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Developmental Biology Feb 2021The development of joints in the mammalian skeleton depends on the precise regulation of multiple interacting signaling pathways including the bone morphogenetic protein...
The development of joints in the mammalian skeleton depends on the precise regulation of multiple interacting signaling pathways including the bone morphogenetic protein (BMP) pathway, a key regulator of joint development, digit patterning, skeletal growth, and chondrogenesis. Mutations in the BMP receptor ACVR1 cause the rare genetic disease fibrodysplasia ossificans progressiva (FOP) in which extensive and progressive extra-skeletal bone forms in soft connective tissues after birth. These mutations, which enhance BMP-pSmad1/5 pathway activity to induce ectopic bone, also affect skeletal development. FOP can be diagnosed at birth by symmetric, characteristic malformations of the great toes (first digits) that are associated with decreased joint mobility, shortened digit length, and absent, fused, and/or malformed phalanges. To elucidate the role of ACVR1-mediated BMP signaling in digit skeletal development, we used an Acvr1;Prrx1-Cre knock-in mouse model that mimics the first digit phenotype of human FOP. We have determined that the effects of increased Acvr1-mediated signaling by the Acvr1 mutation are not limited to the first digit but alter BMP signaling, Gdf5+ joint progenitor cell localization, and joint development in a manner that differently affects individual digits during embryogenesis. The Acvr1 mutation leads to delayed and disrupted joint specification and cleavage in the digits and alters the development of cartilage and endochondral ossification at sites of joint morphogenesis. These findings demonstrate an important role for ACVR1-mediated BMP signaling in the regulation of joint and skeletal formation, show a direct link between failure to restrict BMP signaling in the digit joint interzone and failure of joint cleavage at the presumptive interzone, and implicate impaired, digit-specific joint development as the proximal cause of digit malformation in FOP.
Topics: Activin Receptors, Type I; Animals; Body Patterning; Bone Morphogenetic Proteins; Chondrogenesis; Disease Models, Animal; Forelimb; Growth Differentiation Factor 5; Growth Plate; Hindlimb; Joints; Mice; Myositis Ossificans; Osteogenesis; Signal Transduction; Smad1 Protein; Smad5 Protein; Stem Cells; Toes
PubMed: 33217406
DOI: 10.1016/j.ydbio.2020.11.004 -
Frontiers in Human Neuroscience 2022Number processing abilities are important for academic and personal development. The course of initial specialization of ventral occipito-temporal cortex (vOTC)...
Number processing abilities are important for academic and personal development. The course of initial specialization of ventral occipito-temporal cortex (vOTC) sensitivity to visual number processing is crucial for the acquisition of numeric and arithmetic skills. We examined the visual N1, the electrophysiological correlate of vOTC activation across five time points in kindergarten (T1, mean age 6.60 years), middle and end of first grade (T2, 7.38 years; T3, 7.68 years), second grade (T4, 8.28 years), and fifth grade (T5, 11.40 years). A combination of cross-sectional and longitudinal EEG data of a total of 62 children (35 female) at varying familial risk for dyslexia were available to form groups of 23, 22, 27, 27, and 42 participants for each of the five time points. The children performed a target detection task which included visual presentation of single digits (DIG), false fonts (FF), and letters (LET) to derive measures for coarse (DIG vs. FF) and fine (DIG vs. LET) digit sensitive processing across development. The N1 amplitude analyses indicated coarse and fine sensitivity characterized by a stronger N1 to digits than false fonts across all five time points, and stronger N1 to digits than letters at all but the second (T2) time point. In addition, lower arithmetic skills were associated with stronger coarse N1 digit sensitivity over the left hemisphere in second grade (T4), possibly reflecting allocation of more attentional resources or stronger reliance on the verbal system in children with poorer arithmetic skills. To summarize, our results show persistent visual N1 sensitivity to digits that is already present early on in pre-school and remains stable until fifth grade. This pattern of digit sensitivity development clearly differs from the relatively sharp rise and fall of the visual N1 sensitivity to words or letters between kindergarten and middle of elementary school and suggests unique developmental trajectories for visual processing of written characters that are relevant to numeracy and literacy.
PubMed: 35959243
DOI: 10.3389/fnhum.2022.887413 -
Beijing Da Xue Xue Bao. Yi Xue Ban =... Jun 2021To analyze the clinical characteristics of 170 cases of macrodactyly.
OBJECTIVE
To analyze the clinical characteristics of 170 cases of macrodactyly.
