Scapular Girdle Research Articles

Osteology of Unenlagia comahuensis (Theropoda, Paraves, Unenlagiidae) from the Late Cretaceous of Patagonia.

Unenlagia comahuensis was originally described as a phylogenetic link between nonavian dinosaurs and birds. Later it was interpreted by some authors as belonging to the deinonychosaurian clade Dromaeosauridae, and more recently as phylogenetically closer to birds than to dromaeosaurids. The only known specimen is represented by an incomplete skeleton, including vertebrae, incomplete scapular girdle, pelvis, and limbs, coming from Upper Cretaceous beds of Neuquén province, Patagonia, Argentina. The aim of the present paper is to include a detailed anatomical description of Unenlagia (currently only known by preliminary descriptions). Detailed analysis of Unenlagia anatomy resulted in the recognition of one possible additional Unenlagiidae synapomorphy (i.e., the presence of cup-like iliac articulation on ischium). We recognize derived anatomical traits that Unenlagia and kin share with birds, lending support to the interpretation that unenlagiids are stem-Avialae. Particularly, some appendicular features (e.g., scapula with subtriangular and relatively reduced acromion, poor outward projection of the glenoid and glenoidal lips on the scapula, lateral orientation of scapular glenoid, craniolaterally oriented deltopectoral crest of humerus) may be related to the acquisition of anatomical novelties that in birds are associated with flight. The present contribution on Unenlagia provides new data regarding the early evolution of avian features.

Myasthenia gravis and pregnancy.

Myasthenia gravis is an autoimmune disease characterised by fluctuating muscle weakness, which worsens during activity. It affects particularly scapular and pelvic girdles, axial and bulbar muscles. Myasthenia gravis is twice more frequent in women and symptoms often appear in the second and third decade of life. Thus, a growing number of women affected by this condition become pregnant. To minimise the effects of myasthenia gravis on pregnancy and the newborn, and to avoid myasthenia crisis in the post-partum, the pregnancy must be planned as far as possible. During pregnancy, treatment must be reviewed due to the threat of teratogenic effects (mycophenolate mofetil, rituximab), and the follow-up must be multidisciplinary.

Evaluation of outcome of surgically treated displaced clavicle fractures

Clavicle fracture is the most frequent trauma of the scapular girdle, and involves the midshaft in 4 out of 5 cases. Non-displaced clavicle fractures of whatever location are usually managed non-operatively. Rare open fractures or fractures associated with neurovascular complications are usually managed surgically. High-energy trauma (floating shoulder, shoulder impaction, multiple trauma) may be managed surgically, on a case-by-case basis [1, 2]. This was a prospective study where 50 patients attending Outpatient, casualty and patients admitted with clavicle fractures from January to December 2018 were studied. Totally 50 patients underwent open reduction and plate fixation from January to December 2018 were followed up for a period of 6 months from the date of admission and analyzed both clinically using Constant Murley scoring system and radiologically with serial radiographs. Clavicle fractures were more common on the right side; about 60% of the patients and 40% of patients had fracture on the left side. The majority of trauma was due to road traffic accidents which constituted to 80%, while fall constituted the rest 20%. Of the 50 clavicle fractures, 40 cases in this study are simple fractures and 6 cases are comminuted fracture and 4 cases was segmental clavicle fracture. All patients were followed up on a regular basis and serial X rays were taken. Union was defined as complete cortical bridging between the distal and proximal fragments. All fractures achieved union as determined by the surgeon after radiographic evaluation. The patients with simple displaced fractures united in 9 weeks while in cases of comminuted fracture with butterfly fragment required 13 weeks and segmental fracture required 15 weeks. There were no instances of nonunion.

Sarcoglycanopathies: state of the art and therapeutic perspectives

Sarcoglycanopathies are the third most common cause of autosomal recessive limb girdle muscular dystrophies (LGMD). They are the result of a deficiency in one of the sarcoglycans a, b, g, or d. The usual clinical presentation is that of a symmetrical involvement of the muscles of the pelvic and scapular girdles as well as of the trunk, associated with more or less severe cardio-respiratory impairment and a marked increase of serum CK levels. The first symptoms appear during the first decade, the loss of ambulation occurring often during the second decade. Lesions observed on the muscle biopsy are dystrophic. This is associated with a decrease or an absence of immunostaining of the sarcoglycan corresponding to the mutated gene and, to a lesser degree, of the other three sarcoglycans. Many mutations have been reported in the four incriminated genes and some of them are prevalent in certain populations. To date, there is no curative treatment, which does not prevent the development of many clinical trials, especially in gene therapy.

