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Cureus Mar 2023Syndactyly is one of the most common congenital upper extremity deformities. Syndactyly can be described as either simple, involving just the skin and soft tissue, or... (Review)
Review
Syndactyly is one of the most common congenital upper extremity deformities. Syndactyly can be described as either simple, involving just the skin and soft tissue, or complex, involving the phalanges. Additionally, syndactyly can be categorized as complete, involving the entire digit (including the nail fold), or incomplete, which does not involve the nail fold. Multiple familial or spontaneous genetic abnormalities can cause syndactyly, and these mutations typically involve the canonical wingless-type (WNT) pathway. Surgical repair of syndactyly is typically done between six to 18 months of age, depending on the type of syndactyly. Regardless of the classification of the syndactyly, the repair is performed before school-going age (except in the case of extremely mild or rare, extremely complex syndactyly). One or more imaging modalities are used to aid the surgeon in deciding the surgical approach for the syndactyly repair. The surgical plan must be clearly communicated with parents to manage expectations of aesthetics and function of the digits post-surgery. In brief, a syndactyly release surgery involves the creation of the web space using a geometrical design of the surgeon's choice, defatting of finger flaps, separation of the digits, and closure with absorbable sutures. However, the approach may vary depending on the patient. A "best" approach for rectifying the difference in surface area of separated versus fused digits has not yet been determined. While this was typically done using a skin graft, the use of alternative methods (most notably, using a synthetic dermal substitute or not using a graft at all and allowing the skin to heal with secondary intention) has been on the rise given the undesirable side effects of a graft. Less commonly, an external fixator can be used to expand soft tissue and skin. In the case of complete syndactyly, the Buck-Gramcko technique is most commonly used for nail flap reconstruction. Complications of the surgery include contracture, web creep, and the need for a second surgery. Thus, parents must be counseled in recognizing signs of complications.
PubMed: 36937133
DOI: 10.7759/cureus.36118 -
Balkan Medical Journal Sep 2023Although human leukocyte antigen (HLA) data for the Turkish population has been reported, there are no statistics on the HLA-DPB1 locus, which has recently received...
BACKGROUND
Although human leukocyte antigen (HLA) data for the Turkish population has been reported, there are no statistics on the HLA-DPB1 locus, which has recently received significant attention, particularly in hematopoietic stem cell transplantation. In addition, there is no study that has reported the 2-6 loci HLA haplotype distribution, 8-digit HLA allele frequency, and genotype frequency in the Turkish population.
AIMS
To evaluate the low and high resolution (2-4-8 digits) HLA-A, -B, -C, -DRB1, -DQB1, -DPB1 allele data using the data of 6100 healthy individuals from the Central Anatolian region of Turkey.
STUDY DESIGN
Retrospective cross-sectional study.
METHODS
All tests were performed using molecular HLA techniques: low-resolution DNA-based sequence-specific oligonucleotides, low/high-resolution DNA-based sequence-specific primer, and high-resolution next generation sequencing. A total of 6100 healthy donors with a minimum of 3 loci (HLA-A, -B, -DRB1) were analyzed for their HLA-A, -B, -C, -DRB1, -DQB1, and -DPB1 data. Pypop and HLA-net GENE[RATE] were used to analyze the data.
RESULTS
Among the HLA class I alleles, the following were the most frequently observed alleles: for HLA-A, , and ; for HLA-B, , and ; and for HLA-C, , and . Among the HLA class II alleles, the following alelles were the most frequently observed: for HLA-DRB1, , and ; for HLA-DQB1, , and ; and for HLA- DPB1, , and . The most common alleles among HLA-DPB1 in the 4-digit evaluation were DPB1*04:01, DPB1*02:01, and DPB1*04:02. Among the HLA classes I and II, the following were the most frequently observed 8-digit alleles in HLA-A, -B, -C, -DRB1, -DQB1 and -DPB1 were , and , respectively. The most common 6 loci haplotype was (2.71%).
CONCLUSION
In this study, low and high resolution HLA-DPB1 allele frequency, 6 locus haplotype frequency and genotype frequency were reported for the first time in Turkish population. These new data can be used to map HLA in our country and may provide ideas for potential future studies.
Topics: Humans; Haplotypes; Turkey; Alleles; Gene Frequency; Retrospective Studies; Cross-Sectional Studies; Genotype; Histocompatibility Antigens Class I; HLA-DRB1 Chains; HLA-A Antigens; DNA
PubMed: 37584525
DOI: 10.4274/balkanmedj.galenos.2023.2023-4-55 -
Plastic Surgery (Oakville, Ont.) Aug 2023Grip strength (GS) of the human hand is vital to deal with objects of various sizes and shapes in daily life. The strength deteriorates if one or more digits of the hand...
