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Polydactyly and syndactyly, which are commonly encountered congenital limb deformities, rarely occur together and are linked with significant genetic mutations. This report sheds light on a unique co-presentation involving mutations in both the GLI3 and TBX5 genes, offering a deeper understanding of the genetic interactions that may influence limb development. This case report is important to increase our knowledge on genetic bases of limb malformations. We report the case of an 8-month-old boy, born to non-consanguineous parents, presenting with both polydactyly and syndactyly in his limbs, in particular, complete syndactyly between the third to fifth fingers and post-axial polydactyly of the feet. His father showed a similar phenotype. Genetic testing identified a pathogenic heterozygous variant in the GLI3 gene (c .3762 T > A, p.(Tyr1254 *)) and a variant of uncertain significance in the TBX5 gene (c .1063 C>T, p.(Arg355Cys)). This case highlights the complex nature of diagnosing and managing congenital limb deformities driven by genetic factors. It underscores the critical importance of comprehensive genetic testing in determining the etiology of limb malformations. The GLI3 variant, classified according to ACMG guidelines as a class IV mutation, likely results in a truncated protein due to a premature stop codon, confirmed by family segregation analysis indicating its paternal origin, suggesting autosomal dominant inheritance. Notably, the TBX5 gene variant, often associated with Holt-Oram syndrome—which is characterized by only hand skeletal anomalies and early-onset atrial fibrillation—suggests a risk of developing cardiac issues that are not currently present but may emerge as the child grows. This potential for evolving clinical manifestations necessitates vigilant long-term monitoring and may influence future medical management and therapeutic approaches.

IntroductionPhysical activity (PA) promotes significant physical and psychosocial benefits for breast cancer survivors. While evidence exists regarding recommendations for the frequency, duration and intensity of exercise that optimise PA benefits for cancer survivors, the role of the environment in achieving optimal outcomes has yet to be determined. This paper presents a protocol for a clinical trial to evaluate the feasibility of a 3-month nature-based walking programme for breast cancer survivors. Secondary outcomes assessed include the impact of the intervention on fitness, quality of life outcomes, and biomarkers of ageing and inflammation.Methods and analysisThe trial is a 12-week single-arm pilot study. Twenty female breast cancer survivors will engage in a supervised moderate intensity walking intervention in small groups in a nature reserve for 50 minutes three times per week. Data will be collected at baseline and end of study, and include assessment of inflammatory cytokines and anti-inflammatory myokines (TNF-α, IL-1ß, IL-6, CRP, TGF-ß, IL-10, IL-13), as well as ageing (DNA methylation, ageing genes) biomarkers; surveys (Patient-Reported Outcomes Measurement Information System-29, Functional Assessment of Cancer Therapy-General, Post-Traumatic Growth Inventory); and fitness assessments (6 min Walk Test, Grip-Strength, One Repetition-Maximum Leg Press). Participants will also complete weekly surveys assessing social support and participate in an exit interview. This is an important first step for future research on the influence of exercise environment on cancer survivor PA outcomes.Ethics and disseminationThis study was approved by the Cedars Sinai Medical Center Institutional Review Board (IIT2020-20). Findings will be disseminated through academic manuscripts, conferences, and community presentations.Trial registration numberNCT04896580.

Background. It has been shown in the very recent literature that human walking generates rhythmic motor patterns with hidden time harmonic structures that are represented (at the subject’s comfortable speed) by the occurrence of the golden ratio as the the ratio of the durations of specific walking gait subphases. Such harmonic proportions may be affected—partially or even totally destroyed—by several neurological and/or systemic disorders, thus drastically reducing the smooth, graceful, and melodic flow of movements and altering gait self-similarities. Aim. In this paper we aim at, preliminarily, showing the reliability of a technologically assisted methodology—performed with an easy to use wearable motion capture system—for the evaluation of motion abilities in Ataxia-Telangiectasia (AT), a rare infantile onset neurodegenerative disorder, whose typical neurological manifestations include progressive gait unbalance and the disturbance of motor coordination. Methods. Such an experimental methodology relies, for the first time, on the most recent accurate and objective outcome measures of gait recursivity and harmonicity and symmetry and double support subphase consistency, applied to three AT patients with different ranges of AT severity. Results. The quantification of the level of the distortions of harmonic temporal proportions is shown to include the qualitative evaluations of the three AT patients provided by clinicians. Conclusions. Easy to use wearable motion capture systems might be used to evaluate AT motion abilities through recursivity and harmonicity and symmetry (quantitative) outcome measures.

