Arm Segments Research Articles

Chromosomal Density of Cancer Up-Regulated Genes, Aberrant Enhancer Activity and Cancer Fitness Genes Are Associated with Transcriptional Cis-Effects of Broad Copy Number Gains in Colorectal Cancer.

Broad Copy Number Gains (BCNGs) are copy-number increases of chromosomes or large segments of chromosomal arms. Publicly-available single-nucleotide polymorphism (SNP) array and RNA-Seq data of colon adenocarcinoma (COAD) samples from The Cancer Genome Atlas (TCGA) consortium allowed us to design better control groups in order to identify changes in expression due to highly recurrent BCNGs (in chromosomes 20, 8, 7, 13). We identified: (1) Overexpressed Transcripts (OverT), transcripts whose expression increases in “COAD groups bearing a specific BCNG” in comparison to “control COAD groups” not bearing it, and (2) up-regulated/down-regulated transcripts, transcripts whose expression increases/decreases in COAD groups in comparison to normal colon tissue. An analysis of gene expression reveals a correlation between the density of up-regulated genes per selected chromosome and the recurrence rate of their BCNGs. We report an enrichment of gained enhancer activity and of cancer fitness genes among OverT genes. These results support the hypothesis that the chromosomal density of overexpressed cancer fitness genes might play a significant role in the selection of gained chromosomes during cancer evolution. Analysis of functional pathways associated with OverT suggest that some multi-subunit protein complexes (eIF2, eIF3, CSTF and CPSF) are candidate targets for silencing transcriptional therapy.

Baseball Pitchers’ Kinematic Sequences and Their Relationship to Elbow and Shoulder Torque Production

Objectives:Ball velocity is generated during the overhead baseball pitch via efficient force transmission up the kinetic chain, from the lower body up and outward to the throwing hand. The kinematic sequence, or the sequential timing pattern of peak angular velocities of body segments during a pitch, provides insight to segment position and motion control that drives the kinetic chain (Putnam CA, 1993). Previous publications report an ideal kinematic sequence (KS) where the timing of each body segment’s peak angular velocity occurs in a proximal-to-distal (PDS) pattern resulting in greater ball velocity and reduction in throwing arm injury risk (Fortenbaugh D, et.al, 2009). A recent study revealed that baseball pitchers perform a variety of KSs (Scarborough DM et.al, 2018). There is no known investigation of the relationship of kinematic sequences and throwing arm joint torques. The purpose of this study was to 1) identify the number of different KSs performed by each pitcher and 2) compare elbow valgus and shoulder external rotation (ER) and extension (Ext) torques between the 3 primary KSs performed during the fastball pitch.Methods:Fourteen collegiate baseball pitchers (20.57 ± 1.91 yr) underwent 3D biomechanical pitch analysis using 20 motion-capture Vicon MX™ cameras (360 Hz). A total of 119 fastball pitches with an average of 8.5 ± 2.71 pitches per player were analyzed. Elbow valgus and shoulder external rotation and extension torques were calculated. The timing of peak angular velocities for the pelvis, trunk, arm, forearm and hand body segments were recorded to generate each pitch’s KS. KSs were then divided into groups based on similarities to the ideal PDS pattern. ANCOVA statistical analyses were performed to compare joint torques across these KS groups with ball velocity as a covariate.Results:A total of 13 different KSs were observed across the 14 pitchers resulting in an average of 3 ± 1.41 different KSs per pitcher. Three different primary KS groups were identified: (1) PDS group: with a KS closest to the ideal PDS pattern (2) the Altered Distal Upper Extremity segment: with the forearm peaking after the hand (the most common group) and (3) Altered Proximal Upper Extremity segment order with the arm segment peaking after the hand (2nd most common). Across these three primary KS patterns, statistically significant differences were noted for elbow valgus torque [F(62,2) = 8.785, ɳ2 = .221, p < 0.00], shoulder external rotation (ER) torque [F(62,2) = 14.127, ɳ2 = .313, p < 0.00] and shoulder extension (Ext) torque [F(62,2) = 13.237, ɳ2 = .299, p < 0.00] (Figure 1).Conclusion:Our findings demonstrate that collegiate baseball pitchers performed an average of 3 different kinematic sequence patterns during fastball pitching. This is the first study to demonstrate a relationship between KSs and elbow and shoulder torque production. As anticipated, the PDS KSs produced the least torque across the elbow and shoulder joints. Alterations in Distal Upper Extremity KS was most common and generated the greatest shoulder Ext torques. Alterations in the Proximal Upper Extremity KS demonstrated the greatest elbow valgus and shoulder ER. Further study of the influence of kinematic sequence on joint torques in the baseball pitch may provide insight into pitching injuries and injury avoidance programs.

