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Genetic variants in the zone of polarizing activity regulatory sequence (ZRS) that induce ectopic expression of the SHH gene have been associated with different ZRS-related phenotypes. We report the first patient with a de novo variant, c.423+4916 T>C, in ZRS (previously classified as a variant of uncertain significance) that causes tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS). A two-month-old male patient presented with bilateral preaxial polydactyly, triphalangeal thumb, and tibial agenesis and was heterozygous for the variant c.423+4916T>C (neither of his parents was a carrier). The findings obtained from the family study were sufficient to reclassify the variant from "uncertain significance" to "likely pathogenic" according to three criteria from the American College of Medical Genetics and Genomics guidelines, as follows: (1) absence of gnomAD, (2) confirmation of paternity and maternity, and (3) strong phenotype-genotype association. In ZRS-associated syndromes, a wide clinical spectrum has been observed, ranging from polydactyly to THPTTS; our patient has the most severe and rare phenotype. We did not perform functional assays. However, the c.423+4916T>C variant is flanked by three variants, which have been proven not only to cause the phenotype but also to increase the expression of SHH. Through all this data gathering, we consider the c.423+4916T>C variant to be causative of THPTTS.

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When a genetic disease is characterized by the abnormal activation of normal molecular pathways and cellular events, it is illuminating to critically examine the places and times of these activities both in health and disease. Therefore, because heterotopic ossification (HO) in fibrodysplasia ossificans progressiva (FOP) is by far the disease's most prominent symptom, attention is also directed toward the pathways and processes of bone formation during skeletal development. FOP is recognizable by effects of the causative mutation on skeletal development even before HO manifests, specifically in the malformation of the great toes. This signature skeletal phenotype is the most highly penetrant, but is only one among several skeletal abnormalities associated with FOP. Patients may present clinically with joint malformation and ankylosis, particularly in the cervical spine and costovertebral joints, as well as characteristic facial features and a litany of less common, non-skeletal symptoms, all stemming from missense mutations in the ACVR1 gene. In the same way that studying the genetic cause of HO advanced our understanding of HO initiation and progression, insight into the roles of ACVR1 signaling during tissue development, particularly in the musculoskeletal system, can be gained from examining altered skeletal development in individuals with FOP. This review will detail what is known about the molecular mechanisms of developmental phenotypes in FOP and the early role of ACVR1 in skeletal patterning and growth, as well as highlight how better understanding these processes may serve to advance patient care, assessments of patient outcomes, and the fields of bone and joint biology.

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BACKGROUND: The gait variable minimum toe clearance (MTC) has been investigated concerning trip-related fall research in older adults. However, comparing studies is difficult due to the different methods used to measure MTC and shoe conditions, which may affect agreement. Measurement methods can include using a single virtual point (SVP), multiple virtual points (MVPS), or metatarsal head markers (marker-based). The shoe types used in MTC studies include standard shoes (SS), personal shoes (PS), and barefoot (BF) conditions. RESEARCH QUESTION: What is the agreement, inter and intra-rater reliability, and repeatability for the 3 commonly used methods of measuring MTC (SVP, MVPS, marker-based) under the 3 shoe conditions for optical motion capture systems (SS, PS, BF)? METHODS: Twelve healthy young adults (mean [SD] 23.8 [1.9] years,7 males) participated in this observational study. In a randomized order, participants completed 25 walking trials at self-selected normal and slow speeds in SS, PS, and BF conditions while infrared cameras recorded the maker trajectories. Each participant performed a familiarization trial for at least 1 minute before collecting data on each shoe condition. Statistical analyses included Bland-Altman 95 % limits of agreement (LOA) analyses, interclass correlation coefficient (ICC) analyses for inter- and intra-rater reliability, and the repeatability coefficient (RC). RESULTS: The SVP and MVPS had a tighter 95 % LOA than the marker-based method, particularly under SS and BF conditions. The inter-rater reliability was good to excellent under these shoe conditions. Intra-reliability for all methods under all shoe conditions was excellent (ICC >.90). The RC was very similar for each method, with none exceeding 1.02 cm. SIGNIFICANCE: The study provides estimates of the agreement between MTC methods and suggests that only SVP or MVPS produced similar results in SS/BF conditions. Additionally, a "true" change in MTC requires a difference greater than 1.02 cm.

