ABSTRACT
The discovery and utilization of main-group element catalysts that behave similarly to transition metal (TM) complexes have become increasingly active areas of investigation in recent years. Here, we report a series of Lewis acidic bismuth(III) complexes that allow for the catalytic allylic C(sp3)-H functionalization of olefins via an organometallic complexation-assisted deprotonation mechanism to generate products containing new C-C bonds. This heretofore unexplored mode of main-group reactivity was applied to the regioselective functionalization of 1,4-dienes and allylbenzene substrates. Experimental and computational mechanistic studies support the key steps of the proposed catalytic cycle, including the intermediacy of elusive Bi-olefin complexes and allylbismuth species.
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AIM: To develop a new tool for identifying joint hypermobility of the paediatric foot and ankle, based on a dichotomous scoring system utilising the Lower Limb Assessment Score (LLAS), to separate the foot and ankle items. MATERIAL AND METHODS: A total of 205 children, aged between 5 and 10 years, participated in a cross-sectional study. The new tool Foot and Ankle Flexibility Index (FAFI) was predicated upon the last 7 items of LLAS, which are specific to the foot and ankle. The internal consistency was measured with Cronbach's test. Kappa statistics with 95% CI were calculated to verify the level of inter-rater and intra-rater agreement for the FAFI. RESULTS: Cronbach's alpha returned 0.82. The correlations between items returned a mean of 0.59 (range: 0.43-0.74). The discrimination score on the ROC curve (4 points) showed that the model can be used to identify children with joint hypermobility of the foot and ankle. Inter-rater reliability was largely good (ICC = 0.89). Excellent intra-rater reliability was found (ICC = 0.96) CONCLUSIONS: This study identified high reliability between evaluators, and high sensitivity and specificity, for a new reliable and valid tool for the identification of foot and ankle joint hypermobility.
Subject(s)
Psychometrics , Humans , Male , Female , Cross-Sectional Studies , Child , Reproducibility of Results , Psychometrics/methods , Psychometrics/instrumentation , Child, Preschool , Joint Instability/diagnosis , Joint Instability/physiopathology , Range of Motion, Articular/physiology , Ankle Joint/physiopathology , Foot/physiopathology , Foot/physiologyABSTRACT
BACKGROUND: The hallux dorsiflexion resistance test is a frequently employed clinical maneuver for assessing the initiation of the windlass mechanism This maneuver involves dorsiflexion of the phalanx of the hallux, thereby evaluating plantarflexion of the first metatarsal, elevation of the medial longitudinal arch, and supination of the rearfoot. The windlass mechanism plays a crucial role in gait, and orthopedic devices, such as a kinetic wedge, which aims to facilitate its activation by increasing the hallux dorsiflexion. Although it is believed that facilitating the windlass mechanism with the kinetic wedge should be directly correlated with a decrease in hallux dorsiflexion resistance, its effects have yet to be characterized. Thus, this study aimed to determine the influence of a kinetic wedge on hallux dorsiflexion resistance in asymptomatic individuals. METHODS: The sample comprised thirty participants (14 women and 16 men). A digital force gauge measured the force required to perform the hallux dorsiflexion resistance test during two conditions: barefoot and with a kinetic wedge. The Wilcoxon signed-rank test was used to compare the hallux dorsiflexion resistance between conditions. RESULTS: A statistically significant reduction in force (10.54 ± 3.16N vs. 19.62 ± 5.18N, p < 0.001) was observed when using the kinetic wedge compared to the barefoot condition during the hallux dorsiflexion resistance test. CONCLUSION: The use of a kinetic wedge reduces the required force for performing the passive hallux dorsiflexion resistance test in asymptomatic individuals. Future studies should determine to what extent the kinetic wedge can attenuate the required force to dorsiflex the hallux in individuals with musculoskeletal disorders such as plantar fasciopathy and functional hallux limitus.
Subject(s)
Hallux , Humans , Female , Male , Adult , Hallux/physiology , Young Adult , Biomechanical Phenomena/physiology , Gait/physiology , Range of Motion, Articular/physiologyABSTRACT
Inflammatory myofibroblastic tumor is an extremely rare neoplastic lesion with a predilection for aggressive local and recurrent behavior. The tumor tends to occur in the lungs of children and young adults, and although it can develop in older patients and other organs, this is extremely rare. Symptoms are nonspecific and depend on the location and size of the tumor. The gastrointestinal tract is rarely this mass's primary site of origin, and the cecum is an even rarer location. We present the case of an otherwise healthy 55-year-old female who presented with an acute abdomen and a mass in her abdomen; after successful surgery, she fully recovered. Inflammatory myofibroblastic tumor causing acute abdomen was the final diagnosis.
