Towards complete and error-free genome assemblies of all vertebrate species.

High-quality and complete reference genome assemblies are fundamental for the application of genomics to biology, disease, and biodiversity conservation. However, such assemblies are available for only a few non-microbial species1-4. To address this issue, the international Genome 10K (G10K) consortium5,6 has worked over a five-year period to evaluate and develop cost-effective methods for assembling highly accurate and nearly complete reference genomes. Here we present lessons learned from generating assemblies for 16 species that represent six major vertebrate lineages. We confirm that long-read sequencing technologies are essential for maximizing genome quality, and that unresolved complex repeats and haplotype heterozygosity are major sources of assembly error when not handled correctly. Our assemblies correct substantial errors, add missing sequence in some of the best historical reference genomes, and reveal biological discoveries. These include the identification of many false gene duplications, increases in gene sizes, chromosome rearrangements that are specific to lineages, a repeated independent chromosome breakpoint in bat genomes, and a canonical GC-rich pattern in protein-coding genes and their regulatory regions. Adopting these lessons, we have embarked on the Vertebrate Genomes Project (VGP), an international effort to generate high-quality, complete reference genomes for all of the roughly 70,000 extant vertebrate species and to help to enable a new era of discovery across the life sciences.

Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues.

BACKGROUND: The disease-causing mutation in Huntington disease (HD) is a CAG trinucleotide expansion in the huntingtin (HTT) gene. The mutated CAG tract results in the production of a small RNA, HTT1a, coding for only exon 1 of HTT. HTT1a is generated by a block in the splicing reaction of HTT exon 1 to exon 2 followed by cleavage in intron 1 and polyadenylation. Translation of HTT1a leads to the expression of the highly toxic HTT exon 1 protein fragment. We have previously shown that the levels of HTT1a expression in mouse models of HD is dependent on the CAG repeat length. However, these data are lacking for human tissues. METHODS: To answer this question, we developed highly sensitive digital PCR assays to determine HTT1a levels in human samples. These assays allow the absolute quantification of transcript numbers and thus also facilitate the comparison of HTT1a levels between tissues, cell types and across different studies. Furthermore, we measured CAG repeat sizes for every sample used in the study. Finally, we analysed our data with ANOVA and linear modelling to determine the correlation of HTT1a expression levels with CAG repeat sizes. RESULTS: In summary, we show that HTT1a is indeed expressed in a CAG repeat-length-dependent manner in human post mortem brain tissues as well as in several peripheral cell types. In particular, PBMCs show a statistically significant positive correlation of HTT1a expression with CAG repeat length, and elevated HTT1a expression levels even in the adult-onset CAG repeat range. CONCLUSIONS: Our results show that HTT1a expression occurs throughout a wide range of tissues and likely with all CAG lengths. Our data from peripheral sample sources demonstrate that HTT1a is indeed generated throughout the body in a CAG repeat-length-dependent manner. Therefore, the levels of HTT1a might be a sensitive marker of disease state and/or progression and should be monitored over time, especially in clinical trials targeting HTT expression.

First experience with Walrus balloon guide catheter in a whole-body flow model.

PURPOSE: Flow arrest using a balloon guide catheter (BGC) in mechanical thrombectomy (MT) due to large vessel occlusion has been associated with better outcomes. Known limitations of currently commercially available BGCs are incompatibility with large bore aspiration catheters (AC) and lack of distal flexibility. Walrus presents variable stiffness and compatibility with large bore AC. The goal of this study is to describe the first experience with Walrus in a realistic stroke simulation model. METHODS: A full-length modular vascular model under physiological conditions was used. 8F+-Walrus inner-diameter (ID) 0.087in 95 cm combined with 6F-Sofia AC ID 0.070in 131 cm and an 8F-Flowgate2 BGC ID 0.084in 95 cm with a 5F-Sofia AC ID 0.055in 125 cm were used to perform aspiration MT. User surveys, access to target and occlusion site, technique, time of delivery, anatomical change, and catheter kick-back were assessed. RESULTS: Seven neuroradiologists with average of 10 years-experience in MT performed primary aspiration using the above-mentioned combinations in three different anatomies (N = 41). All operators would likely (29%) or very likely (71%) use again Walrus in combination with large bore AC and the majority (86%) found its navigability easier than with other BGCs. Time to reach final BGC position and catheter kick-back did not differ significantly among anatomies or catheter combinations (p > 0.05). However, Walrus was more likely to reach ICA petrous segment (p < 0.05) and intracranial occlusion with AC (p < 0.01). CONCLUSION: The Walrus combined with large bore AC presented significantly better distal access and navigability for primary aspiration in an in vitro stroke model.

