Middle-schoolers' misconceptions in discretized nonsymbolic proportional reasoning explain fraction biases better than their continuous reasoning: Evidence from correlation and cluster analyses.

Early emerging nonsymbolic proportional skills have been posited as a foundational ability for later fraction learning. A positive relation between nonsymbolic and symbolic proportional reasoning has been reported, as well as successful nonsymbolic training and intervention programs enhancing fraction magnitude skills. However, little is known about the mechanisms underlying this relationship. Of particular interest are nonsymbolic representations, which can be in continuous formats that may emphasize proportional relations and in discretized formats that may prompt erroneous whole-number strategies and hamper access to fraction magnitudes. We assessed the proportional comparison skills of 159 middle-school students (mean age = 12.54 years, 43% females, 55% males, 2% other or prefer not to say) across three types of representations: (a) continuous, unsegmented bars, (b) discretized, segmented bars that allowed counting strategies, and (c) symbolic fractions. Using both correlational and cluster approaches, we also examined their relations to symbolic fraction comparison ability. Within each stimulus type, we varied proportional distance, and in the discretized and symbolic stimuli, we also manipulated whole-number congruency. We found that fraction distance across all formats modulated middle-schoolers' performance; however, whole-number information affected discretized and symbolic comparison performance. Further, continuous and discretized nonsymbolic performance was related to fraction comparison ability; however, discretized skills explained variance above and beyond the contributions of continuous skills. Finally, our cluster analyses revealed three nonsymbolic comparison profiles: students who chose the bars with the largest number of segments (whole-number bias), chance-level performers, and high performers. Crucially, students with a whole-number bias profile showed this bias in their fraction skills and failed to show any symbolic distance modulation. Together, our results indicate that the relation between nonsymbolic and symbolic proportional skills may be determined by the (mis)conceptions based on discretized representations, rather than understandings of proportional magnitudes, suggesting that interventions focusing on competence with discretized representations may show dividends for fraction understanding.

Parietal and hippocampal hyper-connectivity is associated with low math achievement in adolescence - A preliminary study.

Mathematical cognition requires coordinated activity across multiple brain regions, leading to the emergence of resting-state functional connectivity as a method for studying the neural basis of differences in mathematical achievement. Hyper-connectivity of the intraparietal sulcus (IPS), a key locus of mathematical and numerical processing, has been associated with poor mathematical skills in childhood, whereas greater connectivity has been related to better performance in adulthood. No studies to date have considered its role in adolescence. Further, hippocampal connectivity can predict mathematical learning, yet no studies have considered its contributions to contemporaneous measures of math achievement. Here, we used seed-based resting-state fMRI analyses to examine IPS and hippocampal intrinsic functional connectivity relations to math achievement in a group of 31 adolescents (mean age = 16.42 years, range 15-17), whose math performance spanned the 1% to 99% percentile. After controlling for IQ, IPS connectivity was negatively related to math achievement, akin to findings in children. However, the specific temporo-occipital regions were more akin to the posterior loci implicated in adults. Hippocampal connectivity with frontal regions was also negatively correlated with concurrent math measures, which contrasts with results from learning studies. Finally, hyper-connectivity was not a global feature of low math performance, as math performance did not modulate connectivity of Heschl's gyrus, a control seed not involved in math cognition. Our results provide preliminary evidence that adolescence is a transitional stage in which patterns found in childhood and adulthood can be observed; most notably, hyper-connectivity continues to be related to low math ability into this period.

The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort.

Osteopathia striata with cranial sclerosis (OSCS; OMIM# 300373) is a rare X-linked disorder caused by mutations of the AMER1 gene. OSCS is traditionally considered a skeletal dysplasia, characterized by cranial sclerosis and longitudinal striations in the long bone metaphyses. However, OSCS affects many body systems and varies significantly in phenotypic severity between individuals. This case series focuses on the phenotypic presentation and development of individuals with OSCS. We provide an account of 12 patients with OSCS, ranging from 5 months to 38 years of age. These patients were diagnosed with OSCS after genetic testing confirmed pathogenic mutations in AMER1. Patient consent was obtained for photos and participation. Data were collected regarding perinatal history, dysmorphic features, and review of systems. This case series documents common facial dysmorphology, as well as rare extraskeletal features of OSCS, including two patients with intestinal malrotation and two patients with pyloric stenosis. We share four apparently nonmosaic males with OSCS (one de novo and three maternal variants). We also provide a clinical update on a patient who was previously published by Chénier et al. (2012). American Journal of Medical Genetics Part A, 158, 2946-2952. More research is needed to investigate the links between genotype and phenotype and assess the long-term comorbidities and overall quality of life of individuals with OSCS.

