Growth Anomalies Research Articles

Assessment of coral diseases in the shallow reefs of Aka-jima Marine Reserve (AMR), with a brief geographic perspective of disease occurrence throughout the larger Kerama-Shoto Marine National Park (KMNP), Okinawa, Japan

This study reports on the observation of coral diseases within the shallow/intertidal water habitat of the Akajima Marine Reserve (AMR), located within the Keramashoto Marine National Park (KMNP) of Japan. Major coral genera and species assessed during the survey included Montipora spp., Porites spp., Isopora palifera, Acropora spp., as well as other. Observed diseases and health conditions included Black Band Disease (BBD) in Montipora as well as in Goniopora, Skeletal Growth Anomalies (GAs) in Acropora, Montipora, Porites, Isopora and Astreopora, Terpios hoshinota covering Acropora, Montipora and Seriatopora, as well as bleaching, discoloration, and other compromised health signs. This field study recorded the presence of GAs in the genus Leptastrea for the first time within the Japanese Archipelago. The novelty in this study is reporting unreported genera to be infested with certain disease conditions, further this study demonstrates how surveys in previously poorly studied areas or habitats can reveal important information pertaining to coral diseases, thus helping to fill existing knowledge gaps. Another important aspect of this study is, we provide a review of the distribution of coral diseases within the KMNP based on our results and previous reports. Being a rapid survey, the dynamics of these diseases were not assessed, while the major cause(s) of the diseases remains to be identified. In general, climate change-related aspects including rises in sea surface temperatures, as well as other factors such as host density may be responsible for disease prevalences in the region.

Microbial Communities and their Functional Role Associated with the Localised Outbreak of Coral Growth Anomalies in Eastern Arabian Sea

Microbial Communities and their Functional Role Associated with the Localised Outbreak of Coral Growth Anomalies in Eastern Arabian Sea

Anthropometric indices growth references (length, Weight and Head Circumferences) of children aged 0–24 months in North-East of Iran by GAMLSS

BackgroundGrowth references play a crucial role in the screening, evaluation, and surveillance of children, aiding in the early identification of the requirement for diverse growth-promoting interventions. Variations in human growth across distinct ethnic cohorts arise from genetic disparities, lifestyle variances, nutritional diversity, and diverse social and environmental contexts. Consequently, the selection of growth references markedly influences the prevalence of developmental disorders and nutritional imbalances in children. The study aims to assess the growth percentile of children in the north-east of Iran and establish population-specific reference charts for length, weight, and head circumference spanning from birth to 24 months.MethodsThis cross-sectional population-based research conducted in the north-east of Iran, from 2016 to 2023. The Data extracted from the electronic health records of Mashhad University of Medical Sciences. All apparently healthy children aged from birth to 24 months who were measured at least once by health staff at the ages of birth,1,2,4,6,7,9,12,15,18,24 months were included. The target population of the study were 479,089 children (96.21%), encompassing 233,565 girls (48.75%) and 245,524 boys (51.25%). Gender-specific percentile curves for length, weight, and head circumference concerning age, as well as weight concerning length, were derived using the GAMLSS approach.ResultsFrom the anthropometric information of 479,089 children (245,524 boys and 233,565 girls), growth charts were constructed. In comparison to the standard WHO chart, Iranian neonates displayed lower weight across all percentiles during the first month after birth, exhibited decreased head circumference at the 3rd percentile, and boys showed reduced length across all percentiles. After this age, Iranian children demonstrated increased weight, length, and head circumference.ConclusionsThis research introduces the inaugural large-scale endeavor for indigenous reference charts. Through the noted distinctions from the international reference, the utilization of this novel resource offers the potential to enhance the surveillance of children’s growth within the area. Moreover, by accurately assessing growth anomalies such as underweight, stunting, and wasting, it expands the domain of impactful policies in this sphere. Simultaneously, it enables the exploration of the secular trend of children’s growth in the forthcoming years.