Induced Power Analysis Of Sequential Body Motion And Elbow Valgus Load During Baseball Pitching

The flow of mechanical energy of segmental motion provides a mechanism by which the throwing arm is accelerated during baseball pitching. Muscles can indirectly influence the energy level of distal segments to which they are not attached by way of the interaction torques transferring energy up the kinetic chain. No study to date, however, has addressed these causal components of mechanical power, specifically in relation to valgus loading at the elbow, which is prone to pitching-related injuries. PURPOSE: To determine the components of muscle and velocity-dependent torques that contribute to the power of throwing arm segments when the elbow is under valgus load during pitching. METHODS: The throwing motions of 10 adult pitchers (age = 22.9 ± 4.1 years, height = 1.87 ± 4.93 m, and mass = 86.5 ± 7.4 kg) were biomechanically measured using 3D motion capture after written informed consents were provided by the participants. The resulting kinematic and kinetic data were included in a state-space power analysis using a 10-DOF model. The contributions of the torque-induced components to the mechanical work of the forearm were determined by integrating the power curves in time between the instants of front foot contact (FC) and maximum external rotation (MER) of the throwing shoulder. RESULTS: Pitchers threw with a maximum elbow valgus torque of 70.1 ± 2.2 N•m. The trunk flexion (r1) and rotation (r3) components of the muscle-induced torque were the greatest positive contributors to the work of the forearm. Muscle torques contributed a total of 44.5 ± 23.4 J while velocity-dependent torques absorbed 69.6 ± 37.1 J, representing 61% of the total work (114.1 J) of the distal arm segments during the arm-cocking phase (Figure 1). CONCLUSIONS: Trunk motion in the early part of the arm-cocking phase appears to drive the power of accelerating the throwing elbow in valgus via velocity-dependent torques.

Action of Ultrasound Therapy in Altering Motor Nerve Conduction Velocity of Ulnar Nerve

Ultrasound therapy is one of the commonest and most popular modality used for tissue healing, pain reduction, tissue extensibility and in inflammation by physiotherapists all around the globe. Various sensitivity tests on peripheral nerves are done with ultrasound therapy, yet conclusions are still skeptical, which makes it inconclusive in progressing the modality further into management of nerve disorders. This study aimed to analyze efficiency of therapeutic ultrasound in influencing ulnar nerve conduction velocity. To Analyze the effect of ultrasound therapy in altering motor nerve conduction velocity of ulnar nerve with two therapeutic frequencies. 40 healthy individuals were included according to the selection criteria and they were explained about safety and simplicity of procedure and informed consent was obtained. All the participants were randomly assigned into two groups as 20 in each group. Group-A was given ultrasound therapy at specific site of elbow to target the ulnar nerve with 1MHz frequency and Group–B followed the same procedure with 3MHz frequency. Pre and Post to ultrasound therapy application Motor Nerve Conduction Velocity (MNCV) of ulnar nerve were recorded for both the groups. The posttest mean of MNCV for forearm segment and arm segment for Group A and Group B showed statistically significant difference (P Value &lt;0.001).The analysis done by the statistical data also revealed that the MNCV at forearm segment showed an increase in velocity compared to its pretest values, whereas the post MNCV values at arm component showed a decrease in velocity when compared to its pretest values. Among comparison the data within the groups it is evident that group A with 1 MHz of ultrasound sonification is more capable of altering the MNCV values in comparison with the 3MHz. frequency. Findings of this study conclude that ultrasound therapy can be used effectively in altering conduction velocity of a nerve and it has a potential ability to facilitate or inhibit a nerve physiological function.