Blood pressure in adults with short stature skeletal dysplasias.

Hypertension, compounded by obesity, contributes to cardiovascular disease and mortality. Data describing hypertension prevalence in adults with short stature skeletal dysplasias are lacking, perhaps due to poor fit of typical adult blood pressure cuffs on rhizomelic or contracted upper extremities. Through health screening research, blood pressure was measured in short stature adults attending support group meetings and skeletal dysplasia clinics. Blood pressure was measured with a commercially available, narrower adult cuff on the upper and/or lower segment of the arm. Height, weight, age, gender, diagnosis, exercise, and medications were collected. Subjects were classified as normotensive, prehypertensive, or hypertensive for group analysis; no individual clinical diagnoses were made. In 403 short stature adults, 42% were hypertensive (systolic >140, diastolic >90 OR taking antihypertensive medications). For every BMI unit and 1 kg weight increase in males, there was a 9% and an 8% increase, respectively, in the odds of hypertension versus normotension. In females, the increase was 10% and 6%, respectively. In those with achondroplasia, the most common short stature dysplasia, males (n = 106) had 10% greater odds of hypertension versus normotension for every BMI unit and kilogram increase. In females with achondroplasia (n = 128), the odds of hypertension versus normotension was 8% greater for each BMI unit and 7% for each additional kilogram. These data suggest a high population prevalence of hypertension among short stature adults. Blood pressure must be monitored as part of routine medical care, and measuring at the forearm may be the only viable clinical option in rhizomelic short stature adults with elbow contractures.

Children's discrete proportional reasoning is related to inhibitory control and enhanced by priming continuous representations.

Children can successfully compare continuous proportions as early as 4 years of age, yet they struggle to compare discrete proportions at least to 10 years of age, especially when the discrete information is misleading. This study examined whether inhibitory control contributes to individual differences in discrete proportional reasoning and whether reasoning could be enhanced by priming continuous information. A total of 49 second-graders completed two tasks. In the Hearts and Flowers (H&F) task, a measure of inhibition, children pressed on either the corresponding or opposite side, depending on the identity of the displayed figure. In the Spinners task, a measure of proportional reasoning, children chose the spinner with the proportionally larger red area across continuous and two discrete formats. In the discrete adjacent format, the continuous stimuli were segmented into sections, which could be compatible with the proportional information or misleading; the discrete mixed format interspersed the colored sections from the discrete adjacent conditions. Finally, two priming groups were formed. Children who saw the continuous format immediately before the discrete adjacent format formed the continuous priming group (n = 26). Children who saw the discrete mixed format immediately before the discrete adjacent format formed the discrete priming group (n = 23). Our results showed that children who performed better on the H&F task also had better performance on the discrete counting misleading trials. Furthermore, children in the continuous priming group outperformed children in the discrete priming group, specifically in contexts where discrete information was misleading. These results suggest that children's proportional reasoning may be improved by fostering continuous representations of discrete stimuli and by enhancing inhibitory control skills.

Field Evaluation of the Effectiveness of an Oral Toltrazuril and Iron Combination (Baycox® Iron) in Maintaining Weaning Weight by Preventing Coccidiosis and Anaemia in Neonatal Piglets.