Large genotype\u2013phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis

Facioscapulohumeral muscular dystrophy (FSHD) is a myopathy with prevalence of 1 in 20,000. Almost all patients affected by FSHD carry deletions of an integral number of tandem 3.3 kilobase repeats, termed D4Z4, located on chromosome 4q35. Assessment of size of D4Z4 alleles is commonly used for FSHD diagnosis. However, the extended molecular testing has expanded the spectrum of clinical phenotypes. In particular, D4Z4 alleles with 9–10 repeat have been found in healthy individuals, in subjects with FSHD or affected by other myopathies. These findings weakened the strict relationship between observed phenotypes and their underlying genotypes, complicating the interpretation of molecular findings for diagnosis and genetic counseling. In light of the wide clinical variability detected in carriers of D4Z4 alleles with 9–10 repeats, we applied a standardized methodology, the Comprehensive Clinical Evaluation Form (CCEF), to describe and characterize the phenotype of 244 individuals carrying D4Z4 alleles with 9–10 repeats (134 index cases and 110 relatives). The study shows that 54.5% of index cases display a classical FSHD phenotype with typical facial and scapular muscle weakness, whereas 20.1% present incomplete phenotype with facial weakness or scapular girdle weakness, 6.7% display minor signs such as winged scapula or hyperCKemia, without functional motor impairment, and 18.7% of index cases show more complex phenotypes with atypical clinical features. Family studies revealed that 70.9% of relatives carrying 9–10 D4Z4 reduced alleles has no motor impairment, whereas a few relatives (10.0%) display a classical FSHD phenotype. Importantly all relatives of index cases with no FSHD phenotype were healthy carriers. These data establish the low penetrance of D4Z4 alleles with 9–10 repeats. We recommend the use of CCEF for the standardized clinical assessment integrated by family studies and further molecular investigation for appropriate diagnosis and genetic counseling. Especially in presence of atypical phenotypes and/or sporadic cases with all healthy relatives is not possible to perform conclusive diagnosis of FSHD, but all these cases need further studies for a proper diagnosis, to search novel causative genetic defects or investigate environmental factors or co-morbidities that may trigger the pathogenic process. These evidences are also fundamental for the stratification of patients eligible for clinical trials. Our work reinforces the value of large genotype–phenotype studies to define criteria for clinical practice and genetic counseling in rare diseases.

Postcranial skeleton of Spalacopus cyanus (Rodentia: Octodontidae): description and functional aspects

The genus Spalacopus includes only one species, S . cyanus , endemic to central Chile and one of the species best adapted to a subterranean lifetyle in the family Octodontidae. It is a member of the lineage consisting in Octodontomys as a sister clade containing Octodon and of a clade represented by Spalacopus and Aconaemys . Although the external and cranio-dental morphology have been well studied, little is known of the postcranial morphology of S . cyanus . Because of the peculiarities of its lifestyle and locomotion among the members of the family, it is interesting to characterize details of the morphology of the postcranial skeleton of this species and to infer their functional aspects of the morphology. Twenty-nine specimens with postcranial material stored in two collections were studied: Museo de La Plata (MLP), La Plata, Buenos Aires, Argentina and Coleccion de Mamiferos del Instituto de Ciencias Ambientales y Evolutivas (UACH), Universidad Austral de Chile, Valdivia, Chile. To describe in detail the morphology of the bone elements, the skeleton was divided in the following regions: axial skeleton, scapular girdle and forelimb, and pelvis girdle and hindlimb. The structures included in the axial skeleton were mainly described in cranial-caudal orientation and the limbs in proximal-distal orientation. All structures were observed with stereoscopic microscopes Leica Wild M3Z and Nikon SMZ 745T including pictures to illustrate the descriptions. Highly conservative characteristics among members of the family Octodontidae were observed in the postcranial morphology of S . cyanus , although some characters are exclusive to this species. The axial skeleton has seven cervical vertebrae, 12 or 13 thoracic, six or seven lumbar, four sacral, 16 to 18 caudal vertebrae, 12 or 13 ribs and a sternum with five sternebrae. The elements of the scapular and pelvic girdles as well as forelimbs and hindlimbs are described in detail, except the carpus and tarsus due to their poor state of conservation, or because they not available. The morphological pattern observed in the postcranial skeleton of S . cyanus conforms to a typical anatomical plan for terrestrial species, and some bones (mainly humerus and ulna) present characteristics associated with digging. The information obtained provided will allow a better interpretation of the postcranial attributes, functionally related with different lifestyle, in a future, as well as the evolution of the traits in a phylogenetic context.