Dense gas is not enough: environmental variations in the star formation efficiency of dense molecular gas at 100 pc scales in M 51

It remains unclear what sets the efficiency with which molecular gas transforms into stars. Here we present a new VLA map of the spiral galaxy M 51 in 33 GHz radio continuum, an extinction-free tracer of star formation, at 3″ scales (∼100 pc). We combined this map with interferometric PdBI/NOEMA observations of CO(1–0) and HCN(1–0) at matched resolution for three regions in M 51 (central molecular ring, northern and southern spiral arm segments). While our measurements roughly fall on the well-known correlation between total infrared and HCN luminosity, bridging the gap between Galactic and extragalactic observations, we find systematic offsets from that relation for different dynamical environments probed in M 51; for example, the southern arm segment is more quiescent due to low star formation efficiency (SFE) of the dense gas, despite its high dense gas fraction. Combining our results with measurements from the literature at 100 pc scales, we find that the SFE of the dense gas and the dense gas fraction anti-correlate and correlate, respectively, with the local stellar mass surface density. This is consistent with previous kpc-scale studies. In addition, we find a significant anti-correlation between the SFE and velocity dispersion of the dense gas. Finally, we confirm that a correlation also holds between star formation rate surface density and the dense gas fraction, but it is not stronger than the correlation with dense gas surface density. Our results are hard to reconcile with models relying on a universal gas density threshold for star formation and suggest that turbulence and galactic dynamics play a major role in setting how efficiently dense gas converts into stars.

Using Computer Simulation to Investigate Which Joint Angle Changes Have the Most Effect on Ball Release Speed in Overarm Throwing

Efficient throwing mechanics is predicated on a pitcher’s ability to perform a sequence of movements of body segments, which progresses from the legs, pelvis, and trunk to the smaller, distal arm segments. Each segment plays a vital role in achieving maximum ball velocity at ball release. The perturbation of one joint angle has an effect on the ball release speed. An eight-segment angle-driven simulation model of the trunk, upper limbs and ball was developed to determine which joint angle changes have the most influence on ball release speed in overarm throwing for an experienced pitcher. Fifteen overarm throwing trials were recorded, and the joint angle time histories of each trial were input into the simulation model. Systematically replacing each joint angle time history with a constant value showed that overarm throwing was sensitive (≥5 m/s effect on ball release speed) to trunk extension/flexion and upper arm external/internal rotation, and very sensitive (≥10 m/s effect) to forearm extension/flexion. Computer simulation allows detailed analysis and complete control to investigate contributions to performance, and the key joint angle changes for overarm throwing were identified in this analysis.

Tollgate-based progression pathways of ALS patients.

To capture ALS progression in arm, leg, speech, swallowing, and breathing segments using a disease-specific staging system, namely tollgate-based ALS staging system (TASS), where tollgates refer to a set of critical clinical events including having slight weakness in arms, needing a wheelchair, needing a feeding tube, etc. METHODS: We compiled a longitudinal dataset from medical records including free-text clinical notes of 514 ALS patients from Mayo Clinic, Rochester-MN. We derived tollgate-based progression pathways of patients up to a 1-year period starting from the first clinic visit. We conducted Kaplan-Meier analyses to estimate the probability of passing each tollgate over time for each functional segment. At their first clinic visit, 93%, 77%, and 60% of patients displayed some level of limb, bulbar, and breathing weakness, respectively. The proportion of patients at milder tollgate levels (tollgate level < 2) was smaller for arm and leg segments (38% and 46%, respectively) compared to others (> 65%). Patients showed non-uniform TASS pathways, i.e., the likelihood of passing a tollgate differed based on the affected segments at the initial visit. For instance, stratified by impaired segments at the initial visit, patients with limb and breathing impairment were more likely (62%) to use bi-level positive airway pressure device in a year compared to those with bulbar and breathing impairment (26%). Using TASS, clinicians can inform ALS patients about their individualized likelihood of having critical disabilities and assistive-device needs (e.g., being dependent on wheelchair/ventilation, needing walker/wheelchair or communication devices), and help them better prepare for future.

Does the examiner's experience matter in evaluation of the kinematics of the upper limb?