Defect formation and growth in metal nanocomposites consisting of Cu nanoparticles embedded in Ni or Al coatings

Fully inorganic or metallic nanocomposite coatings are promising materials for various applications but face limitations in term of their synthesis. A complementary synthesis process, Physical Vapor Deposition combined with magnetron sputtering and plasma-assisted gas-phase aggregation produced Cu nanoparticles embedded in metallic matrix. In this study, the effect of embedded nanoparticles on the matrix structure was investigated. Al and Ni were selected as matrix materials due to their different sputter yields leading to different growth modes film morphologies and difference in surface energy. Depending on the nanocomposite and deposition conditions, defects such as nodular growth were occasionally observed. These growth anomalies originated from the presence of nanoparticles creating new nucleation points for the matrix to grow disturbing the grain growth around it. Key factors responsible for their formation include the surface energy difference between the NPs and the matrix and the geometrical disruption occurring for large NP. In extreme cases with a high concentration of nanoparticles, coatings entirely constituted of nodular defects were produced which can be advantageous for applications needing large specific surface area.

Predicting the elastic properties of Norway spruce by its morphology

Models for the elastic material properties of wood aim to predict the mechanical response of wooden structures to external loading. Traditionally, the variability of these properties in trees is described by a taxonomy of growth defects that is typically based on visual indicators in the material. This includes curvature, knots, and spiral grain models. Existing meso- and macro-scale models fail to describe the uncertainty connected to the local heterogeneity of the material. In this paper, we propose a novel meso-scale model that describes the natural variability of Norway spruce morphology and material properties based on random field theory. Our approach removes the need for a taxonomy of growth defects and enables uncertainty quantification of the stiffness and density in a straightforward fashion using simulations. This may enhance confidence for stiffness-graded applications, where the dynamic resonant behavior of wood structures is relevant and growth anomalies are present. Further, our stochastic models can generate images that realistically mimic wood patterns, which is relevant for applications like synthetic wood panels and flooring.

Association between risk of infant death and birth-weight z scores according to gestational age: A nationwide study using the Finnish Medical Birth Register.

To investigate the association between infant mortality and birth weight using estimated fetal weight (EFW) versus birth-weight charts, by gestational age (GA). This nationwide population-based study used data from the Finnish Medical Birth Register from 2006 to 2016 on non-malformed singleton live births at 24-41+6 weeks of gestation (N = 563 630). The outcome was death in the first year of life. Mortality risks by birth-weight z score, defined as a continuous variable using Maršál's EFW and Sankilampi's birth-weight charts, were assessed using generalized additive models by GA (24-27+6, 28-31+6, 32-36+6, 37-38+6, 39-41+6 weeks). We calculated z score thresholds associated with a two- and three-fold increased risk of infant death compared with newborns with a birth weight between 0 and 0.675 standard deviations. The z score thresholds (with corresponding centiles in parentheses) associated with a two-fold increase in infant mortality were: -3.43 (<0.1) at 24-27+6 weeks, -3.46 (<0.1) at 28-31+6 weeks, -1.29 (9.9) at 32-36+6 weeks, -1.18 (11.9) at 37-38+6 weeks, and - 1.34 (9.0) at 39-41+6 weeks according to the EFW chart. These values were - 2.43 (0.8), -2.62 (0.4), -1.34 (9.0), -1.37 (8.5), and - 1.43 (7.6) according to the birth-weight chart. The association between birth weight and infant mortality varies by GA whichever chart is used, suggesting that different thresholds for the screening of growth anomalies could be used across GA to identify high-risk newborns.

High protein intake on later outcomes in preterm children: a systematic review and meta-analysis

