A novel mutation in the COL12A1 gene.

Mutations in collagen XII have been recently described to cause modifications in the connective tissue which phenotypic demonstration resembles that of collagen VI related myopathies. We describe a Caucasian 14-year old girl who complained to her doctor about not being able to practice schools' sports due to recurrent clavicle dislocation when trying to throw a ball. In addition, when questioned, she also reported a notion of lower strength in the upper limbs when compared to same age peers.

The Protective Effect of Biofilm Matrix against Phage Predation.

is a major causative agent of nosocomial infections, mainly associated with the use of indwelling devices, on which this bacterium forms structures known as biofilms. Due to biofilms' high tolerance to antibiotics, virulent bacteriophages were previously tested as novel therapeutic agents. However, several staphylococcal bacteriophages were shown to be inefficient against biofilms.

Specific Therapy for Transthyretin Cardiac Amyloidosis: A Systematic Literature Review and Evidence-Based Recommendations.

Background The emergence of specific therapies for transthyretin cardiac amyloidosis (CA) warrants the need for a systematic review of the literature. Methods and Results A systematic review of the literature was conducted according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A systematic search was performed on MEDLINE, PubMed, and Embase databases on November 29, 2019.

Productivity Losses and Their Explanatory Factors Amongst People with Impaired Vision.

To estimate productivity losses amongst people with impaired vision in Portugal and to investigate explanatory factors associated with non-participation in the labour market. A total of 546 visually impaired individuals participated in face-to-face interviews. Participants were asked about their workforce participation to determine productivity (employment status questionnaire), their health-related quality of life - HRQoL (EQ-5D) and their visual acuity and visual ability (Activity Inventory).

Scoring reading parameters: An inter-rater reliability study using the MNREAD chart.

Purpose: First, to evaluate inter-rater reliability when human raters estimate the reading performance of visually impaired individuals using the MNREAD acuity chart. Second, to evaluate the agreement between computer-based scoring algorithms and compare them with human rating.

Methods: Reading performance was measured for 101 individuals with low vision, using the Portuguese version of the MNREAD test.

Diagnostic Delay of Multiple Sclerosis in a Portuguese Population.

Introduction: Multiple sclerosis is a chronic inflammatory disease, in which a diagnostic delay could reduce the available therapeutic options. Therefore, it is important to monitor the time to diagnosis and understand factors that may potentially reduce it. The objective of this study was to determine the time between the first symptoms and the diagnosis of multiple sclerosis and which factors may contribute to a diagnostic delay.

Attitudes Towards Functional Foods Scale: Psychometric Proprieties and Adaptation for Use Among Adolescents.

Introduction: Functional foods are those that promote health and well-being and/or decrease the risk of certain chronic diseases. It is known that young people' knowledge about functional foods is low. The aim of this study is to assess the psychometric proprieties of the "Attitudes towards Functional Foods Scale" in a sample of adolescents and, based on that analysis, adapting the scale for its use among this population group.

Late Ophthalmologic Referral of Anisometropic Amblyopia: A Retrospective Study of Different Amblyopia Subtypes.

Introduction: Amblyopia requires a timely diagnosis and treatment to attain maximum vision recovery. Specialty literature is lacking on how early amblyopia is referred. We aimed to understand if there are mean age differences at first referral for ophthalmologic tertiary center consultation among non-amblyopic and different types of amblyopia, in a context of lack of population screening.

Production of blueberry wine and volatile characterization of young and bottle-aging beverages.

The aim of this study was the production of blueberry wine and the characterization of the volatile compounds of fermented and aging in bottle products. Multivariate data analysis indicated similarity of volatile compounds released when fermentations were conducted at laboratory-scale and midscale, with the exception of one replicate creating a distinctive group characterized by low concentrations of acetaldehyde, methanol, 1-hexanol, and ethyl hexanoate, and the production of polyalcohols such as 2,3-butanediols. This experiment was the only one where no adjustments of were performed.

[Medical Student Secrecy, its Link to the Duty of Confidentiality and the Right to Access and Reuse Health Information].

The authors address the legal void that exists regarding medical student access to clinical records and health information that local healthcare organizations hold under legal and institutional custody. They develop a legal thesis that configures the creation of medical student professional secrecy and its connection with the duty of confidentiality as assumptions that underlie the medical student's right to access and reuse health information. Medical students have the legitimacy to access health information and clinical records, as they bear an unequivocal informational, legitimate, constitutionally protected and sufficiently relevant need.

Developing reduced SNP assays from whole-genome sequence data to estimate introgression in an organism with complex genetic patterns, the Iberian honeybee ().