This study aimed to evaluate test and retest reliability according to examiner experience with the three-dimensional kinematics of the trunk, scapula, and arm segments during flexion and unilateral abduction of the arm. Ten men and 10 women (mean age, 25.1 [1.1] years) participated in this study. Each volunteer participated in six test sessions, four on the first day (two for each examiner) and two on the second day (one for each examiner). A 48-h interval was given between test days. The assessments were made by one examiner with movement analysis experience and a second examiner without experience. For each session (intra-day), the volunteers performed five repetitions of unilateral arm flexions and abductions using their dominant arms. After 1 h, the data were re-collected and all markers were replaced. Data from the trunk, scapula, and arm were analysed at 30°, 60°, 90°, and 120° of arm flexion and abduction using intraclass coefficient correlation, standard error of the measurement, and analysis of variance. The results did not differ between the experienced and inexperienced examiners except for trunk axial rotation at all studied angles and for arm rotation at 120° of abduction. The examiner previously trained in movement analysis marker placement demonstrated the same intra-tester reliability as the inexperienced tester when marker placement accuracy was the variable of interest.

Manual Lymph Drainage as a Complex Decongestive Therapy for Upper Limb Lymphedema After Breast Cancer Operation

Objective We aim to explore the clinical effect of manual lymph drainage as a complex decongestive therapy on improving upper limb lymphedema after breast cancer operation. Methods Manual lymph drainage was performed on 28 patients with lymphedema after receiving breast cancer operation. Circumference measurement was done at transverse palmar crease, transverse carpal crease, 10cm below transverse cubital crease, 10 cm above transverse cubital crease and 20 cm above transverse cubital crease at the first day before treatment and 1 day, 1 week, 2 weeks and 3 weeks after treatment. The movement of shoulder joints, pain and numbness of patients were recorded. Results After 3 weeks of manual lymph drainage, the circumference at transverse palmar crease, transverse carpal crease, 10cm below transverse cubital crease, 10 cm above transverse cubital crease and 20 cm above transverse cubital crease was significantly lower than that before treatment. The detumescence of the middle segment of forearm (10 cm below transverse cubital crease) was better than that of the middle segment of upper arm (10 cm above transverse cubital crease) and the superior segment of upper arm (20 cm above transverse cubital crease) with a significant difference (P<0.05). After the treatment of manual lymph drainage, the life quality of patients improved greatly and there was a significant difference (P<0.05). Conclusion Manual lymph drainage as a complex decongestive therapy for lymphedema after breast cancer operation is safe, effective and thus well worth clinical application.

A Rare Chromosome 18p Deletion Syndrome in Abha City: A Case Study

Background: The 18p deletion disorder is a chromosomal condition due to the absence or deletion of a short arm or all the chromosome. The symptoms and signs vary among patients which may include mental and post-natal growth retardation that ranged from moderate to severe. The cause of 18p deletion among 85% of cases is due to de novo deletions and unwarranted hereditary transmission of structural rearrangements among the rest of cases. Case presentation: A 16-years-old male was presented with dysmorphic features and refereed for chromosomal analysis. He was born full term by vacuum assisted vaginal delivery with a birth weight of 4.5 kg with no gestational complications. His gestation was without any complication. The pre-natal ultrasound showed vesico-urethral reflux on the left side and hypocalcemia. He had speech delay at 11 months, alopecia areata at 13-years-old and at age of 14-yearsold was diagnosed with celiac disease. The MRI brain showed normal brain and chromosomal analysis for dysmorphic features showed brachycephaly, ptosis, squint (intorsion). The study revealed Deletion of a segment of the short arm of chromosome 18 at a breakpoint 18p11.2 band. Chromosomal analysis was of patient’s mother revealed normal karyotype 46-XX. Conclusion: This case is quite variable than other studies reported in literature as that patient showed mild dysmorphic features with normal brain function. The clinical presentation is associated with 18p deletion which need further diagnosis and essential management as the symptoms vary regarding the quantity of chromosomal loss.

휠체어 농구 투 핸드 3점 슛 동작 시 성공과 실패에 따른 운동학적 비교분석

The purpose of this study is to comparatively analyze the kinematic variables such as how long it takes in each phase, the CM(center of mass) displacement, CM velocity and body segment angles for when a three point shoot by wheelchair basketball players succeed or fail. The conclusion based on the experiment results are as follows.BR First, there was no significant difference in the time it took for each phase of a three point shoot whether it was a success or failure. Second, there were no significant differences in the upper arm segmentation, fore arm segmentation, hand segmentation, the ball was left and right of position, horizontal of position and vertical of position whether the three point shoot was a success or failure. However, the mean of the position in the front and back of the hand segmentation showed a higher position change in the second phase in cases of failure. As for the change in position from left to right, the mean value saw no change in the second phase in cases of success, but success cases saw a higher change in position in the third phase.BR Third, there was no significant differences in the upper arm segmentation, fore arm segmentation or the velocity of the ball whether it was a success or failure, but the mean value for a success case was faster in the third phase. Fourth, there were no significant differences in the shoulder joints, elbow joints, wrist joints or projection angle whether it was a success or a failure, but the mean value of the projection angle in the success case was lower.