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Neurofibromas, rare benign tumors of the peripheral nerve sheath, present diagnostic challenges, particularly in diabetic patients with toe ulcers. This case involves a 55-year-old female with type 2 diabetes mellitus who developed an enlarging ulcer on her right second toe. The initial evaluation suggested a diabetic ulcer; however, advanced imaging revealed a mass-like lesion. Partial excision and biopsy confirmed a neurofibroma with spindle cells within the myxoid stroma and S100 protein expression. One month later, total excision and Z-plasty reconstruction were performed under general anesthesia. The patient's postoperative recovery was uneventful, and the patient was discharged without complications. Follow-up revealed successful healing with no recurrence or functional issues. This case highlights the importance of considering neurofibromas in the differential diagnosis of diabetic toe ulcers to avoid misdiagnosis and ensure appropriate management.

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Great toe strength (GTS) weakness is linked to declines in balance and mobility. Accurately assessing GTS, particularly great toe extension strength (GTES), is often neglected in clinical evaluations due to cumbersome and subjective methods. This study aims to characterize the force development curve output from the ToeScale and examine GTES variations with age, sex, BMI, and grip strength (GS) using traditional analyses and machine learning (ML). We conducted a pilot, cross-sectional feasibility study with convenience samples. We assessed GS using a hand-grip dynamometer and GTES using the ToeScale. The data analysis included descriptive statistics, correlations, independent samples t-tests, and accuracy and area under the curve (AUC) scores for three ML models. Thirty-one participants (males: 9; females: 22), 14 young (18-24 years) and 17 older (>65 years) adults, participated in the study. Males had significantly higher peak GTES than females in both age groups. The associations of GTES parameters with BMI and GS varied by age and sex. The ML model accuracies and AUC scores were low-moderate but aligned with traditional analyses. Future studies with larger samples and optimized ML models are needed.

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Foot injuries, particularly degloving injuries, can lead to segmental loss of neurovascular structures in the toes, making simultaneous reconstruction of both the foot and toes challenging. This case report presents a technique using the superficial circumflex iliac artery perforator (SCIP) flap for immediate reconstruction of the dorsal foot and revascularization of multiple toes. A 28-year-old man suffered a degloving injury on the dorsum of his foot resulting in a 9 × 6cm skin defect, open fracture dislocations, exposure of tendons, and neurovascular injury, which included a 6-7.5 cm segmental defect of the vessels supplying the first, second, and third toes leaving all three toes ischemic. Immediate reconstruction was performed by harvesting a 12.5 × 5cm SCIP flap including both the superficial and deep branches and incorporating the superficial inferior epigastric vein (SIEV). The SCIP deep branch was used to revascularize the third and second toes and the SIEV vein graft used for the first toe. The patient recovered well, no complications were observed at the 2-year follow-up, preserving all three toes and regaining mobility. The use of the SCIP flap as a flow-through flap provides thin skin flap cover, good vessel caliber size match with digital vessels and reduces the need for vein grafts from distant sites improving surgical efficiency. These attributes make the flow-through interposition SCIP flap an excellent choice for reconstructing foot defects and revascularizing toes. We report this case to demonstrate the utility of the SCIP flap in immediate soft tissue cover and digit revascularization.

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Osteomyelitis (OM) in diabetic foot infection could have many presentations such as an infected ulcer spreading to the bone or superimposed to Charcot neuroarthropathy. However, the sausage toe as a diabetic OM presentation was very rarely investigated; therefore, this study aims to assess the prevalence and signs of this presentation along with treatment modalities and outcomes. This is a retrospective series of patients presenting a sausage toe on admission. Several methods were conducted to diagnose OM, and three treatment modalities were applied. Two groups were compared: acute and chronic sausage toes. Outcomes were defined as sausage toe prevalence, ulcer location, OM prevalence, and comparative treatment results. Out of 82 diabetic toe infection cases, 24 (30%) presented as 'sausage toe'. The side of the proximal interphalangeal joint of the lateral toes was the most frequent ulcer location (50%), mostly on the dorsal aspect followed by the side aspect. There were 15 (62.5%) acute cases and 9 (37.5%) chronic cases. MRI showed signs of OM in 21 (87.5%) cases and signs of septic arthritis in 3 (12.5%) cases. At the final follow-up, a successful treatment was recorded in five (20%) cases with antibiotics alone. Out of the 19 (42%) procedures, conservative surgery was performed successfully in 8 (58%) cases while amputation was needed in 11 (45.8%) cases. There was no significant difference in amputation frequency between acute and chronic groups. This is the first study documenting the sausage toe as a prevalent presentation of diabetic toe infection. The deformity is conclusive of deep infection with a very high osteomyelitis frequency. Surgery is often required for infection control and healing, mainly for chronic cases, and treatment outcomes did not differ between acute and chronic sausage toe groups. It could be beneficial to include this entity in the diabetic wound classification systems.

