Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis.

Genetic mosaicism caused by postzygotic mutations is of a great interest due to its role in human disease. Monozygotic twins arising from a single zygote are considered as genetically identical, and any differences likely to be caused by postzygotic events. Thus, phenotypically discordant monozygotic twins offer a unique opportunity to study genotype-phenotype correlation. Here, we present a three-generation family starting from a pair of monozygotic twins discordant for metachondromatosis due to postzygotic p.(Gln175His) variant in the PTPN11 gene. Both phenotypically discordant monozygotic twins harbor p.(Gln175His), however significant differences in mosaic ratio is observed not only between twins, but also within different tissue types within one individual. Phenotypic manifestation of p.(Gln175His) in examined family clearly depends on allele variant fraction (VAF). Individuals harboring constitutional mutation (VAF 50%) present typical metachondromatosis. Milder phenotype is observed in twin harboring high-level mosaicism in the tissue of ectodermal origin (VAF 45%), but not in a blood (VAF 5%). Finally, her twin sister harboring low-level mosaicism in blood (VAF 2%) and nonblood (VAF 12%) tissues is phenotypically normal. Our results provide insights into biological role of mosaicism in disease and further support the usefulness of nonblood tissues as an optimal source of DNA for the identification of postzygotic mutations in phenotypically discordant monozygotic twins.

Axially Loaded Magnetic Resonance Imaging Identification of the Factors Associated with Low Back-Related Leg Pain.

This retrospective observational study was conducted to identify factors associated with low back-related leg pain (LBLP) using axially loaded magnetic resonance imaging (AL-MRI). Ninety patients with low back pain (LBP) underwent AL-MRI of the lumbar spine. A visual analog scale and patient pain drawings were used to evaluate pain intensity and location and determine LBLP cases. The values of AL-MRI findings were analyzed using a logistic regression model with a binary dependent variable equal to one for low back-related leg pain and zero otherwise. Logistic regression results suggested that intervertebral joint effusion (odds ratio (OR) = 4.58; p = 0.035), atypical ligamenta flava (OR = 5.77; p = 0.003), and edema of the lumbar intervertebral joint (OR = 6.41; p = 0.003) were more likely to be present in LBLP patients. Advanced disc degeneration (p = 0.009) and synovial cysts (p = 0.004) were less frequently observed in LBLP cases. According to the AL-MRI examinations, the odds of having LBLP are more likely if facet effusion, abnormal ligamenta flava, and lumbar facet joint edema are present on imaging than if not. The assessment of lumbar spine morphology in axial loaded MRI adds value to the potential understanding of LBLP, but further longitudinal and loaded-unloaded comparative studies are required to determine the role of acute dynamic changes and instability in LBLP development.

Patient-reported outcomes of carpal tunnel syndrome surgery in a non-industrial area.

INTRODUCTION AND OBJECTIVE: This study aimed to determine the environmental conditions for the occurrence of carpal tunnel syndrome (CTS) in a non-industrial area, and patient-reported outcomes after surgical release. MATERIAL AND METHODS: This observational study utilized convenience sampling to screen 100 consecutive patients for carpal tunnel syndrome at the Orthopedic Clinic, using two questionnaires. Data were collected from the Disability of Arm Shoulder and Hand (DASH) questionnaire, and the PROMIS® (Patient-Reported Outcomes Measurement Information System) Upper Extremity and PROMIS® SF 3a questionnaire (Pain Intensity). The relationship of various repetitive musculoskeletal disorders to CTS was validated by questionnaire scores, PROMIS® T-score, and correlation coefficients. RESULTS: Finally, CTS was confirmed by electromyography in 69 patients (55 females and 14 males; average age: 47.5 years). Aging significantly influenced the occurrence of symptoms associated with pain (neck, thoracic, lower back, shoulder, and CTS (p<0.001)). Those employed for longer more frequently declared performing exercises to prevent overload pain (p<0.001). DASH results significantly correlated with the PROMIS Upper Extremity score (r = -0.64; p<0.05). CONCLUSIONS: Geographical and environmental conditions indicate that even though working with a computer is described as an essential risk factor for CTS, the study group showed a predominance of elements that were unrelated to working at a computer. CTS also occurred among people working physically, and even among unemployed individuals. The existence of a statistically significant, strong, negative correlation (r=-0.64; p < 0.05) between the results obtained in the questionnaires DASH and PROMIS Upper Extremity has been demonstrated.

Effects of preoperative physiotherapy in hip osteoarthritis patients awaiting total hip replacement.