Pianism: performance communication and the playing technique

A pianist’s movements are fundamental to music-making by producing the musical sounds and the expressive movements of the trunk and arms which communicate the music’s structural and emotional information making it valuable for this review to examine upper-body movement in the performance process in combination with the factors important in skill acquisition. The underpinning playing technique must be efficient with economic muscle use by using body segments according to their design and movement potential with the arm segments mechanically linked to produce coordinated and fluent movement. Two physiologically and pianistically important actions proposed by early music scientists to deliver the keystroke involve dropping the hand from the shoulders towards the keys via a wave action with the joints activated sequentially, and forearm rotation to position the fingers for the keystroke, an action followed by the elbow/upper-arm rotating in the opposite direction. Both actions spare the forearm muscles by generating the energy needed in the larger shoulder muscles. The hand in the playing position has a curved palm through action of the metacarpal (knuckle) joints and curved fingers. Palm/finger posture controls sound quality from loud, high tempo sounds to a more mellow legato articulation, and to perform effectively the forearms should slope down towards the keyboard. The technique must be automatic through systematic practice which develops the motor skills for proficient playing, with practice duration tempered to reduce the risk of causing injury through overuse of the forearm muscles. Efficient movement patterns and strategic muscle relaxation which results in faster movement are realized only through extensive training. The constant movements of the head and trunk, and flowing arm movement with frequent hand lifts and rotational elbow movements, although generated in producing the playing technique, resonate with audience members who perceive them as expressive and thereby creating in them an empathic engagement with the music. It was proposed that music students be trained in the mechanical aspects of upper-body use in the playing technique, and practice strategies, with specialist pedagogy for children to develop motor skills for efficient playing, and training methods fostering an appreciation of the communicative aspects of music performance.

Facile Synthesis and Topological Transformation of Multicomponent Miktoarm Star Copolymers.

Multicomponent miktoarm stars (MMSs) comprising at least three kinds of chemically different arm segments are extremely important due to their great potential as multiphase materials to elucidate composition/topology-dependent properties and applications. At present, a "core first" route gives ABC stars, "coupling onto" and combinatorial methods afford ABC and ABCD stars, and modular and iterative approaches enable facile synthesis of MMSs with five or more components. Meanwhile, the introduction of stimuli-labile linkages and couplable groups into star polymers further enriches the family of smart materials. Upon external stimuli, linking reaction, or postpolymerization modification, miktoarm stars are potentially converted into other architectural polymers such as linear, tadpole-like, graft, and dendrimer-like polymers via cleavage and rearrangement in the chain structure. This feature article aims to systematically summarize the synthetic methods and versatile topological transitions of ABC, ABCD, and ABCDE stars. The advantages and limitations of each approach are highlighted, and the future considerations on developments and challenges are discussed.

Pianism: Performance Communication and the Playing Technique.

A pianist’s movements are fundamental to music-making by producing the musical sounds and the expressive movements of the trunk and arms which communicate the music’s structural and emotional information making it valuable for this review to examine upper-body movement in the performance process in combination with the factors important in skill acquisition. The underpinning playing technique must be efficient with economic muscle use by using body segments according to their design and movement potential with the arm segments mechanically linked to produce coordinated and fluent movement. Two physiologically and pianistically important actions proposed by early music scientists to deliver the keystroke involve dropping the hand from the shoulders toward the keys via a wave action with the joints activated sequentially, and forearm rotation to position the fingers for the keystroke, an action followed by the elbow/upper-arm rotating in the opposite direction. Both actions spare the forearm muscles by generating the energy needed in the larger shoulder muscles. The hand in the playing position has a curved palm through action of the metacarpal (knuckle) joints and curved fingers. Palm/finger posture controls sound quality from loud, high tempo sounds to a more mellow legato articulation, and to perform effectively the forearms should slope down toward the keyboard. The technique must be automatic through systematic practice which develops the motor skills for proficient playing, with practice duration tempered to reduce the risk of causing injury through overuse of the forearm muscles. Efficient movement patterns and strategic muscle relaxation which results in faster movement are realized only through extensive training. The constant movements of the head and trunk, and flowing arm movement with frequent hand lifts and rotational elbow movements, although generated in producing the playing technique, resonate with audience members who perceive them as expressive and thereby creating in them an empathic engagement with the music. It was proposed that music students be trained in the mechanical aspects of upper-body use in the playing technique, and practice strategies, with specialist pedagogy for children to develop motor skills for efficient playing, and training methods fostering an appreciation of the communicative aspects of music performance.

