSTRACT High molecular weight (HMW; >1 kDa) carbohydrates are a major component of dissolved organic matter (DOM) released by benthic primary producers. Despite shifts from coral to algae dominance on many reefs, little is known about the effects of exuded carbohydrates on bacterioplankton communities in reef waters. We compared the monosaccharide composition of HMW carbohydrates exuded by hard corals and brown macroalgae and investigated the response of the bacterioplankton community of an algae-dominated Caribbean reef to the respective HMW fractions. HMW coral exudates were compositionally distinct from the ambient, algae-dominated reef waters and similar to coral mucus (high in arabinose). They further selected for opportunistic bacterioplankton taxa commonly associated with coral stress (i.e., Rhodobacteraceae, Phycisphaeraceae, Vibrionaceae, and Flavobacteriales) and significantly increased the predicted energy-, amino acid-, and carbohydrate-metabolism by 28%, 44%, and 111%, respectively. In contrast, HMW carbohydrates exuded by algae were similar to those in algae tissue extracts and reef water (high in fucose) and did not significantly alter the composition and predicted metabolism of the bacterioplankton community. These results confirm earlier findings of coral exudates supporting efficient trophic transfer, while algae exudates may have stimulated microbial respiration instead of biomass production, thereby supporting the microbialization of reefs. In contrast to previous studies, HMW coral and not algal exudates selected for opportunistic microbes, suggesting that a shift in the prevalent DOM composition and not the exudate type (i.e., coral vs algae) per se, may induce the rise of opportunistic microbial taxa.IMPORTANCEDissolved organic matter (DOM) released by benthic primary producers fuels coral reef food webs. Anthropogenic stressors cause shifts from coral to algae dominance on many reefs, and resulting alterations in the DOM pool can promote opportunistic microbes and potential coral pathogens in reef water. To better understand these DOM-induced effects on bacterioplankton communities, we compared the carbohydrate composition of coral- and macroalgae-DOM and analyzed the response of bacterioplankton from an algae-dominated reef to these DOM types. In line with the proposed microbialization of reefs, coral-DOM was efficiently utilized, promoting energy transfer to higher trophic levels, whereas macroalgae-DOM likely stimulated microbial respiration over biomass production. Contrary to earlier findings, coral- and not algal-DOM selected for opportunistic microbial taxa, indicating that a change in the prevalent DOM composition, and not DOM type, may promote the rise of opportunistic microbes. Presented results may also apply to other coastal marine ecosystems undergoing benthic community shifts.

BackgroundHorses with trigeminal-mediated headshaking (TMHS) exhibit different headshaking patterns (HSPs), electric shock-like jerking, signs of nasal irritation, and painful facial expressions. The History Rest and Exercise Score (HRE-S) was developed to objectively clarify the severity of the condition in affected horses. This score considers the history and severity of clinical signs at rest and exercise. This study aimed to assess the frequency of different clinical signs and their individual associations with diagnosis, treatment, and outcome in horses diagnosed with TMHS.The clinical records of horses presented with headshaking (HS) at the Clinic for Horses, University of Veterinary Medicine Hannover, between 2006 and 2021 were assessed retrospectively for clinical signs, diagnosis, and treatment. A total of 140 horses were included in the study. Video recordings were evaluated using the HRE-S and compared to the score described by Talbot. Following discharge, owners were interviewed via telephone about the outcome. Correlations between the presence and severity of clinical signs, diagnosis, and outcome were evaluated.ResultsThe following clinical signs were significantly correlated with a higher HRE-S and grade by Talbot: HS at walk (independently of HSP) (52.9%, 74/140), increased total number of demonstrated HSP (independent of the dominant HSP) (more than one HSP per horse in 91.4%, 128/140), signs of nasal irritation (75.9%, 104/137), painful facial expression (67.8%, 80/118), and electric shock-like jerking (77.5%, 107/138). Diagnosis and outcome do not correlate with the presence of the above-mentioned clinical signs.ConclusionThe HRE-S was confirmed as a valid tool to evaluate disease severity in a cohort of 140 horses with HS. Additionally, clinical signs identified as indicators for higher disease severity may have a stronger negative effect on patient welfare, but they do not correlate with diagnosis or outcome.