Surgical Outcomes of Orbital Fracture Reconstruction Using Patient-Specific Implants.

PURPOSE: Patient-specific implants (PSIs) are known to yield reliable outcomes in orbital wall fracture reconstruction (high precision, smoother operating techniques, and shorter surgical duration). This study analyzed the surgical error and clinical and esthetic outcomes of orbital reconstructions with PSIs. METHODS: This ambispective cohort study enrolled patients who underwent orbital reconstruction using PSIs between October 2016 and January 2018. The study end points were surgical error, indication and duration of surgery, long-term sequelae, revision surgeries, and surgical complications. Surgical error was analyzed by superimposing the postoperative implant position onto the preoperative virtual plan. Both qualitative (heat map) and quantitative (distance) measurements were obtained. RESULTS: Three patients were enrolled prospectively, and 23 were enrolled retrospectively. Indications for surgery were defect size (25 patients), diplopia (10 patients), impaired eye motility (4 patients), and significant enophthalmos (6 patients). At the last patient visit, there were 5 cases of diplopia, 1 case of exophthalmos, and 6 cases of slight enophthalmos of incremental degree. In terms of surgical error, a mean distance of 0.6 mm (95% confidence interval, 0.49 to 0.76), with a mean maximal distance of 3.4 mm (95% confidence interval, 2.79 to 4.02), was noted. No revision surgery was necessary. Lid malposition complications were not observed. However, 1 case each of symblepharon and scleral show were observed. No time-saving component was observed. CONCLUSIONS: PSI use in orbital reconstruction guarantees a preplanned 3-dimensional anatomical shape with a mean surgical error of just 0.6 mm. Our clinical results were similar to those of other protocols; however, warranting a complex 3-dimensional anatomical shape also in large orbital fractures with a low mean surgical error is feasible by using PSIs.

Volumetric Evaluated Bone Resorption After Open Reduction and Internal Fixation of Condylar Head Fractures of the Mandible.

PURPOSE: Decision making in the management of condylar head fractures remains difficult due to its dependency on multiple factors like fracture type, degree of dislocation, patient`s age and dental condition. As open reduction and internal fixation (ORIF) of condylar head fractures (CHFs) becomes more popular, the question of osteosynthesis removal is controversial. So far, information on volumetric changes after ORIF are available for a short-term period (<6 months) only. This study, therefore, was performed to assess bone resorption after condylar head fractures and to follow-up intermediate-term (>1 year) remodelling after removal of metallic osteosynthesis material. Furthermore clinical outcome was measured using Helkimo Index and put in relation with bone resorption. MATERIALS AND METHODS: A retrospective analysis of 19 patients who underwent open reduction and internal fixation of condylar head fractures at the University Hospital of Zürich between January 2016 and April 2018 using intraoperative cone-beam computed tomography repositioning control was conducted. The bone resorption on the condylar head was measured in the course after removal of osteosynthesis material by segmenting and superimposing of the postoperative 3D radiologic follow-up exam (T2) over the initial intraoperative cone-beam computed tomography (T1) using iPlan-CMF software. Complementary Helkimo index was assessed to put resorption rate in relation to clinical outcome. RESULTS: A total of 19 patients fulfilled the inclusion criteria. The mean follow-up time was 15.6 months and the mean bone resorption on the condylar head was -0.348cm3 or -15.29% of segmented condylar head. There was no correlation of clinical outcome and bone resorption. CONCLUSIONS: Helkimo index showed satisfying results; therefore, ORIF of condylar head fracture proves as a feasible treatment option. The mean bone resorption rate of -15.29% in the intermediate-term follow-up time (mean 15.6 months) is comparable to findings of other studies with short-term follow-up time (< 6 months). Thus, postinterventional remodeling activity and resorption seems highest in the first 4 to 6 postoperative months with little further resorption. In prevention of negative sequelae of protruding implants, timing of osteosynthesis material removal after this period of high bone remodeling activity is recommended. The resorption rate showed no correlation to clinical outcome.