Tolerance and effectiveness of eccentric vs. concentric muscle strengthening in rotator cuff partial tears and moderate to severe shoulder pain. A randomized pilot study

IntroductionRotator cuff tears are the main cause of shoulder pain and disability. First line of treatment is conservative; there is evidence regarding the advantage of using eccentric over concentric exercises in tendinopathies, but there are no evidence-based recommendations on starting strengthening exercise during painful phases nor on the effectiveness and advantages of eccentric vs. concentric exercise in rotator cuff tears. ObjectiveTo evaluate the tolerance of a resistance strengthening program and to compare eccentric vs. concentric programs. DesignA pilot, experimental, randomized controlled study. SettingOutpatient Rehabilitation Center. PatientsTwenty-six patients with a diagnosis of partial rotator cuff tear were randomly assigned to: the experimental group (eccentric, n = 12) and the control (concentric, n = 14). InterventionThe experimental group performed muscle strengthening with eccentric technique directed to shoulder and scapular girdle muscles, while the control group performed the concentric technique. Main outcome measures.Visual Analogue Scale (VAS), Constant Scale, Strength, Structure (Ultrasound report). ResultsThe tolerance rate was 96% in both groups. Median age (experimental vs. control) was 54.5 vs. 54 years (p = 0.69). Results at baseline, and at months 1, 3, and 12 (median) were as follows: for VAS (mm), experimental: 55, 30, 30, and 10, p < 0.001 (intra-group); control: 50, 30, 30, and 5, p = 0.01; Constant scale (points): experimental 58.5, 88, 93, and 85, p < 0.001; control 50.62, 80, and 91.5, p = 0.038; normalized strength (Kg); experimental: 0.23, 0.29, 0.73, and 0.72, p = 0.001, and control: 0.24, 0.21, 0.54, and 0.66, p = 0.01. We found inter-group differences in the Constant scale at 1 and 3 months (p < 0.05), and in strength at months 1 and 3 (p < 0.05). We observed structural differences in tendon (healing) between groups at 3 and 12 months. ConclusionsEccentric and concentric strengthening were well tolerated; both show early improvement in pain, functionality and tendon structure. Eccentric training appears to be more effective than concentric in the early improvement of functionality, strength and tendon healing.

Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is considered an autosomal dominant disorder, associated with the deletion of tandemly arrayed D4Z4 repetitive elements. The extensive use of molecular analysis of the D4Z4 locus for FSHD diagnosis has revealed wide clinical variability, suggesting that subgroups of patients exist among carriers of the D4Z4 reduced allele (DRA). To investigate the clinical expression of FSHD in the genetic subgroup of carriers of a DRA with 7 to 8 repeat units (RUs). This multicenter cross-sectional study included 422 carriers of DRA with 7 to 8 RUs (187 unrelated probands and 235 relatives) from a consecutive sample of 280 probands and 306 relatives from the Italian National Registry for FSHD collected between 2008 and 2016. Participants were evaluated by the Italian Clinical Network for FSHD, and all clinical and molecular data were collected in the Italian National Registry for FSHD database. Data analysis was conducted from January 2017 to June 2018. The phenotypic classification of probands and relatives was obtained by applying the Comprehensive Clinical Evaluation Form which classifies patients in the 4 following categories: (1) participants presenting facial and scapular girdle muscle weakness typical of FSHD (category A, subcategories A1-A3), (2) participants with muscle weakness limited to scapular girdle or facial muscles (category B, subcategories B1 and B2), (3) asymptomatic or healthy participants (category C, subcategories C1 and C2), and (4) participants with myopathic phenotypes presenting clinical features not consistent with FSHD canonical phenotype (category D, subcategories D1 and D2). A total of 187 probands (mean [SD] age at last neurological examination, 53.5 [15.2] years; 103 [55.1%] men) and 235 relatives (mean [SD] age at last neurologic examination, 45.1 [17.0] years; 104 [44.7%] men) with a DRA with 7 to 8 RUs and a molecular diagnosis of FSHD were evaluated. Of 187 probands, 99 (52.9%; 95% CI, 45.7%-60.1%) displayed the classic FSHD phenotype, whereas 86 (47.1%; 95% CI, 39.8%-54.3%) presented incomplete or atypical phenotypes. Of 235 carrier relatives from 106 unrelated families, 124 (52.8%; 95% CI, 46.4%-59.7%) had no motor impairment, whereas a small number (38 [16.2%; 95% CI, 9.8%-23.1%]) displayed the classic FSHD phenotype, and 73 (31.0%; 95% CI, 24.7%-38.0%) presented with incomplete or atypical phenotypes. In 37 of 106 families (34.9%; 95% CI, 25.9%-44.8%), the proband was the only participant presenting with a myopathic phenotype, while only 20 families (18.9%; 95% CI, 11.9%-27.6%) had a member with autosomal dominant FSHD. This study found large phenotypic variability associated with individuals carrying a DRA with 7 to 8 RUs, in contrast to the indication that a positive molecular test is the only determining aspect for FSHD diagnosis. These findings suggest that carriers of a DRA with 7 to 8 RUs constitute a genetic subgroup different from classic FSHD. Based on these results, it is recommended that clinicians use the Comprehensive Clinical Evaluation Form for clinical classification and, whenever possible, study the extended family to provide the most adequate clinical management and genetic counseling.

THE RESULTS OF SURGICAL TREATMENT OF SPRENGEL'S DEFORMITY DEPENDING ON THE PATIENTS’ AGE

Introduction. Despite the developments, up to now, such questions as the effectiveness of surgical treatment of Sprengel's deformity in children older than 7 years; elimination of the cosmetic defect caused by scapular hypoplasia and shoulder girdle shortening; and prevention of neurological disorders caused by the brachial plexus compression remain debatable.Objective. Effectiveness evaluation of surgical treatment of Sprengel's deformity in patients of various age groups, and the improvement of the results of surgical correction of high scapula.Materials and methods. Treatment data of 14 patients with high scapula were analyzed. To compare the effectiveness evaluation of surgical treatment, patients were divided into 2 groups: I group - 6 children (42.8 %) aged 4 to 8 years; II group - 8 children (57.2 %) aged 9 to 16 years. During examination, the active and passive shoulder abduction alongside with its rotation was measured in degrees. Shoulder girdles length and the size of transverse and longitudinal scapula bodies were measured in the radiographs of both shoulders. Diameters of the articular surface and the head of the shoulder were determined.Results. Analysis of the clinical manifestations of the disease showed that diagnosis in children under 2 years of age was noted only in 2 (14.3 %) cases with a bone form of the disease. Deformity in other patients was regarded as a manifestation of scoliosis, an anomaly in the development of the cervical spine according to the Clinnel-Feil type, the presence of cervical ribs, and a benign bone tumor. Restriction of shoulder abduction was a symptom that drew parents’ attention. All patients underwent surgery. Analysis of the results of surgical treatment of two groups of patients showed that the scapula position along its lower corner corresponded to the opposite side in the first group of patients. There was symmetry in the position of the spine of the scapula. All patients of the first group had shortening of the shoulder girdle due to the decrease of scapula lateral size, which ranged from 2.5 to 3 cm, depending on the age of the patient. Further observation over the next 2 years showed that the difference in the scapula transverse size decreased to 1.2-1.5 cm in 5 (35.7 %) cases. Scapula transverse size before surgery was reduced from 3.1 up to 4.5 cm. in patients of the second group, depending on the form of Sprengel's deformity. 6 months after the operation, scapula position in its lower corner was equal to the indices of a healthy half of the body. Therefore, a comparative analysis of the anatomical data during the follow-up period after surgery up to 2 years showed that patients of the first age group had a tendency to improve indicators of scapular size and shoulder length. Analysis of the shoulder joint function in the form of shoulder abduction showed that its average increase was 700 in patients of the first group, and only 500 in patients of the second group.Conclusions. Surgical treatment of high scapula gives a positive result in children older than 7-8 years in the form of cosmetic defect elimination and some improvement in the range of shoulder joint motion. Functional indicators in children of a younger age group are better, however, lagging in scapula growth and shortening of the shoulder girdle is possible. Sharp shortening of the shoulder girdle while pulling shoulders back can be corrected by lengthening the spine of the scapula with the help of osteotomy method and replacing the defect with a bone allograft.