Effectiveness of an oral combination of toltrazuril and iron dextran (Baycox(®) Iron) to maintain weaning weight by preventing coccidiosis caused by Isospora suis and iron-deficiency anaemia in neonatal piglets was investigated on three commercial pig farms with a history of coccidiosis: two in Mexico and one in Brazil. On day (SD) 2 of life, piglets were randomised within litter by bodyweight to treatment or control group. On SD 3 piglets allocated to the control group (CG) each received 1 mL Baycox(®), containing 50 mg/mL toltrazuril orally and commercially available iron (200 mg/piglet) by intramuscular injection. Piglets allocated to the treatment group (TG) each received 1 mL toltrazuril and iron combination orally (Baycox(®) Iron) containing 50 mg/mL toltrazuril and 228 mg iron as iron dextran. All piglets had access to creep feed. 6493 piglets completed the study. Bodyweight at weaning on SD 21 of piglets treated with the oral toltrazuril and iron combination was confirmed to be non-inferior to the control treatment with <1 % difference between group mean body weights. Faecal samples from at least 10 % of litters on SD 14 demonstrated control of coccidiosis. Haemoglobin levels on SD 21 were lower in the oral toltrazuril and iron combination treated piglets compared to control levels but above minimum haemoglobin levels to maintain health. There was no difference in mortality between the two groups. This large scale field evaluation clearly demonstrated the effectiveness of a combination of oral toltrazuril and iron (Baycox(®) Iron) in maintaining body weight at weaning compared to conventional treatment. The combination was effective in preventing coccidiosis and anaemia and thus provides a valuable alternative that reduces stressful events in neonatal piglets. There were no product related adverse events.

Biodiesel from waste cooking oil in Mexico City.

The aim of this article is to evaluate the potential use of biodiesel produced from waste cooking oil in Mexico City. The study is divided in two main areas: the analysis of a waste cooking oil collection pilot project conducted in food markets of a Mexico City region; and the exhaust emissions performance of biodiesel blends measured in buses of the Mexico City public bus transportation network (RTP). Results from the waste cooking oil collection pilot project show that oil quantities disposed depend upon the type of food served and the operational practices in a cuisine establishment. Food markets' waste cooking oil disposal rate from fresh oil is around 10%, but with a very high standard deviation. Emission tests were conducted using the Ride-Along-Vehicle-Emissions-Measuring System in two different types of buses while travelling a regular route. Results shows that the use of biodiesel blends reduces emissions only for buses that have exhaust gas recirculation systems, as analysed by repeated measure analysis of variance. The potential use in Mexico City of waste cooking oil for biodiesel is estimated to cover 2175 buses using a B10 blend.

Burden, Outcome, and Comorbidities of Extrahepatic Manifestations in Hepatitis B Virus Infections.

Hepatitis B virus (HBV) infections affect approximately 296 million people around the world, and the prevalence of any past or present HBV infection during the years 2015-2018 was as high as 4.3%. Acute HBV infection often presents with nonspecific symptoms and is usually self-limited, but 5% of patients can have persistent infections leading to chronic HBV infection and the risk of turning into chronic HBV infection is significantly higher in babies with vertical transmission (95%). Patients with chronic HBV infection are usually asymptomatic, but 15 to 40% of chronic HBV carriers develop cirrhosis and/or hepatocellular carcinoma. In addition to liver-related disorders, HBV is also associated with several extrahepatic complications, including glomerulonephritis, cryoglobulinemia, neurologic disorders, psychological manifestations, polyarthritis, and dermatologic disorders. Making the diagnosis of HBV can be challenging since patients with chronic infections can remain symptom-free for decades before developing cirrhosis or hepatocellular carcinoma, and patients with acute HBV infection may have only mild, nonspecific symptoms. Therefore, understanding how this virus causes extrahepatic complications can help clinicians consider this possibility in patients with diverse symptom presentations. The pathophysiology of these extrahepatic disorders likely involves immune-related tissue injury following immune complex formation and inflammatory cascades. In some cases, direct viral infection of extrahepatic tissue may cause a clinical syndrome. Currently, the American Association for the Study of Liver Diseases recommends treatment of chronic HBV infections with interferon therapy and/or nucleos(t)ide analogs, and this treatment has been reported to improve some extrahepatic disorders in some patients with chronic HBV infection. These extrahepatic complications have a significant role in disease outcomes and increase medical costs, morbidity, and mortality. Therefore, understanding the frequency and pathogenesis of these extrahepatic complications provides important information for both specialists and nonspecialists and may help clinicians identify patients at an earlier stage of their infection.