INTRODUCTION: The World Health Organization (WHO) claimed osteoarthritis as a civilization-related disease. The effectiveness of preoperative physiotherapy among patients suffering hip osteoarthritis (OA) at the end of their conservative treatment is rarely described in the literature. The aim of this study was to assess the quality of life and musculoskeletal health status of patients who received preoperative physiotherapy before total hip replacement (THR) surgery within a year prior to admission for a scheduled THR and those who did not. MATERIAL AND METHODS: Forty-five patients, admitted to the Department of Orthopaedics and Traumatology of Locomotor System for elective total hip replacement surgery, were recruited for this study. The assessment consisted of a detailed interview using various questionnaires: the Harris Hip Score (HHS), the Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC), the 36-Item Short Form Health Survey (SF-36), and the Hip disability and Osteoarthritis Outcome Score (HOOS), as well as physical examination. Patients were assigned to groups based on their attendance of preoperative physiotherapy within a year prior to surgery. RESULTS: Among patients who received preoperative physiotherapy a significant improvement was found for pain, daily functioning, vitality, psychological health, social life, and (active and passive) internal rotation (p < 0.05). CONCLUSIONS: Patients are not routinely referred to physiotherapy within a year before total hip replacement surgery. This study confirmed that pre-operative physiotherapy may have a positive influence on selected musculoskeletal system status indicators and quality of life in hip osteoarthritis patients awaiting surgery.

Telediagnostic 3D school screening of back curvatures and posture using structured light method - pilot study.

BACKGROUND: Several studies consider the school scoliosis screening as controversial. Many authors postulate to improve its clinical effectiveness. AIM: Authors assumed that three dimensional telediagnostic surface topography measurements allowing measuring several postural deformity indexes and angles of curvatures in sagittal plane may enhance current practice. The study was designed to determine usefulness of school screening back evaluation performed utilizing the three dimensional telediagnostic measurement system. METHODS: The measurement module is based on structured light method using "3D Orthoscreen" system. The technique for 3D image acquisition of back shape is based on temporal phase shifting and Gray codes. Measurement data was securely archived for remote access by investigator over the secure Internet connection. Acquired "images" were transferred to Telediagnostic Center for clinical evaluation. Spine parameters and deformation indexes like Posterior Trunk Symmetry Index (POTSI), Deformity in the Axial Plane Index (DAPI), kyphosis and lordosis angle were measured. The preliminary study was performed in 2 selected schools (basic and middle schools). The study was approved by Bioethical Committee. Clouds of points representing back topography of assessed subjects were acquired at schools in March and May 2011 and stored for remote evaluation and analysis. RESULTS: 758 children averagely aged 11.1 years (from 5 to 16), 387 females and 371 males, were examined. Their average body mass was 45.13 kg [16-105; STD 16.4] and average height was 151.43 cm, [110-192; STD 18.3]. The average values of back assessment parameters were as follows: POTSI 15.97% [0-73.4; STD 10.3]; DAPI 0.88% [0-5.9; STD 0.76]; kyphosis angle 10.19° [0-32; STD 5.82]; and lordosis angle 32,82° [0-56; STD 9.86]. CONCLUSION: Technical and clinical issues of the practical implementation allowed to elaborate preliminary protocol for cohort studies addressed to subject (i.e. parents acceptance of examination of undressed back) and technical issues (i.e. upload data and retrieval, network transfer velocity). Postural telediagnostics was found sufficiently feasible for further implementation of remote, cohort 3D back shape evaluations including school screening. Permanently saved 3D data allow monitoring back surface of the individual subjects.

Arthroscopic treatment of subacromial impingement syndrom.

Background. Subacromial impingement syndrome is a frequently seen disorder of the shoulder, however it is also often misdiagnosed. The aim of the study was the assessment of the clinical value of the arthroscopic subacromial decompression.
Material and methods. From January 1999 to December 2002 sixty five patients were included to our study. The main complaints of patients was severe, long-lasting and progressing pain of the shoulder. Sixty one patients had failed conservative treatment (physical therapy, NSAID's, multiple steriod injections). Average duration of pain before surgery was 20 months, ranged from 1 to 50 months. On examination, restricted range of abduction and narrowing of subacromial space to 5 mm (3-8 mm) on plain AP X-ray view were found. The patients were followed up after six and twelve months after surgery.
Results. Finally, we noted full range of movement and absence of pain in neutral shoulder position in 38 patients. Four patients presented persistent pain while moving their shoulders, but no resting pain. In two cases pain relief was achieved but shoulder joint ROM restriction by 20 degrees abduction and 10 degrees external rotation.
Conclusions. Based on performed study we conclude that treatment emploing arthroscopic subacromial decompression is a valuable method, allowing to achieve very good outcomes and to introduce early rehabilitation.

Shoulder arthroscopy complications.

Shoulder arthroscopy has become a popular diagnostic and therapeutic procedure during the past two decades. In many centers shoulder arthroscopy has become a standard procedure. Complications associated with shoulder arthroscopy are relatively rare. Most of the complications can be minimized through proper surgical technique, good instrumentation, clinical experience and familiarity with anatomy. We evaluated cases from own clinical experience and reviewed the literature on complication of arthroscopic shoulder surgery and their management. Complications can be divided into general, generic to all shoulder procedures, and the type of procedure performed. Complications specific to shoulder arthroscopic procedures may affect articular capsule, brachial plexus nerves and wound healing. Serious and rare complications, like upper limb DVT, pneumothorax or rotator cuff jatrogenic injury require immediate recognition and treatment. Proper patient selection, attention to operative procedure (patient positioning, proper traction, anatomic portal placement), and careful post-operative care can minimize the morbidity associated with complications if they occur.