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BACKGROUND: Reducing malnutrition is a key priority for governments in low- and middle-income countries given its lasting effects on child development, health, income, and economic growth. Strategies to improve recommended infant and young child feeding (IYCF) practices, especially during the first two years of life, are considered among the most effective. METHODS: In this paper, we evaluate the long-run impacts of an innovative education strategy based on interactive play and performing arts implemented in El Alto, Bolivia on caregivers' IYCF knowledge and practices. Two thousand and fifteen households were randomly assigned to intervention and control groups. Two rounds of data were collected approximately 30 and 42 months after baseline. We estimate short-term (30 month) and longer-term (42 month) intent-to-treat effects using multivariate linear regression analysis, with and without controlling for covariates. RESULTS: The program significantly increased caregiver IYCF knowledge by 0.13 SDs in the short run, and this effect grew over time. The program also improved adherence to recommended IYCF practices by 0.23 standard deviations (SDs) in the short term, but the effect on practices dissipated over time, and no longer-term impacts were detected. Caregivers with above median baseline knowledge, number of children, and age appear to have benefited most from the program. CONCLUSIONS: Our findings suggest that entertainment-education interventions are a promising model for improving and maintaining IYCF knowledge. However, their ability to sustain more permanent changes in IYCF practices is less certain. Further evidence is needed to identify other avenues for producing long-term, sustainable behavior change, especially among indigenous populations in Latin America, where literature on education and behavior-change interventions related to IYCF practices is limited.
Subject(s)
Feeding Behavior , Infant Nutritional Physiological Phenomena , Infant , Child , Humans , Female , Health Education , Child Development , Family Characteristics , Breast Feeding , DietABSTRACT
This study aimed to investigate the variations in foot type, laxity, dynamic characteristics of gait, and the characteristics of the stance phase of gait, in relation to body mass index (BMI) and groups of children of different ages. Additionally, it aimed to explore the correlations between BMI and these variables across children groups of different ages. A cross-sectional study was conducted involving 196 infants aged between 5 and 10 years old. The variables assessed included BMI, foot type, laxity, dynamic variables, and characteristics of the stance phase of gait. Significant variations were observed in foot type, laxity, certain dynamic variables, and characteristics of the stance phase of gait between normoweight (NW) and overweight/obese (OW/OB) groups among children aged between 5 and 10 years old (p ranged between 0.019 and 0.050). Moreover, BMI was also positively associated with the initial forefoot contact, heel off, total duration of the step, and forefoot contact phase of children 7 to 10 years of age (p ranged between < 0.010 and 0.040). Conclusion: Children who are OW/OB had alterations at different stages of gait. Being OW/OB is related to alterations of the phases of gait mainly from 7 to 10 years of age, and spending more time in each of the phases of walking. This could indicate that children who are OW/OB, in addition to walking slower, overload the musculoskeletal system, subjecting their joints and muscles to greater stress. What is Known: ⢠Children who are overweight (OW) and obese (OB) can experience changes in their musculoskeletal systems, posture, and gait due to increased body mass index. ⢠OW and OB children experience additional stress on their musculoskeletal systems, impacting posture, biomechanics, mobility, physical activity, and daily tasks. Excessive plantar loading is linked to foot pain in adults. What is New: ⢠Body mass index was positively associated with initial forefoot contact, heel off, total duration of the step, and forefoot contact phase in children aged 7 to 10 years old. OW/OB children aged 5-6 exhibited less ankle dorsiflexion and smaller relaxed calcaneal stance position (RCSP) as compared to normal-weight children. ⢠Obese children aged 5-6 showed less pronation excursion, suggesting altered frontal plane movement due to RCSP differences. Children aged 7-8 who are OW/OB spent more time in certain gait phases, particularly in the forefoot contact phase. Being OW/OB is linked to altered gait parameters such as initial forefoot, heel off, total step duration, and forefoot contact phase. Being OW/OB was associated with a longer forefoot contact phase, particularly in the right foot.