Anatomy of the visceral cavity of Eugerres mexicanus (Teleostei: Gerreidae)

Introduction. The visceral cavity of teleostean fishes contains the kidneys, digestive tube and annexed glands, gas bladder, gonads, and spleen. Objective: To analyze and describe the anatomic relationships of the organs of the visceral cavity of the Mexican mojarra, Eugerres mexicanus. Methods: By means of dissections, we analyzed, described and illustrated the splanchnology of the visceral cavity of 10 adult specimens from the State of Chiapas, Mexico. Results: The visceral cavity is delimited by the precaudal vertebrae, the scapular and pelvic girdles, the pleural ribs, the first anal pterygiophore and several myotomes. Both kidneys, with extraperitoneal character are partially fused each other, and contact the neurocranium, the precaudal vertebrae, and the gas bladder. The digestive tube does not present a stomach nor pyloric caeca, and it is 1.3 the standard length of the fish. The liver has two short right lobes. Both ovaries and testes are wide and reach the liver. The spleen is ovoid and is located on the left side of the duodenum. The gas bladder has two anterior lobes, its posterior end is in direct contact with the floor of the visceral cavity, and contain the urinary bladder. Discussion: The organization of the organs in the visceral cavity is in the anatomical pattern of the teleostean fishes, however, the organ that shows the highest number of special characters is the gas bladder, which as in other species of Eugerres is large and shows two notable anterior lobes, reinforced by epipleural ribs. Compared with other species of Eugerres, the Mexican mojarra shows, as exclusive characters: a) the union of the posterior end of the gas bladder with the floor of the visceral cavity, and, b) the location of the urinary bladder within the gas bladder.

Does bone preparation impact its shape: consequences for comparative analyses of bone shape.

Vertebrate osteological collections provide comparative material for morphological analysis. Before being stored in the collection and studied by researchers, specimens are treated by preparators or curators and are cleaned. The preparation protocol employed ideally should not damage the material. Here, we explore the potential deformation of bones due to preparation using geometric morphometric methods. We focus both on intraspecific and interspecific variability. Our data on the scapular girdle of birds show that, at an intraspecific level, the effect of preparation on bone shape cannot be neglected. Paired and unpaired bones did not respond to the preparation process in the same way, possibly due to differences in function and their anatomical characteristics. Moreover, deformations due to preparation can be estimated by looking at the texture of the bone. At the interspecific level, we found no significant differences as the deformations induced by preparation are relatively small compared to differences among species. This study highlights the importance of carefully selecting preparation methods in order to avoid physical damage that could impact the shape of bones, especially for studies at the intraspecific level.

EP.36PATCHS MRI score correlates with clinical severity in facioscapulohumeral muscular dystrophy

To find the involvement pattern of skeletal muscle in FSHD patients and its correlation with clinical evaluations. PATCHS MRI scans of multi-section muscles consist of bilateral 6 muscle groups including scapular girdle, humeral, pelvic girdle, thigh, calf and axial muscles, with a total of 78 muscles. PATCHS MRI scans in 30 Chinese FSHD1 patients were semi-quantitively assessed for fat infiltration and were correlated to multiple clinical outcome measures. Cluster analysis was conducted to identify the different involvement pattern of muscles. In scapular girdle and humeral muscle, the most frequently and severely involved muscles were the trapezius, serratus anterior, rhomboideus and latissimus dorsi. And in pelvic girdle and leg muscles, they were semimembranosus, biceps femoris, gluteus minimus and semitendinosus. The fat infiltration score of total skeletal muscles correlated highly with the motor function measure, FSHD clinical score, Ricci score, 6-minute walking test and manual muscle testing (correlation coefficients -0.8767, 0.7768, 0.7705, -0.7077, 0.6973, respectively). And the correlation was stronger in PATCHS MRI than in MRI of legs. Cluster analysis indicated two distinctive patterns of muscle involvement, suggesting a group of untypical FSHD patients with early and more severely involved pelvic girdle and leg muscles. We showed a strong correlation between the fat infiltration score of PATCHS MRI and clinical outcome measures. PATCHS MRI scans unfolded a better performance in capturing the disease severity and motor functioning comparing with MRI of legs. We identified a group of untypical FSHD patients with early and more severely involved pelvic girdle and leg muscles, indicating the wide spectrum of phenotype in FSHD.

Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations

ObjectiveTo study scapular winging or other forms of scapular dyskinesis (condition of alteration of the normal position and motion of the scapula) in myotonic dystrophy type 1 (DM1), which is generally considered to be a distal myopathy, we performed an observational cohort study.MethodsWe performed a prospective cohort study on the clinical features and progression over time of 33 patients with DM1 and pronounced, mostly asymmetric scapular winging or other forms of scapular dyskinesis. We also explored if scapular dyskinesis in DM1 has the same genetic background as in facioscapulohumeral muscular dystrophy type 1 (FSHD1).ResultsThe cohort included patients with congenital (n = 3), infantile (n = 6) and adult-onset DM1 (n = 24). Scapular girdle examination showed moderate shoulder girdle weakness (mean MRC 3) and atrophy of trapezius, infraspinatus, and rhomboid major, seemingly similar as in FSHD1. Shoulder abduction and forward flexion were limited (50–70°). In five patients, scapular dyskinesis was the initial disease symptom; in the others it appeared 1–24 years after disease onset. Follow-up data were available in 29 patients (mean 8 years) and showed mild to severe increase of scapular dyskinesis over time. In only three patients, DM1 coexisted with a FSHD mutation. In all other patients, FSHD was genetically excluded. DM2 was genetically excluded in nine patients. The clinical features of the patients with both DM1 and FSHD1 mutations were similar to those with DM1 only.ConclusionScapular dyskinesis can be considered to be part of DM1 in a small proportion of patients. In spite of the clinical overlap, FSHD can explain scapular dyskinesis only in a small minority. This study is expected to improve the recognition of shoulder girdle involvement in DM1, which will contribute to the management of these patients.

PHYSIOTHERAPEUTIC INTERVENTION IN PATIENTS AFFECTED BY THE SYNDROME OF SPOAN: AN EXPERIENCE REPORT

The SPOAN syndrome is a neurodegenerative disease of autosomal recessive inheritance that causes atrophy of muscles of the upper and lower limbs of the affected individuals. The disease had its initial characterization carried out in individuals originating in the upper western part of the city of Serrinha dos Pintos, State of Rio Grande do Norte, by researchers from the Center for Human Genome Studies and Hospital das Clínicas of the University of São Paulo in the year 2005. Its clinical characteristics include: congenital and atrophic optic atrophy Progressive spastic paraplegia, with early onset of life, axonal neuropathy, with clinical onset after the first decade of life, startle response with unexpected sounds, dysarthria, spinal and foot deformities, and extrapyramidal signs. The present text aims to report the cases of patients with SPOAN under the physiotherapeutic assistance of the Expanded Nucleus of Family Health (NASF) in the city of Serrinha dos Pintos-RN. Experience report: This is an experience report on the care of patients with SPOAN syndrome assisted by the municipality's NASF. In the municipality there were 14 patients with SPOAN, but only 4 (28.5%) of these patients attended the physiotherapeutic care. The treatment lasted an average of 40-50 minutes, with moderate resting pauses between sessions. They consisted of: passive joint mobilization exercises, scapular and pelvic girdle dissociation exercises, intra-articular mobilization exercises, stretching, muscle strengthening , respiratory exercises, myofascial release, Kabat methods, Bobath and Pilates, electrotherapy, and auriculotherapy. Final considerations: Physiotherapic care given to patients with SPOAN syndrome is considered to be extremely important for the preservation of functionality of these patients, since there is a satisfactory clinical evolution, with improvement of muscular strength and flexibility, range of joint movement and respiratory capacity. Therefore, future studies regarding the diagnosis and prognosis of SPOAN are necessary, since early appropriate therapeutic intervention allows the best functional outcome.

