Chronic myeloproliferative disorders such as polycythemia vera (PV), essential thrombocytosis (ET), and idiopathic myelofibrosis arise from clonal proliferation of neoplastic stem cells in the bone marrow. Matrix metalloproteinases (MMPs) are a family of zinc-dependent endopeptidases that have potential to degrade all types of extracellular matrix (ECM) and also play a role in remodeling of the ECM. It is known that MMPs play a role in bone marrow remodeling.The primary goal of our study is to explore the relationship between chronic myeloproliferative diseases and some of MMP gene polymorphisms. The demonstration of a relationship will help to understand whether these polymorphisms may be a potential early diagnosis marker of the diseases.Patients were selected from outpatient clinics of Turgut Ozal University Hospital, Ankara, Turkey, between December 2010 and May 2011. Twenty-eight patients that previously diagnosed and followed-up with PV, 17 with secondary polycythemia (SP), and 12 with ET were enrolled in the study, along with a control group of 22 healthy people.DNA was isolated from peripheral blood. Using polymerase chain reaction–restriction fragment length polymorphism method, MMP2 and MMP9 gene polymorphisms were analyzed with agarose gel electrophoresis. There was a statistically significant difference between the study groups and the control group in terms of Gln279Arg polymorphisms rates of MMP9. The highest MMP9 Gln279Arg polymorphism rate was observed in the ET group. But nobody from the control group had polymorphic MMP9. There was no statistically significant difference between the groups in terms of MMP2-735 C > T polymorphism rates.In conclusion, MMP9 gene Gln279Arg polymorphism was associated with ET, SP, and PV diseases. Hence, we believe that these gene polymorphisms may play a role in the mechanism of bone marrow fibrosis and may be a factor that increases the risk of thrombosis. Illumination of the molecular basis of the relationship between MMP-thrombosis and MMP-fibrosis provides a better understanding of the pathophysiology of PV and ET diseases and will allow new approaches to diagnosis and treatment. 相似文献
Chronic exposure to manganese (Mn) fume during welding may lead to mainly extrapyramidal syndrome that is resistant to treatment. We present a 32-year-old patient who developed severe postural instability, Parkinsonism, dystonia, and pyramidal signs in the 10th year of welding. The neurological condition of the patient worsened markedly in the following 3 years, resulting in severe disability rendering him to be assisted in all his daily activities and he did not benefit from any dopaminergic agent. T1 sequences of the MRI of the brain showed pallidal hyperintensity symmetrically. Welders in our country often protect their eyes but ignore to use tools that protect them from inhalation of the fume. Since chronic Mn toxicity may cause serious disability and irreversible neurological disturbances, we strongly believe that it is necessary to inform welders and their employers about this potential hazard. 相似文献
We describe a patient who developed acute demyelinating polyneuropathy on the sixth week of interferon (IFN)alpha therapy for chronic hepatitis B (HBV) infection. A 23-year-old man with chronic HBV infection had acute onset of demyelinating polyneuropathy shortly after completing a standard 6-week course of therapy with IFNalpha 2a. Clinical findings, electrodiagnostic studies and elevated cerebrospinal fluid protein levels without cells supported the diagnosis of Guillain-Barré syndrome (GBS). Other potential causes of GBS were ruled out. It remains unknown whether IFNalpha or the HBV infection itself was the cause of GBS, but it is evident that IFNalpha could not have prevented the development of GBS in our patient. We suggest that coexistent HBV infection and IFNalpha therapy may play a role in triggering an autoimmune response to peripheral nerve myelin. 相似文献
It is a common algorithm for hand surgeons to diagnose and treat persistent post-traumatic wrist pain as complex regional pain syndrome (CRPS). Although it works for many patients, some conditions that affect the wrist don’t fall in this category and worsen with this treatment practice. We present a single-handed patient who had had a non-displaced distal radius fracture and was treated as CRPS for the next three months. He was eventually diagnosed with late tuberculous tenosynovitis of the wrist and a total wrist arthrodesis was performed. We believe that Mycobacterium tuberculosis infection should be in the differential diagnosis of persistent post-traumatic joint pain. This is especially important as Mycobacterium infections are becoming more common due to an increase in patients with chronic immunosuppression and definitive diagnosis and treatment of tuberculous tenosynovitis needs a high index of clinical suspicion. 相似文献