METHODS
Medical records of 170 macrodactyly patients at Beijing Jishuitan Hospital between March 2006 and October 2019, including demographic characteristics, clinical presentations, anatomical distributions, X-rays, pathological findings, and treatments, were reviewed. PIK3CA mutation analyses of 12 patients were also reviewed.
RESULTS
Disease incidence was similar across sex and geographical regions. Multiple-digit involvement was 3.9 times more frequent than single-digit involvement. In upper deformit: ies, the index finger, middle finger and thumb were mostly involved, and the second and third toes were the most affected on the foot. Two digits were affected more often than three digits, with the affected multiple digits were adjacent most time. The cases of progressive macrodactyly, in which the affected digits grew at a faster rate than the unaffected digits, were found more than static type. Most of progressive macrodactyly were noticed at birth. In terms of nerve involvement, affected fingers mostly occurred in the median nerve innervation area (79.4%) accompanied by median nerve and brunches enlargement and fat infiltration, i.e., nerve territory oriented; affected toes mostly occurred in the medial plantar nerve innervation area (89.1%), marked with overgrowth of adipose tissue with a lesser degree of neural overgrowth, i.e., lipomatous. Only 17 cases had comorbid of syndactyly. The metacarpal bones were involved only in progressive type of macrodactyly. Ten of the 12 cases subjected to mutation analysis were positive. Among all tested specimens, mutation levels ranged from 7% to 27%. In terms of tissue sources in which a mutation was found, adipose tissue had the highest mutation detection rate, followed by nerve and skin. All the DNA samples of blood from the 12 mutation-positive patients were negative.
CONCLUSION
Macrodactyly fingers mostly occurred in the median nerve innervation area accompanied by median nerve and brunches enlargement and fat infiltration. The index and middle fingers were mostly involved. Macrodactyly toes mostly occurred in the medial plantar nerve innervation area, marked with overgrowth of adipose tissue with a lesser degree of neural overgrowth. The second and third toes were the most affected on the foot. A high proportion (83%) of isolated macrodactyly patients carry activating PIK3CA mutations. Adipose, nerve, and skin tissues provide the highest PIK3CA mutation detection yield among all types of tissue studied.
Topics: DNA Mutational Analysis; Fingers; Humans; Infant, Newborn; Limb Deformities, Congenital; Mutation; Toes
PubMed: 34145866
DOI: 10.19723/j.issn.1671-167X.2021.03.025 -
Zoological Studies 2020Morphology has a direct influence on animal fitness. Studies addressing the identification of patterns and variations across several guilds are fundamental in...
Morphology has a direct influence on animal fitness. Studies addressing the identification of patterns and variations across several guilds are fundamental in ecomorphological research. Wings are the core of ecological morphology in bats; nevertheless, individual bones and structures that support the wing, including metacarpals, phalanges and the length of digits, have rarely been the subject of comprehensive research when studying wing morphology. Here, I analyzed morphological variations of wing structures across 11 bat guilds and how individual bone structures are correlated to diet, foraging mode and habitat use. I obtained wing measurements from 1512 voucher specimens of 97 species. All the specimens analyzed came from the Mammalian Collection at the Museo Javeriano de Historia Natural of Pontificia Universidad Javeriana (MPUJ-MAMM) (Bogotá, Colombia). Positive correlations between size and the length of the third and fifth digit were detected. Bat guilds that capture their preys using aerial strategy in uncluttered habitats had longer third digits but short fifth digits compared to guilds that rely on gleaning strategy and forage in highly cluttered space. Although terminal phalanges were shown to be important structures for guild classification, metacarpals were strongly related to aerial foragers from uncluttered habitats because of their potential role in flight performance and ecological adaptations. Results show that habitat use, as well as foraging mode, are reflected in wing structures. Different wing traits to those evaluated in this study should be considered to better understand the ecological interactions, foraging strategy, wing adaptations, and flight performance in Neotropical bats.
PubMed: 34140977
DOI: 10.6620/ZS.2020.59-60 -
Cognitive Science Oct 2023Reading numbers aloud involves visual processes that analyze the digit string and verbal processes that produce the number words. Cognitive models of number reading...