Genetics of scapula and pelvis development: An evolutionary perspective.

In tetrapods, the scapular and pelvic girdles perform the important function of anchoring the limbs to the trunk of the body and facilitating the movement of each appendage. This shared function, however, is one of relatively few similarities between the scapula and pelvis, which have significantly different morphologies, evolutionary histories, embryonic origins, and underlying genetic pathways. The scapula evolved in jawless fish prior to the pelvis, and its embryonic development is unique among bones in that it is derived from multiple progenitor cell populations, including the dermomyotome, somatopleure, and neural crest. Conversely, the pelvis evolved several million years later in jawed fish, and it develops from an embryonic somatopleuric cell population. The genetic networks controlling the formation of the pelvis and scapula also share similarities and differences, with a number of genes shaping only one or the other, while other gene products such as PBX transcription factors act as hierarchical developmental regulators of both girdle structures. Here, we provide a detailed review of the cellular processes and genetic networks underlying pelvis and scapula formation in tetrapods, while also highlighting unanswered questions about girdle evolution and development.

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES: P.232Core and rod myopathy due to a novel mutation in BTB domain of KBTBD13 gene presenting as LGMD

A 59 years-old man complained about progressive pelvic and scapular girdles weakness since he was 50. Clinical examination revealed a generalized muscle hypertrophy, slowly movements and proximal muscle weakness. CK level ranged from 250 to 600 UI/L. Morphological data from three muscle biopsies were available. Nemaline rods were detected in two of three biopsies. ACTA1, RYR1, and NEB genes were initially ruled out. Because of muscle MRI features and clinical phenotype, mutation on POGLUT1 was suspected. Alpha-dystroglican showed normal immunostaining on muscle biopsy but reduction on WB. Molecular analysis of POGLUT1 was negative. Finally, a third biopsy was performed and revealed the presence of cores by optic microscopy whereas small rods were detected by electron microscopy. Type 2 hypotrophy was not observed in any of three muscle biopsies. Sanger sequencing revealed a novel missense mutation in BTB domain of KBTBD13 gene leading the diagnosis of core and rod myopathy. Mutation falls at the end of the alpha4 helix and seems to affect the self-association of BTB domain but not the BTB-Cul3 interaction. NGS panel for congenital myopathies ruled out other possible genes implicated in core and rod myopathies. Our findings expand clinical and genetical spectrum of core and rod myopathies.

Anticipatory postural adjustments in the shoulder girdle in the reach movement performed in standing by post-stroke subjects

After a stroke in middle cerebral artery territory, there is a high probability of dysfunction of the ventromedial pathways, mainly related with postural control mechanisms such as the anticipatory postural adjustments (APAs). According to neuroanatomical knowledge, these pathways have a predominant ipsilesional disposition, which justifies a bilateral postural control dysfunction, often neglected in rehabilitation. In order to assess this bilateral postural control dysfunction, electromyography activity was assessed in eight post-stroke and 10 healthy individuals in the anterior deltoids, the superior and lower trapezius, and the latissimus dorsi as they reached for a bottle with both upper limbs separately at a self-selected velocity and fast velocity while standing associated with trunk kinematics analysis. Through this analysis it was possible to compare the timing of APAs in scapular muscles between sides in post-stroke and with healthy individuals, and to verify if there is a relation between the timing and the displacement of the trunk in the temporal window of the APAs. Indeed, post-stroke individuals show a delayed activation of APAs on scapular girdle muscles on both ipsilesional and contralesional sides, which were not reflected in the trunk displacement.