Purpose: Acute heart failure (AHF) is associated with high morbidity and mortality, and the prognosis is particularly poor in older patients. Although the application of guideline-directed medical therapy (GDMT) has shown a positive impact on prognosis, the effects are less clear in older age groups. The aim of this study was to analyze real-world data regarding GDMT and outcomes in older HF patients. Methods: This is a prospective cohort study from a secondary care hospital in central Switzerland. A total of 97 consecutive patients aged ≥60 years were enrolled between January 2019 and 2022. The main outcome parameters were prescribed GDMT at discharge, and in case of rehospitalization, GDMT at readmission, and survival in terms of all-cause mortality and HF-related hospitalizations during a 3-year follow-up period. Results: Follow-up data were available for 93/97 patients. The mean age was 77.8 ± 9.8 years, 46% being female. The mean left ventricular ejection fraction (LVEF) was 35.3 ± 13.9%, with a mean BNP level of 2204.3 ± 239 ng/L. Upon discharge, 86% received beta-blockers and 76.3% received renin–angiotensin system (RAS) inhibitors. At rehospitalization for AHF, beta-blockers use was significantly lower and decreased to 52.8% (p = 0.003), whereas RAS inhibitor use increased slightly to 88.9% (p = 0.07), and SGLT-2 inhibitors showed a significant increase from 5.4% vs. 47.2% (p = 0.04). GDMT prescription was not dependent on LVEF. Overall, 73.1% of patients received two-stage or three-stage GDMT at discharge, whereas this percentage decreased to 61% at rehospitalization (p = 0.01). Kaplan–Meier analysis for the combined outcome rehospitalization and death stratified by LV function showed significant differences between LVEF groups (aHR: 0.6 [95% CI: 0.44 to 0.8]; p = 0.0023). Conclusions: Our results indicate that first, the majority of older AHF patients from a secondary care hospital in Switzerland were not on optimal GDMT at discharge and even fewer at readmission, and second, that prognosis of the population is still poor, with almost half of the patients having been rehospitalized or died during a 3-year follow-up period under real-world conditions, without significant difference between women and men. Our findings underline the need for further improvements in the medical treatment of AHF, in particular in older patients, to improve prognosis and to reduce the burden of disease.

Background: Few case reports describe equine coxofemoral joint osteoarthritis (CFJOA). Objectives: To evaluate diagnostic findings and outcome of horses with CFJOA and to provide a score facilitating radiographic assessment. Study design: Retrospective case series. Methods: History, clinical signs, ultrasonographic, radiographic and intra‐articular anaesthesia findings, treatments, outcome, and necropsy results of horses with CFJOA presented between 2002 and 2023 were collated. Radiographic findings were categorised to develop a radiographic score which was applied by two masked examiners. Intra‐ and inter‐observer reliability was determined using weighted Cohen's kappa (Cκ) and the correlation between radiographic and ultrasound findings via Spearman correlation coefficient. Results: The study included 24 horses (median age 14 years). Most of them (20/24) were chronically lame. Frequent clinical signs included unilateral gluteal muscle atrophy (18/21), lengthening of the stride of the affected limb (13/19) and locomotion on three tracks (13/20). Both imaging modalities enabled evaluation of periarticular osteophytes (correlation coefficient r = 0.64; p = 0.003). Additionally, radiography allowed detection of irregular joint spaces, subchondral bone opacity changes and femoral head flattening/tapering. Inter‐observer (Cκ = 0.846) and intra‐observer (Cκ = 0.853 and Cκ = 0.842) agreement was excellent. If treated, mostly intra‐articular corticosteroids were administered (16/18). Nine horses were euthanised immediately or during follow‐up examination. Post‐mortem, the Ligamentum capitis ossis femoris was commonly found ruptured. All surviving horses remained lame. Main limitations: Retrospective analysis of clinical records and subjective outcome assessment based on owner follow‐up with potential recall bias. Due to overall disease severity, associations between different grades of clinical findings, radiographic abnormalities and outcome could not be evaluated. Conclusions: Typical clinical signs may indicate CFJOA. Standardised evaluation of ventrodorsal radiographs allows a comprehensive diagnosis. Postmortem findings suggest joint instability as a possible causative factor that may contribute to the poor prognosis and resistance to medical therapy of the disorder. [ABSTRACT FROM AUTHOR]