Abstract Background Appropriate protein intake is crucial for growth and development in children born preterm. We assessed the effects of high (HP) versus low protein (LP) intake on neurodevelopment, growth, and biochemical anomalies in these children. Methods Randomised and quasi-randomised trials providing protein to children born preterm (&lt;37 completed weeks of gestation) were searched following PRISMA guideline in three databases and four registers (PROSPERO registration CRD42022325659). Random-effects model was used for assessing the effects of HP (≥3.5 g/kg/d) vs. LP (&lt;3.5 g/kg/d). Results Data from forty-four studies (n = 5338) showed HP might slightly reduce the chance of survival without neurodisability at ≥12 months (four studies, 1109 children, relative risk [RR] 0.95 [95% CI 0.90, 1.01]; P = 0.13; low certainty evidence) and might increase risk of cognitive impairment at toddler age (two studies; 436 children; RR 1.36 [0.89, 2.09]; P = 0.16; low certainty evidence). At discharge or 36 weeks, HP intake might result in higher weight and greater head circumference z-scores. HP intake probably increased the risk of hypophosphatemia, hypercalcemia, refeeding syndrome and high blood urea, but reduced risk of hyperglycaemia. Conclusions HP intake for children born preterm may be harmful for neonatal metabolism and later neurodisability and has few short-term benefits for growth. Impact statement Planned high protein intake after birth for infants born preterm might be harmful for survival, neurodisability and metabolism during infancy and did not improve growth after the neonatal period. Protein intake ≥3.5 g/kg/d should not be recommended for children born preterm.

Integrating Dendrogeomorphology into Stress–Strain Numerical Models: An Opportunity to Monitor Slope Dynamic

Monitoring systems are recognized worldwide as fundamental tools for landslide risk management. However, monitoring can be difficult when dealing with large slopes in forested areas. In these situations, dendrogeomorphology can offer a low-cost and low-impact alternative for providing distributed information with an annual temporal resolution. The present study is a first attempt to integrate dendrometric and dendrogeomorphic data into a numerical finite difference model, in order to simulate the stress–strain behavior of the tree-slope system. By using a parametrical approach, the capability of the numerical model to effectively reproduce the tree stem anomalies (i.e., tilting angle, J-shaped feature, and internal stresses causing tree-ring growth anomalies such as eccentric growth and reaction wood) was verified, and the target parameters for the model calibration were identified based on a sensitivity analysis, which emphasized the relevance of the wood deformability; moreover, the interpretation of results allowed to point out different peculiarities (in terms of type of deformation, falling direction, and distribution of internal stresses) for different slope conditions (kinematics and depth of the failure surface) and different zones of the landslide (head scarp, main body, and toe). Afterwards, the modeling approach was applied to the Val Roncaglia landslide (Northen Italy), which involves a complex roto-translational kinematics, characterized by multiple sliding surfaces. The simulated stem anomalies showed good agreement with the ones arising from onsite dendrometric surveys, and they confirmed the conceptual model of the landslide, enabling the planning of further specific investigations. Moreover, the capability of the model in reproducing the tilting angle of trees, if correlated to their eccentricity, could provide a quite long time series (over more than 50–60 years) of the landslide reactivation and allow the use of dendrochronological data for the model calibration, thereby enhancing slope dynamic monitoring and landslide risk management.

A blend of microalgae and cyanobacteria produced from industrial waste outputs for the enrichments of Artemia salina: Effects on growth performance, antioxidant status and anomalies rate of European seabass (Dicentrarchus labrax) larvae

The recent fast development of the microalgae-related biotechnologies has enabled the availability of sustainable and nutrients-rich raw materials to be used as substitution of conventional sources in aquafeed formulation. However the cost of energy of the photobioreactors used to produce these microorganisms still constrained their wider inclusion into aquafeed compounds. By exploiting industrial waste outputs, Nannochloropsis sp. and Spirulina sp. were produced and utilised to formulate two experimental enrichments (LM1 and LM2). During a 60 days trial, their efficacy have been tested as Artemia metanauplii enrichments in the diet of European seabass (Dicentrarchus labrax) larvae, in comparison to a commercial control. Larvae were fed with isonitrogenous and isolipidic dietary treatments. Each dietary treatment presented a specific profile for the long chain polyunsaturated fatty acids ARA, DHA and EPA. Ratio of DHA/EPA in enriched Artemia of 4:1 as in the case of LM1 and LM2 in the presence of 1.4% of ARA (as a % on total fatty acid) guaranteed equal results to the control which displayed a ratio of DHA/EPA of 2:1 with 2.2% of ARA. No significant effects of the dietary treatments were detected in final survival, growth performance and incidence of skeletal anomalies. Regarding oxidative status, larvae fed with LM2 enrichment presented lower catalase activity than control larvae with no signs of oxidative damage, suggesting a potential antioxidant effect of LM2. The present study contributes to expanding the existing literature on successful utilisation of microalgae and cyanobacteria, used to produce valuable nutrients, in a perspective of circular nutrients economy.