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This research introduces an adaptive control algorithm designed to determine gait phase in real-time using an inertial measurement unit (IMU) affixed to the shank. Focusing on detecting specific gait events, primarily initial contact (IC) and toe-off (TO), the algorithm utilizes dynamic thresholds and ratios that facilitate accurate event determination adaptively across a range of walking speeds. Built-in safety checks further ensure precision and minimize false detections. We validated the algorithm with eight participants walking at varying speeds. The algorithm demonstrated promising results in detecting IC and TO events with mean lead of 8.95 ms and 4.42 ms and detection success rate of 100% and 99.72%, respectively. These results are consistent with benchmarks from established algorithms (Hanlon and Anderson, 2009, "Real-Time Gait Event Detection Using Wearable Sensors," Gait Posture, 30(4), pp. 523-527; Maqbool et al., 2017, "A Real-Time Gait Event Detection for Lower Limb Prosthesis Control and Evaluation," IEEE Trans. Neural Syst. Rehabil. Eng.: Publ. IEEE Eng. Med. Biol. Soc., 25(9), pp. 1500-1509). Moreover, the algorithm's self-adaptive nature ensures it can be used in scenarios of varying movement, offering a promising solution for real-time gait phase detection.

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Surgical methods for lateral ray polydactyly with brachydactyly of the foot include simple toe ablation and toe lengthening. However, there are few reports on comparative studies, and there is no standard treatment. We retrospectively investigated cases of lateral ray polydactyly with brachydactyly treated at our department and related facilities. In our study, the prevalence of Hirai-Togashi classification type IV was 8.8% (13/147 toes). Five patients did not request toe lengthening and underwent simple ablation, resulting in a shortened remaining toe in these 5 patients. The surgical methods for toe lengthening were pedicle bone grafting in 2 cases and on-top formation in 6 cases. Good results can be obtained in the most common phalangeal type cases, but care must be taken in cases with block-shaped metatarsal heads to avoid poor toe alignment.

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Polydactyly is a very common digit anomaly, having extra digits in hands and/or toes. Non-syndromic polydactyly in both autosomal dominant and autosomal recessive forms are caused by disease-causing variants in several genes, including GLI1, GLI3, ZNF141, FAM92A, IQCE, KIAA0825, MIPOL1, STKLD1, PITX1, and DACH1. Whole exome sequencing (WES) followed by bi-directional Sanger sequencing was performed for the single affected individual (II-1) of the family to reveal the disease causative variant/gene. 3D protein modeling and structural molecular docking was performed to determine the effect of the identified mutation on the overall protein structure. WES revealed a novel biallelic missense variant (c.472G>C; p.Ala158Pro) in exon 6 of the FAM92A gene. The identified variant segregated perfectly with the disease phenotype using Sanger sequencing. Furthermore, Insilco analysis revealed that the variant significantly changes the protein secondary structure, and substantially impact the stability of FAM92A. We report the second FAM92A disease-causing mutation associated with recessive non-syndromic postaxial polydactyly. The data further confirms the contribution of FAM92A in limb development and patterning.

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Toe flexor strength is generated primarily by the flexor hallucis longus (FHL) of the extrinsic foot muscles (EFMs) and the plantar intrinsic foot muscles (PIFMs) of the great toe. Toe flexion methods can be broadly classified into toe grip (TG) and toe push-down (TP). Additionally, TP's interphalangeal joint (IPJ) position may influence the FHL and PIFMs activity ratios. This study aimed to elucidate the differences in the muscle activity and muscle activity ratios of the FHL and AbdH during TG, TP with IPJ flexion (TPIF), and TP with IPJ extension (TPIE). Surface electromyography and a custom-made instrument were used to measure the FHL and AbdH muscle activity during TG, TPIF, and TPIE of the great toe in 28 healthy men. The muscle activity and AbdH/FHL muscle activity ratio in the three conditions were statistically compared. The FHL activity was significantly higher during TG and TPIF than during TPIE. The AbdH muscle activity was significantly higher during TPIF and TPIE than that during TG. The AbdH/FHL muscle activity ratio was significantly higher for TPIE, TPIF, and TG in that order. This study showed that the FHL and AbdH muscle activity differed depending on the TG and TP of the great toe, and that the AbdH/FHL muscle activity ratio was different in the IPJ position. These results suggest that selecting a toe flexion method according to the target muscle when measuring and training the great toe flexor strength is important.