Customized Titanium Reconstruction of Orbital Fractures Using a Mirroring Technique for Virtual Reconstruction and 3D Model Printing.

PURPOSE: Early operative reconstruction using titanium mesh is a technique often used for preventing sequelae after an orbital fracture. We sought to examine the utility of patient-specific molding of the mesh with a biomodel via virtual mirroring of the nonaffected side. METHODS: We retrospectively assessed the clinical and radiological outcomes of orbital fracture reconstruction using a customized titanium mesh shaped on 3D-printed biomodels in 34 unilateral orbital fracture cases. Preoperative virtual orbital reconstruction images, using the mirroring technique, were superimposed on postoperative 3D images, and clinical data from patient charts were analyzed. Orbital reconstructions were rated, and the intention to revise results intraoperatively, or during inpatient or outpatient phases, was assessed by 2 consultants and 2 residents. RESULTS: We found that most fractures arose from falls of <3 meters or from interpersonal violence. Ophthalmic injuries included subconjunctival bleeding, ocular contusion, enophthalmos, and diplopia. Long-term sequelae at last followup were diplopia (8.8%) and mild enophthalmos (11.8%). CONCLUSION: Interrater reliabilities regarding consultants' intention to revise results were substantial to almost perfect at any time point. Therefore, using the mirroring technique for the virtual reconstruction of a fractured orbit and a 3D-printed biomodel to customize commercial titanium implants yields good and reliable results, enhances surgical precision, and decreases the need for intraoperative revision, as well as long-term sequelae of orbital fractures.

First documentation of the otoliths of the species of Gouania (Teleostei: Gobiesocidae) in the Mediterranean Sea.

Otolith morphology is a widely accepted tool for species identification in teleost fish, but whether this holds true for very small species remains to be explored. Here, the saccular otoliths of the cryptobenthic Mediterranean clingfish Gouania (Gobiesocidae) are described for the first time. The new data, although preliminary, indicate that otolith morphology and morphometry support the recognition of the recently differentiated five species of Gouania in the Mediterranean Sea. Furthermore, otoliths of phylogenetically closely related Gouania species resemble each other more than do those of the more distantly related species.

Unravelling the taxonomy of an interstitial fish radiation: Three new species of Gouania (Teleostei: Gobiesocidae) from the Mediterranean Sea and redescriptions of G. willdenowi and G. pigra.

The clingfish (Gobiesocidae) genus Gouania Nardo, 1833 is endemic to the Mediterranean Sea and inhabits, unlike any other vertebrate species in Europe, the harsh intertidal environment of gravel beaches. Following up on a previous phylogenetic study, we revise the diversity and taxonomy of this genus by analysing a comprehensive set of morphological (meristics, morphometrics, microcomputed tomography imaging), geographical and genetic (DNA-barcoding) data. We provide descriptions of three new species, G. adriatica sp. nov., G. orientalis sp. nov. and G. hofrichteri sp. nov., as well as redescriptions of G. willdenowi (Risso, 1810) and G. pigra (Nardo, 1827) and assign neotypes for the latter two species. In addition to elucidating the complex taxonomic situation of Gouania, we discuss the potential of this enigmatic clingfish genus for further ecological, evolutionary and biodiversity studies that might unravel even more diversity in this unique Mediterranean fish radiation.