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Abstract Background Bovine frontonasal dysplasias like arhinencephaly, synophthalmia, cyclopia and anophthalmia are sporadic congenital facial malformations. In this study, computed tomography, necropsy, histopathological examinations and whole genome sequencing on an Illumina NextSeq500 were performed to characterize a stillborn Limousin calf with frontonasal dysplasia. In order to identify private genetic and structural variants, we screened whole genome sequencing data of the affected calf and unaffected relatives including parents, a maternal and paternal halfsibling. Results The stillborn calf exhibited severe craniofacial malformations. Nose and maxilla were absent, mandibles were upwardly curved and a median cleft palate was evident. Eyes, optic nerve and orbital cavities were not developed and the rudimentary orbita showed hypotelorism. A defect centrally in the front skull covered with a membrane extended into the intracranial cavity. Aprosencephaly affected telencephalic and diencephalic structures and cerebellum. In addition, a shortened tail was seen. Filtering whole genome sequencing data revealed a private frameshift variant within the candidate gene ZIC2 in the affected calf. This variant was heterozygous mutant in this case and homozygous wild type in parents, half-siblings and controls. Conclusions We found a novel ZIC2 frameshift mutation in an aprosencephalic Limousin calf. The origin of this variant is most likely due to a de novo mutation in the germline of one parent or during very early embryonic development. To the authors’ best knowledge, this is the first identified mutation in cattle associated with bovine frontonasal dysplasia.

Most horses affected by headshaking (HS) are diagnosed with idiopathic trigeminal-mediated headshaking (i-TMHS) when no underlying disease is found. Diagnosis is made by the exclusion of differentials considering history, clinical signs, and diagnostic investigations. Therefore, in horses presented with headshaking, many diagnostic procedures and therapies are conducted. Retrospectively, the digital patient records of 240 horses with HS were analysed regarding the impact of diagnostic procedures on diagnosis, therapy, and outcome. Horses were extensively examined using a standardised protocol including clinical (ophthalmologic, orthopaedic, neurologic, dental) examination, blood analysis, and imaging techniques (endoscopy, radiographs, computed tomography (CT), and magnetic resonance imaging). Many findings were revealed but were of clinical relevance in only 6% of the horses. These horses were, therefore, diagnosed with secondary headshaking (s-HS). In addition, all of these horses demonstrated a positive outcome. The CT of the head revealed 9/10 of the clinically relevant findings. Other diagnostic procedures had no major additional impact. Conclusively, the diagnostic investigation of horses with HS should aim at differentiating i-TMHS from s-HS. The clinical relevance of findings should be verified through diagnostic anaesthesia or targeted therapy depending on risks, invasiveness, and expected benefits. To reduce the multitude of examinations, diagnostic investigations should focus on the CT of the head in those horses with suspicion of i-TMHS based on typical history, clinical signs, and physical examination.

This study examines the clinical features and risk factors associated with early mortality in patients with cartilage-hair hypoplasia (CHH), a rare genetic disorder. The study compares data from three international registries and finds that uncontrolled Epstein-Barr virus (EBV) infection is the only factor significantly correlated with early mortality. The study also notes that allogeneic hematopoietic stem cell transplantation (HSCT) was more common in the USIDNET registry, and that the median age at latest follow-up was shortest in the USIDNET cohort. The study concludes that screening for EBV infection and early management of uncontrolled EBV proliferation should be considered in CHH patients. [Extracted from the article]

Purpose: Acute heart failure (AHF) is associated with high morbidity and mortality, and the prognosis is particularly poor in older patients. Although the application of guideline-directed medical therapy (GDMT) has shown a positive impact on prognosis, the effects are less clear in older age groups. The aim of this study was to analyze real-world data regarding GDMT and outcomes in older HF patients. Methods: This is a prospective cohort study from a secondary care hospital in central Switzerland. A total of 97 consecutive patients aged ≥60 years were enrolled between January 2019 and 2022. The main outcome parameters were prescribed GDMT at discharge, and in case of rehospitalization, GDMT at readmission, and survival in terms of all-cause mortality and HF-related hospitalizations during a 3-year follow-up period. Results: Follow-up data were available for 93/97 patients. The mean age was 77.8 ± 9.8 years, 46% being female. The mean left ventricular ejection fraction (LVEF) was 35.3 ± 13.9%, with a mean BNP level of 2204.3 ± 239 ng/L. Upon discharge, 86% received beta-blockers and 76.3% received renin–angiotensin system (RAS) inhibitors. At rehospitalization for AHF, beta-blockers use was significantly lower and decreased to 52.8% (p = 0.003), whereas RAS inhibitor use increased slightly to 88.9% (p = 0.07), and SGLT-2 inhibitors showed a significant increase from 5.4% vs. 47.2% (p = 0.04). GDMT prescription was not dependent on LVEF. Overall, 73.1% of patients received two-stage or three-stage GDMT at discharge, whereas this percentage decreased to 61% at rehospitalization (p = 0.01). Kaplan–Meier analysis for the combined outcome rehospitalization and death stratified by LV function showed significant differences between LVEF groups (aHR: 0.6 [95% CI: 0.44 to 0.8]; p = 0.0023). Conclusions: Our results indicate that first, the majority of older AHF patients from a secondary care hospital in Switzerland were not on optimal GDMT at discharge and even fewer at readmission, and second, that prognosis of the population is still poor, with almost half of the patients having been rehospitalized or died during a 3-year follow-up period under real-world conditions, without significant difference between women and men. Our findings underline the need for further improvements in the medical treatment of AHF, in particular in older patients, to improve prognosis and to reduce the burden of disease. [ABSTRACT FROM AUTHOR]

