1,072 research outputs found

    Transforming Growth Factor-Beta (TGF-beta) Signaling in Paravertebral Muscles in Juvenile and Adolescent Idiopathic Scoliosis

    Get PDF
    Most researchers agree that idiopathic scoliosis (IS) is a multifactorial disease influenced by complex genetic and environmental factors. The onset of the spinal deformity that determines the natural course of the disease, usually occurs in the juvenile or adolescent period. Transforming growth factors (TGF-s) and their receptors, TGFBRs, may be considered as candidate genes related to IS susceptibility and natural history. This study explores the transcriptional profile of TGF-s, TGFBRs, and TGF- responsive genes in the paravertebral muscles of patients with juvenile and adolescent idiopathic scoliosis (JIS and AIS, resp.). Muscle specimens were harvested intraoperatively and grouped according to the side of the curve and the age of scoliosis onset. The results of microarray and qRT-PCR analysis confirmed significantly higher transcript abundances of TGF-2, TGF-3, and TGFBR2 in samples from the curve concavity of AIS patients, suggesting a difference in TGF- signaling in the pathogenesis of juvenile and adolescent curves. Analysis of TGF- responsive genes in the transcriptomes of patients with AIS suggested overrepresentation of the genes localized in the extracellular region of curve concavity: LTBP3, LTBP4, ITGB4, and ITGB5. This finding suggests the extracellular region of paravertebral muscles as an interesting target for future molecular research into AIS pathogenesis

    Familial or Sporadic Idiopathic Scoliosis - classification based on artificial neural network and GAPDH and ACTB transcription profile

    Get PDF
    Background: Importance of hereditary factors in the etiology of Idiopathic Scoliosis is widely accepted. In clinical practice some of the IS patients present with positive familial history of the deformity and some do not. Traditionally about 90% of patients have been considered as sporadic cases without familial recurrence. However the exact proportion of Familial and Sporadic Idiopathic Scoliosis is still unknown. Housekeeping genes encode proteins that are usually essential for the maintenance of basic cellular functions. ACTB and GAPDH are two housekeeping genes encoding respectively a cytoskeletal protein β-actin, and glyceraldehyde-3-phosphate dehydrogenase, an enzyme of glycolysis. Although their expression levels can fluctuate between different tissues and persons, human housekeeping genes seem to exhibit a preserved tissue-wide expression ranking order. It was hypothesized that expression ranking order of two representative housekeeping genes ACTB and GAPDH might be disturbed in the tissues of patients with Familial Idiopathic Scoliosis (with positive family history of idiopathic scoliosis) opposed to the patients with no family members affected (Sporadic Idiopathic Scoliosis). An artificial neural network (ANN) was developed that could serve to differentiate between familial and sporadic cases of idiopathic scoliosis based on the expression levels of ACTB and GAPDH in different tissues of scoliotic patients. The aim of the study was to investigate whether the expression levels of ACTB and GAPDH in different tissues of idiopathic scoliosis patients could be used as a source of data for specially developed artificial neural network in order to predict the positive family history of index patient. Results: The comparison of developed models showed, that the most satisfactory classification accuracy was achieved for ANN model with 18 nodes in the first hidden layer and 16 nodes in the second hidden layer. The classification accuracy for positive Idiopathic Scoliosis anamnesis only with the expression measurements of ACTB and GAPDH with the use of ANN based on 6-18-16-1 architecture was 8 of 9 (88%). Only in one case the prediction was ambiguous. Conclusions: Specially designed artificial neural network model proved possible association between expression level of ACTB, GAPDH and positive familial history of Idiopathic Scoliosis

    Doppler-Guided Hemorrhoid Artery Ligation with Recto-Anal-Repair Modification: Functional Evaluation and Safety Assessment of a New Minimally Invasive Method of Treatment of Advanced Hemorrhoidal Disease