Subject(s)
Pediatric Obesity , Adult , Infant , Child , Humans , Child, Preschool , Infant, Newborn , Cross-Sectional Studies , Overweight , Gait/physiology , Foot/physiology , Biomechanical PhenomenaABSTRACT
Wheat blast, caused by the Pyricularia oryzae Triticum lineage (PoT), first emerged in Brazil and quickly spread to neighboring countries. Its recent appearance in Bangladesh and Zambia highlights a need to understand the disease's population biology and epidemiology so as to mitigate pandemic outbreaks. Current knowledge is mostly based on characterizations of Brazilian wheat blast isolates and comparison with isolates from non-wheat, endemic grasses. These foregoing studies concluded that the wheat blast population lacks host specificity and, as a result, undergoes extensive gene flow with populations infecting non-wheat hosts. Additionally, based on genetic similarity between wheat blast and isolates infecting Urochloa species, it was proposed that the disease originally emerged via a host jump from this grass and that Urochloa likely plays a central role in wheat blast epidemiology owing to its widespread use as a pasture grass. However, due to inconsistencies with broader phylogenetic studies, we suspected that these seminal studies had not actually sampled the populations normally found on endemic grasses and, instead, had repeatedly isolated members of PoT and the related Lolium pathogen lineage (PoL1). Re-analysis of the Brazilian data as part of a comprehensive, global, phylogenomic dataset that included a small number of South American isolates sampled away from wheat confirmed our suspicion and identified four new P. oryzae lineages on grass hosts. As a result, the conclusions underpinning current understanding in wheat blast's evolution, population biology, and epidemiology are unsubstantiated and could be equivocal.
Subject(s)
Ascomycota , Magnaporthe , Triticum , Triticum/genetics , Phylogeny , Plant Diseases/genetics , PoaceaeABSTRACT
The objective of this study was to establish the accuracy of the resting calcaneal stance position (RCSP) for the assessment of flat foot (FF) in children, aligned to the validity of the foot posture index (FPI). The RCSP cut-off point was explored, in context of both FF prevalence and the relationship between FF and body weight. A total of 205 healthy children, aged 5 to 10 years, participated in a cross-sectional study. Correlation was performed between RCSP and FPI. ROC curve technique was calculated to assess differentiation between groups. A score equal to or greater than 7 on the FPI was used as the 'gold standard' for analysis. The correlation between FPI and RCSP was significant (r = 0.63; p < 0.01). The discrimination score on the ROC curve (6 points/degrees) shows that the model can be used to identify FF through RCSP, with a sensitivity of 67% and specificity of 85% returned. Conclusion: The results of this study indicate the role of RCSP for simple, accessible and quick screening of paediatric FF. This is especially pertinent for non-podiatric healthcare professional without specialised paediatric foot knowledge. What is Known: ⢠Most children develop a normal arch quickly, and flat feet usually resolve on their own between 2 and 6 years of age. ⢠The measurement used to diagnose flat foot in children must be accurate, consistent, and valid to characterize the standard foot position. The Resting Calcaneal Stance Position (RCSP) is another widely used measure to evaluate the position of the flat foot in children. What is New: ⢠The RCSP cut-off point 6 shows a sensitivity of 67% and a specificity of 85% thanks to the FPI as the Gold standard. ⢠The RCSP is useful for health professionals who are not specialised in pediatric foot health. The RCSP is useful to detect flat foot in children.
Subject(s)
Flatfoot , Child , Humans , Child, Preschool , Flatfoot/diagnosis , Cross-Sectional Studies , Foot , Posture , Body WeightABSTRACT
BACKGROUND: Low-Dye tape (LDT) is a short-term treatment for plantar fasciitis, where external stabilization by means of the tape improves kinetics, kinematics, pain level, and electromyography (EMG). PURPOSE: The purpose of this study was to compare the EMG of the medial gastrocnemius (MG) and changes in arch height (AH) based on the type of foot. METHODS: A total of 30 subjects participated in this study; they walked on a treadmill barefoot and when taped, where the average activity and changes in AH were measured over a 30 s period. The statistical intraclass correlation coefficient (ICC) to test for reliability was calculated, and the Wilcoxon test was determined for measures of EMG and AH. RESULTS: The reliability of the values of EMG was almost perfect. The data show that there was an increase in height in the comparison of the moment pre-baseline walking and post-taped walking on neutral feet (5.61 ± 0.46 vs. 5.77 ± 0.39 cm, p < 0.05), on pronated feet (5.67 ± 0.57 vs. 6.01 ± 0.53 cm, p < 0.001) and on supinated feet (5.97 ± 0.36 vs. 6.28 ± 0.27 cm, p < 0.05). In the MG, EMG activity decreased significantly in the taped condition compared to the baseline condition in neutral subjects (0.0081 ± 0.016 vs. 0.076 ± 0.016 mV, p < 0.05) and in pronated subjects (0.081 ± 0.022 vs. 0.068 ± 0.025 mV, p < 0.05). CONCLUSIONS: It was demonstrated that with the use of LDT, there was an improvement in the average activity in the MG in pronated and neutral feet. All foot types improved in arch height with the use of tape.