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Gravitational forces can induce deviations in body posture from desired configurations in multi-legged arboreal robot locomotion with low leg stiffness, affecting the contact angle between the swing leg's end-effector and the climbing surface during the gait cycle. The relationship between desired and actual foot positions is investigated here in a leg-stiffness-enhanced model under external forces, focusing on the challenge of unreliable end-effector attachment on climbing surfaces in such robots. Inspired by the difference in ceiling attachment postures of dead and living geckos, feedforward compensation of the stance phase legs is the key to solving this problem. A feedforward gravity compensation (FGC) strategy, complemented by leg coordination, is proposed to correct gravity-influenced body posture and improve adhesion stability by reducing body inclination. The efficacy of this strategy is validated using a quadrupedal climbing robot, EF-I, as the experimental platform. Experimental validation on an inverted surface (ceiling walking) highlights the benefits of the FGC strategy, demonstrating its role in enhancing stability and ensuring reliable end-effector attachment without external assistance. In the experiment, robots without FGC only completed 3 out of 10 trials, while robots with FGC achieved a 100% success rate in the same trials. The speed was substantially greater with FGC, achieving 9.2 mm s-1in the trot gait. This underscores the proposed potential of the FGC strategy in overcoming the challenges associated with inconsistent end-effector attachment in robots with low leg stiffness, thereby facilitating stable locomotion even at an inverted body attitude.

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BACKGROUND: This work aimed to investigate the change in fingerprint depth and the recovery rule of fingerprint biological recognition function after repairing finger abdominal defects and rebuilding fingerprint with a free flap. METHOD: From April 2018 to March 2023, we collected a total of 43 cases of repairing finger pulp defects using the free flap of the fibular side of the great toe with the digital nerve. After surgery, irregular follow-up visits were conducted to observe fingerprint clarity, perform the ninhydrin test or detect visible sweating with the naked eye. We recorded fingerprint clarity, nail shape, two-point discrimination, cold perception, warm perception and fingerprint recognition using smartphones. The reconstruction process of the repaired finger was recorded to understand the changes in various observation indicators and their relationship with the depth of the fingerprint. The correlation between fingerprint depth and neural repair was determined, and the process of fingerprint biological recognition function repair was elucidated. RESULT: All flaps survived, and we observed various manifestations in different stages of nerve recovery. The reconstructed fingerprint had a clear fuzzy process, and the depth changes of the fingerprint were consistent with the changes in the biological recognition function curve. CONCLUSION: The free flap with the digital nerve is used to repair finger pulp defects. The reconstructed fingerprint has a biological recognition function, and the depth of the fingerprint is correlated with the process of nerve repair. The fingerprint morphology has a dynamic recovery process, and it can reach a stable state after 6-8 months.

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BACKGROUND: Since the beginning of the coronavirus disease 2019 pandemic, the most common skin lesions observed due to infection with the severe acute respiratory syndrome coronavirus 2 are pseudochilblains (or coronavirus disease toes). However, this pathology remains infrequent and difficult to diagnose, as no specific test exists. CASE PRESENTATION: Two Caucasian women, 30 and 22 years old, presented to our General Medicine Unit with perniosis lesions on the feet during the first two waves of the coronavirus disease 2019 pandemic. They did not have respiratory or general symptoms of severe acute respiratory syndrome coronavirus 2 infection, the reverse transcription polymerase chain reaction on nasopharyngeal swabs was negative, and the serology was positive only in the first case. The clinical presentation differed for the two cases, as the second patient suffered from swelling and burning after cold application. The diagnosis was based on clinical presentation, temporality, exclusion of other differential diagnoses, and blood test results (positive serology in the first case and high level of CXCL13 and VEGF in the second), supported by current literature. Lesions resolved spontaneously in the first patient. The second case was hospitalized for pain management and received corticosteroid therapy with resolution of the symptoms. CONCLUSION: These two cases with different clinical presentations illustrate the diagnostic approach to coronavirus disease 2019, a challenging disease with diverse manifestations, including, in some cases, coronavirus disease toes. We present a literature review that illustrates the progression of scientific research. Skin lesions associated with coronavirus disease 2019 infection could be the expression of an important interferon type 1 response and should be considered in the differential diagnosis in a primary care setting.