Radiologic Analysis of Surgically Treated Fractures of the Condylar Process by an Endoscopic-Assisted Transoral Approach.

PURPOSE: This study analyzed the radiologic outcomes of patients with unilateral mandibular condylar fractures treated with open reduction-internal fixation (ORIF) through a transoral approach. PATIENTS AND METHODS: In this retrospective study, the radiologic images of 40 patients who underwent open reduction-internal fixation through a transoral approach were presented to 2 independent examiners. All patients underwent the surgical procedure between January 2015 and December 2016 at the Department of Cranio-Maxillofacial Surgery at UniversitätsSpital Zürich and were included in a previous functional outcome study. The surgical results were analyzed and graded as poor, acceptable, or good. The examiners declared whether they would have made any intraoperative revisions if the radiologic information had been available. Finally, the examiners estimated the required duration of elastic intermaxillary fixation (IMF) from the radiologic images, which was compared with the actual duration. RESULTS: Fracture reduction was classified as good in 33 cases (82.5%), acceptable in 5 cases, and poor in 2 cases by one examiner and as good in 32 cases (80%), acceptable in 6 cases, and poor in 2 cases by the other examiner. The inter-rater reliability was determined to be good (Cohen κ = 0.92). Correct osteosynthesis placement was found in 19 cases by one examiner and in 21 cases by the other examiner, with good inter-rater reliability (κ = 0.8). Moderate inter-rater reliability (κ = 0.4) was found for the required duration of elastic IMF. Furthermore, the estimated elastic IMF duration matched the actual duration in fewer than half of the cases. CONCLUSIONS: It is feasible to achieve reliably good radiologic results when operating on condylar process fractures by a transoral approach with endoscopic assistance and angled instruments. Intraoperative 3-dimensional imaging enables instant quality control and prompts surgical revision if needed.

Does Zygomatic Complex Symmetry Differ Between Healthy Individuals and Surgically Treated Patients Using Intraoperative 3-Dimensional Cone Beam Computed Tomographic Imaging?

PURPOSE: Reconstruction of symmetry after zygomaticomaxillary complex (ZMC) fractures is essential for esthetic appearance as well as function. Therefore, this study aimed to analyze whether bony facial symmetry in patients surgically treated for unilateral ZMC fractures via intraoperative imaging differs from that of healthy individuals. PATIENTS AND METHODS: Retrospective and cross-sectional radiographic measurements of patients treated for unilateral ZMC fractures via intraoperative cone beam computed tomography (CBCT) were performed to evaluate the postoperative ZMC symmetry. The same number of healthy individuals without any history of midfacial trauma matched for age and gender served as the control group. Asymmetry of the ZMC was determined by measuring bilateral differences in the malar eminence position on CBCT. In addition, demographic statistics, etiology, and fracture type were analyzed. RESULTS: Analysis of 57 surgically treated patients and 57 healthy individuals with a mean age of 29 years was performed. No significant difference in the symmetry of the malar eminence position was observed between healthy individuals and patients treated for a unilateral ZMC fracture (P = .890). In one third of patients, corrections were needed after intraoperative CBCT control. CONCLUSIONS: The results of this study indicate that, on average, a ZMC asymmetry of 1.6 mm is observed in healthy individuals. Furthermore, the use of intraoperative CBCT for the treatment of dislocated ZMC fractures helps to achieve precise anatomic, symmetrical repositioning and is suggested to improve the quality of care.

Improved Results in Closed Reduction of Zygomatic Arch Fractures by the Use of Intraoperative Cone-Beam Computed Tomography Imaging.