Grip strength (GS) of the human hand is vital to deal with objects of various sizes and shapes in daily life. The strength deteriorates if one or more digits of the hand are amputated. The main aim of this study was to determine the influence of single-digit exclusions on the GS. Healthy adults ( = 102, male) with an age range of 20 to 70 years (mean ± SD, 31.92 ± 13.14 years) participated in the study. The movements of unused digits were restrained using splints to avoid digit enslaving effects. T (Thumb), (I) Index, M (Middle), R (Ring), L (Little) digits were chosen for exclusion based on the digit configurations. The digit configurations were IMRL, MRLT, IMRT IRLT and, IMLT with exclusions T, I, L, M, and, R respectively. The results of two-way ANOVA with repeated measures showed no significant interaction ( = 0.923) between hand dominance and digit configurations. But statistical significance ( = 0.000) was observed in digit configurations and hand dominance individually. The results of posthoc analysis using Bonferroni corrected pairwise comparisons showed no statistical significance ( = 0.004) between IRLT and IMLT of both hands since the corrected -value was 0.003. The outcomes of the -test showed no statistical significance ( > 0.05) between the digit configurations IMRLT, IMRL; IMRL, MRLT; MRLT, IMRT; IRLT, IMLT individually within dominant (D) and non-dominant (ND) hands. When the -test was performed using the same digit configurations between both hands, statistical significance was not observed in all the configurations except IMLT ( < 0.05). The results of the Pearson correlation of GS were observed to be very strong between the same digit configurations of D and ND hands.
PubMed: 37654540
DOI: 10.1177/22925503211055523 -
Hand (New York, N.Y.) Jun 2023Digit amputations are relatively simple and are often performed in the setting of trauma or infection. However, it is not uncommon for digit amputations to undergo...
BACKGROUND
Digit amputations are relatively simple and are often performed in the setting of trauma or infection. However, it is not uncommon for digit amputations to undergo secondary revision due to complications or patient dissatisfaction. Identifying factors associated with secondary revision may alter treatment strategy. We hypothesize that the secondary revision rate is affected by digit, initial level of amputation, and comorbidities.
METHODS
A retrospective chart review was conducted on patients undergoing digit amputations in operating rooms at our institution from 2011 to 2017. Secondary revision amputations were defined as a separate return to the operating room following initial surgical amputation, excluding emergency room amputations. Patient demographics, comorbidities, level of amputation, and complications were collected.
RESULTS
In all, 278 patients were included with a total of 386 digit amputations and mean follow-up of 2.6 months. Three hundred twenty-six primary digit amputations were performed in 236 patients (group A). Sixty digits were secondarily revised in 42 patients (group B). The secondary revision rate was 17.8% for patients and 15.5% for digits. Patients with heart disease and diabetes mellitus were associated with secondary revision, with wound complications being the leading indication overall (73.8%). Medicare covered 52.4% of patients in group B versus 30.1% in group A ( = .005).
CONCLUSION
Risk factors for secondary revision include Medicare insurance, comorbidities, previous digit amputations, and initial amputation of either the index finger or the distal phalanx. These data may serve as a prediction model to aid surgical decision-making by identifying patients at risk of secondary revision amputation.
PubMed: 37269233
DOI: 10.1177/15589447231174480 -
Cerebral Cortex (New York, N.Y. : 1991) Aug 2022Previous studies aimed to unravel a digit-specific somatotopy in the primary sensorimotor (SM1) cortex. However, it remains unknown whether digit somatotopy is...