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Most plant pathogens exhibit host specificity but when former barriers to infection break down, new diseases can rapidly emerge. For a number of fungal diseases, there is increasing evidence that hybridization plays a major role in driving host jumps. However, the relative contributions of existing variation versus new mutations in adapting to new host(s) is unclear. Here we reconstruct the evolutionary history of two recently emerged populations of the fungus Pyricularia oryzae that are responsible for two new plant diseases: wheat blast and grey leaf spot of ryegrasses. We provide evidence that wheat blast/grey leaf spot evolved through two distinct mating episodes: the first occurred ~60 years ago, when a fungal individual adapted to Eleusine mated with another individual from Urochloa. Then, about 10 years later, a single progeny from this cross underwent a series of matings with a small number of individuals from three additional host-specialized populations. These matings introduced non-functional alleles of two key host-specificity factors, whose recombination in a multi-hybrid swarm probably facilitated the host jump. We show that very few mutations have arisen since the founding event and a majority are private to individual isolates. Thus, adaptation to the wheat or Lolium hosts appears to have been instantaneous, and driven entirely by selection on repartitioned standing variation, with no obvious role for newly formed mutations.
Subject(s)
Magnaporthe , Humans , Magnaporthe/genetics , Pandemics , Poaceae , Mutation , Triticum/genetics , Triticum/microbiology , Plant Diseases/microbiologyABSTRACT
Dynamic covalent chemistry (DCvC) is a powerful and widely applied tool in modern synthetic chemistry, which is based on the reversible cleavage and formation of covalent bonds. One of the inherent strengths of this approach is the perspective to reversibly generate in an operationally simple approach novel structural motifs that are difficult or impossible to access with more traditional methods and require multiple bond cleaving and bond forming steps. To date, these fundamentally important synthetic and conceptual challenges in the context of DCvC have predominantly been tackled by exploiting compounds of lighter p-block elements, even though heavier p-block elements show low bond dissociation energies and appear to be ideally suited for this approach. Here we show that a dinuclear organometallic bismuth compound, containing BiMe2 groups that are connected by a thioxanthene linker, readily undergoes selective and reversible cleavage of its Bi-C bonds upon exposure to external stimuli. The exploitation of DCvC in the field of organometallic heavy p-block chemistry grants access to unprecedented macrocyclic and barrel-type oligonuclear compounds.
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The inner layer of blood vessels consists of endothelial cells, which form the physical barrier between blood and tissue. This vascular barrier is tightly regulated and is defined by cell-cell contacts through adherens and tight junctions. To investigate the signaling that regulates vascular barrier strength, we focused on Rho GTPases, regulators of the actin cytoskeleton and known to control junction integrity. To manipulate Rho GTPase signaling in a temporal and spatial manner we applied optogenetics. Guanine-nucleotide exchange factor (GEF) domains from ITSN1, TIAM1, and p63RhoGEF, activating Cdc42, Rac, and Rho, respectively, were integrated into the optogenetic recruitment tool improved light-induced dimer (iLID). This tool allows for Rho GTPase activation at the subcellular level in a reversible and non-invasive manner by recruiting a GEF to a specific area at the plasma membrane, The membrane tag of iLID was optimized and a HaloTag was applied to gain more flexibility for multiplex imaging. The resulting optogenetically recruitable RhoGEFs (Opto-RhoGEFs) were tested in an endothelial cell monolayer and demonstrated precise temporal control of vascular barrier strength by a cell-cell overlap-dependent, VE-cadherin-independent, mechanism. Furthermore, Opto-RhoGEFs enabled precise optogenetic control in endothelial cells over morphological features such as cell size, cell roundness, local extension, and cell contraction. In conclusion, we have optimized and applied the optogenetic iLID GEF recruitment tool, that is Opto-RhoGEFs, to study the role of Rho GTPases in the vascular barrier of the endothelium and found that membrane protrusions at the junction region can rapidly increase barrier integrity independent of VE-cadherin.