PURPOSE: The use of intraoperative imaging could help overcome the insufficiency of closed reduction that can result from the absence of visible feedback to evaluate the accuracy of the reduction in isolated zygomatic arch fractures. The aim of the present study was to evaluate the use of intraoperative 3-dimensional cone-beam computed tomography (CBCT) to improve the accuracy of reduction, by measuring the remaining cortical step and dislocation angle. We also evaluated the effect of CBCT on the need for repeat surgery. PATIENTS AND METHODS: We performed a retrospective cohort study of patients who had undergone zygomatic arch reduction surgery from January 2008 to May 2018. The patients were grouped according to the predictor variables into group A (postoperative radiologic follow-up studies) and group B (intraoperative CBCT imaging studies). The primary outcome variables were the remaining cortical step and dislocation angle compared with the ideal virtually mirrored position. These were assessed as measures of reduction accuracy. The secondary variables included age, gender, surgery duration, and fracture type. Statistical analysis was performed using a robust multiple regression analysis. RESULTS: The 45 patients were divided into 2 subgroups with 18 patients in the no intraoperative imaging (control) group and 27 patients in the intraoperative imaging group. Insufficient reduction occurred in 1 patient in the group without intraoperative imaging, leading to repeat surgery. No repeat surgery was necessary in the intraoperative imaging group. The remaining cortical step of the intraoperative imaging group was significantly lower than that of the control group (0.18 vs 2.03 mm; P < .001). For the remaining dislocation angle, similar findings were observed but without statistical significance (3.93° vs 7.75°; P = .58). CONCLUSIONS: The use of intraoperative CBCT significantly increased the accuracy of the reduction. Furthermore, the need for repeat surgery was not required for any patient in the intraoperative imaging group with CBCT-guided reduction.

Synergy of Electrostatic and π-π Interactions in the Realization of Nanoscale Artificial Photosynthetic Model Systems.

In the scientific race to build up photoactive electron donor-acceptor systems with increasing efficiencies, little is known about the interplay of their building blocks when integrated into supramolecular nanoscale arrays, particularly in aqueous environments. Here, we describe an aqueous donor-acceptor ensemble whose emergence as a nanoscale material renders it remarkably stable and efficient. We have focused on a tetracationic zinc phthalocyanine (ZnPc) featuring pyrenes, which shows an unprecedented mode of aggregation, driven by subtle cooperation between electrostatic and π-π interactions. Our studies demonstrate monocrystalline growth in solution and a symmetry-breaking intermolecular charge transfer between adjacent ZnPcs upon photoexcitation. Immobilizing a negatively charged fullerene (C60 ) as electron acceptor onto the monocrystalline ZnPc assemblies was found to enhance the overall stability, and to suppress the energy-wasting charge recombination found in the absence of C60 . Overall, the resulting artificial photosynthetic model system exhibits a high degree of preorganization, which facilitates efficient charge separation and subsequent charge transport.

The Impact of Aggregation on the Photophysics of Spiro-Bridged Heterotriangulenes.

We report on the impact of the central heteroatom on structural, electronic, and spectroscopic properties of a series of spirofluorene-bridged heterotriangulenes and provide a detailed study on their aggregates. The in-depth analysis of their molecular structure by NMR spectroscopy and X-ray crystallography was further complemented by density functional theory calculations. With the aid of extensive photophysical analysis the complex fluorescence spectra were deconvoluted showing contributions from the peripheral fluorenes and the heteroaromatic cores. Beyond the molecular scale, we examined the aggregation behavior of these heterotriangulenes in THF/H2 O mixtures and analyzed the aggregates by static and dynamic light scattering. The excited-state interactions within the aggregates were found to be similar to those found in the solid state. A plethora of morphologies and superstructures were observed by scanning electron microscopy of drop-casted dispersions.

Diversification in gravel beaches: A radiation of interstitial clingfish (Gouania, Gobiesocidae) in the Mediterranean Sea.

