Recurrent increased nuchal translucency: a first trimester presentation of familial 13p satellite deletion.

Chromosome 13 is one of the acrocentric chromosomes of the human karyotype. Acrocentric chromosomes are the most variable chromosomes in the human karyotype and these variations appear to have no clinical consequences. To the best of our knowledge, this is the first reported case of a first trimester presentation of a 13 short arm satellite deletion with markedly increased nuchal translucency (NT). In this case, the 13p short arm satellite deletion was associated with increased NT in two pregnancies from the same couple.

Advances in clinical NK cell studies: Donor selection, manufacturing and quality control.

Natural killer (NK) cells are increasingly used in clinical studies in order to treat patients with various malignancies. The following review summarizes platform lectures and 2013-2015 consortium meetings on manufacturing and clinical use of NK cells in Europe and United States. A broad overview of recent pre-clinical and clinical results in NK cell therapies is provided based on unstimulated, cytokine-activated, as well as genetically engineered NK cells using chimeric antigen receptors (CAR). Differences in donor selection, manufacturing and quality control of NK cells for cancer immunotherapies are described and basic recommendations are outlined for harmonization in future NK cell studies.

Clinical impact of chromosomal aberrations in multiple myeloma.

Chromosomal aberrations are frequently found in multiple myeloma cells and play a major role in patient outcome and management of the disease. The most important chromosomal aberrations associated with poor outcome are del(17p), t(4;14), t(14;16) and t(14;20). Others that may be associated with adverse prognosis include amp(1)(q21), del(1p32), del(13), del(8p21) and hypodiploidy. Many chromosomal aberrations have no or uncertain impact; for example, t(11;14), t(8;14) and hyperdiploidy. Attempts have been made to overcome the negative prognostic impact of chromosomal aberrations using autologous or allogeneic transplantation or new immunomodulatory drugs such as thalidomide, lenalidomide and the proteasome inhibitor bortezomib, but the results are controversial. Data suggest that allogeneic transplantation and treatment with bortezomib or lenalidomide may help to overcome the negative effect of del(13) on prognosis, whereas bortezomib may have some influence on reducing the impact of del(17p), t(4;14) and t(14;16). Chromosome analysis should always be performed at diagnosis of multiple myeloma to improve the prediction of outcome and to aid treatment decision-making.

Natural killer cell-based immunotherapy in cancer: current insights and future prospects.

As our understanding of the molecular mechanisms governing natural killer (NK) cell activity increases, their potential in cancer immunotherapy is growing increasingly prominent. This review analyses the currently available preclinical and clinical data regarding NK cell-based immunotherapeutic approaches in cancer starting from a historical background and an overview of molecular mechanisms taking part in NK cell responses. The status of NK cells in cancer patients, currently investigated clinical applications such as in vivo modulation of NK cell activity, ex vivo purification/expansion and adoptive transfer as well as future possibilities such as genetic modifications are discussed in detail.

Long-term follow-up of gene-marked CD34+ cells after autologous stem cell transplantation for multiple myeloma.

Gene marking can be used to investigate if progenitor cells harvested from patients are contaminated with tumorigenic cells. It can also provide information about the contribution of hematopoietic stem cells to long-term engraftment and about long-term transgene expression from integrated retroviral vectors. In order to study autologous-infused cell contribution to relapse as well as the long-term persistence of the transgene in hematopoietic cells following autologous bone marrow (BM) transplantation for multiple myeloma, we genetically marked autologous CD34+ enriched BM or peripheral blood cell grafts of eight myeloma patients using retroviral vectors. Six patients were subsequently transplanted with the marked graft and followed with regular time points of analysis. Briefly, mononuclear cells were harvested by leukapheresis during 2-4 consecutive days following priming with granulocyte-macrophage colony-stimulating factor (GM-CSF) or G-CSF. The CD34+ cells separated on Cellpro ceprate avidin-biotin columns were exposed to the G1Na vector coding for neomycin resistance gene at a ratio of five vector particles per cell at three consecutive time points achieving an average transduction efficacy of 2% (0.43-5.1%). The patients were transplanted with a mixture of transduced cells and un-manipulated graft. Vector integration and transgene expression were analyzed by colony assays and polymerase chain reaction. The transgene could be detected for up to 5 years post-transplant in normal BM cells, even in remission following relapse and no side effects related to retroviral gene transfer were observed. There were no marked myeloma cells observed in the patients either in remission or in relapsing disease, which indicates that contribution of infused cells to relapse is unlikely.

