Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.

Background: Distal myopathies (MPDs) are heterogeneous diseases of complex diagnosis whose prevalence and distribution in specific populations are unknown.

Methods: Demographic, clinical, genetic, neurophysiological, histopathological and muscle imaging characteristics of a MPDs cohort from a neuromuscular reference center were analyzed to study their epidemiology, features, genetic distribution and factors related to diagnosis.

Results: The series included 219 patients (61% were men, 94% Spanish and 41% sporadic cases).

Spatial variability of nitrous oxide emissions from croplands and unmanaged natural ecosystems across a large environmental gradient.

Atmospheric nitrous oxide (NO) is a potent greenhouse gas, with long atmospheric residence time and a global warming potential 273 times higher than CO. NO emissions are mainly produced from soils and are influenced by biotic and abiotic factors that can be substantially altered by anthropogenic activities, such as land uses, especially when unmanaged natural ecosystems are replaced by croplands or other uses. In this study, we evaluated the spatial variability of NO emissions from croplands (maize, soybean, wheat, and sugar cane crops), paired with the natural grasslands or forests that they replaced across a wide environmental gradient in Argentina, and identified the key drivers governing the spatial variability of NO emissions using structural equation modeling.

Understanding the Reactivity and Selectivity of Oxazaborolidium Ion-Catalyzed Diels-Alder Reactions Involving Cyclobutenones as Dienophiles.

The poorly understood factors controlling the reactivity and selectivity (both stereo- and enantioselectivity) of catalyzed Diels-Alder reactions involving cyclobutenones as dienophiles have been analyzed in detail by means of Density Functional Theory calculations. To this end, the reactions with cyclopentadiene and furan as dienes and 3-(methoxycarbonyl)cyclobutenone catalyzed by Corey's chiral oxazaborolidium ion (COBI) have been selected and compared to their analogous uncatalyzed transformations. The combined Activation Strain Model of reactivity and Energy Decomposition Analysis methods have been used to quantitatively understand the acceleration and selectivity induced by the catalyst in this reaction.

Housing and Husbandry Factors Affecting Zebrafish () Novel Tank Test Responses: A Global Multi-Laboratory Study.

The reproducibility crisis in bioscience, characterized by inconsistent study results, impedes our understanding of biological processes and global collaborative studies offer a unique solution. This study is the first global collaboration using the zebrafish () novel tank test, a behavioral assay for anxiety-like responses. We analyzed data from 20 laboratories worldwide, focusing on housing conditions and experimental setups.

Is biochemical pregnancy loss associated with embryo or endometrium? A retrospective cohort study in frozen single embryo transfer of own and donated oocytes.

Study Question: Does the use of preimplantation genetic testing for aneuploidies (PGT-A), personalized embryo transfer with endometrial receptivity assay (pET-ERA), or the use of donated oocytes modify the incidence of biochemical pregnancy loss (BPL) in frozen single embryo transfer (FSET)?

Summary Answer: Following FSET, BPL incidence does not differ between own and donated oocytes, and the use of PGT-A with euploid embryo transfer or pET-ERA results in a similar incidence of BPL compared to cycles without embryo or endometrial analysis.

What Is Known Already: BPL occurs frequently after IVF, and many factors have been associated with its incidence. The etiology of BPL is not well known, but the most probable cause seems to be either a low-quality embryo or impaired endometrial maintenance.

Understanding the Reactivity of Diazaborinines towards the Activation of σ-Bonds.

The poorly understood factors governing the small molecule activation reactions mediated by diazaborinines have been computationally explored in detail using quantum chemical tools. To this end, the activation of E-H σ-bonds (E = H, C, Si, N, P, O, S) has been investigated. These reactions, which proceed in a concerted manner, are exergonic and, in general, associated with relatively low activation barriers.

η -Metalated Aryl Iodides in Diels-Alder Cycloaddition Reactions: Mode of Activation and Catalysis.