Tumor angiogenesis is believed to be related to prognostic factors involved in tumor development and metastasis. Using immunohistochemical methods, we evaluated tumor angiogenesis in 42 early invasive breast cancer patients (T1-2, NO-1-2, M0). Four patients received tamoxifen, 25 patients received CAF or CA, and 15 patients received CMF as adjuvant therapy. The median follow-up was 47 (range 24-119) months. Ten patients (43.5%) in the node-positive group and 2 patients (10.5%) in the node-negative group relapsed (p = 0.019). The mean microvessel count (MVC) was 60.3 3.05 per 200x field (range: 16-95). MVCs of postmenopausal and premenopausal patients were 50.13 +/- 5.74 and 68.64 +/- 4.11, respectively, in the axillary lymph node (ALN)-negative patient group (p = 0.04). Staining was moderate to strong in 13 (68%) ALN-negative and in 17 (74%) ALN-positive patients (p > 0.05), and was also moderate to strong in 82% of premenopausal patients and in 50% of postmenopausal patients (p = 0.037). There was no significant relationship between angiogenesis and p53, nor was angiogenesis significantly associated with the patient ER status and tumor size. No significant correlations were found between OS/DFS and Factor VIII staining or p53 (log rank test, p > 0.05). Of all ALN-negative patients with increased angiogenesis, one patient of the CMF group relapsed, but no recurrence occurred in patients undergoing anthracycline-based chemotherapy (p > 0.05). On the other hand, of all ALN-positive patients with increased angiogenesis, 5/14 patients treated with anthracylcine and 2/2 CMF-treated patients relapsed (p = 0.175). Despite the statistical insignificance, anthracycline-based adjuvant chemotherapy appears to be more effective than CMF as regards relapse prevention particularly in early ALN-positive breast cancer patients with increased angiogenesis. Additional studies are necessary to demonstrate the clinical importance of angiogenesis. 相似文献
The prevalences of deficiencies in antithrombin III (AT III), protein C (PC), protein S (PS) and in the activated protein C (APC) resistance in the thrombotic population of the Trakya region, Turkey were investigated. 37 patients with venous thrombosis (VT) and 17 patients with arterial thrombosis (ArT) were included in this study. The mean ages of the patients with VT and ArT were 46 years (range 20-70) and 38 years (range 32-40), respectively. The activity of AT III was measured by commercially available immuno-turbidimetric assay. The activities of PC and PS were determined by coagulometric assay. The APC resistance was measured using a modified APTT-based clotting assay. Among the VT patients, there were 2 cases (5.4%) with AT III, 5 (13.51%) with PC deficiency, 5 (13.51%) with PS deficiency and 2 (5.4%) with APC resistance. In the ArT patient group, there was 1 patient (5.88%) with AT III, 3 (17.64%) with PC deficiency, 1 (5.88%) with PS deficiency and no APC resistant patients, while there was one (2.08%) with PC deficiency and one (2.08%) with APC resistance in the control group (49 persons, mean age 41 years). The relative risk of thrombosis (odds ratio) was 1.7 in the deficiency of PC and 5.6 in the deficiency of PS. The data presented suggests that the prevalences of AT III, PC and PS deficiencies causing thrombophilia in the Trakya region of Turkey are higher than in other reported studies while the APC resistance is lower than in others. Further studies including more patients would be required to clarify these discrepancies. 相似文献