Multi-Factor Coral Disease Risk: A new product for early warning and management.

Ecological forecasts are becoming increasingly valuable tools for conservation and management. However, there are few examples of near-real-time forecasting systems that account for the wide range of ecological complexities. We developed a new coral disease ecological forecasting system that explores a suite of ecological relationships and their uncertainty and investigates how forecast skill changes with shorter lead times. The Multi-Factor Coral Disease Risk product introduced here uses a combination of ecological and marine environmental conditions to predict the risk of white syndromes and growth anomalies across reefs in the central and western Pacific and along the east coast of Australia and is available through the US National Oceanic and Atmospheric Administration Coral Reef Watch program. This product produces weekly forecasts for a moving window of 6 months at a resolution of ~5 km based on quantile regression forests. The forecasts show superior skill at predicting disease risk on withheld survey data from 2012 to 2020 compared with predecessor forecast systems, with the biggest improvements shown for predicting disease risk at mid- to high-disease levels. Most of the prediction uncertainty arises from model uncertainty, so prediction accuracy and precision do not improve substantially with shorter lead times. This result arises because many predictor variables cannot be accurately forecasted, which is a common challenge across ecosystems. Weekly forecasts and scenarios can be explored through an online decision support tool and data explorer, co-developed with end-user groups to improve use and understanding of ecological forecasts. The models provide near-real-time disease risk assessments and allow users to refine predictions and assess intervention scenarios. This work advances the field of ecological forecasting with real-world complexities and, in doing so, better supports near-term decision making for coral reef ecosystem managers and stakeholders. Secondarily, we identify clear needs and provide recommendations to further enhance our ability to forecast coral disease risk.

Growth Response of Thai Pine (Pinus latteri) to Climate Drivers in Tak Province of Northwestern Thailand

The long-term effects of climate change and climate extremes have been associated with changes in tree growth and forest productivity worldwide, and dendrochronological analyses are important tools that can be used to investigate the influence of climatic forces on tree growth at a particular site. In this study, a 180-year tree ring width chronology (spanning from 1843 to 2022) of living pine trees (Pinus latteri) in Tak province, northwestern Thailand, was developed. The analysis of the climate–tree growth relationship indicated the influences of the annual total rainfall (r = 0.60, p &lt; 0.001) and annual averaged relative humidity (r = 0.47, p &lt; 0.001) on tree growth in this area. Anomalously high (for example, in 1853, 1984, 2011, and 2018) and low growths (for example, in 1954, 1983, 1992, and 1996) were found. Growth anomalies in the Thai pine in this study were related to changes in abnormal and extreme rainfall (r = 0.94, p &lt; 0.001) and the El Niño Southern Oscillation (ENSO). Our results confirm that rainfall and relative humidity are the main climatic factors regulating the radial growth of Thai pine. This finding could be an important contribution to further research on the effects of climate change and extreme weather events on the vulnerability of tropical and subtropical trees in this region.

Variable prevalence of diseases and compromised health conditions on hard corals around Mauritius Island, Western Indian Ocean

