Additions to Philippine slender skinks of the Brachymeles bonitae complex (Reptilia: Squamata: Scincidae) IV: Resurrection and redescription of Brachymeles burksi

The diversity of Philippine amphibians and reptiles has increased over the last few decades, in part due to re-evaluation of species formerly believed to be widespread. Many of these investigations of widespread species have uncovered multiple closely related cryptic lineages comprising species complexes, each restricted to individual Pleistocene Aggregate Island Complexes (PAICs). One group in particular for which widespread cryptic diversity has been common is the clade of Philippine skinks of the genus Brachymeles. Recent phylogenetic studies of the formerly recognized widespread species Brachymeles bonitae have indicated that this species is actually a complex distributed across several major PAICs and smaller island groups in the central and northern Philippines, with numerous species that exhibit an array of digit loss and limb reduction patterns. Despite the recent revisions to the B. bonitae species complex, studies suggest that unique cryptic lineages still exist within this group. In this paper, we resurrect the species Brachymeles burksi Taylor 1917, for a lineage of non-pentadactyl, semi-fossorial skink from Mindoro and Marinduque islands. First described in 1917, B. burksi was synonymized with B. bonitae in 1956, and has rarely been reconsidered since. Evaluation of genetic and morphological data (qualitative traits, meristic counts, and mensural measurements), and comparison of recently-obtained specimens to Taylor’s original description support this species’ recognition, as does its insular distribution on isolated islands in the central portions of the archipelago. Morphologically, B. burksi is differentiated from other members of the genus based on a suite of unique phenotypic characteristics, including a small body size, digitless limbs, a high number of presacral vertebrae, the absence of auricular openings, and discrete (non-overlapping) meristic scale counts. The recognition of this central Philippine species further increases the diversity of non-pentadactyl members of the B. bonitae complex, and reinforces the biogeographic uniqueness of the Mindoro faunal region. KEYWORDS: biodiversity, endemism, faunal region, fossoriality, limb reduction

Home Intervention for Children with Unilateral Upper Limb Reduction Deficiencies

Purpose: Current training interventions assessing pediatric functional motor skills do not account for children with upper limb reductions who utilize a prosthetic device. It was hypothesized that a newly created 8-week Home Intervention program will result in significant improvements in gross manual dexterity, bimanual coordination, and the functional activities performed during the program. It was also hypothesized that the newly developed Prosthesis Measurement of Independent Function (PMIF) score will reflect the Home Intervention performance improvements. Methods: Five pediatric participants (ages 5-19 years) with congenital upper limb reductions were fitted with a 3D printed upper extremity prosthesis for their affected limb. Participants then completed the 8-week Home Intervention which included Training activities completed 2x/week for 8 weeks and Non-Training activities completed only at week 1 and week 8. Participant’s times were recorded along with each participant receiving a PMIF score ranging from 0 = unable to complete activity, to 7 = complete independence with activity completion. Results: Results showed a decrease in overall averaged activity times amongst all activities. For all activities performed, individual averaged time decreased with the exception of Ball Play which increased over the 8 week intervention period. There was significant interaction for home intervention performance with F = 2.904 (p = 0.003). All participants increased their PMIF scores to 7 (complete independence) at the end of the 8 week intervention period. Conclusion: Decreases in time averages and increases in PMIF scores quantitatively showed that the home intervention program facilitate improvements in function and independence.

Changes in Sensorimotor Cortical Activation in Children Using Prostheses and Prosthetic Simulators

This study aimed to examine the neural responses of children using prostheses and prosthetic simulators to better elucidate the emulation abilities of the simulators. We utilized functional near-infrared spectroscopy (fNIRS) to evaluate the neural response in five children with a congenital upper limb reduction (ULR) using a body-powered prosthesis to complete a 60 s gross motor dexterity task. The ULR group was matched with five typically developing children (TD) using their non-preferred hand and a prosthetic simulator on the same hand. The ULR group had lower activation within the primary motor cortex (M1) and supplementary motor area (SMA) compared to the TD group, but nonsignificant differences in the primary somatosensory area (S1). Compared to using their non-preferred hand, the TD group exhibited significantly higher action in S1 when using the simulator, but nonsignificant differences in M1 and SMA. The non-significant differences in S1 activation between groups and the increased activation evoked by the simulator’s use may suggest rapid changes in feedback prioritization during tool use. We suggest that prosthetic simulators may elicit increased reliance on proprioceptive and tactile feedback during motor tasks. This knowledge may help to develop future prosthesis rehabilitative training or the improvement of tool-based skills.