Subject(s)
Endothelial Cells , rho GTP-Binding Proteins , rho GTP-Binding Proteins/genetics , rho GTP-Binding Proteins/metabolism , Rho Guanine Nucleotide Exchange Factors/metabolism , Endothelial Cells/metabolism , Optogenetics , Endothelium, Vascular/metabolismABSTRACT
BACKGROUND: Overweight (OW) and childhood obesity (OB) may cause foot problems and affect one's ability to perform physical activities. The study aimed to analyze the differences in descriptive characteristics, foot type, laxity, foot strength, and baropodometric variables by body mass status and age groups in children and, secondly, to analyze the associations of the BMI with different physical variables by age groups in children. METHODS: A descriptive observational study involving 196 children aged 5-10 years was conducted. The variables used were: type of foot, flexibility, foot strength and baropodometric analysis of plantar pressures, and stability by pressure platform. RESULTS: Most of the foot strength variables showed significant differences between the normal weight (NW), OW and OB groups in children aged between 5 and 8. The OW and OB groups showed the highest level of foot strength. In addition, the linear regression analyses showed, in children aged 5 to 8 years, a positive association between BMI and foot strength (the higher the BMI, the greater the strength) and negative association between BMI and stability (lower BMI, greater instability). CONCLUSIONS: Children from 5 to 8 years of age with OW and OB show greater levels of foot strength, and OW and OB children from 7 to 8 years are more stable in terms of static stabilometrics. Furthermore, between 5 and 8 years, having OW and OB implies having more strength and static stability.
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Cutaneous electrodes are routinely used for noninvasive electrophysiological sensing of signals from the brain, the heart, and the neuromuscular system. These bioelectronic signals propagate as ionic charge from their sources to the skin-electrode interface where they are then sensed as electronic charge by the instrumentation. However, these signals suffer from low signal-to-noise ratio arising from the high impedance at the tissue-to-electrode contact interface. This paper reports that soft conductive polymer hydrogels made purely of poly(3,4-ethylenedioxy-thiophene) doped with poly(styrene sulfonate) present nearly an order of magnitude decrease in the skin-electrode contact impedance (88%, 82%, and 77% at 10, 100, and 1 kHz, respectively) when compared to clinical electrodes in an ex vivo model that isolates the bioelectrochemical features of a single skin-electrode contact. Integrating these pure soft conductive polymer blocks into an adhesive wearable sensor enables high fidelity bioelectronic signals with higher signal-to-noise ratio (average 2.1 dB increase, max 3.4 dB increase) when compared to clinical electrodes across all subjects. The utility of these electrodes is demonstrated in a neural interface application. The conductive polymer hydrogels enable electromyogram-based velocity control of a robotic arm to complete a pick and place task. This work provides a basis for the characterization and use of conductive polymer hydrogels to better couple human and machine.
Subject(s)
Hydrogels , Polymers , Humans , Hydrogels/chemistry , Electric Impedance , Polymers/chemistry , Electrodes , SkinABSTRACT
Upon inflammation, leukocytes leave the circulation by crossing the endothelial monolayer at specific transmigration "hotspot" regions. Although these regions support leukocyte transmigration, their functionality is not clear. We found that endothelial hotspots function to limit vascular leakage during transmigration events. Using the photoconvertible probe mEos4b, we traced back and identified original endothelial transmigration hotspots. Using this method, we show that the heterogeneous distribution of ICAM-1 determines the location of the transmigration hotspot. Interestingly, the loss of ICAM-1 heterogeneity either by CRISPR/Cas9-induced knockout of ICAM-1 or equalizing the distribution of ICAM-1 in all endothelial cells results in the loss of TEM hotspots but not necessarily in reduced TEM events. Functionally, the loss of endothelial hotspots results in increased vascular leakage during TEM. Mechanistically, we demonstrate that the 3 extracellular Ig-like domains of ICAM-1 are crucial for hotspot recognition. However, the intracellular tail of ICAM-1 and the 4th Ig-like dimerization domain are not involved, indicating that intracellular signaling or ICAM-1 dimerization is not required for hotspot recognition. Together, we discovered that hotspots function to limit vascular leakage during inflammation-induced extravasation.