Adults systematically underestimate decimals and whole number exposure induces further magnitude-based underestimation.

Decimal numbers are generally assumed to be a straightforward extension of the base-ten system for whole numbers given their shared place value structure. However, in decimal notation, unlike whole numbers, the same magnitude can be expressed in multiple ways (e.g., 0.8, 0.80, 0.800, etc.). Here, we used a number line task with carefully selected stimuli to investigate how equivalent decimals (e.g., 0.8 and 0.80 on a 0-1 number line) and proportionally equivalent whole numbers (e.g., 80 on a 0-100 number line) are estimated. We find that young adults (n = 88, Mage = 20.22 years, SD = 1.65, 57 female) have a linear response pattern for both decimals and whole numbers, but those double-digit decimals (e.g., 0.08, 0.82, 0.80) are systematically underestimated relative to proportionally equivalent whole numbers (e.g., 8, 82, 80). Moreover, decimal string length worsens the underestimation, such that single-digit decimals (e.g., 0.8) are perceived as smaller than their equivalent double-digit decimals (e.g., 0.80). Finally, we find that exposing participants to whole number stimuli before decimal stimuli induces magnitude-based underestimation, that is, greater underestimation for larger decimals. Together, these results suggest a small but persistent underestimation bias for decimals less than one, and further that decimal magnitude estimation is fragile and subject to greater underestimation when exposed to whole numbers. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Preliminary Evidence for a Positive Relation Between the COMT rs4680 Met/Met Genotype and Math Achievement.

To identify if COMT polymorphisms interact with executive functions as predictors of math skills, we assessed 38 adolescents (mean age = 16.4 ± 0.80 years, IQ > 80) from a larger study of high-school students screened for their mathematical abilities. Adolescents were genotyped for the COMT Val158Met polymorphism (grouped as Met/Met or Val-carriers) and completed the WRAT math achievement test, working-memory, inhibitory-control, and shifting tasks. Met/Met-carriers achieved higher WRAT scores than the Val-carriers (W = 229, p = .009). Genotype group was a moderate-to-strong predictor of WRAT scores (ß = 0.56 to 0.74). No genotype/executive-function interaction was detected. Our findings suggest that the rs4680 Met/Met genotype is positively associated with math achievement.

Competing numerical magnitude codes in decimal comparison: Whole number and rational number distance both impact performance.

A critical difference between decimal and whole numbers is that among whole numbers the number of digits provides reliable information about the size of the number, e.g., double-digit numbers are larger than single-digit numbers. However, for decimals, fewer digits can sometimes denote a larger number (i.e., 0.8 > 0.27). Accordingly, children and adults perform worse when comparing such Inconsistent decimal pairs relative to Consistent pairs, where the larger number also has more digits (i.e., 0.87 > 0.2). Two explanations have been posited for this effect. The string length congruity account proposes that participants compare each position in the place value system, and they additionally compare the number of digits. The semantic interference account suggests that participants additionally activate the whole number referents of numbers - the numbers unadorned with decimal points (e.g., 8 < 27) - and compare these. The semantic interference account uniquely predicts that for Inconsistent problems with the same actual rational distance, those with larger whole number distances should be harder, e.g., 0.9 vs. 0.81 should be harder than 0.3 vs. 0.21 because 9 < < 81 whereas 3 < 21. Here we test this prediction in two experiments with college students (Study 1: n = 58 participants, Study 2: n = 78). Across both, we find a main effect of consistency, demonstrating string length effects, and also that whole number distance interferes with processing conflicting decimals, demonstrating semantic interference effects. Evidence for both effects supports the semantic interference account, highlighting that decimal comparison difficulties arise from multiple competing numerical codes. Finally, for accuracy we found no relationship between whole number distance sensitivity and math achievement, indicating that whole number magnitude interference affects participants similarly across the spectrum of math achievement.

Digestive enzymatic activity on tropical gar (Atractosteus tropicus) larvae fed different diets.