We report a hitherto unknown radiation within the clingfishes (Gobiesocidae), discovered in one of the best-studied marine biomes, the Mediterranean Sea. The monotypic genus Gouania is a Mediterranean endemic inhabiting the interstices of gravel beaches. Using geometric morphometric analyses, we identified two distinct morphotypes (characterized by a slender and a stout body shape, respectively) among Gouania willdenowi sampled from the three major Mediterranean basins (Eastern, Western and Adriatic). Slender and stout G. willdenowi occurred sympatrically in the Adriatic and the Eastern Mediterranean basins. Only the stout morphotype was found in the Western Mediterranean. Morphotypes were further distinguished by relative eye size and number of vertebrae. Based on mitochondrial and nuclear gene sequences, five highly divergent clades (COI-based K2P distances of 8 to 15%) were identified. The clades represented, respectively, stout Adriatic, slender Adriatic, stout Eastern, slender Eastern and stout Western Mediterranean Gouania. This suggests that the genus Gouania comprises at least five different species. Phylogenetic relationships among clades furthermore imply repeated evolution of convergent morphotypes. The onset of the Gouania radiation was dated to 3.23 (95% HPD 2.08-5.90) mya, and may therefore have overlapped with or followed the Messinian salinity crisis.

Outcome of Surgically Treated Fractures of the Condylar Process by an Endoscopic Assisted Transoral Approach.

PURPOSE: Fractures of the condylar process are frequent. Ideal management of these fractures, as discussed in the literature, is controversial. Some recent meta-analyses have favored open reduction and internal fixation using various approaches. A strictly transoral approach has been described to minimize scarring and risk of facial nerve injury but has restricted visibility. This retrospective study analyzed outcomes of patients with unilateral mandibular condyle fractures who were treated by open reduction and internal fixation through an endoscopic-assisted transoral approach. MATERIALS AND METHODS: This study included 40 patients who were operated on from January 2015 through December 2016. All patients underwent surgery for a condylar process fracture using an endoscopic-assisted transoral approach. Fracture classification, demographic, and outcome data were collected. RESULTS: Most condylar process fractures were caused by falls from a height less than 3 m. Most were condylar base fractures and classified according to Spiessl and Schroll as Classes I and II. Sixteen patients showed a preoperative malocclusion, whereas 2 patients showed a slight postoperative malocclusion. In cases in which only 1 plate could be placed, the proximal fragment was shorter. A higher Spiessl and Schroll class showed a tendency toward longer operation times. For postoperative outcomes, 1 case of temporary facial palsy was the worst complication (2.5%), 2 cases exhibited minimal occlusal interference (5%), and 1 case exhibited a deviated mouth opening (2.5%). Ramus height was restored in all cases. No chronic pain was found in any cases. CONCLUSIONS: It is feasible to treat condylar process fractures in a safe manner using a transoral approach with endoscopic assistance and angled instruments without facial scarring and at a low complication rate. The endoscope improves the restricted visibility of the transoral approach, although a learning curve is necessary. This applies especially to dislocated fractures or to fractures with a short proximal fragment.

First record of the family Ameronothridae (Acari: Oribatida) from Japan - new species, juvenile morphology, ecology and biogeographic remarks.

The Ameronothridae are recorded for the first time from Japanese coasts with the new species Ameronothrus yoichi sp. n. from Hokkaido. The report of this species represents the most southern occurrence of an Ameronothrus species in the Asian Pacific region. Ameronothrus yoichi sp. n. can be easily distinguished from its congeners by the conspicuously pusticulate body surface and the loss of dorsal companion setae d on all genua in the adult stage. Based on adult and juvenile morphology, a close relation to Ameronothrus maculatus and A. schneideri is suggested. Ameronothrus yoichi sp. n. is classified as a lichenivorous inhabitant of sediment-free rocky coastal substrates. Due to a lack of genetic sequence data of nearly all ameronothrid species a molecular genetic comparison is yet unfeasible, but a Bayesian inference tree based on the 18S rRNA gene shows a paraphyletic clustering of the ameronothrid A. yoichi sp. n. and Paraquanothrus grahami. http://www.zoobank.org/urn:lsid:zoobank.org:pub:5B772E2C-7D5E-4C86-9955-AB84A84C50DA.

Cone Beam Computed Tomography Evaluation of the Artery in the Lateral Wall of the Maxillary Sinus: Retrospective Analysis of 602 Sinuses.