Reading numbers aloud involves visual processes that analyze the digit string and verbal processes that produce the number words. Cognitive models of number reading assume that information flows from the visual input to the verbal production processes-a feed-forward processing mode in which the verbal production depends on the visual input but not vice versa. Here, I show that information flows also in the opposite direction, from verbal production to the visual input processes. Participants read aloud briefly presented multi-digit strings in Hebrew, in which the order of words is congruent with the order of digits (21 = twenty-and-one), and in Arabic, in which the ones word precedes the tens word (one-and-twenty). The error-by-digit-position curve was affected by language: relative to Hebrew, in Arabic the error rate was slightly lower for the unit digit and slightly higher for the decade digit, indicating that in Arabic the unit digit was processed earlier and the decade digit later, in accord with the Arabic word order. This language-dependent processing order originated in the visual level and was not a verbal confound, because it persisted even when I controlled for the serial position of the decade/unit word in the verbal number by using numbers with 0 (two hundred three/two hundred thirty). I conclude that the visual analyzer's digit scanning order, decade-first or unit-first, is not fixed but affected by the language in which the number is produced-a top-down, verbal-to-visual information flow.
Topics: Humans; Reading; Language
PubMed: 37864833
DOI: 10.1111/cogs.13368 -
Journal of Audiology & Otology Apr 2023The digits-in-noise (DIN) test was developed as a simple and time-efficient hearing-in-noise test worldwide. The Korean version of the DIN (K-DIN) test was previously...
BACKGROUND AND OBJECTIVES
The digits-in-noise (DIN) test was developed as a simple and time-efficient hearing-in-noise test worldwide. The Korean version of the DIN (K-DIN) test was previously validated for both normal-hearing and hearing-impaired listeners. This study aimed to explore the factors influencing the outcomes of the K-DIN test further by analyzing the threshold (representing detection ability) and slope (representing test difficulty) parameters for the psychometric curve fit. Subjects and.
METHODS
In total, 35 young adults with normal hearing participated in the K-DIN test under the following four experimental conditions: 1) background noise (digit-shaped vs. pink noise); 2) gender of the speaker (male vs. female); 3) ear side (right vs. left); and 4) digit presentation levels (55, 65, 75, and 85 dB). The digits were presented using the method of constant stimuli procedure. Participant responses to the stimulus trials were used to fit a psychometric function, and the threshold and slope parameters were estimated according to pre-determined criteria. The accuracy of fit performance was determined using the root-mean-square error calculation.
RESULTS
The listener's digit detection ability (threshold) was slightly better with pink noise than with digit-shaped noise, with similar test difficulties (slopes) across the digits. Gender and the tested ear side influenced neither the detection ability nor the task difficulty. Additionally, lower presentation levels (55 and 65 dB) elicited better thresholds than the higher presentation levels (75 and 85 dB); however, the test difficulty varied slightly across the presentation levels.
CONCLUSIONS
The K-DIN test can be influenced by stimulus factors. Continued research is warranted to understand the accuracy and reliability of the test better, especially for its use as a promising clinical measure.
PubMed: 36950808
DOI: 10.7874/jao.2022.00472 -
World Journal of Orthopedics Dec 2019Trigger digit is a common disorder of the hand associated with carpal tunnel syndrome. Carpal tunnel release (CTR) surgery may be a risk factor for trigger digit...
BACKGROUND
Trigger digit is a common disorder of the hand associated with carpal tunnel syndrome. Carpal tunnel release (CTR) surgery may be a risk factor for trigger digit development; however, the association between surgical approach to CTR and postoperative trigger digit is equivocal.
AIM
To investigate patient risk factors for trigger digit development following either open carpal tunnel release (OCTR) or endoscopic carpal tunnel release (ECTR).
METHODS
This retrospective chart analysis evaluated 967 CTR procedures from 694 patients for the development of postoperative trigger digit. Patients were stratified according to the technique utilized for their CTR, either open or endoscopic. The development of postoperative trigger digit was evaluated at three time points: within 6 mo following CTR, between 6 mo and 12 mo following CTR, and after 12 mo following CTR. Firth's penalized likelihood logistic regression was conducted to evaluate sociodemographic and patient comorbidities as potential independent risk factors for trigger digit. Secondary regression models were conducted within each surgical group to reveal any potential interaction effects between surgical approach and patient risk factors for the development of postoperative trigger digit.
RESULTS
A total of 47 hands developed postoperative trigger digit following 967 CTR procedures (4.9%). In total, 64 digits experienced postoperative triggering. The long finger was most commonly affected. There was no significant difference between the open and endoscopic groups for trigger digit development at all three time points following CTR. Furthermore, there were no significant independent risk factors for postoperative trigger digit; however, within group analysis revealed a significant interaction effect between gender and surgical approach ( = 0.008). Females were more likely to develop postoperative trigger digit than males after OCTR(OR = 3.992), but were less likely to develop postoperative trigger digit than males after ECTR (OR = 0.489).
CONCLUSION
Patient comorbidities do not influence the development of trigger digit following CTR. Markedly, gender differences for postoperative trigger digit may depend on surgical approach to CTR.