Digestive enzymatic activity and growth performance on tropical gar (Atractosteus tropicus) larvae fed Artemia nauplii (LF), frozen adult Artemia (AB), an artificial diet (AF) with 46% protein and 16% lipids and a starvation group (SG) from first feeding (5 days after hatching-5 DAH) to 34 DAH were studied. All larvae under starvation (SG) died at 15 DAH. By the end of the experimental period, morphological variables (total length, wet weight and specific growth rate) were significant in larvae fed AF compared to LF and AB. All enzymes studied in the experiment were present since the start of exogenous feeding (including pepsin) and the enzymatic activity varied with the diets. Low levels of enzymatic activity were observed until the 29 DAH; however, after this moment, there was a significant increase (eightfold), particularly for the AF treatment. In vitro protein digestibility tests performed with enzymatic extracts showed that artificial diets with 52% protein and 14% lipids were better digested by larvae before 30 DAH, while diets with 45% protein and 11% lipids were better digested after this age. Taking into account the better growth performance, higher enzymatic activity and better protein digestibility obtained, artificial diets can be used since the start of exogenous feeding on tropical gar larvae, as in other lepisosteids.

Maternal education revisited: Vocabulary growth in English and Spanish from 16 to 30 months of age.

This paper reports on a cross-language longitudinal study in which we extend previous research on the effects of maternal education on vocabulary growth in Spanish- and English-dominant children at three time points: 16 months, 22 months, and 30 months of age. This study addresses recent conflicting evidence regarding the role of maternal education in children's acquisition of Spanish. Participants were 62 English-dominant children, 47 Spanish-dominant children, and their mothers. Growth curve models were constructed separately for English and Spanish vocabulary. Strong growth rate reliability and effect sizes were evinced for vocabulary across samples. As expected, in English-dominant children, maternal education predicted English vocabulary and growth from 16 to 30 months of age. However, in Spanish-dominant children, there was no significant effect of maternal education on vocabulary or growth, although there was a descriptive advantage for children of college-educated mothers at 30 months of age. In conjunction with prior evidence, we conclude that the effect of maternal education on maternal input and child vocabulary does not generalize readily to children whose first language is Spanish. Our findings contribute to a literature that suggests that focusing on maternal beliefs, input, and the home literacy environment are more fruitful approaches in the study of children learning Spanish in the U.S. Further, the importance of maternal beliefs highlights the need to support parent investment in the quantity and quality of input in the home language.

Automated signal classification in the C-2W fusion experiment.

In TAE Technologies' current experimental fusion device, C-2W (also called "Norman"), record breaking, advanced beam-driven field-reversed configuration plasmas are produced and sustained in steady state utilizing variable-energy neutral beams, expander divertors, end-bias electrodes, and an active plasma control system. With a rapid shot-pace and an extensive number of data channels, the amount of data generated necessitates automated signal processing. To this end, a machine learning algorithm consisting of a multi-layered neural network as well as other data processing software has been designed for signal feature identification, allowing for accurate and fast signal classification, anomalous condition detection, and providing for signal pre-processing. With a small set of training data, the neural network can be "bootstrapped" to provide a robust classification system while minimizing human oversight. An example using data from the theta pinch plasma formation pulsed power system is presented. With an overall accuracy of ∼97%-having classified more than 5 × 106 pulsed power signals-the classification scheme is more than sufficient to fine-tune machine set points. However, this technique can be used for near-real-time preprocessing of any plasma physics signal and has wide ranging application in fusion experiments for the varied data produced by plasma diagnostics.

From Non-symbolic to Symbolic Proportions and Back: A Cuisenaire Rod Proportional Reasoning Intervention Enhances Continuous Proportional Reasoning Skills.

The persistent educational challenges that fractions pose call for developing novel instructional methods to better prepare students for fraction learning. Here, we examined the effects of a 24-session, Cuisenaire rod intervention on a building block for symbolic fraction knowledge, continuous and discrete non-symbolic proportional reasoning, in children who have yet to receive fraction instruction. Participants were 34 second-graders who attended the intervention (intervention group) and 15 children who did not participate in any sessions (control group). As attendance at the intervention sessions was irregular (median = 15.6 sessions, range = 1-24), we specifically examined the effect of the number of sessions completed on their non-symbolic proportional reasoning. Our results showed that children who attended a larger number of sessions increased their ability to compare non-symbolic continuous proportions. However, contrary to our expectations, they also decreased their ability to compare misleading discretized proportions. In contrast, children in the Control group did not show any change in their performance. These results provide further evidence on the malleability of non-symbolic continuous proportional reasoning and highlight the rigidity of counting knowledge interference on discrete proportional reasoning.

