Rubinstein-Taybi Syndrome in a 19-years old boy.

INTRODUCTION: Rubinstein-Taybi syndrome is a rare genetic multisystem disorder comprising motor organ dysfunction, craniofacial dysmorphism and psychomotor retardation, frequently with the abnormalities of the thyroid gland. OBJECTIVE: Presentation of a case of a 19-year-old patient with Rubinstein-Taybi syndrome in whom serum TSH, fT3 and fT4 levels were assessed. CASE: Craniofacial abnormalities including: microcephaly, underdeveloped maxilla, micrognathia, high arched palate, malocclusion, down-slanting palpebral fissures, thick eyelashes and full eyebrows. Clinodactyly, broad thumbs and toes were observed in the musculoskeletal system. The patient presented with moderate mental retardation, short stature and obesity. Furthermore, I° thoracolumbar scoliosis, elbow joint deformation resulting from the radial head dislocation and limitation of the right hip motion as a consequence of Perthes disease were found. Genetic testing revealed a mutation affecting the CREBBP gene located on the short arm of chromosome 16. The measured serum TSH level was 1.510 µlU/ml (normal range 0.27-4.20), fT3 5.1 pmol/l (normal range 4.1-6.7), fT4 15.5 pmol/l (normal range 13.1-21.3). The patient is subjected to long-term rehabilitation. CONCLUSIONS: The obtained results of laboratory tests of serum TSH, fT3 and fT4 levels point to a lack of thyroid gland dysfunction in the patient with Rubinstein-Taybi syndrome. Rehabilitation treatment of patients with RTS is necessary to improve the patient's mobility.

Is resection of the tendon edge necessary to enhance the healing process? An evaluation of the expression of collagen type I, IL-1ß, IFN-γ, IL-4, and IL-13 in the distal 1 cm of a torn supraspinatus tendon: part II.

BACKGROUND: Type I collagen proin pro-in expression in a damaged supraspinatus tendon is thought to be dependent on the distance from the edge of the tear and the local expression of pro-inflammatory, anti-proliferative, and pro-proliferative cytokines. The study evaluates the expression of type I collagen, pro-inflammatory interleukin (IL) 1ß, anti-proliferative interferon-γ (IFN-γ), and pro-proliferative IL-4 and IL-13 cytokines along a 1-cm section taken from the edge of a torn supraspinatus tendon. Three sections were taken: 3 mm distal to the tear, 3 mm proximal to the tear, and the 4-mm middle section between them. METHODS: Nine patients (average age, 58 years) were included in the study. All fulfilled strict inclusion criteria regarding tear morphology and reconstruction technique. Samples were taken from the ruptured supraspinatus tendon at the time of arthroscopic repair. Quantitative real-time polymerase chain reaction assay was used for analysis. RESULTS: The expression of type I collagen, IL-4, and IL-13 significantly increased and that of IL-1ß and IFN-γ decreased from the distal to the proximal parts of the tendon edge (P < .05). CONCLUSIONS: The expression of type I collagen is dependent on the distance from the edge of the torn supraspinatus tendon, the balance between anti-proliferative IFN-γ and pro-proliferative IL-4 and IL-13, and the expression of pro-inflammatory IL-1ß. Hence, whereas resection of the distal 3 mm of the torn supraspinatus tendon edge eliminates its least valuable part, resection between 4 and 7 mm may enhance the healing process by reaching a reasonable compromise between the mechanical features of the tendon characterized by collagen type I expression and the technical abilities of reconstruction.

Is resection of the tendon edge necessary to enhance the healing process? An evaluation of the homeostasis of apoptotic and inflammatory processes in the distal 1 cm of a torn supraspinatus tendon: part I.

BACKGROUND: We hypothesize that the expression of proapoptotic and antiapoptotic molecules and cytokines is dependent on the distance from the torn supraspinatus tendon edge and this expression may influence its potential for healing. The aim of this work is to evaluate the expression of proapoptotic Bax molecule and caspases 3, 8, and 9; antiapoptotic Bcl-2 molecule; and proinflammatory tumor necrosis factor (TNF) α and anti-inflammatory interleukin 10 (IL-10) in 3 sections taken from a 1-cm section of the edge of a torn supraspinatus tendon: 3 mm distal and 3 mm proximal, as well as the remaining 4-mm middle section between them. METHODS: Nine patients, with a mean age of 58 years, were included in the study. All fulfilled strict inclusion criteria regarding the morphology of the tear and reconstruction technique. Samples were taken from the ruptured supraspinatus tendon at the time of arthroscopic repair. Quantitative real-time polymerase chain reaction assay was used for analysis. RESULTS: The expression of caspases 9, 8 and 3; Bax; and TNF-α significantly decreased from the distal to the proximal parts of the tendon edge (P < .05). However, a significant increase in Bcl-2 and IL-10 expression was also found in the same direction (P < .05). CONCLUSIONS: Tenocytes can reduce the expression of proapoptotic caspases 3, 8, and 9 and Bax, as well as proinflammatory TNF-α, by increasing the expression of Bcl-2 and IL-10 within 1 cm of the supraspinatus edge in a distal to proximal direction. Resection 4 to 7 mm from the edge of the torn supraspinatus tendon may enhance the healing process by reaching a reasonable compromise between molecular homeostasis of apoptotic and inflammatory processes and mechanical aspects of rotator cuff reconstruction.