The human milk (HM) microbiota is a significant source of microbes that colonize the infant gut early in life. The aim of this study was to compare transient and mature HM virome compositions, and also possible changes related to the mode of delivery, gestational age, and weight for gestational age. Overall, in the 81 samples analyzed in this study, reads matching bacteriophages accounted for 79.5% (mainly Podoviridae, Myoviridae, and Siphoviridae) of the reads, far more abundant than those classified as eukaryotic viruses (20.5%, mainly Herpesviridae). In the whole study group of transient human milk, the most abundant families were Podoviridae and Myoviridae. In mature human milk, Podoviridae decreased, and Siphoviridae became the most abundant family. Bacteriophages were predominant in transient HM samples (98.4% in the normal spontaneous vaginal delivery group, 92.1% in the premature group, 89.9% in the C-section group, and 68.3% in the large for gestational age group), except in the small for gestational age group (only ~45% bacteriophages in transient HM samples). Bacteriophages were also predominant in mature HM; however, they were lower in mature HM than in transient HM (71.7% in the normal spontaneous vaginal delivery group, 60.8% in the C-section group, 56% in the premature group, and 80.6% in the large for gestational age group). Bacteriophages still represented 45% of mature HM in the small for gestational age group. In the transient HM of the normal spontaneous vaginal delivery group, the most abundant family was Podoviridae; however, in mature HM, Podoviridae became less prominent than Siphoviridae. Myoviridae was predominant in both transient and mature HM in the premature group (all C-section), and Podoviridae was predominant in transient HM, while Siphoviridae and Herpesviridae were predominant in mature HM. In the small for gestational age group, the most abundant taxa in transient HM were the family Herpesviridae and a species of the genus Roseolovirus. Bacteriophages constituted the major component of the HM virome, and we showed changes regarding the lactation period, preterm birth, delivery mode, and birth weight. Early in life, the HM virome may influence the composition of an infant’s gut microbiome, which could have short- and long-term health implications. Further longitudinal mother–newborn pair studies are required to understand the effects of these variations on the composition of the HM and the infant gut virome. 相似文献
Context: Recurrent priapism is characterized by repetitive episodes of erections which are unrelated to sexual interest or stimulation. It is extremely rare in patients with spinal cord injury (SCI). There are a number of conservative agents used in the treatment.Findings: We describe the case of a 20-year-old male with cervical-5 American Spinal Injury Association (ASIA) Impairment Scale (AIS) grade A tetraplegia as a result of a diving accident 2 years ago. He declared that the recurrent penile erections occurred up to 15–20 times day and night every day and lasted up to 20 min each time unrelated to sexual interest or stimulation. He was prescribed baclofen 10 mg, twice daily. The frequency and duration of erections decreased to 3–5 times/day lasting for about 5 min each and the patient reported a high treatment satisfaction.Conclusion: The presentation of this case is to remind clinicians this rare but distressing condition of recurrent priapism seen in men with complete spinal cord lesions and to summarize the use of medications, most commonly baclofen, to alleviate the condition. 相似文献
In this study. it was aimed to determine the prevalence of sexual dysfunction (SD) and the factors that may affect the occurrence of SD in patients receiving hemodialysis treatment.
Methods
The sample of the study consists of 49 patients (20 females. 29 males) receiving treatment in the hemodialysis unit of a university hospital. The data of the study were collected through a general information form including socio-demographic characteristics and risk factors. Female Sexual Function Index (FSFI). International Assessment Form for Erectile Function (IIEF) and Quality of Life Scale (SF-36).
Results
In our study. SD was detected in all patient groups. While the most affected area was seen to be orgasmic function and the least affected area was sexual desire in famales. the most affected area was found to be orgasmic function and the least affected area was erectile dysfunction in males. Such factors as age. profession. having a child. working status and duration of hemodialysis were found to affect occurrence of SD. There was a relationship between all sub-dimensions of sexual function and quality of life in male and female subjects.
Conclusion
In conclusion. sexual dysfunction is commonly encountered in patients undergoing hemodialysis treatment. In these patients. psychosocial factors as well as disease-related factors have an effect on SD. Therefore. SD should be evaluated together with disease-related factors as well as psychosocial factors in patients undergoing hemodialysis treatment.