Abstract Background The use of cadavers for radiology research methodologies involving subjective image quality evaluation of anatomical criteria is well-documented. The purpose of this method comparison study was to evaluate the image quality of dental and adjacent structures in computed tomography (CT) and high-field (3 T) magnetic resonance (MR) images in cadaveric heads, based on an objective four-point rating scale. Whilst CT is a well-established technique, MR imaging (MRI) is rarely used for equine dental diagnostics. The use of a grading system in this study allowed an objective assessment of CT and MRI advantages in portraying equine cheek teeth. As imaging is commonly performed with cadaveric or frozen and thawed heads for dental research investigations, the second objective was to quantify the impact of the specimens’ conditions (in vivo, post-mortem, frozen-thawed) on the image quality in CT and MRI. Results The CT and MR images of nine horses, focused on the maxillary premolar 08s and molar 09s, were acquired post-mortem (Group A). Three observers scored the dental and adjacent tissues. Results showed that MR sequences gave an excellent depiction of endo- and periodontal structures, whereas CT produced high-quality images of the hard tooth and bony tissues. Additional CT and MRI was performed in vivo (Group B) and frozen-thawed (Group C) in three of these nine horses to specify the condition of the best specimens for further research. Assessing the impact of the specimens’ conditions on image quality, specific soft tissues of the maxillary 08s and 09s including adjacent structures (pulps, mucosa of the maxillary sinuses, periodontal ligament, soft tissue inside the infraorbital canal) were graded in group B and C and analysed for significant differences within CT and MR modalities in comparison to group A. Results showed that MRI scores in vivo were superior to the post-mortem and frozen-thawed condition. Conclusions On comparing the imaging performance of CT and MRI, both techniques show a huge potential for application in equine dentistry. Further studies are needed to assess the clinical suitability of MRI. For further research investigations it must be considered, that the best MR image quality is provided in live horses.

A fast growing, circumscribed, unilateral swelling of the right mandible of a juvenile horse was observed. Within few weeks, the continuously growing mass reached dimensions ranging from 7 to 10 cm in diameter and resulted in loss of the first deciduous premolar of the affected side. The animal was euthanized due to lesion progression. Histologically the mandibular swelling consisted of numerous variably sized vascular structures, partly filled with erythrocytes and embedded in a loosely arranged fibrous stroma within the medullary cavity of the mandible. Juvenile mandibular angiomatosis was diagnosed. To the authors' knowledge this is the first description of this rare entity in the mandible of a foal.