A new method for detecting pedicular wall perforation during pedicle screw insertion.

STUDY DESIGN: Sensitivity, specificity, and predictive value analyses of a method that can be used to detect pedicular wall perforation during pedicle screw insertion were assessed. OBJECTIVE: To determine the accuracy of observing the fatty material expelled during pedicle screw insertion for detecting pedicular wall perforations. SUMMARY OF BACKGROUND DATA: Although many methods for safe and accurate insertion of a pedicle screw are described, the rates of misplacement still are high, and complications may occur from improper placement of pedicle screws. Computer-assisted insertion techniques are reported to be very accurate, but these techniques are not yet commonly available. METHODS: In this study, 74 pedicle screw insertions were observed for the material expelled after drilling for the pedicle screw. The outflows of blood and fatty particles were recorded separately. The position of the pedicle screws after surgery was verified by computed tomography. The specificity, sensitivity, positive and negative predictive values, and kappa statistics were assessed. RESULTS: Visible fatty particles were observed during 51 pedicle screw insertions. The histologic analysis showed that the fatty particles were coming from the bone marrow of the corpus. For the observation of fatty particles in detecting perforations along the pedicle screw pathway, the specificity was 98%, the sensitivity 73%, the positive predictive value 84%, the negative predictive value 95%, and the kappa statistic 0.74. CONCLUSIONS: The observation of fatty particles in the blood that comes out after drilling for the pedicle screw may indicate that there is no perforation along the pedicle screw pathway. The observation is easy to perform and does not require any special instruments. Therefore, it can be used alone or in combination with other methods to improve the accuracy of pedicle screw insertion.

Forty-two year survival with bilateral Judet hip prostheses.

In this case report, a 70-year-old man is presented who had begun to suffer from ankylosing spondylitis when he was 12 years old and had been operated on because of bilateral hip ankylosis at the age of 21 years. The interesting aspect of this case is that both hips were replaced with Judet type prostheses, which survived for 42 years.

Effect of preoperative chemotherapy on the outcome of surgical treatment of vertebral tuberculosis: retrospective analysis of 434 cases.

A retrospective analysis of 434 patients with vertebral tuberculosis who were treated surgically was performed with special reference to the preoperative duration of chemotherapy. Of these, 376 underwent 4 weeks of a chemotherapy regimen with isoniazid, rifampin and ethamburol, and in 2 re-activation of the disease was observed. The remaining 58 underwent operation for neurological impairment with 6-18 h of the same chemotherapy regimen, and in no case did re-activation occur. These results suggest a shorter duration of chemotherapy may be utilised in all patients undergoing surgical treatment for vertebral tuberculosis, providing a thorough debridement is performed, leaving no necrotic or infected tissue behind.

Treatment of cubitus varus using the Ilizarov technique of distraction osteogenesis.

Seven children with a post-traumatic cubitus varus deformity were treated using the Ilizarov technique of distraction osteogenesis. The outcome was rated as excellent in each case and all were satisfied with the cosmetic appearance. No complications had been encountered by the latest follow-up at a mean of 66.7 months. This technique seems reliable for the treatment of such deformities, provided that it achieves full correction by gradual distraction. Nerve palsy and unsightly scars are avoided, and the range of movement of adjacent joints is preserved.

Bilateral trochanteric fractures of the femur in a patient with chronic renal failure.

We report a spontaneous intertrochanteric fracture with bilateral avulsion of the greater trochanter in a patient with chronic renal failure.

A new method to measure vertebral rotation from CT scans.

CT measurement methods have good reliability for idiopathic scoliosis transverse plane deformity evaluation. However, because of application difficulties and variations in how these methods are applied, more sensitive methods are needed. This paper presents a new method for measurement of vertebral rotation from tomographic scans. First, the method was subject to clinical, intra-observer and inter-observer analysis. Twenty-three patients with adolescent idiopathic scoliosis were studied to test the clinical reliability of this method. There were no statistical differences between the results of the new method and Ho's method (P = 0.3380) in the clinical study. Intraobserver and inter-observer analysis showed that this method was reliable. An experimental study was then conducted to show the confidence limits of our new method, which were found to be +/-1.6 degrees, and there was no significant difference between the mean rotation value obtained from CT scans using our new method and that obtained using the mechanical method. These results suggest that our new method is a simple, practical and reliable method for measurement of vertebral rotation from CT scans.