Comparative Genomics Identifies Putative Interspecies Mechanisms Underlying Crbn-Sall4-Linked Thalidomide Embryopathy

The identification of thalidomide–Cereblon-induced SALL4 degradation has brought new understanding for thalidomide embryopathy (TE) differences across species. Some questions, however, regarding species variability, still remain. The aim of this study was to detect sequence divergences between species, affected or not by TE, and to evaluate the regulated gene co-expression in a murine model. Here, we performed a comparative analysis of proteins experimentally established as affected by thalidomide exposure, evaluating 14 species. The comparative analysis, regarding synteny, neighborhood, and protein conservation, was performed in 42 selected genes. Differential co-expression analysis was performed, using a publicly available assay, GSE61306, which evaluated mouse embryonic stem cells (mESC) exposed to thalidomide. The comparative analyses evidenced 20 genes in the upstream neighborhood of NOS3, which are different between the species who develop, or not, the classic TE phenotype. Considering protein sequence alignments, RECQL4, SALL4, CDH5, KDR, and NOS2 proteins had the biggest number of variants reported in unaffected species. In co-expression analysis, Crbn was a gene identified as a driver of the co-expression of other genes implicated in genetic, non-teratogenic, limb reduction defects (LRD), such as Tbx5, Esco2, Recql4, and Sall4; Crbn and Sall4 were shown to have a moderate co-expression correlation, which is affected after thalidomide exposure. Hence, even though the classic TE phenotype is not identified in mice, a deregulatory Crbn-induced mechanism is suggested in this animal. Functional studies are necessary, especially evaluating the genes responsible for LRD syndromes and their interaction with thalidomide–Cereblon.

Use-Dependent Prosthesis Training Strengthens Contralateral Hemodynamic Brain Responses in a Young Adult With Upper Limb Reduction Deficiency: A Case Report

The purpose of the current case study was to determine the influence of an 8-week home intervention training utilizing a partial hand prosthesis on hemodynamic responses of the brain and gross dexterity in a case participant with congenital unilateral upper-limb reduction deficiency (ULD). The case participant (female, 19 years of age) performed a gross manual dexterity task (Box and Block Test) while measuring brain activity (functional near-infrared spectroscopy; fNIRS) before and after an 8-weeks home intervention training. During baseline, there was a broad cortical activation in the ipsilateral sensorimotor cortex and a non-focalized cortical activation in the contralateral hemisphere, which was non-focalized, while performing a gross manual dexterity task using a prosthesis. After the 8-week home intervention training, however, cortical activation shifted to the contralateral motor cortex while cortical activation was diminished in the ipsilateral hemisphere. Specifically, the oxygenated hemodynamics (HbO) responses increased in the medial aspects of the contralateral primary motor and somatosensory cortices. Thus, these results suggest that an 8-week prosthetic home intervention was able to strengthen contralateral connections in this young adult with congenital partial hand reduction. This was supported by the case participant showing after training an increased flexor tone, increased range of motion of the wrist, and decreased times to complete various gross dexterity tasks. Changes in HbO responses due to the home intervention training follow the mechanisms of use-dependent plasticity and further guide the use of prostheses as a rehabilitation strategy for individuals with ULD.

Opinions on rehabilitation care of young adults with transversal upper limb reduction deficiency in their transition to adulthood

PURPOSE: Young adults with transversal upper limb reduction deficiency experience limitations regarding education, employment and obtaining a driver’s license. Contribution of rehabilitation care within these domains has been reported to be inadequate. This study evaluates the needs and suggestions of participants in rehabilitation care. METHODS: Two online focus groups with young adults and parents met during 4 consecutive days. Health care professionals joined a face-to-face focus group. Data analysis was based on framework analysis. RESULTS: The rehabilitation team was mainly consulted for problems with residual limb or for prostheses. Young adults and their parents were mostly unaware of resources regarding education, job selection or obtaining a driver’s license. Professionals stated that these subjects were addressed during periodic appointments. Young adults didn’t always attend these appointments due to limited perceived benefit. To improve rehabilitation care, participants suggested methods for providing relevant information, facilitating peer contact and offering dedicated training programs to practice work-related tasks, prepare for job interviews or enhance self-confidence. CONCLUSION: Periodic appointments do not fulfil needs of young adults with transversal upper limb reduction deficiency. To improve care, rehabilitation teams should offer age-relevant information, share peer stories, and create dedicated training programs.

Maternal Risk Factors Associated with Limb Reduction Defects: Data from the Polish Registry of Congenital Malformations (PRCM)

Data from the Polish Registry of Congenital Malformations (PRCM) suggest that the prevalence of limb reduction defects (LRDs) in some Polish regions is significantly higher in comparison to that reported in the European Surveillance of Congenital Anomalies (EUROCAT) registry, but specific risk factors are still unknown. The objectives of this study were two-fold: to detect risk factors linked to isolated LRDs among Polish natives and to search for geospatial clusters of isolated LRDs to identify high-risk areas across the country. Among the 2,939,001 births accounted for in the PRCM, we determined that there were 852 children with distinct LRDs. Our data demonstrate that lower birth weight, prematurity, and maternal smoking history are strongly associated with isolated LRDs. Furthermore, our investigation pointed to various additional risk factors for isolated LRDs, including paternal education, gestational hypertension, upper respiratory tract infections, and exposure to anti-inflammatory drugs in the first trimester of pregnancy. We did not recognize statistically significant spatial or spatiotemporal clusters over the area of Poland using Kulldorff’s scan. Our study strengthens the hypothesis that maternal factors have an integral role in the etiology of isolated LRDs.