Abstract Background Congenital skeletal malformations represent a heterogeneous group of disorders affecting bone and cartilage development. In cattle, particular chondrodysplastic forms have been identified in several miniature breeds. In this study, a phenotypic characterization was performed of an affected Miniature Zebu calf using computed tomography, necropsy and histopathological examinations, whole genome sequencing of the case and its parents on an Illumina NextSeq 500 in 2 × 150 bp paired-end mode and validation using Sanger sequencing and a Kompetitive Allele Specific PCR assay. Samples from the family of an affected Miniature Zebu with bulldog syndrome including parents and siblings, 42 healthy Miniature Zebu not related with members of the herd and 88 individuals from eight different taurine cattle breeds were available for validation. Results A bulldog-like Miniature Zebu calf showing a large bulging head, a short and compressed body and extremely short and stocky limbs was delivered after a fetotomy. Computed tomography and necropsy revealed severe craniofacial abnormalities including a shortening of the ventral nasal conchae, a cleft hard palate, rotated limbs as well as malformed and fused vertebrae and ribs. Histopathologic examination showed a disorganization of the physeal cartilage with disorderly arranged chondrocytes in columns and a multifocal closed epiphyseal plate. Whole-genome sequencing of this malformed Miniature Zebu calf, its dam and sire and subsequent comparative sequence analysis revealed a one base pair insertion (ACAN:c.5686insC) located within the cartilage development gene aggrecan (ACAN) exclusively homozygous in the affected calf and heterozygous in its parents. This variant was predicted to cause a frameshift (p.Val1898fsTer9) and thus a truncation of the chondroitin sulfate domain as well as a loss of the C-terminal globular domain of ACAN. It perfectly co-segregated with the lethal bulldog syndrome in Miniature Zebus. Conclusions We found a novel mutation in ACAN causing a recessive lethal chondrodysplasia in Miniature Zebu cattle. A diagnostic test for this mutation is now available for Miniature Zebu breeders preventing further cases of bulldog syndrome by targeted matings. To the authors’ best knowledge, this is the first case of a Miniature Zebu associated with an ACAN mutation.

Background: Much evidence-based physical activity (PA) interventions have been tested and implemented in urban contexts. However, studies that adapt, implement, and evaluate the effectiveness of these interventions in micropolitan rural contexts are needed. The study aimed to evaluate the effectiveness of the Active Ottumwa intervention to promote PA in a micropolitan community. Methods: Between 2013 – 2019, we implemented Active Ottumwa in a micropolitan setting, and subsequently implemented and evaluated its effectiveness using a Hybrid Type I design. In this paper, we describe the intervention's effectiveness in promoting PA. We collected PA data over 24 months from a cohort of community residents using accelerometers and PA data from two cross-sectional community surveys administered in 2013 and 2018, using the Global Physical Activity Questionnaire. Results: From the cohort, we found significant change in PA over 24 months (P = 0.03) corresponding to a 45-min daily decrease in sedentary activity, a daily increase of 35-min in light PA and 9 min in moderate-to-vigorous PA. There was a statistically significant (P = 0.01) increasing trend at the population-level in the moderate-to-vigorous composition of 7 min between the two cross-sectional assessments (95% CI: 0.1%—1.34%). Conclusions: The study demonstrates that the adapted evidence-based PA interventions in a micropolitan context is effective. [ABSTRACT FROM AUTHOR]

Background: Horses with trigeminal-mediated headshaking (TMHS) exhibit different headshaking patterns (HSPs), electric shock-like jerking, signs of nasal irritation, and painful facial expressions. The History Rest and Exercise Score (HRE-S) was developed to objectively clarify the severity of the condition in affected horses. This score considers the history and severity of clinical signs at rest and exercise. This study aimed to assess the frequency of different clinical signs and their individual associations with diagnosis, treatment, and outcome in horses diagnosed with TMHS. The clinical records of horses presented with headshaking (HS) at the Clinic for Horses, University of Veterinary Medicine Hannover, between 2006 and 2021 were assessed retrospectively for clinical signs, diagnosis, and treatment. A total of 140 horses were included in the study. Video recordings were evaluated using the HRE-S and compared to the score described by Talbot. Following discharge, owners were interviewed via telephone about the outcome. Correlations between the presence and severity of clinical signs, diagnosis, and outcome were evaluated. Results: The following clinical signs were significantly correlated with a higher HRE-S and grade by Talbot: HS at walk (independently of HSP) (52.9%, 74/140), increased total number of demonstrated HSP (independent of the dominant HSP) (more than one HSP per horse in 91.4%, 128/140), signs of nasal irritation (75.9%, 104/137), painful facial expression (67.8%, 80/118), and electric shocklike jerking (77.5%, 107/138). Diagnosis and outcome do not correlate with the presence of the above-mentioned clinical signs. Conclusion: The HRE-S was confirmed as a valid tool to evaluate disease severity in a cohort of 140 horses with HS. Additionally, clinical signs identified as indicators for higher disease severity may have a stronger negative effect on patient welfare, but they do not correlate with diagnosis or outcome. [ABSTRACT FROM AUTHOR]