Delayed fatigue in finger flexion forces through transcutaneous nerve stimulation

Objective. Weakness of the hand is a major impairment which limits independent living. Neuromuscular electrical stimulation (NMES) is a common approach to help restore muscle strength. Traditional NMES directly over the muscle often leads to a rapid onset of muscle fatigue. In this study, we investigated the force sustainability of finger flexor muscles using a transcutaneous nerve stimulation approach. Approach. Finger flexion forces and high-density electromyogram (HD EMG) signals were obtained while electrical stimulation was applied to the ulnar and median nerve bundles through a stimulation grid on the proximal arm segment. Stimulation was also applied to the finger flexor muscle belly targeting the motor point, serving as a control condition. The force produced from the two stimulation approaches were initially matched, and muscle fatigue was subsequently induced with 5 min of continuous stimulation. The rate of decay of the force and EMG amplitude were quantified, and the spatial distribution of the muscle activation during the sustained contraction was also evaluated. Main results. The proximal nerve stimulation approach induced a slower decay in both force and EMG, compared with the stimulation at the motor point. The spatial distribution of the elicited muscle activation showed that the proximal nerve stimulation led to a distributed activation across the intrinsic and extrinsic finger flexor muscles and also activated a wider area within the extrinsic muscle. Significance. Our findings demonstrated that the stimulation of the proximal nerve bundles can elicit sustained force output and delayed decrease in the rate of force decline. This is potentially due to a spatially distributed activation of the muscle fibers, compared with the traditional motor point stimulation. Future development of our nerve stimulation approach may enable prolonged usage during rehabilitation or assistance for better functional outcomes.

The Galactic warp revealed by Gaia DR2 kinematics

ABSTRACT Using Gaia DR2 astrometry, we map the kinematic signature of the Galactic stellar warp out to a distance of 7 kpc from the Sun. Combining Gaia DR2 and 2-Micron All Sky Survey photometry, we identify, via a probabilistic approach, $599 \, 494$ upper main sequence (UMS) stars and $12\, 616\, 068$ giants without the need for individual extinction estimates. The spatial distribution of the UMS stars clearly shows segments of the nearest spiral arms. The large-scale kinematics of both the UMS and giant populations show a clear signature of the warp of the Milky Way, apparent as a gradient of 5–6 km s−1 in the vertical velocities from 8 to 14 kpc in Galactic radius. The presence of the signal in both samples, which have different typical ages, suggests that the warp is a gravitationally induced phenomenon.

Structure and Mechanisms of NT5C2 Mutations Driving Thiopurine Resistance in Relapsed Lymphoblastic Leukemia

Activating mutations in the cytosolic 5'-nucleotidase II gene NT5C2 drive resistance to 6-mercaptopurine in acute lymphoblastic leukemia. Here we demonstrate that constitutively active NT5C2 mutations K359Q and L375F reconfigure the catalytic center for substrate access and catalysis in the absence of allosteric activator. In contrast, most relapse-associated mutations, which involve the arm segment and residues along the surface of the inter-monomeric cavity, disrupt a built-in switch-off mechanism responsible for turning off NT5C2. In addition, we show that the C-terminal acidic tail lost in the Q523X mutation functions to restrain NT5C2 activation. These results uncover dynamic mechanisms of enzyme regulation targeted by chemotherapy resistance-driving NT5C2 mutations, with important implications for the development of NT5C2 inhibitor therapies.