The most important managed pollinator, the honeybee ( L.), has been subject to a growing number of threats. In western Europe, one such threat is large-scale introductions of commercial strains (C-lineage ancestry), which is leading to introgressive hybridization and even the local extinction of native honeybee populations (M-lineage ancestry).

Absent Foveal Pit, Also Known as Fovea Plana, in a Child without Associated Ocular or Systemic Findings.

The purpose of this report is to describe a case of bilateral foveal hypoplasia in the absence of other ophthalmological or systemic manifestations. We characterize the case of a 9-year-old Caucasian male who underwent full ophthalmologic examination, including functional measures of vision and structural measurements of the eye. Best corrected visual acuity was 0.

The use of informal care by people with vision impairment.

Purpose: To estimate and characterize the use of informal care by people with vision impairment in Portugal.

Methods: A total of 546 visually impaired individuals were recruited from Portuguese hospitals. Clinical information was obtained from medical records, socio-demographic details and informal care use were collected during face-to-face interviews.

Physicians' self-assessed empathy levels do not correlate with patients' assessments.

Background: Empathy is a fundamental humanistic component of patient care which facilitates efficient and patient-centered clinical encounters. Despite being the principal recipient of physician empathy little work on how patients perceive/report receiving empathy from their physicians has been undertaken. In the context of doctor-patient interactions, knowledge about empathy has mostly originated from physicians' perspectives and has been developed from studies using self-assessment instruments.

[Smoking Cessation after Bladder Cancer Diagnosis].

Introduction: Smoking is an important risk factor for the development, recurrence and progression of bladder cancer. Our aim was to analyze smoking habits after diagnosis in bladder cancer patients. Additionally, we evaluated patient knowledge about smoking as a risk factor and the urologist role in promoting abstinence.

Maternal hormonal milieu influence on fetal brain development.

An adverse maternal hormonal environment during pregnancy can be associated with abnormal brain growth. Subtle changes in fetal brain development have been observed even for maternal hormone levels within the currently accepted physiologic ranges. In this review, we provide an update of the research data on maternal hormonal impact on fetal neurodevelopment, giving particular emphasis to thyroid hormones and glucocorticoids.

[The role of social media in academic training in Urology. Adequate use.].

Social media is characterized because all its services are participative. Users of 2.0 technologies can interact easily and openly with other people, share resources and communicate immediately and simultaneously.

Simulation and training in Urology - in collaboration with ESU/ESUT.

Being a Surgeon today means taking on your shoulders countless responsibilities. It is definitely a high-stakes job but, even though the professionals do not go through the intense, focused and demanding training schedule as followed by the other equally risky fields, it doesn't yet require any practical training certification. Simulation was introduced in the aviation field in the early '30s with the "Link Trainer", designed to reproduce the most difficult flying case scenario: landing on an air-carrier.

Climate change affecting oil palm agronomy, and oil palm cultivation increasing climate change, require amelioration.

Palm oil is used in various valued commodities and is a large global industry worth over US$ 50 billion annually. Oil palms (OP) are grown commercially in Indonesia and Malaysia and other countries within Latin America and Africa. The large-scale land-use change has high ecological, economic, and social impacts.

Ultrasound-assisted swelling of bacterial cellulose.

Bacterial cellulose (BC) was obtained by static cultivation using commercial BC gel from scoby. BC membranes (oven dried and freeze-dried) were swelled with 8% NaOH, in the absence and in the presence of ultrasound (US), for 30, 60, and 90 min. The influence of swelling conditions on both physico-chemical properties and molecules entrapment was evaluated.

Adherence to the Mediterranean diet in children: Is it associated with economic cost?

Highlights: The average diet cost was 4.58€ (SD = 1.24) in 6-12 years-old children.

Fifteen Years of Experience from a Medical School' Clinical Skills Laboratory.

Introduction: Medical Education has evolved being defined as a continuum of the medical training from the pre- to the post-graduate period and through a lifetime of medical practice that is mirrored in the competencies framework that several international institutions have established. This creates a challenge to educational institutions (pre- and post-graduate) that traditionally take separate pathways.

Material And Methods: The present report is a description of the efforts carried by the School of Medicine of the University of Minho to implement a strategy of teaching/learning methods that follows modern standards towards constructive alignment of the medical curriculum, from the pre- to the post-graduate.

Biomedical Simulation: Evolution, Concepts, Challenges and Future Trends.

Biomedical simulation is an effective educational complement for healthcare training, both at undergraduate and postgraduate level. It enables knowledge, skills and attitudes to be acquired in a safe, educationally orientated and efficient manner. In this context, simulation provides skills and experience that facilitate the transfer of cognitive, psychomotor and proper communication competences, thus changing behavior and attitudes, and ultimately improving patient safety.