Fucoidans are algal polysaccharides that exhibit protective properties against oxidative stress. The aim of this study was to investigate different fucoidans from brown seaweeds for their ability to protect against iron-dependent oxidative stress (ferroptosis), a main hallmark of retinal and brain diseases, including hemorrhage. We investigated five new high-molecular weight fucoidan extracts from Fucus vesiculosus, F. serratus, and F. distichus subsp. evanescens, a previously published Laminaria hyperborean extract, and commercially available extracts from F. vesiculosus and Undaria pinnatifida. We induced oxidative stress by glutathione depletion (erastin) and H2O2 in four retinal and neuronal cell lines as well as primary cortical neurons. Only extracts from F. serratus, F. distichus subsp. evanescens, and Laminaria hyperborea were partially protective against erastin-induced cell death in ARPE-19 and OMM-1 cells, while none of the extracts showed beneficial effects in neuronal cells. Protective fucoidans also attenuated the decrease in protein levels of the antioxidant enzyme GPX4, a key regulator of ferroptosis. This comprehensive analysis demonstrates that the antioxidant abilities of fucoidans may be cell type-specific, besides depending on the algal species and extraction method. Future studies are needed to further characterize the health-benefiting effects of fucoidans and to determine the exact mechanism underlying their antioxidative abilities.

Abstract Background The bulldog calf syndrome is a lethal form of the inherited congenital chondrodysplasias. Among the progeny of the polled Holstein bull Energy P cases of lethal chondrodysplasia were observed. Pedigrees of the cases and the frequency of 3/8 cases among the offspring of Energy P at our teaching and experimental farm Ruthe (LuFG Ruthe) supported the assumption of a germline mutation with a mosaic of normal and defective sperm. Results All three malformed calves were examined using necropsy, histopathology and computed tomography scanning. The phenotypic appearance of the affected calves was highly similar; they presented with severe disproportionate dwarfism and reduced body weight. The syndrome was characterized by brachygnathia superior, bilateral palatoschisis, shortening and compression of the body due to malformed vertebrae, in their size reduced and malformed ribs and reduced length of the long bones of the limbs. The bones had small irregular diaphyses and enlarged epiphyses. Whole genome sequencing of one bulldog calf, sperm of its sire Energy P and a normal progeny of Energy P identified a deleterious missense mutation (g.32476082G > A, c.2986G > A, ss2019324576) within COL2A1 on bovine chromosome (BTA) 5. Sanger sequencing confirmed the ss2019324576 variant in the affected calves and sperm of Energy P. This mutation is located within the collagen triple helix repeat and causes an exchange of glycine to serine (p.996G > S) in COL2A1. This private single nucleotide variant (SNV) was present as a gonadal mosaic in sperm of the bull. All affected calves were in a heterozygous state whereas normal half-siblings and all dams of the progeny from Energy P were missing this SNV. Validation in polled Holstein bulls and normal Holstein calves randomly sampled from several herds and from the LuFG Ruthe confirmed this SNV as private. Conclusions The identified spontaneous missense mutation within COL2A1 is most likely the cause of lethal chondrodysplasia in the progeny of Energy P through a dominant negative effect. This example suggests that it would be beneficial to conduct whole genome sequencing of sperm from bulls widely used in artificial insemination in order to detect germline mosaicism.

Abstract Background Modern imaging techniques such as computed tomography (CT) and magnetic resonance imaging (MRI) have the advantage of producing images without superimposition. Whilst CT is a well-established technique for dental diagnostics, MRI examinations are rarely used for the evaluation of dental diseases in horses. Regarding equine endodontic therapies which are increasingly implemented, MRI could help to portray changes of the periodontal ligament and display gross pulpar anatomy. Knowledge of age-related changes is essential for diagnosis, as cheek teeth and surrounding structures alter with increasing age. The aim of the present study was to highlight the advantages of CT and MRI regarding age-related changes in selected equine cheek teeth and their adjacent structures. Results The CT and MRI appearances of the maxillary 08 s and 09 s and adjacent structures were described by evaluation of post-mortem examinations of nine horses of different ages (Group A:

Abstract Background Adipose tissue is a promising source of mesenchymal stromal cells (MSCs) for the treatment of tendon disease. The goal of this study was to assess the effect of a single intralesional implantation of adipose tissue-derived mesenchymal stromal cells (AT-MSCs) on artificial lesions in equine superficial digital flexor tendons (SDFTs). Methods During this randomized, controlled, blinded experimental study, either autologous cultured AT-MSCs suspended in autologous inactivated serum (AT-MSC-serum) or autologous inactivated serum (serum) were injected intralesionally 2 weeks after surgical creation of centrally located SDFT lesions in both forelimbs of nine horses. Healing was assessed clinically and with ultrasound (standard B-mode and ultrasound tissue characterization) at regular intervals over 24 weeks. After euthanasia of the horses the SDFTs were examined histologically, biochemically and by means of biomechanical testing. Results AT-MSC implantation did not substantially influence clinical and ultrasonographic parameters. Histology, biochemical and biomechanical characteristics of the repair tissue did not differ significantly between treatment modalities after 24 weeks. Compared with macroscopically normal tendon tissue, the content of the mature collagen crosslink hydroxylysylpyridinoline did not differ after AT-MSC-serum treatment (p = 0.074) while it was significantly lower (p = 0.027) in lesions treated with serum alone. Stress at failure (p = 0.048) and the modulus of elasticity (p = 0.001) were significantly lower after AT-MSC-serum treatment than in normal tendon tissue. Conclusions The effect of a single intralesional injection of cultured AT-MSCs suspended in autologous inactivated serum was not superior to treatment of surgically created SDFT lesions with autologous inactivated serum alone in a surgical model of tendinopathy over an observation period of 22 weeks. AT-MSC treatment might have a positive influence on collagen crosslinking of remodelling scar tissue. Controlled long-term studies including naturally occurring tendinopathies are necessary to verify the effects of AT-MSCs on tendon disease.

Introduction: The German PID-NET registry was founded in 2009, serving as the first national registry of patients with primary immunodeficiencies (PID) in Germany. It is part of the European Society for Immunodeficiencies (ESID) registry. The primary purpose of the registry is to gather data on the epidemiology, diagnostic delay, diagnosis, and treatment of PIDs.Methods: Clinical and laboratory data was collected from 2,453 patients from 36 German PID centres in an online registry. Data was analysed with the software Stata® and Excel.Results: The minimum prevalence of PID in Germany is 2.72 per 100,000 inhabitants. Among patients aged 1–25, there was a clear predominance of males. The median age of living patients ranged between 7 and 40 years, depending on the respective PID. Predominantly antibody disorders were the most prevalent group with 57% of all 2,453 PID patients (including 728 CVID patients). A gene defect was identified in 36% of patients. Familial cases were observed in 21% of patients. The age of onset for presenting symptoms ranged from birth to late adulthood (range 0–88 years). Presenting symptoms comprised infections (74%) and immune dysregulation (22%). Ninety-three patients were diagnosed without prior clinical symptoms. Regarding the general and clinical diagnostic delay, no PID had undergone a slight decrease within the last decade. However, both, SCID and hyper IgE- syndrome showed a substantial improvement in shortening the time between onset of symptoms and genetic diagnosis. Regarding treatment, 49% of all patients received immunoglobulin G (IgG) substitution (70%—subcutaneous; 29%—intravenous; 1%—unknown). Three-hundred patients underwent at least one hematopoietic stem cell transplantation (HSCT). Five patients had gene therapy.Conclusion: The German PID-NET registry is a precious tool for physicians, researchers, the pharmaceutical industry, politicians, and ultimately the patients, for whom the outcomes will eventually lead to a more timely diagnosis and better treatment.

Mutations within the ectodysplasin A (EDA) gene have been associated with congenital hypotrichosis and anodontia (HAD/XHED) in humans, mice, dogs and cattle. We identified a three-generation family of Fleckvieh cattle with male calves exhibiting clinical and histopathological signs consistent with an X-linked recessive HAD (XHED). Whole genome and Sanger sequencing of cDNA showed a perfect association of the missense mutation g.85716041G>A (ss2019497443, rs1114816375) within the EDA gene with all three cases following an X-linked recessive inheritance, but normal EDAR and EDARADD. This mutation causes an exchange of glycine (G) with arginine (R) at amino acid position 227 (p.227G>R) in the second collagen triple helix repeat domain of EDA. The EDA variant was associated with a significant reduction and underdevelopment of hair follicles along with a reduced outgrowth of hairs, a complete loss of seromucous nasolabial and mucous tracheal and bronchial glands and a malformation of and reduction in number of teeth. Thermostability of EDA G227R was reduced, consistent with a relatively mild hair and tooth phenotype. However, incisors and canines were more severely affected in one of the calves, which correlated with the presence of a homozygous missense mutation of RNF111 (g.51306765T>G), a putative candidate gene possibly associated with tooth number in EDA-deficient Fleckvieh calves. [ABSTRACT FROM AUTHOR]