Detection of Mycobacterium tuberculosis in formaldehyde solution-fixed, paraffin-embedded tissue by polymerase chain reaction in Pott's disease.

STUDY DESIGN: Twenty-five formaldehyde solution-fixed, paraffin-embedded tissue blocks from vertebral biopsy specimen materials with presumptive diagnosis of tuberculous spondylitis and nonspecific vertebral osteomyelitis were studied. OBJECTIVES: To evaluate the sensitivity and specificity of polymerase chain reaction in detecting Mycobacterium tuberculosis in formaldehyde solution-fixed, paraffin-embedded tissue samples from histologically proved tuberculous spondylitis. SUMMARY OF BACKGROUND DATA: Diagnosis of a mycobacterial infection is a long and tedious process; because of the slow growth rate of mycobacteria on solid media, identification and antibiotic sensitivity testing can take up to 10 weeks, but the sensitivity of culture can be as low as 50%. Direct microscopy is insensitive because clinical samples may contain only few organisms. Recently, polymerase chain reaction has been applied in the rapid amplification and identification of many organisms, including mycobacteria. METHODS: The DNAs were extracted from 25 paraffin-embedded tissue blocks. An insertion element IS 6110 (Integrated DNA Tec. Inc., Corrallville, IA), a DNA sequence unique to Mycobacterium complex (M. tuberculosis and the subspecies Mycobacterium bovis), was amplified by polymerase chain reaction. Polymerase chain reaction results were compared with those of Mycobacterium culture, acid-fast bacilli staining, and histologic findings. RESULTS: Polymerase chain reaction was positive in 18 cases of 19 tuberculous spondylitis. Three of the polymerase chain reaction test results were positive with concomitant negative culture and positive acid-fast bacilli staining. There were six chronic nonspecific infections, and polymerase chain reaction results were negative in five cases; in the single positive case, DNA amplification results remained positive even after three repeated tests. CONCLUSION: Polymerase chain reaction has a sensitivity of 94.7%, specificity of 83.3%, positive predictive value of 94.7%, and a negative predictive value of 83.3%. Accuracy was calculated as 92%.

The Alici spinal system in the surgical treatment of scoliosis.

The Alici spinal system is an instrumentation used for correction and fixation of various deformities of the spine. Idiopathic scoliosis is the most important indication. Scoliosis is a complex deformity in the frontal, sagittal and axial planes, and this system provides perfect correction in all three planes. Furthermore, it permits stable fixation and can be used for both anterior and posterior spinal fusions. The indications for the anterior Alici spinal system are: mature thoracolumbar or lumbar curves of more than 40 degrees, progressive immature thoracolumbar or lumbar curves of more than 35 degrees, painful mature lumbar curves, paralytic or congenital lumbar or thoracolumbar curves, and mature lumbar curves of more than 40 degrees in thoracolumbar double curves. The indications for the posterior Alici spinal system are: immature thoracic curves of more than 40 degrees, progressive thoracic or thoracolumbar curves of more than 35 degrees, and paralytic and congenital curves. During the last two years, 92 scoliosis patients underwent spinal fusion with Alici spinal instrumentation. Scoliosis was idiopathic in 58, congenital in 20, paralytic in 12, and 2 cases were caused by neurofibromatosis. Twenty-four of the patients underwent 2-stage anterior and posterior fusions. In the remaining 68 patients only posterior fusion was performed. The mean follow-up was 14 months (range, 6-24 months). Preoperatively, the mean curves of the idiopathic, congenital, and paralytic groups were 54.7 degrees, 57.8 degrees, and 83 degrees, respectively. In the idiopathic group the mean correction was 93% with anterior instrumentation, and 74.4% with posterior instrumentation.(ABSTRACT TRUNCATED AT 250 WORDS)

Prostheses designed for vertebral body replacement.

Prostheses are proposed to restore the spinal stability of patients suffering from metastatic malignant tumours in their vertebral bodies. They are designed to replace only one vertebral body and two neighbouring intervertebral discs of the spine. Experiments performed on cervical, thoracic and lumbar sections, which were obtained from fresh cadavers, have shown that the reduction in average compressive strengths of these regions due to the placement of prostheses is about 9%. This seems acceptable for those patients in performing their daily activities. The same amount of reduction has also been observed in average compressive strengths of the neighbouring healthy vertebrae due to the placement of prosthesis heads by bone cement. Developed prostheses have a number of advantages over the existing fusion constructs for the cases considered in this work.