The effect of adenotonsillectomy on the position of head, cervical and thoracic spine and scapular girdle of mouth breathing children

The clinical decision for surgical treatment of children diagnosed with mouth breathing depends on the percentage of mechanical obstruction correlated with exacerbation of upper respiratory tract infections and systemic changes. The benefits of adenotonsillectomy include changes in the nasopharyngeal space, the mandibular plane and myofunctional alterations. Post-adenotonsilectomy postural benefits have not yet been described. Objectives:To investigate the kinematics of the shoulder girdle, cervical and thoracic spine in children with mouth breathing before and after adenotonsillectomy. Methods: Forty-nine mouth breathing children (6.3 ± 1.8 years) of both sexes participated in the study. The measures of thoracic kyphosis, forward head position, shoulders protrusion and abduction, elevation, anterior tilt and internal rotation of the scapula were evaluated before and after surgery. The kinematic data were obtained using the system Qualysis ProReflex®.Results:There was a significant decrease in forward head position, shoulders protrusion, elevation and anterior tilt of the scapula after surgery compared to the pre-operative. Conclusion: One of adenotonsillectomy results is the improvement of the posture of the head and the shoulder girdle of mouth breathing children. Clinically these findings are important and will contribute to improving the quality of life of mouth breathing children.

Biomechanics of the immediate impact of wearing a rigid thoracolumbar corset on gait kinematics and spatiotemporal parameters

The corset support is a device classified as orthosis. It compensates a functional deficiency with means of protection, recovery, correction, maintenance, and support or contention. There are two types of orthosis 1) rest orthosis and 2) corrective orthosis. Rest orthosis maintains joints in a defined position to avoid deformities or to relieve a pain at joints. Corrective orthosis adjusts joint deformity either passively or actively. Corset is used in various pathological use, thoracic-lumbar fracture, scoliosis, Scheuermann’s disease or spinal dystrophy. The purpose of this study was 1) to determine the immediate impact of wearing a semi-rigid thoracolumbar corset, the Lombax® Dorso on gait kinematics and 2) spatiotemporal parameters in 6 adults. These parameters were recorded using the optoelectronic system Vicon® on treadmill gait subjects with and without corset for the comparison. The results showed that wearing a corset significantly decrease the rotation amplitudes of the scapular and pelvic girdles (p&lt;0.05) in the frontal plane. The movement of the pelvis and hip in this same plane was decreased also when comparing with and without a corset effects (p&lt;0.05). The corset significantly increased the range of flexion-extension of the hip during the gait cycle. At the conclusion of this study the discriminate parameters of wearing a corset was quantified. The results and in association with manufacturer will help to improve materials for better optimization support. Comparable perspectives and after improvement of materials will aim to experiment with patients on real daily life situation.

Pelvic and scapular girdles’ movements during walking on level ground in unilateral transtibial amputees

Objective Modification of the musculoskeletal system of lower limb amputees, as well as the inability of the prosthesis to compensate the loss of the elements necessary for “normal” walking, could disrupt postural control and thus specifically characterize the gait of amputees. Most studies focused on kinematics lower limbs parameters to assess transtibial amputees (TTA) gait. However, other studies have shown the essential role of shoulder movement in the human gait. The modification of this counter-rotation movement in the horizontal plane is characteristic of specific pathologies. The aim was to enhance the compensation strategies of TTA during walking on level ground, by assessing the kinematic of pelvic and scapular girdles’ movements in the sagittal and horizontal planes. Material/patients and methods Twenty able-bodies individuals (AB) and 19 TTA walked, with their own prosthetic devices and shoes, at their self-selected speed on level ground in a motion capture laboratory. Distance between the right and the left acromions and distance between the right and the left anteriosuperior iliac spines in the sagittal plane and the angle of counter-rotation between the pelvic and the scapular girdles in the horizontal plane were measured manually. These values were assessed considering gait cycle, and compared between groups. Results In the sagittal plane, the shoulder movements were significantly greater in TTA compared to AB (P = 0.03). Moreover, an anticipation of the maximum forward shoulder displacement in TTA was observed at 40% of gait cycle, contrary to AB, in whom it was observed at 53% of gait cycle. However, the amplitude of counter-rotation between shoulder and pelvis and the moment when counter-rotation occurred in gait cycle were not significantly different between groups in the horizontal plane. Two counter-rotations of scapular and pelvic girdles occurred at the beginning and in the middle of the gait cycle. Discussion, conclusion The kinematic analysis of the scapular and pelvic girdles movements during level walking showed a specific characterization of the gait of TTA related to their disability due to the loss of residual limb muscles. The displacement of scapular girdle in the sagittal plane is an important compensatory factor for transtibial amputees.