Evaluation of effectiveness of osteoporosis treatment in patient with pachydermoperiostosis according to densitometric findings. Case study.

This study presents the outcome of osteoporosis treatment in a 29-year-old male patient with full-blown Touraine-Solente-Gole syndrome. His first DXA densitometry of the proximal femur demonstrated severe osteoporosis (BMD 0.628 g/cm(2); T-score -3.84 SD, Z-score -3.37 SD). Bisphosphonate treatment (alendronate 70 mg once weekly) produced considerable clinical improvement during a 36-month follow-up. A follow-up densitometry showed a reduction of the osteoporotic indices (BMD 0.665 g/cm(2); T-score -3.54 SD, Z-score -2.93 SD). These findings indicate that it is necessary to treat osteoporosis in pachydermoperiostosis and prevent pathologic bone fractures in these patients.

[Long-term results of using Pyrost in orthopedic operations--our own observations]. / Odlegle wyniki zastosowania Pyrostu w operacjach ortopedycznych--spostrzezenia wlasne.

Based on clinical material of 21 patients age from 9 to 67 years (average 32.8 years) at whom bone defects were supplemented by Pyrost our own observations were presented. Only Pyrost was used in 10 cases, in 9 cases it was used together with homogenous bone grafts and in 2 with autogenous bone grafts. The indications for using Pyrost were following: non union in 9 cases, realloplasty of the hip in 5, after tumour bone resection in 5, inflammation of bone in 1 and supplementation after augenous bone grafting in 1. Analysis of medical documentation and control examinations of 16 patients with follow-up 11.8 years shown good patients' tolerance of Pyrost and absence of locally and generally unuseful reactions. First signs of osteogenesis were observed after 6 weeks. Successive evaluations shown rebuilding of bone to the end of it. Long term results confirmed whole rebuildings of Pyrost to the bone tissue and absence of resorption of Pyrost, without weakness of bone structure. Non-satisfactory results were observed in 3 cases: no consolidations of 2 non unions and 1 septic failed hip realloplasty.

[Double recurrent humerus osteochondroma]. / Podwójna wyrosl chrzestno-kostna nawrotowa kosci ramiennej--opis przypadku.

This paper presents rare case of the double recurrent humerus osteochondroma in 18 years old man. Tumour was removed twice, in the age 5 and 10 years. In 18 years after tiny injury odoema and pain associated double, recurrent exostosis. Precise analysis of radiograms allowed diagnosis of infracture of one of exostosis and excluded malignant transformation. Whole tumour resection could patient's heal and make final diagnosis--double recurrent humerus osteochondroma.

[Operative treatment of Haglund's deformity]. / Operacyjne leczenie deformacji piety Haglunda.

The paper presents results of the operative treatment of 22 heel in 18 patients mostly young women from 13 to 31 years old (average 20.6) with Haglund's exostosis. Operative technique consisted in partial resection of the heel with removal of the Achilles bursa. The most valuable was radiological examination for the diagnosis and assessment operative results. The ultrasound examination was helpful of estimation of Achilles tendon and calcaneal bursa. Good results achieved in 16 patients (20 heel) with follow-up from 4 to 20 years (average 9.5). Unsatisfactory results in 2 patients was connected with inadequate bone resection.

[Effect of femoral shaft fracture for growth of the lower extremity in children]. / Wplyw zlamania trzonu kosci udowej u dzieci na dlugosc konczyny dolnej.

On the material of 15 children aged from 1.5 to 15 years (mean 6.6), who were treated conservatively the influence of fracture of the femoral shaft for growth of the lower extremity was assessed. In the follow-up from 1 to 14 years (mean 6.2) 2 patients had shortened of the fractured limb 5 mm, 5 patients had equal extremity and 8 had lengthened limb from 5 mm to 15 mm, at the same time 6 had overgrowth 10 mm and more. The overgrowth of the limb was observed only within of the femur, the legs were equal in every case. The overgrowth was remarked in the cases of spiral fracture with overriding, in fracture of the opposite site to dominant hand, in boys and in the cases which were treated by direct traction.