Linking inhibitory control to math achievement via comparison of conflicting decimal numbers.

The relationship between executive functions (EF) and academic achievement is well-established, but leveraging this insight to improve educational outcomes remains elusive. Here, we propose a framework for relating the role of specific EF on specific precursor skills that support later academic learning. Starting from the premise that executive functions contribute to general math skills both directly - supporting the execution of problem solving strategies - and indirectly - supporting the acquisition of precursor mathematical content, we hypothesize that the contribution of domain-general EF capacities to precursor skills that support later learning can help explain relations between EF and overall math skills. We test this hypothesis by examining whether the contribution of inhibitory control on general math knowledge can be explained by inhibition's contribution to processing rational number pairs that conflict with individual's prior whole number knowledge. In 97 college students (79 female, age = 20.58 years), we collected three measures of EF: working memory (backwards spatial span), inhibition (color-word Stroop) and cognitive flexibility (task switching), and timed and untimed standardized measures of math achievement. Our target precursor skill was a decimals comparison task where correct responses were inconsistent with prior whole number knowledge (e.g., 0.27 vs. 0.9). Participants performed worse on these trials relative to the consistent decimals pairs (e.g., 0.2 vs. 0.87). Individual differences in the Stroop task predicted performance on inconsistent decimal comparisons, which in turn predicted general math achievement. With respect to relating inhibitory control to math achievement, Stroop performance was an independent predictor of achievement after accounting for age, working memory and cognitive flexibility, but decimal performance mediated this relationship. Finally, we found inconsistent decimals performance mediated the relationship of inhibition with rational number performance, but not other advanced mathematical concepts. These results pinpoint the specific contribution of inhibitory control to rational number understanding, and more broadly are consistent with the hypothesis that acquisition of foundational mathematical content can explain the relationships between executive functions and academic outcomes, making them promising targets for intervention.

Joint position statement on management of patient with osteoporosis during COVID-19 contingency from the AMMOM, CONAMEGER, FELAEN, FEMECOG, FEMECOT, and ICAAFYD.

Infection by SARS-Cov-2 (COVID-19) has affected practically all the world. This joint position statement of Latin American Medical Societies provides an updated guide for the prevention, diagnosis, and treatment of osteoporotic patients in the face of possible clinical scenarios posed by the COVID-19 health crisis. BACKGROUND: Infection by SARS-Cov-2 (COVID-19) has affected practically all the world. Characterized by high contagiousness, significative morbidity, and mortality in a segment of those infected, it has overwhelmed health services and forced to redirect resources to the emergency while impacting the attention of acute non-COVID-19 and many chronic conditions. OBJECTIVE: The objective of this study is to provide an updated guide for the prevention, diagnosis, and treatment of osteoporotic patients in the face of possible clinical scenarios posed by the COVID-19 health crisis. METHODS: A task force, of bone specialists with a wide range of disciplines in the field of osteoporosis and fragility fracture, was convened with the representation of several professional associations, namely, the Mexican Association of Bone and Mineral Metabolism (AMMOM), the National College of Geriatric Medicine (CONAMEGER), the Latin American Federation of Endocrinology (FELAEN), the Mexican Federation of Colleges of Obstetrics and Gynecology (FEMECOG), the Mexican Federation of Colleges of Orthopedics and Traumatology (FEMECOT), and the Institute of Applied Sciences for Physical Activity and Sports of the University of Guadalajara (ICAAFYD). Clinical evidence was collated, and an evidence report was rapidly generated and disseminated. After finding the gaps in the available evidence, a consensus opinion of experts was made. The resulting draft was reviewed and modified accordingly, in 4 rounds, by the participants. RESULTS: The task force approved the initial guidance statements, with moderate and high consensus. These were combined, resulting in the final guidance statements on the (1) evaluation of fracture risk; (2) stratification of risk priorities; (3) indications of bone density scans and lab tests; (4) initiation and continuation of pharmacologic therapy; (5) interruptions of therapy; (6) treatment of patients with incident fracture; (7) physical therapy and fall prevention; and (8) nutritional interventions. CONCLUSION: These guidance statements are provided to promote optimal care to patients at risk for osteoporosis and fracture, during the current COVID-19 pandemic. However, given the low level of available evidence and the rapidly evolving literature, this guidance is presented as a "living document" and future updates are anticipated.

