Preaxial polydactyly of the foot: Clinical and genetic implications for the orthopedic practice based on a literature review and 76 patients

Background and purpose — Preaxial polydactyly of the foot is a rare malformation and clinicians are often unfamiliar with the associated malformations and syndromes. In order to give guidelines for diagnostics and referral to a clinical geneticist, we provide an overview of the presentation using a literature review and our own patient population. Patients and methods — The literature review was based on the Human Phenotype Ontology (HPO) project. From the HPO dataset, all phenotypes describing preaxial polydactyly were obtained and related diseases were identified and selected. An overview was generated in a heatmap, in which the phenotypic contribution of 12 anatomical groups to each disease is displayed. Clinical cases were obtained from our hospital database a

Teaching the problem-solving process in a progressive or in a simultaneous way: a question of making sense?

Over the past two decades, the perennial low success rates of elementary students in math problem-solving and the difficulties experienced by teachers in helping their students with this type of task has become quite a hot topic. In response, several instructional interventions aiming to develop an expert and reflexive approach to problem-solving have been designed. However, these interventions are based on two contrasting learning approaches, either teaching the components of the problem-solving process at the same time or teaching them one at the time. The two approaches have never been compared. Moreover, they have mainly been assessed in terms of cognitive outcomes. Yet, recent studies stress the importance of analyzing the cognitive, motivational and emotional processes involved in problem-solving learning together in order to gain a full understanding of the process. Addressing these limitations is essential to enhance our understanding of problem-solving learning and to design more effective interventions. This paper focuses on this issue by investigating whether it is preferable as regards cognitive, motivational and emotional outcomes, to teach the problem-solving process in all its complexity or one component at a time. This issue is handled both for novice and expert solvers. Data were gathered among 267 upper elementary students. Findings showed that both learning approaches support the short- and long-term acquisition of cognitive problem-solving strategies, regardless of the student’s profile. However, beneficial emotional and motivational outcomes occur only when the problem-solving process is taught in all its complexity, i.e., makes sense for the learner. Novice solvers made less use of the help seeking strategy and persisted more

Apert syndrome: the Paris and Rotterdam philosophy

Introduction: Apert syndrome is a rare type of syndromic craniosynostosis. Patients have an explicit phenotype with craniofacial dysmorphologies and severe symmetrical syndactyly of the hands and feet. This review includes background information about the syndrome and several aspects of the treatment. Areas covered: The cause of Apert syndrome is found in unique mutations in the Fibroblast Growth Factors Receptor (FGFR) 2 gene in 99%. It results in cranial suture fusion, craniofacial dysmorphologies and severe symmetrical syndactyly of the hands and feet. Patients with Apert syndrome are at risk for mental retardation, mobility impairment and intracranial hypertension (ICHT). This is the result of a complex interaction between (1) abnormal skull growth, (2) ventriculomegaly, (3) venous outflow obstruction and (4) obstructive sleep apnea (OSA). Mental retardation is mainly determined by the FGFR2 mutation and treatment is directed at protecting the intrinsic potential of neurocognition. Expert Opinion: To prevent ICHT, we prefer an occipital expansion in the first year of life. Screening on ICHT and its underlying causes is necessary at least until the age of ten by means of skull circumference measurements, fundoscopy, optical coherence tomography, MRI and polysomnography. Multicentre studies on long-term outcome are required to validate the rationale of different clinical protocols

Exometabolomics and MSI: deconstructing how cells interact to transform their small molecule environment

Metabolism is at the heart of many biotechnologies from biofuels to medical diagnostics. Metabolomic methods that provide glimpses into cellular metabolism have rapidly developed into a critical component of the biotechnological development process. Most metabolomics methods have focused on what is happening inside the cell. Equally important are the biochemical transformations of the cell, and their effect on other cells and their environment; the exometabolome. Exometabolomics is therefore gaining popularity as a robust approach for obtaining rich phenotypic data, and being used in bioprocessing and biofuel development. Mass spectrometry imaging approaches, including several nanotechnologies, provide complimentary information by localizing metabolic processes within complex biological matrices. Together, the two technologies can provide new insights into the metabolism and interactions of cells

The Production of Bioethanol Fermentation Substrate from Eucheuma cottonii Seaweed through Hydrolysis by Cellulose Enzyme

AbstractThe aim of this research was to produce high reduction sugar component of bioethanol fermentation substrate using E. cottonii seaweed. The dried E. cottonii was taken from Buton district, South East Sulawesi. The seaweed was hydrolyzed using cellulose for 24hours with various enzyme concentrations (19, 36, and 52 AU) and temperatures (40 and 50°C). The reduction sugar was analyzed by Nelson-Somogy Method then statistical significance test (t-test) was processed by using SPSS software. The results showed that the reduction sugar was 8.045mg/mL, obtained during 12hours of hydrolysis process using 36 AU cellulose at 50°C. However, this hydrolysis result was not significantly different (tested by t-test analysis) with the result shown by 19 AU cellulose enzyme hydrolysis at 50°C temperature which produce 7.937mg/mL of reduction sugar component

A state of reversible compensated ventricular dysfunction precedes pathological remodelling in response to cardiomyocyte-specific activity of angiotensin II type-1 receptor in mice

Cardiac dysfunction is commonly associated with high-blood-pressure-induced cardiomyocyte hypertrophy, in response to aberrant renin-angiotensin system (RAS) activity. Ensuing pathological remodelling promotes cardiomyocyte death and cardiac fibroblast activation, leading to cardiac fibrosis. The initiating cellular mechanisms that underlie this progressive disease are poorly understood. We previously reported a conditional mouse model in which a human angiotensin II type-I receptor transgene (HART) was expressed in differentiated cardiomyocytes after they had fully matured, but not during development. Twelve-month-old HART mice exhibited ventricular dysfunction and cardiomyocyte hypertrophy with interstitial fibrosis following full receptor stimulation, without affecting blood pressure. Here, we show that chronic HART activity in young adult mice causes ventricular dysfunction without hypertrophy, fibrosis or cardiomyocyte death. Dysfunction correlated with reduced expression of pro-hypertrophy markers and increased expression of pro-angiogenic markers in the cardiomyocytes experiencing increased receptor load. This stimulates responsive changes in closely associated non-myocyte cells, including the downregulation of pro-angiogenic genes, a dampened inflammatory response and upregulation of Tgfβ. Importantly, this state of compensated dysfunction was reversible. Furthermore, increased stimulation of the receptors on the cardiomyocytes caused a switch in the secondary response from the non-myocyte cells. Progressive cardiac remodelling was stimulated through hypertrophy and death of individual cardiomyocytes, with infiltration, proliferation and activation of fibroblast and inflammatory cells, leading to increased angiogenic and inflammatory signalling. Together, these data demonstrate that a state of pre-hypertrophic compensated dysfunction can exist in affected individuals before common markers of heart disease are detectable. The data also suggest that there is an initial response from the housekeeping cells of the heart to signals emanating from distressed neighbouring cardiomyocytes to suppress those changes most commonly associated with progressive heart disease. We suggest that the reversible nature of this state of compensated dysfunction presents an ideal window of opportunity for personalised therapeutic intervention