We study the QCD axion potential in hot and dense quark matter, within an NJL-like model that includes the coupling of the axion to quarks. Firstly we compute the effect of the chiral QCD crossover on the axion mass and self-coupling. Then, we compute the axion potential and study the domain walls. We find that the energy barrier between two adjacent vacuum states decreases in the chirally restored phase: this results in a lower surface tension of the walls. Finally we comment on the possibility of abundant production of walls in hot and dense quark matter.

From the approximate symmetry point of view, a perturbed system of partial differential equations (PDEs) for viscoelastic media is investigated. The corresponding complete approximate symmetry classification is derived and a fundamental task of the paper is the proof of a theorem that explores the relationship between the symmetries of our model and other models. In some physical cases, approximate solutions are computed by means of the approximate generator of the first order approximate group of transformations.

In the framework of approximate symmetries, we investigate a perturbed system of partial differential equations for viscoelastic media with nonlinear dissipation. We completely classify the approximate symmetries and prove a theorem on the relation between the symmetries of two related models. In some physical cases, we find approximate solutions using the generator of the group of transformations taken in the first-order approximation.

Background: Despite the known benefits of physical activity in cancer survivors, adherence to exercise guidelines remains low. Known barriers to adhering to guidelines include a lack of time and an unwillingness to return to treatment facilities. Virtual exercise programming could assist in mitigating these barriers. This protocol presents a single arm pilot study exploring the feasibility of personalized Zoom-delivered exercise training for breast and prostate cancer survivors. A secondary objective is to determine the preliminary efficacy of participation on body composition, estimated VO2max, hand grip, one repetition maximum leg press, resting heart rate, resting blood pressure, exercise self-efficacy, and intentions to remain active. Methods: Breast (n = 10) and prostate (n = 10) cancer survivors will participate in a 24-week feasibility study, including (1) 12 weeks of one-on-one virtual personal training with an exercise physiologist (EP) via Zoom, and (2) individual exercise for a 12-week follow-up period using recordings of Zoom sessions for guidance. Physical assessments and surveys will be implemented at baseline, 12 weeks, and at the end of the study (24 weeks from baseline). Conclusions: While virtual exercise programming became popularized during the pandemic, evidence is still required to understand whether it can successfully address barriers and promote participation.

Accumulating data suggest that matrix metalloproteinases (MMPs), in particular MMP-2 and MMP-9, are deleterious after acute ischaemic stroke. A beneficial effect of MMPs in the repairing phases of cerebral ischaemia has also been proposed. This study investigated the relationship between MMP-2 and MMP-9 and stroke subtypes, clinical recovery and haemorrhagic transformation (HT). We measured MMP-9 and MMP-2 plasma levels in 29 patients with ischaemic stroke at days one and seven. MMP-2 levels increased only in lacunar strokes, whilst MMP-9 increased only in patients with more severe stroke. Basal MMP-2 levels were higher in patients with stable or recovering symptoms whilst MMP-9 values at day seven were correlated with worse clinical outcome. No differences related to the presence of HT were found. This study sustains a different behaviour of MMPs after ischaemic stroke. MMP-2 seems to be expressed early and related to better outcome, whilst MMP-9 seems to be late and related to more severe stroke.

In this paper, the problem of finding approximate symmetries of a wave equation with a small nonlinear dissipation is investigated. It is also explored the relationship between the approximate symmetries of our model and other models.