Previous studies aimed to unravel a digit-specific somatotopy in the primary sensorimotor (SM1) cortex. However, it remains unknown whether digit somatotopy is associated with motor preparation and/or motor execution during different types of tasks. We adopted multivariate representational similarity analysis to explore digit activation patterns in response to a finger tapping task (FTT). Sixteen healthy young adults underwent magnetic resonance imaging, and additionally performed an out-of-scanner choice reaction time task (CRTT) to assess digit selection performance. During both the FTT and CRTT, force data of all digits were acquired using force transducers. This allowed us to assess execution-related interference (i.e., digit enslavement; obtained from FTT & CRTT), as well as planning-related interference (i.e., digit selection deficit; obtained from CRTT) and determine their correlation with digit representational similarity scores of SM1. Findings revealed that digit enslavement during FTT was associated with contralateral SM1 representational similarity scores. During the CRTT, digit enslavement of both hands was also associated with representational similarity scores of the contralateral SM1. In addition, right hand digit selection performance was associated with representational similarity scores of left S1. In conclusion, we demonstrate a cortical origin of digit enslavement, and uniquely reveal that digit selection is associated with digit representations in primary somatosensory cortex (S1). Significance statement In current systems neuroscience, it is of critical importance to understand the relationship between brain function and behavioral outcome. With the present work, we contribute significantly to this understanding by uniquely assessing how digit representations in the sensorimotor cortex are associated with planning- and execution-related digit interference during a continuous finger tapping and a choice reaction time task. We observe that digit enslavement (i.e., execution-related interference) finds its origin in contralateral digit representations of SM1, and that deficits in digit selection (i.e., planning-related interference) in the right hand during a choice reaction time task are associated with more overlapping digit representations in left S1. This knowledge sheds new light on the functional contribution of the sensorimotor cortex to everyday motor skills.
Topics: Brain Mapping; Fingers; Humans; Magnetic Resonance Imaging; Reaction Time; Sensorimotor Cortex; Somatosensory Cortex; Young Adult
PubMed: 35029640
DOI: 10.1093/cercor/bhab452 -
Scientific Reports Apr 2021Recently, a number of authors have claimed that sexual dimorphism in the second-to-fourth digit ratio (2D:4D) is simply dependent on digit length and is an artifact of...
Recently, a number of authors have claimed that sexual dimorphism in the second-to-fourth digit ratio (2D:4D) is simply dependent on digit length and is an artifact of allometry. The goal of our study is to verify the validity of these assumptions. The study sample comprised 7,582 individuals (3,802 men and 3,780 women) from three large world populations: Europeans (n = 3043), East Africans (n = 2844), and Central Asians (n = 1695). The lengths of the second and fourth digits on both hands were measured. Digit ratios were computed according to standard procedures. Analyses were conducted separately for each hand for the whole sample and in succession for the three large populations. Additionally, we separately tested four age cohorts (≤ 13, 14-18, 19-30, and 31 ≥ years) to test the effect of developmental allometry. The second and fourth digits showed strong positive linear relationships on both hands, and demonstrated an increase with age; digit length in women from the youngest age cohort was longer or equal to that of men, and shorter than men in older age cohorts. However, the 2D:4D magnitude and its sexual dimorphism remained stable throughout the ontogeny. To test for an allometric effect on 2D:4D, the average digit lengths were calculated. Both sex and population origin were permanent reliable predictors of 2D:4D, whereas average digit length was not. Height was applied as another measure of allometric effect on the limited sample (≤ 30 years) from the European population, along with sex and age. No allometric effect was observed in this case. We conclude that sex differences in 2D:4D are not an artifact of allometry.
Topics: Adolescent; Adult; Africa, Eastern; Age Factors; Aged; Aged, 80 and over; Asia, Central; Body Height; Child; Child, Preschool; Cross-Sectional Studies; Europe; Female; Fingers; Humans; Male; Middle Aged; Sex Characteristics; Young Adult
PubMed: 33854119
DOI: 10.1038/s41598-021-87394-6 -
Yi Chuan = Hereditas Dec 2019Brachydactyly (BD) is a type of hand/foot malformation caused by the abnormal shortening or missing phalanges and/or metacarpals/metatarsals. BD most often occurs as an... (Review)
Review
Brachydactyly (BD) is a type of hand/foot malformation caused by the abnormal shortening or missing phalanges and/or metacarpals/metatarsals. BD most often occurs as an isolated trait, but can also occur as part of complex malformation syndromes. According to the patterns of affected digits, isolated BD can be divided into five groups: BDA, BDB, BDC, BDD, and BDE with individual subtypes. As an important molecular disease family, the pathogenic genes and molecular mechanisms of most isolated BD forms and some complicated syndromes are elucidated. Although BDs are highly diversified in phenotypes, at the molecular levels these pathogenic genes mainly affect several important signaling pathways: Hedgehog, NOTCH, WNT and BMP. These pathways form a complex signaling network and play different roles in different stages of the digit and joint development, in which BMP signaling pathway occupies a central position. Based on the current classification of BDs, this review summarizes the latest progress in the pathogenesis of BDs and the signaling pathways involved. The purpose of this review is to explore the molecular mechanisms of digit formation, which will provide references for the clinical diagnosis of BD, and the understanding of molecular mechanism of human bone development.