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome.

Persistent hyperphosphatasia associated with developmental delay and seizures was described in a single family by Mabry et al. 1970 (OMIM 239300), but the nosology of this condition has remained uncertain ever since. We report on five new patients (two siblings, one offspring of consanguineous parents, and two sporadic patients) that help delineate this distinctive disorder and provide evidence in favor of autosomal recessive inheritance. Common to all five new patients is facial dysmorphism, namely hypertelorism, a broad nasal bridge and a tented mouth. All patients have some degree of brachytelephalangy but the phalangeal shortening varies in position and degree. In all, there is a persistent elevation of alkaline phosphatase activity without any evidence for active bone or liver disease. The degree of hyperphosphatasia varies considerably ( approximately 1.3-20 times the upper age-adjusted reference limit) between patients, but is relatively constant over time. In the first family described by Mabry et al. 1970, at least one member was found to have intracellular inclusions on biopsy of some but not all tissues. This was confirmed in three of our patients, but the inclusions are not always observed and the intracellular storage material has not been identified.

Clinical utility of genomic sequencing: a measurement toolkit.

Whole-genome sequencing (WGS) is positioned to become one of the most robust strategies for achieving timely diagnosis of rare genomic diseases. Despite its favorable diagnostic performance compared to conventional testing strategies, routine use and reimbursement of WGS are hampered by inconsistencies in the definition and measurement of clinical utility. For example, what constitutes clinical utility for WGS varies by stakeholder's perspective (physicians, patients, families, insurance companies, health-care organizations, and society), clinical context (prenatal, pediatric, critical care, adult medicine), and test purpose (diagnosis, screening, treatment selection). A rapidly evolving technology landscape and challenges associated with robust comparative study design in the context of rare disease further impede progress in this area of empiric research. To address this challenge, an expert working group of the Medical Genome Initiative was formed. Following a consensus-based process, we align with a broad definition of clinical utility and propose a conceptually-grounded and empirically-guided measurement toolkit focused on four domains of utility: diagnostic thinking efficacy, therapeutic efficacy, patient outcome efficacy, and societal efficacy. For each domain of utility, we offer specific indicators and measurement strategies. While we focus on diagnostic applications of WGS for rare germline diseases, this toolkit offers a flexible framework for best practices around measuring clinical utility for a range of WGS applications. While we expect this toolkit to evolve over time, it provides a resource for laboratories, clinicians, and researchers looking to characterize the value of WGS beyond the laboratory.

Dietary Protein Intake Patterns and Inadequate Protein Intake in Older Adults from Four Countries.

Recent interest in protein intake per meal is observed in studies that have reported the protein intake patterns in different countries; however, comparisons of these data are lacking. We aimed to compare protein intake patterns and the percentage of inadequate protein intake (IPI) per day and meal in older adults from different countries. We acquired data of protein intake in older adults from four countries (Mexico, United States of America, Germany, and United Kingdom). We compared protein intake (per day and meal), IPI per day and meal, and the number of meals with an adequate protein content among countries. The IPI per day significantly differed among countries for <0.8 and <1.0 (both p < 0.001), but not for <1.2 g/kg/d (p = 0.135). IPI per meal (<30 g/meal) did not differ among countries at breakfast (p = 0.287) and lunch (p = 0.076) but did differ at dinner (p < 0.001). Conversely, IPI per meal (<0.4 g/kg/meal) significantly differed among countries at breakfast, lunch, and dinner (all p < 0.001). The percentage of participants that ate ≥30 g/meal or ≥0.4 g/kg/meal at zero, one, and two or three meals per day significantly differed among countries (all p < 0.05). IPI at breakfast and lunch (<30 g/meal) was a common trait in the analyzed samples and might represent an opportunity for nutritional interventions in older adults in different countries.