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The cross sectional, analytic and descriptive type study was conducted among 5-10 years aged Bangladeshi children at different areas of Mymensingh District (Fulbaria, Trisal, Haluaghat, Fulpur and Muktagacha), Bangladesh on 109 Bangladeshi children from January 2016 to December 2016. Nonrandom purposive sampling technique was taken for sample collection. Any kind of foot deformity resulting either from physical injury or congenital anomaly was excluded to construct standard data. The present anthropometric study was designed to construct data of 5 to 10 years aged Bangladeshi children regarding great toe length, to measure correlation of stature with great toe length and comparison of great toe length between male and female children. This study has been made out to grow interest among the researchers for future study of different country. Stature of the subject was measured with the stadiometer and great toe length was measured using slide caliper. The children were requested to stand with weight distributed equally on both feet. The legs were perpendicular to the feet. The mean great toe length of both sides of 5, 6, 7, 8, 9 and 10 years aged male were 2.90±0.51 cm, 3.00±0.38 cm, 3.18±0.42 cm, 3.41±0.26 cm, 3.34±0.32cm and 3.57±0.45 cm respectively and those of female were 2.93±0.70 cm, 2.70±0.43 cm, 3.05±0.37 cm, 3.02±0.25 cm, 3.42±0.55 cm and 3.62±0.44 cm respectively. Great toe length showed non-significant positive correlation with stature in 5 years old female, 7 years old male and female, 8 years old male, 9 and 10 years old male and female children. In 5 years old male, 6 years old male and female and 8 years old female children, great toe length showed non-significant negative correlation with stature. Comparison of great toe length between male and female children was done by Unpaired Students 't' test which was statistically non-significant.

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BACKGROUND: Ingrown toenails are a common pathology. Although a range of conservative and surgical measures are widely used for this condition, little is known about their use in practice. This study explored current practice relating to the treatment or management of ingrown toenails by podiatrists in the UK. METHODS: A cross-sectional online survey (Qualtrics, Provo, UT, USA) conducted between March to June 2020 was distributed to practicing podiatrists treating or managing ingrown toenails in the UK. RESULTS: A total of 396 practicing podiatrists responded (60.1% based in the private sector). The majority (88.6%) performed nail surgery most commonly (54.3%) less than five a month. Nearly all (95%) only performed nail avulsion with or without chemical matrixectomy, universally using phenol (97.2%). Application time and number of applications varied but was most commonly applied three times (61.5%) for a total of 3 minutes (75%). Aftercare varied considerably between public and private sectors, with public sectors offering fewer follow-up appointments. CONCLUSIONS: Although there is a variation in clinical practice throughout the treatment pathway, almost all respondents offered nail avulsion with phenol matrixectomy, whereas very few provided incisional nail surgery. This data provides the most comprehensive description of how UK podiatrists conduct nail surgery for onychocryptosis.

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Predictive neuromuscular simulations are a powerful tool for studying the biomechanics of human walking, and deriving design criteria for technical devices like prostheses or biorobots. Good agreement between simulation and human data is essential for transferability to the real world. The human foot is often modeled with a single rigid element, but knowledge of how the foot model affects gait prediction is limited. Standardized procedures for selecting appropriate foot models are lacking. We performed 2D predictive neuromuscular simulations with six different foot models of increasing complexity to answer two questions: What is the effect of a mobile arch, a toe joint, and the coupling of toe and arch motion through the plantar fascia on gait prediction? and How much of the foot's anatomy do we need to model to predict sagittal plane walking kinematics and kinetics in good agreement with human data? We found that the foot model had a significant impact on ankle kinematics during terminal stance, push-off, and toe and arch kinematics. When focusing only on hip and knee kinematics, rigid foot models are sufficient. We hope our findings will help guide the community in modeling the human foot according to specific research goals and improve neuromuscular simulation accuracy.

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