The potential application of η -metalated aryl iodides as organocatalyst has been explored by means of computational methods. It is found that the enhanced halogen bonding donor ability of these species, in comparison with their demetalated counterparts, translates into a significant acceleration of the Diels-Alder cycloaddition reaction involving cyclohexadiene and methyl vinyl ketone. The factors behind this acceleration, the endo-exo selectivity of the process and the influence of the nature of the transition metal fragment in the activity of these species are quantitatively explored in detail by means of the combination of the Activation Strain Model of reaction and the Energy Decomposition Analysis methods.

Origin of Catalysis and Selectivity in Lewis Acid-Promoted Diels-Alder Reactions Involving Vinylazaarenes as Dienophiles.

The poorly understood factors controlling the catalysis and selectivity in Lewis acid-promoted Diels-Alder cycloaddition reactions involving vinylazaarenes as dienophiles have been quantitatively explored in detail by means of computational methods. With the help of the activation strain model and the energy decomposition analysis methods, it is found that the remarkable acceleration induced by the catalysis is mainly due to a significant reduction of the Pauli repulsion between the key occupied π-molecular orbitals of the reactants and not due to the proposed stabilization of the lowest unoccupied molecular orbital (LUMO) of the dienophile. This computational approach has also been helpful to understand the reasons behind the extraordinary regio- and diastereoselectivity observed experimentally.

Thymic Polypeptide Fraction Biomodulina T Decreases Exhausted and Terminally Differentiated EMRA T Cells in Advanced Lung Cancer Patients Treated With Platinum-Based Chemotherapy.

Lung cancer is the second cause of cancer related deaths worldwide. Chemotherapy and immunotherapy represent the current standard of care for advanced NSCLC. Platinum-based chemotherapy expands late-differentiated T cell populations.

Harmless or Threatening? Interpreting the Results of Molecular Diagnosis in the Context of Virus-Host Relationships.

Molecular methods, established in the 1980s, expanded and delivered tools for the detection of vestigial quantities of nucleic acids in biological samples. Nucleotide sequencing of these molecules reveals the identity of the organism it belongs to. However, the implications of such detection are often misinterpreted as pathogenic, even in the absence of corroborating clinical evidence.

A Protocol for the Diagnosis of Autism Spectrum Disorder Structured in Machine Learning and Verbal Decision Analysis.

Autism Spectrum Disorder is a mental disorder that afflicts millions of people worldwide. It is estimated that one in 160 children has traces of autism, with five times the higher prevalence in boys. The protocols for detecting symptoms are diverse.

Nature of the Hydrogen Bond Enhanced Halogen Bond.

The factors responsible for the enhancement of the halogen bond by an adjacent hydrogen bond have been quantitatively explored by means of state-of-the-art computational methods. It is found that the strength of a halogen bond is enhanced by ca. 3 kcal/mol when the halogen donor simultaneously operates as a halogen bond donor and a hydrogen bond acceptor.

Catalysis by Bidentate Iodine(III)-Based Halogen Donors: Surpassing the Activity of Strong Lewis Acids.

The poorly understood mode of activation and catalysis of bidentate iodine(III)-based halogen donors have been quantitatively explored in detail by means of state-of-the-art computational methods. To this end, the uncatalyzed Diels-Alder cycloaddition reaction between cyclohexadiene and methyl vinyl ketone is compared to the analogous process mediated by a bidentate iodine(III)-organocatalyst and by related, highly active iodine(I) species. It is found that the bidentate iodine(III)-catalyst accelerates the cycloaddition by lowering the reaction barrier up to 10 kcal mol compared to the parent uncatalyzed reaction.

Breast Cancer Patients at Increased Risk of Developing Type II Endometrial Cancer: Relative and Absolute Risk Estimation and Implications for Counseling.

Introduction Breast cancer (BC) is a recognized risk factor for endometrial cancer (EC). Emerging literature indicates that it confers a higher risk of type II EC (T2EC) than type I EC (T1EC). Although some surgeons offer a prophylactic hysterectomy to BC patients referred for risk-reducing bilateral salpingo-oophorectomy, insufficient evidence prevents this from being the standard practice.

Pathological Correlations of Neuropsychiatric Symptoms in Institutionalized People with Dementia.

Background: Comprehensive clinicopathological studies of neuropsychiatric symptoms (NPS) in dementia are lacking.