Subject(s)
Intercellular Adhesion Molecule-1 , Transendothelial and Transepithelial Migration , Intercellular Adhesion Molecule-1/genetics , Intercellular Adhesion Molecule-1/metabolism , Endothelial Cells/metabolism , Leukocytes/metabolism , Signal Transduction , Endothelium, Vascular/metabolism , Cell Movement , Cell AdhesionABSTRACT
Rice cultivation in South America is undergoing several intensification processes for economic reasons that cause more rice to be planted continuously on the same soils. This intensification makes the long-term biological and economic sustainability of systems questionable. Among the most common problems that threaten sustainability in intensified systems is pest and disease pressure. In this context, the primary rice diseases were studied during a 6-year period in a long-term experiment of rice rotations established in 2012 in Uruguay. The experiment consisted of six rice rotations with other crops with different duration and intensification levels. The main disease found was stem rot and, to a lesser extent, aggregate sheath spot and sheath spot of rice. These diseases are of importance in intensified rice systems because they produce sclerotia that accumulate in soils. Disease occurrence was variable among years and rotations. Stem rot incidence increased rapidly in the experiment, reaching values close to 85% in the third year, while the severity varied each year. Sheath spot incidence and severity were low and varied with the year. Continuous rice (CR) reached the highest occurrence values for stem rot, but other systems with short pastures in rotation did not differ. Aggregate sheath spot and sheath spot were of importance only in CR and in some years. When levels of intensification were compared, systems with less time (25 to 60%) occupied with rice showed lower disease severity and higher yields. Comparing CR with rice rotation with pastures of different lengths (1 to 3 years), disease occurrence was higher in 2 of the 4 years analyzed. However, yields were consistently lower, denoting that other factors are influencing productivity. Stem and sheath diseases appear not to be a limiting factor in the medium term in intensified rice systems. Also, there are several alternatives of rice intensification incorporating crops and pastures in the rotation.
Subject(s)
Oryza , Soil , South America , UruguayABSTRACT
Modifying neural activity is a substantial goal in neuroscience that facilitates the understanding of brain functions and the development of medical therapies. Neurobiological models play an essential role, contributing to the understanding of the underlying brain dynamics. In this context, control systems represent a fundamental tool to provide a correct articulation between model stimulus (system inputs) and outcomes (system outputs). However, throughout the literature there is a lack of discussions on neurobiological models, from the formal control perspective. In general, existing control proposals applied to this family of systems, are developed empirically, without theoretical and rigorous framework. Thus, the existing control solutions, present clear and significant limitations. The focus of this work is to survey dynamical neurobiological models that could serve for closed-loop control schemes or for simulation analysis. Consequently, this paper provides a comprehensive guide to discuss and analyze control-oriented neurobiological models. It also provides a potential framework to adequately tackle control problems that could modify the behavior of single neurons or networks. Thus, this study constitutes a key element in the upcoming discussions and studies regarding control methodologies applied to neurobiological systems, to extend the present research and understanding horizon for this field.
Subject(s)
Brain , Humans , Brain/physiology , Computer SimulationABSTRACT
Introduction: Ehlers-Danlos Syndrome (EDS) consists of a group of diseases that imply a disorder among individuals connective tissue due to an altered collagen production. Fibrocartilaginous structures, support ligaments, disc and retrodiscal from the temporomandibular joint are composed primarily of collagen. Objective: Identify TMJ manifestations in patients with different types of EDS. Materials and Methods: a systematic review of the literature was performed on PubMed, Scopus and Web of Science databases. Observational studies and case series reports published either in spanish or panish were included up until January 2023. Results: 12 articles met the inclusion criterial. The prevalence of temporomandibular disorders varies from 26.6% to 100%, being EDSh the most reported subtype, whereas disc displacement with or without reduction and joint hypermobility were the most reported joint disorders. Conclusion: Temporomandibular pathologies are common in patients with EDS, especially in those with the EDSh subtype.
