Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters

We report on two Portuguese sisters with a very similar phenotype characterized by severe intellectual disability, absent speech, relative macrocephaly, coarse face, cerebellar hypotrophy, and severe ataxia. Additional common features include increased thickness of the cranial vault, delayed dental eruption, talipes equino-varus, clinodactyly, and camptodactyly of the fifth finger. The older sister has retinal dystrophy and the younger sister has short stature. Their parents are consanguineous. We suggest this condition constitutes a previously unreported autosomal recessive entity.

Pelvic-floor-muscle-training adherence “modifiers” : a review of primary qualitative studies : 2011 ICS State-of-the-Science Seminar research paper III of IV

Aims This review aims to locate and summarize the findings of qualitative studies exploring the experience of and adherence to pelvic floor muscle training (PFMT) to recommend future directions for practice and research. Methods Primary qualitative studies were identified through a conventional subject search of electronic databases, reference-list checking, and expert contact. A core eligibility criterion was the inclusion of verbatim quotes from participants about PFMT experiences. Details of study aims, methods, and participants were extracted and tabulated. Data were inductively grouped into categories describing “modifiers” of adherence (verified by a second author) and systematically displayed with supporting illustrative quotes. Results Thirteen studies (14 study reports) were included; eight recruited only or predominantly women with urinary incontinence, three recruited postnatal women, and two included women with pelvic organ prolapse. The quality of methodological reporting varied. Six “modifiers” of adherence were described: knowledge; physical skill; feelings about PFMT; cognitive analysis, planning, and attention; prioritization; and service provision. Conclusions Individuals' experience substantial difficulties with capability (particularly knowledge and skills), motivation (especially associated with the considerable cognitive demands of PFMT), and opportunity (as external factors generate competing priorities) when adopting and maintaining a PFMT program. Expert consensus was that judicious selection and deliberate application of appropriate behavior change strategies directed to the “modifiers” of adherence identified in the review may improve PFMT outcomes. Future research is needed to explore whether the review findings are congruent with the PFMT experiences of antenatal women, men, and adults with fecal incontinence.

Health professionals’ and patients’ perspectives on pelvic floor muscle training adherence : 2011 ICS State-of-the-Science Seminar research paper IV of IV

Aims There is scant information on pelvic floor muscle training (PFMT) adherence barriers and facilitators. A web-based survey was conducted (1) to investigate whether responses from health professionals and the public broadly reflected findings in the literature, (2) if responses differed between the two groups, and (3) to identify new research directions. Methods Health professional and public surveys were posted on the ICS website. PFMT adherence barriers and facilitators were divided into four categories: physical/condition, patient, therapy, and social-economic. Responses were analyzed using descriptive statistics from quantitative data and thematic data analysis for qualitative data. Results Five hundred and fifteen health professionals and 51 public respondents participated. Both cohorts felt “patient-related factors” constituted the most important adherence barrier, but differed in their rankings of short- and long-term barriers. Health professionals rated “patient-related” and the public “therapy-related” factors as the most important adherence facilitator. Both ranked “perception of PFMT benefit” as the most important long-term facilitator. Contrary to published findings, symptom severity was not ranked highly. Neither cohort felt the barriers nor facilitators differed according to PFM condition (urinary/faecal incontinence, pelvic organ prolapse, pelvic pain); however, a large number of health professionals felt differences existed across age, gender, and ethnicity. Half of respondents in both cohorts felt research barriers and facilitators differed from those in clinical practice. Conclusions An emphasis on “patient-related” factors, ahead of “condition-specific” and “therapy-related,” affecting PFMT adherence barriers was evident. Health professionals need to be aware of the importance of long-term patient perception of PFMT benefits and consider enabling strategies.

Pelvic-floor-muscle-training adherence “modifiers” : a review of primary qualitative studies : 2011 ICS State-of-the-Science Seminar research paper III of IV

Aims This review aims to locate and summarize the findings of qualitative studies exploring the experience of and adherence to pelvic floor muscle training (PFMT) to recommend future directions for practice and research. Methods Primary qualitative studies were identified through a conventional subject search of electronic databases, reference-list checking, and expert contact. A core eligibility criterion was the inclusion of verbatim quotes from participants about PFMT experiences. Details of study aims, methods, and participants were extracted and tabulated. Data were inductively grouped into categories describing “modifiers” of adherence (verified by a second author) and systematically displayed with supporting illustrative quotes. Results Thirteen studies (14 study reports) were included; eight recruited only or predominantly women with urinary incontinence, three recruited postnatal women, and two included women with pelvic organ prolapse. The quality of methodological reporting varied. Six “modifiers” of adherence were described: knowledge; physical skill; feelings about PFMT; cognitive analysis, planning, and attention; prioritization; and service provision. Conclusions Individuals' experience substantial difficulties with capability (particularly knowledge and skills), motivation (especially associated with the considerable cognitive demands of PFMT), and opportunity (as external factors generate competing priorities) when adopting and maintaining a PFMT program. Expert consensus was that judicious selection and deliberate application of appropriate behavior change strategies directed to the “modifiers” of adherence identified in the review may improve PFMT outcomes. Future research is needed to explore whether the review findings are congruent with the PFMT experiences of antenatal women, men, and adults with fecal incontinence.