    Get PDF
    Purpose: We present 12-month followup results of functional evaluation and safety assessment of a modification of hemorrhoidal artery ligation (DGHAL) called Recto-Anal-Repair (RAR) in treatment of advanced hemorrhoidal disease (HD). Methods: Patients with grade III and IV HD underwent the RAR procedure (DGHAL combined with restoration of prolapsed hemorrhoids to their anatomical position with longitudinal sutures). Each patient had rectal examination, anorectal manometry, and QoL questionnaire performed before 3 months, and 12 months after RAR procedure. Results: 20 patients completed 12-month followup. There were no major complications. 3 months after RAR, 5 cases of residual mucosal prolapse were detected (25%), while only 3 patients (15%) reported persistence of symptoms. 12 months after RAR, another 3 HD recurrences were detected, to a total of 8 patients (40%) with HD recurrence. Anal pressures after RAR were significantly lower than before (P < 0.05), and the effect was persistent 12 months after RAR. One patient (5%) reported occasional soiling 3 months after RAR. Conclusions: RAR seems to be a safe method of treatment of advanced HD with no major complications. The procedure has a significant influence on anal pressures, with no evidence of risk of fecal incontinence after the operation

    Leczenie chirurgiczne objawowych) naczyniaków kręgosłupa

    Get PDF
    Background and purpose Vertebral haemangiomas are relatively common, benign vascular lesions; symptomatic ones that cause spinal cord compression are rare, however. Only 0.9–1.2% of all vertebral haemangiomas are symptomatic. The aim of the paper is to present indications, operative techniques and stabilization methods in patients with symptomatic vertebral haemangiomas. Material and methods Clinical analysis included 7 patients treated between 1995 and 2007. There were 4 females and 3 males, aged 24 to 63 yrs (average age 44 yrs). Symptomatic vertebral haemangiomas were diagnosed on the basis of neuroradiological studies. Surgery was applied in all cases. Implantation of internal stabilization followed vertebral haemangioma resection. Results Localization of vertebral haemangiomas included 1 case in the cervical, 5 cases in the thoracic and 1 case in the lumbar segment of the vertebral column. Symptoms of medulla compression were observed in 7 patients. Neurological symptoms were caused usually by hypertrophy or ballooning of the posterior cortex of the vertebral body into the vertebral canal. The anterior surgical approach was carried out in 2 cases, posterolateral in 3 cases and posterior in 2 cases. Spinal stability was secured by various implant systems and autogenic bone grafts. Bone defects in the vertebral body were filled with acrylic cement in 4 patients. In histological examinations, cavernous types were found in all patients. Neurological condition improved after the treatment in 5 patients. Conclusions No standard therapy exists for symptomatic thoracic vertebral haemangiomas. However, immediate surgical intervention is necessary in cases with acute compressive myelopathy before the symptoms become irreversible.Wstęp i cel pracy Naczyniak kręgosłupa jest najczęstszym pierwotnym guzem kostnym kręgosłupa. Tylko 0,9—1,2% naczyniaków powoduje neurologiczne objawy ubytkowe. W pracy przedstawiono wskazania, techniki operacyjne i sposoby stabilizacji u chorych leczonych z powodu objawowych naczyniaków kręgosłupa. Materiał i metody Analizą kliniczną objęto 7 chorych leczonych w latach 1995—2007, w tym 4 kobiety i 3 mężczyzn w wieku od 24 do 63 lat (średnia wieku wynosiła 44 lata). Diagnostyka opierała się na badaniach neuroradiologicznych. Wszyscy chorzy byli leczeni chirurgicznie. Po usunięciu naczyniaka przeprowadzano stabilizację wewnętrzną kręgosłupa metalowymi implantami i autogennym przeszczepem kostnym. Ubytek w trzonie kręgu w 4 przypadkach został wypełniony cementem akrylowym. Wyniki Naczyniaki kręgosłupa występowały najczęściej w odcinku piersiowym — 5 przypadków, w odcinkach szyjnym i lędźwiowym — po 1 przypadku. Objawy kliniczne ucisku rdzenia kręgowego stwierdzono u wszystkich chorych. Naczyniaki powodowały ucisk rdzenia kręgowego przez przerost i balonowate uwypuklenie zwykle tylnej ściany trzonu kręgowego. Przednie dojście operacyjne wykonano w 2 przypadkach, tylno-boczne w 3 przypadkach, a tylne w 2 przypadkach. W badaniu histologicznym u wszystkich chorych stwierdzono naczyniaki jamiste. Poprawę stanu neurologicznego obserwowano u 5 pacjentów. Wnioski Nie ma ustalonych standardów leczenia u chorych z objawowymi naczyniakami kręgosłupa. Interwencja chirurgiczna polegająca na uwolnieniu rdzenia kręgowego z ucisku jest konieczna w przypadkach narastających neurologicznych objawów ubytkowych
    corecore