PubMed: 31908994
DOI: 10.5312/wjo.v10.i12.454 -
Frontiers in Public Health 2022High right minus left (R-L) asymmetry of digit ratios has been reported to be linked to hospitalization for COVID-19. Here we examined the developmental patterns of this...
High right minus left (R-L) asymmetry of digit ratios has been reported to be linked to hospitalization for COVID-19. Here we examined the developmental patterns of this novel form of asymmetry in children and further explored their relationships to platelet counts and hospitalization for COVID-19 in adult patients. We considered ratios calculated from four digits (2D, 3D, 4D, 5D) in: (i) a sample of healthy participants aged 2 years to 18 years ( = 680, 340 males) and (ii) 96 adult patients (42 males) hospitalized for COVID-19 and 100 controls (53 males). The protocol for (ii) included a questionnaire and laboratory test results. In sample (i) of the six unsigned digit ratio asymmetries, those which included 5D had the highest mean asymmetry with the greatest between-individual variation and they were unstable over the age range of 2 years to 18 years. In sample (ii) patients showed higher asymmetries than controls in four ratios (2D:4D, 2D:5D, 3D:5D, 4D:5D) and a sum of asymmetries of the two independent ratios (2D:4D+3D:5D) correlated positively with platelet counts and hospitalization. Conclusion: Means and SDs of digit ratio asymmetry that include the 5th digit are high and age-unstable. Digit ratio asymmetry, particularly 5th digit ratio asymmetry and a composite measure of 2D:4D + 3D:5D asymmetry, may be positively linked to high platelet counts in COVID-19 patients and to an elevated risk of hospitalization.
Topics: Adult; Male; Child; Humans; Child, Preschool; Fingers; Platelet Count; Digit Ratios; COVID-19; Sex Characteristics; Hospitalization
PubMed: 36311570
DOI: 10.3389/fpubh.2022.995025 -
Frontiers in Cell and Developmental... 2023models allow for the study of developmental processes outside of the embryo. To gain access to the cells mediating digit and joint development, we identified a unique...
models allow for the study of developmental processes outside of the embryo. To gain access to the cells mediating digit and joint development, we identified a unique property of undifferentiated mesenchyme isolated from the distal early autopod to autonomously re-assemble forming multiple autopod structures including: digits, interdigital tissues, joints, muscles and tendons. Single-cell transcriptomic analysis of these developing structures revealed distinct cell clusters that express canonical markers of distal limb development including: , , and (phalanx formation), and (perichondrium), , , and (joint interzone), and (interdigital tissues), (muscle progenitors), (articular perichondrium/articular cartilage), and and (tenocytes/tendons). Analysis of the gene expression patterns for these signature genes indicates that developmental timing and tissue-specific localization were also recapitulated in a manner similar to the initiation and maturation of the developing murine autopod. Finally, the digit system also recapitulates congenital malformations associated with genetic mutations as cultures of mutant mesenchyme produced defects present in mutant autopods including digit fusions, reduced phalangeal segment numbers, and poor mesenchymal condensation. These findings demonstrate the robustness of the digit system to recapitulate digit and joint development. As an model of murine digit and joint development, this innovative system will provide access to the developing limb tissues facilitating studies to discern how digit and articular joint formation is initiated and how undifferentiated mesenchyme is patterned to establish individual digit morphologies. The digit system also provides a platform to rapidly evaluate treatments aimed at stimulating the repair or regeneration of mammalian digits impacted by congenital malformation, injury, or disease.
PubMed: 36994104
DOI: 10.3389/fcell.2023.1135025 -
Sensors (Basel, Switzerland) Dec 2022Many tasks that require a large workforce are automated. In many areas of the world, the consumption of utilities, such as electricity, gas and water, is monitored by...
Many tasks that require a large workforce are automated. In many areas of the world, the consumption of utilities, such as electricity, gas and water, is monitored by meters that need to be read by humans. The reading of such meters requires the presence of an employee or a representative of the utility provider. Automatic meter reading is crucial in the implementation of smart grids. For this reason, with the aim to boost the implementation of the smart grid paradigm, in this paper, we propose a method aimed to automatically read digits from a dial meter. In detail, the proposed method aims to localise the dial meter from an image, to detect the digits and to classify the digits. Deep learning is exploited, and, in particular, the YOLOv5s model is considered for the localisation of digits and for their recognition. An experimental real-world case study is presented to confirm the effectiveness of the proposed method for automatic digit localisation recognition from dial meters.
Topics: Humans; Computer Systems; Electricity
PubMed: 36616673
DOI: 10.3390/s23010075