Clear cell sarcoma harbours recurrent translocation, resulting in EWSR1/ATF1 or less commonly EWSR1/CREB1 fusion. To date, six types of EWSR1/ATF1 fusion have been reported, of which three are in-frame and encode functional proteins. We present a reverse transcription - polymerase chain reaction analysis of a tumour near the hallux of the right foot. The sequencing of obtained fragments revealed the presence of a novel chimerical transcript-the in-frame fusion between EWSR1 exon 7 and ATF1 exon 6 that represents the fourth in-frame type of EWSR1/ATF1 fusion identified in clear cell sarcomas.

abstract. Purpose. To determine the associations among PFM, trochlea groove morphology, femoral and patellar rotation and to determine which measures best predict patellofemoral pain (PFP). Material & Methods. Knees of 51 female patients with PFP and 26 healthy female volunteers as control group were analysed with kinematic magnetic resonance imaging and full weight-bearing. The bisect offset (BSO), patellar tilt angle (PTA), femoral rotation angle (FRA), patellar rotation angle (PRA) were measured in steps of 10° between 0° to 50° of knee flexion. Static measures of Insall-Salvati ratio (ISR), sulcus angle (SAB & SAc) and lateral trochlear inclination at bone and cartilage levels (LTIB & LTIc) were performed and compared. Results. The SAB & SAc were higher and the LTIB & LTIc were lower in patients compared to volunteers. BSO, PTA, PRA and medial FRA were higher in the PFP group at all flexion angles. A multiple logistic regression analysis demonstrated that increase of FRA and SAB by 1° increased the likelihood of PFP 5.6 times and 1.6 times respectively, decrease of PRA by 1° decrease PFP likelihood by 1.7 times. conclusion. These results revealed FRA, SAB and PRA to have best predictive value for patellofemoral pain. current findings can help to assess the complexity of predisposing factors for PFP in practice.

Developmental delay and brain anomalies leading to significant morbidity and mortality are frequently caused by chromosomal rearrangements. We report on a familial unbalanced translocation resulting in distal monosomy 5p15.3-pter with trisomy 12q24.2-qter in 2 half siblings with cerebral dysgenesis, severe intellectual disability, dysmorphic features, progressive weakness, and atrophy of muscles.

Andrius BrazaitisSkausmas priekinėje kelio sąnario dalyje, įvardijamas kaip patelofemoralinio skausmo sindromas (PFPS -"patellofemoral pain sindrome"), yra viena dažniausių raumenų ir skeleto sistemos ligų. Ši problema turi didelę socialinę ir ekonominę reikšmę, nes dažniausiai paveikia jaunus ir aktyvius žmones. Dažnis siekia 15-33 proc. suaugusiųjų populiacijoje, 21-45 proc. -paauglių. Skausmas priekinėje sąnario dalyje yra dvigubai dažnesnis moterims. Nepaisant susirgimo dažnumo ir klinikinių simptomų gausumo, jo patogenezė iki šiol nėra tiksliai žinoma. Sutariama, kad patelofemoralinio skausmo sindromo priežasčių yra daug, jos susijusios su įvairiais apatinės galūnės funkciniais sutrikimais: vidurinio ir didžiojo sėdmens raumenų silpnumu, šoninio ir vidinio plačiųjų raumenų disbalansu, sutrumpėjusiais šlaunies lenkiamaisiais raumenimis ("hamstring"), klubinės blauzdos juostos stangrumu, patologine girnelės padėtimi, pėdos eversija. Skausmų priežastys gali būti suskirstytos į proksimalines, distalines ir vietines arba kelio sąnario. Straipsnio tikslas -apžvelgti galimas patelofemoralinio sąnario skausmo priežastis ir įvertinti radiologinių tyrimų galimybes. aBstraCt Key words: knee, patellofemoral joint, patellofemoral pain syndrome, Magnetic resonance imaging. Anterior knee pain, diagnosed as patellofemoral pain syndrome (PFPS), is one of the most common musculoskeletal disorders. It is of high socioeconomic relevance as it occurs most frequently in young and active patients. The rate is around 15-33 % in an active adult population and 21-45 % in adolescents. Females are twice at greater risk for PFPS. Despite of its high incidence and abundance of symptoms, its pathogenesis is still not well understood. There are many possible causes for PFPS: hip muscle weakness, vastus medialis obliquus and vastus lateralis imbalance, increased hamstring tightness, iliotibial tract tightness, patellar maltracking, foot eversion. Etiologic factors were classified as local, distal, and proximal. Aim of this literature review is to overview reasons regarding the underlying pathology of PFPS and value of different radiological imaging modalities.

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