PURPOSE: This retrospective study evaluates the location of the arteries in the maxillary sinus, particularly in the middle portion, using cone beam computed tomography (CBCT) scans that can detect the lateral arteries with high reliability. METHODS: In this retrospective study, 2 experienced independent examiners evaluated 602 sinuses on CBCT scans. DISCUSSION: No significant correlation was found between the location of arteries and the patient's age, sex, or dentition. In 92.0% (P ≤ 0.001) of the sinuses, at least 1 arterial branch was detectable. CONCLUSION: Based on the CBCT scans, we found that a very high proportion of patients have the maxillary artery in their lateral sinus wall, which is important information for sinus augmentation or sinus surgery.

2A-DUB/Mysm1 Regulates Epidermal Development in Part by Suppressing p53-Mediated Programs.

Development and homeostasis of the epidermis are governed by a complex network of sequence-specific transcription factors and epigenetic modifiers cooperatively regulating the subtle balance of progenitor cell self-renewal and terminal differentiation. To investigate the role of histone H2A deubiquitinase 2A-DUB/Mysm1 in the skin, we systematically analyzed expression, developmental functions, and potential interactions of this epigenetic regulator using Mysm1-deficient mice and skin-derived epidermal cells. Morphologically, skin of newborn and young adult Mysm1-deficient mice was atrophic with reduced thickness and cellularity of epidermis, dermis, and subcutis, in context with altered barrier function. Skin atrophy correlated with reduced proliferation rates in Mysm1-/- epidermis and hair follicles, and increased apoptosis compared with wild-type controls, along with increases in DNA-damage marker γH2AX. In accordance with diminished α6-Integrinhigh+CD34⁺ epidermal stem cells, reduced colony formation of Mysm1-/- epidermal progenitors was detectable in vitro. On the molecular level, we identified p53 as potential mediator of the defective Mysm1-deficient epidermal compartment, resulting in increased pro-apoptotic and anti-proliferative gene expression. In Mysm1-/-p53-/- double-deficient mice, significant recovery of skin atrophy was observed. Functional properties of Mysm1-/- developing epidermis were assessed by quantifying the transepidermal water loss. In summary, this investigation uncovers a role for 2A-DUB/Mysm1 in suppression of p53-mediated inhibitory programs during epidermal development.

Can Cold Water Immersion Enhance Recovery in Elite Olympic Weightlifters? An Individualized Perspective.

We investigated whether cold water immersion (CWI) after intensive training sessions can enhance recovery in elite Olympic weightlifters, taking into account each athlete's individual response pattern. The entire German male Olympic weightlifting national team participated in the study (n = 7), ensuring collection of data from elite athletes only. Using a randomized cross-over design, the athletes went through 2 high-intensity training microcycles consisting of 5 training sessions that were either followed by a CWI or passive recovery. Barbell speed in a snatch pull movement, blood parameters, and subjective ratings of general fatigue and recovery were assessed throughout the study. Physical performance at 2 snatch pull intensities (85% one repetition maximum [1RM]: -0.15% vs. -0.22%, p = 0.94; 90% 1RM: -0.7% vs. +1.23%, p = 0.25) did not differ significantly (condition × time). Although questionnaires revealed a significant decline in the ratings of overall recovery (p < 0.001) and a significantly higher rating of overall stress (p = 0.03) over time, no significant differences between conditions (p = 0.14; p = 0.98) could be revealed. Similarly, neither of the analyzed blood parameters changed significantly between conditions over time (creatine kinase: p = 0.53; urea: p = 0.43; cortisol: p = 0.59; testosterone: p = 0.53; testosterone:cortisol ratio: p = 0.69). In general, CWI did not prove to be an effective tool to enhance recovery in elite Olympic weightlifters over a 3-day intensive training period. However, even though the group was rather homogeneous with regard to performance, there were considerable intersubject differences in their response to CWI. It seems that athletes are best advised on a case-by-case basis.