ABSTRACT
Introducción: el síndrome del incisivo central maxilar medio único (SMMCI) es un trastorno de etiología desconocida, con base genética heterogénea, que se caracteriza por la erupción de un único incisivo central en el maxilar y que se puede relacionar con multitud de patologías y síndromes, entre los que destacan las alteraciones de la línea media, obstrucción nasal congénita, disfunción hipofisaria, talla baja y holoprosencefalia. Caso clínico: neonato mujer con síndrome dismórfico no filiado y obstrucción nasal congénita, que es diagnosticada de SMMCI tras consultar en repetidas ocasiones por cuadros de dificultad respiratoria y problemas para alimentarse. Conclusiones: el conocimiento de este raro síndrome es fundamental para la realización de un diagnóstico precoz por parte del equipo pediátrico y obstétrico, ya que un diagnóstico temprano es posible, mejorando la evaluación prenatal ecográfica, así como el adecuado manejo posnatal multidisciplinar posterior de nuestros pacientes.
Introduction: the Solitary Median Maxillary Central Incisor Syndrome (SMMCI) is a disorder of unknown etiology, with a heterogeneous genetic basis, characterized by the eruption of a single central incisor in the maxilla and that can be linked to various pathologies and syndromes, among which the alterations of the midline, congenital nasal obstruction, pituitary dysfunction, short stature and holoprosencephaly stand out. Clinical case: female newborns with unknown dysmorphic syndrome and congenital nasal obstruction, diagnosed with SMMCI after repeated consultations due to respiratory distress and feeding problems. Conclusions: understanding this rare syndrome is essential for an early diagnosis to be carried out by the pediatric and obstetric team, since it will improve the ultrasound prenatal assessment, as well as the adequate subsequent multidisciplinary postnatal patient management procedures.
Introdução: a síndrome do incisivo central maxilar médio solitário (SICMMS) é uma desordem de etiologia desconhecida, com base genética heterogênea, caracterizada pela erupção de um único incisivo central na maxila e que pode estar relacionada a uma infinidade de patologias e síndromes. onde se destacam alterações da linha média, obstrução nasal congênita, disfunção hipofisária, baixa estatura e holoprosencefalia. Caso clínico: recém-nascida com síndrome dismórfica de origem desconhecida e obstrução nasal congênita, diagnosticada com SICMSS após várias consultas por desconforto respiratório e problemas de alimentação. Conclusões: o conhecimento desta rara síndrome é essencial para que a equipe pediátrica e obstétrica possa fazer um diagnóstico precoce, pois ele pode melhorar a avaliação ultrassonográfica pré-natal, bem como o adequado manejo pós-natal multidisciplinar pós-natal dos pacientes.
Subject(s)
Humans , Female , Infant, Newborn , Abnormalities, Multiple/diagnostic imaging , Nasal Obstruction/diagnostic imaging , Constriction, Pathologic/diagnostic imaging , Syndrome , Abnormalities, Multiple/pathology , Nasal Obstruction/surgery , Holoprosencephaly/diagnostic imaging , Incisor/abnormalities , Anodontia/complicationsABSTRACT
Resumen Debido a la implementación de las colonoscopias como método de tamizaje, ha aumentado el diagnóstico de tumores neuroendocrinos rectales (TNER), la mayoría tiene un tamaño menor de 1 centímetro en el momento del diagnóstico, confinado a la submucosa y bien diferenciado; generalmente tienen un curso benigno y en su mayoría se tratan por métodos endoscópicos. Las metástasis son raras y dependen del tamaño tumoral y otros factores como la invasión a la submucosa, diseminación linfática y clasificación histológica, lo cual determinará el pronóstico y tratamiento a elección. Se presenta el caso de un tumor neuroendocrino rectal presentado en forma de pólipo durante un tamizaje endoscópico de rutina y una aproximación de la literatura actual.
Abstract Diagnosis of rectal neuroendocrine tumor (NET) has increased due to the implementation of colonoscopies as a screening method. Most rectal NETs are less than 1cm at diagnosis time, confined to the submucosa, and well differentiated. They generally have a benign course and are treated mainly using endoscopic methods. Metastases are rare and depend on tumor size and other factors such as submucosal invasion, lymphatic spread, and histologic classification, which will determine the prognosis and treatment. We present a case of a rectal neuroendocrine tumor as a polyp during routine endoscopic screening and a review of the current literature.