Although coral diseases and compromised health conditions (CHCs) are one of the most prominent threats to coral reefs globally, they have yet to be thoroughly investigated in the Western Indian Ocean. This study aimed to assess the prevalence and spatial distribution of coral diseases and CHCs around Mauritius. Six coral diseases [Growth Anomaly (GA), Skeletal Eroding Band (SEB), Brown Band (BrBD), Porites White Patch Syndrome (PWPS), White Syndromes (WSs), and Yellow Band (YB)] and four CHCs [Pink Patches (PP), Pink Spots (PS), Pink Line Syndrome (PLS), and Focal Bleaching (FB)] were spatially variable in prevalence among the 17 studied sites. The average prevalence for Mauritius was 4.88% (SD 0.52%), almost half of what has been documented from Caribbean and Pacific reefs (about 10%). Total coral colony density (R = −0.585, P &lt; 0.001) and diseases/CHCs-affected host density (R = −0.249, P &gt; 0.05) were negatively correlated while human population density (R = 0.085, P &lt; 0.05) and coral cover (R = 0.045, P &lt; 0.05) were positively correlated with coral diseases/CHCs prevalence. The prevalence of diseases/CHCs significantly differed between the reef-flat and fore-reef zones, with the latter exhibiting higher prevalence. Cluster analyses revealed that PLS, YB, and FB were mostly distributed in the fore-reef zone, while the other diseases/CHCs were mostly predominant on the reef-flats. However, coral disease/CHCs prevalence did not differ significantly (F = 2.613, P &gt; 0.05) between protected and nonprotected zones. These findings have important implications for informing appropriate coral reef conservation and management strategies for Mauritius.

A novel STAG1 variant associated with congenital clubfoot and microphthalmia: A case report

The cohesin protein complex plays a vital role in various cellular processes such as sister chromatid cohesion, chromosome condensation, DNA repair, and transcriptional regulation. It is constituted by SMC1, SMC3, RAD21, STAG1/STAG2 subunits, and several regulatory proteins. Pathogenic variants in these components cause cohesinopathies, with common clinical features including facial dysmorphism, delayed growth, developmental delay, and limb anomalies. Pathogenic variants in the STAG1 contribute to an emerging syndromic developmental disorder with only 21 reported cases in the literature. We describe a 3-year-old girl presenting with congenital bilateral clubfoot and unilateral microphthalmia—clinical manifestations not previously reported in the literature. Whole exome sequencing revealed a novel de novo nonsense variant (c.1183C&gt;T, p.(Arg395*)) in the STAG1, expanding the clinical and molecular spectrum of STAG1-related cohesinopathy. This patient’s unique phenotype highlights the clinical diversity within cohesinopathies, emphasizing their relevance in cases of developmental delay and dysmorphic features. Further studies, including genotype–phenotype correlation analyses and functional investigations, are essential for enhancing our understanding of STAG1-related cohesinopathy.

Linear and Nonlinear Mixed Models to Determine the Growth Curves of Weaned Piglets and the Effect of Sex on Growth

This study characterizes the growth of weaned Large White × Landrace hybrid piglets from 6 to 20 kg live body weight (BW) under real farm conditions. Batches of 50 castrated male pigs and 50 gilts were weighed repeatedly over two 6-week breeding cycles. The data was fitted to various linear (quadratic and exponential) and nonlinear (Gompertz, Richards, logistic, Von-Bertalanffy) mixed models to find the best-performing model. During the postweaning phase, animal growth was modelled, and the effect of sex on growth was determined by incorporating the variable, sex, into the mixed models and using t-tests for paired samples. The average BW at weaning was 6.86 kg, and the average BW by the end of the cycle was 19.46 kg, with an average daily gain (ADG) of 0.324 kg/day. Over the study period, the variable, sex, did not show a significant effect (p &lt; 0.05) on piglet growth. The nonlinear mixed models performed better than the linear mixed models, with the Gompertz (RMSE = 0.296) and Von-Bertalanffy (RMSE = 0.288) curves as the best-performing models. When fitted to the Gompertz curve, the data showed a maximum ADG of 0.508 kg/day on day 27 postweaning. Accordingly, nonlinear mixed models can provide useful information to farmers about the evolution of weaned piglet growth and can be used for the early detection of growth anomalies.

Widespread Occurrence of Coral Growth Anomalies in the Republic of Maldives

In the last decades, there has been a concerning increase in the frequency and severity of coral disease outbreaks on a global scale, resulting in significant damage to the coral reef ecosystem and biodiversity. Growth anomalies (GAs) have been increasingly observed, with significantly higher occurrences in larger and older coral colonies compared to their smaller counterparts. However, there is a notable lack of knowledge and reports regarding growth anomalies in the Maldivian region. Here, we provide the first evidence of four distinct growth anomalies on three coral species, respectively on Acropora sp., Montipora sp., and Pachyseris speciosa, observed across four different locations across three atolls within the Maldivian Archipelago.