Topics: Body Patterning; Brachydactyly; Embryonic Development; Humans; Phenotype
PubMed: 31857279
DOI: 10.16288/j.yczz.19-100 -
Human Movement Science Oct 2022In the referent control theory, grip force emerges by designating the referent aperture (R) as a threshold position inside the object. This study quantified R and...
In the referent control theory, grip force emerges by designating the referent aperture (R) as a threshold position inside the object. This study quantified R and investigated whether the synergistic control of digit referent coordinate (RC) and apparent stiffness (k) depend on the external mechanical constraints on the hand-held object. Subjects held a motorized handle capable of adjusting the grip width and performed static multi-digit prehension tasks in which the handle was free and externally fixed in different conditions. The RC and k of individual digits were reconstructed from the changes in digit normal forces and the positions as the grip width was modulated. RCs of the thumb and virtual finger were used to calculate the width and midpoint of R, and synergy indices quantifying the task-specific covariation in the space of the digit normal forces and {RC, k} variables were computed. We found that the k and width of the R were larger when holding a free handle than the fixed handle. The higher stiffness in the free condition could be a strategy to ensure grip stability. The midpoint of R was skewed toward the virtual finger, reflecting different magnitudes of k for the two digits. Further, the normal forces and control variables {RC, k} displayed synergistic covariation for stabilization of the total grasping force. Finally, the synergies were weaker when the handle was externally fixed, demonstrating the dependence of synergies on external constraints. These results add to the current literature by demonstrating that grasp control involves modulation of digit apparent stiffness in addition to the referent coordinate and by identifying the synergistic organization of the control variables during static grasp.
Topics: Fingers; Hand Strength; Humans; Movement; Psychomotor Performance; Thumb
PubMed: 35986961
DOI: 10.1016/j.humov.2022.102994 -
Attention, Perception & Psychophysics May 2024The link between various codes of magnitude and their interactions has been studied extensively for many years. In the current study, we examined how the physical and...
The link between various codes of magnitude and their interactions has been studied extensively for many years. In the current study, we examined how the physical and numerical magnitudes of digits are mapped into a combined mental representation. In two psychophysical experiments, participants reported the physically larger digit among two digits. In the identical condition, participants compared digits of an identical value (e.g., "2" and "2"); in the different condition, participants compared digits of distinct numerical values (i.e., "2" and "5"). As anticipated, participants overestimated the physical size of a numerically larger digit and underestimated the physical size of a numerically smaller digit. Our results extend the shared-representation account of physical and numerical magnitudes.
Topics: Humans; Size Perception; Pattern Recognition, Visual; Male; Female; Young Adult; Judgment; Psychophysics; Adult; Attention; Discrimination, Psychological
PubMed: 38639857
DOI: 10.3758/s13414-024-02875-w -
The Journal of Hand Surgery Oct 2020Macrodactyly is a rare, nonhereditary congenital deformity. Digital enlargement in macrodactyly involves all tissue types and presents alone or as part of a congenital...
PURPOSE
Macrodactyly is a rare, nonhereditary congenital deformity. Digital enlargement in macrodactyly involves all tissue types and presents alone or as part of a congenital deformity syndromes. Macrodactyly treatment largely depends on surgeons' experience and knowledge. Because there is a paucity of large cohort studies of macrodactyly in the literature, our goal was to retrospectively analyze macrodactyly cases in order to define a better system for diagnosis, classification, and prognosis.
METHODS
Medical records of 90 Chinese macrodactyly patients, including demographic characteristics, clinical presentations, anatomical distributions, x-rays, pathological findings, and treatments, were reviewed. Genetic analyses of 12 patients were also reviewed.
RESULTS
Disease incidence was similar across sex and geographical regions. Multiple-digit involvement was 2.6 times more frequent than single-digit involvement. The index finger, middle finger, and thumb were most commonly involved. Two digits were affected more often than 3, with the affected digits adjacent in most cases. The affected digit was in the median nerve innervation distribution in 79% of cases and was accompanied by enlargement and fat infiltration of the median nerve. Seven cases had syndactyly. Ten of the 12 cases subjected to PIK3CA mutation analysis were positive.
CONCLUSIONS
Macrodactyly represents a heterogeneous group of conditions, without significant sex or geographical predilection, which is usually present at birth. A high PIK3CA mutation-positive rate in affected tissues suggests a similar cellular mechanism for overgrowth in patients with various clinical presentations.
TYPE OF STUDY/LEVEL OF EVIDENCE
Prognostic IV.
Topics: Fingers; Humans; Infant, Newborn; Limb Deformities, Congenital; Retrospective Studies; Syndactyly
PubMed: 32299688
DOI: 10.1016/j.jhsa.2020.03.002