Dichotomous On-Surface Self-Assembly of Tripod Molecules with Anchor Like Interaction Pattern

Recent development of methods to fabricate low dimensional molecular structures has enabled tailoring their architecture using building blocks with suitably encoded structural and chemical properties. In this contribution we study structure formation in adsorbed assemblies comprising model tripod molecules equipped with terminal arm segments providing short-range directional interactions. The interaction directions were assigned in a specific anchor like pattern which enabled the creation of diverse intermolecular connections. To explore the on-surface self-assembly of these functional units the coarse grained lattice Monte Carlo simulation method was used in which the molecules were represented as collections of interconnected segments adsorbed on a triangular lattice. Our theoretical investigations focus on the effect of symmetry and size of molecular backbone on the outcome of the 2D self-assembly. The simulations revealed the formation of complex superstructures of two types including porous networks with diverse nanocavities and nanoribbons characterized by a constant width. Occurrence of these different assemblies was found to be strongly dependent on the molecular symmetry and aspect ratio, highlighting the decisive role of the arm length distribution in the tripod building block. The theoretical results of this study can be helpful in designing new low-dimensional superstructures which are stabilized be weak intermolecular interactions as well as by covalent bonds formed in on-surface reactions such as the Ullmann coupling.

Auto-immune disorders in a child with PIK3CD variant and 22q13 deletion

22q13 deletion syndrome is a genetic disorder caused by the deletion or disruption of the segment of the long arm of chromosome 22. The characteristic clinical features of this syndrome include delayed expressive speech, autistic behavior and hypotonia, and clinically severe complications associated with autoimmunity are rarely reported. We herein report a girl with 22q13 deletion syndrome complicated with multiple inflammatory and autoimmune diseases during early childhood. We performed whole-exome sequencing to identify the genes responsible for her autoimmune diseases and identified the de novo variant p.R512W in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta (PIK3CD) gene. We suspected it to be the disease-causing variant at the conserved residue in PIK(3)C p110δ. Alternatively, haplo-insufficiency of SHANK3 or other genes by 22q13 deletion and the PIK3CD variant might have synergistically contributed to the onset of the distinctive clinical manifestations in this patient.

4. Median/ulnar nerve ultrasound cross-sectional area ratio in ALS

Background It has been shown that hand muscle wasting in amyotrophic lateral sclerosis (ALS) preferentially affects the thenar muscles, with relative sparing of the hypothenar muscles. This so-called “split-hand” is clinical sign that can be used to differentiate ALS from mimic disorders, and is thought to be caused by a difference in nerve excitability between median and ulnar nerve. The split-hand phenomenon has been largely discussed in regard to neurophysiological finding, but no studies performed comparing median and ulnar nerve size using ultrasound. We therefore sought to compare nerve size between the median and ulnar nerves in ALS using ultrasound in order to determine whether this may give further insight into the split-hand phenomenon. Objective To identify whether nerve ultrasound results might reflect the clinical split-hand sign in ALS patients and whether these findings can be used to differentiate ALS from other neuromuscular disorders. Methods Ultrasound was used to image both the median and ulnar nerves of 98 patients with ALS and 82 patients with other neuromuscular disorders (non-ALS). The nerve cross-sectional area (CSA) was measured at the wrist, the forearm, and the upper arm bilaterally. Nerve CSA values and median/ulnar nerve CSA ratios were compared at different locations between the two groups. Result Both the median and ulnar nerve CSA values were smaller in the ALS group than in the non-ALS group, except for the median nerve at the wrist. The median/ulnar nerve CSA ratio was comparatively decreased in the upper arm segment. There was a significant difference between the two groups at the wrist on the left side and at upper arm on the right side (Left wrist (IQR) ALS: 2.00 (1.67, 2.33) vs non-ALS: 1.63 (1.35, 2.18) p = 0.003, Right upper arm (IQR) ALS: 1.29 (1.12, 1.50) vs non-ALS: 1.37 (1.16, 1.69) p = 0.003). Conclusion We observed that the median/ulnar nerve CSA ratio was decreased in ALS patient at the upper arm segment. Overall, these findings suggest that there is preferential involvement of the median nerve compared to the ulnar nerve in ALS, which is consistent with the clinical findings of the split hand in these patients. This adds further support to the involvement of peripheral mechanisms underlying this phenomenon. Therefore, ultrasound may be a useful non-invasive tool to objectively detecting changes. Further studies assessing cortical contribution to the clinical and ultrasound findings are warranted to elucidate this pathology further.