Orman ağaçlarında görülen büyüme anormalileri ve faydalanma imkânları: (Bursa Orman Bölge Müdürlüğü örneği)

Odun üretimi ve ormanların bakımı, sürdürülebilirlik ve silvikültürel ihtiyaçlar dikkate alınarak, yapılmaktadır. Kaliteli tomruk üretimi için ise idare süresi sonuna kadar bu amaca yönelik müdahaleler yapılmaktadır. Bu amaç dışında kalan anormal oluşumlar ve büyüme şekilleri bakımlar esnasında elimine edilmekte ve doğal şekilleriyle sanayiye ulaşamamaktadır. Oysa mobilya sanayisinde ekonomik değeri oldukça yüksek birçok mobilya ve dekoratif eşya, anormal büyümeler gösteren ağaçlardan elde edilebilmektedir. Bu çalışmanın amacı, ormanlarımızdaki bazı ağaç türlerinde meydana gelen anormal oluşumları belirlemek, bu tür ağaç malzeme işleyen sektörü inceleyerek ekonomiye sağlayacağı katkıyı ortaya koymak ve farkındalık oluşturmaktır. Bu amaçla Bursa ve İnegöl Orman İşletme Müdürlükleri ve Uludağ Milli Parkında yapılan çalışmada büyüme anormalileri gösteren ağaçlar türler bazında örneklenmiştir. Bursa ve İnegöl Orman İşletme Müdürlüklerinde (OİM) satışa sunulan emval türleri incelenmiştir. Ayrıca bu tür masif ağaç işleyen işletmelerle yapılan anket çalışmaları ile sektörün durumu değerlendirilmiştir. Masif ağacın işlenmesi sonucu meydana gelen tasarım ürünler araştırılarak maliyet ve satış ortalamaları mukayese edilmiştir. Çalışma sonucunda büyüme anormalilerinin ağaç türlerine göre farklılaştığı ve en fazla anormalliğin çınarda, en az karaçamda olduğu görülmüştür. Bu oluşumların sektörce değerlendirildiğinde katma değeri çok yüksek ürünlere dönüştürülebileceği belirlenmiştir.

Clinical and Instrumental Temporomandibular Joint Evaluation in Children and Adolescents with Juvenile Idiopathic Arthritis: A Medium-Term Follow-Up

(1) Background: The aim of the study was to assess the potential effectiveness of clinical diagnostic examinations, such as muscle palpation, and instrumental examinations, such as electromyography, in the early detection of TMJ involvement in patients with juvenile idiopathic arthritis (JIA), as early diagnosis of these disorders can reduce the risk of developing facial growth anomalies and dento-skeletal malocclusions. (2) Methods: Evaluations were conducted on a cohort of 15 people with juvenile idiopathic arthritis (JIA) and a comparison group of 15 healthy participants at the start of the trial (T0) and after 18 ± 6 months (T1). Data were obtained through clinical examination, involving muscle palpation of the anterior temporalis, masseters, and sternocleidomastoids, and by instrumental analysis using electromyography. The parametric student’s t-test was used to evaluate group comparisons for data that were normally distributed, whereas the nonparametric Mann–Whitney U test was employed for parameters that did not follow a normal distribution. (3) Results: In the JIA group, higher levels of pain were recorded in the sternocleidomastoid muscles on both sides as compared to the control group (p &lt; 0.05) at both T0 and T1. Electromyography revealed no statistically significant variances both in the JIA group and in the control group, except for the IMP index, characterized by a significant improvement over time for the JIA group. (4) Conclusions: According to the methodology employed in this study, all JIA patients had TMD symptoms, mainly muscle disorders. The existence of statistically significant parameters suggests the potential to regard muscle palpation and electromyography as predictive indicators of TMJ involvement in JIA subjects. Additional research is required to validate their reliability.