Objective: To describe the pathological correlations of NPS in a sample of institutionalized people with dementia.

Methods: We studied 59 people who were consecutively admitted to a nursing home and donated their brain.

A 5-year multicentre randomized controlled trial comparing personalized, frozen and fresh blastocyst transfer in IVF.

Research Question: Does clinical performance of personalized embryo transfer (PET) guided by endometrial receptivity analysis (ERA) differ from frozen embryo transfer (FET) or fresh embryo transfer in infertile patients undergoing IVF?

Design: Multicentre, open-label randomized controlled trial; 458 patients aged 37 years or younger undergoing IVF with blastocyst transfer at first appointment were randomized to PET guided by ERA, FET or fresh embryo transfer in 16 reproductive clinics.

Results: Clinical outcomes by intention-to-treat analysis were comparable, but cumulative pregnancy rate was significantly higher in the PET (93.6%) compared with FET (79.

An integrated, accurate, rapid, and economical handheld consumer gluten detector.

Celiac disease, characterized by autoimmune reactions to dietary gluten, affects up to 3 million in the US and approximately 0.5%-1% globally. A strict, lifelong gluten-free diet is the only treatment.

Low-intensity LED therapy (658 nm) on burn healing: a series of cases.

The objective of this study was to evaluate the effects of LED on burns healing. Five patients with skin burns were submitted to photobiomodulation by LED, GaAsIP diode, (λ 658 nm) with 40 mW, 7 J/cm on every other day. Biopsies of burned skin were performed and the healing process was photographed.

TRANSDISCIPLINARITY IN STRATEGIC DECISIONS FOR ONCOLOGICAL TREATMENTS.

The current models for equity and access to new oncological treatments are under strain due to the economic and demographic crisis in Europe as well as the rising costs of innovative drugs. Cancer treatment needs a model of patient-centered care in which an interdisciplinary care plan, based on evidence-based practice is essential for patient wellbeing. Physicians should be focused in the doctor-patient relationship and informed consent is important, especially when new medicines are prescribed.

Long-term functional evaluation of videoarthroscopic treatment of partial injuries of the rotator cuff.

Objective: To compare the functional results from high and low-grade isolated partial lesions of the supraspinatus tendon of bursal and articular types, after arthroscopic treatment.

Methods: Sixty-four patients with isolated partial lesions of the supraspinatus tendon were evaluated. The mean length of follow-up was 76 months (range: 29-193).

Oocyte donation outcome after oncological treatment in cancer survivors.

Objective: To study reproductive outcome in patients cured of cancer who required oocyte donation (OD) owing to iatrogenic ovarian dysfunction.

Design: Multicenter, unmatched, retrospective cohorts study.

Setting: Private, university-affiliated group of clinics.

Normocalcemic primary hyperparathyroidism: long-term follow-up associated with multiple adenomas.

Normocalcemic primary hyperparathyroidism (NPHPT) is a condition characterized by elevation of the parathyroid hormone (PTH) in the presence of normal serum calcium and the absence of secondary causes. The case described illustrates the long-term follow-up of a postmenopausal woman with NPHPT patient who progressed with multiple adenomas. This case reports a 77-year-old female who has chronic generalized pain and osteoporosis.

Maternal physical activity, cervical length and its relation to spontaneous vaginal birth at term.

Objective: Physical activity during pregnancy is known to be beneficial, however there are controversies about the risk of preterm labor, and there is no published data to assess the association between cervical length and maternal physical activity during pregnancy. Therefore, the objective of the study was to describe the cervical length in the second and third trimesters, correlating with physical activity, anthropometric characteristics, and obstetric results.

Methods: Prospective cohort with 56 pregnant women, allocated in two groups according to the answers obtained by a validating questionnaire on physical activity.

Treatment of luteal phase defects in assisted reproduction.

Abnormal luteal function is a common issue in assisted reproduction techniques associated with ovarian stimulation probably due to low levels of LH in the middle and in the late luteal phase. This defect seems to be associated with supraphysiological steroid levels at the end of follicular phase. The luteal phase insufficiency has not got a diagnostic test which has proven reliable in a clinical setting.