Health professionals’ and patients’ perspectives on pelvic floor muscle training adherence : 2011 ICS State-of-the-Science Seminar research paper IV of IV

Aims There is scant information on pelvic floor muscle training (PFMT) adherence barriers and facilitators. A web-based survey was conducted (1) to investigate whether responses from health professionals and the public broadly reflected findings in the literature, (2) if responses differed between the two groups, and (3) to identify new research directions. Methods Health professional and public surveys were posted on the ICS website. PFMT adherence barriers and facilitators were divided into four categories: physical/condition, patient, therapy, and social-economic. Responses were analyzed using descriptive statistics from quantitative data and thematic data analysis for qualitative data. Results Five hundred and fifteen health professionals and 51 public respondents participated. Both cohorts felt “patient-related factors” constituted the most important adherence barrier, but differed in their rankings of short- and long-term barriers. Health professionals rated “patient-related” and the public “therapy-related” factors as the most important adherence facilitator. Both ranked “perception of PFMT benefit” as the most important long-term facilitator. Contrary to published findings, symptom severity was not ranked highly. Neither cohort felt the barriers nor facilitators differed according to PFM condition (urinary/faecal incontinence, pelvic organ prolapse, pelvic pain); however, a large number of health professionals felt differences existed across age, gender, and ethnicity. Half of respondents in both cohorts felt research barriers and facilitators differed from those in clinical practice. Conclusions An emphasis on “patient-related” factors, ahead of “condition-specific” and “therapy-related,” affecting PFMT adherence barriers was evident. Health professionals need to be aware of the importance of long-term patient perception of PFMT benefits and consider enabling strategies.

Advanced numerical modeling of masonry vaulted structures based on BIM parametric geometry generation

Vaults are an architectural element which during construction history have been built with a great variety of different materials, shapes, and sizes. The shape of these structural elements was often dependent by the necessity to cover complex spaces, by the needed loading capacity, or by architectural aesthetics. Within this complex scenario masonry patterns generates also different effects on loading capacity, load percolation and stiffness of the structure. These effects were been extensively investigated, both with empirical observations and with modern numerical methods. While most of them focus on analyzing the load bearing capacity or the texture effect on vaulted structures, the aim of this analysis is to investigate on the effects of the variation of a single structural characteristic on the load percolation in the vault. Moreover, an additional purpose of the work is related to the coding of a parametrical model aiming at generating different masonry vaulted structures. Nevertheless, proposed script can generate different typology of vaulted structure basing on some structural characteristics, such as the span and the length to cover and the dimensions of the blocks.

Musculoskeletal disorders, research quality, and pelvic floor health in sports: exploring current evidence and new perspectives

Background. Pelvic floor dysfunction (PFD) is an umbrella term that includes a myriad of conditions such as urinary (UI) and anal incontinence, pelvic organ prolapse, pelvic pain, and sexual dysfunction. Literature showed high prevalence rates of PFD among athletes, especially UI, with high-impact sports have been linked with an increased risk of developing symptoms. However, comprehensive research summarising PFD prevalence across sexes, exploring treatment options, and the absence of a standardised referral screening tool are notable gaps. Misinformation is also prevalent in the sports medicine field. Methods. This doctoral project comprises four studies addressing different aspects of pelvic health in athletes. The first two studies were scoping reviews of epidemiological PFD data in male and female athletes, as well as available interventions. Study 3 concerned the development of a new screening tool for PFD in female athletes, aiming to guide sports medicine clinicians in referring patients to PFD specialists through a worldwide Delphi consensus. Study 4 summarised all previous findings, integrating data into an infographic. Results and conclusions. In Study 1, the findings of 100 articles on PFD in both sexes have been collected, highlighting a higher prevalence of studies on female athletes evaluating UI across multiple sports. Other conditions remain rarely investigated. Study 2 found a diverse range of interventions for female PFD, with a notable emphasis on conservative approaches. Recommendations for clinical practice often relied on the transferability of results from the nonathlete population or expert opinions. In Study 3, 41 international experts took part in the consensus development of the Pelvic Floor Dysfunction-ScrEeNing Tool IN fEmale athLetes (PFD-SENTINEL). It incorporates a cluster of PFD symptoms, items (risk factors, clinical, and sports-related characteristics), and a clinical algorithm. Lastly, Study 4 included ten evidence-based information with a relative description concerning pelvic floor health in athletes.

Computational Analysis Based on Parametric Models of Historic Masonry Vaulted Structures Strengthened by Fiber-Reinforced Composite Materials

Historic vaulted masonry structures often need strengthening interventions that can effectively improve their structural performance, especially during seismic events, and at the same time respect the existing setting and the modern conservation requirements. In this context, the use of innovative materials such as fiber-reinforced composite materials has been shown as an effective solution that can satisfy both aspects. This work aims to provide insight into the computational modeling of a full-scale masonry vault strengthened by fiber-reinforced composite materials and analyze the influence of the arrangement of the reinforcement on the efficiency of the intervention. At first, a parametric model of a cross vault focusing on a realistic representation of its micro-geometry is proposed. Then numerical modeling, simulating the pushover analyses, of several barrel vaults reinforced with different reinforcement configurations is performed. Finally, the results are collected and discussed in terms of force-displacement curves obtained for each proposed configuration.