Skeletal age evaluation using hand X-rays to determine growth problems

A common clinical method for identifying anomalies in bone growth in infants and newborns is skeletal age estimation with X-ray images. Children’s bone abnormalities can result from several conditions including wounds, infections, or tumors. One of the most frequent reasons for bone issues is that most youngsters are affected by the slow displacement of bones caused by pressure applied to the growth plates as youngsters develop. The growth plate can be harmed by a lack of blood supply, separation from other parts of the bone, or slight misalignment. Problems with the growth plate prevent bones from developing, cause joint distortion, and may cause permanent joint injury. A significant discrepancy between the chronological and assessed ages may indicate a growth problem because determining bone age represents the real level of growth. Therefore, skeletal age estimation is performed to look for endocrine disorders, genetic problems, and growth anomalies. To address the bone age assessment challenge, this study uses the Radiological Society of North America’s Pediatric Bone Age Challenge dataset which contains 12,600 radiological images of the left hand of a patient that includes the gender and bone age information. A bone age evaluation system based on the hand skeleton guidelines is proposed in this study for the detection of hand bone maturation. The proposed approach is based on a customized convolutional neural network. For the calculation of the skeletal age, different data augmentation techniques are used; these techniques not only increase the dataset size but also impact the training of the model. The performance of the model is assessed against the Visual Geometry Group (VGG) model. Results demonstrate that the customized convolutional neural network (CNN) model outperforms the VGG model with 97% accuracy.

Deeplasia: deep learning for bone age assessment validated on skeletal dysplasias

BackgroundSkeletal dysplasias collectively affect a large number of patients worldwide. Most of these disorders cause growth anomalies. Hence, evaluating skeletal maturity via the determination of bone age (BA) is a useful tool. Moreover, consecutive BA measurements are crucial for monitoring the growth of patients with such disorders, especially for timing hormonal treatment or orthopedic interventions. However, manual BA assessment is time-consuming and suffers from high intra- and inter-rater variability. This is further exacerbated by genetic disorders causing severe skeletal malformations. While numerous approaches to automate BA assessment have been proposed, few are validated for BA assessment on children with skeletal dysplasias.ObjectiveWe present Deeplasia, an open-source prior-free deep-learning approach designed for BA assessment specifically validated on patients with skeletal dysplasias.Materials and methodsWe trained multiple convolutional neural network models under various conditions and selected three to build a precise model ensemble. We utilized the public BA dataset from the Radiological Society of North America (RSNA) consisting of training, validation, and test subsets containing 12,611, 1,425, and 200 hand and wrist radiographs, respectively. For testing the performance of our model ensemble on dysplastic hands, we retrospectively collected 568 radiographs from 189 patients with molecularly confirmed diagnoses of seven different genetic bone disorders including achondroplasia and hypochondroplasia. A subset of the dysplastic cohort (149 images) was used to estimate the test–retest precision of our model ensemble on longitudinal data.ResultsThe mean absolute difference of Deeplasia for the RSNA test set (based on the average of six different reference ratings) and dysplastic set (based on the average of two different reference ratings) were 3.87 and 5.84 months, respectively. The test–retest precision of Deeplasia on longitudinal data (2.74 months) is estimated to be similar to a human expert.ConclusionWe demonstrated that Deeplasia is competent in assessing the age and monitoring the development of both normal and dysplastic bones.Graphical

Genetic basis for skeletal new bone formation

Bone formation is a complex process that occurs throughout life, and is normally limited to the skeletal system. In bone formation, osteoprogenitor cells follow several developmental stages, including differentiation in osteoblasts, proliferation, matrix maturation, and mineralization. The mechanisms involved in the mineralization process of bone, such as in the new bone formation, are extremely complex and have been under intense investigation for many years. Bone formation follows two distinct processes, intramembranous and endochondral ossification; both are regulated by signaling pathways involving numerous genes. Disturbance of these signaling pathways may cause a large spectrum of skeletal diseases characterized by new bone formation and bone growth anomalies. This review will only focus on the key genetic pathways involved in heterotopic bone formation. Wingless/integrated (Wnt), hedgehog (HH), and transforming growth factor beta (TGFβ)/bone morphogenetic protein (BMP) signaling pathways are described and illustrated; their relation with new bone formation is demonstrated through their involvement in bone formation disorders.